Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)	SNV Germline	Chr14:67782840	Pathogenic	Hereditary spastic paraplegia 15 Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114476	rs_118204049	6 SubmittersRCV000000785 RCV001035676 RCV001555238
NM_015346.4(ZFYVE26):c.5485-1G>A	SNV Germline	Chr14:67769731	Pathogenic	Hereditary spastic paraplegia 15	No Assertion Criteria Provided	CA390167203	rs_1594898627	1 SubmittersRCV000000786
NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter)	SNV Germline	Chr14:67802241	Pathogenic	Hereditary spastic paraplegia 15	No Assertion Criteria Provided	CA114478	rs_118204050	1 SubmittersRCV000000788
NM_024306.5(FA2H):c.786+1G>A	SNV Germline	Chr16:74718987	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 35 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA396769346	rs_1567633766	3 SubmittersRCV000001098 RCV002512633
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)	SNV Germline	Chr16:74774653	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 35	Criteria Provided Multiple Submitters No Conflicts	CA251671	rs_121918217	4 SubmittersRCV000001099
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	SNV Germline	Chr15:44573652	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA249690	rs_118203963	15 SubmittersRCV000001168 RCV000202373 RCV000414837 RCV000518418 RCV002354145 RCV005007805
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)	SNV Germline	Chr15:44663530	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA249693	rs_267607084	4 SubmittersRCV000001170 RCV000202382 RCV000193032 RCV005416315
NM_025137.4(SPG11):c.442+1G>C	SNV Germline	Chr15:44660431	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA339868	rs_312262715	8 SubmittersRCV000001173 RCV001092501 RCV004689398
NM_025137.4(SPG11):c.7152-1G>C	SNV Germline	Chr15:44563302	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA339869	rs_200079802	3 SubmittersRCV000001174
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	SNV Germline	Chr15:44584057	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA339870	rs_141848292	15 SubmittersRCV000001175 RCV000413953 RCV002345222 RCV002482813
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	SNV Germline	Chr8:125056817	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 8 Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome Inborn genetic diseases Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA339873	rs_80338867	11 SubmittersRCV000001220 RCV002227984 RCV003242958 RCV003320543 RCV001847561
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)	SNV Germline	Chr8:125057574	Pathogenic	Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome Hereditary spastic paraplegia 8	Criteria Provided Multiple Submitters No Conflicts	CA251713	rs_80338866	3 SubmittersRCV000001221 RCV001851527
NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp)	SNV Germline	Chr8:125061192	Pathogenic	Hereditary spastic paraplegia 8	No Assertion Criteria Provided	CA339874	rs_80338865	2 SubmittersRCV000001222
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)	SNV Germline	Chr10:97749494	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 33 not specified Spastic tetraparesis Spastic paraplegia Condition: not provided Thyroid cancer, nonmedullary, 1 Melanoma Cholangiocarcinoma Acute myeloid leukemia Ovarian serous cystadenocarcinoma Thymoma Hepatocellular carcinoma Nonpapillary renal cell carcinoma Cervical cancer Uveal melanoma Colon adenocarcinoma Colorectal cancer Sarcoma Uterine corpus endometrial carcinoma Gastric cancer Uterine carcinosarcoma Malignant tumor of esophagus Lung cancer	Criteria Provided Conflicting Classifications	CA114909	rs_35077384	12 SubmittersRCV000001352 RCV000407569 RCV000415084 RCV000471962 RCV001723530 RCV005887179 RCV005887180 RCV005887181 RCV005887167 RCV005887176 RCV005887178 RCV005887168 RCV005887170 RCV005887171 RCV005887172 RCV005887166 RCV005887173 RCV005887174 RCV005887183 RCV005887175 RCV005887177 RCV005887169 RCV005887182
NM_001371279.1(REEP1):c.183-2A>G	SNV Germline	Chr2:86254816	Pathogenic	Hereditary spastic paraplegia 31	Criteria Provided Single Submitter	CA115244	rs_387906264	2 SubmittersRCV000001937
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	SNV Germline	Chr2:86217057	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 31 Inborn genetic diseases REEP1-related disorder Neuronopathy, distal hereditary motor, type 5B Condition: not provided Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA115245	rs_377637314	12 SubmittersRCV000001938 RCV003258655 RCV003904794 RCV001333150 RCV001703411 RCV001847563 RCV005417408
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)	SNV Germline	Chr2:86282216	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 31 Condition: not provided Spastic paraplegia Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA115247	rs_121918262	8 SubmittersRCV000001939 RCV000713454 RCV001003951 RCV004955248 RCV001847564
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)	SNV Germline	Chr2:86252037	Pathogenic	Hereditary spastic paraplegia 31 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115251	rs_121918263	8 SubmittersRCV000001940 RCV001847565 RCV002243614
NM_020435.4(GJC2):c.108C>G (p.Ile36Met)	SNV Germline	Chr1:228157866	Pathogenic	Hereditary spastic paraplegia 44	Criteria Provided Single Submitter	CA115336	rs_75469429	2 SubmittersRCV000002159
NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg)	SNV Germline	Chr15:22786790	Pathogenic	Hereditary spastic paraplegia 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115591	rs_104894496	3 SubmittersRCV000002628 RCV004719611
NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)	SNV Germline	Chr15:22812252	Pathogenic	Hereditary spastic paraplegia 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115593	rs_104894490	3 SubmittersRCV000002629 RCV006277635
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	SNV Germline	Chr15:22812252	Pathogenic	Hereditary spastic paraplegia 6 Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA115595	rs_104894490	16 SubmittersRCV000002631 RCV000713477 RCV001003981 RCV000516051
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	SNV Germline	Chr14:50613343	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Condition: not provided Spastic paraplegia Hereditary spastic paraplegia Neuropathy, hereditary sensory, type 1D Hereditary spastic paraplegia 3A	Criteria Provided Multiple Submitters No Conflicts	CA340228	rs_119476046	23 SubmittersRCV000004594 RCV000215830 RCV001003978 RCV001847579 RCV000850530
NM_015915.5(ATL1):c.776C>A (p.Ser259Tyr)	SNV Germline	Chr14:50614425	Pathogenic	Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA253127	rs_119476047	2 SubmittersRCV000004595
NM_015915.5(ATL1):c.773A>G (p.His258Arg)	SNV Germline	Chr14:50614422	Pathogenic	Hereditary spastic paraplegia 3A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340230	rs_119476048	4 SubmittersRCV000004596 RCV006456600
NM_015915.5(ATL1):c.650G>A (p.Arg217Gln)	SNV Germline	Chr14:50613278	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253129	rs_119476049	6 SubmittersRCV000004597 RCV001725929
NM_015915.5(ATL1):c.1222A>G (p.Met408Val)	SNV Germline	Chr14:50628133	Pathogenic	Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA340232	rs_28939094	4 SubmittersRCV000004599
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)	SNV Germline	Chr14:50628154	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204596	rs_119476050	13 SubmittersRCV000004600 RCV000190652 RCV001090532
NM_015915.5(ATL1):c.470T>G (p.Leu157Trp)	SNV Germline	Chr14:50591587	Pathogenic	Hereditary spastic paraplegia 3A	No Assertion Criteria Provided	CA340234	rs_119476051	2 SubmittersRCV000004601
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)	SNV Germline	Chr11:62692413	Pathogenic	Congenital generalized lipodystrophy type 2 Charcot-Marie-Tooth disease type 2 Berardinelli-Seip congenital lipodystrophy Severe neurodegenerative syndrome with lipodystrophy Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5C Congenital generalized lipodystrophy type 2	Criteria Provided Multiple Submitters No Conflicts	CA277926	rs_137852971	5 SubmittersRCV000004797 RCV003581554 RCV003311642 RCV005049316
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	SNV Germline	Chr11:62702493	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 17 Condition: not provided Neuronopathy, distal hereditary motor, type 5A Hereditary spastic paraplegia 17 Charcot-Marie-Tooth disease type 2 Neuronopathy, distal hereditary motor, type 5C Abnormal central motor function Berardinelli-Seip congenital lipodystrophy BSCL2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116912	rs_137852973	15 SubmittersRCV000004803 RCV000235980 RCV000755016 RCV000547334 RCV001270681 RCV001813950 RCV003311647 RCV004766979
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	SNV Germline	Chr13:23336372	Pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA340433	rs_281865118	13 SubmittersRCV000005848 RCV001268308 RCV001851681 RCV001847584
NM_014946.4(SPAST):c.1085C>G (p.Ser362Cys)	SNV Germline	Chr2:32116199	Pathogenic	Hereditary spastic paraplegia 4	No Assertion Criteria Provided	CA253546	rs_121908509	1 SubmittersRCV000006011
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr)	SNV Germline	Chr2:32136898	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253548	rs_121908510	3 SubmittersRCV000006012 RCV004589497
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)	SNV Germline	Chr2:32141905	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Spastic paraparesis Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA253551	rs_121908511	15 SubmittersRCV000006014 RCV000415256 RCV000523541 RCV001847585
NM_014946.4(SPAST):c.1688-2A>G	SNV Germline	Chr2:32147216	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253553	rs_587777752	5 SubmittersRCV000006015 RCV001091365
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)	SNV Germline	Chr2:32136877	Pathogenic	Hereditary spastic paraplegia 4 Tics Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253555	rs_121908512	5 SubmittersRCV000006018 RCV001849258 RCV004719628
NM_014946.4(SPAST):c.1728+1G>C	SNV Germline	Chr2:32147259	Pathogenic	Hereditary spastic paraplegia 4	No Assertion Criteria Provided	CA253557	rs_587777754	1 SubmittersRCV000006019
NM_014946.4(SPAST):c.1245+4A>G	SNV Germline	Chr2:32128483	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253558	rs_587777755	3 SubmittersRCV000006020 RCV003225018
NM_014946.4(SPAST):c.1031T>A (p.Ile344Lys)	SNV Germline	Chr2:32116145	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Single Submitter	CA253560	rs_121908513	2 SubmittersRCV000006022 RCV005639066
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)	SNV Germline	Chr2:32127006	Pathogenic	Hereditary spastic paraplegia 4 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA253562	rs_121908514	4 SubmittersRCV000006023 RCV001847586
NM_014946.4(SPAST):c.1409A>T (p.Asp470Val)	SNV Germline	Chr2:32136964	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Single Submitter	CA253564	rs_121908516	2 SubmittersRCV000006024
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)	SNV Germline	Chr2:32063965	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 4 Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA117671	rs_121908517	8 SubmittersRCV000006026 RCV000584902 RCV000845266 RCV001847588 RCV004998076
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly)	SNV Germline	Chr2:32145004	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Single Submitter	CA253566	rs_121908518	2 SubmittersRCV000006027
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)	SNV Germline	Chr2:32128450	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA253568	rs_587777757	8 SubmittersRCV000006029 RCV000497406 RCV001847589
NM_014946.4(SPAST):c.1335C>A (p.Ser445Arg)	SNV Germline	Chr2:32136890	Pathogenic	Hereditary spastic paraplegia 4	No Assertion Criteria Provided	CA253570	rs_121908519	1 SubmittersRCV000006030
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)	SNV Germline	Chr8:64604753	Pathogenic	Hereditary spastic paraplegia 5A Congenital bile acid synthesis defect 3 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA117938	rs_72554620	6 SubmittersRCV000006474 RCV000006473 RCV000800899
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)	SNV Germline	Chr8:64604827	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 5A Hereditary spastic paraplegia Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210940	rs_121908610	5 SubmittersRCV000006475 RCV001847590 RCV003750776 RCV006250234
NM_004820.5(CYP7B1):c.169G>A (p.Gly57Arg)	SNV Germline	Chr8:64624493	Pathogenic	Hereditary spastic paraplegia 5A	No Assertion Criteria Provided	CA210941	rs_121908614	1 SubmittersRCV000006476
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)	SNV Germline	Chr8:64596913	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 5A Spastic paraplegia Condition: not provided Hereditary spastic paraplegia CYP7B1-related disorder Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia 5A	Criteria Provided Multiple Submitters No Conflicts	CA210942	rs_121908611	9 SubmittersRCV000006477 RCV000206595 RCV000329074 RCV001847591 RCV003894794 RCV005041995
NM_004820.5(CYP7B1):c.647T>C (p.Phe216Ser)	SNV Germline	Chr8:64615894	Pathogenic	Hereditary spastic paraplegia 5A	No Assertion Criteria Provided	CA210943	rs_121908612	1 SubmittersRCV000006478
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)	SNV Germline	Chr8:64615716	Pathogenic	Hereditary spastic paraplegia 5A Condition: not provided Hereditary spastic paraplegia Spastic paraplegia Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia 5A	Criteria Provided Multiple Submitters No Conflicts	CA210944	rs_121908613	15 SubmittersRCV000006479 RCV000260437 RCV000515995 RCV000553161 RCV005049318
NM_004820.5(CYP7B1):c.1408T>A (p.Phe470Ile)	SNV Germline	Chr8:64596755	Pathogenic	Hereditary spastic paraplegia 5A	No Assertion Criteria Provided	CA210946	rs_267606758	1 SubmittersRCV000006480
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	SNV Germline	Chr8:64596707	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 5A Spastic paraplegia Condition: not provided Hereditary spastic paraplegia Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia 5A CHD7-related CHARGE syndrome CYP7B1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210948	rs_116171274	26 SubmittersRCV000006481 RCV000197085 RCV000290486 RCV000516130 RCV002476935 RCV006635413 RCV003398453
NM_004733.4(SLC33A1):c.339T>G (p.Ser113Arg)	SNV Germline	Chr3:155853659	Pathogenic	Hereditary spastic paraplegia 42	No Assertion Criteria Provided	CA117967	rs_121909484	1 SubmittersRCV000006506
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)	SNV Germline	Chr19:7556507	Pathogenic	Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome	No Assertion Criteria Provided	CA118368	rs_121434415	2 SubmittersRCV000006984 RCV001559128
NM_001166114.2(PNPLA6):c.2783G>A (p.Arg928His)	SNV Germline	Chr19:7555041	Pathogenic	Hereditary spastic paraplegia 39	No Assertion Criteria Provided	CA118370	rs_121434416	1 SubmittersRCV000006985
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)	SNV Germline	Chr12:57569015	Pathogenic	Hereditary spastic paraplegia 10	Criteria Provided Single Submitter	CA118520	rs_121434441	2 SubmittersRCV000007208
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	SNV Germline	Chr12:57569274	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 10 Spastic paraplegia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA118521	rs_121434442	9 SubmittersRCV000007209 RCV001387529 RCV000993045 RCV001847593
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)	SNV Germline	Chr12:57569263	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia KIF5A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA118522	rs_121434443	5 SubmittersRCV000007210 RCV000518461 RCV000534416 RCV004766984
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)	SNV Germline	Chr12:57569648	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 10 not specified Spastic paraplegia KIF5A-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA118523	rs_121434444	5 SubmittersRCV000007211 RCV001175553 RCV001066186 RCV004737140 RCV003456358
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)	SNV Germline	Chr16:89553932	Likely pathogenic	Hereditary spastic paraplegia 7	Criteria Provided Single Submitter	CA253965	rs_121918357	2 SubmittersRCV000007217
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	SNV Germline	Chr16:89510539	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Proximal spinal muscular atrophy Hereditary spastic paraplegia Retinal dystrophy SPG7-related disorder Hereditary ataxia	Criteria Provided Multiple Submitters No Conflicts	CA253966	rs_121918358	33 SubmittersRCV000007218 RCV000200640 RCV000664258 RCV001847594 RCV004814852 RCV004752689 RCV005624679
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	SNV Germline	Chr16:89531961	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases SPG7-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253968	rs_141659620	41 SubmittersRCV000007221 RCV000198037 RCV001847595 RCV002512867 RCV004752690 RCV004814853
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)	SNV Germline	Chr16:89550579	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253969	rs_267607085	7 SubmittersRCV000007222 RCV000996411
NC_012920.1(MT-TK):m.8344A>G	SNV Germline	ChrMT:8344	Pathogenic	MERRF syndrome Parkinson disease, mitochondrial Leigh syndrome Condition: not provided Mitochondrial disease MELAS syndrome MT-TK-related mitochondrial disorder MT-TK-related disorder Complex hereditary spastic paraplegia Thrombocythemia 2 Primary Mitochondrial Disorders	Reviewed By Expert Panel	CA254836	rs_118192098	19 SubmittersRCV000010192 RCV000010194 RCV000010193 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290 RCV004766996 RCV005862705 RCV006555292
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:134377619	Pathogenic	Borjeson-Forssman-Lehmann syndrome Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121334	rs_132630300	7 SubmittersRCV000011817 RCV002286694 RCV002512974
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)	SNV Germline	ChrX:103785621	Pathogenic/Likely pathogenic	Pelizaeus-Merzbacher disease Hereditary spastic paraplegia 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255678	rs_11543022	4 SubmittersRCV000011824 RCV001851798 RCV005222680
NM_000533.5(PLP1):c.560T>C (p.Ile187Thr)	SNV Germline	ChrX:103787904	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Multiple Submitters No Conflicts	CA255701	rs_132630288	3 SubmittersRCV000011834 RCV004595482
NM_000533.5(PLP1):c.3G>A (p.Met1Ile)	SNV Germline	ChrX:103776998	Pathogenic	Pelizaeus-Merzbacher disease, mild Hereditary spastic paraplegia 2	Criteria Provided Single Submitter	CA121352	rs_132630290	2 SubmittersRCV000011836 RCV001851799
NM_000533.5(PLP1):c.710T>C (p.Phe237Ser)	SNV Germline	ChrX:103789346	Likely pathogenic	Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Single Submitter	CA255707	rs_132630291	2 SubmittersRCV000011838 RCV004595483
NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)	SNV Germline	ChrX:103786707	Pathogenic/Likely pathogenic	Pelizaeus-Merzbacher disease, atypical Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Multiple Submitters No Conflicts	CA121354	rs_132630292	3 SubmittersRCV000011839 RCV000801130 RCV004595484
NM_000533.5(PLP1):c.509C>T (p.Ser170Phe)	SNV Germline	ChrX:103787853	Likely pathogenic	Hereditary spastic paraplegia 2 Condition: not provided	Criteria Provided Single Submitter	CA255710	rs_132630294	2 SubmittersRCV000011841 RCV001786328
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp)	SNV Germline	ChrX:103786682	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease not specified	Criteria Provided Conflicting Classifications	CA255713	rs_132630295	4 SubmittersRCV000011847 RCV004595485 RCV006263625
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	SNV Germline	Chr15:89327201	Pathogenic/Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Spinocerebellar ataxia with epilepsy Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Condition: not provided POLG-related disorder Mitochondrial disease Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Tip-toe gait Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Neurodevelopmental delay Hereditary spastic paraplegia Inborn genetic diseases Intellectual disability See cases	Criteria Provided Multiple Submitters No Conflicts	CA123140	rs_113994095	55 SubmittersRCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000184011 RCV000188658 RCV000347876 RCV000508942 RCV001004604 RCV001198082 RCV001376079 RCV001813983 RCV001731286 RCV002273931 RCV001847600 RCV002316195 RCV005624689 RCV005887499
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	SNV Germline	Chr15:89321792	Pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Condition: not provided POLG-related disorder Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Mitochondrial disease Inborn genetic diseases Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 6 conditions Possible mitochondrial disorder - nuclear genes Mitochondrial DNA maintenance disorder	Criteria Provided Multiple Submitters No Conflicts	CA123144	rs_113994098	39 SubmittersRCV000014449 RCV000014450 RCV000014451 RCV000014452 RCV000188580 RCV000363602 RCV000678386 RCV001027839 RCV002054437 RCV002272018 RCV002313707 RCV001847601 RCV003230362 RCV005364878 RCV006649843 RCV006697617
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	SNV Germline	Chr15:89330184	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 1 Progressive sclerosing poliodystrophy Condition: not provided not specified POLG-related disorder Global developmental delay Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Tip-toe gait Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Hereditary spastic paraplegia Abnormality of the nervous system Inborn genetic diseases Mitochondrial disease Hypertrophic cardiomyopathy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b See cases Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b 6 conditions Mitochondrial DNA depletion syndrome	Criteria Provided Conflicting Classifications	CA123142	rs_113994094	51 SubmittersRCV000014448 RCV000014447 RCV000020484 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001678594 RCV001642225 RCV001847602 RCV001813985 RCV002313708 RCV002272019 RCV002319423 RCV003458331 RCV004584325 RCV005007846 RCV005357125 RCV005406744
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	SNV Germline	Chr15:89325639	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 4b Mitochondrial DNA depletion syndrome 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 not specified Progressive sclerosing poliodystrophy Global developmental delay Condition: not provided Mitochondrial disease Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Tip-toe gait Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Abnormality of the nervous system Hereditary spastic paraplegia Inborn genetic diseases Hypertrophic cardiomyopathy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b See cases 6 conditions POLG-related disorder	Criteria Provided Conflicting Classifications	CA123146	rs_113994096	52 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000408293 RCV000415307 RCV000427845 RCV000508752 RCV001004602 RCV001610290 RCV001642226 RCV001813986 RCV001847603 RCV002313709 RCV002319424 RCV003458332 RCV004584326 RCV005357126 RCV006439572
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	SNV Germline	Chr15:89323460	Pathogenic/Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder Mitochondrial disease Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Hereditary spastic paraplegia Inborn genetic diseases Tip-toe gait 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA201029	rs_121918054	39 SubmittersRCV000014467 RCV000188568 RCV000233045 RCV000370280 RCV000508744 RCV000768053 RCV001004601 RCV001813987 RCV001847605 RCV002316196 RCV003318542 RCV005862713
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	SNV Germline	Chr20:58905443	Pathogenic	Pseudohypoparathyroidism Condition: not provided Hereditary spastic paraplegia 4 Pseudohypoparathyroidism type I A	Criteria Provided Multiple Submitters No Conflicts	CA126062	rs_137854532	6 SubmittersRCV000017286 RCV002054444 RCV001729350 RCV002288507
NM_002156.5(HSPD1):c.292G>A (p.Val98Ile)	SNV Germline	Chr2:197497275	Pathogenic	Hereditary spastic paraplegia 13	Criteria Provided Single Submitter	CA127251	rs_66468541	2 SubmittersRCV000019112
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)	SNV Germline	Chr15:89328996	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder Hereditary spastic paraplegia Inborn genetic diseases Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA292863	rs_2307437	18 SubmittersRCV000127555 RCV000468571 RCV000710190 RCV001121509 RCV001847613 RCV002371780 RCV005624701
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)	SNV Germline	Chr14:50591584	Pathogenic	Hereditary spastic paraplegia 3A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342181	rs_137852657	4 SubmittersRCV000020721 RCV000713455
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)	SNV Germline	Chr2:240788118	Pathogenic	Intellectual disability, autosomal dominant 9 PEHO syndrome Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 KIF1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA212601	rs_387906799	10 SubmittersRCV000023087 RCV000207102 RCV000235916 RCV000690609 RCV004541014
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)	SNV Germline	Chr7:100104125	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 50 Spastic paraplegia AP-4 deficiency syndrome	Criteria Provided Multiple Submitters No Conflicts	CA342728	rs_387906838	4 SubmittersRCV000023191 RCV001849279 RCV006439583
NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)	SNV Germline	Chr14:50587992	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory, type 1D Condition: not provided Hereditary spastic paraplegia 3A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA129352	rs_200314808	6 SubmittersRCV000023543 RCV000236565 RCV000543629 RCV002415427
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)	SNV Germline	Chr14:50628157	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided Neuropathy, hereditary sensory, type 1D Hereditary spastic paraplegia 3A Neuropathy, hereditary sensory, type 1D	Criteria Provided Multiple Submitters No Conflicts	CA259834	rs_387906941	11 SubmittersRCV000023545 RCV001847621 RCV002513195 RCV002285257 RCV005862734 RCV004767019
NM_020435.4(GJC2):c.-167A>G	SNV Germline	Chr1:228149860	Pathogenic/Likely pathogenic	Hypomyelinating leukodystrophy 2 Spastic paraplegia Condition: not provided Hereditary spastic paraplegia 44 autosomal recessive GJC2-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA129449	rs_587776888	7 SubmittersRCV000023738 RCV000633051 RCV001781305 RCV005867796 RCV006699179
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)	SNV Germline	Chr16:74719071	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 35 not specified Condition: not provided Intellectual disability	Criteria Provided Conflicting Classifications	CA259927	rs_387907039	6 SubmittersRCV000023855 RCV001797590 RCV002509169 RCV005624706
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)	SNV Germline	Chr16:74727290	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 35 Condition: not provided Neurodegeneration with brain iron accumulation Spastic paraplegia	Criteria Provided Conflicting Classifications	CA259930	rs_387907040	7 SubmittersRCV000023857 RCV000483483 RCV003317044 RCV002513207
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)	SNV Germline	Chr14:67772109	Pathogenic	Hereditary spastic paraplegia 15 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA129542	rs_387907057	3 SubmittersRCV000023921 RCV001852032
NM_031448.6(C19orf12):c.-2C>T	SNV Germline	Chr19:29708415	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Condition: not provided Abnormality of iron homeostasis Neurodegeneration with brain iron accumulation Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43	Criteria Provided Multiple Submitters No Conflicts	CA342784	rs_397514477	15 SubmittersRCV000024152 RCV000426086 RCV001004003 RCV004700277 RCV003743545 RCV005016294
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)	SNV Germline	Chr19:29702966	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Adult-onset night blindness Peripheral visual field loss Dystonic disorder Mental deterioration Tremor Hereditary spastic paraplegia 43 Condition: not provided Neurodegeneration with brain iron accumulation Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4	Criteria Provided Multiple Submitters No Conflicts	CA345637	rs_515726205	11 SubmittersRCV000024153 RCV000414809 RCV000528859 RCV001781312 RCV003230372 RCV005016295
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	SNV Germline	Chr19:29702747	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 4 Mental deterioration Dystonic disorder Tremor Adult-onset night blindness Peripheral visual field loss Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Condition: not provided Hereditary spastic paraplegia 5A Hereditary spastic paraplegia 43 not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA259994	rs_146170087	16 SubmittersRCV000024154 RCV000415210 RCV000509226 RCV000553096 RCV000714889 RCV001083182 RCV001844017 RCV001847623
NM_024306.5(FA2H):c.707T>C (p.Phe236Ser)	SNV Germline	Chr16:74719067	Pathogenic	Hereditary spastic paraplegia 35	No Assertion Criteria Provided	CA260036	rs_387907172	1 SubmittersRCV000024321
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)	SNV Germline	Chr2:240773246	Likely pathogenic	Hereditary spastic paraplegia 30 Spastic paraplegia 30B, autosomal recessive	Criteria Provided Single Submitter	CA130024	rs_387907259	2 SubmittersRCV000030681 RCV004584597
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)	SNV Germline	Chr3:100748182	Pathogenic/Likely pathogenic	Hereditary motor and sensory neuropathy, Okinawa type Condition: not provided Hereditary spastic paraplegia 57 Hereditary motor and sensory neuropathy, Okinawa type Amyotrophic Lateral Sclerosis with Sensory Neuropathy See cases	Criteria Provided Multiple Submitters No Conflicts	CA130077	rs_207482230	8 SubmittersRCV000030736 RCV000218755 RCV000642397 RCV001095428 RCV002251934
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)	SNV Germline	Chr12:57568999	Pathogenic	Hereditary spastic paraplegia 10 Spastic paraplegia Condition: not provided Myoclonus, intractable, neonatal	Criteria Provided Multiple Submitters No Conflicts	CA130084	rs_387907285	9 SubmittersRCV000030758 RCV000205648 RCV000756292 RCV004767023
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)	SNV Germline	Chr12:57576825	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA130085	rs_387907286	4 SubmittersRCV000030759 RCV000498777 RCV001852613 RCV004525859
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)	SNV Germline	Chr12:57567515	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 10 Spastic paraplegia Myoclonus, intractable, neonatal Condition: not provided KIF5A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130087	rs_387907287	14 SubmittersRCV000030760 RCV000168349 RCV001196631 RCV001682718 RCV002468980
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)	SNV Germline	Chr12:57569275	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 10 Hereditary spastic paraplegia Condition: not provided Spastic paraplegia Demyelinating peripheral neuropathy	Criteria Provided Multiple Submitters No Conflicts	CA130088	rs_387907288	10 SubmittersRCV000030761 RCV000515919 RCV001268862 RCV001061322 RCV002051649
NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu)	SNV Germline	Chr12:57567608	Likely pathogenic	Hereditary spastic paraplegia 10 Condition: not provided	Criteria Provided Single Submitter	CA130089	rs_387907289	2 SubmittersRCV000030762 RCV004719665
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	SNV Germline	Chr1:9982630	Pathogenic/Likely pathogenic	Leber congenital amaurosis 9 Condition: not provided Leber congenital amaurosis 7 conditions Retinal dystrophy Inborn genetic diseases NMNAT1-related disorder Retinal disorder autosomal recessive NMNAT1-related disorders. Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis Leber congenital amaurosis 9 Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis Cone-rod dystrophy Autosomal recessive NMNAT1-related disorders Hereditary Spastic Paraplegia (HSP)	Criteria Provided Multiple Submitters No Conflicts	CA342906	rs_150726175	26 SubmittersRCV000030765 RCV000255806 RCV000504859 RCV001003567 RCV001075816 RCV004639123 RCV004757953 RCV006255132 RCV006633889 RCV006683976 RCV005394179 RCV005624712 RCV006634295 RCV006708322
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)	SNV Germline	Chr4:107945426	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 56 Neurodegeneration Global developmental delay Spastic paraplegia Condition: not provided CYP2U1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130341	rs_397514513	13 SubmittersRCV000032696 RCV000162142 RCV000162185 RCV000442087 RCV004751232
NM_183075.3(CYP2U1):c.1139A>G (p.Glu380Gly)	SNV Germline	Chr4:107947388	Pathogenic	Hereditary spastic paraplegia 56	No Assertion Criteria Provided	CA130342	rs_397514514	1 SubmittersRCV000032697
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)	SNV Germline	Chr4:107945263	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 56	Criteria Provided Multiple Submitters No Conflicts	CA130343	rs_397514515	3 SubmittersRCV000032699
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)	SNV Germline	Chr4:107950250	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 56 Spastic paraplegia Hereditary spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130344	rs_141431913	7 SubmittersRCV000032700 RCV000814689 RCV001847627 RCV002264909
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)	SNV Germline	Chr12:123256924	Pathogenic	Hereditary spastic paraplegia 55 Condition: not provided Combined oxidative phosphorylation defect type 7 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA130375	rs_397514539	4 SubmittersRCV000032782 RCV000733240 RCV002228073
NM_001160148.2(DDHD1):c.1766G>A (p.Arg589Gln)	SNV Germline	Chr14:53062943	Pathogenic	Hereditary spastic paraplegia 28 Cervical cancer	No Assertion Criteria Provided	CA389762429	rs_1446744416	2 SubmittersRCV000032875 RCV005888871
NM_001160148.2(DDHD1):c.1249C>T (p.Gln417Ter)	SNV Germline	Chr14:53091825	Pathogenic	Hereditary spastic paraplegia 28	No Assertion Criteria Provided	CA389766962	rs_2139675094	1 SubmittersRCV000032877
NM_001160148.2(DDHD1):c.2522-1G>T	SNV Germline	Chr14:53046950	Pathogenic	Hereditary spastic paraplegia 28	No Assertion Criteria Provided	CA389767635	rs_2139806225	1 SubmittersRCV000032878
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	SNV Germline	Chr8:38253642	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 54 Generalized epilepsy Obesity Global developmental delay Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA130449	rs_375168720	14 SubmittersRCV000032883 RCV000449619 RCV001569601 RCV001847628 RCV004975267
NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter)	SNV Germline	Chr8:38252216	Pathogenic	Hereditary spastic paraplegia 54	Criteria Provided Multiple Submitters No Conflicts	CA130451	rs_373856119	4 SubmittersRCV000032884
NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)	SNV Germline	Chr8:38245752	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 54 Condition: not provided	No Assertion Criteria Provided	CA130453	rs_398122826	4 SubmittersRCV000032885 RCV001529426
NM_152415.3(VPS37A):c.1146A>T (p.Lys382Asn)	SNV Germline	Chr8:17286379	Pathogenic	Hereditary spastic paraplegia 53	No Assertion Criteria Provided	CA213061	rs_211694394	1 SubmittersRCV000032956
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	SNV Germline	Chr15:44651712	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA344293	rs_312262723	7 SubmittersRCV000034170 RCV005007926
NM_025137.4(SPG11):c.1457-2A>G	SNV Germline	Chr15:44649013	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Thymoma	Criteria Provided Multiple Submitters No Conflicts	CA344297	rs_312262726	6 SubmittersRCV000034173 RCV001847631 RCV005007927 RCV005888918
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)	SNV Germline	Chr15:44633561	Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Single Submitter	CA344304	rs_312262732	2 SubmittersRCV000034180 RCV003441725
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)	SNV Germline	Chr15:44628785	Pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Condition: not provided Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344310	rs_199588440	11 SubmittersRCV000034185 RCV003317055 RCV004589527 RCV004767028
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	SNV Germline	Chr15:44626429	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344312	rs_312262737	8 SubmittersRCV000034186 RCV000414282 RCV001807747
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)	SNV Germline	Chr15:44626377	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	No Assertion Criteria Provided	CA277006	rs_312262739	2 SubmittersRCV000034188 RCV000192703
NM_025137.4(SPG11):c.2316+1G>A	SNV Germline	Chr15:44622727	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia SPG11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344315	rs_312262740	10 SubmittersRCV000034189 RCV000713416 RCV001847632 RCV004748544
NM_025137.4(SPG11):c.2444+1G>C	SNV Germline	Chr15:44622219	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344317	rs_312262743	4 SubmittersRCV000034191 RCV006698008
NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)	SNV Germline	Chr15:44621771	Pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia	Criteria Provided Single Submitter	CA344320	rs_312262745	2 SubmittersRCV000034194 RCV004799754
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	SNV Germline	Chr15:44660607	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA277361	rs_312262709	11 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485 RCV005007929
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)	SNV Germline	Chr15:44620191	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA344327	rs_312262748	3 SubmittersRCV000034199 RCV005007931
NM_025137.4(SPG11):c.2834+1G>T	SNV Germline	Chr15:44620189	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA344329	rs_312262749	10 SubmittersRCV000034200 RCV001836722 RCV003458191 RCV005007932 RCV005742009
NM_025137.4(SPG11):c.3291+1G>T	SNV Germline	Chr15:44610839	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344332	rs_312262753	4 SubmittersRCV000034205 RCV001270133
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)	SNV Germline	Chr15:44660525	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA344333	rs_312262711	2 SubmittersRCV000034207
NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)	SNV Germline	Chr15:44589312	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Single Submitter	CA344349	rs_312262762	2 SubmittersRCV000034220 RCV004794351
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)	SNV Germline	Chr15:44584210	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided SPG11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344354	rs_312262767	6 SubmittersRCV000034225 RCV000731318 RCV005867812
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	SNV Germline	Chr15:44574934	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277266	rs_200793464	4 SubmittersRCV000034234 RCV000194146 RCV000255514
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)	SNV Germline	Chr15:44574931	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344365	rs_312262774	3 SubmittersRCV000034235 RCV005007933 RCV005600627
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	SNV Germline	Chr15:44573661	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia SPG11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344370	rs_147713329	12 SubmittersRCV000034241 RCV001092496 RCV001331384 RCV001847636 RCV005229845
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)	SNV Germline	Chr15:44573595	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA344372	rs_149003934	8 SubmittersRCV000034242 RCV000594035 RCV002467534 RCV002477051 RCV002467533
NM_025137.4(SPG11):c.6206-1G>C	SNV Germline	Chr15:44572821	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA344374	rs_312262778	2 SubmittersRCV000034243
NM_025137.4(SPG11):c.6477+4A>G	SNV Germline	Chr15:44570521	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA344377	rs_312262780	6 SubmittersRCV000034246 RCV001847637 RCV002467536 RCV002467535
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)	SNV Germline	Chr15:44565997	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Metabolic disease	Criteria Provided Multiple Submitters No Conflicts	CA344384	rs_312262785	11 SubmittersRCV000034254 RCV001546365 RCV001847638 RCV002362611 RCV004767030 RCV005624720
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)	SNV Germline	Chr15:44564675	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA344390	rs_80338869	7 SubmittersRCV000034258 RCV000421146 RCV001847639
NM_025137.4(SPG11):c.869+1G>A	SNV Germline	Chr15:44657094	Pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA344399	rs_312262721	4 SubmittersRCV000034268
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)	SNV Germline	Chr15:44648976	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344461	rs_312262728	5 SubmittersRCV000034301 RCV001092499
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)	SNV Germline	Chr9:35738811	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 46 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130873	rs_398123012	4 SubmittersRCV000034369 RCV000515985 RCV005638409
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)	SNV Germline	Chr9:35741758	Pathogenic	Hereditary spastic paraplegia 46 Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA130874	rs_398123013	5 SubmittersRCV000034370 RCV001268639 RCV005055533
NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter)	SNV Germline	Chr9:35740833	Pathogenic	Hereditary spastic paraplegia 46 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA130876	rs_398123014	3 SubmittersRCV000034373 RCV001043691
NM_020944.3(GBA2):c.2618G>A (p.Arg873His)	SNV Germline	Chr9:35737335	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 46 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA130878	rs_398123015	3 SubmittersRCV000034374 RCV000515888
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Hereditary spastic paraplegia Inborn genetic diseases Spastic paraparesis Dysarthria Gait ataxia Cerebral cortical atrophy Intellectual disability Spastic ataxia Sensorimotor neuropathy SPG7-related disorder Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Uterine corpus endometrial carcinoma Retinal dystrophy Ovarian serous cystadenocarcinoma Thymoma Thyroid cancer, nonmedullary, 1 Melanoma Acute myeloid leukemia Clear cell carcinoma of kidney Sarcoma Hepatocellular carcinoma Cervical cancer Optic neuropathy Uveal melanoma Gastric cancer Lung cancer Familial cancer of breast Possible mitochondrial disorder - nuclear genes Mitochondrial DNA maintenance disorder	Criteria Provided Multiple Submitters No Conflicts	CA090884	rs_61755320	73 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000850200 RCV001003619 RCV003421943 RCV002463623 RCV005888966 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV006700620 RCV006700621
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)	SNV Germline	Chr9:92719122	Conflicting classifications of pathogenicity	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Hereditary spastic paraplegia 3A	No Assertion Criteria Provided	CA143972	rs_398123031	2 SubmittersRCV000049278 RCV003311674
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)	SNV Germline	Chr14:50628155	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 3A Condition: not provided	Criteria Provided Conflicting Classifications	CA264213	rs_397514712	4 SubmittersRCV000050231 RCV000480817
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)	SNV Germline	Chr12:57630182	Pathogenic	Hereditary spastic paraplegia 26 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA144547	rs_398122382	6 SubmittersRCV000054420 RCV005089450
NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)	SNV Germline	Chr12:57631225	Pathogenic	Hereditary spastic paraplegia 26 Condition: not provided	Criteria Provided Single Submitter	CA10575594	rs_879255241	2 SubmittersRCV000054422 RCV000760467
NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)	SNV Germline	Chr12:57627704	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 26	No Assertion Criteria Provided	CA10575595	rs_879255242	2 SubmittersRCV000054423
NM_015375.3(DSTYK):c.654+1G>A	SNV Germline	Chr1:205187417	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Condition: not provided Hereditary spastic paraplegia 23 DSTYK-related disorder Chronic lymphocytic leukemia/small lymphocytic lymphoma Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA1353006	rs_201091809	7 SubmittersRCV000054497 RCV001853078 RCV003387748 RCV003905015 RCV005890367 RCV005890366
NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala)	SNV Germline	Chr8:125055601	Pathogenic	Hereditary spastic paraplegia 8	No Assertion Criteria Provided	CA345045	rs_397515564	2 SubmittersRCV000055943
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)	SNV Germline	Chr12:57576834	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia not specified Hereditary spastic paraplegia KIF5A-related disorder	Criteria Provided Conflicting Classifications	CA6653063	rs_140281678	12 SubmittersRCV000389116 RCV000522245 RCV001084410 RCV001287992 RCV001847646 RCV004549495
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)	SNV Germline	Chr12:123256945	Likely pathogenic	Hereditary spastic paraplegia 55	Criteria Provided Single Submitter	CA145384	rs_398122365	2 SubmittersRCV000074452
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)	SNV Germline	Chr19:29708260	Conflicting classifications of pathogenicity	Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43 Condition: not provided Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA145387	rs_376103979	9 SubmittersRCV000074454 RCV000074453 RCV000493663 RCV005025116 RCV006342100
NM_007175.8(ERLIN2):c.499-1G>T	SNV Germline	Chr8:37749793	Pathogenic	Hereditary spastic paraplegia 18	No Assertion Criteria Provided	CA145505	rs_398123002	1 SubmittersRCV000077785
NM_020944.3(GBA2):c.1780G>C (p.Asp594His)	SNV Germline	Chr9:35739017	Likely pathogenic	Hereditary spastic paraplegia 46	Criteria Provided Single Submitter	CA145524	rs_398123064	2 SubmittersRCV000077800
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)	SNV Germline	ChrX:153866778	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia Inborn genetic diseases Hereditary ataxia	Criteria Provided Conflicting Classifications	CA208427	rs_36021462	15 SubmittersRCV000194324 RCV000439917 RCV001083170 RCV001847649 RCV002313749 RCV005625271
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala)	SNV Germline	ChrX:103789373	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Multiple Submitters No Conflicts	CA221114	rs_398123467	3 SubmittersRCV000079102 RCV000794114 RCV004595494
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)	SNV Germline	ChrX:74422049	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Spastic paraplegia Hereditary spastic paraplegia Inborn genetic diseases SLC16A2-related disorder not specified	Criteria Provided Conflicting Classifications	CA222960	rs_145061343	9 SubmittersRCV000514434 RCV001251643 RCV001087210 RCV001847654 RCV002362728 RCV003905062 RCV006445500
NM_001271803.2(REEP2):c.107T>A (p.Val36Glu)	SNV Germline	Chr5:138441386	Pathogenic	Hereditary spastic paraplegia 72	No Assertion Criteria Provided	CA149705	rs_483352923	1 SubmittersRCV003444057
NM_001377265.1(MAPT):c.2091+16C>T	SNV Germline	Chr17:46010418	Pathogenic	Condition: not provided Mental deterioration Frontotemporal dementia Memory impairment Dementia Frontotemporal dementia MAPT-related disorder Progressive supranuclear palsy-parkinsonism syndrome Adult onset neurodegenerative disorder Adult onset hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA225465	rs_63751011	15 SubmittersRCV000084537 RCV000626753 RCV000626752 RCV000687510 RCV003415858 RCV004593990 RCV006629077 RCV006742281
NM_001351169.2(NT5C2):c.85C>T (p.Arg29Ter)	SNV Germline	Chr10:103174874	Pathogenic	Hereditary spastic paraplegia 45 Condition: not provided	Criteria Provided Single Submitter	CA214457	rs_587777173	2 SubmittersRCV000087268 RCV001310575
NM_001351169.2(NT5C2):c.989-1G>T	SNV Germline	Chr10:103093310	Pathogenic	Hereditary spastic paraplegia 45	No Assertion Criteria Provided	CA10575623	rs_886037657	1 SubmittersRCV000087270
NM_001351169.2(NT5C2):c.445A>T (p.Arg149Ter)	SNV Germline	Chr10:103101271	Pathogenic	Hereditary spastic paraplegia 45	No Assertion Criteria Provided	CA214459	rs_587777174	1 SubmittersRCV000087271
NM_001351169.2(NT5C2):c.175+1G>A	SNV Germline	Chr10:103139405	Pathogenic	Hereditary spastic paraplegia 45	Criteria Provided Single Submitter	CA10575624	rs_886037658	2 SubmittersRCV000087272
NM_006070.6(TFG):c.316C>T (p.Arg106Cys)	SNV Germline	Chr3:100728759	Pathogenic	Hereditary spastic paraplegia 57 Hereditary spastic paraplegia 57 Hereditary motor and sensory neuropathy, Okinawa type Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA150664	rs_587777175	6 SubmittersRCV000087273 RCV001038327 RCV001549766 RCV002321583
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile)	SNV Germline	Chr19:7556502	Pathogenic	Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39	Criteria Provided Single Submitter	CA150705	rs_587777181	2 SubmittersRCV000087297 RCV001854508
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)	SNV Germline	Chr19:7557185	Pathogenic/Likely pathogenic	Ataxia-hypogonadism-choroidal dystrophy syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Hereditary spastic paraplegia 39	Criteria Provided Multiple Submitters No Conflicts	CA150708	rs_587777182	3 SubmittersRCV000087299 RCV001196947 RCV002515780
NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu)	SNV Germline	Chr19:7554578	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 39	No Assertion Criteria Provided	CA150712	rs_587777185	2 SubmittersRCV000087302
NM_006612.6(KIF1C):c.183G>A (p.Ser61=)	SNV Germline	Chr17:5000848	Likely pathogenic	Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Single Submitter	CA10602383	rs_886041035	2 SubmittersRCV000087325 RCV001847658
NM_001776.6(ENTPD1):c.628G>A (p.Gly210Arg)	SNV Germline	Chr10:95845411	Pathogenic	Hereditary spastic paraplegia 64	No Assertion Criteria Provided	CA377823056	rs_1566229309	1 SubmittersRCV000087329
NM_001776.6(ENTPD1):c.520G>T (p.Glu174Ter)	SNV Germline	Chr10:95844582	Pathogenic	Hereditary spastic paraplegia 64	No Assertion Criteria Provided	CA214471	rs_587777200	1 SubmittersRCV000087330
NM_015214.3(DDHD2):c.1057+5C>G	SNV Germline	Chr8:38245955	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 54 Senior-Loken syndrome 6	Criteria Provided Conflicting Classifications	CA10575627	rs_886037659	3 SubmittersRCV000087336 RCV005859504
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)	SNV Germline	Chr8:64615194	Pathogenic	Hereditary spastic paraplegia 5A Spastic paraplegia Condition: not provided CYP7B1-related disorder Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA210987	rs_587777222	9 SubmittersRCV000106302 RCV000200232 RCV000422978 RCV003415876 RCV004782239
NM_002361.4(MAG):c.1288T>G (p.Cys430Gly)	SNV Germline	Chr19:35309930	Pathogenic	Hereditary spastic paraplegia 75	No Assertion Criteria Provided	CA210989	rs_587777229	1 SubmittersRCV000106310
NM_007347.5(AP4E1):c.613C>A (p.His205Asn)	SNV Germline	Chr15:50929079	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Stuttering, familial persistent, 1 Hereditary spastic paraplegia 51 Hereditary spastic paraplegia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA230885	rs_148499164	9 SubmittersRCV000116366 RCV000460419 RCV000763973 RCV001847663 RCV002514584 RCV005434635
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	SNV Germline	Chr11:62690476	Conflicting classifications of pathogenicity	Condition: not provided not specified Congenital generalized lipodystrophy type 2 Neuronopathy, distal hereditary motor, type 5A Monogenic diabetes Charcot-Marie-Tooth disease type 2 Hereditary spastic paraplegia Inborn genetic diseases Congenital generalized lipodystrophy type 2 Hereditary spastic paraplegia 17 Severe neurodegenerative syndrome with lipodystrophy Neuronopathy, distal hereditary motor, type 5C	Criteria Provided Conflicting Classifications	CA200862	rs_145649423	20 SubmittersRCV000116504 RCV000174173 RCV000300263 RCV000357438 RCV000664139 RCV001082147 RCV001847675 RCV002426660 RCV002498501
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)	SNV Germline	Chr2:197498822	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary spastic paraplegia 13 Spastic paraplegia Hereditary spastic paraplegia HSPD1-related disorder	Criteria Provided Conflicting Classifications	CA231170	rs_11551349	11 SubmittersRCV000117241 RCV000195296 RCV000295232 RCV001081749 RCV001847689 RCV003982887
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)	SNV Germline	Chr2:240747320	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA153360	rs_116297894	11 SubmittersRCV000117395 RCV000712145 RCV000760168 RCV001083185 RCV001847697 RCV002312170
NM_001244008.2(KIF1A):c.3202+10C>A	SNV Germline	Chr2:240746029	Conflicting classifications of pathogenicity	Condition: not provided not specified Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30	Criteria Provided Conflicting Classifications	CA231214	rs_190997558	7 SubmittersRCV000117404 RCV000517588 RCV001084551 RCV001136885
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)	SNV Germline	Chr2:240721033	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA153383	rs_371737085	11 SubmittersRCV000117405 RCV000712150 RCV001087763 RCV001136787 RCV002313903
NM_002693.3(POLG):c.264C>T (p.Phe88=)	SNV Germline	Chr15:89333491	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA288984	rs_144439703	18 SubmittersRCV000118014 RCV000227341 RCV000436920 RCV001116623 RCV001847711 RCV002313915
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	SNV Germline	Chr15:89319073	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy 6 conditions EEG abnormality Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia Early-onset Parkinson disease 20 Inborn genetic diseases not specified POLG-related disorder	Criteria Provided Conflicting Classifications	CA231404	rs_150233690	17 SubmittersRCV000118016 RCV000234341 RCV000515366 RCV000678829 RCV002243762 RCV001847713 RCV002272131 RCV002316314 RCV003330442 RCV006439642
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)	SNV Germline	Chr15:44598705	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA155280	rs_76389165	15 SubmittersRCV000118405 RCV000233929 RCV000514902 RCV000515991
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)	SNV Germline	Chr15:44572768	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 not specified Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA231526	rs_150761878	13 SubmittersRCV000118406 RCV000461243 RCV000609000 RCV001847726 RCV002362748 RCV003915170
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	SNV Germline	Chr1:109629487	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia type 9 Hereditary spastic paraplegia 63 Hereditary spastic paraplegia 63 Pontoneocerebellar hypoplasia	Criteria Provided Multiple Submitters No Conflicts	CA156218	rs_587777395	6 SubmittersRCV000119282 RCV002515805 RCV003343648 RCV005431474
NM_021830.5(TWNK):c.639C>T (p.Gly213=)	SNV Germline	Chr10:100988849	Conflicting classifications of pathogenicity	not specified Infantile onset spinocerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Autosomal recessive cerebellar ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA302706	rs_11542130	8 SubmittersRCV000173516 RCV000305599 RCV000301625 RCV000359159 RCV000395926 RCV000676300 RCV001847741
NM_152269.5(MTRFR):c.243C>T (p.Cys81=)	SNV Germline	Chr12:123253917	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA289763	rs_140411575	5 SubmittersRCV000124048 RCV000513045 RCV001088353 RCV001113855 RCV001847743
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)	SNV Germline	Chr12:123256943	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 7 Hereditary spastic paraplegia MTRFR-related disorder	Criteria Provided Conflicting Classifications	CA289765	rs_147328685	7 SubmittersRCV000124049 RCV000513336 RCV001081513 RCV001113859 RCV001847744 RCV003965041
NM_002693.3(POLG):c.2028G>A (p.Ala676=)	SNV Germline	Chr15:89324149	Conflicting classifications of pathogenicity	not specified POLG-related disorder Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292825	rs_373550219	9 SubmittersRCV000127516 RCV000263177 RCV000457002 RCV000710184 RCV001847749 RCV002415616
NM_002693.3(POLG):c.2481-7C>T	SNV Germline	Chr15:89321860	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Tip-toe gait Hereditary spastic paraplegia Paediatric disorders POLG-related disorder	Criteria Provided Conflicting Classifications	CA292830	rs_2307448	17 SubmittersRCV000212876 RCV000474664 RCV000676323 RCV001327991 RCV001847750 RCV006742284 RCV006439658
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)	SNV Germline	Chr15:89320894	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232559	rs_41546712	13 SubmittersRCV000186650 RCV000471041 RCV000712796 RCV001116417 RCV001847751 RCV002316396
NM_002693.3(POLG):c.87C>T (p.Ser29=)	SNV Germline	Chr15:89333668	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy POLG-related disorder Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292838	rs_587781116	9 SubmittersRCV000127532 RCV000861520 RCV001116626 RCV001288358 RCV001847752 RCV002371969
NM_002693.3(POLG):c.3482+6C>T	SNV Germline	Chr15:89318535	Conflicting classifications of pathogenicity	not specified POLG-related disorder Progressive sclerosing poliodystrophy Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA292847	rs_55779802	10 SubmittersRCV000127539 RCV000316461 RCV000559092 RCV000726414 RCV000768049 RCV001847754 RCV003441747
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)	SNV Germline	Chr15:89317455	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA292854	rs_146584956	5 SubmittersRCV000127546 RCV000547592 RCV001847755 RCV003311689
NM_002693.3(POLG):c.1275C>T (p.Ala425=)	SNV Germline	Chr15:89327325	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA292871	rs_147404477	12 SubmittersRCV000127559 RCV000558064 RCV000725687 RCV001847757 RCV002371970 RCV006439659
NM_002693.3(POLG):c.1386G>A (p.Ser462=)	SNV Germline	Chr15:89327214	Conflicting classifications of pathogenicity	not specified POLG-related disorder Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA292873	rs_62640034	7 SubmittersRCV000127560 RCV000402563 RCV000758496 RCV000725999 RCV001847758
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)	SNV Germline	Chr16:89531948	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA293664	rs_116319889	7 SubmittersRCV000128200 RCV000416207 RCV001081406 RCV001847760
NM_003119.4(SPG7):c.1324+10C>T	SNV Germline	Chr16:89532646	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA293666	rs_202070075	7 SubmittersRCV000128201 RCV000713480 RCV001085222 RCV001847761
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)	SNV Germline	Chr16:89546665	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA345675	rs_111475461	11 SubmittersRCV000128202 RCV000585517 RCV000989665 RCV001847762
NM_003119.4(SPG7):c.1664-11C>A	SNV Germline	Chr16:89550483	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA293669	rs_574656941	3 SubmittersRCV000128205 RCV001121647
NM_152269.5(MTRFR):c.282+2T>A	SNV Germline	Chr12:123253958	Pathogenic	Hereditary spastic paraplegia 55	No Assertion Criteria Provided	CA170632	rs_587777668	1 SubmittersRCV000133581
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SNV Germline	Chr9:132264633	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA233108	rs_151117904	16 SubmittersRCV000143819 RCV000251546 RCV000302102 RCV000393538 RCV001080640 RCV001260210 RCV001847770
NM_006070.6(TFG):c.806G>T (p.Gly269Val)	SNV Germline	Chr3:100744917	Pathogenic/Likely pathogenic	Hereditary motor and sensory neuropathy, Okinawa type Hereditary spastic paraplegia 57	No Assertion Criteria Provided	CA170881	rs_587777789	2 SubmittersRCV000144505 RCV004767089
NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys)	SNV Germline	Chr19:7558861	Likely pathogenic	Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39	Criteria Provided Single Submitter	CA170918	rs_587777854	2 SubmittersRCV000144695 RCV003114288
NM_015915.5(ATL1):c.353G>A (p.Arg118Gln)	SNV Germline	Chr14:50591011	Pathogenic	Condition: not provided Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA233267	rs_606231265	2 SubmittersRCV000144894 RCV002514782
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)	SNV Germline	Chr1:113901276	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 47 Condition: not provided Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA345963	rs_376478015	7 SubmittersRCV000145022 RCV001797056 RCV001849319 RCV002514784
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)	SNV Germline	ChrX:153865714	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia Inborn genetic diseases Spastic paraplegia X-linked hydrocephalus syndrome	Criteria Provided Conflicting Classifications	CA172446	rs_149737236	5 SubmittersRCV000431818 RCV001847778 RCV002453468 RCV002515965 RCV006270224
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)	SNV Germline	ChrX:74525834	Pathogenic/Likely pathogenic	Allan-Herndon-Dudley syndrome Condition: not provided Inborn genetic diseases Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA272490	rs_587784384	7 SubmittersRCV000147494 RCV000224827 RCV000624288 RCV001226584 RCV001847780
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	SNV Germline	Chr2:240775863	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory and autonomic, type 2A Hereditary spastic paraplegia 30 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA212636	rs_672601370	17 SubmittersRCV000149482 RCV000374842 RCV000624110 RCV000850514 RCV001197350 RCV001334240 RCV001847781
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)	SNV Germline	Chr2:240783780	Pathogenic	Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 KIF1A-related disorder Early-infantile developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA212633	rs_672601369	10 SubmittersRCV000149481 RCV000488961 RCV000850486 RCV001813759 RCV005862999 RCV006697865
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)	SNV Germline	Chr2:240785066	Pathogenic	Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia 30	Criteria Provided Multiple Submitters No Conflicts	CA212627	rs_672601367	6 SubmittersRCV000149479 RCV001090762 RCV003998180
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)	SNV Germline	Chr2:240786444	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Spastic paraplegia 30A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA212621	rs_672601365	6 SubmittersRCV000149477 RCV001391597 RCV001268733 RCV001323710 RCV006699213
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)	SNV Germline	Chr2:240789246	Pathogenic	Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Inborn genetic diseases Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory, type 2C Neurodevelopmental delay Condition: not provided Spastic paraplegia 30A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA212612	rs_672601362	10 SubmittersRCV000149474 RCV000987077 RCV001267147 RCV001386834 RCV002273964 RCV002509246 RCV006704572
NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)	SNV Germline	Chr12:57567598	Pathogenic	Hereditary spastic paraplegia 10	No Assertion Criteria Provided	CA174974	rs_690016545	1 SubmittersRCV000149510
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)	SNV Germline	ChrX:74531529	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA234943	rs_199904356	7 SubmittersRCV000153955 RCV000723786 RCV001080009 RCV001847786 RCV002316973
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)	SNV Germline	Chr1:109628692	Conflicting classifications of pathogenicity	Global developmental delay Brain malformation Seizure Hereditary spastic paraplegia 63 Pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia type 9	Criteria Provided Conflicting Classifications	CA249914	rs_192669225	2 SubmittersRCV000162110 RCV002515123 RCV003984820
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)	SNV Germline	Chr7:100105981	Pathogenic	CNS hypomyelination Brain atrophy Microcephaly Hypoplasia of the corpus callosum Global developmental delay Hereditary spastic paraplegia 50 Condition: not provided Spastic paraplegia AP4M1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA249973	rs_730882249	10 SubmittersRCV000162190 RCV000191923 RCV001529845 RCV001849324 RCV003390861
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)	SNV Germline	Chr19:29708290	Conflicting classifications of pathogenicity	Iron accumulation in brain Neurodegeneration Condition: not provided Hereditary spastic paraplegia Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation 4	Criteria Provided Conflicting Classifications	CA186055	rs_200133991	7 SubmittersRCV000162119 RCV000292174 RCV000516097 RCV001231447 RCV003479030 RCV006741235
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser)	SNV Germline	Chr19:7558948	Likely pathogenic	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Hereditary spastic paraplegia 39 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA186150	rs_142422525	4 SubmittersRCV000162353 RCV001242294 RCV001268592 RCV004815256
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)	SNV Germline	Chr19:7556710	Pathogenic	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Condition: not provided Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39	Criteria Provided Multiple Submitters No Conflicts	CA186152	rs_786201037	4 SubmittersRCV000162354 RCV001092940 RCV001559129 RCV002515124
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)	SNV Germline	Chr2:240788208	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia 30	Criteria Provided Multiple Submitters No Conflicts	CA346824	rs_786200949	6 SubmittersRCV000167867 RCV000693147 RCV000762334 RCV001078152
NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser)	SNV Germline	Chr2:197493399	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 13	Criteria Provided Conflicting Classifications	CA334242	rs_149003485	2 SubmittersRCV000168086 RCV001140948
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)	SNV Germline	Chr2:32127014	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Multiple Submitters No Conflicts	CA334274	rs_786204132	2 SubmittersRCV000168104
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)	SNV Germline	Chr2:32136608	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA334245	rs_786204126	13 SubmittersRCV000168087 RCV000579036 RCV001847790
NM_014946.4(SPAST):c.1414-1G>C	SNV Germline	Chr2:32137108	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Multiple Submitters No Conflicts	CA334385	rs_786204163	2 SubmittersRCV000168164
NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu)	SNV Germline	Chr2:32144957	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Single Submitter	CA333996	rs_786204057	1 SubmittersRCV000167918
NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter)	SNV Germline	Chr2:86251959	Pathogenic	Hereditary spastic paraplegia 31	Criteria Provided Single Submitter	CA334086	rs_786204081	1 SubmittersRCV000167976
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)	SNV Germline	Chr14:67754144	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary spastic paraplegia 15 Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA334653	rs_151166497	7 SubmittersRCV000168361 RCV000421762 RCV000660475 RCV001079938 RCV001847797
NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)	SNV Germline	Chr14:67767816	Conflicting classifications of pathogenicity	Condition: not provided not specified Spastic paraplegia Hereditary spastic paraplegia 15 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA334145	rs_34952009	7 SubmittersRCV000168014 RCV000437692 RCV001082302 RCV001118126 RCV001847789
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)	SNV Germline	Chr14:67789467	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia 15 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA334610	rs_116890187	10 SubmittersRCV000435814 RCV000439576 RCV001082969 RCV001115192 RCV001847795
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)	SNV Germline	Chr14:67805304	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 15 Condition: not provided not specified Spastic paraplegia Hereditary spastic paraplegia ZFYVE26-related disorder	Criteria Provided Conflicting Classifications	CA334758	rs_35512910	8 SubmittersRCV000279394 RCV000512998 RCV000517033 RCV001082592 RCV001847798 RCV003927560
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)	SNV Germline	Chr15:44564629	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder not specified	Criteria Provided Conflicting Classifications	CA334634	rs_139334167	11 SubmittersRCV000710226 RCV001083164 RCV001847796 RCV002362862 RCV003917575 RCV005437973
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)	SNV Germline	Chr15:44572802	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA208997	rs_140824939	17 SubmittersRCV000168174 RCV000194672 RCV000512885 RCV001847791 RCV002362861 RCV003917574
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)	SNV Germline	Chr15:44615524	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA235929	rs_786204176	3 SubmittersRCV000168213 RCV000171235
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)	SNV Germline	Chr16:89550502	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Mitochondrial disease Hereditary spastic paraplegia Inborn genetic diseases SPG7-related disorder Hereditary ataxia	Criteria Provided Multiple Submitters No Conflicts	CA334497	rs_369227537	17 SubmittersRCV000168257 RCV000413970 RCV000508922 RCV001847793 RCV002515187 RCV003416049 RCV005625350
NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys)	SNV Germline	Chr19:49692361	Pathogenic	Hereditary spastic paraplegia 73	No Assertion Criteria Provided	CA199135	rs_786204767	1 SubmittersRCV000169633
NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)	SNV Germline	Chr14:50620724	Pathogenic	Condition: not provided Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA235905	rs_786205487	1 SubmittersRCV000171222 RCV003987402
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)	SNV Germline	Chr2:240788191	Conflicting classifications of pathogenicity	Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 KIF1A-related disorder not specified	Criteria Provided Conflicting Classifications	CA236139	rs_778224699	9 SubmittersRCV000171342 RCV000639785 RCV000626085 RCV001391594 RCV004737262 RCV004782279
NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr)	SNV Germline	Chr8:125059395	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 8	Criteria Provided Conflicting Classifications	CA236317	rs_749056160	2 SubmittersRCV000171420 RCV001158802
NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)	SNV Germline	Chr9:35737405	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 46	Criteria Provided Conflicting Classifications	CA236323	rs_752274637	2 SubmittersRCV000171423 RCV003133160
NM_000533.5(PLP1):c.650G>A (p.Gly217Asp)	SNV Germline	ChrX:103788464	Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 2	Criteria Provided Single Submitter	CA236360	rs_786205605	1 SubmittersRCV000171442 RCV003984826
NM_003119.4(SPG7):c.1A>G (p.Met1Val)	SNV Germline	Chr16:89508418	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 7 SPG7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274907	rs_794726906	8 SubmittersRCV000173302 RCV001852108 RCV003416067
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	SNV Germline	Chr13:23339800	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA208864	rs_146451611	15 SubmittersRCV000194599 RCV000515329 RCV000710206 RCV001082339 RCV001847803 RCV003937553
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	SNV Germline	Chr13:23330159	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA239310	rs_34382952	17 SubmittersRCV000254363 RCV000488235 RCV000515968 RCV000674768 RCV001082378
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)	SNV Germline	Chr14:67798195	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 15 Spastic paraplegia	Criteria Provided Conflicting Classifications	CA200844	rs_141880939	7 SubmittersRCV000174133 RCV000710227 RCV001119875 RCV001083591
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)	SNV Germline	Chr11:62690389	Conflicting classifications of pathogenicity	Monogenic diabetes Condition: not provided Charcot-Marie-Tooth disease type 2 Hereditary spastic paraplegia Inborn genetic diseases Congenital generalized lipodystrophy type 2	Criteria Provided Conflicting Classifications	CA239675	rs_149466797	10 SubmittersRCV000445495 RCV000724332 RCV001086117 RCV001847805 RCV002326952 RCV003884374
NM_015915.5(ATL1):c.1200G>A (p.Lys400=)	SNV Germline	Chr14:50628111	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 3A Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA239909	rs_144792471	5 SubmittersRCV000724714 RCV001081632 RCV002345600 RCV006439695
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)	SNV Germline	Chr15:44615364	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis Condition: not provided Hereditary spastic paraplegia Melanoma Hepatocellular carcinoma Malignant tumor of esophagus Nonpapillary renal cell carcinoma Thyroid cancer, nonmedullary, 1 Acute myeloid leukemia Clear cell carcinoma of kidney Gastric cancer Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA201295	rs_111347025	16 SubmittersRCV000175101 RCV000204165 RCV001260215 RCV002262769 RCV001847810 RCV005889809 RCV005889802 RCV005889803 RCV005889804 RCV005889808 RCV005889801 RCV005889805 RCV005889806 RCV005889807
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)	SNV Germline	Chr15:89333723	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided 6 conditions POLG-related disorder Intellectual disability Inborn genetic diseases Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA302812	rs_765472726	17 SubmittersRCV000633544 RCV000724132 RCV000763999 RCV001116627 RCV001252351 RCV002453618 RCV001847811 RCV004526626
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe)	SNV Germline	Chr16:89510540	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA241505	rs_770487062	4 SubmittersRCV000175748 RCV002056943 RCV005492795
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)	SNV Germline	Chr2:240745853	Conflicting classifications of pathogenicity	not specified Condition: not provided History of neurodevelopmental disorder Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA202153	rs_143037290	17 SubmittersRCV000176875 RCV000415745 RCV000715995 RCV000987072 RCV001084426 RCV001847816
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	SNV Germline	Chr15:89330133	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b POLG-related disorder Hereditary spastic paraplegia Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2U Tip-toe gait	Criteria Provided Conflicting Classifications	CA202319	rs_61752784	22 SubmittersRCV000177165 RCV000233823 RCV000415771 RCV000768291 RCV001121511 RCV001847817 RCV002312719 RCV002516726 RCV002227084
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)	SNV Germline	Chr15:89328532	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy 6 conditions Condition: not provided POLG-related disorder Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246660	rs_145289229	15 SubmittersRCV000188651 RCV000475753 RCV000515415 RCV000710181 RCV001119511 RCV001847818 RCV002317054
NM_015915.5(ATL1):c.631-7T>A	SNV Germline	Chr14:50613252	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 3A ATL1-related disorder not specified	Criteria Provided Conflicting Classifications	CA247289	rs_186528086	5 SubmittersRCV000724713 RCV001081633 RCV003947533 RCV006439713
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)	SNV Germline	Chr16:89531999	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia SPG7-related disorder	Criteria Provided Conflicting Classifications	CA247608	rs_114135540	9 SubmittersRCV000195569 RCV000724712 RCV001085115 RCV001847819 RCV003937635
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)	SNV Germline	Chr11:62690840	Conflicting classifications of pathogenicity	Condition: not provided not specified Charcot-Marie-Tooth disease type 2 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248240	rs_144245125	10 SubmittersRCV000657059 RCV001001623 RCV001087807 RCV001847821 RCV002444724
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)	SNV Germline	Chr15:44651677	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA275497	rs_141596008	7 SubmittersRCV000185539 RCV001508762 RCV001847822 RCV002467649 RCV002467650 RCV002372141
NM_001010867.4(IBA57):c.678A>G (p.Gln226=)	SNV Germline	Chr1:228175028	Pathogenic	Hereditary spastic paraplegia 74 Multiple mitochondrial dysfunctions syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA10575730	rs_876657407	4 SubmittersRCV000185609 RCV004767125
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)	SNV Germline	Chr15:89317433	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA316786	rs_765344513	5 SubmittersRCV000188628 RCV000758333 RCV001847833 RCV005431539
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)	SNV Germline	Chr15:89317460	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316784	rs_369544574	10 SubmittersRCV000188627 RCV000633564 RCV000712805 RCV001847832 RCV002453696 RCV006439745
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	SNV Germline	Chr15:89320857	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Spinocerebellar atrophy Hereditary spastic paraplegia not specified Inborn genetic diseases MELAS syndrome Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b 6 conditions Mitochondrial disease POLG-related disorder Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Conflicting Classifications	CA316719	rs_201477273	26 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001847830 RCV002247604 RCV002317145 RCV003232987 RCV003992217 RCV004796080 RCV006249368 RCV005361099 RCV006249604 RCV006439738 RCV006635933 RCV006704610
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	SNV Germline	Chr15:89321780	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy 6 conditions Intellectual disability Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder Autosomal recessive POLG-related disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA316701	rs_144500145	18 SubmittersRCV000188581 RCV000633537 RCV000762953 RCV001252349 RCV001847829 RCV002517007 RCV004526636 RCV006694772 RCV006741239
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)	SNV Germline	Chr15:89325591	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA316846	rs_367610201	6 SubmittersRCV000188667 RCV001348402 RCV001814096 RCV001847837 RCV003226244
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	SNV Germline	Chr15:89327198	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Lennox-Gastaut syndrome 6 conditions Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b POLG-related disorder Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Hereditary spastic paraplegia Inborn genetic diseases not specified Mitochondrial disease Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA316834	rs_145843073	25 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001004603 RCV001027840 RCV001117972 RCV001330959 RCV001847836 RCV002314743 RCV003230444 RCV004786516 RCV004799199
NM_002693.3(POLG):c.830A>T (p.His277Leu)	SNV Germline	Chr15:89330106	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia Tip-toe gait Inborn genetic diseases not specified Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b 6 conditions Sarcoma Lung cancer	Criteria Provided Conflicting Classifications	CA316810	rs_138929605	20 SubmittersRCV000188643 RCV000231645 RCV000616176 RCV001004406 RCV001847834 RCV002226693 RCV002514036 RCV003235111 RCV005008116 RCV005396564 RCV005892195 RCV005892196
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)	SNV Germline	Chr15:89333630	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA316606	rs_74382477	5 SubmittersRCV000545670 RCV000676334 RCV001847824 RCV006439727
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)	SNV Germline	Chr2:240785063	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 PEHO syndrome Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Syndromic intellectual disability Inborn genetic diseases Spastic paraplegia 30A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA204974	rs_797045164	13 SubmittersRCV000191020 RCV000207243 RCV001255726 RCV001269905 RCV001389787 RCV001796966 RCV002514079 RCV006270228
NM_015915.5(ATL1):c.596T>A (p.Leu199Gln)	SNV Germline	Chr14:50595598	Pathogenic	Hereditary spastic paraplegia 3A	No Assertion Criteria Provided	CA275969	rs_797045004	1 SubmittersRCV000190502
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)	SNV Germline	Chr2:240741350	Conflicting classifications of pathogenicity	Inborn genetic diseases not specified Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Intellectual disability Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA204602	rs_374873057	10 SubmittersRCV000190656 RCV000504400 RCV000639825 RCV001252530 RCV001545198 RCV001847846
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)	SNV Germline	Chr2:32127017	Pathogenic	Inborn genetic diseases Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204591	rs_797044850	5 SubmittersRCV000190649 RCV000206286 RCV000478313
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)	SNV Germline	Chr16:74726273	Pathogenic	Inborn genetic diseases Hereditary spastic paraplegia Hereditary spastic paraplegia 35 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204774	rs_765086319	5 SubmittersRCV000190745 RCV001847847 RCV002470808 RCV004998400
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)	SNV Germline	Chr2:240797715	Pathogenic/Likely pathogenic	Spastic paraplegia Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30	Criteria Provided Multiple Submitters No Conflicts	CA250361	rs_797045050	7 SubmittersRCV000191098 RCV000235418 RCV000639795 RCV004786519 RCV004767129
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)	SNV Germline	Chr14:67782971	Pathogenic	Hereditary spastic paraplegia 15 Spastic paraplegia Hereditary spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250411	rs_370828455	7 SubmittersRCV000191149 RCV000633029 RCV001847849 RCV004791315
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)	SNV Germline	Chr17:5022180	Conflicting classifications of pathogenicity	Spastic ataxia 2 Condition: not provided Hereditary spastic paraplegia KIF1C-related disorder not specified	Criteria Provided Conflicting Classifications	CA250364	rs_148934699	10 SubmittersRCV000191099 RCV000415815 RCV001847848 RCV003917729 RCV006439756
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)	SNV Germline	Chr17:5023573	Conflicting classifications of pathogenicity	Spastic ataxia 2 Hereditary spastic paraplegia Condition: not provided KIF1C-related disorder	Criteria Provided Conflicting Classifications	CA250366	rs_202232792	7 SubmittersRCV000191100 RCV000516061 RCV000859538 RCV003917730
NM_000533.5(PLP1):c.1A>G (p.Met1Val)	SNV Germline	ChrX:103776996	Pathogenic	Pelizaeus-Merzbacher disease Hereditary spastic paraplegia 2	Criteria Provided Multiple Submitters No Conflicts	CA276159	rs_797045064	2 SubmittersRCV000191119 RCV001857679
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)	SNV Germline	Chr7:100106278	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 50 Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA346965	rs_146262009	8 SubmittersRCV000191922 RCV001849336 RCV003227707
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)	SNV Germline	Chr1:109628244	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 63 Pontocerebellar hypoplasia type 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA205620	rs_114727970	4 SubmittersRCV000192657 RCV000548443 RCV001725137
NM_001253852.3(AP4B1):c.114-10C>T	SNV Germline	Chr1:113902872	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 47	Criteria Provided Conflicting Classifications	CA209729	rs_200301524	2 SubmittersRCV000195118 RCV002517046
NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=)	SNV Germline	Chr2:240718061	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209750	rs_745898229	3 SubmittersRCV000195127 RCV001406543 RCV002336512
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)	SNV Germline	Chr2:240719177	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207711	rs_143815273	8 SubmittersRCV000193912 RCV000393106 RCV000871380 RCV001721255 RCV001847865 RCV002317696
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)	SNV Germline	Chr2:240719868	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209849	rs_200141437	12 SubmittersRCV000195190 RCV000513801 RCV000538003 RCV000764392 RCV001262253 RCV002517091
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)	SNV Germline	Chr2:240721001	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205958	rs_201825284	6 SubmittersRCV000192849 RCV000766570 RCV001088066 RCV001847864 RCV004020320
NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)	SNV Germline	Chr2:240722483	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA208952	rs_771217469	6 SubmittersRCV000194644 RCV001434490 RCV001847863 RCV002327027 RCV006450056 RCV004737300
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)	SNV Germline	Chr2:240722517	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Condition: not provided Intellectual disability, autosomal dominant 9 History of neurodevelopmental disorder Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA207477	rs_141441058	14 SubmittersRCV000193768 RCV000399209 RCV000430886 RCV000625875 RCV000717282 RCV001084017 RCV001847862 RCV004530127
NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)	SNV Germline	Chr2:240722536	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Condition: not provided Neuropathy, hereditary sensory, type 2C	Criteria Provided Conflicting Classifications	CA206106	rs_572923181	5 SubmittersRCV000192942 RCV001231462 RCV003133168 RCV004786520
NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met)	SNV Germline	Chr2:240740061	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209076	rs_797045652	3 SubmittersRCV000194715 RCV001062486 RCV002317694
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)	SNV Germline	Chr2:240744058	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA206971	rs_201981364	4 SubmittersRCV000193462 RCV000639842 RCV001087528
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)	SNV Germline	Chr2:240745767	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia Inborn genetic diseases KIF1A-related disorder	Criteria Provided Conflicting Classifications	CA205590	rs_370286749	17 SubmittersRCV000192638 RCV000727207 RCV001081600 RCV001136883 RCV001847861 RCV002314827 RCV004530126
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)	SNV Germline	Chr2:240745866	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206964	rs_368682964	12 SubmittersRCV000193457 RCV000280816 RCV000560060 RCV001082394 RCV001847860 RCV002433868
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)	SNV Germline	Chr2:240750448	Conflicting classifications of pathogenicity	not specified Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208542	rs_186881889	12 SubmittersRCV000194398 RCV000639833 RCV001139124 RCV001699152 RCV001847859 RCV002314826
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)	SNV Germline	Chr2:240750508	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206457	rs_140783695	10 SubmittersRCV000193158 RCV000386218 RCV000532199 RCV001532442 RCV001847858 RCV002317693
NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)	SNV Germline	Chr2:240758410	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA209428	rs_370648599	3 SubmittersRCV000194936 RCV000940273 RCV001847857
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)	SNV Germline	Chr2:240758467	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA208640	rs_199996308	9 SubmittersRCV000194459 RCV000339569 RCV000539758 RCV001847856 RCV002317692 RCV003430743
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)	SNV Germline	Chr2:240761362	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Intellectual disability Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 KIF1A-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA206597	rs_774604596	8 SubmittersRCV000193245 RCV000624865 RCV001252529 RCV001838988 RCV001852557 RCV004530125 RCV003133167
NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met)	SNV Germline	Chr2:240763253	Conflicting classifications of pathogenicity	not specified Condition: not provided Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA209684	rs_760338913	6 SubmittersRCV000195093 RCV000766476 RCV000799188 RCV006701231
NM_001244008.2(KIF1A):c.883-3C>T	SNV Germline	Chr2:240775929	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided	Criteria Provided Conflicting Classifications	CA208265	rs_111507743	6 SubmittersRCV000194229 RCV000267842 RCV000542527 RCV000997713
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)	SNV Germline	Chr2:240783059	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206824	rs_187442951	8 SubmittersRCV000193375 RCV000328663 RCV000554087 RCV001556672 RCV001847867 RCV002314828
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)	SNV Germline	Chr2:240783087	Pathogenic/Likely pathogenic	Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA209610	rs_797045655	9 SubmittersRCV000195049 RCV000236782 RCV000818660 RCV001391603 RCV001847866
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)	SNV Germline	Chr2:32154380	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 4 Condition: not provided Spastic paraplegia Spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207191	rs_144594804	11 SubmittersRCV000193599 RCV000509114 RCV000658865 RCV001391562 RCV001640291 RCV001847874
NM_004722.4(AP4M1):c.189C>T (p.Gly63=)	SNV Germline	Chr7:100102716	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 50	Criteria Provided Conflicting Classifications	CA207714	rs_367614875	2 SubmittersRCV000193913 RCV005089971
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)	SNV Germline	Chr7:100102942	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 50 AP4M1-related disorder	Criteria Provided Conflicting Classifications	CA209697	rs_138437966	7 SubmittersRCV000195099 RCV000766902 RCV001087871 RCV003927759
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)	SNV Germline	Chr7:100105984	Pathogenic/Likely pathogenic	not specified Hereditary spastic paraplegia 50 Spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA206534	rs_754498075	7 SubmittersRCV000193207 RCV001040211 RCV001849338 RCV005372257 RCV005647983
NM_004722.4(AP4M1):c.1128C>T (p.Gly376=)	SNV Germline	Chr7:100106505	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 50	Criteria Provided Conflicting Classifications	CA209312	rs_372787797	2 SubmittersRCV000194861 RCV001857686
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)	SNV Germline	Chr7:100106862	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 50 Condition: not provided Hereditary spastic paraplegia AP4M1-related disorder	Criteria Provided Conflicting Classifications	CA206016	rs_147738731	6 SubmittersRCV000192888 RCV000860999 RCV001507706 RCV001847852 RCV003895240
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)	SNV Germline	Chr7:4788844	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 48	Criteria Provided Conflicting Classifications	CA205539	rs_372517211	3 SubmittersRCV000192608 RCV001087595
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)	SNV Germline	Chr11:62691116	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Monogenic diabetes Severe neurodegenerative syndrome with lipodystrophy Inborn genetic diseases Congenital generalized lipodystrophy type 2 Severe neurodegenerative syndrome with lipodystrophy Congenital generalized lipodystrophy type 2 Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5C	Criteria Provided Conflicting Classifications	CA205518	rs_140676897	8 SubmittersRCV000192598 RCV000766869 RCV001083233 RCV001174400 RCV002467651 RCV002433863 RCV003884385 RCV005049470
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	SNV Germline	Chr13:23332894	Conflicting classifications of pathogenicity	not specified Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207002	rs_36061856	11 SubmittersRCV000193480 RCV000230933 RCV000278445 RCV001079338 RCV001847870
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	SNV Germline	Chr13:23335483	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA277355	rs_140551762	19 SubmittersRCV000194652 RCV000230214 RCV000513770 RCV001815246 RCV001847873
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	SNV Germline	Chr13:23340449	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207090	rs_144267558	13 SubmittersRCV000193535 RCV000338267 RCV000470007 RCV001083422 RCV001847871 RCV003907705 RCV004020340
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)	SNV Germline	Chr14:67782955	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 15 Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA206139	rs_35018134	8 SubmittersRCV000192964 RCV000263238 RCV000713435 RCV001085598 RCV001847876
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)	SNV Germline	Chr2:86217050	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 31 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA322595	rs_189652973	8 SubmittersRCV000415754 RCV000986787 RCV003165456 RCV005055711
NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser)	SNV Germline	Chr2:86232673	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 31 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA323435	rs_768890728	2 SubmittersRCV001228818 RCV002345708
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	SNV Germline	Chr6:5613185	Pathogenic/Likely pathogenic	Condition: not provided Combined oxidative phosphorylation defect type 14 Hereditary spastic paraplegia 77 Inborn genetic diseases See cases FARS2-related disorder Hereditary spastic paraplegia 77 Combined oxidative phosphorylation defect type 14	Criteria Provided Multiple Submitters No Conflicts	CA325392	rs_751459058	16 SubmittersRCV000200808 RCV000525331 RCV000578164 RCV000622524 RCV003156085 RCV004751360 RCV005396583
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)	SNV Germline	Chr6:5771328	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 77 Combined oxidative phosphorylation defect type 14	Criteria Provided Multiple Submitters No Conflicts	CA321645	rs_775690041	4 SubmittersRCV000197201 RCV000578139 RCV001378476
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)	SNV Germline	Chr10:100993500	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Autosomal recessive cerebellar ataxia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Infantile onset spinocerebellar ataxia Condition: not provided Hereditary spastic paraplegia TWNK-related disorder	Criteria Provided Conflicting Classifications	CA323951	rs_182559752	7 SubmittersRCV000338208 RCV000374204 RCV000283282 RCV000377740 RCV000871398 RCV001847877 RCV004530167
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)	SNV Germline	Chr16:89508421	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA321845	rs_535030441	10 SubmittersRCV000817246 RCV001722098 RCV001847886 RCV002515437 RCV005237700
NM_003119.4(SPG7):c.199C>T (p.Leu67=)	SNV Germline	Chr16:89510505	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA322268	rs_148315471	8 SubmittersRCV000197807 RCV000860664 RCV001815248 RCV001847883
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)	SNV Germline	Chr16:89510526	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA323300	rs_114854791	6 SubmittersRCV000198775 RCV000765319 RCV001847887 RCV003993885
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn)	SNV Germline	Chr16:89524032	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA322399	rs_767820132	2 SubmittersRCV000197933 RCV001853199
NM_003119.4(SPG7):c.524T>C (p.Leu175Pro)	SNV Germline	Chr16:89524153	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA321922	rs_149797758	2 SubmittersRCV000197458 RCV006685049
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)	SNV Germline	Chr16:89532579	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 not specified	Criteria Provided Conflicting Classifications	CA324322	rs_201543030	6 SubmittersRCV000713479 RCV000804015 RCV003488456
NM_003119.4(SPG7):c.1653C>T (p.Arg551=)	SNV Germline	Chr16:89548103	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 7 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA336170	rs_56031686	9 SubmittersRCV000196125 RCV001088894 RCV001847884 RCV003221854
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)	SNV Germline	Chr16:89550505	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA322772	rs_372981030	5 SubmittersRCV000198266 RCV000697812 RCV001847888
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)	SNV Germline	Chr16:89550557	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA322015	rs_151249432	6 SubmittersRCV000197553 RCV001233181 RCV001847891
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr)	SNV Germline	Chr16:89553108	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 SPG7-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA322713	rs_549735647	5 SubmittersRCV000867765 RCV003955198 RCV004808627
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)	SNV Germline	Chr16:89553132	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia Hereditary spastic paraplegia 7 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA325352	rs_2099104	8 SubmittersRCV000487696 RCV000515879 RCV000640979 RCV004816333
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)	SNV Germline	Chr16:89554486	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 7 SPG7-related disorder	Criteria Provided Conflicting Classifications	CA324687	rs_752257333	3 SubmittersRCV000200130 RCV002515440 RCV003417715
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	SNV Germline	Chr16:89556933	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 7 Spastic ataxia Hereditary spastic paraplegia SPG7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA323349	rs_752623413	23 SubmittersRCV000198819 RCV000500664 RCV001640295 RCV001847889 RCV003401074
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)	SNV Germline	Chr16:89556980	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA325312	rs_140769107	11 SubmittersRCV000227318 RCV000766856 RCV001847890
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter)	SNV Germline	Chr2:32137112	Pathogenic	Hereditary spastic paraplegia 4	Criteria Provided Multiple Submitters No Conflicts	CA337296	rs_757130394	2 SubmittersRCV000197545
NM_015915.5(ATL1):c.300T>G (p.Val100=)	SNV Germline	Chr14:50590958	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 3A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA338991	rs_863224772	3 SubmittersRCV000199958 RCV002433889
NM_015346.4(ZFYVE26):c.7417-5G>C	SNV Germline	Chr14:67748644	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 15 not specified Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA335934	rs_201771769	7 SubmittersRCV000195780 RCV000280192 RCV000614268 RCV001083657 RCV001847894
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)	SNV Germline	Chr14:67762745	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Hereditary spastic paraplegia 15 Condition: not provided Hereditary spastic paraplegia ZFYVE26-related disorder	Criteria Provided Conflicting Classifications	CA338151	rs_139163400	10 SubmittersRCV000198741 RCV000343187 RCV001116681 RCV001705152 RCV001847897 RCV003937753
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)	SNV Germline	Chr14:67778189	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 15 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA338345	rs_200243306	8 SubmittersRCV000199016 RCV001116781 RCV001531198 RCV001847893
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)	SNV Germline	Chr14:67782828	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 15 Hereditary spastic paraplegia Condition: not provided ZFYVE26-related disorder	Criteria Provided Conflicting Classifications	CA337036	rs_534497092	5 SubmittersRCV000197212 RCV000298542 RCV001847896 RCV003401078 RCV003917810
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)	SNV Germline	Chr15:44564566	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Intellectual disability Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA337736	rs_150571352	9 SubmittersRCV000198221 RCV000609376 RCV001252105 RCV001331387 RCV001847903 RCV002363018 RCV004696869 RCV005008134
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter)	SNV Germline	Chr15:44564583	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA336254	rs_762984907	2 SubmittersRCV000196229 RCV004791320
NM_025137.4(SPG11):c.3146-6T>G	SNV Germline	Chr15:44610991	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA336234	rs_777849932	3 SubmittersRCV000196201 RCV003137783
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)	SNV Germline	Chr15:44615514	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA339114	rs_150689014	9 SubmittersRCV000200120 RCV000516986 RCV001847899 RCV002433886 RCV003884398
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)	SNV Germline	Chr15:44663632	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder not specified	Criteria Provided Conflicting Classifications	CA337596	rs_200573434	11 SubmittersRCV000713414 RCV001086819 RCV001260214 RCV001336692 RCV001847902 RCV002399751 RCV003917821 RCV006439776
NM_016630.7(SPG21):c.846G>A (p.Ala282=)	SNV Germline	Chr15:64963701	Conflicting classifications of pathogenicity	Mast syndrome not specified Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA338450	rs_146986015	6 SubmittersRCV000199178 RCV000518621 RCV001847898 RCV003389761
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)	SNV Germline	Chr16:89544731	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7	Criteria Provided Multiple Submitters No Conflicts	CA336544	rs_748555510	3 SubmittersRCV000196592
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)	SNV Germline	Chr16:89553853	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339302	rs_752989523	4 SubmittersRCV000200425 RCV001562435
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)	SNV Germline	Chr2:197487161	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 13 Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA279046	rs_863224878	3 SubmittersRCV000200544 RCV002225501 RCV002517300
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	SNV Germline	Chr2:32144945	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 4 Condition: not provided not specified Inborn genetic diseases Spastic diplegia	Criteria Provided Conflicting Classifications	CA277520	rs_142053576	13 SubmittersRCV000199081 RCV000486146 RCV001193265 RCV004020479 RCV005638105
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)	SNV Germline	Chr2:32145005	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia SPAST-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278930	rs_863224923	11 SubmittersRCV000195806 RCV001091364 RCV001847904 RCV003401083
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)	SNV Germline	Chr13:23332252	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA351289	rs_863224916	5 SubmittersRCV001848018 RCV001843500 RCV002305471 RCV005238774
NM_024306.5(FA2H):c.517C>T (p.Pro173Ser)	SNV Germline	Chr16:74726321	Likely pathogenic	Hereditary spastic paraplegia 35	Criteria Provided Single Submitter	CA279015	rs_863224870	1 SubmittersRCV000199368
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)	SNV Germline	Chr16:89550559	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7	Criteria Provided Multiple Submitters No Conflicts	CA277518	rs_72547552	3 SubmittersRCV000198892
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)	SNV Germline	Chr10:95633040	Likely pathogenic	Hereditary spastic paraplegia 9A P5CS deficiency	Criteria Provided Single Submitter	CA347465	rs_864321669	2 SubmittersRCV000200956 RCV003389243
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	SNV Germline	Chr10:95633012	Pathogenic	Hereditary spastic paraplegia 9A Condition: not provided ALDH18A1 deficiency de Barsy syndrome Cutis laxa, autosomal dominant 3 Autosomal dominant spastic paraplegia type 9 P5CS deficiency	Criteria Provided Multiple Submitters No Conflicts	CA347466	rs_864321670	8 SubmittersRCV000200959 RCV000761744 RCV001095737 RCV003765292 RCV006645459
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)	SNV Germline	Chr10:95637381	Pathogenic	Hereditary spastic paraplegia 9A Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome	Criteria Provided Single Submitter	CA279055	rs_863224945	2 SubmittersRCV000200954 RCV003765293
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)	SNV Germline	Chr10:95611372	Pathogenic	Hereditary spastic paraplegia 9A	No Assertion Criteria Provided	CA280923	rs_766264810	1 SubmittersRCV000200958
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)	SNV Germline	Chr10:95637328	Pathogenic	Cutis laxa, autosomal dominant 3 Condition: not provided Cutis laxa, autosomal dominant 3 Hereditary spastic paraplegia 9A ALDH18A1-related de Barsy syndrome Autosomal recessive complex spastic paraplegia type 9B	Criteria Provided Multiple Submitters No Conflicts	CA279130	rs_863225044	6 SubmittersRCV000201215 RCV000481980 RCV003883142
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)	SNV Germline	Chr10:95637327	Pathogenic	Cutis laxa, autosomal dominant 3 Condition: not provided Autosomal dominant spastic paraplegia type 9 Cutis laxa, autosomal dominant 3 de Barsy syndrome ALDH18A1-related disorder Hereditary spastic paraplegia 9A	Criteria Provided Multiple Submitters No Conflicts	CA279126	rs_863225045	5 SubmittersRCV000201213 RCV003236787 RCV003765295 RCV004530202 RCV004798805
NM_003119.4(SPG7):c.988-1G>A	SNV Germline	Chr16:89531903	Pathogenic	Hereditary spastic paraplegia 7 Hereditary spastic paraplegia SPG7-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339773	rs_748309520	8 SubmittersRCV000206709 RCV001847907 RCV003897433 RCV005230073
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)	SNV Germline	Chr16:89550545	Pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA8244370	rs_72547551	15 SubmittersRCV000235251 RCV000413737 RCV001847906 RCV005278535
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)	SNV Germline	Chr16:89553853	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10575796	rs_752989523	2 SubmittersRCV000236261 RCV001847908
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)	SNV Germline	Chr16:89556954	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10575797	rs_879253797	5 SubmittersRCV000236780 RCV001847905
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)	SNV Germline	Chr15:44659154	Pathogenic	Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA279893	rs_863225440	2 SubmittersRCV000202379 RCV000989303
NM_002361.4(MAG):c.399C>G (p.Ser133Arg)	SNV Germline	Chr19:35295965	Pathogenic	Hereditary spastic paraplegia 75	No Assertion Criteria Provided	CA211166	rs_2301600	1 SubmittersRCV000202409
NM_001244008.2(KIF1A):c.2908C>T (p.Arg970Cys)	SNV Germline	Chr2:240750498	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA249179	rs_864309570	4 SubmittersRCV000202975 RCV001236114 RCV002433897 RCV003324729
NM_004722.4(AP4M1):c.930G>A (p.Arg310=)	SNV Germline	Chr7:100105959	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 50 Hereditary spastic paraplegia Condition: not provided AP4M1-related disorder	Criteria Provided Conflicting Classifications	CA249229	rs_141754568	6 SubmittersRCV000203025 RCV000559361 RCV001847910 RCV002292486 RCV003927869
NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)	SNV Germline	Chr8:125073296	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA248939	rs_150430170	5 SubmittersRCV000202751 RCV001439371 RCV002517353 RCV006277747
NM_014846.4(WASHC5):c.639G>C (p.Gln213His)	SNV Germline	Chr8:125078810	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 8 Hereditary spastic paraplegia 8 Ritscher-Schinzel syndrome Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA249149	rs_141234822	8 SubmittersRCV000202950 RCV000767086 RCV001163829 RCV001490442 RCV001847913
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)	SNV Germline	Chr2:32141917	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA348315	rs_864622162	8 SubmittersRCV000204046 RCV000585136 RCV001847923
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)	SNV Germline	Chr2:32144996	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA349419	rs_864622179	8 SubmittersRCV000205236 RCV000432874 RCV001847924
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)	SNV Germline	Chr8:64616207	Pathogenic	Spastic paraplegia Inborn genetic diseases Condition: not provided Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia 5A Hereditary spastic paraplegia 5A	Criteria Provided Multiple Submitters No Conflicts	CA350581	rs_200737038	10 SubmittersRCV000206556 RCV000210595 RCV000729706 RCV001312060 RCV001847930 RCV005042442 RCV006249610
NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)	SNV Germline	Chr8:64624458	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 5A Condition: not provided	Criteria Provided Conflicting Classifications	CA350038	rs_377119798	3 SubmittersRCV000205949 RCV000379462 RCV006435013
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)	SNV Germline	Chr8:64798529	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Hereditary spastic paraplegia 5A CYP7B1-related disorder Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia 5A	Criteria Provided Conflicting Classifications	CA349540	rs_537303950	7 SubmittersRCV000205382 RCV000512932 RCV001163749 RCV003955222 RCV005049479
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)	SNV Germline	Chr11:62694610	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 5A Congenital generalized lipodystrophy type 2 not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA349870	rs_369806785	6 SubmittersRCV000276983 RCV000329673 RCV000427504 RCV000727441 RCV001087921 RCV002372202 RCV001847934
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)	SNV Germline	Chr14:50614406	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA350143	rs_864622520	10 SubmittersRCV000206078 RCV000235294 RCV001847933
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)	SNV Germline	Chr14:50628104	Likely pathogenic	Hereditary spastic paraplegia 3A	Criteria Provided Single Submitter	CA348222	rs_864622083	2 SubmittersRCV000203941
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)	SNV Germline	Chr14:50628394	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 3A Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA348023	rs_864622269	13 SubmittersRCV000203724 RCV000390284 RCV000624103 RCV001847927
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)	SNV Germline	Chr15:44563256	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Hereditary spastic paraplegia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA349992	rs_61732733	10 SubmittersRCV000205885 RCV000434779 RCV001847932 RCV002292488 RCV002372199
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)	SNV Germline	Chr15:44633542	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Amyotrophic lateral sclerosis Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA350373	rs_79708848	14 SubmittersRCV000206327 RCV000444113 RCV001260213 RCV001847925 RCV006263754
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)	SNV Germline	Chr16:89526366	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA349347	rs_114255772	3 SubmittersRCV000205153
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)	SNV Germline	Chr16:89553103	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided SPG7-related disorder	Criteria Provided Conflicting Classifications	CA350356	rs_864622507	8 SubmittersRCV000206309 RCV000993072 RCV003897449
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)	SNV Germline	Chr16:89553805	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Leukoencephalopathy with vanishing white matter 1	Criteria Provided Conflicting Classifications	CA349575	rs_769602042	10 SubmittersRCV000205405 RCV000585273 RCV005861079
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)	SNV Germline	Chr16:89553941	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349321	rs_864622094	7 SubmittersRCV000205117 RCV000413637
NM_000533.5(PLP1):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:103776997	Pathogenic	Hereditary spastic paraplegia 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA348083	rs_864622194	2 SubmittersRCV000203805 RCV002517370
NM_001371279.1(REEP1):c.595+1G>A	SNV Germline	Chr2:86232624	Pathogenic	Hereditary spastic paraplegia 31	No Assertion Criteria Provided	CA354093	rs_869312880	1 SubmittersRCV000210477
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)	SNV Germline	Chr14:67752520	Pathogenic	Inborn genetic diseases Hereditary spastic paraplegia 15 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA358160	rs_869312914	3 SubmittersRCV000210660 RCV000670105 RCV003765356
NM_004820.5(CYP7B1):c.259+2T>C	SNV Germline	Chr8:64624401	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 5A Spastic paraplegia Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia 5A	Criteria Provided Multiple Submitters No Conflicts	CA4764264	rs_751713917	5 SubmittersRCV000490267 RCV002517441 RCV005042455
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)	SNV Germline	Chr19:29702923	Pathogenic/Likely pathogenic	Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia 43	Criteria Provided Multiple Submitters No Conflicts	CA9351912	rs_201987973	4 SubmittersRCV000211114 RCV006462099
NM_014946.4(SPAST):c.1245+1G>A	SNV Germline/somatic	Chr2:32128480	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Inborn genetic diseases SPAST-related spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10576248	rs_875989878	18 SubmittersRCV000211536 RCV000993061 RCV001267594 RCV001796968 RCV001847944
NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter)	SNV Germline	Chr10:100154922	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 62 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA10576345	rs_876657413	3 SubmittersRCV000211709 RCV005625453
NM_006459.4(ERLIN1):c.149G>T (p.Gly50Val)	SNV Germline	Chr10:100183802	Pathogenic	Hereditary spastic paraplegia 62	No Assertion Criteria Provided	CA10576346	rs_876661322	1 SubmittersRCV000211706
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)	SNV Germline	Chr2:240744032	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory and autonomic, type 2A Hereditary spastic paraplegia not specified Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Spastic paraplegia 30B, autosomal recessive Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2207781	rs_35698242	15 SubmittersRCV000213625 RCV000540329 RCV000764395 RCV001847946 RCV002247667 RCV004786611 RCV005025370 RCV006276138
NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val)	SNV Germline	Chr2:240763259	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2208262	rs_765812659	4 SubmittersRCV000219370 RCV000352933 RCV000509269 RCV000639800
NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser)	SNV Germline	Chr2:240783093	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Multiple Submitters No Conflicts	CA10577247	rs_876661283	2 SubmittersRCV000213797 RCV001854764
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr)	SNV Germline	Chr2:240783058	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2208637	rs_756136593	4 SubmittersRCV000213561 RCV000699622 RCV001329212 RCV002444868
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)	SNV Germline	Chr9:92729208	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary spastic paraplegia Neuronopathy, distal hereditary motor, autosomal dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Inborn genetic diseases BICD2-related disorder	Criteria Provided Conflicting Classifications	CA5126852	rs_61754130	11 SubmittersRCV000224292 RCV000431161 RCV000516078 RCV000789077 RCV001081222 RCV002429084 RCV003937870
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)	SNV Germline	Chr15:44566301	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA7534007	rs_141818132	13 SubmittersRCV000224214 RCV001085256 RCV001260212 RCV001847948 RCV002365166 RCV003919902 RCV006555712
NM_001368809.2(AMPD2):c.1081-8C>A	SNV Germline	Chr1:109628075	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 63 Pontocerebellar hypoplasia type 9 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA993026	rs_145268448	3 SubmittersRCV000224507 RCV001399673 RCV005895102
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)	SNV Germline	Chr13:23339758	Conflicting classifications of pathogenicity	Condition: not provided not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911430	rs_61548169	7 SubmittersRCV000224523 RCV000290021 RCV001112284 RCV001084237 RCV001847949
NM_000533.5(PLP1):c.388C>T (p.His130Tyr)	SNV Germline	ChrX:103786661	Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 2	Criteria Provided Multiple Submitters No Conflicts	CA10581371	rs_878853076	2 SubmittersRCV000223963 RCV001854777
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	SNV Germline	Chr13:23331227	Conflicting classifications of pathogenicity	Condition: not provided not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910119	rs_35799469	10 SubmittersRCV000224626 RCV000251185 RCV000322346 RCV001079358 RCV001847950
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)	SNV Germline	Chr1:228158705	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA1430934	rs_760502262	5 SubmittersRCV000224481 RCV001086089 RCV001847952 RCV006439815
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)	SNV Germline	Chr15:44565954	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2X Condition: not provided Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA10581479	rs_371334506	5 SubmittersRCV000224979 RCV000498920 RCV000706352
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)	SNV Germline	Chr15:44633619	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Autosomal recessive SPG11-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA7535486	rs_765061840	7 SubmittersRCV000224985 RCV000757917 RCV001565198 RCV005008177 RCV006694780
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)	SNV Germline	Chr1:228158951	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia GJC2-related disorder not specified	Criteria Provided Conflicting Classifications	CA1430959	rs_140942230	9 SubmittersRCV000436644 RCV001084409 RCV001848000 RCV003939882 RCV004800355
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)	SNV Germline	Chr2:201741784	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Condition: not provided Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA2058242	rs_3219160	10 SubmittersRCV000294407 RCV000388670 RCV000756988 RCV001082502 RCV001848004 RCV006456878
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	SNV Germline	Chr2:201757758	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis Juvenile primary lateral sclerosis Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058513	rs_190369242	8 SubmittersRCV000512695 RCV000516346 RCV000764355 RCV001082210 RCV001139424 RCV001137184 RCV001848003
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)	SNV Germline	Chr2:32136933	Pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10581968	rs_878854990	16 SubmittersRCV000234461 RCV000713464 RCV001847989
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	SNV Germline	Chr2:32141906	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided Inborn genetic diseases Abnormal central motor function SPAST-related disorder Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10581969	rs_878854991	29 SubmittersRCV000230990 RCV000713467 RCV000623007 RCV001814125 RCV003422150 RCV001847990
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)	SNV Germline	Chr2:32144995	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10581970	rs_878854992	2 SubmittersRCV000228683 RCV002472978
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)	SNV Germline	Chr7:4783430	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 48 Hereditary spastic paraplegia AP5Z1-related disorder Colon adenocarcinoma Thymoma Ovarian serous cystadenocarcinoma Thyroid cancer, nonmedullary, 1 Melanoma Hepatocellular carcinoma Malignant tumor of esophagus Lung cancer Clear cell carcinoma of kidney Malignant lymphoma, large B-cell, diffuse	Criteria Provided Conflicting Classifications	CA4137222	rs_191971593	10 SubmittersRCV000233083 RCV001079083 RCV001847987 RCV003929988 RCV005895334 RCV005895340 RCV005895339 RCV005895341 RCV005895342 RCV005895335 RCV005895336 RCV005895343 RCV005895337 RCV005895338
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)	SNV Germline	Chr7:4784966	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 48 not specified Hereditary spastic paraplegia Condition: not provided AP5Z1-related disorder	Criteria Provided Conflicting Classifications	CA4137421	rs_572271008	6 SubmittersRCV000226846 RCV001288787 RCV001847988 RCV003430791 RCV003967657
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val)	SNV Germline	Chr7:4785555	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 48 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4137559	rs_199930373	3 SubmittersRCV000227335 RCV000991537 RCV005672348
NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg)	SNV Germline	Chr7:4786384	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 48 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4137705	rs_376329631	4 SubmittersRCV000228923 RCV001847981 RCV002518353 RCV004791359
NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr)	SNV Germline	Chr7:4788284	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 48 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4137882	rs_535174478	3 SubmittersRCV000232141 RCV001847984 RCV003258712
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)	SNV Germline	Chr7:4791361	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 48 Hereditary spastic paraplegia AP5Z1-related disorder	Criteria Provided Conflicting Classifications	CA4138468	rs_368571200	6 SubmittersRCV000226378 RCV001088873 RCV001847985 RCV003907888
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)	SNV Germline	Chr9:35739658	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 46 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5050370	rs_142883889	5 SubmittersRCV000229631 RCV001331163 RCV001311779 RCV001848008
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)	SNV Germline	Chr9:35740296	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA5050485	rs_142607078	8 SubmittersRCV000231814 RCV001084099 RCV001848007 RCV006439840
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)	SNV Germline	Chr12:57569671	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 10 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases KIF5A-related disorder not specified	Criteria Provided Conflicting Classifications	CA6652748	rs_140929639	13 SubmittersRCV000229098 RCV000362839 RCV001697585 RCV001847957 RCV002516323 RCV004547607 RCV006436706
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)	SNV Germline	Chr12:57581917	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6653261	rs_113247976	12 SubmittersRCV000424199 RCV000625002 RCV000713410 RCV001081669 RCV001260204 RCV001847959
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	SNV Germline	Chr13:23331279	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910129	rs_112630127	8 SubmittersRCV000228765 RCV000379249 RCV000516975 RCV001560895 RCV001847972
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	SNV Germline	Chr13:23332188	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910240	rs_116791509	8 SubmittersRCV000233808 RCV000293354 RCV000518611 RCV001563142 RCV001847971
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	SNV Germline	Chr13:23333055	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910385	rs_113595574	8 SubmittersRCV000226968 RCV000516532 RCV001113446 RCV001689760 RCV001847970
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	SNV Germline	Chr13:23335537	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia not specified SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910780	rs_111540787	13 SubmittersRCV000341299 RCV000676358 RCV001083821 RCV001847977 RCV002222460 RCV003929987
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	SNV Germline	Chr13:23337095	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder not specified	Criteria Provided Conflicting Classifications	CA6911032	rs_146722795	13 SubmittersRCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986 RCV006439834
NM_014363.6(SACS):c.2988A>G (p.Leu996=)	SNV Germline	Chr13:23340888	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911582	rs_111846884	11 SubmittersRCV000386665 RCV000761852 RCV001086002 RCV001109613 RCV001847974
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys)	SNV Germline	Chr14:102434288	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 49 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7357740	rs_751957510	5 SubmittersRCV000225996 RCV001847978 RCV002518351 RCV003401181
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)	SNV Germline	Chr14:67748523	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 15 Condition: not provided Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA7238918	rs_147494935	7 SubmittersRCV000228666 RCV000379338 RCV001722259 RCV001847998 RCV004999159
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	SNV Germline	Chr15:44563197	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided not specified Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7533839	rs_76116949	15 SubmittersRCV000231950 RCV000514388 RCV000602319 RCV001260218 RCV001848014
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)	SNV Germline	Chr15:44567546	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7534056	rs_144165094	7 SubmittersRCV000232056 RCV001082129 RCV002374379 RCV003939889
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)	SNV Germline	Chr15:44596919	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Inborn genetic diseases Condition: not provided SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7534777	rs_139887370	9 SubmittersRCV000227706 RCV001658071 RCV002356309 RCV003221880 RCV003977687
NM_025137.4(SPG11):c.1602+10T>G	SNV Germline	Chr15:44648856	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X not specified Gastric cancer	Criteria Provided Conflicting Classifications	CA7535513	rs_201535432	5 SubmittersRCV000230118 RCV002261019 RCV002467686 RCV002467687 RCV005238771 RCV005895383
NM_025137.4(SPG11):c.1008-4C>T	SNV Germline	Chr15:44651943	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11	Criteria Provided Conflicting Classifications	CA7535634	rs_369112409	2 SubmittersRCV000229637
NM_025137.4(SPG11):c.60G>C (p.Ala20=)	SNV Germline	Chr15:44663588	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7535962	rs_544136842	3 SubmittersRCV000228154 RCV002356310
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)	SNV Germline	Chr15:50968263	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Hereditary spastic paraplegia 51	Criteria Provided Conflicting Classifications	CA7559184	rs_142215198	6 SubmittersRCV000232082 RCV002293430 RCV003987469
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)	SNV Germline	Chr16:74719083	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA10583427	rs_878855081	4 SubmittersRCV000229293 RCV000522066 RCV001848012 RCV003230464
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)	SNV Germline	Chr16:74719125	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia 35 not specified Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA8170441	rs_775750642	5 SubmittersRCV000226521 RCV001391536 RCV001731541 RCV001848011 RCV003480565
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)	SNV Germline	Chr16:74740048	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia 35 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8170581	rs_147632811	8 SubmittersRCV000514460 RCV001084384 RCV001115913 RCV001848010
NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)	SNV Germline	Chr19:7535950	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 not specified Condition: not provided PNPLA6-related disorder	Criteria Provided Conflicting Classifications	CA9139347	rs_200310048	6 SubmittersRCV000226456 RCV001699245 RCV001727651 RCV004532942
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)	SNV Germline	Chr19:7542855	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 39 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA9139820	rs_145191932	12 SubmittersRCV000280617 RCV000515015 RCV001084647 RCV001847963
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=)	SNV Germline	Chr19:7557262	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 Condition: not provided	Criteria Provided Conflicting Classifications	CA9140438	rs_375987938	3 SubmittersRCV001132626 RCV003884424
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)	SNV Germline	Chr19:7558902	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA9140492	rs_367675784	4 SubmittersRCV000234403 RCV001658064 RCV006263790
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)	SNV Germline	Chr19:7558947	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 39 not specified Condition: not provided Hereditary spastic paraplegia PNPLA6-related disorder	Criteria Provided Conflicting Classifications	CA9140500	rs_138837774	10 SubmittersRCV000228258 RCV000605874 RCV001531879 RCV001847966 RCV004532941
NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr)	SNV Germline	Chr2:240719053	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10584187	rs_879253903	3 SubmittersRCV000236433 RCV000691779 RCV002338768
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)	SNV Germline	Chr2:240719089	Conflicting classifications of pathogenicity	Condition: not provided History of neurodevelopmental disorder Neuropathy, hereditary sensory and autonomic, type 2A Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207170	rs_199574770	5 SubmittersRCV000236636 RCV000719157 RCV000764388 RCV001068459
NM_001244008.2(KIF1A):c.5102G>A (p.Arg1701Gln)	SNV Germline	Chr2:240719118	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207175	rs_780828140	2 SubmittersRCV000236246 RCV001302199
NM_001244008.2(KIF1A):c.4708C>T (p.His1570Tyr)	SNV Germline	Chr2:240721842	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 not specified	Criteria Provided Conflicting Classifications	CA2207344	rs_528171871	3 SubmittersRCV000236455 RCV000639783 RCV005431571
NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)	SNV Germline	Chr2:240722610	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Intellectual disability, autosomal dominant 9 not specified Hereditary spastic paraplegia Inborn genetic diseases Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207398	rs_371831198	9 SubmittersRCV000236175 RCV000528862 RCV000853578 RCV001820787 RCV001848022 RCV002338772 RCV002487099
NM_001244008.2(KIF1A):c.4297G>A (p.Val1433Met)	SNV Germline	Chr2:240723996	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10584188	rs_879253922	3 SubmittersRCV000235597 RCV001069303 RCV002327155
NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg)	SNV Germline	Chr2:240737091	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability, autosomal dominant 9 Inborn genetic diseases Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Spastic paraplegia 30A, autosomal dominant Spastic paraplegia 30B, autosomal recessive	Criteria Provided Conflicting Classifications	CA10584189	rs_879253904	5 SubmittersRCV000236053 RCV001334233 RCV002321899 RCV003765469 RCV006708935
NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg)	SNV Germline	Chr2:240741344	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA2207703	rs_377389267	3 SubmittersRCV000237088 RCV000706485
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)	SNV Germline	Chr2:240746156	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Condition: not provided Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Neuropathy, hereditary sensory, type 2C Intellectual disability Hereditary spastic paraplegia not specified KIF1A-related disorder Inborn genetic diseases Hereditary ataxia	Criteria Provided Conflicting Classifications	CA2207905	rs_183359489	13 SubmittersRCV000338157 RCV000423040 RCV001084584 RCV001252531 RCV001848020 RCV001820786 RCV004532977 RCV004020917 RCV005625475
NM_001244008.2(KIF1A):c.1836G>A (p.Glu612=)	SNV Germline	Chr2:240763279	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA10584192	rs_879254322	2 SubmittersRCV000235415 RCV001394706
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)	SNV Germline	Chr2:240766936	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 History of neurodevelopmental disorder Condition: not provided Hereditary spastic paraplegia 30 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2208322	rs_375972461	6 SubmittersRCV000236475 RCV000529826 RCV000716737 RCV000767159 RCV001143565 RCV002518454
NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys)	SNV Germline	Chr2:240773254	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 KIF1A related neurological disorder Intellectual disability, autosomal dominant 9	Criteria Provided Conflicting Classifications	CA10584195	rs_879254004	5 SubmittersRCV000236924 RCV001334229 RCV003765473 RCV006249618 RCV005411386
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)	SNV Germline	Chr2:240783777	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Neuropathy, hereditary sensory and autonomic, type 2A Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 KIF1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10584198	rs_879253888	14 SubmittersRCV000236491 RCV000623278 RCV000763486 RCV000995795 RCV001857794 RCV004737388
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)	SNV Germline	Chr2:240797712	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA10584200	rs_879253976	3 SubmittersRCV000236138 RCV001257592 RCV001848021
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)	SNV Germline	Chr2:86232691	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 31 Inborn genetic diseases REEP1-related disorder Familial prostate cancer not specified	Criteria Provided Conflicting Classifications	CA1748693	rs_144874997	7 SubmittersRCV000236570 RCV001086893 RCV002347923 RCV003939905 RCV005890963 RCV006688689
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)	SNV Germline	Chr3:100748388	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 57 Hereditary motor and sensory neuropathy, Okinawa type Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2517248	rs_111356679	7 SubmittersRCV000235479 RCV000533138 RCV001081716 RCV002411066
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)	SNV Germline	Chr11:62705406	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Severe neurodegenerative syndrome with lipodystrophy Congenital generalized lipodystrophy type 2 Hereditary spastic paraplegia 17 Neuronopathy, distal hereditary motor, type 5C Inborn genetic diseases BSCL2-related disorder	Criteria Provided Conflicting Classifications	CA6053624	rs_147314661	5 SubmittersRCV000235352 RCV000543721 RCV002479947 RCV002418047 RCV003930012
NM_001253852.3(AP4B1):c.114-2A>C	SNV Germline	Chr1:113902864	Pathogenic	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia 47	Criteria Provided Multiple Submitters No Conflicts	CA10585950	rs_879255396	5 SubmittersRCV000239291 RCV001849350 RCV001854921
NM_025137.4(SPG11):c.2316+5G>A	SNV Germline	Chr15:44622723	Likely pathogenic	Hereditary spastic paraplegia 11	Criteria Provided Single Submitter	CA270074844	rs_879255274	1 SubmittersRCV002518741
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr)	SNV Germline	Chr6:5368994	Pathogenic	Hereditary spastic paraplegia 77	Criteria Provided Single Submitter	CA10586223	rs_145555213	3 SubmittersRCV000239526
NM_020919.4(ALS2):c.1816-8C>T	SNV Germline	Chr2:201746756	Conflicting classifications of pathogenicity	not specified ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Condition: not provided Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058339	rs_185911369	11 SubmittersRCV000251509 RCV000400905 RCV000349374 RCV000710520 RCV001087893 RCV001848038
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)	SNV Germline	Chr9:132328253	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297423	rs_142020270	12 SubmittersRCV000252372 RCV001085624 RCV001311796 RCV001848032 RCV002321932
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)	SNV Germline	Chr9:132328623	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spastic paraplegia Condition: not provided Hereditary spastic paraplegia Colon adenocarcinoma Lymphoma Nonpapillary renal cell carcinoma Thyroid cancer, nonmedullary, 1 Melanoma Acute myeloid leukemia Malignant tumor of esophagus Familial pancreatic carcinoma Malignant lymphoma, large B-cell, diffuse Colorectal cancer Cervical cancer	Criteria Provided Conflicting Classifications	CA5297507	rs_61742937	16 SubmittersRCV000250229 RCV000387370 RCV000541126 RCV001168778 RCV001391479 RCV001706351 RCV001848031 RCV005893967 RCV005893975 RCV005893970 RCV005893976 RCV005893977 RCV005893968 RCV005893969 RCV005893972 RCV005893973 RCV005893974 RCV005893971
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	SNV Germline	Chr13:23336348	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia SACS-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA6910891	rs_111920492	16 SubmittersRCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946 RCV005625487
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)	SNV Germline	Chr2:32089527	Pathogenic	Condition: not provided Hereditary spastic paraplegia 4	Criteria Provided Multiple Submitters No Conflicts	CA10588341	rs_886039695	3 SubmittersRCV000255494 RCV001038756
NM_000533.5(PLP1):c.191+1G>A	SNV Germline	ChrX:103785769	Pathogenic	Condition: not provided Hereditary spastic paraplegia 2	Criteria Provided Multiple Submitters No Conflicts	CA10588734	rs_886039537	2 SubmittersRCV000255963 RCV002288949
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)	SNV Germline	Chr2:240783776	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Spastic paraplegia 30A, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA10602852	rs_886041692	12 SubmittersRCV000326247 RCV000803981 RCV001078149 RCV001808727 RCV006699249
NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly)	SNV Germline	Chr2:32136886	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 4	Criteria Provided Conflicting Classifications	CA10602853	rs_886041597	2 SubmittersRCV000360918 RCV003522953
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)	SNV Germline	Chr7:100106841	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 50 Spastic paraplegia	Criteria Provided Conflicting Classifications	CA10602949	rs_886041126	8 SubmittersRCV000361900 RCV001233636 RCV001849355
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)	SNV Germline	Chr10:100993505	Conflicting classifications of pathogenicity	Infantile onset spinocerebellar ataxia Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5653396	rs_369223258	7 SubmittersRCV001336025 RCV001722382 RCV001848044 RCV004021053
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)	SNV Germline	Chr10:100988451	Conflicting classifications of pathogenicity	Condition: not provided Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Infantile onset spinocerebellar ataxia Autosomal recessive cerebellar ataxia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Hereditary spastic paraplegia Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA5653043	rs_145068570	8 SubmittersRCV000320273 RCV001107964 RCV001107963 RCV001107965 RCV001102728 RCV001848043 RCV005895462
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	SNV Germline	Chr13:23353788	Pathogenic/Likely pathogenic	Condition: not provided Abnormal brain morphology Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6911751	rs_752059006	15 SubmittersRCV000393719 RCV000454220 RCV000984212 RCV001859535 RCV001848046
NM_015915.5(ATL1):c.478T>C (p.Ser160Pro)	SNV Germline	Chr14:50591595	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 3A	Criteria Provided Conflicting Classifications	CA10603244	rs_886041897	2 SubmittersRCV000316265 RCV000705284
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)	SNV Germline	Chr16:89526389	Pathogenic	Condition: not provided Hereditary spastic paraplegia 7 Inborn genetic diseases Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA8243735	rs_764791523	7 SubmittersRCV000276524 RCV001391423 RCV002519056 RCV004786648
NM_021830.5(TWNK):c.384C>T (p.Ser128=)	SNV Germline	Chr10:100988594	Conflicting classifications of pathogenicity	Infantile onset spinocerebellar ataxia Condition: not provided Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Autosomal recessive cerebellar ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5653057	rs_148234280	6 SubmittersRCV000294722 RCV000336672 RCV000347919 RCV000351895 RCV000386725 RCV001848047
NM_025137.4(SPG11):c.4744-6T>C	SNV Germline	Chr15:44589420	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7534588	rs_147550048	13 SubmittersRCV000513183 RCV001086542 RCV001848049 RCV002338823 RCV006268707
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	SNV Germline	Chr13:23355239	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia not specified SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911923	rs_61729954	16 SubmittersRCV000516147 RCV000603816 RCV000676372 RCV001082461 RCV001844110 RCV003930065
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)	SNV Germline	Chr2:240719052	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 30 Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases Intellectual disability, autosomal dominant 9 not specified	Criteria Provided Conflicting Classifications	CA2207161	rs_199804623	14 SubmittersRCV000282862 RCV000547693 RCV000725080 RCV001848050 RCV004021106 RCV003989518 RCV004701368
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)	SNV Germline	Chr13:23340124	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911480	rs_76872266	9 SubmittersRCV000269188 RCV000282202 RCV000861200 RCV001086494 RCV001848052 RCV003947857
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)	SNV Germline	Chr14:67807405	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7240681	rs_199794711	3 SubmittersRCV000348382 RCV001086049 RCV001848053
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)	SNV Germline	Chr2:240745782	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 30 Neuropathy, hereditary sensory, type 2C Intellectual disability, autosomal dominant 9 Hereditary spastic paraplegia 30 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2207842	rs_200149062	11 SubmittersRCV000346892 RCV000725374 RCV001081283 RCV001136884 RCV001848054 RCV002314010
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)	SNV Germline	Chr15:44660558	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7535871	rs_201842512	6 SubmittersRCV000296854 RCV000692595 RCV002321952 RCV002467713 RCV002467714
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)	SNV Germline	Chr15:44652157	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 not specified	Criteria Provided Conflicting Classifications	CA7535662	rs_146109825	7 SubmittersRCV000259263 RCV000811912 RCV002379128 RCV002467716 RCV002467715 RCV004586659
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	SNV Germline	Chr13:23335854	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6910829	rs_34928783	9 SubmittersRCV000512830 RCV001085541 RCV001111636 RCV001848058 RCV004999227
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)	SNV Germline	Chr16:89526347	Pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Hereditary spastic paraplegia SPG7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8243731	rs_774774648	8 SubmittersRCV000276883 RCV000725648 RCV001848059 RCV003409411
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)	SNV Germline	Chr19:29702825	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4 Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA9351885	rs_146492790	10 SubmittersRCV000304840 RCV000468820 RCV001126321 RCV001848060 RCV003323494
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)	SNV Germline	Chr12:57570019	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia 10 Hereditary spastic paraplegia Inborn genetic diseases KIF5A-related disorder	Criteria Provided Conflicting Classifications	CA6652775	rs_143326964	11 SubmittersRCV000316036 RCV000725991 RCV001087471 RCV001114823 RCV001848061 RCV002521970 RCV004549595
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)	SNV Germline	Chr13:23332173	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910237	rs_146154135	6 SubmittersRCV000313782 RCV001089271 RCV001848062 RCV001782776
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)	SNV Germline	Chr13:23337868	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911152	rs_537408260	6 SubmittersRCV000401468 RCV000390861 RCV001087895 RCV001848064
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)	SNV Germline	Chr14:67783430	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia 15 Hereditary spastic paraplegia Colon adenocarcinoma Ovarian serous cystadenocarcinoma Uterine corpus endometrial carcinoma Sarcoma Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA7239917	rs_140756827	13 SubmittersRCV000316714 RCV000713434 RCV001082500 RCV001119777 RCV001848065 RCV005895852 RCV005895854 RCV005895856 RCV005895853 RCV005895855
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)	SNV Germline	Chr8:64616011	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Congenital bile acid synthesis defect 3 Congenital bile acid synthesis defect 3 Hereditary spastic paraplegia 5A CYP7B1-related disorder	Criteria Provided Conflicting Classifications	CA4764191	rs_145152682	7 SubmittersRCV000262419 RCV001232156 RCV001332520 RCV004725147 RCV004742366
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)	SNV Germline	Chr14:67775960	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 15 not specified Spastic paraplegia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7239587	rs_143981992	7 SubmittersRCV000343998 RCV000408268 RCV000633073 RCV001571869 RCV001848067
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)	SNV Germline	Chr14:67782888	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Hereditary spastic paraplegia 15 Hereditary spastic paraplegia Inborn genetic diseases ZFYVE26-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7239812	rs_148552744	7 SubmittersRCV000341865 RCV000860654 RCV001118235 RCV001848068 RCV002518084 RCV003930170 RCV004546476
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)	SNV Germline	Chr15:22812248	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary spastic paraplegia 6 Hereditary spastic paraplegia NIPA1-related disorder	Criteria Provided Conflicting Classifications	CA7426136	rs_139372534	8 SubmittersRCV000726331 RCV000616724 RCV001087083 RCV001848069 RCV003940067
NM_000533.5(PLP1):c.453G>A (p.Lys151=)	SNV Germline	ChrX:103786726	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 2 Pelizaeus-Merzbacher disease	Criteria Provided Multiple Submitters No Conflicts	CA10606773	rs_886044450	4 SubmittersRCV000380260 RCV000691268 RCV004595503
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)	SNV Germline	Chr2:201727708	Conflicting classifications of pathogenicity	ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia ALS2-related motor neuron disease Condition: not provided	Criteria Provided Conflicting Classifications	CA2058054	rs_375742430	5 SubmittersRCV000316456 RCV000361538 RCV000703570 RCV001848676 RCV005355653 RCV006263882

NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)

SNV
Germline

Chr14:67782840

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114476

rs_118204049

6 SubmittersRCV000000785 RCV001035676 RCV001555238

NM_015346.4(ZFYVE26):c.5485-1G>A

SNV
Germline

Chr14:67769731

Pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390167203

rs_1594898627

1 SubmittersRCV000000786

NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter)

SNV
Germline

Chr14:67802241

Pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA114478

rs_118204050

1 SubmittersRCV000000788

NM_024306.5(FA2H):c.786+1G>A

SNV
Germline

Chr16:74718987

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 35
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA396769346

rs_1567633766

3 SubmittersRCV000001098 RCV002512633

NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)

SNV
Germline

Chr16:74774653

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA251671

rs_121918217

4 SubmittersRCV000001099

NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)

SNV
Germline

Chr15:44573652

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA249690

rs_118203963

15 SubmittersRCV000001168 RCV000202373 RCV000414837 RCV000518418 RCV002354145 RCV005007805

NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr15:44663530

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA249693

rs_267607084

4 SubmittersRCV000001170 RCV000202382 RCV000193032 RCV005416315

NM_025137.4(SPG11):c.442+1G>C

SNV
Germline

Chr15:44660431

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA339868

rs_312262715

8 SubmittersRCV000001173 RCV001092501 RCV004689398

NM_025137.4(SPG11):c.7152-1G>C

SNV
Germline

Chr15:44563302

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA339869

rs_200079802

3 SubmittersRCV000001174

NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)

SNV
Germline

Chr15:44584057

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA339870

rs_141848292

15 SubmittersRCV000001175 RCV000413953 RCV002345222 RCV002482813

NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)

SNV
Germline

Chr8:125056817

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Inborn genetic diseases
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA339873

rs_80338867

11 SubmittersRCV000001220 RCV002227984 RCV003242958 RCV003320543 RCV001847561

NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)

SNV
Germline

Chr8:125057574

Pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA251713

rs_80338866

3 SubmittersRCV000001221 RCV001851527

NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp)

SNV
Germline

Chr8:125061192

Pathogenic

Hereditary spastic paraplegia 8

No Assertion Criteria Provided

CA339874

rs_80338865

2 SubmittersRCV000001222

NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)

SNV
Germline

Chr10:97749494

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 33
not specified
Spastic tetraparesis
Spastic paraplegia
Condition: not provided
Thyroid cancer, nonmedullary, 1
Melanoma
Cholangiocarcinoma
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Thymoma
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Cervical cancer
Uveal melanoma
Colon adenocarcinoma
Colorectal cancer
Sarcoma
Uterine corpus endometrial carcinoma
Gastric cancer
Uterine carcinosarcoma
Malignant tumor of esophagus
Lung cancer

Criteria Provided
Conflicting Classifications

CA114909

rs_35077384

12 SubmittersRCV000001352 RCV000407569 RCV000415084 RCV000471962 RCV001723530 RCV005887179 RCV005887180 RCV005887181 RCV005887167 RCV005887176 RCV005887178 RCV005887168 RCV005887170 RCV005887171 RCV005887172 RCV005887166 RCV005887173 RCV005887174 RCV005887183 RCV005887175 RCV005887177 RCV005887169 RCV005887182

NM_001371279.1(REEP1):c.183-2A>G

SNV
Germline

Chr2:86254816

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA115244

rs_387906264

2 SubmittersRCV000001937

NM_001371279.1(REEP1):c.837G>T (p.Ser279=)

SNV
Germline

Chr2:86217057

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Inborn genetic diseases
REEP1-related disorder
Neuronopathy, distal hereditary motor, type 5B
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA115245

rs_377637314

12 SubmittersRCV000001938 RCV003258655 RCV003904794 RCV001333150 RCV001703411 RCV001847563 RCV005417408

NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)

SNV
Germline

Chr2:86282216

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided
Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA115247

rs_121918262

8 SubmittersRCV000001939 RCV000713454 RCV001003951 RCV004955248 RCV001847564

NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr2:86252037

Pathogenic

Hereditary spastic paraplegia 31
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115251

rs_121918263

8 SubmittersRCV000001940 RCV001847565 RCV002243614

NM_020435.4(GJC2):c.108C>G (p.Ile36Met)

SNV
Germline

Chr1:228157866

Pathogenic

Hereditary spastic paraplegia 44

Criteria Provided
Single Submitter

CA115336

rs_75469429

2 SubmittersRCV000002159

NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg)

SNV
Germline

Chr15:22786790

Pathogenic

Hereditary spastic paraplegia 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115591

rs_104894496

3 SubmittersRCV000002628 RCV004719611

NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg)

SNV
Germline

Chr15:22812252

Pathogenic

Hereditary spastic paraplegia 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115593

rs_104894490

3 SubmittersRCV000002629 RCV006277635

NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)

SNV
Germline

Chr15:22812252

Pathogenic

Hereditary spastic paraplegia 6
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA115595

rs_104894490

16 SubmittersRCV000002631 RCV000713477 RCV001003981 RCV000516051

NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)

SNV
Germline

Chr14:50613343

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 1D
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA340228

rs_119476046

23 SubmittersRCV000004594 RCV000215830 RCV001003978 RCV001847579 RCV000850530

NM_015915.5(ATL1):c.776C>A (p.Ser259Tyr)

SNV
Germline

Chr14:50614425

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA253127

rs_119476047

2 SubmittersRCV000004595

NM_015915.5(ATL1):c.773A>G (p.His258Arg)

SNV
Germline

Chr14:50614422

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340230

rs_119476048

4 SubmittersRCV000004596 RCV006456600

NM_015915.5(ATL1):c.650G>A (p.Arg217Gln)

SNV
Germline

Chr14:50613278

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253129

rs_119476049

6 SubmittersRCV000004597 RCV001725929

NM_015915.5(ATL1):c.1222A>G (p.Met408Val)

SNV
Germline

Chr14:50628133

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA340232

rs_28939094

4 SubmittersRCV000004599

NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)

SNV
Germline

Chr14:50628154

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204596

rs_119476050

13 SubmittersRCV000004600 RCV000190652 RCV001090532

NM_015915.5(ATL1):c.470T>G (p.Leu157Trp)

SNV
Germline

Chr14:50591587

Pathogenic

Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

CA340234

rs_119476051

2 SubmittersRCV000004601

NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)

SNV
Germline

Chr11:62692413

Pathogenic

Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Berardinelli-Seip congenital lipodystrophy
Severe neurodegenerative syndrome with lipodystrophy
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Congenital generalized lipodystrophy type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA277926

rs_137852971

5 SubmittersRCV000004797 RCV003581554 RCV003311642 RCV005049316

NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)

SNV
Germline

Chr11:62702493

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 17
Condition: not provided
Neuronopathy, distal hereditary motor, type 5A
Hereditary spastic paraplegia 17
Charcot-Marie-Tooth disease type 2
Neuronopathy, distal hereditary motor, type 5C
Abnormal central motor function
Berardinelli-Seip congenital lipodystrophy
BSCL2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116912

rs_137852973

15 SubmittersRCV000004803 RCV000235980 RCV000755016 RCV000547334 RCV001270681 RCV001813950 RCV003311647 RCV004766979

NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)

SNV
Germline

Chr13:23336372

Pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA340433

rs_281865118

13 SubmittersRCV000005848 RCV001268308 RCV001851681 RCV001847584

NM_014946.4(SPAST):c.1085C>G (p.Ser362Cys)

SNV
Germline

Chr2:32116199

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA253546

rs_121908509

1 SubmittersRCV000006011

NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr)

SNV
Germline

Chr2:32136898

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253548

rs_121908510

3 SubmittersRCV000006012 RCV004589497

NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)

SNV
Germline

Chr2:32141905

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Spastic paraparesis
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA253551

rs_121908511

15 SubmittersRCV000006014 RCV000415256 RCV000523541 RCV001847585

NM_014946.4(SPAST):c.1688-2A>G

SNV
Germline

Chr2:32147216

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253553

rs_587777752

5 SubmittersRCV000006015 RCV001091365

NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)

SNV
Germline

Chr2:32136877

Pathogenic

Hereditary spastic paraplegia 4
Tics
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253555

rs_121908512

5 SubmittersRCV000006018 RCV001849258 RCV004719628

NM_014946.4(SPAST):c.1728+1G>C

SNV
Germline

Chr2:32147259

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA253557

rs_587777754

1 SubmittersRCV000006019

NM_014946.4(SPAST):c.1245+4A>G

SNV
Germline

Chr2:32128483

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253558

rs_587777755

3 SubmittersRCV000006020 RCV003225018

NM_014946.4(SPAST):c.1031T>A (p.Ile344Lys)

SNV
Germline

Chr2:32116145

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Single Submitter

CA253560

rs_121908513

2 SubmittersRCV000006022 RCV005639066

NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)

SNV
Germline

Chr2:32127006

Pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA253562

rs_121908514

4 SubmittersRCV000006023 RCV001847586

NM_014946.4(SPAST):c.1409A>T (p.Asp470Val)

SNV
Germline

Chr2:32136964

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA253564

rs_121908516

2 SubmittersRCV000006024

NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)

SNV
Germline

Chr2:32063965

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA117671

rs_121908517

8 SubmittersRCV000006026 RCV000584902 RCV000845266 RCV001847588 RCV004998076

NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly)

SNV
Germline

Chr2:32145004

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA253566

rs_121908518

2 SubmittersRCV000006027

NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)

SNV
Germline

Chr2:32128450

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA253568

rs_587777757

8 SubmittersRCV000006029 RCV000497406 RCV001847589

NM_014946.4(SPAST):c.1335C>A (p.Ser445Arg)

SNV
Germline

Chr2:32136890

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA253570

rs_121908519

1 SubmittersRCV000006030

NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)

SNV
Germline

Chr8:64604753

Pathogenic

Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA117938

rs_72554620

6 SubmittersRCV000006474 RCV000006473 RCV000800899

NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)

SNV
Germline

Chr8:64604827

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210940

rs_121908610

5 SubmittersRCV000006475 RCV001847590 RCV003750776 RCV006250234

NM_004820.5(CYP7B1):c.169G>A (p.Gly57Arg)

SNV
Germline

Chr8:64624493

Pathogenic

Hereditary spastic paraplegia 5A

No Assertion Criteria Provided

CA210941

rs_121908614

1 SubmittersRCV000006476

NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)

SNV
Germline

Chr8:64596913

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
CYP7B1-related disorder
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A

Criteria Provided
Multiple Submitters
No Conflicts

CA210942

rs_121908611

9 SubmittersRCV000006477 RCV000206595 RCV000329074 RCV001847591 RCV003894794 RCV005041995

NM_004820.5(CYP7B1):c.647T>C (p.Phe216Ser)

SNV
Germline

Chr8:64615894

Pathogenic

Hereditary spastic paraplegia 5A

No Assertion Criteria Provided

CA210943

rs_121908612

1 SubmittersRCV000006478

NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)

SNV
Germline

Chr8:64615716

Pathogenic

Hereditary spastic paraplegia 5A
Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A

Criteria Provided
Multiple Submitters
No Conflicts

CA210944

rs_121908613

15 SubmittersRCV000006479 RCV000260437 RCV000515995 RCV000553161 RCV005049318

NM_004820.5(CYP7B1):c.1408T>A (p.Phe470Ile)

SNV
Germline

Chr8:64596755

Pathogenic

Hereditary spastic paraplegia 5A

No Assertion Criteria Provided

CA210946

rs_267606758

1 SubmittersRCV000006480

NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)

SNV
Germline

Chr8:64596707

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A
CHD7-related CHARGE syndrome
CYP7B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210948

rs_116171274

26 SubmittersRCV000006481 RCV000197085 RCV000290486 RCV000516130 RCV002476935 RCV006635413 RCV003398453

NM_004733.4(SLC33A1):c.339T>G (p.Ser113Arg)

SNV
Germline

Chr3:155853659

Pathogenic

Hereditary spastic paraplegia 42

No Assertion Criteria Provided

CA117967

rs_121909484

1 SubmittersRCV000006506

NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)

SNV
Germline

Chr19:7556507

Pathogenic

Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome

No Assertion Criteria Provided

CA118368

rs_121434415

2 SubmittersRCV000006984 RCV001559128

NM_001166114.2(PNPLA6):c.2783G>A (p.Arg928His)

SNV
Germline

Chr19:7555041

Pathogenic

Hereditary spastic paraplegia 39

No Assertion Criteria Provided

CA118370

rs_121434416

1 SubmittersRCV000006985

NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)

SNV
Germline

Chr12:57569015

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA118520

rs_121434441

2 SubmittersRCV000007208

NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)

SNV
Germline

Chr12:57569274

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA118521

rs_121434442

9 SubmittersRCV000007209 RCV001387529 RCV000993045 RCV001847593

NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)

SNV
Germline

Chr12:57569263

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
KIF5A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA118522

rs_121434443

5 SubmittersRCV000007210 RCV000518461 RCV000534416 RCV004766984

NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)

SNV
Germline

Chr12:57569648

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
not specified
Spastic paraplegia
KIF5A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA118523

rs_121434444

5 SubmittersRCV000007211 RCV001175553 RCV001066186 RCV004737140 RCV003456358

NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)

SNV
Germline

Chr16:89553932

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA253965

rs_121918357

2 SubmittersRCV000007217

NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)

SNV
Germline

Chr16:89510539

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Proximal spinal muscular atrophy
Hereditary spastic paraplegia
Retinal dystrophy
SPG7-related disorder
Hereditary ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA253966

rs_121918358

33 SubmittersRCV000007218 RCV000200640 RCV000664258 RCV001847594 RCV004814852 RCV004752689 RCV005624679

NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)

SNV
Germline

Chr16:89531961

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
SPG7-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253968

rs_141659620

41 SubmittersRCV000007221 RCV000198037 RCV001847595 RCV002512867 RCV004752690 RCV004814853

NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)

SNV
Germline

Chr16:89550579

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253969

rs_267607085

7 SubmittersRCV000007222 RCV000996411

NC_012920.1(MT-TK):m.8344A>G

SNV
Germline

ChrMT:8344

Pathogenic

MERRF syndrome
Parkinson disease, mitochondrial
Leigh syndrome
Condition: not provided
Mitochondrial disease
MELAS syndrome
MT-TK-related mitochondrial disorder
MT-TK-related disorder
Complex hereditary spastic paraplegia
Thrombocythemia 2
Primary Mitochondrial Disorders

Reviewed By Expert Panel

CA254836

rs_118192098

19 SubmittersRCV000010192 RCV000010194 RCV000010193 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290 RCV004766996 RCV005862705 RCV006555292

NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:134377619

Pathogenic

Borjeson-Forssman-Lehmann syndrome
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121334

rs_132630300

7 SubmittersRCV000011817 RCV002286694 RCV002512974

NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)

SNV
Germline

ChrX:103785621

Pathogenic/Likely pathogenic

Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255678

rs_11543022

4 SubmittersRCV000011824 RCV001851798 RCV005222680

NM_000533.5(PLP1):c.560T>C (p.Ile187Thr)

SNV
Germline

ChrX:103787904

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA255701

rs_132630288

3 SubmittersRCV000011834 RCV004595482

NM_000533.5(PLP1):c.3G>A (p.Met1Ile)

SNV
Germline

ChrX:103776998

Pathogenic

Pelizaeus-Merzbacher disease, mild
Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA121352

rs_132630290

2 SubmittersRCV000011836 RCV001851799

NM_000533.5(PLP1):c.710T>C (p.Phe237Ser)

SNV
Germline

ChrX:103789346

Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Single Submitter

CA255707

rs_132630291

2 SubmittersRCV000011838 RCV004595483

NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)

SNV
Germline

ChrX:103786707

Pathogenic/Likely pathogenic

Pelizaeus-Merzbacher disease, atypical
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA121354

rs_132630292

3 SubmittersRCV000011839 RCV000801130 RCV004595484

NM_000533.5(PLP1):c.509C>T (p.Ser170Phe)

SNV
Germline

ChrX:103787853

Likely pathogenic

Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Single Submitter

CA255710

rs_132630294

2 SubmittersRCV000011841 RCV001786328

NM_000533.5(PLP1):c.409C>T (p.Arg137Trp)

SNV
Germline

ChrX:103786682

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease
not specified

Criteria Provided
Conflicting Classifications

CA255713

rs_132630295

4 SubmittersRCV000011847 RCV004595485 RCV006263625

NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)

SNV
Germline

Chr15:89327201

Pathogenic/Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Condition: not provided
POLG-related disorder
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Neurodevelopmental delay
Hereditary spastic paraplegia
Inborn genetic diseases
Intellectual disability
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA123140

rs_113994095

55 SubmittersRCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000184011 RCV000188658 RCV000347876 RCV000508942 RCV001004604 RCV001198082 RCV001376079 RCV001813983 RCV001731286 RCV002273931 RCV001847600 RCV002316195 RCV005624689 RCV005887499

NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)

SNV
Germline

Chr15:89321792

Pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Condition: not provided
POLG-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Mitochondrial disease
Inborn genetic diseases
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome
6 conditions
Possible mitochondrial disorder - nuclear genes
Mitochondrial DNA maintenance disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA123144

rs_113994098

39 SubmittersRCV000014449 RCV000014450 RCV000014451 RCV000014452 RCV000188580 RCV000363602 RCV000678386 RCV001027839 RCV002054437 RCV002272018 RCV002313707 RCV001847601 RCV003230362 RCV005364878 RCV006649843 RCV006697617

NM_002693.3(POLG):c.752C>T (p.Thr251Ile)

SNV
Germline

Chr15:89330184

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 1
Progressive sclerosing poliodystrophy
Condition: not provided
not specified
POLG-related disorder
Global developmental delay
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Hereditary spastic paraplegia
Abnormality of the nervous system
Inborn genetic diseases
Mitochondrial disease
Hypertrophic cardiomyopathy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
See cases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
6 conditions
Mitochondrial DNA depletion syndrome

Criteria Provided
Conflicting Classifications

CA123142

rs_113994094

51 SubmittersRCV000014448 RCV000014447 RCV000020484 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001678594 RCV001642225 RCV001847602 RCV001813985 RCV002313708 RCV002272019 RCV002319423 RCV003458331 RCV004584325 RCV005007846 RCV005357125 RCV005406744

NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)

SNV
Germline

Chr15:89325639

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
not specified
Progressive sclerosing poliodystrophy
Global developmental delay
Condition: not provided
Mitochondrial disease
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Abnormality of the nervous system
Hereditary spastic paraplegia
Inborn genetic diseases
Hypertrophic cardiomyopathy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
See cases
6 conditions
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA123146

rs_113994096

52 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000408293 RCV000415307 RCV000427845 RCV000508752 RCV001004602 RCV001610290 RCV001642226 RCV001813986 RCV001847603 RCV002313709 RCV002319424 RCV003458332 RCV004584326 RCV005357126 RCV006439572

NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)

SNV
Germline

Chr15:89323460

Pathogenic/Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Hereditary spastic paraplegia
Inborn genetic diseases
Tip-toe gait
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA201029

rs_121918054

39 SubmittersRCV000014467 RCV000188568 RCV000233045 RCV000370280 RCV000508744 RCV000768053 RCV001004601 RCV001813987 RCV001847605 RCV002316196 RCV003318542 RCV005862713

NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)

SNV
Germline

Chr20:58905443

Pathogenic

Pseudohypoparathyroidism
Condition: not provided
Hereditary spastic paraplegia 4
Pseudohypoparathyroidism type I A

Criteria Provided
Multiple Submitters
No Conflicts

CA126062

rs_137854532

6 SubmittersRCV000017286 RCV002054444 RCV001729350 RCV002288507

NM_002156.5(HSPD1):c.292G>A (p.Val98Ile)

SNV
Germline

Chr2:197497275

Pathogenic

Hereditary spastic paraplegia 13

Criteria Provided
Single Submitter

CA127251

rs_66468541

2 SubmittersRCV000019112

NM_002693.3(POLG):c.970C>T (p.Pro324Ser)

SNV
Germline

Chr15:89328996

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder
Hereditary spastic paraplegia
Inborn genetic diseases
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA292863

rs_2307437

18 SubmittersRCV000127555 RCV000468571 RCV000710190 RCV001121509 RCV001847613 RCV002371780 RCV005624701

NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)

SNV
Germline

Chr14:50591584

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342181

rs_137852657

4 SubmittersRCV000020721 RCV000713455

NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)

SNV
Germline

Chr2:240788118

Pathogenic

Intellectual disability, autosomal dominant 9
PEHO syndrome
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA212601

rs_387906799

10 SubmittersRCV000023087 RCV000207102 RCV000235916 RCV000690609 RCV004541014

NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)

SNV
Germline

Chr7:100104125

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 50
Spastic paraplegia
AP-4 deficiency syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA342728

rs_387906838

4 SubmittersRCV000023191 RCV001849279 RCV006439583

NM_015915.5(ATL1):c.196G>C (p.Glu66Gln)

SNV
Germline

Chr14:50587992

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 1D
Condition: not provided
Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA129352

rs_200314808

6 SubmittersRCV000023543 RCV000236565 RCV000543629 RCV002415427

NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)

SNV
Germline

Chr14:50628157

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
Neuropathy, hereditary sensory, type 1D
Hereditary spastic paraplegia 3A
Neuropathy, hereditary sensory, type 1D

Criteria Provided
Multiple Submitters
No Conflicts

CA259834

rs_387906941

11 SubmittersRCV000023545 RCV001847621 RCV002513195 RCV002285257 RCV005862734 RCV004767019

NM_020435.4(GJC2):c.-167A>G

SNV
Germline

Chr1:228149860

Pathogenic/Likely pathogenic

Hypomyelinating leukodystrophy 2
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 44
autosomal recessive GJC2-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA129449

rs_587776888

7 SubmittersRCV000023738 RCV000633051 RCV001781305 RCV005867796 RCV006699179

NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)

SNV
Germline

Chr16:74719071

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
not specified
Condition: not provided
Intellectual disability

Criteria Provided
Conflicting Classifications

CA259927

rs_387907039

6 SubmittersRCV000023855 RCV001797590 RCV002509169 RCV005624706

NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)

SNV
Germline

Chr16:74727290

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Neurodegeneration with brain iron accumulation
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA259930

rs_387907040

7 SubmittersRCV000023857 RCV000483483 RCV003317044 RCV002513207

NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)

SNV
Germline

Chr14:67772109

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA129542

rs_387907057

3 SubmittersRCV000023921 RCV001852032

NM_031448.6(C19orf12):c.-2C>T

SNV
Germline

Chr19:29708415

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Condition: not provided
Abnormality of iron homeostasis
Neurodegeneration with brain iron accumulation
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43

Criteria Provided
Multiple Submitters
No Conflicts

CA342784

rs_397514477

15 SubmittersRCV000024152 RCV000426086 RCV001004003 RCV004700277 RCV003743545 RCV005016294

NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)

SNV
Germline

Chr19:29702966

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Adult-onset night blindness
Peripheral visual field loss
Dystonic disorder
Mental deterioration
Tremor
Hereditary spastic paraplegia 43
Condition: not provided
Neurodegeneration with brain iron accumulation
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4

Criteria Provided
Multiple Submitters
No Conflicts

CA345637

rs_515726205

11 SubmittersRCV000024153 RCV000414809 RCV000528859 RCV001781312 RCV003230372 RCV005016295

NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)

SNV
Germline

Chr19:29702747

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Mental deterioration
Dystonic disorder
Tremor
Adult-onset night blindness
Peripheral visual field loss
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4
Condition: not provided
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia 43
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA259994

rs_146170087

16 SubmittersRCV000024154 RCV000415210 RCV000509226 RCV000553096 RCV000714889 RCV001083182 RCV001844017 RCV001847623

NM_024306.5(FA2H):c.707T>C (p.Phe236Ser)

SNV
Germline

Chr16:74719067

Pathogenic

Hereditary spastic paraplegia 35

No Assertion Criteria Provided

CA260036

rs_387907172

1 SubmittersRCV000024321

NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly)

SNV
Germline

Chr2:240773246

Likely pathogenic

Hereditary spastic paraplegia 30
Spastic paraplegia 30B, autosomal recessive

Criteria Provided
Single Submitter

CA130024

rs_387907259

2 SubmittersRCV000030681 RCV004584597

NM_006070.6(TFG):c.854C>T (p.Pro285Leu)

SNV
Germline

Chr3:100748182

Pathogenic/Likely pathogenic

Hereditary motor and sensory neuropathy, Okinawa type
Condition: not provided
Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Amyotrophic Lateral Sclerosis with Sensory Neuropathy
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA130077

rs_207482230

8 SubmittersRCV000030736 RCV000218755 RCV000642397 RCV001095428 RCV002251934

NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr12:57568999

Pathogenic

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Myoclonus, intractable, neonatal

Criteria Provided
Multiple Submitters
No Conflicts

CA130084

rs_387907285

9 SubmittersRCV000030758 RCV000205648 RCV000756292 RCV004767023

NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)

SNV
Germline

Chr12:57576825

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA130085

rs_387907286

4 SubmittersRCV000030759 RCV000498777 RCV001852613 RCV004525859

NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)

SNV
Germline

Chr12:57567515

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 10
Spastic paraplegia
Myoclonus, intractable, neonatal
Condition: not provided
KIF5A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130087

rs_387907287

14 SubmittersRCV000030760 RCV000168349 RCV001196631 RCV001682718 RCV002468980

NM_004984.4(KIF5A):c.839G>A (p.Arg280His)

SNV
Germline

Chr12:57569275

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 10
Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia
Demyelinating peripheral neuropathy

Criteria Provided
Multiple Submitters
No Conflicts

CA130088

rs_387907288

10 SubmittersRCV000030761 RCV000515919 RCV001268862 RCV001061322 RCV002051649

NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu)

SNV
Germline

Chr12:57567608

Likely pathogenic

Hereditary spastic paraplegia 10
Condition: not provided

Criteria Provided
Single Submitter

CA130089

rs_387907289

2 SubmittersRCV000030762 RCV004719665

NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)

SNV
Germline

Chr1:9982630

Pathogenic/Likely pathogenic

Leber congenital amaurosis 9
Condition: not provided
Leber congenital amaurosis
7 conditions
Retinal dystrophy
Inborn genetic diseases
NMNAT1-related disorder
Retinal disorder
autosomal recessive NMNAT1-related disorders.
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Leber congenital amaurosis 9
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Cone-rod dystrophy
Autosomal recessive NMNAT1-related disorders
Hereditary Spastic Paraplegia (HSP)

Criteria Provided
Multiple Submitters
No Conflicts

CA342906

rs_150726175

26 SubmittersRCV000030765 RCV000255806 RCV000504859 RCV001003567 RCV001075816 RCV004639123 RCV004757953 RCV006255132 RCV006633889 RCV006683976 RCV005394179 RCV005624712 RCV006634295 RCV006708322

NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)

SNV
Germline

Chr4:107945426

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 56
Neurodegeneration
Global developmental delay
Spastic paraplegia
Condition: not provided
CYP2U1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130341

rs_397514513

13 SubmittersRCV000032696 RCV000162142 RCV000162185 RCV000442087 RCV004751232

NM_183075.3(CYP2U1):c.1139A>G (p.Glu380Gly)

SNV
Germline

Chr4:107947388

Pathogenic

Hereditary spastic paraplegia 56

No Assertion Criteria Provided

CA130342

rs_397514514

1 SubmittersRCV000032697

NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)

SNV
Germline

Chr4:107945263

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Multiple Submitters
No Conflicts

CA130343

rs_397514515

3 SubmittersRCV000032699

NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)

SNV
Germline

Chr4:107950250

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 56
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130344

rs_141431913

7 SubmittersRCV000032700 RCV000814689 RCV001847627 RCV002264909

NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)

SNV
Germline

Chr12:123256924

Pathogenic

Hereditary spastic paraplegia 55
Condition: not provided
Combined oxidative phosphorylation defect type 7
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA130375

rs_397514539

4 SubmittersRCV000032782 RCV000733240 RCV002228073

NM_001160148.2(DDHD1):c.1766G>A (p.Arg589Gln)

SNV
Germline

Chr14:53062943

Pathogenic

Hereditary spastic paraplegia 28
Cervical cancer

No Assertion Criteria Provided

CA389762429

rs_1446744416

2 SubmittersRCV000032875 RCV005888871

NM_001160148.2(DDHD1):c.1249C>T (p.Gln417Ter)

SNV
Germline

Chr14:53091825

Pathogenic

Hereditary spastic paraplegia 28

No Assertion Criteria Provided

CA389766962

rs_2139675094

1 SubmittersRCV000032877

NM_001160148.2(DDHD1):c.2522-1G>T

SNV
Germline

Chr14:53046950

Pathogenic

Hereditary spastic paraplegia 28

No Assertion Criteria Provided

CA389767635

rs_2139806225

1 SubmittersRCV000032878

NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)

SNV
Germline

Chr8:38253642

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 54
Generalized epilepsy
Obesity
Global developmental delay
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA130449

rs_375168720

14 SubmittersRCV000032883 RCV000449619 RCV001569601 RCV001847628 RCV004975267

NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter)

SNV
Germline

Chr8:38252216

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA130451

rs_373856119

4 SubmittersRCV000032884

NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)

SNV
Germline

Chr8:38245752

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 54
Condition: not provided

No Assertion Criteria Provided

CA130453

rs_398122826

4 SubmittersRCV000032885 RCV001529426

NM_152415.3(VPS37A):c.1146A>T (p.Lys382Asn)

SNV
Germline

Chr8:17286379

Pathogenic

Hereditary spastic paraplegia 53

No Assertion Criteria Provided

CA213061

rs_211694394

1 SubmittersRCV000032956

NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)

SNV
Germline

Chr15:44651712

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA344293

rs_312262723

7 SubmittersRCV000034170 RCV005007926

NM_025137.4(SPG11):c.1457-2A>G

SNV
Germline

Chr15:44649013

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Thymoma

Criteria Provided
Multiple Submitters
No Conflicts

CA344297

rs_312262726

6 SubmittersRCV000034173 RCV001847631 RCV005007927 RCV005888918

NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)

SNV
Germline

Chr15:44633561

Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Single Submitter

CA344304

rs_312262732

2 SubmittersRCV000034180 RCV003441725

NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)

SNV
Germline

Chr15:44628785

Pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344310

rs_199588440

11 SubmittersRCV000034185 RCV003317055 RCV004589527 RCV004767028

NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr15:44626429

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344312

rs_312262737

8 SubmittersRCV000034186 RCV000414282 RCV001807747

NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)

SNV
Germline

Chr15:44626377

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

No Assertion Criteria Provided

CA277006

rs_312262739

2 SubmittersRCV000034188 RCV000192703

NM_025137.4(SPG11):c.2316+1G>A

SNV
Germline

Chr15:44622727

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
SPG11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344315

rs_312262740

10 SubmittersRCV000034189 RCV000713416 RCV001847632 RCV004748544

NM_025137.4(SPG11):c.2444+1G>C

SNV
Germline

Chr15:44622219

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344317

rs_312262743

4 SubmittersRCV000034191 RCV006698008

NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)

SNV
Germline

Chr15:44621771

Pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA344320

rs_312262745

2 SubmittersRCV000034194 RCV004799754

NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)

SNV
Germline

Chr15:44660607

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA277361

rs_312262709

11 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485 RCV005007929

NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)

SNV
Germline

Chr15:44620191

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA344327

rs_312262748

3 SubmittersRCV000034199 RCV005007931

NM_025137.4(SPG11):c.2834+1G>T

SNV
Germline

Chr15:44620189

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA344329

rs_312262749

10 SubmittersRCV000034200 RCV001836722 RCV003458191 RCV005007932 RCV005742009

NM_025137.4(SPG11):c.3291+1G>T

SNV
Germline

Chr15:44610839

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA344332

rs_312262753

4 SubmittersRCV000034205 RCV001270133

NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)

SNV
Germline

Chr15:44660525

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA344333

rs_312262711

2 SubmittersRCV000034207

NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)

SNV
Germline

Chr15:44589312

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Single Submitter

CA344349

rs_312262762

2 SubmittersRCV000034220 RCV004794351

NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)

SNV
Germline

Chr15:44584210

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
SPG11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344354

rs_312262767

6 SubmittersRCV000034225 RCV000731318 RCV005867812

NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)

SNV
Germline

Chr15:44574934

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277266

rs_200793464

4 SubmittersRCV000034234 RCV000194146 RCV000255514

NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)

SNV
Germline

Chr15:44574931

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344365

rs_312262774

3 SubmittersRCV000034235 RCV005007933 RCV005600627

NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)

SNV
Germline

Chr15:44573661

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia
SPG11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344370

rs_147713329

12 SubmittersRCV000034241 RCV001092496 RCV001331384 RCV001847636 RCV005229845

NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)

SNV
Germline

Chr15:44573595

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA344372

rs_149003934

8 SubmittersRCV000034242 RCV000594035 RCV002467534 RCV002477051 RCV002467533

NM_025137.4(SPG11):c.6206-1G>C

SNV
Germline

Chr15:44572821

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA344374

rs_312262778

2 SubmittersRCV000034243

NM_025137.4(SPG11):c.6477+4A>G

SNV
Germline

Chr15:44570521

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA344377

rs_312262780

6 SubmittersRCV000034246 RCV001847637 RCV002467536 RCV002467535

NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)

SNV
Germline

Chr15:44565997

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Metabolic disease

Criteria Provided
Multiple Submitters
No Conflicts

CA344384

rs_312262785

11 SubmittersRCV000034254 RCV001546365 RCV001847638 RCV002362611 RCV004767030 RCV005624720

NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)

SNV
Germline

Chr15:44564675

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA344390

rs_80338869

7 SubmittersRCV000034258 RCV000421146 RCV001847639

NM_025137.4(SPG11):c.869+1G>A

SNV
Germline

Chr15:44657094

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA344399

rs_312262721

4 SubmittersRCV000034268

NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)

SNV
Germline

Chr15:44648976

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344461

rs_312262728

5 SubmittersRCV000034301 RCV001092499

NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)

SNV
Germline

Chr9:35738811

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 46
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130873

rs_398123012

4 SubmittersRCV000034369 RCV000515985 RCV005638409

NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)

SNV
Germline

Chr9:35741758

Pathogenic

Hereditary spastic paraplegia 46
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA130874

rs_398123013

5 SubmittersRCV000034370 RCV001268639 RCV005055533

NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr9:35740833

Pathogenic

Hereditary spastic paraplegia 46
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA130876

rs_398123014

3 SubmittersRCV000034373 RCV001043691

NM_020944.3(GBA2):c.2618G>A (p.Arg873His)

SNV
Germline

Chr9:35737335

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 46
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA130878

rs_398123015

3 SubmittersRCV000034374 RCV000515888

NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)

SNV
Germline

Chr16:89546737

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Spastic Paraplegia, Recessive
Hereditary spastic paraplegia
Inborn genetic diseases
Spastic paraparesis
Dysarthria
Gait ataxia
Cerebral cortical atrophy
Intellectual disability
Spastic ataxia
Sensorimotor neuropathy
SPG7-related disorder
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Uterine corpus endometrial carcinoma
Retinal dystrophy
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer, nonmedullary, 1
Melanoma
Acute myeloid leukemia
Clear cell carcinoma of kidney
Sarcoma
Hepatocellular carcinoma
Cervical cancer
Optic neuropathy
Uveal melanoma
Gastric cancer
Lung cancer
Familial cancer of breast
Possible mitochondrial disorder - nuclear genes
Mitochondrial DNA maintenance disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA090884

rs_61755320

73 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000850200 RCV001003619 RCV003421943 RCV002463623 RCV005888966 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV006700620 RCV006700621

NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr)

SNV
Germline

Chr9:92719122

Conflicting classifications of pathogenicity

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

CA143972

rs_398123031

2 SubmittersRCV000049278 RCV003311674

NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)

SNV
Germline

Chr14:50628155

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA264213

rs_397514712

4 SubmittersRCV000050231 RCV000480817

NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)

SNV
Germline

Chr12:57630182

Pathogenic

Hereditary spastic paraplegia 26
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA144547

rs_398122382

6 SubmittersRCV000054420 RCV005089450

NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr12:57631225

Pathogenic

Hereditary spastic paraplegia 26
Condition: not provided

Criteria Provided
Single Submitter

CA10575594

rs_879255241

2 SubmittersRCV000054422 RCV000760467

NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)

SNV
Germline

Chr12:57627704

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 26

No Assertion Criteria Provided

CA10575595

rs_879255242

2 SubmittersRCV000054423

NM_015375.3(DSTYK):c.654+1G>A

SNV
Germline

Chr1:205187417

Conflicting classifications of pathogenicity

Congenital anomalies of kidney and urinary tract 1
Condition: not provided
Hereditary spastic paraplegia 23
DSTYK-related disorder
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA1353006

rs_201091809

7 SubmittersRCV000054497 RCV001853078 RCV003387748 RCV003905015 RCV005890367 RCV005890366

NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala)

SNV
Germline

Chr8:125055601

Pathogenic

Hereditary spastic paraplegia 8

No Assertion Criteria Provided

CA345045

rs_397515564

2 SubmittersRCV000055943

NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)

SNV
Germline

Chr12:57576834

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
not specified
Hereditary spastic paraplegia
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6653063

rs_140281678

12 SubmittersRCV000389116 RCV000522245 RCV001084410 RCV001287992 RCV001847646 RCV004549495

NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)

SNV
Germline

Chr12:123256945

Likely pathogenic

Hereditary spastic paraplegia 55

Criteria Provided
Single Submitter

CA145384

rs_398122365

2 SubmittersRCV000074452

NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)

SNV
Germline

Chr19:29708260

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA145387

rs_376103979

9 SubmittersRCV000074454 RCV000074453 RCV000493663 RCV005025116 RCV006342100

NM_007175.8(ERLIN2):c.499-1G>T

SNV
Germline

Chr8:37749793

Pathogenic

Hereditary spastic paraplegia 18

No Assertion Criteria Provided

CA145505

rs_398123002

1 SubmittersRCV000077785

NM_020944.3(GBA2):c.1780G>C (p.Asp594His)

SNV
Germline

Chr9:35739017

Likely pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

CA145524

rs_398123064

2 SubmittersRCV000077800

NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)

SNV
Germline

ChrX:153866778

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA208427

rs_36021462

15 SubmittersRCV000194324 RCV000439917 RCV001083170 RCV001847649 RCV002313749 RCV005625271

NM_000533.5(PLP1):c.737G>C (p.Gly246Ala)

SNV
Germline

ChrX:103789373

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221114

rs_398123467

3 SubmittersRCV000079102 RCV000794114 RCV004595494

NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)

SNV
Germline

ChrX:74422049

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
SLC16A2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA222960

rs_145061343

9 SubmittersRCV000514434 RCV001251643 RCV001087210 RCV001847654 RCV002362728 RCV003905062 RCV006445500

NM_001271803.2(REEP2):c.107T>A (p.Val36Glu)

SNV
Germline

Chr5:138441386

Pathogenic

Hereditary spastic paraplegia 72

No Assertion Criteria Provided

CA149705

rs_483352923

1 SubmittersRCV003444057

NM_001377265.1(MAPT):c.2091+16C>T

SNV
Germline

Chr17:46010418

Pathogenic

Condition: not provided
Mental deterioration
Frontotemporal dementia
Memory impairment
Dementia
Frontotemporal dementia
MAPT-related disorder
Progressive supranuclear palsy-parkinsonism syndrome
Adult onset neurodegenerative disorder
Adult onset hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA225465

rs_63751011

15 SubmittersRCV000084537 RCV000626753 RCV000626752 RCV000687510 RCV003415858 RCV004593990 RCV006629077 RCV006742281

NM_001351169.2(NT5C2):c.85C>T (p.Arg29Ter)

SNV
Germline

Chr10:103174874

Pathogenic

Hereditary spastic paraplegia 45
Condition: not provided

Criteria Provided
Single Submitter

CA214457

rs_587777173

2 SubmittersRCV000087268 RCV001310575

NM_001351169.2(NT5C2):c.989-1G>T

SNV
Germline

Chr10:103093310

Pathogenic

Hereditary spastic paraplegia 45

No Assertion Criteria Provided

CA10575623

rs_886037657

1 SubmittersRCV000087270

NM_001351169.2(NT5C2):c.445A>T (p.Arg149Ter)

SNV
Germline

Chr10:103101271

Pathogenic

Hereditary spastic paraplegia 45

No Assertion Criteria Provided

CA214459

rs_587777174

1 SubmittersRCV000087271

NM_001351169.2(NT5C2):c.175+1G>A

SNV
Germline

Chr10:103139405

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA10575624

rs_886037658

2 SubmittersRCV000087272

NM_006070.6(TFG):c.316C>T (p.Arg106Cys)

SNV
Germline

Chr3:100728759

Pathogenic

Hereditary spastic paraplegia 57
Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA150664

rs_587777175

6 SubmittersRCV000087273 RCV001038327 RCV001549766 RCV002321583

NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile)

SNV
Germline

Chr19:7556502

Pathogenic

Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA150705

rs_587777181

2 SubmittersRCV000087297 RCV001854508

NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)

SNV
Germline

Chr19:7557185

Pathogenic/Likely pathogenic

Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Multiple Submitters
No Conflicts

CA150708

rs_587777182

3 SubmittersRCV000087299 RCV001196947 RCV002515780

NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu)

SNV
Germline

Chr19:7554578

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 39

No Assertion Criteria Provided

CA150712

rs_587777185

2 SubmittersRCV000087302

NM_006612.6(KIF1C):c.183G>A (p.Ser61=)

SNV
Germline

Chr17:5000848

Likely pathogenic

Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA10602383

rs_886041035

2 SubmittersRCV000087325 RCV001847658

NM_001776.6(ENTPD1):c.628G>A (p.Gly210Arg)

SNV
Germline

Chr10:95845411

Pathogenic

Hereditary spastic paraplegia 64

No Assertion Criteria Provided

CA377823056

rs_1566229309

1 SubmittersRCV000087329

NM_001776.6(ENTPD1):c.520G>T (p.Glu174Ter)

SNV
Germline

Chr10:95844582

Pathogenic

Hereditary spastic paraplegia 64

No Assertion Criteria Provided

CA214471

rs_587777200

1 SubmittersRCV000087330

NM_015214.3(DDHD2):c.1057+5C>G

SNV
Germline

Chr8:38245955

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Senior-Loken syndrome 6

Criteria Provided
Conflicting Classifications

CA10575627

rs_886037659

3 SubmittersRCV000087336 RCV005859504

NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)

SNV
Germline

Chr8:64615194

Pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia
Condition: not provided
CYP7B1-related disorder
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA210987

rs_587777222

9 SubmittersRCV000106302 RCV000200232 RCV000422978 RCV003415876 RCV004782239

NM_002361.4(MAG):c.1288T>G (p.Cys430Gly)

SNV
Germline

Chr19:35309930

Pathogenic

Hereditary spastic paraplegia 75

No Assertion Criteria Provided

CA210989

rs_587777229

1 SubmittersRCV000106310

NM_007347.5(AP4E1):c.613C>A (p.His205Asn)

SNV
Germline

Chr15:50929079

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Stuttering, familial persistent, 1
Hereditary spastic paraplegia 51
Hereditary spastic paraplegia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA230885

rs_148499164

9 SubmittersRCV000116366 RCV000460419 RCV000763973 RCV001847663 RCV002514584 RCV005434635

NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)

SNV
Germline

Chr11:62690476

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Monogenic diabetes
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy
Neuronopathy, distal hereditary motor, type 5C

Criteria Provided
Conflicting Classifications

CA200862

rs_145649423

20 SubmittersRCV000116504 RCV000174173 RCV000300263 RCV000357438 RCV000664139 RCV001082147 RCV001847675 RCV002426660 RCV002498501

NM_002156.5(HSPD1):c.27C>G (p.Arg9=)

SNV
Germline

Chr2:197498822

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 13
Spastic paraplegia
Hereditary spastic paraplegia
HSPD1-related disorder

Criteria Provided
Conflicting Classifications

CA231170

rs_11551349

11 SubmittersRCV000117241 RCV000195296 RCV000295232 RCV001081749 RCV001847689 RCV003982887

NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)

SNV
Germline

Chr2:240747320

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA153360

rs_116297894

11 SubmittersRCV000117395 RCV000712145 RCV000760168 RCV001083185 RCV001847697 RCV002312170

NM_001244008.2(KIF1A):c.3202+10C>A

SNV
Germline

Chr2:240746029

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA231214

rs_190997558

7 SubmittersRCV000117404 RCV000517588 RCV001084551 RCV001136885

NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)

SNV
Germline

Chr2:240721033

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA153383

rs_371737085

11 SubmittersRCV000117405 RCV000712150 RCV001087763 RCV001136787 RCV002313903

NM_002693.3(POLG):c.264C>T (p.Phe88=)

SNV
Germline

Chr15:89333491

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA288984

rs_144439703

18 SubmittersRCV000118014 RCV000227341 RCV000436920 RCV001116623 RCV001847711 RCV002313915

NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)

SNV
Germline

Chr15:89319073

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
EEG abnormality
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
Early-onset Parkinson disease 20
Inborn genetic diseases
not specified
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA231404

rs_150233690

17 SubmittersRCV000118016 RCV000234341 RCV000515366 RCV000678829 RCV002243762 RCV001847713 RCV002272131 RCV002316314 RCV003330442 RCV006439642

NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)

SNV
Germline

Chr15:44598705

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA155280

rs_76389165

15 SubmittersRCV000118405 RCV000233929 RCV000514902 RCV000515991

NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)

SNV
Germline

Chr15:44572768

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA231526

rs_150761878

13 SubmittersRCV000118406 RCV000461243 RCV000609000 RCV001847726 RCV002362748 RCV003915170

NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)

SNV
Germline

Chr1:109629487

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Hereditary spastic paraplegia 63
Pontoneocerebellar hypoplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA156218

rs_587777395

6 SubmittersRCV000119282 RCV002515805 RCV003343648 RCV005431474

NM_021830.5(TWNK):c.639C>T (p.Gly213=)

SNV
Germline

Chr10:100988849

Conflicting classifications of pathogenicity

not specified
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA302706

rs_11542130

8 SubmittersRCV000173516 RCV000305599 RCV000301625 RCV000359159 RCV000395926 RCV000676300 RCV001847741

NM_152269.5(MTRFR):c.243C>T (p.Cys81=)

SNV
Germline

Chr12:123253917

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA289763

rs_140411575

5 SubmittersRCV000124048 RCV000513045 RCV001088353 RCV001113855 RCV001847743

NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)

SNV
Germline

Chr12:123256943

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 7
Hereditary spastic paraplegia
MTRFR-related disorder

Criteria Provided
Conflicting Classifications

CA289765

rs_147328685

7 SubmittersRCV000124049 RCV000513336 RCV001081513 RCV001113859 RCV001847744 RCV003965041

NM_002693.3(POLG):c.2028G>A (p.Ala676=)

SNV
Germline

Chr15:89324149

Conflicting classifications of pathogenicity

not specified
POLG-related disorder
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292825

rs_373550219

9 SubmittersRCV000127516 RCV000263177 RCV000457002 RCV000710184 RCV001847749 RCV002415616

NM_002693.3(POLG):c.2481-7C>T

SNV
Germline

Chr15:89321860

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Tip-toe gait
Hereditary spastic paraplegia
Paediatric disorders
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292830

rs_2307448

17 SubmittersRCV000212876 RCV000474664 RCV000676323 RCV001327991 RCV001847750 RCV006742284 RCV006439658

NM_002693.3(POLG):c.2853C>T (p.Tyr951=)

SNV
Germline

Chr15:89320894

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232559

rs_41546712

13 SubmittersRCV000186650 RCV000471041 RCV000712796 RCV001116417 RCV001847751 RCV002316396

NM_002693.3(POLG):c.87C>T (p.Ser29=)

SNV
Germline

Chr15:89333668

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
POLG-related disorder
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292838

rs_587781116

9 SubmittersRCV000127532 RCV000861520 RCV001116626 RCV001288358 RCV001847752 RCV002371969

NM_002693.3(POLG):c.3482+6C>T

SNV
Germline

Chr15:89318535

Conflicting classifications of pathogenicity

not specified
POLG-related disorder
Progressive sclerosing poliodystrophy
Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA292847

rs_55779802

10 SubmittersRCV000127539 RCV000316461 RCV000559092 RCV000726414 RCV000768049 RCV001847754 RCV003441747

NM_002693.3(POLG):c.3564C>T (p.Cys1188=)

SNV
Germline

Chr15:89317455

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292854

rs_146584956

5 SubmittersRCV000127546 RCV000547592 RCV001847755 RCV003311689

NM_002693.3(POLG):c.1275C>T (p.Ala425=)

SNV
Germline

Chr15:89327325

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292871

rs_147404477

12 SubmittersRCV000127559 RCV000558064 RCV000725687 RCV001847757 RCV002371970 RCV006439659

NM_002693.3(POLG):c.1386G>A (p.Ser462=)

SNV
Germline

Chr15:89327214

Conflicting classifications of pathogenicity

not specified
POLG-related disorder
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA292873

rs_62640034

7 SubmittersRCV000127560 RCV000402563 RCV000758496 RCV000725999 RCV001847758

NM_003119.4(SPG7):c.1032C>T (p.Gly344=)

SNV
Germline

Chr16:89531948

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA293664

rs_116319889

7 SubmittersRCV000128200 RCV000416207 RCV001081406 RCV001847760

NM_003119.4(SPG7):c.1324+10C>T

SNV
Germline

Chr16:89532646

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA293666

rs_202070075

7 SubmittersRCV000128201 RCV000713480 RCV001085222 RCV001847761

NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)

SNV
Germline

Chr16:89546665

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA345675

rs_111475461

11 SubmittersRCV000128202 RCV000585517 RCV000989665 RCV001847762

NM_003119.4(SPG7):c.1664-11C>A

SNV
Germline

Chr16:89550483

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA293669

rs_574656941

3 SubmittersRCV000128205 RCV001121647

NM_152269.5(MTRFR):c.282+2T>A

SNV
Germline

Chr12:123253958

Pathogenic

Hereditary spastic paraplegia 55

No Assertion Criteria Provided

CA170632

rs_587777668

1 SubmittersRCV000133581

NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)

SNV
Germline

Chr9:132264633

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA233108

rs_151117904

16 SubmittersRCV000143819 RCV000251546 RCV000302102 RCV000393538 RCV001080640 RCV001260210 RCV001847770

NM_006070.6(TFG):c.806G>T (p.Gly269Val)

SNV
Germline

Chr3:100744917

Pathogenic/Likely pathogenic

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57

No Assertion Criteria Provided

CA170881

rs_587777789

2 SubmittersRCV000144505 RCV004767089

NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys)

SNV
Germline

Chr19:7558861

Likely pathogenic

Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA170918

rs_587777854

2 SubmittersRCV000144695 RCV003114288

NM_015915.5(ATL1):c.353G>A (p.Arg118Gln)

SNV
Germline

Chr14:50591011

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA233267

rs_606231265

2 SubmittersRCV000144894 RCV002514782

NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)

SNV
Germline

Chr1:113901276

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Condition: not provided
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA345963

rs_376478015

7 SubmittersRCV000145022 RCV001797056 RCV001849319 RCV002514784

NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)

SNV
Germline

ChrX:153865714

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Inborn genetic diseases
Spastic paraplegia
X-linked hydrocephalus syndrome

Criteria Provided
Conflicting Classifications

CA172446

rs_149737236

5 SubmittersRCV000431818 RCV001847778 RCV002453468 RCV002515965 RCV006270224

NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)

SNV
Germline

ChrX:74525834

Pathogenic/Likely pathogenic

Allan-Herndon-Dudley syndrome
Condition: not provided
Inborn genetic diseases
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA272490

rs_587784384

7 SubmittersRCV000147494 RCV000224827 RCV000624288 RCV001226584 RCV001847780

NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)

SNV
Germline

Chr2:240775863

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA212636

rs_672601370

17 SubmittersRCV000149482 RCV000374842 RCV000624110 RCV000850514 RCV001197350 RCV001334240 RCV001847781

NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys)

SNV
Germline

Chr2:240783780

Pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder
Early-infantile developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA212633

rs_672601369

10 SubmittersRCV000149481 RCV000488961 RCV000850486 RCV001813759 RCV005862999 RCV006697865

NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)

SNV
Germline

Chr2:240785066

Pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA212627

rs_672601367

6 SubmittersRCV000149479 RCV001090762 RCV003998180

NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)

SNV
Germline

Chr2:240786444

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Spastic paraplegia 30A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA212621

rs_672601365

6 SubmittersRCV000149477 RCV001391597 RCV001268733 RCV001323710 RCV006699213

NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)

SNV
Germline

Chr2:240789246

Pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Neurodevelopmental delay
Condition: not provided
Spastic paraplegia 30A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA212612

rs_672601362

10 SubmittersRCV000149474 RCV000987077 RCV001267147 RCV001386834 RCV002273964 RCV002509246 RCV006704572

NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)

SNV
Germline

Chr12:57567598

Pathogenic

Hereditary spastic paraplegia 10

No Assertion Criteria Provided

CA174974

rs_690016545

1 SubmittersRCV000149510

NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)

SNV
Germline

ChrX:74531529

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA234943

rs_199904356

7 SubmittersRCV000153955 RCV000723786 RCV001080009 RCV001847786 RCV002316973

NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln)

SNV
Germline

Chr1:109628692

Conflicting classifications of pathogenicity

Global developmental delay
Brain malformation
Seizure
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9

Criteria Provided
Conflicting Classifications

CA249914

rs_192669225

2 SubmittersRCV000162110 RCV002515123 RCV003984820

NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)

SNV
Germline

Chr7:100105981

Pathogenic

CNS hypomyelination
Brain atrophy
Microcephaly
Hypoplasia of the corpus callosum
Global developmental delay
Hereditary spastic paraplegia 50
Condition: not provided
Spastic paraplegia
AP4M1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA249973

rs_730882249

10 SubmittersRCV000162190 RCV000191923 RCV001529845 RCV001849324 RCV003390861

NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg)

SNV
Germline

Chr19:29708290

Conflicting classifications of pathogenicity

Iron accumulation in brain
Neurodegeneration
Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 4

Criteria Provided
Conflicting Classifications

CA186055

rs_200133991

7 SubmittersRCV000162119 RCV000292174 RCV000516097 RCV001231447 RCV003479030 RCV006741235

NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser)

SNV
Germline

Chr19:7558948

Likely pathogenic

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hereditary spastic paraplegia 39
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA186150

rs_142422525

4 SubmittersRCV000162353 RCV001242294 RCV001268592 RCV004815256

NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)

SNV
Germline

Chr19:7556710

Pathogenic

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Condition: not provided
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Multiple Submitters
No Conflicts

CA186152

rs_786201037

4 SubmittersRCV000162354 RCV001092940 RCV001559129 RCV002515124

NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)

SNV
Germline

Chr2:240788208

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA346824

rs_786200949

6 SubmittersRCV000167867 RCV000693147 RCV000762334 RCV001078152

NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser)

SNV
Germline

Chr2:197493399

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 13

Criteria Provided
Conflicting Classifications

CA334242

rs_149003485

2 SubmittersRCV000168086 RCV001140948

NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)

SNV
Germline

Chr2:32127014

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA334274

rs_786204132

2 SubmittersRCV000168104

NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)

SNV
Germline

Chr2:32136608

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA334245

rs_786204126

13 SubmittersRCV000168087 RCV000579036 RCV001847790

NM_014946.4(SPAST):c.1414-1G>C

SNV
Germline

Chr2:32137108

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA334385

rs_786204163

2 SubmittersRCV000168164

NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu)

SNV
Germline

Chr2:32144957

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA333996

rs_786204057

1 SubmittersRCV000167918

NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter)

SNV
Germline

Chr2:86251959

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA334086

rs_786204081

1 SubmittersRCV000167976

NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)

SNV
Germline

Chr14:67754144

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 15
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA334653

rs_151166497

7 SubmittersRCV000168361 RCV000421762 RCV000660475 RCV001079938 RCV001847797

NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)

SNV
Germline

Chr14:67767816

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA334145

rs_34952009

7 SubmittersRCV000168014 RCV000437692 RCV001082302 RCV001118126 RCV001847789

NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)

SNV
Germline

Chr14:67789467

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA334610

rs_116890187

10 SubmittersRCV000435814 RCV000439576 RCV001082969 RCV001115192 RCV001847795

NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)

SNV
Germline

Chr14:67805304

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
not specified
Spastic paraplegia
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA334758

rs_35512910

8 SubmittersRCV000279394 RCV000512998 RCV000517033 RCV001082592 RCV001847798 RCV003927560

NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)

SNV
Germline

Chr15:44564629

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA334634

rs_139334167

11 SubmittersRCV000710226 RCV001083164 RCV001847796 RCV002362862 RCV003917575 RCV005437973

NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)

SNV
Germline

Chr15:44572802

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA208997

rs_140824939

17 SubmittersRCV000168174 RCV000194672 RCV000512885 RCV001847791 RCV002362861 RCV003917574

NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)

SNV
Germline

Chr15:44615524

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA235929

rs_786204176

3 SubmittersRCV000168213 RCV000171235

NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)

SNV
Germline

Chr16:89550502

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Mitochondrial disease
Hereditary spastic paraplegia
Inborn genetic diseases
SPG7-related disorder
Hereditary ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA334497

rs_369227537

17 SubmittersRCV000168257 RCV000413970 RCV000508922 RCV001847793 RCV002515187 RCV003416049 RCV005625350

NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys)

SNV
Germline

Chr19:49692361

Pathogenic

Hereditary spastic paraplegia 73

No Assertion Criteria Provided

CA199135

rs_786204767

1 SubmittersRCV000169633

NM_015915.5(ATL1):c.988A>T (p.Lys330Ter)

SNV
Germline

Chr14:50620724

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA235905

rs_786205487

1 SubmittersRCV000171222 RCV003987402

NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)

SNV
Germline

Chr2:240788191

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA236139

rs_778224699

9 SubmittersRCV000171342 RCV000639785 RCV000626085 RCV001391594 RCV004737262 RCV004782279

NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr)

SNV
Germline

Chr8:125059395

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA236317

rs_749056160

2 SubmittersRCV000171420 RCV001158802

NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)

SNV
Germline

Chr9:35737405

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 46

Criteria Provided
Conflicting Classifications

CA236323

rs_752274637

2 SubmittersRCV000171423 RCV003133160

NM_000533.5(PLP1):c.650G>A (p.Gly217Asp)

SNV
Germline

ChrX:103788464

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA236360

rs_786205605

1 SubmittersRCV000171442 RCV003984826

NM_003119.4(SPG7):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:89508418

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
SPG7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274907

rs_794726906

8 SubmittersRCV000173302 RCV001852108 RCV003416067

NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)

SNV
Germline

Chr13:23339800

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA208864

rs_146451611

15 SubmittersRCV000194599 RCV000515329 RCV000710206 RCV001082339 RCV001847803 RCV003937553

NM_014363.6(SACS):c.13717A>C (p.Asn4573His)

SNV
Germline

Chr13:23330159

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA239310

rs_34382952

17 SubmittersRCV000254363 RCV000488235 RCV000515968 RCV000674768 RCV001082378

NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)

SNV
Germline

Chr14:67798195

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA200844

rs_141880939

7 SubmittersRCV000174133 RCV000710227 RCV001119875 RCV001083591

NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)

SNV
Germline

Chr11:62690389

Conflicting classifications of pathogenicity

Monogenic diabetes
Condition: not provided
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Inborn genetic diseases
Congenital generalized lipodystrophy type 2

Criteria Provided
Conflicting Classifications

CA239675

rs_149466797

10 SubmittersRCV000445495 RCV000724332 RCV001086117 RCV001847805 RCV002326952 RCV003884374

NM_015915.5(ATL1):c.1200G>A (p.Lys400=)

SNV
Germline

Chr14:50628111

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA239909

rs_144792471

5 SubmittersRCV000724714 RCV001081632 RCV002345600 RCV006439695

NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)

SNV
Germline

Chr15:44615364

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Condition: not provided
Hereditary spastic paraplegia
Melanoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Thyroid cancer, nonmedullary, 1
Acute myeloid leukemia
Clear cell carcinoma of kidney
Gastric cancer
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA201295

rs_111347025

16 SubmittersRCV000175101 RCV000204165 RCV001260215 RCV002262769 RCV001847810 RCV005889809 RCV005889802 RCV005889803 RCV005889804 RCV005889808 RCV005889801 RCV005889805 RCV005889806 RCV005889807

NM_002693.3(POLG):c.32G>A (p.Gly11Asp)

SNV
Germline

Chr15:89333723

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
6 conditions
POLG-related disorder
Intellectual disability
Inborn genetic diseases
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA302812

rs_765472726

17 SubmittersRCV000633544 RCV000724132 RCV000763999 RCV001116627 RCV001252351 RCV002453618 RCV001847811 RCV004526626

NM_003119.4(SPG7):c.234G>T (p.Leu78Phe)

SNV
Germline

Chr16:89510540

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA241505

rs_770487062

4 SubmittersRCV000175748 RCV002056943 RCV005492795

NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)

SNV
Germline

Chr2:240745853

Conflicting classifications of pathogenicity

not specified
Condition: not provided
History of neurodevelopmental disorder
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA202153

rs_143037290

17 SubmittersRCV000176875 RCV000415745 RCV000715995 RCV000987072 RCV001084426 RCV001847816

NM_002693.3(POLG):c.803G>C (p.Gly268Ala)

SNV
Germline

Chr15:89330133

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder
Hereditary spastic paraplegia
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2U
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA202319

rs_61752784

22 SubmittersRCV000177165 RCV000233823 RCV000415771 RCV000768291 RCV001121511 RCV001847817 RCV002312719 RCV002516726 RCV002227084

NM_002693.3(POLG):c.1174C>G (p.Leu392Val)

SNV
Germline

Chr15:89328532

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
6 conditions
Condition: not provided
POLG-related disorder
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246660

rs_145289229

15 SubmittersRCV000188651 RCV000475753 RCV000515415 RCV000710181 RCV001119511 RCV001847818 RCV002317054

NM_015915.5(ATL1):c.631-7T>A

SNV
Germline

Chr14:50613252

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A
ATL1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA247289

rs_186528086

5 SubmittersRCV000724713 RCV001081633 RCV003947533 RCV006439713

NM_003119.4(SPG7):c.1083G>A (p.Ala361=)

SNV
Germline

Chr16:89531999

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Conflicting Classifications

CA247608

rs_114135540

9 SubmittersRCV000195569 RCV000724712 RCV001085115 RCV001847819 RCV003937635

NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)

SNV
Germline

Chr11:62690840

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248240

rs_144245125

10 SubmittersRCV000657059 RCV001001623 RCV001087807 RCV001847821 RCV002444724

NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)

SNV
Germline

Chr15:44651677

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA275497

rs_141596008

7 SubmittersRCV000185539 RCV001508762 RCV001847822 RCV002467649 RCV002467650 RCV002372141

NM_001010867.4(IBA57):c.678A>G (p.Gln226=)

SNV
Germline

Chr1:228175028

Pathogenic

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10575730

rs_876657407

4 SubmittersRCV000185609 RCV004767125

NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)

SNV
Germline

Chr15:89317433

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA316786

rs_765344513

5 SubmittersRCV000188628 RCV000758333 RCV001847833 RCV005431539

NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)

SNV
Germline

Chr15:89317460

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316784

rs_369544574

10 SubmittersRCV000188627 RCV000633564 RCV000712805 RCV001847832 RCV002453696 RCV006439745

NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)

SNV
Germline

Chr15:89320857

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Spinocerebellar atrophy
Hereditary spastic paraplegia
not specified
Inborn genetic diseases
MELAS syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
6 conditions
Mitochondrial disease
POLG-related disorder
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Conflicting Classifications

CA316719

rs_201477273

26 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001847830 RCV002247604 RCV002317145 RCV003232987 RCV003992217 RCV004796080 RCV006249368 RCV005361099 RCV006249604 RCV006439738 RCV006635933 RCV006704610

NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)

SNV
Germline

Chr15:89321780

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
Intellectual disability
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder
Autosomal recessive POLG-related disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA316701

rs_144500145

18 SubmittersRCV000188581 RCV000633537 RCV000762953 RCV001252349 RCV001847829 RCV002517007 RCV004526636 RCV006694772 RCV006741239

NM_002693.3(POLG):c.1808T>C (p.Met603Thr)

SNV
Germline

Chr15:89325591

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA316846

rs_367610201

6 SubmittersRCV000188667 RCV001348402 RCV001814096 RCV001847837 RCV003226244

NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)

SNV
Germline

Chr15:89327198

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Lennox-Gastaut syndrome
6 conditions
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Hereditary spastic paraplegia
Inborn genetic diseases
not specified
Mitochondrial disease
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA316834

rs_145843073

25 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001004603 RCV001027840 RCV001117972 RCV001330959 RCV001847836 RCV002314743 RCV003230444 RCV004786516 RCV004799199

NM_002693.3(POLG):c.830A>T (p.His277Leu)

SNV
Germline

Chr15:89330106

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
Tip-toe gait
Inborn genetic diseases
not specified
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
6 conditions
Sarcoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA316810

rs_138929605

20 SubmittersRCV000188643 RCV000231645 RCV000616176 RCV001004406 RCV001847834 RCV002226693 RCV002514036 RCV003235111 RCV005008116 RCV005396564 RCV005892195 RCV005892196

NM_002693.3(POLG):c.125G>A (p.Arg42Gln)

SNV
Germline

Chr15:89333630

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316606

rs_74382477

5 SubmittersRCV000545670 RCV000676334 RCV001847824 RCV006439727

NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)

SNV
Germline

Chr2:240785063

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
PEHO syndrome
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Syndromic intellectual disability
Inborn genetic diseases
Spastic paraplegia 30A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA204974

rs_797045164

13 SubmittersRCV000191020 RCV000207243 RCV001255726 RCV001269905 RCV001389787 RCV001796966 RCV002514079 RCV006270228

NM_015915.5(ATL1):c.596T>A (p.Leu199Gln)

SNV
Germline

Chr14:50595598

Pathogenic

Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

CA275969

rs_797045004

1 SubmittersRCV000190502

NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)

SNV
Germline

Chr2:240741350

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA204602

rs_374873057

10 SubmittersRCV000190656 RCV000504400 RCV000639825 RCV001252530 RCV001545198 RCV001847846

NM_014946.4(SPAST):c.1168A>G (p.Met390Val)

SNV
Germline

Chr2:32127017

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204591

rs_797044850

5 SubmittersRCV000190649 RCV000206286 RCV000478313

NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)

SNV
Germline

Chr16:74726273

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia
Hereditary spastic paraplegia 35
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204774

rs_765086319

5 SubmittersRCV000190745 RCV001847847 RCV002470808 RCV004998400

NM_001244008.2(KIF1A):c.38G>A (p.Arg13His)

SNV
Germline

Chr2:240797715

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA250361

rs_797045050

7 SubmittersRCV000191098 RCV000235418 RCV000639795 RCV004786519 RCV004767129

NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)

SNV
Germline

Chr14:67782971

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250411

rs_370828455

7 SubmittersRCV000191149 RCV000633029 RCV001847849 RCV004791315

NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)

SNV
Germline

Chr17:5022180

Conflicting classifications of pathogenicity

Spastic ataxia 2
Condition: not provided
Hereditary spastic paraplegia
KIF1C-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA250364

rs_148934699

10 SubmittersRCV000191099 RCV000415815 RCV001847848 RCV003917729 RCV006439756

NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)

SNV
Germline

Chr17:5023573

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA250366

rs_202232792

7 SubmittersRCV000191100 RCV000516061 RCV000859538 RCV003917730

NM_000533.5(PLP1):c.1A>G (p.Met1Val)

SNV
Germline

ChrX:103776996

Pathogenic

Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA276159

rs_797045064

2 SubmittersRCV000191119 RCV001857679

NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)

SNV
Germline

Chr7:100106278

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 50
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346965

rs_146262009

8 SubmittersRCV000191922 RCV001849336 RCV003227707

NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)

SNV
Germline

Chr1:109628244

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205620

rs_114727970

4 SubmittersRCV000192657 RCV000548443 RCV001725137

NM_001253852.3(AP4B1):c.114-10C>T

SNV
Germline

Chr1:113902872

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA209729

rs_200301524

2 SubmittersRCV000195118 RCV002517046

NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=)

SNV
Germline

Chr2:240718061

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209750

rs_745898229

3 SubmittersRCV000195127 RCV001406543 RCV002336512

NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)

SNV
Germline

Chr2:240719177

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207711

rs_143815273

8 SubmittersRCV000193912 RCV000393106 RCV000871380 RCV001721255 RCV001847865 RCV002317696

NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)

SNV
Germline

Chr2:240719868

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209849

rs_200141437

12 SubmittersRCV000195190 RCV000513801 RCV000538003 RCV000764392 RCV001262253 RCV002517091

NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)

SNV
Germline

Chr2:240721001

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205958

rs_201825284

6 SubmittersRCV000192849 RCV000766570 RCV001088066 RCV001847864 RCV004020320

NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)

SNV
Germline

Chr2:240722483

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA208952

rs_771217469

6 SubmittersRCV000194644 RCV001434490 RCV001847863 RCV002327027 RCV006450056 RCV004737300

NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)

SNV
Germline

Chr2:240722517

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Condition: not provided
Intellectual disability, autosomal dominant 9
History of neurodevelopmental disorder
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA207477

rs_141441058

14 SubmittersRCV000193768 RCV000399209 RCV000430886 RCV000625875 RCV000717282 RCV001084017 RCV001847862 RCV004530127

NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)

SNV
Germline

Chr2:240722536

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA206106

rs_572923181

5 SubmittersRCV000192942 RCV001231462 RCV003133168 RCV004786520

NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met)

SNV
Germline

Chr2:240740061

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209076

rs_797045652

3 SubmittersRCV000194715 RCV001062486 RCV002317694

NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)

SNV
Germline

Chr2:240744058

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA206971

rs_201981364

4 SubmittersRCV000193462 RCV000639842 RCV001087528

NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)

SNV
Germline

Chr2:240745767

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA205590

rs_370286749

17 SubmittersRCV000192638 RCV000727207 RCV001081600 RCV001136883 RCV001847861 RCV002314827 RCV004530126

NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)

SNV
Germline

Chr2:240745866

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206964

rs_368682964

12 SubmittersRCV000193457 RCV000280816 RCV000560060 RCV001082394 RCV001847860 RCV002433868

NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)

SNV
Germline

Chr2:240750448

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208542

rs_186881889

12 SubmittersRCV000194398 RCV000639833 RCV001139124 RCV001699152 RCV001847859 RCV002314826

NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)

SNV
Germline

Chr2:240750508

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206457

rs_140783695

10 SubmittersRCV000193158 RCV000386218 RCV000532199 RCV001532442 RCV001847858 RCV002317693

NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)

SNV
Germline

Chr2:240758410

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA209428

rs_370648599

3 SubmittersRCV000194936 RCV000940273 RCV001847857

NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)

SNV
Germline

Chr2:240758467

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208640

rs_199996308

9 SubmittersRCV000194459 RCV000339569 RCV000539758 RCV001847856 RCV002317692 RCV003430743

NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)

SNV
Germline

Chr2:240761362

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Intellectual disability
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
KIF1A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206597

rs_774604596

8 SubmittersRCV000193245 RCV000624865 RCV001252529 RCV001838988 RCV001852557 RCV004530125 RCV003133167

NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met)

SNV
Germline

Chr2:240763253

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA209684

rs_760338913

6 SubmittersRCV000195093 RCV000766476 RCV000799188 RCV006701231

NM_001244008.2(KIF1A):c.883-3C>T

SNV
Germline

Chr2:240775929

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA208265

rs_111507743

6 SubmittersRCV000194229 RCV000267842 RCV000542527 RCV000997713

NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)

SNV
Germline

Chr2:240783059

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206824

rs_187442951

8 SubmittersRCV000193375 RCV000328663 RCV000554087 RCV001556672 RCV001847867 RCV002314828

NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)

SNV
Germline

Chr2:240783087

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA209610

rs_797045655

9 SubmittersRCV000195049 RCV000236782 RCV000818660 RCV001391603 RCV001847866

NM_014946.4(SPAST):c.1735A>C (p.Asn579His)

SNV
Germline

Chr2:32154380

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 4
Condition: not provided
Spastic paraplegia
Spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA207191

rs_144594804

11 SubmittersRCV000193599 RCV000509114 RCV000658865 RCV001391562 RCV001640291 RCV001847874

NM_004722.4(AP4M1):c.189C>T (p.Gly63=)

SNV
Germline

Chr7:100102716

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50

Criteria Provided
Conflicting Classifications

CA207714

rs_367614875

2 SubmittersRCV000193913 RCV005089971

NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)

SNV
Germline

Chr7:100102942

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 50
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA209697

rs_138437966

7 SubmittersRCV000195099 RCV000766902 RCV001087871 RCV003927759

NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)

SNV
Germline

Chr7:100105984

Pathogenic/Likely pathogenic

not specified
Hereditary spastic paraplegia 50
Spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA206534

rs_754498075

7 SubmittersRCV000193207 RCV001040211 RCV001849338 RCV005372257 RCV005647983

NM_004722.4(AP4M1):c.1128C>T (p.Gly376=)

SNV
Germline

Chr7:100106505

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50

Criteria Provided
Conflicting Classifications

CA209312

rs_372787797

2 SubmittersRCV000194861 RCV001857686

NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)

SNV
Germline

Chr7:100106862

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50
Condition: not provided
Hereditary spastic paraplegia
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA206016

rs_147738731

6 SubmittersRCV000192888 RCV000860999 RCV001507706 RCV001847852 RCV003895240

NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)

SNV
Germline

Chr7:4788844

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA205539

rs_372517211

3 SubmittersRCV000192608 RCV001087595

NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)

SNV
Germline

Chr11:62691116

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Monogenic diabetes
Severe neurodegenerative syndrome with lipodystrophy
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C

Criteria Provided
Conflicting Classifications

CA205518

rs_140676897

8 SubmittersRCV000192598 RCV000766869 RCV001083233 RCV001174400 RCV002467651 RCV002433863 RCV003884385 RCV005049470

NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)

SNV
Germline

Chr13:23332894

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA207002

rs_36061856

11 SubmittersRCV000193480 RCV000230933 RCV000278445 RCV001079338 RCV001847870

NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)

SNV
Germline

Chr13:23335483

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA277355

rs_140551762

19 SubmittersRCV000194652 RCV000230214 RCV000513770 RCV001815246 RCV001847873

NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)

SNV
Germline

Chr13:23340449

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207090

rs_144267558

13 SubmittersRCV000193535 RCV000338267 RCV000470007 RCV001083422 RCV001847871 RCV003907705 RCV004020340

NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)

SNV
Germline

Chr14:67782955

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 15
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA206139

rs_35018134

8 SubmittersRCV000192964 RCV000263238 RCV000713435 RCV001085598 RCV001847876

NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)

SNV
Germline

Chr2:86217050

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA322595

rs_189652973

8 SubmittersRCV000415754 RCV000986787 RCV003165456 RCV005055711

NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser)

SNV
Germline

Chr2:86232673

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA323435

rs_768890728

2 SubmittersRCV001228818 RCV002345708

NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)

SNV
Germline

Chr6:5613185

Pathogenic/Likely pathogenic

Condition: not provided
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
Inborn genetic diseases
See cases
FARS2-related disorder
Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14

Criteria Provided
Multiple Submitters
No Conflicts

CA325392

rs_751459058

16 SubmittersRCV000200808 RCV000525331 RCV000578164 RCV000622524 RCV003156085 RCV004751360 RCV005396583

NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)

SNV
Germline

Chr6:5771328

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14

Criteria Provided
Multiple Submitters
No Conflicts

CA321645

rs_775690041

4 SubmittersRCV000197201 RCV000578139 RCV001378476

NM_021830.5(TWNK):c.2045G>A (p.Arg682His)

SNV
Germline

Chr10:100993500

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia
TWNK-related disorder

Criteria Provided
Conflicting Classifications

CA323951

rs_182559752

7 SubmittersRCV000338208 RCV000374204 RCV000283282 RCV000377740 RCV000871398 RCV001847877 RCV004530167

NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)

SNV
Germline

Chr16:89508421

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA321845

rs_535030441

10 SubmittersRCV000817246 RCV001722098 RCV001847886 RCV002515437 RCV005237700

NM_003119.4(SPG7):c.199C>T (p.Leu67=)

SNV
Germline

Chr16:89510505

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA322268

rs_148315471

8 SubmittersRCV000197807 RCV000860664 RCV001815248 RCV001847883

NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)

SNV
Germline

Chr16:89510526

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA323300

rs_114854791

6 SubmittersRCV000198775 RCV000765319 RCV001847887 RCV003993885

NM_003119.4(SPG7):c.403G>A (p.Asp135Asn)

SNV
Germline

Chr16:89524032

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA322399

rs_767820132

2 SubmittersRCV000197933 RCV001853199

NM_003119.4(SPG7):c.524T>C (p.Leu175Pro)

SNV
Germline

Chr16:89524153

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA321922

rs_149797758

2 SubmittersRCV000197458 RCV006685049

NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)

SNV
Germline

Chr16:89532579

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

CA324322

rs_201543030

6 SubmittersRCV000713479 RCV000804015 RCV003488456

NM_003119.4(SPG7):c.1653C>T (p.Arg551=)

SNV
Germline

Chr16:89548103

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336170

rs_56031686

9 SubmittersRCV000196125 RCV001088894 RCV001847884 RCV003221854

NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)

SNV
Germline

Chr16:89550505

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA322772

rs_372981030

5 SubmittersRCV000198266 RCV000697812 RCV001847888

NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp)

SNV
Germline

Chr16:89550557

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA322015

rs_151249432

6 SubmittersRCV000197553 RCV001233181 RCV001847891

NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr)

SNV
Germline

Chr16:89553108

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
SPG7-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA322713

rs_549735647

5 SubmittersRCV000867765 RCV003955198 RCV004808627

NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)

SNV
Germline

Chr16:89553132

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA325352

rs_2099104

8 SubmittersRCV000487696 RCV000515879 RCV000640979 RCV004816333

NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)

SNV
Germline

Chr16:89554486

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
SPG7-related disorder

Criteria Provided
Conflicting Classifications

CA324687

rs_752257333

3 SubmittersRCV000200130 RCV002515440 RCV003417715

NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)

SNV
Germline

Chr16:89556933

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
Spastic ataxia
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA323349

rs_752623413

23 SubmittersRCV000198819 RCV000500664 RCV001640295 RCV001847889 RCV003401074

NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)

SNV
Germline

Chr16:89556980

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA325312

rs_140769107

11 SubmittersRCV000227318 RCV000766856 RCV001847890

NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr2:32137112

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA337296

rs_757130394

2 SubmittersRCV000197545

NM_015915.5(ATL1):c.300T>G (p.Val100=)

SNV
Germline

Chr14:50590958

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA338991

rs_863224772

3 SubmittersRCV000199958 RCV002433889

NM_015346.4(ZFYVE26):c.7417-5G>C

SNV
Germline

Chr14:67748644

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA335934

rs_201771769

7 SubmittersRCV000195780 RCV000280192 RCV000614268 RCV001083657 RCV001847894

NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)

SNV
Germline

Chr14:67762745

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA338151

rs_139163400

10 SubmittersRCV000198741 RCV000343187 RCV001116681 RCV001705152 RCV001847897 RCV003937753

NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)

SNV
Germline

Chr14:67778189

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA338345

rs_200243306

8 SubmittersRCV000199016 RCV001116781 RCV001531198 RCV001847893

NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)

SNV
Germline

Chr14:67782828

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Condition: not provided
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA337036

rs_534497092

5 SubmittersRCV000197212 RCV000298542 RCV001847896 RCV003401078 RCV003917810

NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)

SNV
Germline

Chr15:44564566

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Intellectual disability
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA337736

rs_150571352

9 SubmittersRCV000198221 RCV000609376 RCV001252105 RCV001331387 RCV001847903 RCV002363018 RCV004696869 RCV005008134

NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter)

SNV
Germline

Chr15:44564583

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA336254

rs_762984907

2 SubmittersRCV000196229 RCV004791320

NM_025137.4(SPG11):c.3146-6T>G

SNV
Germline

Chr15:44610991

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336234

rs_777849932

3 SubmittersRCV000196201 RCV003137783

NM_025137.4(SPG11):c.2887A>C (p.Arg963=)

SNV
Germline

Chr15:44615514

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339114

rs_150689014

9 SubmittersRCV000200120 RCV000516986 RCV001847899 RCV002433886 RCV003884398

NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)

SNV
Germline

Chr15:44663632

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA337596

rs_200573434

11 SubmittersRCV000713414 RCV001086819 RCV001260214 RCV001336692 RCV001847902 RCV002399751 RCV003917821 RCV006439776

NM_016630.7(SPG21):c.846G>A (p.Ala282=)

SNV
Germline

Chr15:64963701

Conflicting classifications of pathogenicity

Mast syndrome
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338450

rs_146986015

6 SubmittersRCV000199178 RCV000518621 RCV001847898 RCV003389761

NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)

SNV
Germline

Chr16:89544731

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA336544

rs_748555510

3 SubmittersRCV000196592

NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg)

SNV
Germline

Chr16:89553853

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339302

rs_752989523

4 SubmittersRCV000200425 RCV001562435

NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)

SNV
Germline

Chr2:197487161

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA279046

rs_863224878

3 SubmittersRCV000200544 RCV002225501 RCV002517300

NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)

SNV
Germline

Chr2:32144945

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided
not specified
Inborn genetic diseases
Spastic diplegia

Criteria Provided
Conflicting Classifications

CA277520

rs_142053576

13 SubmittersRCV000199081 RCV000486146 RCV001193265 RCV004020479 RCV005638105

NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)

SNV
Germline

Chr2:32145005

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia
SPAST-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA278930

rs_863224923

11 SubmittersRCV000195806 RCV001091364 RCV001847904 RCV003401083

NM_014363.6(SACS):c.11624G>A (p.Arg3875His)

SNV
Germline

Chr13:23332252

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA351289

rs_863224916

5 SubmittersRCV001848018 RCV001843500 RCV002305471 RCV005238774

NM_024306.5(FA2H):c.517C>T (p.Pro173Ser)

SNV
Germline

Chr16:74726321

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA279015

rs_863224870

1 SubmittersRCV000199368

NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)

SNV
Germline

Chr16:89550559

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA277518

rs_72547552

3 SubmittersRCV000198892

NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)

SNV
Germline

Chr10:95633040

Likely pathogenic

Hereditary spastic paraplegia 9A
P5CS deficiency

Criteria Provided
Single Submitter

CA347465

rs_864321669

2 SubmittersRCV000200956 RCV003389243

NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)

SNV
Germline

Chr10:95633012

Pathogenic

Hereditary spastic paraplegia 9A
Condition: not provided
ALDH18A1 deficiency
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
P5CS deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA347466

rs_864321670

8 SubmittersRCV000200959 RCV000761744 RCV001095737 RCV003765292 RCV006645459

NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)

SNV
Germline

Chr10:95637381

Pathogenic

Hereditary spastic paraplegia 9A
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome

Criteria Provided
Single Submitter

CA279055

rs_863224945

2 SubmittersRCV000200954 RCV003765293

NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)

SNV
Germline

Chr10:95611372

Pathogenic

Hereditary spastic paraplegia 9A

No Assertion Criteria Provided

CA280923

rs_766264810

1 SubmittersRCV000200958

NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)

SNV
Germline

Chr10:95637328

Pathogenic

Cutis laxa, autosomal dominant 3
Condition: not provided
Cutis laxa, autosomal dominant 3
Hereditary spastic paraplegia 9A
ALDH18A1-related de Barsy syndrome
Autosomal recessive complex spastic paraplegia type 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA279130

rs_863225044

6 SubmittersRCV000201215 RCV000481980 RCV003883142

NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)

SNV
Germline

Chr10:95637327

Pathogenic

Cutis laxa, autosomal dominant 3
Condition: not provided
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3
de Barsy syndrome
ALDH18A1-related disorder
Hereditary spastic paraplegia 9A

Criteria Provided
Multiple Submitters
No Conflicts

CA279126

rs_863225045

5 SubmittersRCV000201213 RCV003236787 RCV003765295 RCV004530202 RCV004798805

NM_003119.4(SPG7):c.988-1G>A

SNV
Germline

Chr16:89531903

Pathogenic

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
SPG7-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339773

rs_748309520

8 SubmittersRCV000206709 RCV001847907 RCV003897433 RCV005230073

NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)

SNV
Germline

Chr16:89550545

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA8244370

rs_72547551

15 SubmittersRCV000235251 RCV000413737 RCV001847906 RCV005278535

NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)

SNV
Germline

Chr16:89553853

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10575796

rs_752989523

2 SubmittersRCV000236261 RCV001847908

NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)

SNV
Germline

Chr16:89556954

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10575797

rs_879253797

5 SubmittersRCV000236780 RCV001847905

NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr15:44659154

Pathogenic

Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA279893

rs_863225440

2 SubmittersRCV000202379 RCV000989303

NM_002361.4(MAG):c.399C>G (p.Ser133Arg)

SNV
Germline

Chr19:35295965

Pathogenic

Hereditary spastic paraplegia 75

No Assertion Criteria Provided

CA211166

rs_2301600

1 SubmittersRCV000202409

NM_001244008.2(KIF1A):c.2908C>T (p.Arg970Cys)

SNV
Germline

Chr2:240750498

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA249179

rs_864309570

4 SubmittersRCV000202975 RCV001236114 RCV002433897 RCV003324729

NM_004722.4(AP4M1):c.930G>A (p.Arg310=)

SNV
Germline

Chr7:100105959

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50
Hereditary spastic paraplegia
Condition: not provided
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA249229

rs_141754568

6 SubmittersRCV000203025 RCV000559361 RCV001847910 RCV002292486 RCV003927869

NM_014846.4(WASHC5):c.1007G>C (p.Arg336Thr)

SNV
Germline

Chr8:125073296

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248939

rs_150430170

5 SubmittersRCV000202751 RCV001439371 RCV002517353 RCV006277747

NM_014846.4(WASHC5):c.639G>C (p.Gln213His)

SNV
Germline

Chr8:125078810

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA249149

rs_141234822

8 SubmittersRCV000202950 RCV000767086 RCV001163829 RCV001490442 RCV001847913

NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)

SNV
Germline

Chr2:32141917

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA348315

rs_864622162

8 SubmittersRCV000204046 RCV000585136 RCV001847923

NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)

SNV
Germline

Chr2:32144996

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA349419

rs_864622179

8 SubmittersRCV000205236 RCV000432874 RCV001847924

NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)

SNV
Germline

Chr8:64616207

Pathogenic

Spastic paraplegia
Inborn genetic diseases
Condition: not provided
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia 5A

Criteria Provided
Multiple Submitters
No Conflicts

CA350581

rs_200737038

10 SubmittersRCV000206556 RCV000210595 RCV000729706 RCV001312060 RCV001847930 RCV005042442 RCV006249610

NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)

SNV
Germline

Chr8:64624458

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350038

rs_377119798

3 SubmittersRCV000205949 RCV000379462 RCV006435013

NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)

SNV
Germline

Chr8:64798529

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 5A
CYP7B1-related disorder
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A

Criteria Provided
Conflicting Classifications

CA349540

rs_537303950

7 SubmittersRCV000205382 RCV000512932 RCV001163749 RCV003955222 RCV005049479

NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)

SNV
Germline

Chr11:62694610

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 5A
Congenital generalized lipodystrophy type 2
not specified
Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA349870

rs_369806785

6 SubmittersRCV000276983 RCV000329673 RCV000427504 RCV000727441 RCV001087921 RCV002372202 RCV001847934

NM_015915.5(ATL1):c.757G>A (p.Val253Ile)

SNV
Germline

Chr14:50614406

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA350143

rs_864622520

10 SubmittersRCV000206078 RCV000235294 RCV001847933

NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)

SNV
Germline

Chr14:50628104

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA348222

rs_864622083

2 SubmittersRCV000203941

NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)

SNV
Germline

Chr14:50628394

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA348023

rs_864622269

13 SubmittersRCV000203724 RCV000390284 RCV000624103 RCV001847927

NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)

SNV
Germline

Chr15:44563256

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA349992

rs_61732733

10 SubmittersRCV000205885 RCV000434779 RCV001847932 RCV002292488 RCV002372199

NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)

SNV
Germline

Chr15:44633542

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350373

rs_79708848

14 SubmittersRCV000206327 RCV000444113 RCV001260213 RCV001847925 RCV006263754

NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)

SNV
Germline

Chr16:89526366

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA349347

rs_114255772

3 SubmittersRCV000205153

NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)

SNV
Germline

Chr16:89553103

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
SPG7-related disorder

Criteria Provided
Conflicting Classifications

CA350356

rs_864622507

8 SubmittersRCV000206309 RCV000993072 RCV003897449

NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)

SNV
Germline

Chr16:89553805

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Leukoencephalopathy with vanishing white matter 1

Criteria Provided
Conflicting Classifications

CA349575

rs_769602042

10 SubmittersRCV000205405 RCV000585273 RCV005861079

NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)

SNV
Germline

Chr16:89553941

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349321

rs_864622094

7 SubmittersRCV000205117 RCV000413637

NM_000533.5(PLP1):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:103776997

Pathogenic

Hereditary spastic paraplegia 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA348083

rs_864622194

2 SubmittersRCV000203805 RCV002517370

NM_001371279.1(REEP1):c.595+1G>A

SNV
Germline

Chr2:86232624

Pathogenic

Hereditary spastic paraplegia 31

No Assertion Criteria Provided

CA354093

rs_869312880

1 SubmittersRCV000210477

NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)

SNV
Germline

Chr14:67752520

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA358160

rs_869312914

3 SubmittersRCV000210660 RCV000670105 RCV003765356

NM_004820.5(CYP7B1):c.259+2T>C

SNV
Germline

Chr8:64624401

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A

Criteria Provided
Multiple Submitters
No Conflicts

CA4764264

rs_751713917

5 SubmittersRCV000490267 RCV002517441 RCV005042455

NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)

SNV
Germline

Chr19:29702923

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43

Criteria Provided
Multiple Submitters
No Conflicts

CA9351912

rs_201987973

4 SubmittersRCV000211114 RCV006462099

NM_014946.4(SPAST):c.1245+1G>A

SNV
Germline/somatic

Chr2:32128480

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Inborn genetic diseases
SPAST-related spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10576248

rs_875989878

18 SubmittersRCV000211536 RCV000993061 RCV001267594 RCV001796968 RCV001847944

NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter)

SNV
Germline

Chr10:100154922

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 62
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10576345

rs_876657413

3 SubmittersRCV000211709 RCV005625453

NM_006459.4(ERLIN1):c.149G>T (p.Gly50Val)

SNV
Germline

Chr10:100183802

Pathogenic

Hereditary spastic paraplegia 62

No Assertion Criteria Provided

CA10576346

rs_876661322

1 SubmittersRCV000211706

NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)

SNV
Germline

Chr2:240744032

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia
not specified
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Spastic paraplegia 30B, autosomal recessive
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207781

rs_35698242

15 SubmittersRCV000213625 RCV000540329 RCV000764395 RCV001847946 RCV002247667 RCV004786611 RCV005025370 RCV006276138

NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val)

SNV
Germline

Chr2:240763259

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208262

rs_765812659

4 SubmittersRCV000219370 RCV000352933 RCV000509269 RCV000639800

NM_001244008.2(KIF1A):c.815A>G (p.Asn272Ser)

SNV
Germline

Chr2:240783093

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA10577247

rs_876661283

2 SubmittersRCV000213797 RCV001854764

NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr)

SNV
Germline

Chr2:240783058

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208637

rs_756136593

4 SubmittersRCV000213561 RCV000699622 RCV001329212 RCV002444868

NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)

SNV
Germline

Chr9:92729208

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia
Neuronopathy, distal hereditary motor, autosomal dominant
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Inborn genetic diseases
BICD2-related disorder

Criteria Provided
Conflicting Classifications

CA5126852

rs_61754130

11 SubmittersRCV000224292 RCV000431161 RCV000516078 RCV000789077 RCV001081222 RCV002429084 RCV003937870

NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)

SNV
Germline

Chr15:44566301

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7534007

rs_141818132

13 SubmittersRCV000224214 RCV001085256 RCV001260212 RCV001847948 RCV002365166 RCV003919902 RCV006555712

NM_001368809.2(AMPD2):c.1081-8C>A

SNV
Germline

Chr1:109628075

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA993026

rs_145268448

3 SubmittersRCV000224507 RCV001399673 RCV005895102

NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)

SNV
Germline

Chr13:23339758

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911430

rs_61548169

7 SubmittersRCV000224523 RCV000290021 RCV001112284 RCV001084237 RCV001847949

NM_000533.5(PLP1):c.388C>T (p.His130Tyr)

SNV
Germline

ChrX:103786661

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10581371

rs_878853076

2 SubmittersRCV000223963 RCV001854777

NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)

SNV
Germline

Chr13:23331227

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910119

rs_35799469

10 SubmittersRCV000224626 RCV000251185 RCV000322346 RCV001079358 RCV001847950

NM_020435.4(GJC2):c.947C>T (p.Pro316Leu)

SNV
Germline

Chr1:228158705

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA1430934

rs_760502262

5 SubmittersRCV000224481 RCV001086089 RCV001847952 RCV006439815

NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)

SNV
Germline

Chr15:44565954

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA10581479

rs_371334506

5 SubmittersRCV000224979 RCV000498920 RCV000706352

NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr15:44633619

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Autosomal recessive SPG11-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA7535486

rs_765061840

7 SubmittersRCV000224985 RCV000757917 RCV001565198 RCV005008177 RCV006694780

NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)

SNV
Germline

Chr1:228158951

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
GJC2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1430959

rs_140942230

9 SubmittersRCV000436644 RCV001084409 RCV001848000 RCV003939882 RCV004800355

NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)

SNV
Germline

Chr2:201741784

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA2058242

rs_3219160

10 SubmittersRCV000294407 RCV000388670 RCV000756988 RCV001082502 RCV001848004 RCV006456878

NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)

SNV
Germline

Chr2:201757758

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058513

rs_190369242

8 SubmittersRCV000512695 RCV000516346 RCV000764355 RCV001082210 RCV001139424 RCV001137184 RCV001848003

NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)

SNV
Germline

Chr2:32136933

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10581968

rs_878854990

16 SubmittersRCV000234461 RCV000713464 RCV001847989

NM_014946.4(SPAST):c.1496G>A (p.Arg499His)

SNV
Germline

Chr2:32141906

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Inborn genetic diseases
Abnormal central motor function
SPAST-related disorder
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10581969

rs_878854991

29 SubmittersRCV000230990 RCV000713467 RCV000623007 RCV001814125 RCV003422150 RCV001847990

NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)

SNV
Germline

Chr2:32144995

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10581970

rs_878854992

2 SubmittersRCV000228683 RCV002472978

NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)

SNV
Germline

Chr7:4783430

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
AP5Z1-related disorder
Colon adenocarcinoma
Thymoma
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Melanoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Lung cancer
Clear cell carcinoma of kidney
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

CA4137222

rs_191971593

10 SubmittersRCV000233083 RCV001079083 RCV001847987 RCV003929988 RCV005895334 RCV005895340 RCV005895339 RCV005895341 RCV005895342 RCV005895335 RCV005895336 RCV005895343 RCV005895337 RCV005895338

NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)

SNV
Germline

Chr7:4784966

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia
Condition: not provided
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4137421

rs_572271008

6 SubmittersRCV000226846 RCV001288787 RCV001847988 RCV003430791 RCV003967657

NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val)

SNV
Germline

Chr7:4785555

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137559

rs_199930373

3 SubmittersRCV000227335 RCV000991537 RCV005672348

NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg)

SNV
Germline

Chr7:4786384

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137705

rs_376329631

4 SubmittersRCV000228923 RCV001847981 RCV002518353 RCV004791359

NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr)

SNV
Germline

Chr7:4788284

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137882

rs_535174478

3 SubmittersRCV000232141 RCV001847984 RCV003258712

NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)

SNV
Germline

Chr7:4791361

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4138468

rs_368571200

6 SubmittersRCV000226378 RCV001088873 RCV001847985 RCV003907888

NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)

SNV
Germline

Chr9:35739658

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 46
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050370

rs_142883889

5 SubmittersRCV000229631 RCV001331163 RCV001311779 RCV001848008

NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)

SNV
Germline

Chr9:35740296

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA5050485

rs_142607078

8 SubmittersRCV000231814 RCV001084099 RCV001848007 RCV006439840

NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)

SNV
Germline

Chr12:57569671

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
KIF5A-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6652748

rs_140929639

13 SubmittersRCV000229098 RCV000362839 RCV001697585 RCV001847957 RCV002516323 RCV004547607 RCV006436706

NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)

SNV
Germline

Chr12:57581917

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653261

rs_113247976

12 SubmittersRCV000424199 RCV000625002 RCV000713410 RCV001081669 RCV001260204 RCV001847959

NM_014363.6(SACS):c.12597A>G (p.Pro4199=)

SNV
Germline

Chr13:23331279

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910129

rs_112630127

8 SubmittersRCV000228765 RCV000379249 RCV000516975 RCV001560895 RCV001847972

NM_014363.6(SACS):c.11688G>A (p.Arg3896=)

SNV
Germline

Chr13:23332188

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910240

rs_116791509

8 SubmittersRCV000233808 RCV000293354 RCV000518611 RCV001563142 RCV001847971

NM_014363.6(SACS):c.10821C>A (p.Ile3607=)

SNV
Germline

Chr13:23333055

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910385

rs_113595574

8 SubmittersRCV000226968 RCV000516532 RCV001113446 RCV001689760 RCV001847970

NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)

SNV
Germline

Chr13:23335537

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910780

rs_111540787

13 SubmittersRCV000341299 RCV000676358 RCV001083821 RCV001847977 RCV002222460 RCV003929987

NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)

SNV
Germline

Chr13:23337095

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6911032

rs_146722795

13 SubmittersRCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986 RCV006439834

NM_014363.6(SACS):c.2988A>G (p.Leu996=)

SNV
Germline

Chr13:23340888

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911582

rs_111846884

11 SubmittersRCV000386665 RCV000761852 RCV001086002 RCV001109613 RCV001847974

NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys)

SNV
Germline

Chr14:102434288

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7357740

rs_751957510

5 SubmittersRCV000225996 RCV001847978 RCV002518351 RCV003401181

NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)

SNV
Germline

Chr14:67748523

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA7238918

rs_147494935

7 SubmittersRCV000228666 RCV000379338 RCV001722259 RCV001847998 RCV004999159

NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)

SNV
Germline

Chr15:44563197

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
not specified
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7533839

rs_76116949

15 SubmittersRCV000231950 RCV000514388 RCV000602319 RCV001260218 RCV001848014

NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)

SNV
Germline

Chr15:44567546

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534056

rs_144165094

7 SubmittersRCV000232056 RCV001082129 RCV002374379 RCV003939889

NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)

SNV
Germline

Chr15:44596919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Inborn genetic diseases
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534777

rs_139887370

9 SubmittersRCV000227706 RCV001658071 RCV002356309 RCV003221880 RCV003977687

NM_025137.4(SPG11):c.1602+10T>G

SNV
Germline

Chr15:44648856

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
not specified
Gastric cancer

Criteria Provided
Conflicting Classifications

CA7535513

rs_201535432

5 SubmittersRCV000230118 RCV002261019 RCV002467686 RCV002467687 RCV005238771 RCV005895383

NM_025137.4(SPG11):c.1008-4C>T

SNV
Germline

Chr15:44651943

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535634

rs_369112409

2 SubmittersRCV000229637

NM_025137.4(SPG11):c.60G>C (p.Ala20=)

SNV
Germline

Chr15:44663588

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535962

rs_544136842

3 SubmittersRCV000228154 RCV002356310

NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)

SNV
Germline

Chr15:50968263

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 51

Criteria Provided
Conflicting Classifications

CA7559184

rs_142215198

6 SubmittersRCV000232082 RCV002293430 RCV003987469

NM_024306.5(FA2H):c.691T>C (p.Tyr231His)

SNV
Germline

Chr16:74719083

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA10583427

rs_878855081

4 SubmittersRCV000229293 RCV000522066 RCV001848012 RCV003230464

NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)

SNV
Germline

Chr16:74719125

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 35
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8170441

rs_775750642

5 SubmittersRCV000226521 RCV001391536 RCV001731541 RCV001848011 RCV003480565

NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)

SNV
Germline

Chr16:74740048

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 35
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170581

rs_147632811

8 SubmittersRCV000514460 RCV001084384 RCV001115913 RCV001848010

NM_001166114.2(PNPLA6):c.162C>T (p.Ile54=)

SNV
Germline

Chr19:7535950

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified
Condition: not provided
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9139347

rs_200310048

6 SubmittersRCV000226456 RCV001699245 RCV001727651 RCV004532942

NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)

SNV
Germline

Chr19:7542855

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 39
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9139820

rs_145191932

12 SubmittersRCV000280617 RCV000515015 RCV001084647 RCV001847963

NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=)

SNV
Germline

Chr19:7557262

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140438

rs_375987938

3 SubmittersRCV001132626 RCV003884424

NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)

SNV
Germline

Chr19:7558902

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140492

rs_367675784

4 SubmittersRCV000234403 RCV001658064 RCV006263790

NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)

SNV
Germline

Chr19:7558947

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified
Condition: not provided
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140500

rs_138837774

10 SubmittersRCV000228258 RCV000605874 RCV001531879 RCV001847966 RCV004532941

NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr)

SNV
Germline

Chr2:240719053

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10584187

rs_879253903

3 SubmittersRCV000236433 RCV000691779 RCV002338768

NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)

SNV
Germline

Chr2:240719089

Conflicting classifications of pathogenicity

Condition: not provided
History of neurodevelopmental disorder
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207170

rs_199574770

5 SubmittersRCV000236636 RCV000719157 RCV000764388 RCV001068459

NM_001244008.2(KIF1A):c.5102G>A (p.Arg1701Gln)

SNV
Germline

Chr2:240719118

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207175

rs_780828140

2 SubmittersRCV000236246 RCV001302199

NM_001244008.2(KIF1A):c.4708C>T (p.His1570Tyr)

SNV
Germline

Chr2:240721842

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified

Criteria Provided
Conflicting Classifications

CA2207344

rs_528171871

3 SubmittersRCV000236455 RCV000639783 RCV005431571

NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)

SNV
Germline

Chr2:240722610

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207398

rs_371831198

9 SubmittersRCV000236175 RCV000528862 RCV000853578 RCV001820787 RCV001848022 RCV002338772 RCV002487099

NM_001244008.2(KIF1A):c.4297G>A (p.Val1433Met)

SNV
Germline

Chr2:240723996

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10584188

rs_879253922

3 SubmittersRCV000235597 RCV001069303 RCV002327155

NM_001244008.2(KIF1A):c.3979G>A (p.Gly1327Arg)

SNV
Germline

Chr2:240737091

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Spastic paraplegia 30A, autosomal dominant
Spastic paraplegia 30B, autosomal recessive

Criteria Provided
Conflicting Classifications

CA10584189

rs_879253904

5 SubmittersRCV000236053 RCV001334233 RCV002321899 RCV003765469 RCV006708935

NM_001244008.2(KIF1A):c.3674C>G (p.Pro1225Arg)

SNV
Germline

Chr2:240741344

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207703

rs_377389267

3 SubmittersRCV000237088 RCV000706485

NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)

SNV
Germline

Chr2:240746156

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Intellectual disability
Hereditary spastic paraplegia
not specified
KIF1A-related disorder
Inborn genetic diseases
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA2207905

rs_183359489

13 SubmittersRCV000338157 RCV000423040 RCV001084584 RCV001252531 RCV001848020 RCV001820786 RCV004532977 RCV004020917 RCV005625475

NM_001244008.2(KIF1A):c.1836G>A (p.Glu612=)

SNV
Germline

Chr2:240763279

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA10584192

rs_879254322

2 SubmittersRCV000235415 RCV001394706

NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)

SNV
Germline

Chr2:240766936

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
History of neurodevelopmental disorder
Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208322

rs_375972461

6 SubmittersRCV000236475 RCV000529826 RCV000716737 RCV000767159 RCV001143565 RCV002518454

NM_001244008.2(KIF1A):c.1040A>G (p.Tyr347Cys)

SNV
Germline

Chr2:240773254

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
KIF1A related neurological disorder
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA10584195

rs_879254004

5 SubmittersRCV000236924 RCV001334229 RCV003765473 RCV006249618 RCV005411386

NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)

SNV
Germline

Chr2:240783777

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10584198

rs_879253888

14 SubmittersRCV000236491 RCV000623278 RCV000763486 RCV000995795 RCV001857794 RCV004737388

NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)

SNV
Germline

Chr2:240797712

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10584200

rs_879253976

3 SubmittersRCV000236138 RCV001257592 RCV001848021

NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)

SNV
Germline

Chr2:86232691

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31
Inborn genetic diseases
REEP1-related disorder
Familial prostate cancer
not specified

Criteria Provided
Conflicting Classifications

CA1748693

rs_144874997

7 SubmittersRCV000236570 RCV001086893 RCV002347923 RCV003939905 RCV005890963 RCV006688689

NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)

SNV
Germline

Chr3:100748388

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2517248

rs_111356679

7 SubmittersRCV000235479 RCV000533138 RCV001081716 RCV002411066

NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)

SNV
Germline

Chr11:62705406

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Inborn genetic diseases
BSCL2-related disorder

Criteria Provided
Conflicting Classifications

CA6053624

rs_147314661

5 SubmittersRCV000235352 RCV000543721 RCV002479947 RCV002418047 RCV003930012

NM_001253852.3(AP4B1):c.114-2A>C

SNV
Germline

Chr1:113902864

Pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Multiple Submitters
No Conflicts

CA10585950

rs_879255396

5 SubmittersRCV000239291 RCV001849350 RCV001854921

NM_025137.4(SPG11):c.2316+5G>A

SNV
Germline

Chr15:44622723

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA270074844

rs_879255274

1 SubmittersRCV002518741

NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr)

SNV
Germline

Chr6:5368994

Pathogenic

Hereditary spastic paraplegia 77

Criteria Provided
Single Submitter

CA10586223

rs_145555213

3 SubmittersRCV000239526

NM_020919.4(ALS2):c.1816-8C>T

SNV
Germline

Chr2:201746756

Conflicting classifications of pathogenicity

not specified
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058339

rs_185911369

11 SubmittersRCV000251509 RCV000400905 RCV000349374 RCV000710520 RCV001087893 RCV001848038

NM_015046.7(SETX):c.3345C>G (p.Ala1115=)

SNV
Germline

Chr9:132328253

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297423

rs_142020270

12 SubmittersRCV000252372 RCV001085624 RCV001311796 RCV001848032 RCV002321932

NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)

SNV
Germline

Chr9:132328623

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Colon adenocarcinoma
Lymphoma
Nonpapillary renal cell carcinoma
Thyroid cancer, nonmedullary, 1
Melanoma
Acute myeloid leukemia
Malignant tumor of esophagus
Familial pancreatic carcinoma
Malignant lymphoma, large B-cell, diffuse
Colorectal cancer
Cervical cancer

Criteria Provided
Conflicting Classifications

CA5297507

rs_61742937

16 SubmittersRCV000250229 RCV000387370 RCV000541126 RCV001168778 RCV001391479 RCV001706351 RCV001848031 RCV005893967 RCV005893975 RCV005893970 RCV005893976 RCV005893977 RCV005893968 RCV005893969 RCV005893972 RCV005893973 RCV005893974 RCV005893971

NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)

SNV
Germline

Chr13:23336348

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6910891

rs_111920492

16 SubmittersRCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946 RCV005625487

NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)

SNV
Germline

Chr2:32089527

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10588341

rs_886039695

3 SubmittersRCV000255494 RCV001038756

NM_000533.5(PLP1):c.191+1G>A

SNV
Germline

ChrX:103785769

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10588734

rs_886039537

2 SubmittersRCV000255963 RCV002288949

NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)

SNV
Germline

Chr2:240783776

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Spastic paraplegia 30A, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA10602852

rs_886041692

12 SubmittersRCV000326247 RCV000803981 RCV001078149 RCV001808727 RCV006699249

NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly)

SNV
Germline

Chr2:32136886

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA10602853

rs_886041597

2 SubmittersRCV000360918 RCV003522953

NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)

SNV
Germline

Chr7:100106841

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 50
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10602949

rs_886041126

8 SubmittersRCV000361900 RCV001233636 RCV001849355

NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)

SNV
Germline

Chr10:100993505

Conflicting classifications of pathogenicity

Infantile onset spinocerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5653396

rs_369223258

7 SubmittersRCV001336025 RCV001722382 RCV001848044 RCV004021053

NM_021830.5(TWNK):c.241C>G (p.Leu81Val)

SNV
Germline

Chr10:100988451

Conflicting classifications of pathogenicity

Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary spastic paraplegia
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA5653043

rs_145068570

8 SubmittersRCV000320273 RCV001107964 RCV001107963 RCV001107965 RCV001102728 RCV001848043 RCV005895462

NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)

SNV
Germline

Chr13:23353788

Pathogenic/Likely pathogenic

Condition: not provided
Abnormal brain morphology
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911751

rs_752059006

15 SubmittersRCV000393719 RCV000454220 RCV000984212 RCV001859535 RCV001848046

NM_015915.5(ATL1):c.478T>C (p.Ser160Pro)

SNV
Germline

Chr14:50591595

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA10603244

rs_886041897

2 SubmittersRCV000316265 RCV000705284

NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)

SNV
Germline

Chr16:89526389

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
Inborn genetic diseases
Optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA8243735

rs_764791523

7 SubmittersRCV000276524 RCV001391423 RCV002519056 RCV004786648

NM_021830.5(TWNK):c.384C>T (p.Ser128=)

SNV
Germline

Chr10:100988594

Conflicting classifications of pathogenicity

Infantile onset spinocerebellar ataxia
Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5653057

rs_148234280

6 SubmittersRCV000294722 RCV000336672 RCV000347919 RCV000351895 RCV000386725 RCV001848047

NM_025137.4(SPG11):c.4744-6T>C

SNV
Germline

Chr15:44589420

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7534588

rs_147550048

13 SubmittersRCV000513183 RCV001086542 RCV001848049 RCV002338823 RCV006268707

NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)

SNV
Germline

Chr13:23355239

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911923

rs_61729954

16 SubmittersRCV000516147 RCV000603816 RCV000676372 RCV001082461 RCV001844110 RCV003930065

NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)

SNV
Germline

Chr2:240719052

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Intellectual disability, autosomal dominant 9
not specified

Criteria Provided
Conflicting Classifications

CA2207161

rs_199804623

14 SubmittersRCV000282862 RCV000547693 RCV000725080 RCV001848050 RCV004021106 RCV003989518 RCV004701368

NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)

SNV
Germline

Chr13:23340124

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911480

rs_76872266

9 SubmittersRCV000269188 RCV000282202 RCV000861200 RCV001086494 RCV001848052 RCV003947857

NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)

SNV
Germline

Chr14:67807405

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240681

rs_199794711

3 SubmittersRCV000348382 RCV001086049 RCV001848053

NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)

SNV
Germline

Chr2:240745782

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207842

rs_200149062

11 SubmittersRCV000346892 RCV000725374 RCV001081283 RCV001136884 RCV001848054 RCV002314010

NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)

SNV
Germline

Chr15:44660558

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535871

rs_201842512

6 SubmittersRCV000296854 RCV000692595 RCV002321952 RCV002467713 RCV002467714

NM_025137.4(SPG11):c.979C>G (p.Leu327Val)

SNV
Germline

Chr15:44652157

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
not specified

Criteria Provided
Conflicting Classifications

CA7535662

rs_146109825

7 SubmittersRCV000259263 RCV000811912 RCV002379128 RCV002467716 RCV002467715 RCV004586659

NM_014363.6(SACS):c.8022T>C (p.Phe2674=)

SNV
Germline

Chr13:23335854

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6910829

rs_34928783

9 SubmittersRCV000512830 RCV001085541 RCV001111636 RCV001848058 RCV004999227

NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)

SNV
Germline

Chr16:89526347

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8243731

rs_774774648

8 SubmittersRCV000276883 RCV000725648 RCV001848059 RCV003409411

NM_031448.6(C19orf12):c.313G>A (p.Val105Met)

SNV
Germline

Chr19:29702825

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 43
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA9351885

rs_146492790

10 SubmittersRCV000304840 RCV000468820 RCV001126321 RCV001848060 RCV003323494

NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)

SNV
Germline

Chr12:57570019

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 10
Hereditary spastic paraplegia
Inborn genetic diseases
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6652775

rs_143326964

11 SubmittersRCV000316036 RCV000725991 RCV001087471 RCV001114823 RCV001848061 RCV002521970 RCV004549595

NM_014363.6(SACS):c.11703T>C (p.Asn3901=)

SNV
Germline

Chr13:23332173

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910237

rs_146154135

6 SubmittersRCV000313782 RCV001089271 RCV001848062 RCV001782776

NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)

SNV
Germline

Chr13:23337868

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911152

rs_537408260

6 SubmittersRCV000401468 RCV000390861 RCV001087895 RCV001848064

NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)

SNV
Germline

Chr14:67783430

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma
Sarcoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA7239917

rs_140756827

13 SubmittersRCV000316714 RCV000713434 RCV001082500 RCV001119777 RCV001848065 RCV005895852 RCV005895854 RCV005895856 RCV005895853 RCV005895855

NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met)

SNV
Germline

Chr8:64616011

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Congenital bile acid synthesis defect 3
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

CA4764191

rs_145152682

7 SubmittersRCV000262419 RCV001232156 RCV001332520 RCV004725147 RCV004742366

NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)

SNV
Germline

Chr14:67775960

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239587

rs_143981992

7 SubmittersRCV000343998 RCV000408268 RCV000633073 RCV001571869 RCV001848067

NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)

SNV
Germline

Chr14:67782888

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Inborn genetic diseases
ZFYVE26-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239812

rs_148552744

7 SubmittersRCV000341865 RCV000860654 RCV001118235 RCV001848068 RCV002518084 RCV003930170 RCV004546476

NM_144599.5(NIPA1):c.312G>A (p.Pro104=)

SNV
Germline

Chr15:22812248

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 6
Hereditary spastic paraplegia
NIPA1-related disorder

Criteria Provided
Conflicting Classifications

CA7426136

rs_139372534

8 SubmittersRCV000726331 RCV000616724 RCV001087083 RCV001848069 RCV003940067

NM_000533.5(PLP1):c.453G>A (p.Lys151=)

SNV
Germline

ChrX:103786726

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10606773

rs_886044450

4 SubmittersRCV000380260 RCV000691268 RCV004595503

NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)

SNV
Germline

Chr2:201727708

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia
ALS2-related motor neuron disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2058054

rs_375742430

5 SubmittersRCV000316456 RCV000361538 RCV000703570 RCV001848676 RCV005355653 RCV006263882

NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)

SNV
Germline

Chr2:201733377

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Peripheral axonal neuropathy
Infantile-onset ascending hereditary spastic paralysis
not specified
Condition: not provided
Hereditary spastic paraplegia
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA2058171

rs_202219507

11 SubmittersRCV000328276 RCV000382737 RCV000414980 RCV000813075 RCV001289224 RCV001580056 RCV001848678 RCV001358657

NM_002156.5(HSPD1):c.428-15A>G

SNV
Germline

Chr2:197495391

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2043609

rs_769110777

2 SubmittersRCV000383647 RCV002521353

NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)

SNV
Germline

Chr2:201726526

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia
Condition: not provided
Amyotrophic lateral sclerosis
not specified

Criteria Provided
Conflicting Classifications

CA2057955

rs_200706696

7 SubmittersRCV000261194 RCV000355910 RCV000863616 RCV000515815 RCV001590976 RCV001260560 RCV004999329

NM_001244008.2(KIF1A):c.*23C>A

SNV
Germline

Chr2:240717341

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207077

rs_531276835

2 SubmittersRCV000377326 RCV001799653

NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=)

SNV
Germline

Chr2:240719195

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207193

rs_148176695

5 SubmittersRCV000300261 RCV000534365 RCV001848681 RCV002338932 RCV003430853

NM_001244008.2(KIF1A):c.4744-5C>T

SNV
Germline

Chr2:240721043

Conflicting classifications of pathogenicity

not specified
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207308

rs_117815481

8 SubmittersRCV000600006 RCV000555537 RCV000398914 RCV001718709 RCV004530366

NM_001244008.2(KIF1A):c.4529C>T (p.Pro1510Leu)

SNV
Germline

Chr2:240722592

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10612901

rs_368005947

5 SubmittersRCV000359221 RCV000536756 RCV002317846 RCV002244807

NM_001244008.2(KIF1A):c.4110C>T (p.Ser1370=)

SNV
Germline

Chr2:240726838

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207501

rs_374134509

4 SubmittersRCV000875296 RCV000399773 RCV002292531 RCV002356465

NM_001244008.2(KIF1A):c.3901+9G>A

SNV
Germline

Chr2:240740049

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207604

rs_141647310

2 SubmittersRCV000356185 RCV001422875

NM_001244008.2(KIF1A):c.3672G>A (p.Arg1224=)

SNV
Germline

Chr2:240741346

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207704

rs_371024769

6 SubmittersRCV000402353 RCV000559411 RCV002317847 RCV001590979 RCV004737451

NM_001244008.2(KIF1A):c.183+7C>T

SNV
Germline

Chr2:240789229

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2208888

rs_74469870

9 SubmittersRCV000379717 RCV000425007 RCV000639852 RCV001079242 RCV001848690

NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)

SNV
Germline

Chr2:170852781

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Condition: not provided
Inborn genetic diseases
GAD1-related disorder

Criteria Provided
Conflicting Classifications

CA1962912

rs_143058194

7 SubmittersRCV000515943 RCV001836790 RCV003437057 RCV004021779 RCV003957711

NM_001244008.2(KIF1A):c.4851C>T (p.Tyr1617=)

SNV
Germline

Chr2:240720931

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Hereditary spastic paraplegia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207283

rs_202049905

7 SubmittersRCV000321015 RCV000639812 RCV001531525 RCV001848682 RCV006458289 RCV002317845

NM_001244008.2(KIF1A):c.4123-12C>T

SNV
Germline

Chr2:240725416

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207480

rs_373658287

3 SubmittersRCV000347086 RCV001567444 RCV002057682

NM_001244008.2(KIF1A):c.2582+4G>A

SNV
Germline

Chr2:240758356

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208069

rs_572013653

3 SubmittersRCV000375945 RCV000874293 RCV001718710

NM_001244008.2(KIF1A):c.1342-4C>A

SNV
Germline

Chr2:240769710

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208425

rs_745742289

2 SubmittersRCV000291468 RCV002057684

NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=)

SNV
Germline

Chr2:240771091

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2208473

rs_201242759

6 SubmittersRCV000872099 RCV000402204 RCV001718711 RCV001848686

NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)

SNV
Germline

Chr2:240788210

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208850

rs_141052770

12 SubmittersRCV000364235 RCV000500342 RCV000710153 RCV001085045 RCV001848688 RCV002311419

NM_020919.4(ALS2):c.1677A>G (p.Lys559=)

SNV
Germline

Chr2:201753206

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058388

rs_367640165

6 SubmittersRCV000546027 RCV001580129 RCV001848679

NM_002156.5(HSPD1):c.869+12T>C

SNV
Germline

Chr2:197493312

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2043493

rs_781462822

2 SubmittersRCV000358017 RCV003588617

NM_002156.5(HSPD1):c.429T>C (p.Gly143=)

SNV
Germline

Chr2:197495375

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10613640

rs_886055389

3 SubmittersRCV000326552 RCV006731925 RCV006612314

NM_014946.4(SPAST):c.*1376A>G

SNV
Germline

Chr2:32155872

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613715

rs_575900032

2 SubmittersRCV000299753 RCV003422314

NM_001371279.1(REEP1):c.*94T>C

SNV
Germline

Chr2:86216945

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10614127

rs_141976852

3 SubmittersRCV000269579 RCV000713451 RCV001848694

NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)

SNV
Germline

Chr2:240721004

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Condition: not provided
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207300

rs_200902828

7 SubmittersRCV000292157 RCV000503252 RCV000827544 RCV001085849 RCV002519958

NM_001244008.2(KIF1A):c.4308G>A (p.Ala1436=)

SNV
Germline

Chr2:240723985

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207429

rs_370868080

6 SubmittersRCV000375615 RCV000546441 RCV001697748 RCV002356464

NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr)

SNV
Germline

Chr2:240745865

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
KIF1A-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2207859

rs_201793635

8 SubmittersRCV000295121 RCV000533973 RCV001590980 RCV002436198 RCV001848685 RCV004530367 RCV006690339

NM_001244008.2(KIF1A):c.2116+12C>T

SNV
Germline

Chr2:240762707

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208192

rs_192836330

3 SubmittersRCV000277058 RCV000429217 RCV002057683

NM_001244008.2(KIF1A):c.882+8G>A

SNV
Germline

Chr2:240782582

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
not specified
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208612

rs_376552408

8 SubmittersRCV000320440 RCV000530116 RCV000439829 RCV001391575 RCV001848687 RCV005243201

NM_001244008.2(KIF1A):c.714G>A (p.Thr238=)

SNV
Germline

Chr2:240784995

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208697

rs_201970806

4 SubmittersRCV000293116 RCV000500447 RCV000540696 RCV001545838

NM_001244008.2(KIF1A):c.430-14G>A

SNV
Germline

Chr2:240786527

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208765

rs_201456681

4 SubmittersRCV000350424 RCV000442031 RCV002057685

NM_001244008.2(KIF1A):c.-55C>T

SNV
Germline

Chr2:240797807

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

CA10614770

rs_886055838

2 SubmittersRCV000320652 RCV000602731

NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)

SNV
Germline

Chr2:240719156

Conflicting classifications of pathogenicity

not specified
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207185

rs_527977882

6 SubmittersRCV000502740 RCV001419740 RCV001582979 RCV001848680 RCV002338931

NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)

SNV
Germline

Chr2:240719906

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207253

rs_191428830

8 SubmittersRCV000360457 RCV000413251 RCV000712151 RCV001082704 RCV002338933 RCV004544626

NM_001244008.2(KIF1A):c.4465-10C>T

SNV
Germline

Chr2:240722666

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207401

rs_750461872

3 SubmittersRCV000269294 RCV000559760 RCV001705504

NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)

SNV
Germline

Chr2:240740071

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
not specified
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207606

rs_144520412

12 SubmittersRCV000261495 RCV000538208 RCV000502939 RCV001532441 RCV001848683 RCV002314061

NM_001244008.2(KIF1A):c.3741C>T (p.Ala1247=)

SNV
Germline

Chr2:240741277

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207690

rs_375646700

3 SubmittersRCV000291954 RCV001448765 RCV002450905

NM_001244008.2(KIF1A):c.1769-8T>C

SNV
Germline

Chr2:240763354

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA10615001

rs_886055836

2 SubmittersRCV000322719 RCV001482761

NM_001244008.2(KIF1A):c.423C>T (p.Ser141=)

SNV
Germline

Chr2:240787257

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208790

rs_565992344

5 SubmittersRCV000335353 RCV000548302 RCV001697759 RCV002328859

NM_001244008.2(KIF1A):c.69C>T (p.Asp23=)

SNV
Germline

Chr2:240797684

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208917

rs_774350715

4 SubmittersRCV000400441 RCV001401558 RCV002374578 RCV006263887

NM_014946.4(SPAST):c.*98A>G

SNV
Germline

Chr2:32154594

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10615121

rs_56272862

3 SubmittersRCV000369220 RCV001613093 RCV001848693

NM_014946.4(SPAST):c.*1476A>G

SNV
Germline

Chr2:32155972

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615123

rs_760307887

2 SubmittersRCV000305558 RCV003409533

NM_014946.4(SPAST):c.1744T>C (p.Leu582=)

SNV
Germline

Chr2:32154389

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA10615315

rs_886055962

2 SubmittersRCV000309433

NM_014946.4(SPAST):c.*2898C>T

SNV
Germline

Chr2:32157394

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615344

rs_886055983

2 SubmittersRCV000374971 RCV003422315

NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)

SNV
Germline

Chr3:155828335

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
not specified
Hereditary spastic paraplegia 42
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2677216

rs_76440173

8 SubmittersRCV000438416 RCV001088062 RCV001288761 RCV001197214 RCV001848696

NM_014855.3(AP5Z1):c.417G>A (p.Ala139=)

SNV
Germline

Chr7:4783366

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137205

rs_201203264

3 SubmittersRCV000863728 RCV005639112

NM_014855.3(AP5Z1):c.584A>G (p.His195Arg)

SNV
Germline

Chr7:4783761

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137269

rs_117659667

3 SubmittersRCV000710608 RCV001087428

NM_014855.3(AP5Z1):c.702C>T (p.Asp234=)

SNV
Germline

Chr7:4784283

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137326

rs_370728528

3 SubmittersRCV000276126 RCV006443181

NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)

SNV
Germline

Chr8:64616019

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4764192

rs_371522442

5 SubmittersRCV000391244 RCV000593980 RCV001078606

NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)

SNV
Germline

Chr7:4784998

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4137439

rs_200957609

11 SubmittersRCV000710609 RCV001086510 RCV001848705 RCV002523597 RCV004999351

NM_014855.3(AP5Z1):c.1132+7C>T

SNV
Germline

Chr7:4785691

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137615

rs_775865217

2 SubmittersRCV000864134

NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)

SNV
Germline

Chr7:4789918

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 48
AP5Z1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4138027

rs_374673921

5 SubmittersRCV000518556 RCV000538368 RCV003902400 RCV006435041

NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)

SNV
Germline

Chr7:4790687

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Gastric cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4138234

rs_200617745

5 SubmittersRCV000312134 RCV001848710 RCV005899221 RCV006443184

NM_015046.7(SETX):c.5283A>G (p.Gln1761=)

SNV
Germline

Chr9:132311848

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297024

rs_139063885

8 SubmittersRCV000284631 RCV000376752 RCV001080441 RCV001848725 RCV001643106 RCV003422370

NM_014846.4(WASHC5):c.2052T>G (p.Thr684=)

SNV
Germline

Chr8:125055636

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA10626945

rs_886062652

2 SubmittersRCV000403572 RCV001487917

NM_014855.3(AP5Z1):c.366+5C>T

SNV
Germline

Chr7:4781759

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137156

rs_143800095

4 SubmittersRCV000517282 RCV000862924

NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=)

SNV
Germline

Chr7:4785671

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA10629153

rs_886062353

2 SubmittersRCV000396245

NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)

SNV
Germline

Chr7:4787637

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
AP5Z1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4137762

rs_113014863

6 SubmittersRCV000863004 RCV001569108 RCV003922601 RCV004999352

NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)

SNV
Germline

Chr7:4788256

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Clear cell carcinoma of kidney
Sarcoma
Cervical cancer
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA4137867

rs_201687417

8 SubmittersRCV000710597 RCV001086379 RCV001848707 RCV005899218 RCV005899219 RCV005899217 RCV005899216 RCV006443183

NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)

SNV
Germline

Chr7:4790698

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4138240

rs_61750324

9 SubmittersRCV000462575 RCV000433241 RCV000766950 RCV001848711 RCV002523598 RCV004816615

NM_014855.3(AP5Z1):c.*92G>A

SNV
Germline

Chr7:4791477

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629162

rs_112283999

3 SubmittersRCV000324706 RCV003311784

NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)

SNV
Germline

Chr7:4781647

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4137124

rs_775883752

4 SubmittersRCV000339045 RCV000710605 RCV003932487

NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)

SNV
Germline

Chr9:132264549

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296347

rs_34000644

11 SubmittersRCV000300843 RCV000337112 RCV000507046 RCV000556745 RCV001643105 RCV001848723 RCV002402088

NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)

SNV
Germline

Chr7:4784361

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4137357

rs_377507553

6 SubmittersRCV000576257 RCV001662337 RCV001723961 RCV001848704

NM_015046.7(SETX):c.2672T>C (p.Val891Ala)

SNV
Germline

Chr9:132328926

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal dominant
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297553

rs_148181729

8 SubmittersRCV000280363 RCV000372562 RCV000644850 RCV000789558 RCV001079301 RCV001848726 RCV004732864

NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)

SNV
Germline

Chr7:4787663

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137767

rs_60284677

4 SubmittersRCV000314723 RCV001848706 RCV004808698

NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=)

SNV
Germline

Chr7:4788172

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137837

rs_370135619

2 SubmittersRCV000355941

NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)

SNV
Germline

Chr7:4790589

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4138189

rs_200280538

6 SubmittersRCV000352753 RCV001848709 RCV003480620 RCV003970056

NM_014855.3(AP5Z1):c.*532G>A

SNV
Germline

Chr7:4791917

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629282

rs_527985598

2 SubmittersRCV000296324 RCV002512089

NM_014855.3(AP5Z1):c.*1670G>C

SNV
Germline

Chr7:4793055

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629308

rs_149234202

2 SubmittersRCV000314380 RCV003311785

NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)

SNV
Germline

Chr10:95621190

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Condition: not provided
Hereditary spastic paraplegia
ALDH18A1-related disorder
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

CA5620356

rs_144816455

7 SubmittersRCV000263281 RCV001697656 RCV001848078 RCV004537703 RCV003765779

NM_014846.4(WASHC5):c.1345C>A (p.Arg449=)

SNV
Germline

Chr8:125063585

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
7 conditions
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA10630150

rs_886062653

3 SubmittersRCV000308232 RCV000626920 RCV002524544

NM_001122955.4(BSCL2):c.88-663G>A

SNV
Germline

Chr11:62706280

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10631111

rs_117862461

3 SubmittersRCV000320380 RCV000377296 RCV001778897 RCV001848085

NM_004820.5(CYP7B1):c.*337T>G

SNV
Germline

Chr8:64596305

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10631424

rs_118000312

2 SubmittersRCV000408436 RCV001848718

NM_015046.7(SETX):c.472T>G (p.Leu158Val)

SNV
Germline

Chr9:132342716

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases
not specified
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5298036

rs_145438764

13 SubmittersRCV000350037 RCV000399144 RCV000513524 RCV001080659 RCV001848728 RCV002338960 RCV003317200 RCV004530478

NM_015046.7(SETX):c.60C>T (p.Arg20=)

SNV
Germline

Chr9:132349369

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5298141

rs_553346505

3 SubmittersRCV000272372 RCV000367105 RCV001848729 RCV002356501

NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)

SNV
Germline

Chr10:95637159

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Condition: not provided
Hereditary spastic paraplegia
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
ALDH18A1-related disorder

Criteria Provided
Conflicting Classifications

CA5620588

rs_150472102

6 SubmittersRCV000287820 RCV001580480 RCV001848080 RCV003765784 RCV004537704

NM_004984.4(KIF5A):c.968+12G>C

SNV
Germline

Chr12:57569416

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6652714

rs_536186088

2 SubmittersRCV000271964 RCV001859851

NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)

SNV
Germline

Chr12:57581498

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6653225

rs_150672943

12 SubmittersRCV000625001 RCV000595607 RCV000860656 RCV001699440 RCV001848093 RCV004021552

NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)

SNV
Germline

Chr12:57581540

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Inborn genetic diseases
Condition: not provided
KIF5A-related disorder
Distal myopathy

Criteria Provided
Conflicting Classifications

CA6653231

rs_746095110

8 SubmittersRCV000361512 RCV001201559 RCV003298372 RCV003391113 RCV004737433 RCV005625540

NM_004984.4(KIF5A):c.2994A>G (p.Gly998=)

SNV
Germline

Chr12:57582603

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653285

rs_750415265

2 SubmittersRCV000357841 RCV001409311

NM_014363.6(SACS):c.4302A>G (p.Leu1434=)

SNV
Germline

Chr13:23339574

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911407

rs_34559250

9 SubmittersRCV000357802 RCV000517025 RCV000864699 RCV001171670 RCV001848102 RCV003910159

NM_021830.5(TWNK):c.1101C>T (p.Ile367=)

SNV
Germline

Chr10:100989311

Conflicting classifications of pathogenicity

Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5653164

rs_200798080

4 SubmittersRCV000281131 RCV000316283 RCV000338588 RCV000373330 RCV002059511 RCV001848070

NM_021830.5(TWNK):c.*204G>A

SNV
Germline

Chr10:100993714

Conflicting classifications of pathogenicity

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10634372

rs_61871507

3 SubmittersRCV000308919 RCV000348968 RCV000363555 RCV000404345 RCV001582924 RCV001848071

NM_015915.5(ATL1):c.1623T>G (p.Ala541=)

SNV
Germline

Chr14:50632285

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180560

rs_777479928

3 SubmittersRCV000875223 RCV002402025

NM_015346.4(ZFYVE26):c.5484+13G>A

SNV
Germline

Chr14:67772034

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239496

rs_140117984

4 SubmittersRCV000292372 RCV000438168 RCV002056409 RCV003401318

NM_015346.4(ZFYVE26):c.4401C>T (p.Pro1467=)

SNV
Germline

Chr14:67781501

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239770

rs_138543433

3 SubmittersRCV000305594 RCV000862747 RCV001200593

NM_015346.4(ZFYVE26):c.4338A>T (p.Ile1446=)

SNV
Germline

Chr14:67782814

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239793

rs_765803190

2 SubmittersRCV000408075 RCV002056411

NM_015346.4(ZFYVE26):c.2401+11T>A

SNV
Germline

Chr14:67794160

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240302

rs_191741115

3 SubmittersRCV000365485 RCV001705470 RCV002056412

NM_015346.4(ZFYVE26):c.249G>T (p.Leu83=)

SNV
Germline

Chr14:67814010

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240854

rs_199674363

2 SubmittersRCV000268119 RCV001449118

NM_015346.4(ZFYVE26):c.-70A>T

SNV
Germline

Chr14:67816033

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10635139

rs_17192296

3 SubmittersRCV000386931 RCV000438375 RCV001848654

NM_001122955.4(BSCL2):c.88-662C>A

SNV
Germline

Chr11:62706279

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10635198

rs_117597269

3 SubmittersRCV000286276 RCV000378430 RCV001778896 RCV001848084

NM_144599.5(NIPA1):c.753G>C (p.Ala251=)

SNV
Germline

Chr15:22824002

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided
NIPA1-related disorder

Criteria Provided
Conflicting Classifications

CA7426005

rs_199718530

4 SubmittersRCV000338061 RCV003422263 RCV003930350

NM_025137.4(SPG11):c.7000-8C>T

SNV
Germline

Chr15:44564706

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA10636034

rs_886051177

2 SubmittersRCV000323498

NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)

SNV
Germline

Chr15:44584085

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534385

rs_375403626

5 SubmittersRCV000685697 RCV002348056 RCV002467737 RCV002467736 RCV005865295

NM_025137.4(SPG11):c.2169C>T (p.Gly723=)

SNV
Germline

Chr15:44626406

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7535334

rs_371338650

5 SubmittersRCV000642599 RCV002418168 RCV006263861 RCV003930354

NM_002860.4(ALDH18A1):c.*140C>T

SNV
Germline

Chr10:95606622

Conflicting classifications of pathogenicity

ALDH18A1-related de Barsy syndrome
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10636990

rs_76824727

2 SubmittersRCV000375067 RCV001848073

NM_004984.4(KIF5A):c.292-14C>A

SNV
Germline

Chr12:57564094

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6652557

rs_778921032

2 SubmittersRCV000336615 RCV002056322

NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)

SNV
Germline

Chr12:57575666

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6652946

rs_370644634

4 SubmittersRCV000319934 RCV001306129 RCV001812799 RCV004549673

NM_004984.4(KIF5A):c.2271C>T (p.His757=)

SNV
Germline

Chr12:57576833

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6653062

rs_374554951

6 SubmittersRCV000334627 RCV001451082 RCV001848091 RCV003389790 RCV004549674

NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=)

SNV
Germline

Chr12:57581497

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653224

rs_781143696

2 SubmittersRCV000391555 RCV002520825

NM_024306.5(FA2H):c.1113G>C (p.Thr371=)

SNV
Germline

Chr16:74714196

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
not specified
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170302

rs_140017632

5 SubmittersRCV000357673 RCV000517834 RCV000827111 RCV001086914

NM_003119.4(SPG7):c.618+14C>T

SNV
Germline

Chr16:89524261

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243691

rs_574361328

2 SubmittersRCV000396965

NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)

SNV
Germline

Chr16:89553940

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8244521

rs_754203248

4 SubmittersRCV000393347 RCV000869510

NM_014363.6(SACS):c.6069C>T (p.Asn2023=)

SNV
Germline

Chr13:23337807

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911143

rs_35369023

7 SubmittersRCV000289978 RCV000861552 RCV001660626 RCV001848100

NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)

SNV
Germline

Chr13:23339759

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911431

rs_61326562

6 SubmittersRCV000323040 RCV000884011 RCV001848103 RCV006441719

NM_014363.6(SACS):c.3144A>G (p.Val1048=)

SNV
Germline

Chr13:23340732

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911561

rs_3751369

7 SubmittersRCV000279611 RCV000712974 RCV001081930 RCV001848104 RCV004748723

NM_014363.6(SACS):c.1066A>G (p.Ile356Val)

SNV
Germline

Chr13:23355546

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911978

rs_148286091

6 SubmittersRCV000348179 RCV001848108 RCV001660628 RCV002522279

NM_015915.5(ATL1):c.622C>T (p.Pro208Ser)

SNV
Germline

Chr14:50595624

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases
ATL1-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7180294

rs_147839037

6 SubmittersRCV000406065 RCV000428652 RCV002365364 RCV003409489 RCV005625542

NM_015915.5(ATL1):c.756C>T (p.Asn252=)

SNV
Germline

Chr14:50614405

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7180340

rs_771031586

4 SubmittersRCV000871475 RCV002392857 RCV004999300

NM_015346.4(ZFYVE26):c.*583C>T

SNV
Germline

Chr14:67747853

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640683

rs_72723172

2 SubmittersRCV000391305 RCV002262985

NM_015346.4(ZFYVE26):c.*88G>A

SNV
Germline

Chr14:67748348

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640687

rs_73276691

2 SubmittersRCV000272454 RCV001590939

NM_015346.4(ZFYVE26):c.6160-13A>G

SNV
Germline

Chr14:67762425

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239292

rs_759043669

2 SubmittersRCV000358380 RCV002061162

NM_015346.4(ZFYVE26):c.6135C>T (p.Ala2045=)

SNV
Germline

Chr14:67762696

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239308

rs_146209388

3 SubmittersRCV000268394 RCV000427351 RCV000633107

NM_015346.4(ZFYVE26):c.4974+12C>T

SNV
Germline

Chr14:67777547

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239630

rs_200969714

2 SubmittersRCV000340554 RCV002056410

NM_015346.4(ZFYVE26):c.4035G>T (p.Val1345=)

SNV
Germline

Chr14:67783117

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239851

rs_374530573

5 SubmittersRCV000333452 RCV000442507 RCV000860479 RCV001848646 RCV003311751

NM_015346.4(ZFYVE26):c.2859A>T (p.Leu953=)

SNV
Germline

Chr14:67789495

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7240154

rs_189616103

4 SubmittersRCV000301379 RCV000860527 RCV003409491 RCV005418073

NM_015346.4(ZFYVE26):c.2427C>T (p.Gly809=)

SNV
Germline

Chr14:67793734

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
not specified
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7240277

rs_144063215

4 SubmittersRCV000269255 RCV000867636 RCV000612844 RCV003969878

NM_144599.5(NIPA1):c.*2070A>C

SNV
Germline

Chr15:22826309

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641470

rs_746614226

2 SubmittersRCV000363629 RCV003221910

NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser)

SNV
Germline

Chr15:44572742

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534186

rs_185665930

5 SubmittersRCV000863585 RCV003332160 RCV002365371

NM_025137.4(SPG11):c.5664T>C (p.Asp1888=)

SNV
Germline

Chr15:44584016

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10641941

rs_886051181

2 SubmittersRCV000302068 RCV002348055

NM_025137.4(SPG11):c.4162-10T>C

SNV
Germline

Chr15:44596365

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534740

rs_765557765

3 SubmittersRCV000972966 RCV004772894

NM_025137.4(SPG11):c.4137A>G (p.Gln1379=)

SNV
Germline

Chr15:44596808

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534757

rs_748617459

3 SubmittersRCV000372895 RCV002328828

NM_025137.4(SPG11):c.3038+14A>G

SNV
Germline

Chr15:44615349

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified

Criteria Provided
Conflicting Classifications

CA7535085

rs_774593393

3 SubmittersRCV000285130 RCV004767228

NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)

SNV
Germline

Chr15:44648910

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535527

rs_557277528

7 SubmittersRCV000318542 RCV001529614 RCV002402029

NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)

SNV
Germline

Chr15:44659165

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535791

rs_573482671

3 SubmittersRCV000348489 RCV002467754 RCV002467755

NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys)

SNV
Germline

Chr12:57583148

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653311

rs_756348570

2 SubmittersRCV000263091 RCV001850634

NM_004984.4(KIF5A):c.396+13C>T

SNV
Germline

Chr12:57564225

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6652568

rs_377008480

2 SubmittersRCV000315550 RCV002056323

NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)

SNV
Germline

Chr12:57581887

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653255

rs_139801016

7 SubmittersRCV000391548 RCV001039954 RCV000994942 RCV001260220 RCV001848094

NM_004984.4(KIF5A):c.*326G>T

SNV
Germline

Chr12:57584507

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642979

rs_150199729

3 SubmittersRCV000292786 RCV003391114

NM_014363.6(SACS):c.12438G>A (p.Ser4146=)

SNV
Germline

Chr13:23331438

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6910143

rs_150959878

7 SubmittersRCV000268383 RCV000861751 RCV001848096 RCV003992276 RCV005434806

NM_014363.6(SACS):c.10443C>G (p.Leu3481=)

SNV
Germline

Chr13:23333433

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910450

rs_144087359

11 SubmittersRCV000361442 RCV000862081 RCV001288370 RCV001723893 RCV001848097

NM_014363.6(SACS):c.7647T>G (p.Leu2549=)

SNV
Germline

Chr13:23336229

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6910879

rs_186301471

6 SubmittersRCV000310623 RCV000865836 RCV001848098 RCV006436734

NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)

SNV
Germline

Chr13:23338654

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911277

rs_201724656

5 SubmittersRCV000354216 RCV000876841 RCV001848101

NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)

SNV
Germline

Chr13:23355149

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911912

rs_375875022

7 SubmittersRCV000317718 RCV000464896 RCV000712962 RCV001848106

NM_001166114.2(PNPLA6):c.315+13C>T

SNV
Germline

Chr19:7536286

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified

Criteria Provided
Conflicting Classifications

CA9139408

rs_200676307

3 SubmittersRCV000319802 RCV000433731

NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=)

SNV
Germline

Chr19:7540242

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139524

rs_566213812

3 SubmittersRCV000316213 RCV003418044

NM_001166114.2(PNPLA6):c.714+6T>G

SNV
Germline

Chr19:7540314

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA9139534

rs_368637145

4 SubmittersRCV000389421 RCV004725171 RCV005894884

NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=)

SNV
Germline

Chr19:7542027

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139716

rs_748049105

2 SubmittersRCV000291991

NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=)

SNV
Germline

Chr19:7550598

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139987

rs_779751590

2 SubmittersRCV000303880

NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=)

SNV
Germline

Chr19:7555673

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140296

rs_145459571

3 SubmittersRCV000330381 RCV003884491

NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)

SNV
Germline

Chr13:23336924

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910993

rs_147949881

12 SubmittersRCV000371368 RCV000712986 RCV001247269 RCV001642968 RCV001848099 RCV002520865

NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)

SNV
Germline

Chr13:23354700

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911820

rs_200333323

7 SubmittersRCV000306464 RCV001288709 RCV001400059 RCV001848105 RCV004955414 RCV004748724

NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)

SNV
Germline

Chr13:23355393

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911950

rs_201569239

4 SubmittersRCV000333051 RCV002472984 RCV001848107 RCV002520871

NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)

SNV
Germline

Chr16:74774524

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia
Hereditary spastic paraplegia
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8170617

rs_527421775

12 SubmittersRCV000303256 RCV001246003 RCV001848665 RCV002222486 RCV001171919 RCV002522890

NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=)

SNV
Germline

Chr14:67755218

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239129

rs_144007962

5 SubmittersRCV000391713 RCV000518776 RCV000468012 RCV001731593 RCV001848116

NM_003119.4(SPG7):c.306C>T (p.Asn102=)

SNV
Germline

Chr16:89512967

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8243514

rs_147397994

3 SubmittersRCV000381153 RCV001539840

NM_003119.4(SPG7):c.1359G>A (p.Ala453=)

SNV
Germline

Chr16:89544682

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8244155

rs_115448299

4 SubmittersRCV000274144 RCV000419596 RCV006441842

NM_003119.4(SPG7):c.1971C>T (p.Ile657=)

SNV
Germline

Chr16:89553828

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244503

rs_140356355

2 SubmittersRCV000373621

NM_003119.4(SPG7):c.2083C>T (p.Leu695=)

SNV
Germline

Chr16:89553940

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA10644618

rs_754203248

2 SubmittersRCV000313068

NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)

SNV
Germline

Chr14:67807511

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Spastic paraplegia
not specified
ZFYVE26-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7240705

rs_150230201

7 SubmittersRCV000292145 RCV000860644 RCV001081273 RCV001660641 RCV003910183 RCV005771967

NM_015915.5(ATL1):c.1152A>G (p.Pro384=)

SNV
Germline

Chr14:50628063

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180448

rs_377127492

4 SubmittersRCV000608836 RCV000865579 RCV002348051

NM_144599.5(NIPA1):c.*5185C>T

SNV
Germline

Chr15:22829424

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645601

rs_569739849

2 SubmittersRCV000400975 RCV003422261

NM_015346.4(ZFYVE26):c.7617G>A (p.Lys2539=)

SNV
Germline

Chr14:67748439

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7238907

rs_550301037

3 SubmittersRCV000377251 RCV000877392 RCV001848114

NM_015346.4(ZFYVE26):c.7248A>G (p.Lys2416=)

SNV
Germline

Chr14:67752467

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10645790

rs_886050652

2 SubmittersRCV000281442 RCV000860554

NM_015346.4(ZFYVE26):c.6849A>G (p.Thr2283=)

SNV
Germline

Chr14:67755188

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239123

rs_74935043

4 SubmittersRCV000351144 RCV000861277 RCV001718646

NM_015346.4(ZFYVE26):c.6339A>G (p.Leu2113=)

SNV
Germline

Chr14:67762233

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239259

rs_764363798

2 SubmittersRCV000303700 RCV001418774

NM_015346.4(ZFYVE26):c.6011+7G>A

SNV
Germline

Chr14:67766220

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239339

rs_149860093

2 SubmittersRCV000316966 RCV000872564

NM_015346.4(ZFYVE26):c.5225C>G (p.Ser1742Cys)

SNV
Germline

Chr14:67775111

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
ZFYVE26-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239557

rs_193244014

4 SubmittersRCV000333316 RCV000870022 RCV003972338 RCV006731918

NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)

SNV
Germline

Chr14:67782859

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239804

rs_373740172

6 SubmittersRCV000355669 RCV000419450 RCV000633053 RCV001848118 RCV004965400 RCV006277788

NM_015346.4(ZFYVE26):c.1369C>G (p.Leu457Val)

SNV
Germline

Chr14:67804167

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7240542

rs_201917832

4 SubmittersRCV000324829 RCV000863809 RCV001565240 RCV001660640

NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)

SNV
Germline

Chr14:67807607

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Tip-toe gait
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7240736

rs_147919567

12 SubmittersRCV000314561 RCV000517889 RCV000513295 RCV001079194 RCV001848652 RCV002227471 RCV003930346

NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)

SNV
Germline

Chr14:67807841

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
not specified
Spastic paraplegia
ZFYVE26-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7240783

rs_144919978

6 SubmittersRCV000308862 RCV000518599 RCV000865318 RCV003910184 RCV004021611

NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys)

SNV
Germline

Chr14:67809202

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240820

rs_201229339

7 SubmittersRCV000264348 RCV000993051 RCV002520917 RCV002522320

NM_015346.4(ZFYVE26):c.30T>G (p.Ala10=)

SNV
Germline

Chr14:67815934

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7240902

rs_141905183

6 SubmittersRCV000263317 RCV000860555 RCV001705471 RCV004999307

NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)

SNV
Germline

Chr15:44565976

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7533963

rs_151317653

6 SubmittersRCV000459952 RCV001541266 RCV002365370

NM_025137.4(SPG11):c.6007-6T>C

SNV
Germline

Chr15:44573751

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA10646021

rs_886051180

2 SubmittersRCV000395913

NM_025137.4(SPG11):c.4001+9G>T

SNV
Germline

Chr15:44598256

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7534797

rs_141177255

3 SubmittersRCV000516184 RCV001082495

NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr)

SNV
Germline

Chr15:44629323

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535435

rs_775799559

5 SubmittersRCV000558428 RCV002244797 RCV002411207

NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)

SNV
Germline

Chr15:64970137

Conflicting classifications of pathogenicity

Mast syndrome
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7612942

rs_149251662

6 SubmittersRCV000705591 RCV000713450 RCV001848660

NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)

SNV
Germline

Chr17:64492910

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8712956

rs_148101254

7 SubmittersRCV001848667 RCV000335486 RCV000441311 RCV000421922

NM_025137.4(SPG11):c.7203A>G (p.Leu2401=)

SNV
Germline

Chr15:44563250

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10647000

rs_886051176

2 SubmittersRCV000303411 RCV002374536

NM_025137.4(SPG11):c.7146C>T (p.Ser2382=)

SNV
Germline

Chr15:44564552

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7533897

rs_747227352

4 SubmittersRCV000528519 RCV002365369 RCV003401329

NM_025137.4(SPG11):c.6205+10C>G

SNV
Germline

Chr15:44573537

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified

Criteria Provided
Conflicting Classifications

CA7534238

rs_548551204

3 SubmittersRCV000860604 RCV006688799

NM_025137.4(SPG11):c.5407C>T (p.Leu1803=)

SNV
Germline

Chr15:44584273

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534411

rs_200102584

4 SubmittersRCV000395929 RCV002348057 RCV006441768

NM_025137.4(SPG11):c.3145+12C>T

SNV
Germline

Chr15:44613418

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535052

rs_375672539

2 SubmittersRCV000379567

NM_025137.4(SPG11):c.2317-13C>G

SNV
Germline

Chr15:44622360

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA10647003

rs_372670941

5 SubmittersRCV000310734 RCV002286730 RCV005010276

NM_025137.4(SPG11):c.2245-13A>G

SNV
Germline

Chr15:44622812

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535308

rs_200426807

2 SubmittersRCV000346867

NM_025137.4(SPG11):c.257+13G>A

SNV
Germline

Chr15:44663378

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
SPG11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7535917

rs_201936649

8 SubmittersRCV000625162 RCV000837894 RCV003969884 RCV006688800

NM_024306.5(FA2H):c.570C>A (p.Thr190=)

SNV
Germline

Chr16:74726268

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8170484

rs_138892784

5 SubmittersRCV000291663 RCV000633114 RCV001697665 RCV006441817

NM_024306.5(FA2H):c.540G>T (p.Val180=)

SNV
Germline

Chr16:74726298

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170490

rs_150423523

2 SubmittersRCV000344071 RCV000865404

NM_003119.4(SPG7):c.663G>A (p.Lys221=)

SNV
Germline

Chr16:89526373

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243734

rs_575421836

2 SubmittersRCV000343162

NM_005619.5(RTN2):c.986G>A (p.Ser329Asn)

SNV
Germline

Chr19:45493207

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 12
Inborn genetic diseases
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9516115

rs_145653668

4 SubmittersRCV000269406 RCV002523071 RCV001850768 RCV003409524

NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)

SNV
Germline

Chr16:74716542

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA8170371

rs_199815871

9 SubmittersRCV000383560 RCV000416009 RCV001080196 RCV001848663 RCV002307485

NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=)

SNV
Germline

Chr19:7555628

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140289

rs_752794292

3 SubmittersRCV000275462 RCV006650080

NM_001166114.2(PNPLA6):c.1680C>T (p.Asp560=)

SNV
Germline

Chr19:7549978

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139903

rs_761103593

2 SubmittersRCV000408428

NM_001166114.2(PNPLA6):c.2922C>A (p.Gly974=)

SNV
Germline

Chr19:7555353

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140262

rs_767028461

3 SubmittersRCV000369978 RCV006650079

NM_001166114.2(PNPLA6):c.3397+11G>T

SNV
Germline

Chr19:7557295

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140443

rs_370597983

2 SubmittersRCV000384874

NM_001166114.2(PNPLA6):c.3492G>C (p.Leu1164=)

SNV
Germline

Chr19:7558944

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140499

rs_577065342

3 SubmittersRCV000290616 RCV003418045

NM_001166114.2(PNPLA6):c.3549T>C (p.Val1183=)

SNV
Germline

Chr19:7559001

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9140508

rs_35770729

8 SubmittersRCV000646162 RCV001288685 RCV001848673

NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)

SNV
Germline

Chr19:29708346

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9351991

rs_544395324

5 SubmittersRCV000330049 RCV000797968 RCV003144216

NM_001166114.2(PNPLA6):c.2402-11C>A

SNV
Germline

Chr19:7554198

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140091

rs_756209420

2 SubmittersRCV000300253

NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=)

SNV
Germline

Chr19:7561079

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140620

rs_202070445

2 SubmittersRCV000342031

NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=)

SNV
Germline

Chr19:7561109

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140624

rs_149871062

4 SubmittersRCV000424871 RCV000864645 RCV004544603

NM_001166114.2(PNPLA6):c.4024-13C>T

SNV
Germline

Chr19:7561475

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140686

rs_78093267

2 SubmittersRCV000281944

NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)

SNV
Germline

Chr13:23338247

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911218

rs_761089024

7 SubmittersRCV000409299 RCV000515938 RCV001865273

NM_001122955.4(BSCL2):c.864-2A>G

SNV
Germline

Chr11:62691423

Pathogenic

Congenital generalized lipodystrophy type 2
Berardinelli-Seip congenital lipodystrophy
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy

Criteria Provided
Single Submitter

CA16042200

rs_766061024

3 SubmittersRCV000412618 RCV003311802 RCV005049541

NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)

SNV
Germline

Chr2:240775862

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Spastic paraplegia
Hereditary spastic paraplegia 30
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA16042465

rs_749718096

7 SubmittersRCV000414618 RCV000543471 RCV000679891 RCV001391607 RCV002221151

NM_001244008.2(KIF1A):c.803G>A (p.Gly268Glu)

SNV
Germline

Chr2:240783105

Pathogenic/Likely pathogenic

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA16042466

rs_1057518226

2 SubmittersRCV000413291 RCV003766154

NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)

SNV
Germline

Chr14:67797750

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16042934

rs_1057518016

6 SubmittersRCV000413277 RCV000664216 RCV001383171

NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)

SNV
Germline

Chr15:44573742

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534277

rs_200220848

8 SubmittersRCV000413070 RCV000713421 RCV001088264 RCV002356511

NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)

SNV
Germline

Chr16:74774617

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 35
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA16043088

rs_1057518032

4 SubmittersRCV000413571 RCV001336096 RCV001337611 RCV005900675

NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)

SNV
Germline

Chr19:7558970

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39
Rod-cone dystrophy
Laurence-Moon syndrome
Cerebellar ataxia-hypogonadism syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Criteria Provided
Conflicting Classifications

CA16043120

rs_1057517802

5 SubmittersRCV000413765 RCV000696127 RCV001376230 RCV005429017

NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)

SNV
Germline

Chr2:240788182

Pathogenic/Likely pathogenic

Hyperreflexia
Spastic paraplegia
Lower limb hyperreflexia
Clonus
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA16043389

rs_1057518760

5 SubmittersRCV000414911 RCV001251219 RCV001861441

NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)

SNV
Germline

Chr10:95823245

Conflicting classifications of pathogenicity

Global developmental delay
Microcephaly
Polymicrogyria
Hereditary spastic paraplegia 64
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5621309

rs_150772804

5 SubmittersRCV000415148 RCV000556080 RCV001848735 RCV004808701

NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)

SNV
Germline

Chr15:44584299

Pathogenic/Likely pathogenic

Difficulty walking
Spastic paraparesis
Gait disturbance
Generalized hyperreflexia
Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Juvenile amyotrophic lateral sclerosis
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA7534422

rs_201689565

21 SubmittersRCV000414944 RCV000801301 RCV001268887 RCV001848737 RCV003105892 RCV003168606 RCV003483611 RCV005010315 RCV004767249

NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)

SNV
Germline

Chr15:44598738

Conflicting classifications of pathogenicity

Generalized hyperreflexia
Difficulty walking
Gait disturbance
Spastic paraparesis
Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16043489

rs_1057518874

3 SubmittersRCV000415188 RCV001197643 RCV005429240

NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)

SNV
Germline

Chr19:7561509

Pathogenic/Likely pathogenic

Dysarthria
Cerebellar ataxia
Hypogonadotropic hypogonadism 7 with or without anosmia
Gait ataxia
Dysarthria
Cerebellar atrophy
Condition: not provided
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
PNPLA6-related disorder
Laurence-Moon syndrome
Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Autosomal recessive PNPLA6-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA9140693

rs_374434303

12 SubmittersRCV000414761 RCV000415064 RCV001268258 RCV001643137 RCV001861448 RCV003235202 RCV006695599 RCV006696377

NM_001160148.2(DDHD1):c.2649C>T (p.Phe883=)

SNV
Germline

Chr14:53046822

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

CA7190923

rs_374202355

2 SubmittersRCV000416235 RCV002521470

NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter)

SNV
Germline

Chr4:107949457

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 56

Criteria Provided
Multiple Submitters
No Conflicts

CA3037195

rs_766380148

4 SubmittersRCV000415839 RCV001805035

NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)

SNV
Germline

Chr2:32116180

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16043827

rs_1057519181

3 SubmittersRCV000416011 RCV001391499 RCV004022186

NM_001244008.2(KIF1A):c.4339C>T (p.Arg1447Ter)

SNV
Germline

Chr2:240723538

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA16043890

rs_1057519240

2 SubmittersRCV000415884 RCV003766169

NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)

SNV
Germline

Chr7:4787644

Pathogenic

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4137764

rs_373919408

6 SubmittersRCV000416330 RCV001848739 RCV003422385

NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter)

SNV
Germline

Chr7:4783361

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 48
Condition: not provided
Macular dystrophy with or without extraocular features

Criteria Provided
Multiple Submitters
No Conflicts

CA4137202

rs_778457903

5 SubmittersRCV000416347 RCV005411422 RCV005255585

NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter)

SNV
Germline

Chr7:4789856

Pathogenic

Hereditary spastic paraplegia 48
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16044055

rs_1057519342

3 SubmittersRCV000416332 RCV004816651 RCV005639116

NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His)

SNV
Germline

Chr2:240719133

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2207179

rs_756912340

6 SubmittersRCV000437574 RCV000527406 RCV000764389 RCV002328908 RCV006690411

NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu)

SNV
Germline

Chr2:240719824

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207238

rs_184939069

5 SubmittersRCV000418762 RCV000500845 RCV001324698 RCV002524723

NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)

SNV
Germline

Chr2:240721011

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1A-related disorder
Intellectual disability, autosomal dominant 9
not specified

Criteria Provided
Conflicting Classifications

CA2207302

rs_201139273

15 SubmittersRCV000437823 RCV000544072 RCV001848743 RCV002338983 RCV004544732 RCV005860075 RCV006452627

NM_007215.4(POLG2):c.694G>A (p.Gly232Ser)

SNV
Germline

Chr17:64492768

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA8712943

rs_143660836

7 SubmittersRCV000438898 RCV001848744 RCV005434906

NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)

SNV
Germline

Chr1:113900263

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 47
Intellectual disability
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
AP4B1-related disorder

Criteria Provided
Conflicting Classifications

CA1016017

rs_141417436

10 SubmittersRCV000425918 RCV000463656 RCV001251671 RCV001821192 RCV001848780 RCV002313102 RCV003912733

NM_001244008.2(KIF1A):c.4666-5C>T

SNV
Germline

Chr2:240721889

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2207350

rs_532806732

5 SubmittersRCV000639803 RCV001531527 RCV002339088 RCV005434927

NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=)

SNV
Germline

Chr2:240746169

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Condition: not provided
not specified
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207908

rs_73102625

8 SubmittersRCV000552841 RCV001139122 RCV001310791 RCV001821174 RCV002436275 RCV004533010

NM_001244008.2(KIF1A):c.258T>C (p.Phe86=)

SNV
Germline

Chr2:240788156

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208842

rs_183284555

5 SubmittersRCV000440976 RCV000553779 RCV001141871 RCV001703687

NM_001244008.2(KIF1A):c.138G>A (p.Thr46=)

SNV
Germline

Chr2:240789281

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208892

rs_192880105

5 SubmittersRCV000438745 RCV000878072 RCV001143664 RCV001704505 RCV002393033

NM_001244008.2(KIF1A):c.5214+14C>T

SNV
Germline

Chr2:240718992

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207153

rs_777141916

4 SubmittersRCV000428782 RCV001141522 RCV002059580

NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)

SNV
Germline

Chr2:240746109

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207897

rs_373045276

7 SubmittersRCV000530369 RCV001310790 RCV001848786 RCV001821197 RCV002311502

NM_001244008.2(KIF1A):c.1179C>T (p.Asp393=)

SNV
Germline

Chr2:240773115

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2208528

rs_779694088

2 SubmittersRCV000426927 RCV006555986

NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=)

SNV
Germline

Chr2:240719878

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207248

rs_187810230

6 SubmittersRCV000544996 RCV001084977 RCV001143356 RCV002313134

NM_001244008.2(KIF1A):c.3160G>A (p.Val1054Met)

SNV
Germline

Chr2:240746081

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207892

rs_371233697

5 SubmittersRCV000441720 RCV000706002 RCV002522645

NM_001244008.2(KIF1A):c.2493G>T (p.Val831=)

SNV
Germline

Chr2:240758449

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2208083

rs_201861261

8 SubmittersRCV000538866 RCV001080669 RCV001141747 RCV002450972 RCV004737470

NM_001244008.2(KIF1A):c.1437C>T (p.Ala479=)

SNV
Germline

Chr2:240769193

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208393

rs_375180690

8 SubmittersRCV000712143 RCV001086485 RCV001136990 RCV002314150

NM_014946.4(SPAST):c.415+1G>T

SNV
Germline

Chr2:32064247

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16604220

rs_1057521135

2 SubmittersRCV000422615 RCV003522968

NM_014946.4(SPAST):c.871-1G>C

SNV
Germline

Chr2:32115701

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16604222

rs_1057524526

2 SubmittersRCV000420305 RCV003522978

NM_001371279.1(REEP1):c.408T>A (p.Ala136=)

SNV
Germline

Chr2:86251966

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 31
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1748755

rs_368965566

5 SubmittersRCV000437729 RCV000641689 RCV001662386 RCV002323628

NM_001244008.2(KIF1A):c.4545G>T (p.Pro1515=)

SNV
Germline

Chr2:240722576

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207392

rs_540399320

4 SubmittersRCV000439256 RCV001848782 RCV002059752 RCV002328969

NM_001244008.2(KIF1A):c.4249T>A (p.Ser1417Thr)

SNV
Germline

Chr2:240725278

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207456

rs_200855792

4 SubmittersRCV000439719 RCV002328970 RCV002522361

NM_001244008.2(KIF1A):c.720+5G>C

SNV
Germline

Chr2:240784984

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2208695

rs_377502239

5 SubmittersRCV000428667 RCV001317777

NM_014946.4(SPAST):c.19C>A (p.Arg7=)

SNV
Germline

Chr2:32063850

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600454

rs_779449573

2 SubmittersRCV000426065 RCV002056663

NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys)

SNV
Germline

Chr7:100102904

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 50
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA4374557

rs_200347699

4 SubmittersRCV000434728 RCV001088095 RCV003959945

NM_015214.3(DDHD2):c.1009A>C (p.Arg337=)

SNV
Germline

Chr8:38245902

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 54
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4716134

rs_778628163

4 SubmittersRCV000432313 RCV001415213 RCV001848763

NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)

SNV
Germline

Chr8:64616101

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 5A
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4764210

rs_754730601

6 SubmittersRCV000441505 RCV001391405 RCV001861511 RCV005407100

NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)

SNV
Germline

Chr10:100990885

Conflicting classifications of pathogenicity

Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia
not specified
TWNK-related disorder

Criteria Provided
Conflicting Classifications

CA5653294

rs_144001072

9 SubmittersRCV000726623 RCV001105999 RCV001106000 RCV001105997 RCV001105998 RCV001848766 RCV003993959 RCV004533016

NM_025137.4(SPG11):c.2280C>T (p.Cys760=)

SNV
Germline

Chr15:44622764

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535301

rs_567932275

5 SubmittersRCV000732366 RCV001087449 RCV001848788 RCV002446735

NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)

SNV
Germline

Chr10:95606918

Conflicting classifications of pathogenicity

Condition: not provided
ALDH18A1-related de Barsy syndrome
Hereditary spastic paraplegia
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
ALDH18A1-related disorder

Criteria Provided
Conflicting Classifications

CA5620100

rs_148601288

7 SubmittersRCV000639569 RCV001104017 RCV001848793 RCV003766437 RCV004533121

NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)

SNV
Germline

Chr14:50590980

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180213

rs_112496709

6 SubmittersRCV001702364 RCV000647937 RCV002446648

NM_015915.5(ATL1):c.1078G>A (p.Val360Met)

SNV
Germline

Chr14:50623207

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180418

rs_373267047

4 SubmittersRCV000647932 RCV001721415 RCV002418324

NM_002693.3(POLG):c.2880C>T (p.Pro960=)

SNV
Germline

Chr15:89320867

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724332

rs_752500492

8 SubmittersRCV000549125 RCV000727181 RCV001848746 RCV006443368

NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)

SNV
Germline

Chr15:44563298

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16607073

rs_778305085

4 SubmittersRCV000528304 RCV001095472 RCV000441784

NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)

SNV
Germline

Chr16:74740049

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 35
Spastic paraplegia
Hereditary spastic paraplegia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8170582

rs_141276237

8 SubmittersRCV001712218 RCV001115914 RCV000633072 RCV001848762 RCV001821170 RCV002524896

NM_007215.4(POLG2):c.315G>A (p.Glu105=)

SNV
Germline

Chr17:64496654

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8713056

rs_142121495

4 SubmittersRCV000426439 RCV000922930 RCV001848745

NM_003119.4(SPG7):c.244C>G (p.Gln82Glu)

SNV
Germline

Chr16:89510550

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8243475

rs_146115797

3 SubmittersRCV000424051 RCV002524804 RCV002521540

NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)

SNV
Germline

Chr16:89544770

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8244174

rs_562890289

5 SubmittersRCV000420140 RCV000515851 RCV001865382

NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)

SNV
Germline

Chr14:67777679

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7239652

rs_151287975

10 SubmittersRCV000443553 RCV000466291 RCV000604782 RCV001171677 RCV001848796 RCV003932691

NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)

SNV
Germline

Chr17:5007292

Conflicting classifications of pathogenicity

not specified
Spastic ataxia 2
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318954

rs_142825776

4 SubmittersRCV000421127 RCV001451575 RCV001311102 RCV001848778

NM_144599.5(NIPA1):c.21A>G (p.Ala7=)

SNV
Germline

Chr15:22786677

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7426232

rs_749414711

5 SubmittersRCV000531973 RCV001720074 RCV001848757

NM_025137.4(SPG11):c.3453+5A>G

SNV
Germline

Chr15:44608439

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Condition: not provided
SPG11-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16607785

rs_983973496

6 SubmittersRCV000431719 RCV001117294 RCV001531201 RCV003899895 RCV004022497

NM_001166114.2(PNPLA6):c.2185-15C>T

SNV
Germline

Chr19:7551347

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140025

rs_780822241

3 SubmittersRCV000437133 RCV001128916

NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)

SNV
Germline

Chr19:7536013

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9139370

rs_553088930

5 SubmittersRCV000439611 RCV000861687 RCV001848795

NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)

SNV
Germline

Chr19:7561248

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39
Condition: not provided
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140650

rs_34030828

8 SubmittersRCV000422260 RCV000457238 RCV001721287 RCV001848779 RCV004533066

NM_003119.4(SPG7):c.1325-6C>T

SNV
Germline

Chr16:89544642

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 7
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8244149

rs_371986686

5 SubmittersRCV000434380 RCV000474127 RCV003456395 RCV002524805

NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)

SNV
Germline

Chr19:7550418

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9139962

rs_138023728

9 SubmittersRCV000712781 RCV001084454 RCV001706636 RCV001848787

NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)

SNV
Germline

Chr2:32126960

Likely pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16609412

rs_1060499670

2 SubmittersRCV000449607 RCV001848797

NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)

SNV
Germline

Chr2:201718172

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2057766

rs_3219166

10 SubmittersRCV000473535 RCV001143531 RCV001143532 RCV001531945 RCV001662448 RCV001848840

NM_020919.4(ALS2):c.1578A>G (p.Thr526=)

SNV
Germline

Chr2:201754565

Conflicting classifications of pathogenicity

Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058423

rs_147284131

5 SubmittersRCV000469355 RCV001087516 RCV001848841

NM_014946.4(SPAST):c.1173+1G>A

SNV
Germline

Chr2:32127023

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610827

rs_1060502226

3 SubmittersRCV000472388 RCV000518279

NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)

SNV
Germline

Chr2:32136593

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16610830

rs_1060502227

5 SubmittersRCV000459046 RCV000482415

NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr)

SNV
Germline

Chr2:32137178

Pathogenic

Hereditary spastic paraplegia 4
SPAST-related disorder

Criteria Provided
Single Submitter

CA16610831

rs_1060502228

2 SubmittersRCV000468513 RCV003972759

NM_014946.4(SPAST):c.127G>T (p.Glu43Ter)

SNV
Germline

Chr2:32063958

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA16610962

rs_573642949

1 SubmittersRCV000461473

NM_014946.4(SPAST):c.1049C>T (p.Ala350Val)

SNV
Germline

Chr2:32116163

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
not specified

Criteria Provided
Conflicting Classifications

CA16610968

rs_1060502231

2 SubmittersRCV000467451 RCV000516430

NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)

SNV
Germline

Chr2:86264034

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16611230

rs_1060503494

2 SubmittersRCV000457155 RCV001848818

NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg)

SNV
Germline

Chr2:86282219

Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16611232

rs_1060503496

2 SubmittersRCV000466973 RCV005421809

NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu)

SNV
Germline

Chr4:107931951

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 56
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3036967

rs_147506864

4 SubmittersRCV000466558 RCV001333700 RCV001848810 RCV004760512

NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)

SNV
Germline

Chr7:4788272

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia
not specified
Retinal dystrophy
Chronic lymphocytic leukemia/small lymphocytic lymphoma

Criteria Provided
Conflicting Classifications

CA4137875

rs_186003800

12 SubmittersRCV000476354 RCV001508573 RCV001848820 RCV004525935 RCV004816679 RCV005899507

NM_014855.3(AP5Z1):c.1062C>T (p.His354=)

SNV
Germline

Chr7:4785614

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4137582

rs_192441133

5 SubmittersRCV000471286 RCV001532098 RCV001848843

NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp)

SNV
Germline

Chr7:4788227

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4137854

rs_374146548

7 SubmittersRCV000477026 RCV000991538 RCV001848819

NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)

SNV
Germline

Chr8:125055602

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612351

rs_1060502725

4 SubmittersRCV000490087 RCV001391386 RCV002230093

NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)

SNV
Germline

Chr7:4788262

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA4137868

rs_182411153

6 SubmittersRCV000710598 RCV001085751 RCV001848842 RCV004999521

NM_014855.3(AP5Z1):c.1595+4C>T

SNV
Germline

Chr7:4788298

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137885

rs_141607676

3 SubmittersRCV000459690 RCV001555482

NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=)

SNV
Germline

Chr7:4790516

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4138161

rs_780422345

2 SubmittersRCV001162875

NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)

SNV
Germline

Chr11:62690795

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
not specified
Hereditary spastic paraplegia 17
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Neuronopathy, distal hereditary motor, type 5C
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6053319

rs_149907021

8 SubmittersRCV000464780 RCV001091623 RCV002374810 RCV001848815 RCV003317226 RCV002489080 RCV005625614

NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)

SNV
Germline

Chr12:57570133

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
Condition: not provided
KIF5A-related disorder
Amyotrophic lateral sclerosis, susceptibility to, 25

Criteria Provided
Conflicting Classifications

CA6652803

rs_748402153

6 SubmittersRCV000458531 RCV001114824 RCV001289240 RCV004551528 RCV005411441

NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)

SNV
Germline

Chr13:23334472

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6910624

rs_371019314

10 SubmittersRCV000463355 RCV000712993 RCV001782958 RCV001848816

NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)

SNV
Germline

Chr12:57569403

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 10
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16613836

rs_1012819766

9 SubmittersRCV000464334 RCV000713413 RCV001391463 RCV001848809

NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)

SNV
Germline

Chr13:23335631

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Intellectual disability
not specified

Criteria Provided
Conflicting Classifications

CA6910801

rs_186436335

8 SubmittersRCV000473308 RCV000594324 RCV000765121 RCV001848817 RCV005625615 RCV004999477

NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg)

SNV
Germline

Chr14:102434423

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7357757

rs_186595127

3 SubmittersRCV000476819 RCV001848806

NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)

SNV
Germline

Chr14:102434798

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Condition: not provided
not specified
Hereditary spastic paraplegia
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7357821

rs_144915346

11 SubmittersRCV000472228 RCV001507864 RCV001844164 RCV001848807 RCV002252133 RCV002525577

NM_015915.5(ATL1):c.990+4T>A

SNV
Germline

Chr14:50620730

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180374

rs_372029461

3 SubmittersRCV000464748 RCV000518566 RCV002379471

NM_001160148.2(DDHD1):c.156C>T (p.Gly52=)

SNV
Germline

Chr14:53152943

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Condition: not provided
Hereditary spastic paraplegia
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA7191576

rs_367621941

7 SubmittersRCV000477140 RCV001721525 RCV001848828 RCV005899548

NM_015915.5(ATL1):c.461A>G (p.Gln154Arg)

SNV
Germline

Chr14:50591578

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Abnormal pyramidal sign

Criteria Provided
Conflicting Classifications

CA16614191

rs_1060502971

3 SubmittersRCV000469923 RCV001526629

NM_015346.4(ZFYVE26):c.7050T>C (p.Ala2350=)

SNV
Germline

Chr14:67754149

Conflicting classifications of pathogenicity

Spastic paraplegia
ZFYVE26-related disorder
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7239076

rs_139364887

3 SubmittersRCV000469415 RCV003932727 RCV001119563

NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met)

SNV
Germline

Chr14:67794176

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7240304

rs_200179480

3 SubmittersRCV000472037 RCV001086417 RCV005398592

NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)

SNV
Germline

Chr15:44585636

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Intellectual disability
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
not specified
Amyotrophic lateral sclerosis type 5
SPG11-related disorder
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Thyroid cancer, nonmedullary, 1
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA7534494

rs_145643238

18 SubmittersRCV000456956 RCV000658710 RCV001252107 RCV002339138 RCV002467809 RCV003488606 RCV002467808 RCV004748768 RCV003483617 RCV005899444 RCV005899443

NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)

SNV
Germline

Chr15:44620368

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Condition: not provided
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535167

rs_139687202

11 SubmittersRCV000475662 RCV000518728 RCV001563519 RCV001260217 RCV001848826

NM_025137.4(SPG11):c.176C>T (p.Ala59Val)

SNV
Germline

Chr15:44663472

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7535932

rs_552320263

8 SubmittersRCV000457651 RCV001848827 RCV002253455 RCV006447212

NM_025137.4(SPG11):c.5867-1G>T

SNV
Germline

Chr15:44575042

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614459

rs_1060501168

2 SubmittersRCV000473393 RCV006277837

NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)

SNV
Germline

Chr15:44608577

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534998

rs_201271196

5 SubmittersRCV000472310 RCV002323697 RCV002496754 RCV003155188 RCV006650132

NM_025137.4(SPG11):c.2990T>A (p.Leu997Ter)

SNV
Germline

Chr15:44615411

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA16614460

rs_1060501176

2 SubmittersRCV000459100

NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)

SNV
Germline

Chr15:44659255

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535810

rs_148175530

6 SubmittersRCV000469553 RCV001848801 RCV001788224 RCV002222513 RCV002348299

NM_015346.4(ZFYVE26):c.624T>C (p.Asp208=)

SNV
Germline

Chr14:67807660

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
ZFYVE26-related disorder

Criteria Provided
Conflicting Classifications

CA7240754

rs_140128583

5 SubmittersRCV000713438 RCV001079707 RCV001848823 RCV003960056

NM_025137.4(SPG11):c.6586-1G>T

SNV
Germline

Chr15:44567593

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA16614602

rs_1060501174

1 SubmittersRCV000457536

NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter)

SNV
Germline

Chr15:44584522

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614614

rs_1060501173

3 SubmittersRCV000462168 RCV000627294

NM_025137.4(SPG11):c.4578A>G (p.Thr1526=)

SNV
Germline

Chr15:44595316

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534643

rs_151137503

4 SubmittersRCV000461926 RCV002341084 RCV003401498

NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)

SNV
Germline

Chr15:44608472

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Condition: not provided
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
SPG11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7534986

rs_201082396

11 SubmittersRCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV001848803 RCV002467815 RCV002467814 RCV003401464 RCV006268783

NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)

SNV
Germline

Chr15:44660479

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Intellectual disability
Inborn genetic diseases
SPG11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7535855

rs_145132275

13 SubmittersRCV000460702 RCV000713418 RCV001252106 RCV002374763 RCV003942477 RCV006690482

NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)

SNV
Germline

Chr16:74774662

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 35
Hereditary spastic paraplegia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614992

rs_978032580

6 SubmittersRCV000474966 RCV001117374 RCV001848804 RCV004689744 RCV005411437

NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)

SNV
Germline

Chr16:74727307

Pathogenic/Likely pathogenic

Spastic paraplegia
Inborn genetic diseases
Condition: not provided
Neurodegeneration with brain iron accumulation
Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA16615007

rs_372350326

7 SubmittersRCV000466731 RCV000622305 RCV002248676 RCV004579546 RCV005018763

NM_003119.4(SPG7):c.932T>A (p.Val311Glu)

SNV
Germline

Chr16:89530753

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA16615322

rs_1060503429

1 SubmittersRCV000461245

NM_003119.4(SPG7):c.376+1G>T

SNV
Germline

Chr16:89513038

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8243546

rs_746053679

9 SubmittersRCV000467232 RCV000522524 RCV003447529

NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)

SNV
Germline

ChrX:103785717

Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16616406

rs_1060500909

4 SubmittersRCV000463096 RCV000681649 RCV003313955

NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg)

SNV
Germline

Chr19:7557242

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Condition: not provided
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Laurence-Moon syndrome
Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Criteria Provided
Conflicting Classifications

CA9140435

rs_773955314

5 SubmittersRCV000466086 RCV001643173 RCV001821279 RCV002290969 RCV005398626

NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)

SNV
Germline

Chr19:7561297

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Laurence-Moon syndrome
Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140664

rs_151264767

7 SubmittersRCV000470003 RCV001535779 RCV002293441

NM_014946.4(SPAST):c.1477G>T (p.Asp493Tyr)

SNV
Germline

Chr2:32137172

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA16616712

rs_1060499939

1 SubmittersRCV000468399

NM_014946.4(SPAST):c.1477G>C (p.Asp493His)

SNV
Germline

Chr2:32137172

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA16616713

rs_1060499939

3 SubmittersRCV000476656 RCV001848846

NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)

SNV
Germline

Chr1:113897926

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 47
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA1015854

rs_776976178

8 SubmittersRCV000485345 RCV000505223 RCV001848851 RCV001849381

NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn)

SNV
Germline

Chr2:240757497

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA16617507

rs_1064796756

6 SubmittersRCV000480827 RCV001333026 RCV002431417 RCV004787792 RCV004737554

NM_001244008.2(KIF1A):c.2536G>A (p.Gly846Arg)

SNV
Germline

Chr2:240758406

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208072

rs_768702963

3 SubmittersRCV000483282 RCV001068514 RCV002431388

NM_001244008.2(KIF1A):c.1038-6A>G

SNV
Germline

Chr2:240773262

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA16617508

rs_1064796903

2 SubmittersRCV000479826 RCV000706869

NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)

SNV
Germline

Chr2:240775889

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA16617510

rs_1064793161

9 SubmittersRCV000480291 RCV000496175 RCV000705000 RCV004529605 RCV004767290

NM_001244008.2(KIF1A):c.798+1G>A

SNV
Germline

Chr2:240783738

Pathogenic/Likely pathogenic

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA16617511

rs_1064796565

2 SubmittersRCV000484840 RCV001851257

NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)

SNV
Germline

Chr2:240788110

Pathogenic/Likely pathogenic

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA16617512

rs_1064795534

6 SubmittersRCV000487011 RCV000534578 RCV001251229

NM_014946.4(SPAST):c.1225G>A (p.Ala409Thr)

SNV
Germline

Chr2:32128459

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16617528

rs_1064793273

2 SubmittersRCV000481977 RCV002525773

NM_014946.4(SPAST):c.1729-1G>A

SNV
Germline

Chr2:32154373

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA16617531

rs_1064793976

3 SubmittersRCV000480764 RCV000794493

NM_015915.5(ATL1):c.1225G>T (p.Gly409Cys)

SNV
Germline

Chr14:50628136

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA16619870

rs_1064795212

2 SubmittersRCV000479836 RCV002526601

NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)

SNV
Germline

Chr14:67754158

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7239079

rs_370837940

5 SubmittersRCV000486430 RCV000984321 RCV001061340

NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser)

SNV
Germline

Chr2:197494712

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2043565

rs_67967266

4 SubmittersRCV000515926 RCV001326732 RCV006447257

NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp)

SNV
Germline

Chr2:240797722

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA68147204

rs_548204329

6 SubmittersRCV000515907 RCV000639771 RCV001266653 RCV001310793 RCV001251222

NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln)

SNV
Germline

Chr2:32126982

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA346501261

rs_1553316816

1 SubmittersRCV000516040

NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro)

SNV
Germline

Chr2:86282217

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA347722695

rs_1266102026

1 SubmittersRCV000516005

NM_004722.4(AP4M1):c.607-2A>G

SNV
Germline

Chr7:100104872

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 50

Criteria Provided
Conflicting Classifications

CA4374708

rs_755533568

2 SubmittersRCV000515853 RCV002525981

NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)

SNV
Germline

Chr8:37753994

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4711041

rs_763958615

5 SubmittersRCV000515830 RCV001070378 RCV004791494

NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)

SNV
Germline

Chr9:132327772

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5297318

rs_148604312

10 SubmittersRCV000515884 RCV000560688 RCV000859602 RCV001169791 RCV001169792 RCV002356794 RCV004541530 RCV005434963

NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)

SNV
Germline

Chr9:132328369

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Inborn genetic diseases
Amyotrophic lateral sclerosis
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297445

rs_145097270

11 SubmittersRCV000515959 RCV000517650 RCV001082564 RCV001167391 RCV001168005 RCV001283502 RCV002446949 RCV003105922 RCV004535538

NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg)

SNV
Germline

Chr9:92720601

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Criteria Provided
Conflicting Classifications

CA374043641

rs_1367809298

2 SubmittersRCV000516028 RCV001212904

NM_004984.4(KIF5A):c.572G>A (p.Arg191His)

SNV
Germline

Chr12:57567196

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA385497941

rs_1488871976

3 SubmittersRCV000516106 RCV001391453 RCV005090982

NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)

SNV
Germline

Chr12:57567514

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Spastic paraplegia
Hereditary spastic paraplegia 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA385499050

rs_1555177629

7 SubmittersRCV000516107 RCV000801216 RCV001391456 RCV002222527

NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)

SNV
Germline

Chr12:57569269

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385500471

rs_1555177824

2 SubmittersRCV000516067 RCV001391460

NM_004984.4(KIF5A):c.868G>C (p.Asp290His)

SNV
Germline

Chr12:57569304

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA385500615

rs_1555177831

1 SubmittersRCV000515861

NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)

SNV
Germline

Chr16:89513037

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA286523796

rs_912983346

5 SubmittersRCV000518245 RCV000515979 RCV003507282

NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)

SNV
Germline

Chr17:5004946

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
not specified
Spastic ataxia 2
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Thymoma
Clear cell carcinoma of kidney
Melanoma
Lung cancer
Malignant tumor of esophagus
Cervical cancer

Criteria Provided
Conflicting Classifications

CA8318865

rs_142056835

6 SubmittersRCV000487792 RCV000516075 RCV000497507 RCV001079974 RCV005899679 RCV005899680 RCV005899681 RCV005899682 RCV005899678 RCV005899683 RCV005899684 RCV005899676 RCV005899677

NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)

SNV
Germline

Chr17:5022380

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spastic ataxia 2
KIF1C-related disorder
Ovarian serous cystadenocarcinoma
Colorectal cancer
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA8319262

rs_118037269

8 SubmittersRCV000516023 RCV000645370 RCV001085955 RCV003915341 RCV005899675 RCV005899674 RCV005899673

NM_002361.4(MAG):c.452C>T (p.Ala151Val)

SNV
Germline

Chr19:35299590

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 75
MAG-related disorder
Nonpapillary renal cell carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA9376031

rs_144553163

6 SubmittersRCV000515817 RCV000553995 RCV001084459 RCV003925415 RCV005899685 RCV006443527

NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)

SNV
Germline

Chr10:95613798

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive complex spastic paraplegia type 9B
Cutis laxa, autosomal dominant 3
ALDH18A1-related de Barsy syndrome
Hereditary spastic paraplegia 9A
Cutis laxa, autosomal dominant 3
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Intellectual disability

Criteria Provided
Conflicting Classifications

CA5620205

rs_770815414

4 SubmittersRCV000487703 RCV000764926 RCV003766730 RCV005625633

NM_015915.5(ATL1):c.922G>A (p.Glu308Lys)

SNV
Germline

Chr14:50620658

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 1D
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA7180365

rs_773401705

3 SubmittersRCV000488307 RCV001334885 RCV001856884

NM_144599.5(NIPA1):c.266C>T (p.Ala89Val)

SNV
Germline

Chr15:22812202

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA7426151

rs_548931873

4 SubmittersRCV000487800 RCV002525991 RCV006612354

NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)

SNV
Germline

Chr17:5003999

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318771

rs_146872023

5 SubmittersRCV000488299 RCV001085446 RCV001848856

NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)

SNV
Germline

Chr19:7553973

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140064

rs_145988230

12 SubmittersRCV000487803 RCV000613986 RCV001848857 RCV004535540

NM_001244008.2(KIF1A):c.3616C>T (p.Arg1206Trp)

SNV
Germline

Chr2:240742953

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207730

rs_772443183

3 SubmittersRCV000488364 RCV000793899 RCV001262976

NM_001244008.2(KIF1A):c.5029G>A (p.Val1677Ile)

SNV
Germline

Chr2:240719191

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207190

rs_757070178

3 SubmittersRCV000489290 RCV000764390 RCV000700081

NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)

SNV
Germline

Chr2:240797716

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
See cases
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
KIF1A related neurological disorder
Inborn genetic diseases
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA351315932

rs_1064794935

9 SubmittersRCV000489169 RCV001057550 RCV001568399 RCV003224875 RCV004787796 RCV006362377 RCV005252921

NM_014846.4(WASHC5):c.2888A>G (p.Asn963Ser)

SNV
Germline

Chr8:125039861

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4873397

rs_748167994

2 SubmittersRCV000489354 RCV001848858

NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)

SNV
Germline

Chr16:89532543

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

CA397420893

rs_745444834

5 SubmittersRCV000490105 RCV001643206 RCV004800424

NM_001166114.2(PNPLA6):c.4055G>A (p.Arg1352His)

SNV
Germline

Chr19:7561519

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140697

rs_746687452

3 SubmittersRCV000489232 RCV001056938

NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)

SNV
Germline

Chr2:240775895

Pathogenic/Likely pathogenic

Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
KIF1A related neurological disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA351297780

rs_1131690804

13 SubmittersRCV000492064 RCV000523291 RCV001391606 RCV001202708 RCV001848859 RCV004787802

NM_014946.4(SPAST):c.1170G>A (p.Met390Ile)

SNV
Germline

Chr2:32127019

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4
SPAST-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346501341

rs_1131691971

3 SubmittersRCV000494283 RCV001364718 RCV004730958

NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro)

SNV
Germline

Chr2:32154407

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346505587

rs_1131691972

4 SubmittersRCV000493133 RCV002289681

NM_006567.5(FARS2):c.1256G>A (p.Arg419His)

SNV
Germline

Chr6:5771329

Pathogenic/Likely pathogenic

Condition: not provided
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA3623926

rs_202183509

5 SubmittersRCV000493622 RCV001250393 RCV002509414 RCV003156098

NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter)

SNV
Germline

Chr7:100105533

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 50

Criteria Provided
Multiple Submitters
No Conflicts

CA368473062

rs_1131691556

2 SubmittersRCV000493866 RCV003114618

NM_025137.4(SPG11):c.3292-1G>T

SNV
Germline

Chr15:44608606

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535005

rs_201217015

4 SubmittersRCV000494617 RCV002323853 RCV001856963 RCV002282175

NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro)

SNV
Germline

Chr12:57569047

Likely pathogenic

Hereditary spastic paraplegia 10

No Assertion Criteria Provided

CA385500267

rs_1131692233

1 SubmittersRCV000495879

NM_000533.5(PLP1):c.365A>G (p.Lys122Arg)

SNV
Germline

ChrX:103786638

Likely pathogenic

Hereditary spastic paraplegia 2

No Assertion Criteria Provided

CA414102780

rs_1135401759

1 SubmittersRCV000496178

NM_001244008.2(KIF1A):c.3646G>A (p.Ala1216Thr)

SNV
Germline

Chr2:240741372

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207710

rs_368057315

3 SubmittersRCV000498449 RCV000814577 RCV004737566

NM_001244008.2(KIF1A):c.3010G>A (p.Val1004Ile)

SNV
Germline

Chr2:240747289

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability

Criteria Provided
Conflicting Classifications

CA2207937

rs_763669401

4 SubmittersRCV000498394 RCV001338181 RCV001252528

NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu)

SNV
Germline

Chr2:240760840

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2208136

rs_369410320

8 SubmittersRCV000639774 RCV000727144 RCV001848863 RCV004984919 RCV005899812

NM_001244008.2(KIF1A):c.254C>A (p.Ala85Asp)

SNV
Germline

Chr2:240788160

Pathogenic/Likely pathogenic

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA351310589

rs_1553639041

2 SubmittersRCV000498662 RCV003766801

NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg)

SNV
Germline

Chr2:32126961

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501219

rs_1553316806

3 SubmittersRCV000497447 RCV000709816

NM_014946.4(SPAST):c.1413+1G>T

SNV
Germline

Chr2:32136969

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502369

rs_1553318276

3 SubmittersRCV000497939 RCV006463117

NM_014946.4(SPAST):c.1494-5T>G

SNV
Germline

Chr2:32141899

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA645372364

rs_1553319072

3 SubmittersRCV000497683 RCV001037433

NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)

SNV
Germline

Chr8:125078802

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
not specified

Criteria Provided
Conflicting Classifications

CA4874059

rs_72720524

6 SubmittersRCV000498521 RCV001163828 RCV001086849 RCV001662485

NM_025137.4(SPG11):c.796C>T (p.Gln266Ter)

SNV
Germline

Chr15:44657168

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392237268

rs_1234882277

3 SubmittersRCV000497842 RCV001223427

NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu)

SNV
Germline

Chr15:50948119

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
AP4E1-related disorder

Criteria Provided
Conflicting Classifications

CA7559023

rs_148817957

7 SubmittersRCV000498765 RCV000633021 RCV001722419 RCV001848861 RCV003902750

NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu)

SNV
Germline

Chr4:107932095

Likely pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

CA357833324

rs_761575210

1 SubmittersRCV000498760

NM_183075.3(CYP2U1):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr4:107945422

Pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

CA357837573

rs_1553937522

1 SubmittersRCV000497580

NM_001368809.2(AMPD2):c.1407+3A>G

SNV
Germline

Chr1:109628498

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
AMPD2-related disorder

Criteria Provided
Conflicting Classifications

CA993087

rs_41280332

6 SubmittersRCV000502839 RCV000513569 RCV001083524 RCV003932809

NM_001253852.3(AP4B1):c.338+5G>A

SNV
Germline

Chr1:113902633

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA28973775

rs_1019204290

2 SubmittersRCV000504025

NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met)

SNV
Germline

Chr2:240719128

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207177

rs_769279843

5 SubmittersRCV000504511 RCV000639776 RCV002266975 RCV002341186

NM_001244008.2(KIF1A):c.5017G>A (p.Val1673Ile)

SNV
Germline

Chr2:240719778

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207228

rs_774256831

2 SubmittersRCV000503596 RCV000639784

NM_001244008.2(KIF1A):c.4716C>T (p.His1572=)

SNV
Germline

Chr2:240721834

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207342

rs_375640417

3 SubmittersRCV000499558 RCV001392658 RCV002329198

NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His)

SNV
Germline

Chr2:240725310

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207461

rs_755301795

6 SubmittersRCV000503848 RCV000823472 RCV001334234 RCV002323866 RCV004737574 RCV005255590

NM_001244008.2(KIF1A):c.4004A>G (p.Asp1335Gly)

SNV
Germline

Chr2:240737066

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207558

rs_747271930

4 SubmittersRCV000499482 RCV001042115 RCV002376923 RCV004808738

NM_001244008.2(KIF1A):c.3104C>T (p.Ser1035Leu)

SNV
Germline

Chr2:240746137

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207901

rs_764873243

3 SubmittersRCV000502828 RCV000556446 RCV002280122

NM_001244008.2(KIF1A):c.311C>T (p.Ser104Phe)

SNV
Germline

Chr2:240788103

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351310212

rs_1553639010

2 SubmittersRCV000499628 RCV001391596

NM_004722.4(AP4M1):c.544-6T>G

SNV
Germline

Chr7:100104086

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 50
Inborn genetic diseases
Condition: not provided
Lung cancer
Clear cell carcinoma of kidney
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA4374669

rs_372511561

6 SubmittersRCV000503528 RCV000647741 RCV002527195 RCV003441898 RCV005899832 RCV005899831 RCV005899830

NM_015214.3(DDHD2):c.277T>C (p.Leu93=)

SNV
Germline

Chr8:38234450

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 54
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4715924

rs_544728429

3 SubmittersRCV000500790 RCV000866048 RCV003437232

NM_015214.3(DDHD2):c.699C>T (p.Ser233=)

SNV
Germline

Chr8:38240351

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 54

Criteria Provided
Conflicting Classifications

CA4716062

rs_560050475

2 SubmittersRCV000502899 RCV002527233

NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)

SNV
Germline

Chr13:23338976

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911327

rs_143961484

6 SubmittersRCV000503684 RCV000551798 RCV000765124 RCV001848875

NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)

SNV
Germline

Chr16:89531949

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA397419954

rs_368373840

5 SubmittersRCV000501596 RCV001662499 RCV003235255

NM_000533.5(PLP1):c.696+8G>T

SNV
Germline

ChrX:103788518

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334001302

rs_902326390

6 SubmittersRCV000500115 RCV001450144 RCV001573638

NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)

SNV
Germline

ChrX:153868067

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10554306

rs_199888009

5 SubmittersRCV000500394 RCV001517300 RCV002413377 RCV001848871 RCV005865326

NM_020944.3(GBA2):c.786+9C>A

SNV
Germline

Chr9:35741663

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
not specified
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5050624

rs_374309697

5 SubmittersRCV000500837 RCV000614875 RCV000862733 RCV006438121

NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)

SNV
Germline

Chr16:74714197

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 35
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170303

rs_141854925

6 SubmittersRCV000513492 RCV000541410 RCV001117253 RCV001848878

NM_001199753.2(CPT1C):c.855C>T (p.Arg285=)

SNV
Germline

Chr19:49705090

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 73

Criteria Provided
Conflicting Classifications

CA9581980

rs_140099471

3 SubmittersRCV000512647 RCV001521028

NM_001244008.2(KIF1A):c.4208G>A (p.Arg1403His)

SNV
Germline

Chr2:240725319

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207465

rs_537708830

3 SubmittersRCV000513173 RCV000805967

NM_001244008.2(KIF1A):c.1651G>A (p.Val551Ile)

SNV
Germline

Chr2:240766948

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208324

rs_373891682

3 SubmittersRCV000512977 RCV000703923

NM_020944.3(GBA2):c.1688-8T>C

SNV
Germline

Chr9:35739117

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050309

rs_754147042

3 SubmittersRCV000513107 RCV001078835 RCV001848879

NM_001371279.1(REEP1):c.198T>C (p.Tyr66=)

SNV
Germline

Chr2:86254799

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA427281256

rs_1444613668

3 SubmittersRCV000514797 RCV001857859 RCV002420295

NM_006612.6(KIF1C):c.1165+4G>A

SNV
Germline

Chr17:5005004

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA8318879

rs_192489748

6 SubmittersRCV000514056 RCV001080394 RCV001848880 RCV006438161

NM_001244008.2(KIF1A):c.1684+17G>A

SNV
Germline

Chr2:240766898

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208316

rs_574718771

2 SubmittersRCV000514804 RCV002060217

NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)

SNV
Germline

Chr1:228158992

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Lymphatic malformation 3
Hereditary spastic paraplegia 44
Hypomyelinating leukodystrophy 2
Hereditary spastic paraplegia
Inborn genetic diseases
not specified
Hypomyelinating leukodystrophy 2

Criteria Provided
Conflicting Classifications

CA1430971

rs_200334298

13 SubmittersRCV000513690 RCV000633030 RCV000763840 RCV001848882 RCV002528231 RCV003323580 RCV004691246

NM_001166114.2(PNPLA6):c.3816+1G>A

SNV
Germline

Chr19:7560765

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 39
Sarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA403138038

rs_1490826010

3 SubmittersRCV000514941 RCV000554262 RCV005901094

NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)

SNV
Germline

Chr2:240719840

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
History of neurodevelopmental disorder
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA2207239

rs_376658420

8 SubmittersRCV000517273 RCV000639790 RCV000718224 RCV000764391

NM_001244008.2(KIF1A):c.4555G>A (p.Glu1519Lys)

SNV
Germline

Chr2:240722566

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207388

rs_769965899

2 SubmittersRCV000518018 RCV003766929

NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu)

SNV
Germline

Chr2:240741338

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207702

rs_374244985

7 SubmittersRCV000530899 RCV000764394 RCV001143455 RCV001544962 RCV002455993

NM_001244008.2(KIF1A):c.2088C>T (p.Asn696=)

SNV
Germline

Chr2:240762747

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2208204

rs_758111969

5 SubmittersRCV000517336 RCV000767168 RCV001083254 RCV001848888 RCV004737586

NM_014946.4(SPAST):c.734C>G (p.Ser245Ter)

SNV
Germline

Chr2:32114689

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498423

rs_1553314896

3 SubmittersRCV000516292 RCV000535751

NM_014946.4(SPAST):c.782C>A (p.Ser261Ter)

SNV
Germline

Chr2:32114737

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498584

rs_768241184

2 SubmittersRCV000517216 RCV003522985

NM_014946.4(SPAST):c.832G>A (p.Val278Met)

SNV
Germline

Chr2:32114787

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1600714

rs_369908571

6 SubmittersRCV000518464 RCV000764403 RCV001848906 RCV002525084

NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)

SNV
Germline

Chr2:32114793

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498808

rs_1553314948

5 SubmittersRCV000516709 RCV000821011

NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser)

SNV
Germline

Chr2:32126965

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346501226

rs_1425976342

2 SubmittersRCV000644904 RCV002473041

NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)

SNV
Germline

Chr2:32128430

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501410

rs_1553317025

11 SubmittersRCV000516537 RCV000686298

NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)

SNV
Germline

Chr2:32136593

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Flexion contracture
Spastic diplegia
Pes valgus
Spasticity
Tip-toe gait
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502047

rs_1060502227

7 SubmittersRCV000644897 RCV000626922 RCV003482273

NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)

SNV
Germline

Chr2:32137145

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346502457

rs_1553318317

4 SubmittersRCV000517007 RCV001216975 RCV002281101

NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)

SNV
Germline

Chr2:32145004

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA346504288

rs_121908518

10 SubmittersRCV000517099 RCV000644889 RCV001848905

NM_014946.4(SPAST):c.1730T>G (p.Met577Arg)

SNV
Germline

Chr2:32154375

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346505502

rs_1553321196

3 SubmittersRCV000517986 RCV000700492

NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)

SNV
Germline

Chr7:4781259

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137053

rs_146682319

5 SubmittersRCV000516731 RCV000862691 RCV001821449

NM_014855.3(AP5Z1):c.1601C>T (p.Ala534Val)

SNV
Germline

Chr7:4788845

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137936

rs_764332870

5 SubmittersRCV000517661 RCV001770391 RCV001851423 RCV002525019

NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)

SNV
Germline

Chr9:132327165

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297202

rs_143661911

10 SubmittersRCV000518326 RCV000550269 RCV001644615 RCV001848902 RCV002329225 RCV001165737 RCV001167321 RCV004537862

NM_015046.7(SETX):c.1392A>G (p.Ser464=)

SNV
Germline

Chr9:132330206

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297784

rs_144164119

7 SubmittersRCV000517536 RCV001463467 RCV001848899 RCV002395236 RCV004732919 RCV006450215

NM_015046.7(SETX):c.654G>C (p.Lys218Asn)

SNV
Germline

Chr9:132336360

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297991

rs_117861188

13 SubmittersRCV000516905 RCV000535102 RCV001311799 RCV001848903 RCV001166018 RCV001166019 RCV002367720 RCV004541619

NM_014363.6(SACS):c.8972G>A (p.Arg2991His)

SNV
Germline

Chr13:23334904

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910684

rs_192610957

6 SubmittersRCV000518535 RCV000765119 RCV001085517 RCV001644612 RCV001848898

NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)

SNV
Germline

Chr13:23337540

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911101

rs_80132141

7 SubmittersRCV000517696 RCV001080771 RCV001848895 RCV001111736

NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)

SNV
Germline

Chr13:23337825

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911147

rs_35865691

6 SubmittersRCV000516670 RCV001112183 RCV001082654 RCV001848894 RCV005000085

NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)

SNV
Germline

Chr13:23340950

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911590

rs_139993038

10 SubmittersRCV000516574 RCV001081341 RCV001109615 RCV001644611 RCV001848892 RCV003905307

NM_014363.6(SACS):c.2602A>G (p.Ile868Val)

SNV
Germline

Chr13:23341274

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6911659

rs_142284018

8 SubmittersRCV000518481 RCV000820462 RCV001111916 RCV001848891 RCV002525072 RCV006458454

NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)

SNV
Germline

Chr13:23354727

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases
SACS-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6911833

rs_149638449

9 SubmittersRCV000518207 RCV001083870 RCV001113726 RCV001848890 RCV002525071 RCV004748801 RCV005901156

NM_014363.6(SACS):c.810T>G (p.Phe270Leu)

SNV
Germline

Chr13:23355802

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6912021

rs_116907814

10 SubmittersRCV000517365 RCV000728923 RCV001085212 RCV001112465 RCV001848897 RCV003962434

NM_015915.5(ATL1):c.481G>T (p.Ala161Ser)

SNV
Germline

Chr14:50591598

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389667492

rs_1555363969

3 SubmittersRCV000517609 RCV000802695 RCV006255697

NM_015915.5(ATL1):c.1228G>A (p.Gly410Arg)

SNV
Germline

Chr14:50628139

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA389675812

rs_1555365854

3 SubmittersRCV000516661 RCV002527456

NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=)

SNV
Germline

Chr14:67786202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240084

rs_138895639

6 SubmittersRCV000516415 RCV000710228 RCV001085997 RCV001121757 RCV001848909

NM_144599.5(NIPA1):c.17C>G (p.Ala6Gly)

SNV
Germline

Chr15:22786673

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA267581019

rs_944860201

3 SubmittersRCV000517000 RCV002527497 RCV005682303

NM_144599.5(NIPA1):c.315C>T (p.Phe105=)

SNV
Germline

Chr15:22812251

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 6
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

CA7426135

rs_373273269

3 SubmittersRCV000517764 RCV001408583 RCV005901137

NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)

SNV
Germline

Chr15:44563292

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7533860

rs_201918221

7 SubmittersRCV000518466 RCV000540747 RCV001584232 RCV002376955

NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)

SNV
Germline

Chr15:44608461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534984

rs_114945876

6 SubmittersRCV000517057 RCV000840197 RCV001084485 RCV002455996

NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)

SNV
Germline

Chr15:44629361

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535442

rs_763060505

4 SubmittersRCV000517770 RCV001851462 RCV002467849 RCV002467850 RCV005054210

NM_024306.5(FA2H):c.925G>A (p.Val309Ile)

SNV
Germline

Chr16:74716461

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8170349

rs_150427439

8 SubmittersRCV000518709 RCV000633034 RCV001848887 RCV001310336

NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu)

SNV
Germline

Chr19:7561537

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39
PNPLA6-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140701

rs_116012798

4 SubmittersRCV000518428 RCV000861262 RCV004537858 RCV006435061

NM_001244008.2(KIF1A):c.4544C>T (p.Pro1515Leu)

SNV
Germline

Chr2:240722577

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA68137691

rs_867230401

3 SubmittersRCV000522204 RCV000639770

NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn)

SNV
Germline

Chr2:240737142

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207576

rs_371252476

5 SubmittersRCV000523796 RCV001087401 RCV002314914 RCV004541632

NM_001244008.2(KIF1A):c.3886C>G (p.Arg1296Gly)

SNV
Germline

Chr2:240740073

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207608

rs_201684653

4 SubmittersRCV000520239 RCV000639801 RCV002358411

NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr)

SNV
Germline

Chr2:240786491

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351307022

rs_1553638655

3 SubmittersRCV000522046 RCV001051953 RCV001775130

NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn)

SNV
Germline

Chr2:32127013

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501330

rs_1553316838

2 SubmittersRCV000521931 RCV000528465

NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)

SNV
Germline

Chr7:100105982

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 50
not specified

Criteria Provided
Conflicting Classifications

CA4374881

rs_531148057

5 SubmittersRCV000519004 RCV000765978 RCV004017662

NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter)

SNV
Germline

Chr8:38245878

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA4716128

rs_201258800

4 SubmittersRCV000519521 RCV000650277

NM_007055.4(POLR3A):c.1771-7C>G

SNV
Germline

Chr10:78009682

Pathogenic/Likely pathogenic

Condition: not provided
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Neonatal pseudo-hydrocephalic progeroid syndrome
POLR-related leukodystrophy
Adult onset hereditary spastic paraplegia
POLR3A-related disorder
Intellectual disability
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA5571323

rs_201314157

27 SubmittersRCV000522489 RCV000787963 RCV001290309 RCV002222542 RCV005865330 RCV003387867 RCV005625666 RCV006717041

NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)

SNV
Germline

Chr14:50590969

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA7180212

rs_377736535

5 SubmittersRCV000522762 RCV000536617

NM_015915.5(ATL1):c.587A>G (p.Tyr196Cys)

SNV
Germline

Chr14:50595589

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389668858

rs_1555364246

3 SubmittersRCV000520465 RCV001320969 RCV006659601

NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu)

SNV
Germline

Chr14:50628115

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA389675711

rs_1555365850

3 SubmittersRCV000520804 RCV002248755

NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)

SNV
Germline

Chr16:74774626

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA396768354

rs_1268722908

3 SubmittersRCV000520744 RCV003155224 RCV005091208

NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)

SNV
Germline

Chr16:89553130

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397432955

rs_758702550

3 SubmittersRCV000520300 RCV001066395

NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)

SNV
Germline

Chr16:89553796

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8244495

rs_199689138

6 SubmittersRCV000521089 RCV001062199 RCV001848911

NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)

SNV
Germline

Chr17:5007273

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318947

rs_142046798

7 SubmittersRCV000521926 RCV001321550 RCV001848914

NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)

SNV
Germline

Chr17:5023759

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8319435

rs_550136320

7 SubmittersRCV000523662 RCV001350123 RCV001848915

NM_024989.4(PGAP1):c.1876T>C (p.Tyr626His)

SNV
Germline

Chr2:196848023

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42

Criteria Provided
Conflicting Classifications

CA2040760

rs_150893861

2 SubmittersRCV001848971 RCV000560352

NM_001244008.2(KIF1A):c.5086C>T (p.Arg1696Cys)

SNV
Germline

Chr2:240719134

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351298557

rs_772521110

3 SubmittersRCV000551400 RCV002341322 RCV004546516

NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His)

SNV
Germline

Chr2:240719810

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207234

rs_199557318

6 SubmittersRCV000545939 RCV001509203 RCV004787884

NM_001244008.2(KIF1A):c.3905G>A (p.Arg1302His)

SNV
Germline

Chr2:240737165

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2207584

rs_376697478

3 SubmittersRCV000550664 RCV001799678 RCV006268849

NM_001244008.2(KIF1A):c.405C>T (p.Asn135=)

SNV
Germline

Chr2:240787275

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208797

rs_151212200

5 SubmittersRCV000534886 RCV002323966 RCV001141869 RCV005231045

NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys)

SNV
Germline

Chr2:240722509

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207376

rs_200184619

6 SubmittersRCV000554693 RCV001136789 RCV001697024 RCV001848938 RCV004541685

NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=)

SNV
Germline

Chr2:240723503

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207412

rs_375309925

6 SubmittersRCV000542782 RCV001662551 RCV002314980 RCV004537967

NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr)

SNV
Germline

Chr2:240744039

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
History of neurodevelopmental disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207782

rs_527346259

4 SubmittersRCV000525465 RCV000717402 RCV003133312

NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)

SNV
Germline

Chr2:240783764

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
Condition: not provided
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Multiple Submitters
No Conflicts

CA351303022

rs_1553638086

15 SubmittersRCV000548642 RCV001251233 RCV001266365 RCV001268098 RCV001770432 RCV001848939 RCV002289760

NM_001244008.2(KIF1A):c.327C>A (p.Gly109=)

SNV
Germline

Chr2:240788087

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208834

rs_776064107

3 SubmittersRCV000555202 RCV001141870 RCV002323965

NM_014946.4(SPAST):c.1494-2A>C

SNV
Germline

Chr2:32141902

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502809

rs_1218081251

2 SubmittersRCV000544533 RCV000713466

NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)

SNV
Germline

Chr2:240719065

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207162

rs_200511467

7 SubmittersRCV000757422 RCV001088413 RCV001141523 RCV004541687 RCV006276141

NM_001244008.2(KIF1A):c.4206G>A (p.Ser1402=)

SNV
Germline

Chr2:240725321

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207466

rs_201656750

6 SubmittersRCV000533085 RCV001139024 RCV001546769 RCV001662550 RCV002358498

NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu)

SNV
Germline

Chr2:240742970

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207739

rs_763750448

4 SubmittersRCV000539405 RCV000712147

NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro)

SNV
Germline

Chr2:240745841

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207853

rs_779093187

4 SubmittersRCV000559143 RCV000764396 RCV001002006 RCV002448687

NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys)

SNV
Germline

Chr2:240758463

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2208089

rs_376012799

4 SubmittersRCV000554679 RCV001509205 RCV003403290

NM_001244008.2(KIF1A):c.2100G>A (p.Glu700=)

SNV
Germline

Chr2:240762735

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208201

rs_374701055

4 SubmittersRCV000558590 RCV001143562 RCV002420422 RCV002292561

NM_001244008.2(KIF1A):c.4171G>A (p.Val1391Ile)

SNV
Germline

Chr2:240725356

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207471

rs_373900978

2 SubmittersRCV000552521 RCV003222024

NM_001244008.2(KIF1A):c.2480G>A (p.Arg827His)

SNV
Germline

Chr2:240758462

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2208088

rs_768899178

2 SubmittersRCV000528565 RCV001848937

NM_014946.4(SPAST):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr2:32087497

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346603062

rs_1485703744

1 SubmittersRCV000537576

NM_014946.4(SPAST):c.870G>A (p.Lys290=)

SNV
Germline

Chr2:32114825

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA425445560

rs_1421791559

2 SubmittersRCV000548239 RCV004719866

NM_014946.4(SPAST):c.1196C>G (p.Ser399Trp)

SNV
Germline

Chr2:32128430

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501409

rs_1553317025

2 SubmittersRCV000536355

NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp)

SNV
Germline

Chr2:32136967

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502364

rs_1553318274

2 SubmittersRCV000526604 RCV006698203

NM_014946.4(SPAST):c.1413+5G>C

SNV
Germline

Chr2:32136973

Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA658657026

rs_1553318282

2 SubmittersRCV000539043 RCV005004229

NM_014946.4(SPAST):c.1494-1G>C

SNV
Germline

Chr2:32141903

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502813

rs_1315245986

2 SubmittersRCV000532382

NM_014946.4(SPAST):c.1616+1G>C

SNV
Germline

Chr2:32143416

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346503866

rs_1553319327

1 SubmittersRCV000544321

NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu)

SNV
Germline

Chr2:86232702

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
not specified
Inborn genetic diseases
REEP1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1748695

rs_777245164

5 SubmittersRCV000531522 RCV000611545 RCV002341332 RCV003892136 RCV006277878

NM_006070.6(TFG):c.988A>G (p.Thr330Ala)

SNV
Germline

Chr3:100748316

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2517240

rs_145835282

3 SubmittersRCV000554884 RCV001755843 RCV002384150

NM_006567.5(FARS2):c.407C>A (p.Pro136His)

SNV
Germline

Chr6:5368977

Pathogenic/Likely pathogenic

Combined oxidative phosphorylation defect type 14
Condition: not provided
Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
FARS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3623639

rs_199863563

7 SubmittersRCV000542910 RCV001545144 RCV005398839 RCV005056163

NM_006567.5(FARS2):c.497C>T (p.Ala166Val)

SNV
Germline

Chr6:5369067

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3623658

rs_538791135

4 SubmittersRCV000546306 RCV002483484 RCV003222035

NM_004722.4(AP4M1):c.58+2T>G

SNV
Germline

Chr7:100101774

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

CA368462633

rs_1554377262

1 SubmittersRCV000534458

NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser)

SNV
Germline

Chr7:100105461

Likely pathogenic

Hereditary spastic paraplegia 50
Spastic paraplegia

Criteria Provided
Single Submitter

CA368472432

rs_1554380391

2 SubmittersRCV000549259 RCV001849402

NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly)

SNV
Germline

Chr7:4790865

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4138313

rs_113184057

9 SubmittersRCV000534066 RCV001288785 RCV001848976

NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)

SNV
Germline

Chr7:4789897

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4138019

rs_372922535

5 SubmittersRCV000546622 RCV001848975 RCV002512115

NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=)

SNV
Germline

Chr8:125032366

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA4873277

rs_200733182

2 SubmittersRCV000554231 RCV001163430

NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)

SNV
Germline

Chr8:125057660

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA372191456

rs_1554593901

4 SubmittersRCV000555090 RCV000825002 RCV001542471

NM_014846.4(WASHC5):c.885G>A (p.Gly295=)

SNV
Germline

Chr8:125075091

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA462771684

rs_1435894101

3 SubmittersRCV000543292 RCV001163530 RCV002527774

NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)

SNV
Germline

Chr9:132329119

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
See cases
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297587

rs_150532677

15 SubmittersRCV000540061 RCV000762582 RCV001000648 RCV001167461 RCV001167462 RCV002252164 RCV001848950 RCV002456164 RCV004538008

NM_015046.7(SETX):c.7100+9T>C

SNV
Germline

Chr9:132275247

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296516

rs_200088320

6 SubmittersRCV000713230 RCV001165604 RCV001087251 RCV001165603 RCV001848955 RCV004541718

NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)

SNV
Germline

Chr9:132326616

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297098

rs_146873848

13 SubmittersRCV000558440 RCV000859806 RCV001644653 RCV001848953 RCV002341378 RCV004538011

NM_015046.7(SETX):c.192A>G (p.Leu64=)

SNV
Germline

Chr9:132346457

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5298104

rs_117326462

10 SubmittersRCV000556642 RCV001167591 RCV001167592 RCV001287950 RCV001558290 RCV002413561 RCV001848949

NM_020944.3(GBA2):c.2201G>A (p.Arg734His)

SNV
Germline

Chr9:35738149

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
GBA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5050161

rs_142621039

6 SubmittersRCV000526854 RCV001591201 RCV001848928 RCV003925598 RCV006438203

NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)

SNV
Germline

Chr10:95637100

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620586

rs_201428777

6 SubmittersRCV001848936 RCV002526112 RCV003424107 RCV003766998

NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)

SNV
Germline

Chr11:62702493

Pathogenic

Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17
Berardinelli-Seip congenital lipodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA380968385

rs_137852973

6 SubmittersRCV000536990 RCV000789082 RCV001270682 RCV002284966 RCV003311850

NM_004984.4(KIF5A):c.857G>C (p.Arg286Thr)

SNV
Germline

Chr12:57569293

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA385500572

rs_1224640834

2 SubmittersRCV000549214 RCV005250071

NM_014363.6(SACS):c.12813T>G (p.Pro4271=)

SNV
Germline

Chr13:23331063

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910078

rs_146376949

12 SubmittersRCV000712961 RCV001081835 RCV001529134 RCV001848920 RCV001114727 RCV003905340

NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)

SNV
Germline

Chr13:23339132

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387527870

rs_1160357920

10 SubmittersRCV000536906 RCV000578242 RCV001848923

NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly)

SNV
Germline

Chr12:57629131

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 26
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6655656

rs_149670131

4 SubmittersRCV000526717 RCV001332013 RCV005623334

NM_014363.6(SACS):c.9399A>G (p.Lys3133=)

SNV
Germline

Chr13:23334477

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6910625

rs_762665640

5 SubmittersRCV000546063 RCV001274923 RCV001848925 RCV003403262 RCV005434997

NM_014363.6(SACS):c.2551G>T (p.Val851Phe)

SNV
Germline

Chr13:23341325

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911670

rs_756890722

5 SubmittersRCV000545527 RCV001834757 RCV001848921 RCV005000138

NM_015915.5(ATL1):c.1057G>A (p.Glu353Lys)

SNV
Germline

Chr14:50623186

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389674117

rs_1555365595

1 SubmittersRCV000556273

NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)

SNV
Germline

Chr14:53054467

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Condition: not provided
Hereditary spastic paraplegia
DDHD1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7191004

rs_144016130

6 SubmittersRCV000556458 RCV001509454 RCV001848940 RCV003925642 RCV002530055

NM_015346.4(ZFYVE26):c.6918A>T (p.Thr2306=)

SNV
Germline

Chr14:67755119

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7239112

rs_146227863

2 SubmittersRCV000532359 RCV001119564

NM_014363.6(SACS):c.3282C>T (p.Asn1094=)

SNV
Germline

Chr13:23340594

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911545

rs_145499245

4 SubmittersRCV000537247 RCV001109612 RCV001848922

NM_015915.5(ATL1):c.594A>C (p.Arg198Ser)

SNV
Germline

Chr14:50595596

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389668888

rs_1555364247

1 SubmittersRCV000536383

NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)

SNV
Germline

Chr14:102414778

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
TECPR2-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7357479

rs_144870163

5 SubmittersRCV000548770 RCV003915605 RCV004777733 RCV006701536

NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp)

SNV
Germline

Chr15:44615527

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535113

rs_140164220

4 SubmittersRCV000528211 RCV002438391 RCV003238770

NM_025137.4(SPG11):c.1605C>T (p.Ala535=)

SNV
Germline

Chr15:44633635

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7535491

rs_117683234

7 SubmittersRCV000612979 RCV000556381 RCV001696993 RCV003960331

NM_025137.4(SPG11):c.782C>A (p.Ser261Ter)

SNV
Germline

Chr15:44657182

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535724

rs_765477482

2 SubmittersRCV000541697

NM_025137.4(SPG11):c.667+5C>T

SNV
Germline

Chr15:44659074

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535775

rs_375485062

6 SubmittersRCV000552048 RCV000591526 RCV005418205

NM_025137.4(SPG11):c.42C>A (p.Gly14=)

SNV
Germline

Chr15:44663606

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535969

rs_376542524

4 SubmittersRCV001504440 RCV001848944 RCV006277883

NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)

SNV
Germline

Chr14:67783020

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390170778

rs_774809466

4 SubmittersRCV000547814 RCV000671739

NM_015346.4(ZFYVE26):c.951C>T (p.Ala317=)

SNV
Germline

Chr14:67806611

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240656

rs_142029189

2 SubmittersRCV000545743 RCV001848926

NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)

SNV
Germline

Chr15:89316804

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
6 conditions
Condition: not provided
Hereditary spastic paraplegia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724040

rs_148786642

8 SubmittersRCV000548544 RCV000765232 RCV001591204 RCV001848933 RCV003479152 RCV004659089

NM_002693.3(POLG):c.1872G>A (p.Val624=)

SNV
Germline

Chr15:89325527

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA492289266

rs_765506021

3 SubmittersRCV000545151 RCV000609746 RCV001848932

NM_025137.4(SPG11):c.4755A>C (p.Ala1585=)

SNV
Germline

Chr15:44589403

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided
SPG11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7534584

rs_144951661

7 SubmittersRCV000538275 RCV002341339 RCV003456411 RCV003900180 RCV005056148

NM_025137.4(SPG11):c.4161+9C>G

SNV
Germline

Chr15:44596775

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA658658292

rs_1555451101

3 SubmittersRCV000544562 RCV001848945 RCV002467866 RCV002467867

NM_025137.4(SPG11):c.2737C>T (p.Gln913Ter)

SNV
Germline

Chr15:44620287

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392230734

rs_1555455246

1 SubmittersRCV000539735

NM_025137.4(SPG11):c.2621-5T>C

SNV
Germline

Chr15:44620408

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA618006225

rs_1331589550

2 SubmittersRCV000527285 RCV002438389

NM_025137.4(SPG11):c.437A>G (p.Asp146Gly)

SNV
Germline

Chr15:44660437

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7535844

rs_182535774

3 SubmittersRCV000548900 RCV003962530

NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)

SNV
Germline

Chr15:44564548

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392212219

rs_1555446078

2 SubmittersRCV000535276

NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)

SNV
Germline

Chr15:44584365

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7534430

rs_150823040

9 SubmittersRCV000541207 RCV001848946 RCV002467875 RCV002509426 RCV002467874 RCV003372748 RCV006690671

NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn)

SNV
Germline

Chr15:44596256

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534720

rs_191148548

6 SubmittersRCV000556968 RCV002263778 RCV002330887 RCV002467869 RCV002467868 RCV004796233

NM_025137.4(SPG11):c.2560G>A (p.Ala854Thr)

SNV
Germline

Chr15:44621819

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535209

rs_144804884

2 SubmittersRCV000551282 RCV006277882

NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter)

SNV
Germline

Chr15:44589368

Pathogenic

Hereditary spastic paraplegia 11
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7534580

rs_753920931

5 SubmittersRCV000550739 RCV002341340 RCV004689788

NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)

SNV
Germline

Chr15:44595303

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA392226101

rs_1362530862

2 SubmittersRCV000549837 RCV005010510

NM_025137.4(SPG11):c.4274A>G (p.Asn1425Ser)

SNV
Germline

Chr15:44596243

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534716

rs_142567993

5 SubmittersRCV000536401 RCV005422050 RCV006458555 RCV006717106

NM_015161.3(ARL6IP1):c.409-2A>G

SNV
Germline

Chr16:18794685

Likely pathogenic

Hereditary spastic paraplegia 61

Criteria Provided
Single Submitter

CA7929457

rs_767874638

1 SubmittersRCV000544624

NM_003119.4(SPG7):c.1937-2A>G

SNV
Germline

Chr16:89553792

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8244494

rs_568556987

2 SubmittersRCV000554743 RCV005000165

NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly)

SNV
Germline

Chr17:5004971

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided
Ovarian serous cystadenocarcinoma
Melanoma
Uterine carcinosarcoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA8318875

rs_79290524

5 SubmittersRCV000553957 RCV001848958 RCV002292564 RCV005896837 RCV005896839 RCV005896838 RCV005896840

NM_006612.6(KIF1C):c.18G>A (p.Val6=)

SNV
Germline

Chr17:5000264

Conflicting classifications of pathogenicity

Spastic ataxia 2
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318421

rs_148361794

4 SubmittersRCV001078969 RCV000827041 RCV001848960

NM_001166114.2(PNPLA6):c.492C>T (p.Thr164=)

SNV
Germline

Chr19:7539996

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139475

rs_778359563

4 SubmittersRCV000538723 RCV001848964 RCV003424123

NM_001166114.2(PNPLA6):c.171A>C (p.Gly57=)

SNV
Germline

Chr19:7535959

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139349

rs_140825810

2 SubmittersRCV000531786 RCV000598138

NM_001199753.2(CPT1C):c.2092A>G (p.Asn698Asp)

SNV
Germline

Chr19:49712808

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9582408

rs_143091111

4 SubmittersRCV000542129 RCV004791569

NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter)

SNV
Germline

Chr19:7558955

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403134838

rs_1555751597

1 SubmittersRCV000539525

NM_006567.5(FARS2):c.461C>T (p.Ala154Val)

SNV
Germline

Chr6:5369031

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 77
Combined oxidative phosphorylation defect type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3623648

rs_749588235

5 SubmittersRCV000578201 RCV001246829 RCV005639156

NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)

SNV
Germline

Chr9:128332219

Conflicting classifications of pathogenicity

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Inborn genetic diseases
Condition: not provided
Hereditary spastic paraplegia
Spastic ataxia 10, autosomal recessive
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Criteria Provided
Conflicting Classifications

CA200341697

rs_1045118320

7 SubmittersRCV000578354 RCV000623610 RCV001268474 RCV005625688 RCV005049607

NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)

SNV
Germline

Chr16:74774654

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA283770055

rs_957683798

2 SubmittersRCV000578281

NM_000533.5(PLP1):c.817C>T (p.Arg273Ter)

SNV
Germline

ChrX:103790581

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 2
PLP1-related disorder
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA414105056

rs_1556273167

3 SubmittersRCV000578343 RCV004730983 RCV004796239

NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)

SNV
Germline

Chr2:32127018

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501338

rs_1131691977

1 SubmittersRCV000578366

NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)

SNV
Germline

Chr2:32137179

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502534

rs_1553318347

3 SubmittersRCV000578417

NM_014946.4(SPAST):c.1536G>A (p.Glu512=)

SNV
Germline

Chr2:32141946

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA425451338

rs_1553319093

4 SubmittersRCV000578771 RCV000806003 RCV004817777

NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)

SNV
Germline

Chr8:64596809

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA178383085

rs_769676029

4 SubmittersRCV000578856 RCV001391411 RCV003767256

NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr8:64624475

Pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A
CYP7B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4764275

rs_746979262

5 SubmittersRCV000579004 RCV000800946 RCV003993670 RCV005044860 RCV004742515

NM_015046.7(SETX):c.5949+5G>A

SNV
Germline

Chr9:132296882

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
not specified
Inborn genetic diseases
SETX-related disorder
Ovarian serous cystadenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA5296870

rs_374656811

12 SubmittersRCV000713224 RCV000644836 RCV001165667 RCV001169651 RCV001848978 RCV001706679 RCV002358638 RCV004530626 RCV005898549 RCV005898548

NM_015346.4(ZFYVE26):c.2554-1G>C

SNV
Germline

Chr14:67790774

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7240229

rs_760559263

5 SubmittersRCV000578746 RCV000665774 RCV001853838

NM_025137.4(SPG11):c.3039-5T>G

SNV
Germline

Chr15:44613541

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7535074

rs_763224175

4 SubmittersRCV000578846 RCV001391555 RCV003330809

NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)

SNV
Germline

Chr15:44651862

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA7535624

rs_140385286

8 SubmittersRCV000578726 RCV000642546 RCV000763352 RCV001848979 RCV002467902 RCV002467901

NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter)

SNV
Germline

Chr16:89544692

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8244158

rs_138671904

7 SubmittersRCV000579008 RCV001391430

NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)

SNV
Germline

Chr2:32154430

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346505640

rs_145206063

5 SubmittersRCV000585458 RCV003233753

NM_001244008.2(KIF1A):c.420C>T (p.Tyr140=)

SNV
Germline

Chr2:240787260

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA432025947

rs_1300729090

3 SubmittersRCV000585208 RCV002331000 RCV002530852

NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)

SNV
Germline

Chr8:125057659

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372191452

rs_1554593899

3 SubmittersRCV000585718 RCV001069360 RCV001268029

NM_001166114.2(PNPLA6):c.1290C>T (p.Ala430=)

SNV
Germline

Chr19:7542598

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA505403529

rs_763990023

2 SubmittersRCV000597043 RCV003617848

NM_001776.6(ENTPD1):c.1479C>G (p.Ile493Met)

SNV
Germline

Chr10:95866329

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 64
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5621667

rs_146889178

3 SubmittersRCV000595576 RCV001484653 RCV001848982

NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln)

SNV
Germline

Chr2:240719780

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207229

rs_761974755

6 SubmittersRCV000596825 RCV000639794 RCV002341520

NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=)

SNV
Germline

Chr2:240722567

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207389

rs_775395101

5 SubmittersRCV000597021 RCV001854048 RCV002341524 RCV004737868

NM_002693.3(POLG):c.522C>G (p.Gly174=)

SNV
Germline

Chr15:89333233

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725103

rs_766842881

5 SubmittersRCV000598054 RCV001848983 RCV002341525 RCV002532480 RCV006438443

NM_152415.3(VPS37A):c.99C>A (p.Ile33=)

SNV
Germline

Chr8:17247343

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 53

Criteria Provided
Conflicting Classifications

CA4643099

rs_373895020

2 SubmittersRCV000594079 RCV001479000

NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser)

SNV
Germline

Chr8:64798494

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 5A
Spastic paraplegia
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

CA4764306

rs_181854355

7 SubmittersRCV000592567 RCV001163460 RCV001510265 RCV004742528

NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)

SNV
Germline

Chr14:67752398

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239008

rs_147321202

4 SubmittersRCV000597001 RCV001118024 RCV001405020

NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)

SNV
Germline

Chr8:64798498

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 5A
not specified
Spastic paraplegia
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

CA179061869

rs_571177831

7 SubmittersRCV000597899 RCV001163747 RCV001644701 RCV002062103 RCV003953003

NM_004984.4(KIF5A):c.3020+1G>A

SNV
Germline

Chr12:57582630

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 25
Spastic paraplegia
Hereditary spastic paraplegia 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385517122

rs_1555179091

3 SubmittersRCV000599583 RCV001854130 RCV005409683

NM_001244008.2(KIF1A):c.2582+7G>A

SNV
Germline

Chr2:240758353

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2208067

rs_781439626

4 SubmittersRCV000608170 RCV000639853 RCV001848995 RCV004544763

NM_014946.4(SPAST):c.1617-3C>T

SNV
Germline

Chr2:32144934

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600972

rs_201212542

3 SubmittersRCV001698451 RCV001848998 RCV001868071

NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=)

SNV
Germline

Chr8:38252245

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4716298

rs_139004425

3 SubmittersRCV000650284 RCV001722591 RCV001848985

NM_001122955.4(BSCL2):c.1234+7G>A

SNV
Germline

Chr11:62690605

Conflicting classifications of pathogenicity

not specified
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5A
Hereditary spastic paraplegia
Condition: not provided
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

CA6053286

rs_200631909

6 SubmittersRCV000604138 RCV001105808 RCV001105807 RCV001848989 RCV002227188 RCV001421953

NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)

SNV
Germline

Chr14:102434287

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7357739

rs_149584733

4 SubmittersRCV000606857 RCV000862492 RCV001848992

NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=)

SNV
Germline

Chr12:57581135

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653182

rs_147057295

5 SubmittersRCV001113506 RCV001397862 RCV001707753 RCV001848987

NM_015346.4(ZFYVE26):c.684C>T (p.Pro228=)

SNV
Germline

Chr14:67807600

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7240730

rs_369761894

3 SubmittersRCV000607718 RCV000866811 RCV001118448

NM_025137.4(SPG11):c.257+15A>C

SNV
Germline

Chr15:44663376

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535915

rs_538988623

3 SubmittersRCV000599711 RCV001117513

NM_014844.5(TECPR2):c.606T>C (p.Ser202=)

SNV
Germline

Chr14:102414761

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7357475

rs_140791062

5 SubmittersRCV000610616 RCV000862126 RCV001848988 RCV004808795

NM_144599.5(NIPA1):c.798C>T (p.Val266=)

SNV
Germline

Chr15:22824047

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA267606531

rs_1008907564

3 SubmittersRCV000600132 RCV001848997 RCV002528617

NM_003119.4(SPG7):c.516C>T (p.His172=)

SNV
Germline

Chr16:89524145

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243662

rs_141065708

3 SubmittersRCV000607127 RCV001848991 RCV002529628

NM_001166114.2(PNPLA6):c.3914-11C>T

SNV
Germline

Chr19:7561197

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140641

rs_371325894

3 SubmittersRCV001129030 RCV001712633

NM_001166114.2(PNPLA6):c.232+14G>A

SNV
Germline

Chr19:7536034

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139372

rs_199727584

3 SubmittersRCV000608033 RCV001134321

NM_031448.6(C19orf12):c.177G>A (p.Gly59=)

SNV
Germline

Chr19:29702961

Conflicting classifications of pathogenicity

not specified
Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9351922

rs_768063881

4 SubmittersRCV000602670 RCV001126322 RCV001457687 RCV003411449

NM_006702.5(PNPLA6):c.-43+3G>A

SNV
Germline

Chr19:7534905

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA304859127

rs_185247203

2 SubmittersRCV000605991 RCV001128694

NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)

SNV
Germline

Chr1:113896423

Pathogenic

Inborn genetic diseases
Spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Multiple Submitters
No Conflicts

CA1015805

rs_142209254

4 SubmittersRCV000624560 RCV001849414 RCV005357821

NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)

SNV
Germline

Chr1:113901236

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spastic paraplegia
Hereditary spastic paraplegia 47
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1016061

rs_149705131

6 SubmittersRCV000623523 RCV001849410 RCV002531883 RCV004719904

NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His)

SNV
Germline

Chr2:240750497

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207986

rs_201742042

3 SubmittersRCV000623154 RCV000995793 RCV001069786

NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)

SNV
Germline

Chr2:240783109

Pathogenic/Likely pathogenic

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA351302716

rs_1553637932

2 SubmittersRCV000622710 RCV001860437

NM_014946.4(SPAST):c.1459A>G (p.Asn487Asp)

SNV
Germline

Chr2:32137154

Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502475

rs_1553318323

2 SubmittersRCV000624733 RCV003523004

NM_000533.5(PLP1):c.2T>G (p.Met1Arg)

SNV
Germline

ChrX:103776997

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA414101585

rs_864622194

4 SubmittersRCV000624524 RCV001805225 RCV004595519

NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)

SNV
Germline

Chr13:23335297

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910745

rs_201294520

4 SubmittersRCV000625698 RCV001439415 RCV001848999

NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile)

SNV
Germline

Chr8:17276454

Conflicting classifications of pathogenicity

Idiopathic transverse myelitis
Hereditary spastic paraplegia 53
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4643409

rs_150912414

6 SubmittersRCV000625725 RCV000650274 RCV001528188 RCV006459687

NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln)

SNV
Germline

Chr2:240758372

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351323373

rs_1195594601

5 SubmittersRCV000625782 RCV001855323 RCV003129946

NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)

SNV
Germline

Chr7:100106745

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50

Criteria Provided
Conflicting Classifications

CA4375034

rs_760907496

3 SubmittersRCV000625788

NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)

SNV
Germline

Chr1:228166129

Likely pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345106709

rs_1298056442

3 SubmittersRCV000626148 RCV002529780 RCV004721494

NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter)

SNV
Germline

Chr7:100105314

Pathogenic

Hereditary spastic paraplegia 50
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA4374799

rs_780030221

3 SubmittersRCV000626141 RCV001849421

NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)

SNV
Germline

Chr10:95606919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
de Barsy syndrome
Autosomal dominant spastic paraplegia type 9
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620102

rs_762271422

2 SubmittersRCV000626090 RCV003767836

NM_014946.4(SPAST):c.870+1G>A

SNV
Germline

Chr2:32114826

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346498942

rs_1553314978

3 SubmittersRCV000626923 RCV000688305 RCV006650312

NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr2:32116153

Pathogenic

Seizure
Fatigue
Abnormal myelination
Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346499670

rs_1553315329

5 SubmittersRCV000626921 RCV001090858 RCV001391497

NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)

SNV
Germline

Chr2:32064165

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346602318

rs_1553394603

3 SubmittersRCV000627250 RCV001243896

NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr13:23354940

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387547285

rs_923921184

4 SubmittersRCV000627327 RCV001065954 RCV001785684 RCV001849000

NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)

SNV
Germline

Chr1:113898739

Pathogenic

Hereditary spastic paraplegia 47
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA1015885

rs_374894037

6 SubmittersRCV000649277 RCV001849424

NM_001253852.3(AP4B1):c.898G>T (p.Val300Leu)

SNV
Germline

Chr1:113900120

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1015986

rs_111785152

2 SubmittersRCV000649279 RCV002311984

NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp)

SNV
Germline

Chr1:228166151

Conflicting classifications of pathogenicity

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1431107

rs_775646159

2 SubmittersRCV000651559 RCV003225108

NM_020919.4(ALS2):c.331G>A (p.Val111Ile)

SNV
Germline

Chr2:201761663

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
not specified
ALS2-related disorder
Hereditary spastic paraplegia
ALS2-related motor neuron disease

Criteria Provided
Conflicting Classifications

CA2058669

rs_61745503

5 SubmittersRCV001089250 RCV001137295 RCV001644727 RCV001137294 RCV001849016 RCV005357852

NM_001244008.2(KIF1A):c.4257-6C>T

SNV
Germline

Chr2:240724042

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658796216

rs_1440735433

2 SubmittersRCV000639780 RCV001310787

NM_001244008.2(KIF1A):c.3509G>A (p.Ser1170Asn)

SNV
Germline

Chr2:240744017

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207780

rs_776451256

3 SubmittersRCV000639777 RCV003987636 RCV005357851

NM_001244008.2(KIF1A):c.5334-4G>A

SNV
Germline

Chr2:240717410

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207090

rs_758806789

2 SubmittersRCV000639832 RCV002533244

NM_001244008.2(KIF1A):c.2403G>A (p.Gln801=)

SNV
Germline

Chr2:240760706

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208110

rs_770666285

3 SubmittersRCV000639830 RCV001141748 RCV002458045

NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu)

SNV
Germline

Chr2:240746147

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207904

rs_370378060

3 SubmittersRCV000639799 RCV002315961 RCV003133425

NM_001244008.2(KIF1A):c.1421+2T>A

SNV
Germline

Chr2:240769625

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351329743

rs_751051049

1 SubmittersRCV000639797

NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)

SNV
Germline

Chr2:240719886

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Inborn genetic diseases
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207251

rs_377032453

8 SubmittersRCV000639789 RCV000764393 RCV001143357 RCV001334235 RCV001811132 RCV002334103 RCV003338706

NM_001244008.2(KIF1A):c.4868+1G>C

SNV
Germline

Chr2:240720913

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351301390

rs_1553624714

1 SubmittersRCV000639772

NM_001244008.2(KIF1A):c.4120G>A (p.Glu1374Lys)

SNV
Germline

Chr2:240726828

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA68141126

rs_951775920

3 SubmittersRCV000639796 RCV002325243 RCV004720275

NM_001244008.2(KIF1A):c.3405C>T (p.Ser1135=)

SNV
Germline

Chr2:240745487

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207814

rs_374858877

3 SubmittersRCV000639822 RCV001143457 RCV004544847

NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg)

SNV
Germline

Chr2:240745878

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207860

rs_553976598

4 SubmittersRCV000639769 RCV001548564 RCV001836855 RCV002440272

NM_001244008.2(KIF1A):c.2116+1G>C

SNV
Germline

Chr2:240762718

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351325992

rs_1553633687

1 SubmittersRCV000639768

NM_014946.4(SPAST):c.156T>G (p.Tyr52Ter)

SNV
Germline

Chr2:32063987

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346601502

rs_1553394497

1 SubmittersRCV000644885

NM_014946.4(SPAST):c.1252G>T (p.Glu418Ter)

SNV
Germline

Chr2:32136569

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501839

rs_1553318164

1 SubmittersRCV000644890

NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)

SNV
Germline

Chr2:32126952

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501201

rs_1553316799

2 SubmittersRCV000644886

NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala)

SNV
Germline

Chr2:32137151

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502469

rs_1553318320

3 SubmittersRCV000644892 RCV002222579

NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)

SNV
Germline

Chr2:32154420

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346505617

rs_1553321237

4 SubmittersRCV000644898 RCV001508983

NM_014946.4(SPAST):c.444G>A (p.Trp148Ter)

SNV
Germline

Chr2:32087520

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346603151

rs_1553399493

3 SubmittersRCV000644900 RCV003420132

NM_014946.4(SPAST):c.1121C>T (p.Pro374Leu)

SNV
Germline

Chr2:32126970

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501238

rs_1471030618

1 SubmittersRCV000644887

NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)

SNV
Germline

Chr2:32136903

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502217

rs_1553318223

4 SubmittersRCV000644893

NM_014946.4(SPAST):c.1494G>C (p.Arg498Ser)

SNV
Germline

Chr2:32141904

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502816

rs_1553319075

1 SubmittersRCV000644884

NM_014946.4(SPAST):c.1573C>T (p.Gln525Ter)

SNV
Germline

Chr2:32143372

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346503744

rs_1553319296

2 SubmittersRCV000644903

NM_001371279.1(REEP1):c.353T>G (p.Leu118Arg)

SNV
Germline

Chr2:86252021

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347716180

rs_1553461156

1 SubmittersRCV000641691

NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)

SNV
Germline

Chr7:4785551

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4137557

rs_201196622

7 SubmittersRCV000648382 RCV001086303 RCV001283507 RCV001849028 RCV003928103

NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn)

SNV
Germline

Chr8:125056751

Conflicting classifications of pathogenicity

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4873676

rs_758919422

3 SubmittersRCV000638547 RCV001849013 RCV002528904

NM_015214.3(DDHD2):c.725G>A (p.Arg242His)

SNV
Germline

Chr8:38242262

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4716073

rs_767497993

3 SubmittersRCV000650281 RCV004972821

NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys)

SNV
Germline

Chr8:38253646

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4716413

rs_201656753

4 SubmittersRCV000650280 RCV001579907 RCV002531954

NM_015046.7(SETX):c.4979A>G (p.His1660Arg)

SNV
Germline

Chr9:132326619

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified

Criteria Provided
Conflicting Classifications

CA5297100

rs_371894414

6 SubmittersRCV000644814 RCV001849022 RCV002473088 RCV002334141 RCV003233772 RCV003233771 RCV006692442

NM_015046.7(SETX):c.2124T>C (p.Ser708=)

SNV
Germline

Chr9:132329474

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297662

rs_139236924

5 SubmittersRCV000644840 RCV001849023 RCV002422334 RCV003432685

NM_014363.6(SACS):c.12762C>T (p.Ser4254=)

SNV
Germline

Chr13:23331114

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910094

rs_11554397

11 SubmittersRCV000633091 RCV001114730 RCV001288701 RCV001571934 RCV001849009 RCV003935763

NM_014363.6(SACS):c.10305T>C (p.Ser3435=)

SNV
Germline

Chr13:23333571

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910469

rs_35670472

11 SubmittersRCV000633092 RCV001109204 RCV001288369 RCV001558026 RCV001849010 RCV003935764

NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)

SNV
Germline

Chr13:23339119

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911347

rs_201558584

8 SubmittersRCV000633040 RCV001111812 RCV001508703 RCV001849005 RCV005240357

NM_015915.5(ATL1):c.1041G>A (p.Met347Ile)

SNV
Germline

Chr14:50621893

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA389673664

rs_1555365512

2 SubmittersRCV000647936 RCV003483702

NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=)

SNV
Germline

Chr14:67755248

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239134

rs_372463199

4 SubmittersRCV000633066 RCV001288444 RCV001849008

NM_015915.5(ATL1):c.27C>G (p.Asn9Lys)

SNV
Germline

Chr14:50560292

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7180146

rs_752593199

3 SubmittersRCV000647933 RCV002440339 RCV005231230

NM_015915.5(ATL1):c.536C>A (p.Ser179Tyr)

SNV
Germline

Chr14:50593859

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389668085

rs_1555364149

2 SubmittersRCV000647934 RCV003480737

NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)

SNV
Germline

Chr14:50621876

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389673592

rs_1555365509

2 SubmittersRCV000647931

NM_144599.5(NIPA1):c.403G>A (p.Val135Met)

SNV
Germline

Chr15:22820398

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA7426096

rs_763295984

2 SubmittersRCV000640458

NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)

SNV
Germline

Chr15:44570592

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534137

rs_200283964

5 SubmittersRCV000642551 RCV001507875 RCV002467954 RCV002467955 RCV003243229

NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)

SNV
Germline

Chr15:44565909

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7533946

rs_200276333

9 SubmittersRCV000642530 RCV001507872 RCV002360574 RCV002467948 RCV002467949 RCV004748877

NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys)

SNV
Germline

Chr15:44584288

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7534419

rs_201254271

3 SubmittersRCV000642580 RCV002467966 RCV002467965

NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)

SNV
Germline

Chr15:44615544

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA7535116

rs_372906057

5 SubmittersRCV000642550 RCV002282282 RCV005000438 RCV005010624

NM_025137.4(SPG11):c.2066A>G (p.Glu689Gly)

SNV
Germline

Chr15:44628670

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Gastric cancer

Criteria Provided
Conflicting Classifications

CA7535364

rs_748241805

3 SubmittersRCV000642583 RCV004025645 RCV005900235

NM_025137.4(SPG11):c.7000-10T>G

SNV
Germline

Chr15:44564708

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658798318

rs_1419777882

2 SubmittersRCV000642598 RCV005000439

NM_025137.4(SPG11):c.6343+1G>T

SNV
Germline

Chr15:44572682

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392216998

rs_1555447432

1 SubmittersRCV000642571

NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)

SNV
Germline

Chr15:44595404

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534658

rs_747973076

5 SubmittersRCV000642552 RCV001508756 RCV002467957 RCV002467956 RCV002530011

NM_025137.4(SPG11):c.4410C>T (p.Leu1470=)

SNV
Germline

Chr15:44596107

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534698

rs_145579121

5 SubmittersRCV000642606 RCV001577156 RCV002331177

NM_025137.4(SPG11):c.36C>T (p.Ser12=)

SNV
Germline

Chr15:44663612

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535971

rs_368656047

4 SubmittersRCV000642597 RCV001662693 RCV002343287

NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)

SNV
Germline

Chr16:89553871

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Hereditary pancreatitis

Criteria Provided
Multiple Submitters
No Conflicts

CA8244506

rs_369503365

6 SubmittersRCV000640984 RCV004526729

NM_003119.4(SPG7):c.1151-8C>T

SNV
Germline

Chr16:89532455

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243975

rs_200402056

2 SubmittersRCV001849015 RCV002060744

NM_003119.4(SPG7):c.861+1G>T

SNV
Germline

Chr16:89529580

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397418835

rs_1412575396

1 SubmittersRCV000640981

NM_006612.6(KIF1C):c.339A>G (p.Pro113=)

SNV
Germline

Chr17:5001377

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318508

rs_142773987

3 SubmittersRCV000645369 RCV001849025 RCV005243320

NM_001166114.2(PNPLA6):c.3699+9G>A

SNV
Germline

Chr19:7559160

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140538

rs_201144113

3 SubmittersRCV000646163 RCV006438545

NM_001199753.2(CPT1C):c.2059C>G (p.Pro687Ala)

SNV
Germline

Chr19:49712775

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
CPT1C-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA9582404

rs_200190780

3 SubmittersRCV000653259 RCV003907915 RCV004025900

NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter)

SNV
Unknown

Chr15:44573601

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392218196

rs_771057519

1 SubmittersRCV000656403

NM_001010867.4(IBA57):c.286T>C (p.Tyr96His)

SNV
Germline

Chr1:228166102

Pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA1431096

rs_765926471

5 SubmittersRCV000656683 RCV004796264

NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)

SNV
Germline

Chr1:228166132

Pathogenic/Likely pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA38736636

rs_1053773776

6 SubmittersRCV000656684 RCV001309858 RCV005632581

NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)

SNV
Germline

Chr16:89532504

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397420759

rs_1373388852

6 SubmittersRCV000657638 RCV001855358

NM_014946.4(SPAST):c.1245+5G>A

SNV
Germline

Chr2:32128484

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA658821156

rs_1553317049

5 SubmittersRCV000658864 RCV001729680

NM_001244008.2(KIF1A):c.2494C>T (p.Pro832Ser)

SNV
Germline

Chr2:240758448

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Neuropathy, hereditary sensory and autonomic, type 2A
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208082

rs_757726053

4 SubmittersRCV000658904 RCV000805107 RCV002424560 RCV005392260

NM_015046.7(SETX):c.2502A>G (p.Gly834=)

SNV
Germline

Chr9:132329096

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297582

rs_762818441

7 SubmittersRCV000659130 RCV001473215 RCV001287952 RCV001849033 RCV002424561

NM_001164178.1(ENTPD1):c.52G>A (p.Glu18Lys)

SNV
Germline

Chr10:95755766

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Condition: not provided
Sarcoma
Clear cell carcinoma of kidney
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA5621247

rs_192954755

4 SubmittersRCV000660463 RCV001849034 RCV005901421 RCV005901420 RCV005901419

NM_015346.4(ZFYVE26):c.7416+2T>C

SNV
Unknown

Chr14:67751050

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390157635

rs_1555393005

1 SubmittersRCV000673325

NM_015346.4(ZFYVE26):c.6987-1G>A

SNV
Germline

Chr14:67754213

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390160033

rs_1555393393

2 SubmittersRCV000668085 RCV003750812

NM_015346.4(ZFYVE26):c.4798-1G>T

SNV
Unknown

Chr14:67777736

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390168976

rs_1555396303

1 SubmittersRCV000669054

NM_015346.4(ZFYVE26):c.3626+1G>C

SNV
Unknown

Chr14:67784333

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390171817

rs_1555397310

1 SubmittersRCV000670998

NM_015346.4(ZFYVE26):c.3139+2T>G

SNV
Germline

Chr14:67786112

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7240071

rs_767164213

3 SubmittersRCV000667647 RCV000816370

NM_015346.4(ZFYVE26):c.3020-2A>G

SNV
Germline

Chr14:67786235

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390173160

rs_1470672632

2 SubmittersRCV000671769 RCV002532112

NM_015346.4(ZFYVE26):c.2248+2T>C

SNV
Unknown

Chr14:67798012

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390174847

rs_1555399278

1 SubmittersRCV000674317

NM_015346.4(ZFYVE26):c.1017+1G>T

SNV
Germline

Chr14:67806544

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390160091

rs_1224762841

2 SubmittersRCV000668837 RCV001855508

NM_015346.4(ZFYVE26):c.274-2A>G

SNV
Germline

Chr14:67809291

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7240834

rs_769329153

3 SubmittersRCV000674973 RCV000807263

NM_015346.4(ZFYVE26):c.7371+1G>A

SNV
Unknown

Chr14:67752343

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390157975

rs_1555393181

1 SubmittersRCV000673366

NM_015346.4(ZFYVE26):c.5321-2A>G

SNV
Unknown

Chr14:67772212

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390167579

rs_1555395560

2 SubmittersRCV000673002

NM_015346.4(ZFYVE26):c.3524-2A>G

SNV
Germline

Chr14:67784438

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390172045

rs_1555397331

2 SubmittersRCV000672660 RCV003750815

NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)

SNV
Germline

Chr14:67794234

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA390174656

rs_941230062

4 SubmittersRCV000671734 RCV001855566

NM_015346.4(ZFYVE26):c.2333-1G>C

SNV
Unknown

Chr14:67794240

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA7240312

rs_746606852

1 SubmittersRCV000671378

NM_015346.4(ZFYVE26):c.1436-1G>A

SNV
Germline

Chr14:67802283

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA7240517

rs_545219731

2 SubmittersRCV000669956 RCV002532092

NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter)

SNV
Germline

Chr14:67807692

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7240764

rs_200832994

4 SubmittersRCV000672398 RCV000823623 RCV002532123

NM_015346.4(ZFYVE26):c.7188+1G>A

SNV
Germline

Chr14:67753706

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390159249

rs_1555393338

2 SubmittersRCV000668581 RCV002532076

NM_015346.4(ZFYVE26):c.7128+2T>A

SNV
Germline

Chr14:67754069

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA262812942

rs_1049504575

2 SubmittersRCV000666227 RCV001390237

NM_015346.4(ZFYVE26):c.5791-6G>A

SNV
Germline

Chr14:67766453

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239382

rs_771906344

7 SubmittersRCV000670827 RCV001267971 RCV001849039 RCV002531264

NM_015346.4(ZFYVE26):c.5485-2A>G

SNV
Germline

Chr14:67769732

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390167204

rs_1555395288

2 SubmittersRCV000674319

NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter)

SNV
Germline

Chr14:67775866

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390168056

rs_1214483973

2 SubmittersRCV000671652 RCV003588667

NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)

SNV
Germline

Chr14:67777729

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Atypical behavior
Intellectual disability
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7239659

rs_558285072

3 SubmittersRCV000665612 RCV000823096 RCV001730704

NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)

SNV
Germline

Chr13:23355608

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911990

rs_767435985

4 SubmittersRCV000673666 RCV001849042 RCV002060828

NM_015346.4(ZFYVE26):c.3139+1G>A

SNV
Germline

Chr14:67786113

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240072

rs_137907310

7 SubmittersRCV000664865 RCV001217814 RCV002225709 RCV002530639 RCV004017713

NM_015346.4(ZFYVE26):c.2554-2A>G

SNV
Germline

Chr14:67790775

Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390174189

rs_1186788102

2 SubmittersRCV000671376 RCV001379655

NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter)

SNV
Germline

Chr14:67798080

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390174996

rs_981804211

3 SubmittersRCV000668831 RCV003588664

NM_015346.4(ZFYVE26):c.363+2T>G

SNV
Unknown

Chr14:67809198

Likely pathogenic

Hereditary spastic paraplegia 15
Cervical cancer

No Assertion Criteria Provided

CA7240819

rs_760001730

2 SubmittersRCV000674974 RCV005901515

NM_015346.4(ZFYVE26):c.363+1G>A

SNV
Germline

Chr14:67809199

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA262813438

rs_935301743

3 SubmittersRCV000666565 RCV001868215 RCV001849037

NM_015346.4(ZFYVE26):c.5484+1G>T

SNV
Unknown

Chr14:67772046

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390167213

rs_1555395524

1 SubmittersRCV000666925

NM_015346.4(ZFYVE26):c.3020-1G>A

SNV
Unknown

Chr14:67786234

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390173158

rs_1555397638

1 SubmittersRCV000670210

NM_015346.4(ZFYVE26):c.2401+1G>T

SNV
Unknown

Chr14:67794170

Likely pathogenic

Hereditary spastic paraplegia 15

No Assertion Criteria Provided

CA390174519

rs_1555398778

1 SubmittersRCV000665760

NM_014946.4(SPAST):c.1375A>G (p.Arg459Gly)

SNV
Germline

Chr2:32136930

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA346502281

rs_1553318238

1 SubmittersRCV000677392

NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)

SNV
Germline

Chr12:57581950

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6653264

rs_146202502

7 SubmittersRCV000678471 RCV001539411 RCV002289954 RCV004639315

NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)

SNV
Germline

Chr7:100105526

Pathogenic

Hereditary spastic paraplegia 50
Condition: not provided
Intellectual disability
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA4374858

rs_369459721

8 SubmittersRCV000680158 RCV001008671 RCV001260899 RCV001849043 RCV001849426

NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)

SNV
Germline

Chr15:44565954

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
not specified

Criteria Provided
Conflicting Classifications

CA7533957

rs_371334506

4 SubmittersRCV000679859 RCV000806086 RCV002467985 RCV002467984 RCV005431870

NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)

SNV
Germline

Chr15:44589270

Pathogenic

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7534559

rs_368276916

4 SubmittersRCV000680108 RCV001855629 RCV002467986 RCV006252719

NM_002156.5(HSPD1):c.1381C>G (p.Gln461Glu)

SNV
Germline

Chr2:197488326

Pathogenic

Hereditary spastic paraplegia 13

No Assertion Criteria Provided

CA350198619

rs_775037805

1 SubmittersRCV000680223

NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter)

SNV
Germline

Chr4:107947417

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 56
See cases
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA3037141

rs_772400670

6 SubmittersRCV000681665 RCV002252212 RCV002531424

NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu)

SNV
Germline

Chr1:109627794

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA341557548

rs_746332433

4 SubmittersRCV000692141 RCV004586881 RCV004760714 RCV006302197

NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu)

SNV
Germline

Chr2:240719157

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207186

rs_549560429

4 SubmittersRCV000685275 RCV001849044 RCV003362888 RCV003432727

NM_001244008.2(KIF1A):c.4790C>T (p.Pro1597Leu)

SNV
Germline

Chr2:240720992

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207297

rs_374417779

4 SubmittersRCV000686332 RCV001136786 RCV001766464

NM_001244008.2(KIF1A):c.4319-2A>G

SNV
Germline

Chr2:240723560

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351305764

rs_1559477798

1 SubmittersRCV000696128

NM_014946.4(SPAST):c.1451G>A (p.Gly484Asp)

SNV
Germline

Chr2:32137146

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502459

rs_1558337098

1 SubmittersRCV000687432

NM_014946.4(SPAST):c.1537-11A>G

SNV
Germline

Chr2:32143325

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA44754944

rs_549538513

2 SubmittersRCV000685954

NM_014946.4(SPAST):c.1729-2A>G

SNV
Germline

Chr2:32154372

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346505490

rs_1553321194

1 SubmittersRCV000699506

NM_001244008.2(KIF1A):c.3826C>T (p.Arg1276Ter)

SNV
Germline

Chr2:240740133

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
KIF1A-related disorder
Neuropathy, hereditary sensory, type 2C
Spastic paraplegia 30A, autosomal dominant
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207618

rs_368078424

8 SubmittersRCV000698692 RCV003442041 RCV004527747 RCV006454700 RCV006694836 RCV003986053

NM_001244008.2(KIF1A):c.3721G>A (p.Glu1241Lys)

SNV
Germline

Chr2:240741297

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2207692

rs_770190085

4 SubmittersRCV000696930 RCV001771971 RCV003243263 RCV006692582

NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met)

SNV
Germline

Chr2:240763268

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208264

rs_370071963

5 SubmittersRCV000694998 RCV000997712 RCV001849060 RCV002406593

NM_001244008.2(KIF1A):c.1276G>A (p.Val426Met)

SNV
Germline

Chr2:240771036

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208459

rs_531522772

3 SubmittersRCV000686526 RCV001562639

NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)

SNV
Germline

Chr2:240783788

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351303215

rs_1559526692

1 SubmittersRCV000703669

NM_001244008.2(KIF1A):c.699G>C (p.Glu233Asp)

SNV
Germline

Chr2:240785010

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208702

rs_373882732

3 SubmittersRCV000695006 RCV002369880 RCV004721558

NM_014946.4(SPAST):c.1258G>C (p.Glu420Gln)

SNV
Germline

Chr2:32136575

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501860

rs_1558336551

1 SubmittersRCV000699128

NM_014946.4(SPAST):c.1494-2A>G

SNV
Germline

Chr2:32141902

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502811

rs_1218081251

1 SubmittersRCV000689805

NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile)

SNV
Germline

Chr2:32144969

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA346504222

rs_1553319537

3 SubmittersRCV000689829 RCV001391566

NM_014946.4(SPAST):c.1666G>C (p.Ala556Pro)

SNV
Germline

Chr2:32144986

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346504258

rs_1558341948

2 SubmittersRCV000686016 RCV005415586

NM_014946.4(SPAST):c.1728+1G>A

SNV
Germline

Chr2:32147259

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346504399

rs_587777754

5 SubmittersRCV000686758 RCV003332228

NM_001371279.1(REEP1):c.371G>A (p.Arg124Gln)

SNV
Germline

Chr2:86252003

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1748764

rs_757087677

2 SubmittersRCV000701587 RCV002343537

NM_006070.6(TFG):c.310T>C (p.Tyr104His)

SNV
Germline

Chr3:100728753

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2517046

rs_775608477

3 SubmittersRCV000707180 RCV004526019 RCV005286195

NM_001244008.2(KIF1A):c.4306G>A (p.Ala1436Thr)

SNV
Germline

Chr2:240723987

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207431

rs_200126737

5 SubmittersRCV000685496 RCV001139023 RCV001849045 RCV001662748 RCV002331325

NM_001244008.2(KIF1A):c.1139G>C (p.Arg380Pro)

SNV
Germline

Chr2:240773155

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA68128649

rs_759791775

2 SubmittersRCV000696460 RCV002468600

NM_001244008.2(KIF1A):c.1138C>T (p.Arg380Trp)

SNV
Germline

Chr2:240773156

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208536

rs_545501989

3 SubmittersRCV000707443 RCV001251226 RCV002325437

NM_001244008.2(KIF1A):c.609-1G>A

SNV
Germline

Chr2:240785101

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351305061

rs_1559527796

1 SubmittersRCV000696483

NM_014946.4(SPAST):c.179G>A (p.Gly60Asp)

SNV
Germline

Chr2:32064010

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346601594

rs_1558605758

2 SubmittersRCV000688664 RCV001766473

NM_014946.4(SPAST):c.1139T>C (p.Leu380Pro)

SNV
Germline

Chr2:32126988

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501275

rs_1553316819

1 SubmittersRCV000686755

NM_014946.4(SPAST):c.1617-1G>A

SNV
Germline

Chr2:32144936

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504147

rs_1553319526

1 SubmittersRCV000696816

NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln)

SNV
Germline

Chr2:240719070

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207165

rs_760970824

3 SubmittersRCV000685176 RCV002334247 RCV005641778

NM_001244008.2(KIF1A):c.4513G>A (p.Ala1505Thr)

SNV
Germline

Chr2:240722608

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA68137773

rs_915433180

3 SubmittersRCV000693211 RCV001580537 RCV002334303

NM_001244008.2(KIF1A):c.4229G>T (p.Gly1410Val)

SNV
Germline

Chr2:240725298

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207460

rs_754172009

2 SubmittersRCV000704569 RCV002332500

NM_001244008.2(KIF1A):c.3671G>A (p.Arg1224Gln)

SNV
Germline

Chr2:240741347

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207705

rs_375993206

3 SubmittersRCV000698066 RCV001576489 RCV002458268

NM_001244008.2(KIF1A):c.1954C>T (p.Gln652Ter)

SNV
Germline

Chr2:240763087

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA2208230

rs_748477031

1 SubmittersRCV000689516

NM_014946.4(SPAST):c.1261A>G (p.Lys421Glu)

SNV
Germline

Chr2:32136578

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501871

rs_1558336556

1 SubmittersRCV000692625

NM_014946.4(SPAST):c.1374T>G (p.Ser458Arg)

SNV
Germline

Chr2:32136929

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502280

rs_1036039694

1 SubmittersRCV000693187

NM_014946.4(SPAST):c.1457C>T (p.Thr486Ile)

SNV
Germline

Chr2:32137152

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502471

rs_1558337122

2 SubmittersRCV000701279

NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter)

SNV
Germline

Chr7:4784287

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA153021423

rs_988434253

1 SubmittersRCV000701450

NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)

SNV
Germline

Chr4:107949437

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 56
Condition: not provided
Hereditary spastic paraplegia
CYP2U1-related disorder

Criteria Provided
Conflicting Classifications

CA3037191

rs_747965749

8 SubmittersRCV000692719 RCV001391446 RCV001570056 RCV001849057 RCV004799666

NM_014846.4(WASHC5):c.2769C>T (p.Val923=)

SNV
Germline

Chr8:125043993

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4873449

rs_545318648

3 SubmittersRCV002533727 RCV006440038

NM_006070.6(TFG):c.1199G>A (p.Arg400Gln)

SNV
Germline

Chr3:100748527

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
not specified

Criteria Provided
Conflicting Classifications

CA353854844

rs_963151000

2 SubmittersRCV000704956 RCV006692607

NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)

SNV
Germline

Chr8:125081668

Pathogenic

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

CA372266874

rs_1462319941

1 SubmittersRCV002233667

NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)

SNV
Germline

Chr8:125059239

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA372191709

rs_761801345

2 SubmittersRCV001391385 RCV002233288

NM_014846.4(WASHC5):c.1151-2A>G

SNV
Germline

Chr8:125067721

Likely pathogenic

Ritscher-Schinzel syndrome 1
Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

CA372193990

rs_1563627853

1 SubmittersRCV000691473

NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)

SNV
Germline

Chr8:125078767

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4874051

rs_754463353

3 SubmittersRCV000707560 RCV004768601

NM_015214.3(DDHD2):c.1248+2T>C

SNV
Germline

Chr8:38247837

Likely pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA4716188

rs_753950471

2 SubmittersRCV000707219

NM_014363.6(SACS):c.2776A>G (p.Ile926Val)

SNV
Germline

Chr13:23341100

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911627

rs_144362131

7 SubmittersRCV001111915 RCV001257223 RCV001849073 RCV004997239

NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)

SNV
Germline

Chr11:62705346

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6053617

rs_370905417

5 SubmittersRCV000690113 RCV002485632 RCV002397389 RCV005054247 RCV005431878

NM_001351169.2(NT5C2):c.1272+1G>C

SNV
Germline

Chr10:103090935

Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA377969274

rs_1430860231

1 SubmittersRCV000702998

NM_004722.4(AP4M1):c.929+5G>A

SNV
Germline

Chr7:100105544

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA456713388

rs_1293317548

4 SubmittersRCV000698080 RCV001544899 RCV001849064

NM_015915.5(ATL1):c.572A>G (p.Gln191Arg)

SNV
Germline

Chr14:50593895

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389668280

rs_1566725003

1 SubmittersRCV000698465

NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)

SNV
Germline

Chr15:44563204

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7533841

rs_371313584

4 SubmittersRCV000685566 RCV001584551 RCV002369821 RCV002467995 RCV002467996

NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)

SNV
Germline

Chr15:44657201

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7535727

rs_139091750

6 SubmittersRCV000696904 RCV001799700 RCV002468012 RCV002468013 RCV002388274 RCV006701631

NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val)

SNV
Germline

Chr15:50958637

Conflicting classifications of pathogenicity

Spastic paraplegia
Neurodevelopmental delay
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA7559138

rs_142762839

6 SubmittersRCV000688668 RCV000856698 RCV001849053 RCV003389827 RCV004026301 RCV005901638

NM_014363.6(SACS):c.9551G>A (p.Arg3184His)

SNV
Germline

Chr13:23334325

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910605

rs_200453385

4 SubmittersRCV000689777 RCV001829908 RCV001849054 RCV004958003

NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)

SNV
Germline

Chr8:125055601

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Multiple Submitters
No Conflicts

CA372190112

rs_397515564

2 SubmittersRCV001391387 RCV002232914

NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)

SNV
Germline

Chr8:125067692

Conflicting classifications of pathogenicity

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4873900

rs_151298198

6 SubmittersRCV000685841 RCV001163529 RCV001574559 RCV002544726

NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)

SNV
Germline

Chr15:44584410

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
not specified

Criteria Provided
Conflicting Classifications

CA7534436

rs_139423939

6 SubmittersRCV000686533 RCV000995317 RCV002467999 RCV002343435 RCV002468000 RCV006452838

NM_020944.3(GBA2):c.959G>A (p.Arg320Gln)

SNV
Germline

Chr9:35740892

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 46
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5050574

rs_368192956

5 SubmittersRCV000699228 RCV001336005 RCV001849065 RCV005562442 RCV006278029

NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)

SNV
Germline

Chr15:44574939

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534300

rs_199920965

5 SubmittersRCV000685460 RCV002352108 RCV002493138 RCV004768553

NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)

SNV
Germline

Chr15:44584209

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534402

rs_752401008

7 SubmittersRCV000692442 RCV000765211 RCV002468006 RCV002468005 RCV003223668

NM_025137.4(SPG11):c.4365G>A (p.Trp1455Ter)

SNV
Germline

Chr15:44596152

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392227558

rs_138103656

1 SubmittersRCV000690204

NM_003119.4(SPG7):c.1553-2A>G

SNV
Germline

Chr16:89548001

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397427369

rs_1229749476

3 SubmittersRCV000698570 RCV001091057

NM_002361.4(MAG):c.1719C>T (p.Ser573=)

SNV
Germline

Chr19:35313292

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 75
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9376404

rs_201985838

2 SubmittersRCV000688761 RCV004692098

NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)

SNV
Germline

Chr15:44567580

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Early-onset Parkinson disease 20
Charcot-Marie-Tooth disease axonal type 2X
SPG11-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7534064

rs_141263564

10 SubmittersRCV000694024 RCV001849059 RCV003883160 RCV003447554 RCV004768574 RCV003411614 RCV004792389

NM_025137.4(SPG11):c.6418C>T (p.Gln2140Ter)

SNV
Germline

Chr15:44570584

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392216356

rs_1567129475

2 SubmittersRCV000688949 RCV004719948

NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala)

SNV
Germline

Chr19:7555609

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140284

rs_201902695

6 SubmittersRCV000705033 RCV001592904

NM_003119.4(SPG7):c.338A>G (p.Lys113Arg)

SNV
Germline

Chr16:89512999

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8243526

rs_771130240

2 SubmittersRCV000695759 RCV004025252

NM_003119.4(SPG7):c.1420C>T (p.His474Tyr)

SNV
Germline

Chr16:89544743

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397425404

rs_1567926386

2 SubmittersRCV000686569

NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)

SNV
Germline

Chr16:74774623

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided

Criteria Provided
Conflicting Classifications

CA396768351

rs_1247665387

3 SubmittersRCV000708595 RCV005054256

NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser)

SNV
Germline

Chr2:240721856

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207346

rs_755380517

2 SubmittersRCV000712149 RCV001868325

NM_001244008.2(KIF1A):c.3759G>A (p.Pro1253=)

SNV
Germline

Chr2:240740355

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Spastic paraplegia, autosomal dominant
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207655

rs_777751073

4 SubmittersRCV000712148 RCV001861969 RCV002343586 RCV005863260

NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser)

SNV
Germline

Chr2:240745816

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351318062

rs_1288885072

3 SubmittersRCV000712146 RCV001369098

NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)

SNV
Germline

Chr2:32114701

Pathogenic

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498458

rs_1553314902

5 SubmittersRCV000713472 RCV001849079 RCV002532955

NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)

SNV
Germline

Chr2:32128408

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346501360

rs_1558331867

5 SubmittersRCV000713459 RCV001726320

NM_014946.4(SPAST):c.1223C>T (p.Ala408Val)

SNV
Germline

Chr2:32128457

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346501472

rs_1553317043

2 SubmittersRCV000713460 RCV001209308

NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu)

SNV
Germline

Chr2:32141936

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346502956

rs_1443578852

4 SubmittersRCV000713468 RCV000790426

NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)

SNV
Germline

Chr8:64596914

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA4764006

rs_367916692

5 SubmittersRCV000713475 RCV001391409 RCV001861991

NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)

SNV
Germline

Chr9:132327633

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297296

rs_144900653

7 SubmittersRCV000713211 RCV001210286 RCV001849075 RCV002369984 RCV004544961

NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)

SNV
Germline

Chr13:23338891

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Hereditary spastic paraplegia
Condition: not provided
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911313

rs_139387396

6 SubmittersRCV001086156 RCV001644779 RCV001849074 RCV002245624 RCV003907976

NM_014363.6(SACS):c.2580A>G (p.Gln860=)

SNV
Germline

Chr13:23341296

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911665

rs_41283958

12 SubmittersRCV000712969 RCV000765125 RCV001087176 RCV001849072 RCV005418322

NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)

SNV
Germline

Chr15:44585664

Pathogenic

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392223328

rs_1462607878

5 SubmittersRCV000713419 RCV001849077 RCV001861990

NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile)

SNV
Germline

Chr19:7542043

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39
Inborn genetic diseases
Laurence-Moon syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139720

rs_369465821

5 SubmittersRCV000712779 RCV001056230 RCV004026821 RCV005357963

NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr)

SNV
Germline

Chr19:7542665

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139778

rs_761591000

3 SubmittersRCV000712780 RCV001083172

NM_001166114.2(PNPLA6):c.3627C>G (p.Ser1209=)

SNV
Germline

Chr19:7559079

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA505245052

rs_1568423844

2 SubmittersRCV000712782 RCV002532937

NM_006567.5(FARS2):c.476A>C (p.His159Pro)

SNV
Germline

Chr6:5369046

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77

Criteria Provided
Conflicting Classifications

CA362735365

rs_1561990390

1 SubmittersRCV000714919 RCV000714941

NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)

SNV
Germline

Chr1:113895991

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1015755

rs_200276550

5 SubmittersRCV001862068 RCV002316774

NM_001244008.2(KIF1A):c.1596C>T (p.Gly532=)

SNV
Germline

Chr2:240767003

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208330

rs_754916421

4 SubmittersRCV000877114 RCV001143566 RCV001557831 RCV002316133

NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp)

SNV
Germline

Chr2:240717372

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207084

rs_375509312

6 SubmittersRCV000808753 RCV001849082 RCV002314463 RCV003133576

NM_001244008.2(KIF1A):c.3617G>A (p.Arg1206Gln)

SNV
Germline

Chr2:240742952

Conflicting classifications of pathogenicity

History of neurodevelopmental disorder
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207729

rs_369849214

3 SubmittersRCV000716756 RCV001038758 RCV001662788

NM_001244008.2(KIF1A):c.2934C>T (p.Gly978=)

SNV
Germline

Chr2:240750472

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207980

rs_751977290

4 SubmittersRCV000757423 RCV001087246 RCV002318844

NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)

SNV
Germline

Chr2:240745824

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
not specified
Inborn genetic diseases
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207847

rs_542427011

6 SubmittersRCV000958638 RCV001849083 RCV001816781 RCV002318697 RCV002275153 RCV004737977

NM_006459.4(ERLIN1):c.195+3G>A

SNV
Germline

Chr10:100183753

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 62
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5646143

rs_201208911

4 SubmittersRCV000732077 RCV000821358 RCV001849088

NM_001371279.1(REEP1):c.231G>A (p.Leu77=)

SNV
Germline

Chr2:86254766

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 31

Criteria Provided
Conflicting Classifications

CA1748794

rs_139808535

4 SubmittersRCV000732935 RCV001084794

NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)

SNV
Germline

Chr19:29702977

Pathogenic/Likely pathogenic

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43
Condition: not provided
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA9351931

rs_752450983

6 SubmittersRCV000754614 RCV000821485 RCV001544960 RCV002271579

NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr)

SNV
Germline

Chr16:74716452

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA396769044

rs_1274600570

1 SubmittersRCV000786060

NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)

SNV
Germline

Chr16:74716476

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA396769092

rs_1567632441

1 SubmittersRCV000786061

NM_003119.4(SPG7):c.2104-2A>G

SNV
Germline

Chr16:89554484

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397434570

rs_1567934754

2 SubmittersRCV000786074

NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)

SNV
Germline

Chr9:132326547

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297080

rs_140116005

9 SubmittersRCV000757760 RCV001047649 RCV001849091 RCV002343608

NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)

SNV
Germline

Chr11:62691351

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C
BSCL2-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6053405

rs_754683462

6 SubmittersRCV000755880 RCV001071687 RCV003166002 RCV002493373 RCV004754555 RCV005626194

NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter)

SNV
Germline

Chr1:109626416

Pathogenic/Likely pathogenic

Condition: not provided
Pontocerebellar hypoplasia type 9
Pontoneocerebellar hypoplasia
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9

Criteria Provided
Multiple Submitters
No Conflicts

CA992820

rs_753591864

5 SubmittersRCV000760709 RCV001784371 RCV005056507 RCV006556620

NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)

SNV
Germline

Chr15:44570593

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
See cases
Amyotrophic lateral sclerosis type 5
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7534139

rs_769898852

8 SubmittersRCV000760765 RCV001198712 RCV002287441 RCV004788159 RCV005012290

NM_015161.3(ARL6IP1):c.346C>T (p.Arg116Ter)

SNV
Germline

Chr16:18795526

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 61
ARL6IP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7929484

rs_750623911

4 SubmittersRCV000760563 RCV002533839 RCV004758727

NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter)

SNV
Germline

Chr2:86263965

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 31

Criteria Provided
Multiple Submitters
No Conflicts

CA347719879

rs_1558898568

5 SubmittersRCV000760593 RCV001855928

NM_014946.4(SPAST):c.1666G>A (p.Ala556Thr)

SNV
Germline

Chr2:32144986

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504257

rs_1558341948

1 SubmittersRCV000761357

NM_003119.4(SPG7):c.861+1G>C

SNV
Germline

Chr16:89529580

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397418836

rs_1412575396

5 SubmittersRCV000761358 RCV004792432

NM_024306.5(FA2H):c.207C>G (p.His69Gln)

SNV
Germline

Chr16:74774549

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA283769920

rs_997310209

1 SubmittersRCV000761510

NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)

SNV
Germline

Chr1:113895992

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 47
AP4B1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1015756

rs_529495094

9 SubmittersRCV000761677 RCV001849437 RCV001855943 RCV003413550

NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln)

SNV
Germline

Chr2:240722601

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207395

rs_750045020

3 SubmittersRCV000762332 RCV000820696 RCV002334428

NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)

SNV
Germline

Chr13:23332810

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910344

rs_148925505

7 SubmittersRCV000761851 RCV001111443 RCV001241078 RCV001849092

NM_015214.3(DDHD2):c.694C>T (p.Arg232Ter)

SNV
Germline

Chr8:38240346

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA370717859

rs_1249841130

2 SubmittersRCV000784989

NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys)

SNV
Germline

Chr18:45063678

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8946177

rs_759235645

2 SubmittersRCV000784992 RCV002068543

NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln)

SNV
Germline

Chr4:107950251

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 56
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA3037213

rs_762873672

2 SubmittersRCV000785945 RCV003750822

NM_007347.5(AP4E1):c.1317-2A>C

SNV
Germline

Chr15:50949824

Likely pathogenic

Hereditary spastic paraplegia 51

Criteria Provided
Single Submitter

CA392417650

rs_1567230528

1 SubmittersRCV000785899

NM_014946.4(SPAST):c.1174-1G>A

SNV
Germline

Chr2:32128407

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501358

rs_1553317024

3 SubmittersRCV000787278

NM_020944.3(GBA2):c.518G>A (p.Trp173Ter)

SNV
Germline

Chr9:35744346

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

CA373419027

rs_1588022768

2 SubmittersRCV000790866

NM_020944.3(GBA2):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr9:35744703

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

CA373419691

rs_1588023668

2 SubmittersRCV000790865

NM_015214.3(DDHD2):c.334C>T (p.Arg112Ter)

SNV
Germline

Chr8:38234507

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

CA4715939

rs_755267771

1 SubmittersRCV000790938

NM_001010867.4(IBA57):c.11C>T (p.Ala4Val)

SNV
Germline

Chr1:228165827

Conflicting classifications of pathogenicity

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1431049

rs_199781237

6 SubmittersRCV000807128 RCV001726334 RCV002537243

NM_001244008.2(KIF1A):c.5027T>C (p.Ile1676Thr)

SNV
Germline

Chr2:240719193

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207192

rs_372664825

2 SubmittersRCV000798232 RCV003457804

NM_001244008.2(KIF1A):c.4981C>T (p.Gln1661Ter)

SNV
Germline

Chr2:240719814

Pathogenic

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351300220

rs_1575514086

1 SubmittersRCV000823153

NM_001244008.2(KIF1A):c.4820C>T (p.Ser1607Phe)

SNV
Germline

Chr2:240720962

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207290

rs_768366163

3 SubmittersRCV000812399 RCV002336674 RCV003442104

NM_001244008.2(KIF1A):c.4660G>A (p.Val1554Ile)

SNV
Germline

Chr2:240722461

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207369

rs_567408550

4 SubmittersRCV000809324 RCV002336657 RCV003106071

NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln)

SNV
Germline

Chr2:240722623

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207399

rs_376432305

7 SubmittersRCV000793420 RCV001000675 RCV001310786 RCV002332590 RCV005392395

NM_001244008.2(KIF1A):c.4307C>T (p.Ala1436Val)

SNV
Germline

Chr2:240723986

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207430

rs_375688061

4 SubmittersRCV000796168 RCV001849101 RCV004792479

NM_001244008.2(KIF1A):c.3887G>A (p.Arg1296His)

SNV
Germline

Chr2:240740072

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207607

rs_371517661

4 SubmittersRCV000819865 RCV001849120 RCV001310788

NM_001244008.2(KIF1A):c.2350C>T (p.Arg784Ter)

SNV
Germline

Chr2:240760759

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA351324873

rs_1327297188

3 SubmittersRCV000823204 RCV000997711 RCV005438038

NM_001244008.2(KIF1A):c.2292G>A (p.Thr764=)

SNV
Germline

Chr2:240760817

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208133

rs_773940730

2 SubmittersRCV000795323 RCV006450345

NM_001244008.2(KIF1A):c.2147C>T (p.Ala716Val)

SNV
Germline

Chr2:240761347

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208171

rs_555749038

2 SubmittersRCV000823375 RCV002427070

NM_001244008.2(KIF1A):c.1265G>A (p.Arg422His)

SNV
Germline

Chr2:240771047

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208466

rs_771678168

2 SubmittersRCV000814028 RCV002442726

NM_001244008.2(KIF1A):c.799G>C (p.Glu267Gln)

SNV
Germline

Chr2:240783109

Pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351302715

rs_1553637932

1 SubmittersRCV000799366

NM_001244008.2(KIF1A):c.737T>G (p.Leu246Arg)

SNV
Germline

Chr2:240783800

Pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351303351

rs_1575626071

1 SubmittersRCV000801438

NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)

SNV
Germline

Chr2:240797721

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided
Spastic paraplegia 30B, autosomal recessive
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Multiple Submitters
No Conflicts

CA351315977

rs_1575654528

10 SubmittersRCV000810861 RCV001251221 RCV001332405 RCV003106073 RCV005409747

NM_014946.4(SPAST):c.443G>A (p.Trp148Ter)

SNV
Germline

Chr2:32087519

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346603147

rs_1573068995

1 SubmittersRCV000796148

NM_014946.4(SPAST):c.1151C>T (p.Pro384Leu)

SNV
Germline

Chr2:32127000

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346501303

rs_1573139616

2 SubmittersRCV000817235 RCV006275040

NM_014946.4(SPAST):c.1220G>A (p.Ser407Asn)

SNV
Germline

Chr2:32128454

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346501463

rs_1573142616

2 SubmittersRCV000823946 RCV003442117

NM_014946.4(SPAST):c.1238C>T (p.Ser413Leu)

SNV
Germline

Chr2:32128472

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501504

rs_1553317045

1 SubmittersRCV000799219

NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)

SNV
Germline

Chr2:32136569

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346501837

rs_1553318164

4 SubmittersRCV000819752 RCV001772134

NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)

SNV
Germline

Chr2:32136915

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502245

rs_1553318230

4 SubmittersRCV000823324

NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile)

SNV
Germline

Chr4:107944996

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA3037022

rs_374109524

2 SubmittersRCV000809394 RCV001849112

NM_006567.5(FARS2):c.1057A>C (p.Lys353Gln)

SNV
Germline

Chr6:5545332

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 14
Hereditary spastic paraplegia 77
Inborn genetic diseases
FARS2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3623859

rs_762302341

5 SubmittersRCV000793798 RCV001329582 RCV003258971 RCV004751704 RCV004794456

NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala)

SNV
Germline

Chr7:4784955

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137417

rs_554060393

2 SubmittersRCV000808473 RCV002537288

NM_014855.3(AP5Z1):c.841T>A (p.Ser281Thr)

SNV
Germline

Chr7:4784958

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137419

rs_765690642

3 SubmittersRCV000800952 RCV002534664

NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys)

SNV
Germline

Chr7:4785624

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137587

rs_551568063

5 SubmittersRCV000791496 RCV002261204 RCV003338793

NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)

SNV
Germline

Chr7:4785684

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4137612

rs_777093701

6 SubmittersRCV000808499 RCV001664426 RCV001849111

NM_015214.3(DDHD2):c.420C>A (p.Tyr140Ter)

SNV
Germline

Chr8:38237546

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA175111880

rs_939799061

2 SubmittersRCV000809392

NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg)

SNV
Germline

Chr8:64604713

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A

Criteria Provided
Conflicting Classifications

CA371334056

rs_1467815062

2 SubmittersRCV000793799 RCV003320370

NM_004820.5(CYP7B1):c.854A>T (p.His285Leu)

SNV
Germline

Chr8:64615229

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3

Criteria Provided
Conflicting Classifications

CA4764124

rs_750781606

4 SubmittersRCV000796326 RCV003320371 RCV005418351 RCV005863275

NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala)

SNV
Germline

Chr11:62702494

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia 17
Neuronopathy, distal hereditary motor, type 5C

Criteria Provided
Conflicting Classifications

CA380968396

rs_1590881633

2 SubmittersRCV000797348 RCV005409744

NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)

SNV
Germline

Chr12:57581089

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
KIF5A-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6653171

rs_767911747

6 SubmittersRCV000802776 RCV001113505 RCV004549879 RCV004028120 RCV004723208

NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)

SNV
Germline

Chr13:23338508

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911255

rs_147517201

3 SubmittersRCV000821085 RCV001276943 RCV001849125

NM_014844.5(TECPR2):c.1255G>A (p.Gly419Ser)

SNV
Germline

Chr14:102431966

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7357677

rs_779431365

3 SubmittersRCV000824257 RCV004669146

NM_015915.5(ATL1):c.1048G>A (p.Ala350Thr)

SNV
Germline

Chr14:50623177

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389674098

rs_1595621292

1 SubmittersRCV000810038

NM_015915.5(ATL1):c.1068T>A (p.Asn356Lys)

SNV
Germline

Chr14:50623197

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389674145

rs_1595621335

1 SubmittersRCV000793809

NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)

SNV
Germline

Chr14:50628071

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389675454

rs_1595625010

3 SubmittersRCV000816079 RCV001547425

NM_015915.5(ATL1):c.1488C>A (p.Tyr496Ter)

SNV
Germline

Chr14:50628399

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389676397

rs_779304953

1 SubmittersRCV000793973

NM_015346.4(ZFYVE26):c.894G>A (p.Pro298=)

SNV
Germline

Chr14:67806668

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA7240663

rs_34082929

3 SubmittersRCV000805336 RCV001115293 RCV005902005

NM_025137.4(SPG11):c.6724C>T (p.Gln2242Ter)

SNV
Germline

Chr15:44567454

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA270059929

rs_866400911

1 SubmittersRCV000807733

NM_025137.4(SPG11):c.6062G>A (p.Arg2021Gln)

SNV
Germline

Chr15:44573690

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534267

rs_375420533

3 SubmittersRCV000816342 RCV004693367

NM_025137.4(SPG11):c.5764G>C (p.Ala1922Pro)

SNV
Germline

Chr15:44583916

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534354

rs_147999915

3 SubmittersRCV000798025 RCV005278661 RCV005411566

NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)

SNV
Germline

Chr15:44595458

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7534664

rs_374303102

5 SubmittersRCV000811250 RCV001597216 RCV002468060 RCV002468061 RCV002538091 RCV005418360

NM_025137.4(SPG11):c.4093T>C (p.Cys1365Arg)

SNV
Germline

Chr15:44596852

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534763

rs_144695607

2 SubmittersRCV000792830 RCV004997318

NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)

SNV
Germline

Chr15:44598714

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA392230098

rs_1555451521

4 SubmittersRCV000818278 RCV002249527 RCV005240614

NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter)

SNV
Germline

Chr15:44613454

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535063

rs_771813705

2 SubmittersRCV000792523

NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)

SNV
Germline

Chr15:44629349

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
not specified

Criteria Provided
Conflicting Classifications

CA7535440

rs_373796566

6 SubmittersRCV000811249 RCV001593001 RCV002397668 RCV002468059 RCV002468058 RCV005418359

NM_025137.4(SPG11):c.1562A>G (p.Asn521Ser)

SNV
Germline

Chr15:44648906

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Cervical cancer

Criteria Provided
Conflicting Classifications

CA7535525

rs_143528472

3 SubmittersRCV000797041 RCV002537036 RCV005901972

NM_025137.4(SPG11):c.1433A>G (p.Gln478Arg)

SNV
Germline

Chr15:44651514

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535561

rs_142428867

4 SubmittersRCV000801269 RCV002388482 RCV003225125

NM_025137.4(SPG11):c.925G>T (p.Gly309Ter)

SNV
Germline

Chr15:44652211

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392236986

rs_760659950

1 SubmittersRCV000824220

NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)

SNV
Germline

Chr16:89508503

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397415957

rs_1314660313

4 SubmittersRCV000800813 RCV001662829

NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)

SNV
Germline

Chr16:89531964

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8243924

rs_199789849

9 SubmittersRCV000996407 RCV000810013 RCV002537324

NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)

SNV
Germline

Chr16:89544732

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286560203

rs_756535079

6 SubmittersRCV000798580 RCV002537998 RCV003323725 RCV004792484

NM_002361.4(MAG):c.328G>T (p.Glu110Ter)

SNV
Germline

Chr19:35295894

Pathogenic

Hereditary spastic paraplegia 75

Criteria Provided
Single Submitter

CA405305634

rs_770788013

1 SubmittersRCV000814586

NM_002361.4(MAG):c.1058C>T (p.Pro353Leu)

SNV
Germline

Chr19:35302535

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 75

Criteria Provided
Conflicting Classifications

CA9376166

rs_778356275

2 SubmittersRCV000810562

NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)

SNV
Germline

Chr19:45485716

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9515886

rs_201387324

5 SubmittersRCV000808954 RCV001287904 RCV001131935 RCV004028654

NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu)

SNV
Germline

Chr19:7555355

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA403130971

rs_1599305317

2 SubmittersRCV000812187

NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp)

SNV
Germline

Chr19:7558969

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome

Criteria Provided
Conflicting Classifications

CA9140502

rs_766389806

4 SubmittersRCV000814583 RCV003153854 RCV006545536

NM_000533.5(PLP1):c.489G>A (p.Trp163Ter)

SNV
Germline

ChrX:103787833

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414103662

rs_1602384101

1 SubmittersRCV000795658

NM_014946.4(SPAST):c.1005-1G>A

SNV
Germline

Chr2:32116118

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499578

rs_1553315318

1 SubmittersRCV000806119

NM_014946.4(SPAST):c.1688-1G>A

SNV
Germline

Chr2:32147217

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346504301

rs_1573174147

3 SubmittersRCV000804703 RCV002473146 RCV005901997

NM_001244008.2(KIF1A):c.3584+6C>T

SNV
Germline

Chr2:240743936

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2207772

rs_371009856

4 SubmittersRCV000818543 RCV001593013 RCV002460112 RCV005240615

NM_001371279.1(REEP1):c.33-2A>G

SNV
Germline

Chr2:86282244

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347722807

rs_1574077569

5 SubmittersRCV000793389 RCV001003952 RCV005622028 RCV006436905

NM_014855.3(AP5Z1):c.931+1G>A

SNV
Germline

Chr7:4785049

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA366661086

rs_1583232513

1 SubmittersRCV000800447

NM_007347.5(AP4E1):c.944-6T>A

SNV
Germline

Chr15:50941436

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
AP4E1-related disorder

Criteria Provided
Conflicting Classifications

CA7558936

rs_775899244

3 SubmittersRCV000820126 RCV001849121 RCV003955531

NM_025137.4(SPG11):c.4435-2A>G

SNV
Germline

Chr15:44595461

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392227029

rs_1555450825

1 SubmittersRCV000822685

NM_003119.4(SPG7):c.861+5G>A

SNV
Germline

Chr16:89529584

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA286541788

rs_757333854

4 SubmittersRCV000799260 RCV000996405 RCV006701679

NM_003119.4(SPG7):c.87G>A (p.Trp29Ter)

SNV
Germline

Chr16:89508504

Pathogenic

Polyneuropathy
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397415958

rs_1597597437

3 SubmittersRCV000850308 RCV001391422

NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)

SNV
Germline

Chr1:113900371

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
not specified
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1016036

rs_752781534

4 SubmittersRCV001472284 RCV001816926 RCV001849137 RCV002352501

NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)

SNV
Germline

Chr1:228158314

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA1430876

rs_201277546

6 SubmittersRCV000861006 RCV002261233 RCV002538896 RCV001849133 RCV006686891

NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)

SNV
Germline

Chr2:201754516

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058415

rs_201161419

6 SubmittersRCV000862041 RCV001143736 RCV001143735 RCV001672966 RCV001849153

NM_183075.3(CYP2U1):c.60C>T (p.Leu20=)

SNV
Germline

Chr4:107931703

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3036959

rs_535692203

4 SubmittersRCV000861805 RCV001849150 RCV006265337

NM_183075.3(CYP2U1):c.639C>T (p.His213=)

SNV
Germline

Chr4:107945118

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3037036

rs_147256952

3 SubmittersRCV000861541 RCV001849144 RCV003432790

NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=)

SNV
Germline

Chr4:107945523

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3037105

rs_374633238

4 SubmittersRCV001849152 RCV001492536 RCV003432791

NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)

SNV
Germline

Chr7:4783735

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137265

rs_371534878

7 SubmittersRCV000861350 RCV001664488 RCV001849141 RCV001548045

NM_014855.3(AP5Z1):c.891C>T (p.Ala297=)

SNV
Germline

Chr7:4785008

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4137440

rs_763250825

3 SubmittersRCV001444748 RCV001664487 RCV001849139

NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=)

SNV
Germline

Chr7:4788163

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137835

rs_376913055

2 SubmittersRCV001164827

NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=)

SNV
Germline

Chr7:4788283

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified

Criteria Provided
Conflicting Classifications

CA4137881

rs_377310579

3 SubmittersRCV001159919 RCV006436919

NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=)

SNV
Germline

Chr7:4788841

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137935

rs_775572689

2 SubmittersRCV001161318

NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)

SNV
Germline

Chr7:4791266

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
AP5Z1-related disorder
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4138422

rs_188569082

7 SubmittersRCV000863005 RCV001585809 RCV003928350 RCV004997408 RCV005672502

NM_014846.4(WASHC5):c.2076G>A (p.Thr692=)

SNV
Germline

Chr8:125055612

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA4873633

rs_746121315

2 SubmittersRCV001158800 RCV005208614

NM_015214.3(DDHD2):c.899C>T (p.Thr300Ile)

SNV
Germline

Chr8:38245792

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4716114

rs_200249745

2 SubmittersRCV000862293 RCV001547727

NM_015214.3(DDHD2):c.1386C>T (p.Asn462=)

SNV
Germline

Chr8:38251953

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4716256

rs_137874590

2 SubmittersRCV000864178 RCV001847051

NM_020944.3(GBA2):c.326G>A (p.Ser109Asn)

SNV
Germline

Chr9:35748379

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050760

rs_140988229

3 SubmittersRCV000862289 RCV001545896 RCV001849158

NM_001122955.4(BSCL2):c.846G>A (p.Ala282=)

SNV
Germline

Chr11:62692393

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6053436

rs_375554369

2 SubmittersRCV000864157 RCV001847050

NM_152269.5(MTRFR):c.54G>A (p.Pro18=)

SNV
Germline

Chr12:123253728

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 7
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6856507

rs_188310109

3 SubmittersRCV000863977 RCV001847048 RCV003311903

NM_014363.6(SACS):c.10980C>T (p.Pro3660=)

SNV
Germline

Chr13:23332896

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910358

rs_141353693

4 SubmittersRCV000861725 RCV001825710 RCV001849148 RCV006440174

NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)

SNV
Germline

Chr13:23336570

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910933

rs_567650774

3 SubmittersRCV000862365 RCV001849160 RCV003141874

NM_014363.6(SACS):c.7200T>C (p.Phe2400=)

SNV
Germline

Chr13:23336676

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910952

rs_148544893

6 SubmittersRCV000863351 RCV001115056 RCV001849169 RCV006440189

NM_014363.6(SACS):c.5502G>C (p.Leu1834=)

SNV
Germline

Chr13:23338374

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911240

rs_34389000

7 SubmittersRCV000861553 RCV001115154 RCV001664489 RCV001849145

NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)

SNV
Germline

Chr13:23338415

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911247

rs_376680832

8 SubmittersRCV000863078 RCV001080973 RCV001115156 RCV001849165 RCV004997409 RCV003955596

NM_014363.6(SACS):c.1593C>T (p.Ile531=)

SNV
Germline

Chr13:23355019

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6911889

rs_113756713

9 SubmittersRCV000861032 RCV001109712 RCV001552523 RCV001849134 RCV003938209 RCV006436917

NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)

SNV
Germline

Chr13:23355234

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911920

rs_145213666

5 SubmittersRCV000861435 RCV001277270 RCV001849142 RCV004997403 RCV005235497

NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)

SNV
Germline

Chr13:23355586

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911989

rs_190623423

4 SubmittersRCV000862139 RCV001849155 RCV003141873 RCV003892784

NM_014844.5(TECPR2):c.762G>A (p.Thr254=)

SNV
Germline

Chr14:102425102

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7357522

rs_138070234

3 SubmittersRCV000863661 RCV001847042

NM_014844.5(TECPR2):c.3582G>A (p.Thr1194=)

SNV
Germline

Chr14:102452569

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7358282

rs_372271880

3 SubmittersRCV000863171 RCV001849167 RCV006435117

NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=)

SNV
Germline

Chr14:102497020

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7358369

rs_200792120

4 SubmittersRCV000861700 RCV001849147 RCV003884747

NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)

SNV
Germline

Chr14:102497671

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided
TECPR2-related disorder

Criteria Provided
Conflicting Classifications

CA7358445

rs_77170608

6 SubmittersRCV000862938 RCV001849164 RCV002064460 RCV003908182

NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=)

SNV
Germline

Chr14:102497703

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7358450

rs_142318405

4 SubmittersRCV000862235 RCV001849157 RCV006448665

NM_001160148.2(DDHD1):c.2668G>A (p.Asp890Asn)

SNV
Germline

Chr14:53046803

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7190917

rs_202164262

2 SubmittersRCV001521823 RCV001849161

NM_015346.4(ZFYVE26):c.7413C>T (p.Asn2471=)

SNV
Germline

Chr14:67751055

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7238965

rs_769245111

2 SubmittersRCV000862705 RCV001118023

NM_015346.4(ZFYVE26):c.3695G>A (p.Cys1232Tyr)

SNV
Germline

Chr14:67783457

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239922

rs_150010519

3 SubmittersRCV000860587 RCV001121755 RCV004820125

NM_025137.4(SPG11):c.6561G>A (p.Val2187=)

SNV
Germline

Chr15:44569422

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534081

rs_376951822

2 SubmittersRCV000861710 RCV006650466

NM_025137.4(SPG11):c.2577A>G (p.Gln859=)

SNV
Germline

Chr15:44621802

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535207

rs_753130399

2 SubmittersRCV000863237 RCV001772156

NM_007347.5(AP4E1):c.852A>G (p.Leu284=)

SNV
Germline

Chr15:50930954

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7558884

rs_114575519

3 SubmittersRCV000861176 RCV001849136 RCV002062238

NM_016630.7(SPG21):c.771A>C (p.Pro257=)

SNV
Germline

Chr15:64965359

Conflicting classifications of pathogenicity

Mast syndrome
Hereditary spastic paraplegia
SPG21-related disorder

Criteria Provided
Conflicting Classifications

CA7612884

rs_141785149

3 SubmittersRCV000863190 RCV001849168 RCV003938237

NM_003119.4(SPG7):c.250T>C (p.Leu84=)

SNV
Germline

Chr16:89510556

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Conflicting Classifications

CA8243478

rs_138965309

4 SubmittersRCV000862674 RCV001555487 RCV001849162 RCV003955591

NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu)

SNV
Germline

Chr19:7541625

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9139673

rs_200897068

4 SubmittersRCV000863645 RCV001577509 RCV003489945 RCV004029343

NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=)

SNV
Germline

Chr19:7556678

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
not specified
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140384

rs_148831568

5 SubmittersRCV000863646 RCV001549646 RCV003489946 RCV004540175

NM_001166114.2(PNPLA6):c.3252C>T (p.Thr1084=)

SNV
Germline

Chr19:7556696

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
PNPLA6-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140386

rs_151001271

5 SubmittersRCV000863998 RCV001847049 RCV004538212 RCV003424388

NM_006517.5(SLC16A2):c.111T>A (p.Pro37=)

SNV
Germline

ChrX:74421748

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10454366

rs_762215475

2 SubmittersRCV001451935 RCV001847045

NM_014855.3(AP5Z1):c.970-5C>T

SNV
Germline

Chr7:4785517

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Inborn genetic diseases
Optic atrophy

Criteria Provided
Conflicting Classifications

CA4137545

rs_373671779

5 SubmittersRCV001161202 RCV001849135 RCV002536226 RCV004818067

NM_014846.4(WASHC5):c.1522-10T>A

SNV
Germline

Chr8:125059552

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Lymphoma

Criteria Provided
Conflicting Classifications

CA4873791

rs_200283018

4 SubmittersRCV000863939 RCV001847047 RCV003768649 RCV005907008 RCV005907006 RCV005907007

NM_004820.5(CYP7B1):c.122+9C>T

SNV
Germline

Chr8:64798457

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
CYP7B1-related disorder

Criteria Provided
Conflicting Classifications

CA179061861

rs_968898541

3 SubmittersRCV001466138 RCV001847043 RCV003918355

NM_015346.4(ZFYVE26):c.4974+5G>A

SNV
Germline

Chr14:67777554

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7239632

rs_757204134

2 SubmittersRCV000862946 RCV001328898

NM_024306.5(FA2H):c.271-8C>A

SNV
Germline

Chr16:74740123

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170589

rs_199610820

4 SubmittersRCV000862757 RCV001117372 RCV001088862

NM_001253852.3(AP4B1):c.49C>T (p.Leu17=)

SNV
Germline

Chr1:113904669

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA1016215

rs_748774784

2 SubmittersRCV000868865 RCV001847080

NM_020919.4(ALS2):c.366G>A (p.Gln122=)

SNV
Germline

Chr2:201761628

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058661

rs_775483404

3 SubmittersRCV000866239 RCV001142055 RCV001142056 RCV001847066

NM_014946.4(SPAST):c.441A>G (p.Glu147=)

SNV
Germline

Chr2:32087517

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600587

rs_375027118

2 SubmittersRCV001143042

NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)

SNV
Germline

Chr7:100106660

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4375009

rs_574878636

4 SubmittersRCV000867161 RCV001816977 RCV003334024

NM_004722.4(AP4M1):c.1293C>T (p.Cys431=)

SNV
Germline

Chr7:100106813

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 50
AP4M1-related disorder

Criteria Provided
Conflicting Classifications

CA4375058

rs_151301464

3 SubmittersRCV001847079 RCV002064597 RCV003930376

NM_014855.3(AP5Z1):c.636C>T (p.Thr212=)

SNV
Germline

Chr7:4784217

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137300

rs_777143531

3 SubmittersRCV001847064 RCV002538965 RCV003432809

NM_014855.3(AP5Z1):c.684C>T (p.Ser228=)

SNV
Germline

Chr7:4784265

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137318

rs_746349613

2 SubmittersRCV001164717

NM_014855.3(AP5Z1):c.894C>T (p.Phe298=)

SNV
Germline

Chr7:4785011

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
not specified
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137441

rs_777233282

4 SubmittersRCV001440722 RCV001664500 RCV001847063 RCV003424394

NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=)

SNV
Germline

Chr7:4788861

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137942

rs_569601905

3 SubmittersRCV001161319 RCV005256695

NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=)

SNV
Germline

Chr7:4790699

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4138241

rs_543467648

2 SubmittersRCV001164944

NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=)

SNV
Germline

Chr8:125057565

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA4873709

rs_202216835

2 SubmittersRCV001158801 RCV001457212

NM_014846.4(WASHC5):c.1779C>T (p.Leu593=)

SNV
Germline

Chr8:125057652

Conflicting classifications of pathogenicity

Condition: not provided
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA4873721

rs_147434450

2 SubmittersRCV000867730 RCV003768659

NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val)

SNV
Germline

Chr11:62694666

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy

Criteria Provided
Conflicting Classifications

CA6053532

rs_760613992

3 SubmittersRCV002064614 RCV003328472 RCV005049717

NM_152269.5(MTRFR):c.234C>A (p.Thr78=)

SNV
Germline

Chr12:123253908

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 7
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6856543

rs_140942886

3 SubmittersRCV001406829 RCV001847054 RCV003392640

NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)

SNV
Germline

Chr13:23331047

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910073

rs_370655945

6 SubmittersRCV000867623 RCV001113355 RCV001288702 RCV001847073

NM_014844.5(TECPR2):c.4014C>T (p.Gly1338=)

SNV
Germline

Chr14:102497652

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA7358440

rs_372319066

3 SubmittersRCV000864746 RCV001847055 RCV006265353

NM_014844.5(TECPR2):c.4149G>A (p.Thr1383=)

SNV
Germline

Chr14:102498170

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7358487

rs_776285112

2 SubmittersRCV000865809 RCV001847061

NM_001160148.2(DDHD1):c.181G>C (p.Gly61Arg)

SNV
Germline

Chr14:53152918

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7191571

rs_568294049

4 SubmittersRCV000867721 RCV001545409 RCV001847074 RCV003169144

NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr)

SNV
Germline

Chr14:67798392

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7240431

rs_531152715

4 SubmittersRCV000867110 RCV001119877 RCV001847071 RCV003411847

NM_015346.4(ZFYVE26):c.1159C>T (p.Leu387Phe)

SNV
Germline

Chr14:67805477

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7240606

rs_76738736

3 SubmittersRCV000865965 RCV001115291

NM_015346.4(ZFYVE26):c.678T>C (p.Arg226=)

SNV
Germline

Chr14:67807606

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7240735

rs_762577403

2 SubmittersRCV000869807 RCV001118449

NM_015346.4(ZFYVE26):c.606G>C (p.Arg202=)

SNV
Germline

Chr14:67807678

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7240757

rs_187303187

3 SubmittersRCV000865502 RCV001118451 RCV005427321

NM_144599.5(NIPA1):c.681C>T (p.Leu227=)

SNV
Germline

Chr15:22823930

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7426015

rs_200282898

4 SubmittersRCV001117930 RCV001847070 RCV003456443

NM_025137.4(SPG11):c.5796T>C (p.His1932=)

SNV
Germline

Chr15:44583884

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Condition: not provided
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534347

rs_375350193

6 SubmittersRCV000865368 RCV001664499 RCV003396503 RCV003965694

NM_025137.4(SPG11):c.4717C>T (p.Leu1573=)

SNV
Germline

Chr15:44592357

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7534609

rs_560868702

2 SubmittersRCV000868654 RCV001847077

NM_025137.4(SPG11):c.3894C>T (p.Ala1298=)

SNV
Germline

Chr15:44598372

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA490207339

rs_1352070054

2 SubmittersRCV000867101 RCV003311905

NM_025137.4(SPG11):c.2082C>T (p.Ser694=)

SNV
Germline

Chr15:44626493

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535345

rs_375179506

3 SubmittersRCV000866462 RCV006435122

NM_025137.4(SPG11):c.1195C>T (p.Leu399=)

SNV
Germline

Chr15:44651752

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA270102438

rs_990876732

2 SubmittersRCV001400526 RCV006279260

NM_007347.5(AP4E1):c.3288A>G (p.Pro1096=)

SNV
Germline

Chr15:51002536

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA270529316

rs_764886183

2 SubmittersRCV000868761 RCV001847078

NM_007347.5(AP4E1):c.3351C>T (p.Ser1117=)

SNV
Germline

Chr15:51002599

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
AP4E1-related disorder

Criteria Provided
Conflicting Classifications

CA7559495

rs_371690344

3 SubmittersRCV000865238 RCV001847057 RCV003975401

NM_002693.3(POLG):c.484C>T (p.Leu162=)

SNV
Germline

Chr15:89333271

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725108

rs_375445567

4 SubmittersRCV000867916 RCV001692304 RCV001847075 RCV006440215

NM_024306.5(FA2H):c.905C>T (p.Ala302Val)

SNV
Germline

Chr16:74716481

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170355

rs_202048141

2 SubmittersRCV000870724 RCV001847084

NM_024306.5(FA2H):c.798C>T (p.Asp266=)

SNV
Germline

Chr16:74716588

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 35
FA2H-related disorder

Criteria Provided
Conflicting Classifications

CA8170380

rs_771402018

3 SubmittersRCV000868080 RCV001120848 RCV003908237

NM_024306.5(FA2H):c.600G>A (p.Thr200=)

SNV
Germline

Chr16:74726238

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170478

rs_774718977

2 SubmittersRCV001115912 RCV001455441

NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=)

SNV
Germline

Chr19:7561541

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140704

rs_143060121

4 SubmittersRCV000866187 RCV001847065 RCV004538239

NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)

SNV
Germline

ChrX:153866848

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10554203

rs_201081454

4 SubmittersRCV000865405 RCV001847058 RCV002427122 RCV003992410

NM_020919.4(ALS2):c.2979+8T>C

SNV
Germline

Chr2:201727204

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA2058028

rs_373602123

3 SubmittersRCV000866523 RCV001847067 RCV004997420

NM_020919.4(ALS2):c.2912+8C>T

SNV
Germline

Chr2:201727697

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Hereditary spastic paraplegia
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

CA2058053

rs_528131651

3 SubmittersRCV001141832 RCV001141833 RCV001847072 RCV002538983

NM_014855.3(AP5Z1):c.511+6C>T

SNV
Germline

Chr7:4783466

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137234

rs_770095188

2 SubmittersRCV000865429 RCV002536274

NM_014855.3(AP5Z1):c.970-4G>A

SNV
Germline

Chr7:4785518

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137547

rs_559842146

3 SubmittersRCV001431785 RCV002539949 RCV003432820

NM_014855.3(AP5Z1):c.2153+8G>A

SNV
Germline

Chr7:4790895

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4138325

rs_189564026

2 SubmittersRCV000865224

NM_015346.4(ZFYVE26):c.2756-7C>T

SNV
Germline

Chr14:67789605

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240175

rs_200721800

2 SubmittersRCV000866723 RCV001847069

NM_015346.4(ZFYVE26):c.1435+8G>A

SNV
Germline

Chr14:67804093

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240527

rs_779576115

3 SubmittersRCV000869037 RCV001121861 RCV001847081

NM_025137.4(SPG11):c.4162-4C>T

SNV
Germline

Chr15:44596359

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases
Neurofibromatosis, type 1

Criteria Provided
Conflicting Classifications

CA7534737

rs_777010404

5 SubmittersRCV000865847 RCV001847062 RCV002332787 RCV005626244

NM_025137.4(SPG11):c.1457-4A>G

SNV
Germline

Chr15:44649015

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535536

rs_773844127

2 SubmittersRCV000870701

NM_024306.5(FA2H):c.786+7G>A

SNV
Germline

Chr16:74718981

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8170409

rs_368669121

2 SubmittersRCV001120849 RCV002539009

NM_003119.4(SPG7):c.184-4T>C

SNV
Germline

Chr16:89510486

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8243453

rs_533778042

3 SubmittersRCV000870048 RCV006698278

NM_003119.4(SPG7):c.759-6C>T

SNV
Germline

Chr16:89529471

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8243773

rs_568452581

2 SubmittersRCV000868378 RCV001847076

NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys)

SNV
Germline

Chr2:240740088

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2207611

rs_199998986

5 SubmittersRCV000874310 RCV001509204 RCV002454029 RCV004997438

NM_001244008.2(KIF1A):c.1032G>A (p.Thr344=)

SNV
Germline

Chr2:240774188

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208562

rs_760595439

3 SubmittersRCV000875948 RCV001136993 RCV006265391

NM_001244008.2(KIF1A):c.789G>A (p.Thr263=)

SNV
Germline

Chr2:240783748

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208665

rs_368610026

3 SubmittersRCV000877213 RCV001139246 RCV003432852

NM_006070.6(TFG):c.1048G>A (p.Ala350Thr)

SNV
Germline

Chr3:100748376

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2517246

rs_543542721

5 SubmittersRCV000877235 RCV002227224 RCV002399965

NM_001271803.2(REEP2):c.605C>T (p.Pro202Leu)

SNV
Germline

Chr5:138445507

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 72

Criteria Provided
Conflicting Classifications

CA3429872

rs_111927109

2 SubmittersRCV000874616 RCV001519338

NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)

SNV
Germline

Chr7:4785546

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA153024089

rs_1045333933

3 SubmittersRCV002539197 RCV004707454

NM_014855.3(AP5Z1):c.2232G>A (p.Ala744=)

SNV
Germline

Chr7:4791193

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4138390

rs_534516510

2 SubmittersRCV000872280 RCV001847089

NM_007175.8(ERLIN2):c.39T>C (p.Ser13=)

SNV
Germline

Chr8:37737961

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4710586

rs_368986092

2 SubmittersRCV000877740 RCV001847105

NM_015046.7(SETX):c.81C>T (p.Ser27=)

SNV
Germline

Chr9:132349348

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Hereditary spastic paraplegia
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5298135

rs_149229231

7 SubmittersRCV000873708 RCV001288751 RCV001847094 RCV003117630 RCV004540253

NM_001776.6(ENTPD1):c.834C>T (p.Leu278=)

SNV
Germline

Chr10:95847466

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5621485

rs_780370619

3 SubmittersRCV000875547 RCV001847100 RCV003424417

NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=)

SNV
Germline

Chr10:95866188

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5621637

rs_139646807

2 SubmittersRCV001423756 RCV001847095

NM_014363.6(SACS):c.1752A>G (p.Leu584=)

SNV
Germline

Chr13:23354860

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911856

rs_368626712

3 SubmittersRCV000871517 RCV001277269 RCV001847087

NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=)

SNV
Germline

Chr14:53055745

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7191039

rs_377049663

2 SubmittersRCV001502254 RCV001847097

NM_015346.4(ZFYVE26):c.6876A>G (p.Leu2292=)

SNV
Germline

Chr14:67755161

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239119

rs_773663147

2 SubmittersRCV000874378 RCV001847096

NM_015346.4(ZFYVE26):c.3036C>T (p.His1012=)

SNV
Germline

Chr14:67786217

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240087

rs_551159891

2 SubmittersRCV000872401 RCV001847090

NM_015346.4(ZFYVE26):c.2097C>A (p.Ile699=)

SNV
Germline

Chr14:67798165

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240401

rs_142972003

2 SubmittersRCV000871558 RCV001847088

NM_005154.5(USP8):c.1330C>T (p.Arg444Cys)

SNV
Germline

Chr15:50481592

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Autosomal recessive spastic paraplegia type 59

Criteria Provided
Conflicting Classifications

CA7555704

rs_148244041

2 SubmittersRCV002064746 RCV004765340

NM_003119.4(SPG7):c.33C>T (p.Leu11=)

SNV
Germline

Chr16:89508450

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA497174870

rs_1319347094

2 SubmittersRCV000875038 RCV001411251

NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)

SNV
Germline

Chr17:5004017

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA8318775

rs_145650252

5 SubmittersRCV000871153 RCV001446098 RCV001847085 RCV002539099 RCV003920401

NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=)

SNV
Germline

Chr17:5024037

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided
not specified
Lung cancer
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA8319503

rs_143972053

5 SubmittersRCV000871154 RCV001847086 RCV003413694 RCV005438041 RCV005907091 RCV005907090

NM_002361.4(MAG):c.1609C>T (p.Arg537Cys)

SNV
Germline

Chr19:35310636

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 75
Condition: not provided
MAG-related disorder

Criteria Provided
Conflicting Classifications

CA9376323

rs_35237014

5 SubmittersRCV002064832 RCV003884778 RCV003938364

NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=)

SNV
Germline

Chr19:7540278

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139528

rs_375424103

3 SubmittersRCV000874595 RCV006448717

NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=)

SNV
Germline

Chr19:7550532

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139982

rs_757870828

2 SubmittersRCV000871833

NM_001010867.4(IBA57):c.680-5T>A

SNV
Germline

Chr1:228175117

Conflicting classifications of pathogenicity

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1431229

rs_577050962

2 SubmittersRCV000875016 RCV001731964

NM_024989.4(PGAP1):c.927+4T>C

SNV
Germline

Chr2:196897127

Conflicting classifications of pathogenicity

Intellectual disability, autosomal recessive 42
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2041080

rs_201984003

5 SubmittersRCV000875541 RCV001847099 RCV002539203 RCV003432846

NM_001244008.2(KIF1A):c.3202+8G>A

SNV
Germline

Chr2:240746031

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
not specified
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207886

rs_371620074

4 SubmittersRCV000872528 RCV001511015 RCV001817020 RCV004538314

NM_001244008.2(KIF1A):c.4834C>T (p.Leu1612=)

SNV
Germline

Chr2:240720948

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA68135521

rs_772100288

3 SubmittersRCV000945700 RCV001412585 RCV001847115

NM_006612.6(KIF1C):c.1563C>T (p.Gly521=)

SNV
Germline

Chr17:5013724

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8319029

rs_376123205

3 SubmittersRCV000945782 RCV001847116 RCV003424485

NM_001244008.2(KIF1A):c.3132C>T (p.Ile1044=)

SNV
Germline

Chr2:240746109

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2207898

rs_373045276

2 SubmittersRCV000972037 RCV001847117

NM_006070.6(TFG):c.771G>A (p.Gln257=)

SNV
Germline

Chr3:100744882

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided

Criteria Provided
Conflicting Classifications

CA79711908

rs_374006808

2 SubmittersRCV000960369 RCV002066364

NM_014363.6(SACS):c.11049T>C (p.Asn3683=)

SNV
Germline

Chr13:23332827

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910346

rs_773770705

5 SubmittersRCV000973335 RCV001847118 RCV001832214 RCV003953325 RCV006436984

NM_002361.4(MAG):c.971-5C>T

SNV
Germline

Chr19:35302443

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 75
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9376151

rs_200576970

2 SubmittersRCV001495724 RCV002539288

NM_015214.3(DDHD2):c.226G>T (p.Gly76Cys)

SNV
Germline

Chr8:38234399

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4715919

rs_141644282

5 SubmittersRCV000909830 RCV001847110 RCV003438578 RCV004028608

NM_020944.3(GBA2):c.1428C>T (p.Tyr476=)

SNV
Germline

Chr9:35739782

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050400

rs_781075990

2 SubmittersRCV001847107 RCV003586237

NM_014363.6(SACS):c.1905G>A (p.Leu635=)

SNV
Germline

Chr13:23354707

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911824

rs_771581634

2 SubmittersRCV000898794 RCV001847108

NM_001244008.2(KIF1A):c.799-4G>A

SNV
Germline

Chr2:240783113

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208645

rs_759945798

3 SubmittersRCV000899490 RCV001460846 RCV002416110

NM_001244008.2(KIF1A):c.2280T>C (p.Phe760=)

SNV
Germline

Chr2:240760829

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA432033382

rs_1575587120

2 SubmittersRCV001409971 RCV001847113

NM_152269.5(MTRFR):c.246G>A (p.Val82=)

SNV
Germline

Chr12:123253920

Conflicting classifications of pathogenicity

Combined oxidative phosphorylation defect type 7
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA482450255

rs_1593287730

2 SubmittersRCV000924460 RCV001847112

NM_014363.6(SACS):c.2148C>T (p.His716=)

SNV
Germline

Chr13:23353822

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911761

rs_780789330

3 SubmittersRCV001397544 RCV001847111 RCV006436968

NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=)

SNV
Germline

Chr2:240722537

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
not specified
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207384

rs_747267404

4 SubmittersRCV000928860 RCV001818893 RCV003438595 RCV004738087

NM_014946.4(SPAST):c.1107A>G (p.Thr369=)

SNV
Germline

Chr2:32126956

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA425446552

rs_1573139443

2 SubmittersRCV000936378 RCV006279268

NM_001244008.2(KIF1A):c.1684+8C>T

SNV
Germline

Chr2:240766907

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208317

rs_769501237

2 SubmittersRCV001406012 RCV006435142

NM_015346.4(ZFYVE26):c.6019A>G (p.Ser2007Gly)

SNV
Germline

Chr14:67762812

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7239325

rs_150497301

2 SubmittersRCV000981783 RCV001116682

NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu)

SNV
Germline

Chr17:5007059

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318927

rs_148619121

4 SubmittersRCV001452858 RCV001847121 RCV002549567 RCV005243442

NM_014363.6(SACS):c.21-5C>T

SNV
Germline

Chr13:23375274

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6912189

rs_565378672

2 SubmittersRCV000981416 RCV001847120

NM_001160148.2(DDHD1):c.2444G>A (p.Arg815Lys)

SNV
Germline

Chr14:53051921

Likely pathogenic

Hereditary spastic paraplegia 28

No Assertion Criteria Provided

CA389768890

rs_147133475

1 SubmittersRCV000985169

NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu)

SNV
Germline

Chr8:64596841

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia
CYP7B1-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA371333426

rs_1376071051

4 SubmittersRCV000984500 RCV001858604 RCV004743241 RCV005236498

NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)

SNV
Germline

Chr15:44565928

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392213175

rs_1595817021

3 SubmittersRCV000984493 RCV002067562

NM_001244008.2(KIF1A):c.2754T>G (p.Asp918Glu)

SNV
Germline

Chr2:240757423

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68169750

rs_143816642

4 SubmittersRCV000987073 RCV002434373 RCV004693424

NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg)

SNV
Unknown

Chr2:240783106

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351302703

rs_1575624664

1 SubmittersRCV000987074

NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro)

SNV
Unknown

Chr2:240786473

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351306777

rs_1575631836

1 SubmittersRCV000987075

NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp)

SNV
Germline

Chr2:240788181

Likely pathogenic

Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Single Submitter

CA351310807

rs_1575637048

2 SubmittersRCV000987076 RCV004726754

NM_014946.4(SPAST):c.1037G>T (p.Gly346Val)

SNV
Unknown

Chr2:32116151

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499668

rs_1573121594

1 SubmittersRCV000986613

NM_014946.4(SPAST):c.1174-2A>T

SNV
Unknown

Chr2:32128406

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501355

rs_1553317018

1 SubmittersRCV000986615

NM_014946.4(SPAST):c.1496G>T (p.Arg499Leu)

SNV
Unknown

Chr2:32141906

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502827

rs_878854991

1 SubmittersRCV000986617

NM_014946.4(SPAST):c.1838A>G (p.Asp613Gly)

SNV
Unknown

Chr2:32154483

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346505761

rs_1553321269

1 SubmittersRCV000986618

NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)

SNV
Germline

Chr2:32154486

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346505770

rs_1573186691

6 SubmittersRCV000986619 RCV001847122 RCV005401686

NM_015915.5(ATL1):c.488T>C (p.Val163Ala)

SNV
Germline

Chr14:50591605

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Single Submitter

CA389667531

rs_1595600383

4 SubmittersRCV000989218 RCV001580004

NM_015915.5(ATL1):c.1223T>C (p.Met408Thr)

SNV
Germline

Chr14:50628134

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA389675802

rs_1595625113

3 SubmittersRCV000989219 RCV001585898

NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter)

SNV
Germline

Chr14:67780282

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7239711

rs_763869212

2 SubmittersRCV000989240 RCV002549723

NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter)

SNV
Germline

Chr14:67782793

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA390169985

rs_1594912625

2 SubmittersRCV000989242 RCV002549724

NM_025137.4(SPG11):c.4434+1G>A

SNV
Germline

Chr15:44596082

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392227273

rs_1567148391

4 SubmittersRCV000989300 RCV001311028

NM_025137.4(SPG11):c.2048G>A (p.Trp683Ter)

SNV
Unknown

Chr15:44628688

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392234091

rs_1595898030

1 SubmittersRCV000989301

NM_025137.4(SPG11):c.334G>T (p.Glu112Ter)

SNV
Unknown

Chr15:44660540

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392238304

rs_1595940058

1 SubmittersRCV000989304

NM_003119.4(SPG7):c.1997G>T (p.Gly666Val)

SNV
Unknown

Chr16:89553854

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397433950

rs_1597665080

1 SubmittersRCV000989666

NM_001271803.2(REEP2):c.696+2T>G

SNV
Germline

Chr5:138445600

Likely pathogenic

Hereditary spastic paraplegia 72

Criteria Provided
Single Submitter

CA361105443

rs_1580980701

1 SubmittersRCV000991434

NM_014946.4(SPAST):c.364C>T (p.Gln122Ter)

SNV
Germline

Chr2:32064195

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346602403

rs_1233469782

2 SubmittersRCV000993069 RCV006464917

NM_014855.3(AP5Z1):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr7:4784302

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Multiple Submitters
No Conflicts

CA4137332

rs_751778396

2 SubmittersRCV000991543 RCV002549762

NM_015915.5(ATL1):c.1040T>C (p.Met347Thr)

SNV
Germline

Chr14:50621892

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389673659

rs_1595620366

3 SubmittersRCV000993058 RCV003311931

NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)

SNV
Germline

Chr16:89553883

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA286567933

rs_72547553

2 SubmittersRCV000993073 RCV002549827

NM_005619.5(RTN2):c.1476C>G (p.Pro492=)

SNV
Germline

Chr19:45488492

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9515949

rs_748824542

3 SubmittersRCV000992762 RCV001399634 RCV001847124

NM_014946.4(SPAST):c.1174-1G>C

SNV
Germline

Chr2:32128407

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501356

rs_1553317024

2 SubmittersRCV000993060 RCV003523053

NM_014946.4(SPAST):c.1413+1G>A

SNV
Germline

Chr2:32136969

Pathogenic

Condition: not provided
Tip-toe gait
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502367

rs_1553318276

7 SubmittersRCV000993066 RCV001823007 RCV002471005

NM_014946.4(SPAST):c.1617-2A>G

SNV
Germline

Chr2:32144935

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346504145

rs_1553319524

2 SubmittersRCV000993067 RCV001223606

NM_001244008.2(KIF1A):c.4236G>T (p.Gly1412=)

SNV
Germline

Chr2:240725291

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA432018936

rs_1398284516

3 SubmittersRCV000997710 RCV002354911 RCV002549979

NM_001244008.2(KIF1A):c.831C>T (p.Thr277=)

SNV
Germline

Chr2:240783077

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA432022535

rs_1575624578

3 SubmittersRCV000997714 RCV002409329 RCV003769367

NM_014855.3(AP5Z1):c.928C>T (p.Arg310Ter)

SNV
Germline

Chr7:4785045

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 48
Macular dystrophy with or without extraocular features
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4137453

rs_748724870

6 SubmittersRCV000998757 RCV001785749 RCV005255637 RCV006694043

NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter)

SNV
Germline

Chr8:38238155

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 54

Criteria Provided
Conflicting Classifications

CA4716016

rs_377293194

3 SubmittersRCV000999025 RCV001858893

NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)

SNV
Germline

Chr13:23336726

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6910963

rs_762896797

9 SubmittersRCV000995035 RCV001115057 RCV001242408 RCV001847126 RCV005912213

NM_015346.4(ZFYVE26):c.5321-3C>T

SNV
Germline

Chr14:67772213

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239523

rs_376234357

4 SubmittersRCV000995199 RCV001119667 RCV001858809

NM_007347.5(AP4E1):c.822A>G (p.Gln274=)

SNV
Germline

Chr15:50930924

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA270517152

rs_991693986

4 SubmittersRCV000995355 RCV001217167 RCV001819705 RCV001847128

NM_003119.4(SPG7):c.818G>A (p.Arg273His)

SNV
Germline

Chr16:89529536

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243795

rs_770339981

3 SubmittersRCV000996404 RCV001644887 RCV005056731

NM_001199753.2(CPT1C):c.1308C>T (p.Tyr436=)

SNV
Germline

Chr19:49706378

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 73

Criteria Provided
Conflicting Classifications

CA9582138

rs_138872867

2 SubmittersRCV000996968 RCV001493914

NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)

SNV
Germline

Chr2:32143352

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346503657

rs_1553319290

4 SubmittersRCV000995883 RCV001664596

NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu)

SNV
Germline

Chr8:64604824

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA371334291

rs_770065565

2 SubmittersRCV000995754 RCV002549917

NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys)

SNV
Germline

Chr16:74714190

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA8170301

rs_758814013

4 SubmittersRCV000995543 RCV002068722 RCV002550680 RCV006687231

NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)

SNV
Germline

Chr16:74716418

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8170342

rs_774131656

3 SubmittersRCV000995544 RCV003588705 RCV004761855

NM_003119.4(SPG7):c.1552+1G>T

SNV
Germline

Chr16:89546761

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Hereditary spastic paraplegia
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA8244236

rs_141644720

13 SubmittersRCV000995648 RCV001091056 RCV001847130 RCV005912224

NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val)

SNV
Germline

Chr19:7550336

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome

Criteria Provided
Conflicting Classifications

CA9139954

rs_568356836

3 SubmittersRCV000995612 RCV001644886

NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter)

SNV
Germline

Chr10:103101286

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA5671094

rs_764453448

2 SubmittersRCV001030784

NM_001244008.2(KIF1A):c.3816+8C>T

SNV
Germline

Chr2:240740290

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA915941862

rs_776328472

2 SubmittersRCV001002396 RCV002068792

NM_020631.6(PLEKHG5):c.773C>T (p.Pro258Leu)

SNV
Germline

Chr1:6473273

Likely pathogenic

Hereditary spastic paraplegia

No Assertion Criteria Provided

CA17242161

rs_910474236

1 SubmittersRCV001027499

NM_015915.5(ATL1):c.1216A>G (p.Lys406Glu)

SNV
Germline

Chr14:50628127

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389675769

rs_1595625104

1 SubmittersRCV001027705

NM_001244008.2(KIF1A):c.4869G>A (p.Arg1623=)

SNV
Germline

Chr2:240719926

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207261

rs_372521322

3 SubmittersRCV001035350 RCV002337082 RCV004693447

NM_001244008.2(KIF1A):c.4753A>T (p.Met1585Leu)

SNV
Germline

Chr2:240721029

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351302070

rs_1203273192

2 SubmittersRCV001048273 RCV003333123 RCV003333124 RCV003333125

NM_001244008.2(KIF1A):c.4649G>A (p.Arg1550Gln)

SNV
Germline

Chr2:240722472

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA68137472

rs_952804990

2 SubmittersRCV001060043 RCV002339298

NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln)

SNV
Germline

Chr2:240722482

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351303631

rs_537893174

2 SubmittersRCV001037645 RCV004792639

NM_001244008.2(KIF1A):c.4111G>A (p.Ala1371Thr)

SNV
Germline

Chr2:240726837

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207500

rs_751798253

2 SubmittersRCV001064017 RCV003132200

NM_001244008.2(KIF1A):c.3886C>T (p.Arg1296Cys)

SNV
Germline

Chr2:240740073

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207609

rs_201684653

2 SubmittersRCV001048447 RCV002451196

NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn)

SNV
Germline

Chr2:240741315

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207695

rs_200257048

5 SubmittersRCV001066243 RCV001759837 RCV002554486

NM_001244008.2(KIF1A):c.3594G>T (p.Arg1198Ser)

SNV
Germline

Chr2:240742975

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351316462

rs_1411100549

2 SubmittersRCV001047760 RCV003432999

NM_001244008.2(KIF1A):c.3385C>T (p.Arg1129Cys)

SNV
Germline

Chr2:240745507

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207818

rs_774779281

2 SubmittersRCV001061272 RCV002451260

NM_001244008.2(KIF1A):c.3287G>A (p.Arg1096His)

SNV
Germline

Chr2:240745825

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207848

rs_780970120

4 SubmittersRCV001035265 RCV002445206 RCV003339431 RCV006261276

NM_001244008.2(KIF1A):c.3254A>G (p.Asp1085Gly)

SNV
Germline

Chr2:240745858

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA68157158

rs_550429072

4 SubmittersRCV001069667 RCV004761923 RCV005436982

NM_001244008.2(KIF1A):c.1266C>T (p.Arg422=)

SNV
Germline

Chr2:240771046

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Condition: not provided
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2208465

rs_190195227

4 SubmittersRCV001063961 RCV001136992 RCV001551942 RCV004536125

NM_001244008.2(KIF1A):c.1021A>G (p.Thr341Ala)

SNV
Germline

Chr2:240774199

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351296670

rs_2052419658

3 SubmittersRCV001069855 RCV001268380 RCV004768854

NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)

SNV
Germline

Chr2:240797649

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351315396

rs_2056551129

1 SubmittersRCV001071735

NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)

SNV
Germline

Chr2:32114667

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1600693

rs_140094231

4 SubmittersRCV001047464 RCV001585943

NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro)

SNV
Germline

Chr2:32116154

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346499672

rs_1678825469

2 SubmittersRCV001060706 RCV001268906

NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly)

SNV
Germline

Chr2:32116181

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499781

rs_1553315345

1 SubmittersRCV001043692

NM_014946.4(SPAST):c.1159G>A (p.Gly387Arg)

SNV
Germline

Chr2:32127008

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501317

rs_1679217117

1 SubmittersRCV001050999

NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)

SNV
Germline

Chr2:32136945

Pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA346502312

rs_1679556566

2 SubmittersRCV001052644 RCV001847137

NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro)

SNV
Germline

Chr2:32143400

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346503834

rs_1553319317

1 SubmittersRCV001053054

NM_014946.4(SPAST):c.1785C>G (p.Ser595Arg)

SNV
Germline

Chr2:32154430

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346505641

rs_145206063

1 SubmittersRCV001063727

NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter)

SNV
Germline

Chr2:86252029

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347716240

rs_138656911

2 SubmittersRCV001047463 RCV004720051

NM_001271803.2(REEP2):c.119T>G (p.Met40Arg)

SNV
Germline

Chr5:138441398

Pathogenic

Hereditary spastic paraplegia 72

Criteria Provided
Multiple Submitters
No Conflicts

CA361101336

rs_1763822813

3 SubmittersRCV001071608

NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val)

SNV
Germline

Chr8:125049053

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4873557

rs_146623998

3 SubmittersRCV001035267 RCV001163719 RCV002264144

NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys)

SNV
Germline

Chr8:37740444

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA370650183

rs_1802811311

2 SubmittersRCV001065814 RCV001391375

NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr)

SNV
Germline

Chr9:35740050

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 46
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5050436

rs_145802357

3 SubmittersRCV001046919 RCV001336003 RCV003160358

NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)

SNV
Germline

Chr10:103093199

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 45
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212323644

rs_769873284

3 SubmittersRCV001035006 RCV006261275

NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr)

SNV
Germline

Chr12:57569050

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10

Criteria Provided
Conflicting Classifications

CA6652677

rs_139015012

2 SubmittersRCV001059220 RCV005866778

NM_001478.5(B4GALNT1):c.1556G>C (p.Arg519Pro)

SNV
Germline

Chr12:57626790

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 26

Criteria Provided
Conflicting Classifications

CA237818367

rs_751593187

3 SubmittersRCV001051926 RCV004773266 RCV006738293

NM_015915.5(ATL1):c.716G>T (p.Arg239Leu)

SNV
Germline

Chr14:50613344

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389671158

rs_1241621325

1 SubmittersRCV001065616

NM_015915.5(ATL1):c.1247G>A (p.Arg416His)

SNV
Germline

Chr14:50628158

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389675855

rs_1395551564

5 SubmittersRCV001064153 RCV001593242 RCV002393313

NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)

SNV
Germline

Chr15:44585746

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534517

rs_141011688

3 SubmittersRCV001045168 RCV001759961 RCV002468119 RCV002468120

NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)

SNV
Germline

Chr15:44589285

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
not specified

Criteria Provided
Conflicting Classifications

CA7534565

rs_371716779

5 SubmittersRCV001042695 RCV001759744 RCV002339213 RCV002468114 RCV002468115 RCV006455360

NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)

SNV
Germline

Chr15:44600595

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534902

rs_201902382

6 SubmittersRCV001065139 RCV001287997 RCV002339328 RCV002468140 RCV002468141

NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)

SNV
Germline

Chr15:44651563

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535567

rs_139019255

5 SubmittersRCV001063652 RCV001862795 RCV002393309 RCV002468135 RCV002468136

NM_025137.4(SPG11):c.1152G>A (p.Trp384Ter)

SNV
Germline

Chr15:44651795

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392236476

rs_2084787275

1 SubmittersRCV001050015

NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)

SNV
Germline

Chr15:44651826

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535617

rs_144403346

3 SubmittersRCV001045167 RCV001759765 RCV002468117 RCV002468118

NM_024306.5(FA2H):c.461G>A (p.Arg154His)

SNV
Germline

Chr16:74727289

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 35

Criteria Provided
Conflicting Classifications

CA396770072

rs_1204169977

2 SubmittersRCV001035603 RCV005866751

NM_001166114.2(PNPLA6):c.898C>A (p.Pro300Thr)

SNV
Germline

Chr19:7541025

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403106855

rs_1057518936

1 SubmittersRCV001059737

NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr)

SNV
Germline

Chr19:7557191

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Multiple Submitters
No Conflicts

CA403133730

rs_1236012815

2 SubmittersRCV001059736

NM_001166114.2(PNPLA6):c.3406G>A (p.Ala1136Thr)

SNV
Germline

Chr19:7558858

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140484

rs_765257753

2 SubmittersRCV001071909 RCV003229876

NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala)

SNV
Germline

Chr19:7559066

Likely pathogenic

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia 39
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Laurence-Moon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA403135483

rs_1211079280

2 SubmittersRCV001049696 RCV005359812

NM_025137.4(SPG11):c.1891+1G>T

SNV
Germline

Chr15:44629232

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA270080968

rs_532072204

2 SubmittersRCV001057142 RCV003155347

NM_016630.7(SPG21):c.452+2T>C

SNV
Germline

Chr15:64974600

Likely pathogenic

Mast syndrome
Hereditary spastic paraplegia
Condition: not provided
SPG21-related disorder
Acute myeloid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7612962

rs_755390093

7 SubmittersRCV001039286 RCV001847135 RCV003153900 RCV004757363 RCV005912446

NM_003119.4(SPG7):c.861+6T>C

SNV
Germline

Chr16:89529585

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA286541789

rs_765178985

2 SubmittersRCV001039955

NM_001166114.2(PNPLA6):c.3281-5C>G

SNV
Germline

Chr19:7557163

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Cervical cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140417

rs_370676290

4 SubmittersRCV001046586 RCV005912479 RCV006265549

NM_001122955.4(BSCL2):c.486+1G>A

SNV
Germline

Chr11:62702467

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 2
Condition: not provided
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C

Criteria Provided
Multiple Submitters
No Conflicts

CA380968228

rs_1011200048

3 SubmittersRCV001047252 RCV001784598 RCV005049743

NM_025137.4(SPG11):c.3145+1G>T

SNV
Germline

Chr15:44613429

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA270066412

rs_956922949

1 SubmittersRCV001041586

NM_001478.5(B4GALNT1):c.532-2A>G

SNV
Germline

Chr12:57630334

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 26

Criteria Provided
Multiple Submitters
No Conflicts

CA385499982

rs_1885117995

2 SubmittersRCV001040708 RCV002051912

NM_001166114.2(PNPLA6):c.1608+2T>C

SNV
Germline

Chr19:7543086

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403115239

rs_2023231095

1 SubmittersRCV001041912

NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)

SNV
Germline

Chr2:240763221

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351327047

rs_2050749062

2 SubmittersRCV001078153

NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)

SNV
Germline

Chr2:240724015

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351306196

rs_572662012

2 SubmittersRCV001078154

NM_014946.4(SPAST):c.1173G>A (p.Leu391=)

SNV
Germline

Chr2:32127022

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA425446654

rs_1679218212

4 SubmittersRCV001090862 RCV001391505

NM_014946.4(SPAST):c.1540A>G (p.Arg514Gly)

SNV
Germline

Chr2:32143339

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346503582

rs_1553319286

2 SubmittersRCV001091363 RCV005093458

NM_014846.4(WASHC5):c.2580C>T (p.Leu860=)

SNV
Germline

Chr8:125044623

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA4873486

rs_375214976

3 SubmittersRCV001092148 RCV001847153 RCV002069609

NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)

SNV
Germline

Chr14:50628137

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389675810

rs_2039539644

4 SubmittersRCV001090531 RCV001847151 RCV003502587

NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter)

SNV
Germline

Chr15:44563298

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392211922

rs_778305085

3 SubmittersRCV001092494 RCV001873456

NM_025137.4(SPG11):c.1603-5T>C

SNV
Germline

Chr15:44633642

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA1139663929

rs_2084149728

2 SubmittersRCV001092498 RCV003600398

NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)

SNV
Germline

Chr15:44663393

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA270113577

rs_957519261

4 SubmittersRCV001092502 RCV001862713

NM_002693.3(POLG):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr15:89329098

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Progressive sclerosing poliodystrophy
Inborn genetic diseases
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725010

rs_753416225

9 SubmittersRCV001093440 RCV001847155 RCV002555968 RCV002554873 RCV003155359 RCV005005036 RCV006705458

NM_003119.4(SPG7):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr16:89526348

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8243732

rs_147673636

6 SubmittersRCV001090550 RCV001228310 RCV001847152 RCV004031224

NM_006612.6(KIF1C):c.714G>A (p.Ser238=)

SNV
Germline

Chr17:5002836

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318651

rs_368886383

3 SubmittersRCV001093147 RCV001312503 RCV001847154

NM_001166114.2(PNPLA6):c.316-2A>T

SNV
Germline

Chr19:7536447

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 39
Ataxia-hypogonadism-choroidal dystrophy syndrome
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA9139430

rs_148045000

5 SubmittersRCV001092939 RCV002555963 RCV004596409 RCV004813755

NM_001166114.2(PNPLA6):c.3343G>A (p.Asp1115Asn)

SNV
Germline

Chr19:7557230

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140432

rs_372763461

2 SubmittersRCV001092941 RCV006465349

NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)

SNV
Germline

Chr12:57582614

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Spastic paraplegia
Hereditary spastic paraplegia 10

Criteria Provided
Conflicting Classifications

CA385517000

rs_1882640177

3 SubmittersRCV001095391 RCV002555972 RCV005253723

NM_001385875.1(ZFYVE27):c.805-5C>T

SNV
Germline

Chr10:97751386

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 33
not specified

Criteria Provided
Conflicting Classifications

CA5635314

rs_535449776

2 SubmittersRCV001108096 RCV004032132

NM_001385875.1(ZFYVE27):c.913G>A (p.Ala305Thr)

SNV
Germline

Chr10:97753053

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 33
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA377997970

rs_1405750745

3 SubmittersRCV001108097 RCV001856443 RCV006347413

NM_004984.4(KIF5A):c.152G>A (p.Arg51His)

SNV
Germline

Chr12:57563461

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided
Inborn genetic diseases
KIF5A-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6652519

rs_773336059

7 SubmittersRCV001111425 RCV002069798 RCV002298873 RCV003246695 RCV004547987 RCV006453541

NM_004984.4(KIF5A):c.1476G>A (p.Glu492=)

SNV
Germline

Chr12:57572174

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA480264797

rs_1227040638

2 SubmittersRCV001109180 RCV003769113

NM_004984.4(KIF5A):c.2466G>C (p.Gly822=)

SNV
Germline

Chr12:57578270

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653132

rs_759472256

2 SubmittersRCV001113504 RCV002556213

NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser)

SNV
Germline

Chr12:57581913

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6653258

rs_371548640

3 SubmittersRCV001114930 RCV001856513 RCV002264190

NM_014363.6(SACS):c.*821A>G

SNV
Germline

Chr13:23329315

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA246646828

rs_145184122

3 SubmittersRCV001114619 RCV001847160 RCV003326541

NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)

SNV
Germline

Chr13:23336482

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6910914

rs_747676277

12 SubmittersRCV001115054 RCV001247856 RCV001269831 RCV001847161 RCV003387965

NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)

SNV
Germline

Chr13:23339861

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911446

rs_143144795

4 SubmittersRCV001112285 RCV001523475 RCV001847159

NM_004984.4(KIF5A):c.2300+7G>A

SNV
Germline

Chr12:57576869

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653069

rs_763362184

2 SubmittersRCV001111514 RCV002069799

NM_015915.5(ATL1):c.1120-15C>T

SNV
Germline

Chr14:50628016

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA7180437

rs_771568686

2 SubmittersRCV001112391

NM_015346.4(ZFYVE26):c.6540C>T (p.Tyr2180=)

SNV
Germline

Chr14:67761414

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239208

rs_142224979

2 SubmittersRCV001121562 RCV001487491

NM_015346.4(ZFYVE26):c.5796C>T (p.Pro1932=)

SNV
Germline

Chr14:67766442

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA486768715

rs_2039062513

2 SubmittersRCV001118124 RCV001436457

NM_015346.4(ZFYVE26):c.1617G>A (p.Ala539=)

SNV
Germline

Chr14:67802101

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240491

rs_771594278

2 SubmittersRCV001119879 RCV001465280

NM_015346.4(ZFYVE26):c.1161C>G (p.Leu387=)

SNV
Germline

Chr14:67805475

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240605

rs_60184489

2 SubmittersRCV001115290 RCV001416999

NM_144599.5(NIPA1):c.8C>T (p.Thr3Ile)

SNV
Germline

Chr15:22786664

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391298155

rs_1361753522

4 SubmittersRCV001119482 RCV006443740

NM_144599.5(NIPA1):c.267G>A (p.Ala89=)

SNV
Germline

Chr15:22812203

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA7426150

rs_751391752

2 SubmittersRCV001117931

NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)

SNV
Germline

Chr15:44563195

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7533836

rs_779900397

3 SubmittersRCV001117108 RCV002468153 RCV002468154

NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)

SNV
Germline

Chr15:44567452

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534035

rs_376245210

4 SubmittersRCV001120687 RCV002468175 RCV002468176 RCV006443742

NM_025137.4(SPG11):c.6283T>C (p.Leu2095=)

SNV
Germline

Chr15:44572743

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA490203416

rs_2082448894

2 SubmittersRCV001115765

NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)

SNV
Germline

Chr15:44584082

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA270079916

rs_570599267

3 SubmittersRCV001118824 RCV002468164 RCV002468163

NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)

SNV
Germline

Chr15:44585717

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7534511

rs_748057725

2 SubmittersRCV001120788

NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)

SNV
Germline

Chr15:44596893

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534773

rs_564171625

4 SubmittersRCV001115849 RCV001847162 RCV004032197

NM_025137.4(SPG11):c.3138C>T (p.Asn1046=)

SNV
Germline

Chr15:44613437

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA490203464

rs_2083512162

2 SubmittersRCV001118921

NM_025137.4(SPG11):c.3132C>G (p.Ala1044=)

SNV
Germline

Chr15:44613443

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535060

rs_770666794

2 SubmittersRCV001120882

NM_025137.4(SPG11):c.1182G>A (p.Gly394=)

SNV
Germline

Chr15:44651765

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535598

rs_199968487

2 SubmittersRCV001120995

NM_025137.4(SPG11):c.39C>T (p.Ala13=)

SNV
Germline

Chr15:44663609

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535970

rs_759646328

2 SubmittersRCV001119110

NM_003119.4(SPG7):c.763C>T (p.Leu255=)

SNV
Germline

Chr16:89529481

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA497175203

rs_2058311848

2 SubmittersRCV001116671

NM_003119.4(SPG7):c.1236G>A (p.Ala412=)

SNV
Germline

Chr16:89532548

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244006

rs_201129878

2 SubmittersRCV001118114

NM_003119.4(SPG7):c.1266C>T (p.Ser422=)

SNV
Germline

Chr16:89532578

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244016

rs_767857665

2 SubmittersRCV001118116

NM_003119.4(SPG7):c.2274C>T (p.Ile758=)

SNV
Germline

Chr16:89556979

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244642

rs_147302322

2 SubmittersRCV001118226

NM_003119.4(SPG7):c.2370G>A (p.Glu790=)

SNV
Germline

Chr16:89557075

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286509984

rs_936520999

2 SubmittersRCV001118228 RCV001530872

NM_003119.4(SPG7):c.2373G>A (p.Pro791=)

SNV
Germline

Chr16:89557078

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244663

rs_768453376

2 SubmittersRCV001118229

NM_015346.4(ZFYVE26):c.5222-12C>G

SNV
Germline

Chr14:67775126

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7239562

rs_764707646

2 SubmittersRCV001121654 RCV002069976

NM_015346.4(ZFYVE26):c.2401+13C>G

SNV
Germline

Chr14:67794158

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240301

rs_77104978

3 SubmittersRCV001118337 RCV001551743 RCV002069912

NM_015346.4(ZFYVE26):c.1272-10T>C

SNV
Germline

Chr14:67804274

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7240561

rs_773153713

3 SubmittersRCV001121863 RCV001485589 RCV002291723

NM_015346.4(ZFYVE26):c.364-12T>C

SNV
Germline

Chr14:67807932

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240806

rs_757340973

2 SubmittersRCV001119969 RCV002069950

NM_025137.4(SPG11):c.7151+11A>C

SNV
Germline

Chr15:44564536

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA270057308

rs_779150349

2 SubmittersRCV001118749

NM_025137.4(SPG11):c.2445-8G>C

SNV
Germline

Chr15:44621942

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA1139663922

rs_777673463

2 SubmittersRCV001115960

NM_003119.4(SPG7):c.619-7C>A

SNV
Germline

Chr16:89526322

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

CA8243722

rs_779835775

3 SubmittersRCV001121555 RCV006455450

NM_001166114.2(PNPLA6):c.186C>G (p.Val62=)

SNV
Germline

Chr19:7535974

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139357

rs_759997114

3 SubmittersRCV001131326 RCV003405335

NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=)

SNV
Germline

Chr19:7536264

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139402

rs_554346890

2 SubmittersRCV001134322

NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=)

SNV
Germline

Chr19:7540215

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139519

rs_200521839

2 SubmittersRCV001135796

NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=)

SNV
Germline

Chr19:7540991

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139597

rs_369082833

2 SubmittersRCV001135797

NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=)

SNV
Germline

Chr19:7550068

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9139921

rs_780340075

2 SubmittersRCV001134444

NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=)

SNV
Germline

Chr19:7553891

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA304878157

rs_1030480370

2 SubmittersRCV001128917

NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=)

SNV
Germline

Chr19:7557226

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140431

rs_770303471

2 SubmittersRCV001132625

NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=)

SNV
Germline

Chr19:7560674

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
PNPLA6-related disorder

Criteria Provided
Conflicting Classifications

CA9140564

rs_146121276

4 SubmittersRCV001129027 RCV001847166 RCV004545076

NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=)

SNV
Germline

Chr19:7561284

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9140658

rs_535388759

3 SubmittersRCV001131716 RCV006446032

NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu)

SNV
Germline

Chr19:7535919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified

Criteria Provided
Conflicting Classifications

CA9139342

rs_372169542

3 SubmittersRCV001131325 RCV004587048

NM_001166114.2(PNPLA6):c.1608+11C>T

SNV
Germline

Chr19:7543095

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA9139875

rs_368627125

3 SubmittersRCV001134442 RCV004813789

NM_001166114.2(PNPLA6):c.2937-4G>A

SNV
Germline

Chr19:7555603

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA631463243

rs_1178206789

2 SubmittersRCV001131580

NM_001166114.2(PNPLA6):c.3211-4G>A

SNV
Germline

Chr19:7556651

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140379

rs_779851141

2 SubmittersRCV001132624

NM_001166114.2(PNPLA6):c.3914-8G>A

SNV
Germline

Chr19:7561200

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
not specified

Criteria Provided
Conflicting Classifications

CA9140643

rs_374861157

3 SubmittersRCV001129031 RCV003235474

NM_002156.5(HSPD1):c.1029A>G (p.Gly343=)

SNV
Germline

Chr2:197489188

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA430559496

rs_1433866863

2 SubmittersRCV001140947 RCV001464884

NM_001244008.2(KIF1A):c.*2403G>A

SNV
Germline

Chr2:240714961

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68128571

rs_115916702

2 SubmittersRCV001143148 RCV003433032

NM_001244008.2(KIF1A):c.*1960G>T

SNV
Germline

Chr2:240715404

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68128881

rs_184324379

2 SubmittersRCV001136583 RCV003438666

NM_001244008.2(KIF1A):c.*1418G>A

SNV
Germline

Chr2:240715946

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68129448

rs_115877951

2 SubmittersRCV001141410 RCV003438673

NM_001244008.2(KIF1A):c.*1241G>T

SNV
Germline

Chr2:240716123

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68129590

rs_114566813

2 SubmittersRCV001143253 RCV003438676

NM_001244008.2(KIF1A):c.4794A>T (p.Leu1598=)

SNV
Germline

Chr2:240720988

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
not specified
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207296

rs_753060457

3 SubmittersRCV001136785 RCV001819839 RCV003769647

NM_001244008.2(KIF1A):c.4717G>A (p.Val1573Ile)

SNV
Germline

Chr2:240721833

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA351302953

rs_1401684116

3 SubmittersRCV001136788 RCV001218826 RCV001847168

NM_001244008.2(KIF1A):c.4332G>T (p.Arg1444=)

SNV
Germline

Chr2:240723545

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA68138600

rs_776552179

2 SubmittersRCV001139022 RCV002070638

NM_001244008.2(KIF1A):c.3911G>A (p.Arg1304Gln)

SNV
Germline

Chr2:240737159

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207581

rs_762988579

4 SubmittersRCV001141639 RCV001836966 RCV002032348

NM_001244008.2(KIF1A):c.3009C>T (p.Gly1003=)

SNV
Germline

Chr2:240747290

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207939

rs_191727100

2 SubmittersRCV001139123 RCV002070642

NM_001244008.2(KIF1A):c.2547C>T (p.Phe849=)

SNV
Germline

Chr2:240758395

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA432031953

rs_2050120947

2 SubmittersRCV001141746 RCV003769677

NM_001244008.2(KIF1A):c.2331C>G (p.Pro777=)

SNV
Germline

Chr2:240760778

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208125

rs_201495091

2 SubmittersRCV001141750 RCV002557011

NM_001244008.2(KIF1A):c.2040G>A (p.Leu680=)

SNV
Germline

Chr2:240762795

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA432234484

rs_2050689146

2 SubmittersRCV001143564 RCV006557050

NM_001244008.2(KIF1A):c.1271C>A (p.Ala424Asp)

SNV
Germline

Chr2:240771041

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351330547

rs_780212657

2 SubmittersRCV001136991 RCV001300601

NM_014946.4(SPAST):c.30G>A (p.Lys10=)

SNV
Germline

Chr2:32063861

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600459

rs_768928614

3 SubmittersRCV001847171 RCV001141198

NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)

SNV
Germline

Chr2:32063960

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600498

rs_542793579

3 SubmittersRCV001141200

NM_014946.4(SPAST):c.137A>G (p.His46Arg)

SNV
Germline

Chr2:32063968

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1600500

rs_778952334

3 SubmittersRCV001141201 RCV004726901

NM_014946.4(SPAST):c.626C>T (p.Thr209Met)

SNV
Germline

Chr2:32098835

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600661

rs_537855621

4 SubmittersRCV002557045 RCV001143044

NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)

SNV
Germline

Chr2:32115709

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600735

rs_773193617

4 SubmittersRCV001815024 RCV001138298

NM_002156.5(HSPD1):c.175-8T>C

SNV
Germline

Chr2:197497400

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 13
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2043657

rs_772029212

2 SubmittersRCV001138051 RCV003588720

NM_001244008.2(KIF1A):c.864+11C>T

SNV
Germline

Chr2:240783033

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified

Criteria Provided
Conflicting Classifications

CA2208633

rs_377722824

3 SubmittersRCV001139245 RCV002070649 RCV005236634

NM_014855.3(AP5Z1):c.351C>T (p.Ser117=)

SNV
Germline

Chr7:4781739

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137149

rs_374912181

2 SubmittersRCV001159696

NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val)

SNV
Germline

Chr7:4783341

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137196

rs_372539355

5 SubmittersRCV001159697 RCV002473209 RCV004639486

NM_014855.3(AP5Z1):c.540G>A (p.Leu180=)

SNV
Germline

Chr7:4783717

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137261

rs_768017182

2 SubmittersRCV001161105

NM_014855.3(AP5Z1):c.631G>A (p.Val211Ile)

SNV
Germline

Chr7:4784212

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137299

rs_771385792

4 SubmittersRCV001162660 RCV001508568 RCV006302279

NM_014855.3(AP5Z1):c.660A>G (p.Thr220=)

SNV
Germline

Chr7:4784241

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4137310

rs_756140557

3 SubmittersRCV001162661 RCV003433064

NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=)

SNV
Germline

Chr7:4787678

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137773

rs_558636596

2 SubmittersRCV001162758

NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=)

SNV
Germline

Chr7:4789864

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4138009

rs_773950276

4 SubmittersRCV001161321 RCV001847175 RCV004756183

NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=)

SNV
Germline

Chr7:4789909

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4138023

rs_774921196

4 SubmittersRCV001162872 RCV001847178 RCV006443761

NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=)

SNV
Germline

Chr7:4790708

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4138244

rs_375030531

2 SubmittersRCV001164945

NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=)

SNV
Germline

Chr7:4790885

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA453630180

rs_1781745482

2 SubmittersRCV001160024

NM_014855.3(AP5Z1):c.*150G>A

SNV
Germline

Chr7:4791535

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA153037336

rs_186823399

2 SubmittersRCV001165058 RCV002462336

NM_014855.3(AP5Z1):c.*856G>A

SNV
Germline

Chr7:4792241

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA153038469

rs_148032002

2 SubmittersRCV001158462 RCV001847173

NM_014855.3(AP5Z1):c.*1594C>A

SNV
Germline

Chr7:4792979

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA153039627

rs_138654444

2 SubmittersRCV001161778 RCV001847176

NM_014855.3(AP5Z1):c.*2004C>T

SNV
Germline

Chr7:4793389

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA153040159

rs_143513418

2 SubmittersRCV001165406 RCV001847181

NM_014855.3(AP5Z1):c.*2197A>G

SNV
Germline

Chr7:4793582

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA153040409

rs_187056670

2 SubmittersRCV001158678 RCV001847174

NM_014846.4(WASHC5):c.3282G>A (p.Gln1094=)

SNV
Germline

Chr8:125032294

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA4873261

rs_749478956

2 SubmittersRCV001163429 RCV002559566

NM_014846.4(WASHC5):c.3118C>G (p.Pro1040Ala)

SNV
Germline

Chr8:125037300

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA4873307

rs_775752911

2 SubmittersRCV001163431 RCV001882521

NM_004820.5(CYP7B1):c.1044C>T (p.Ser348=)

SNV
Germline

Chr8:64615039

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4764085

rs_145292008

2 SubmittersRCV001161937 RCV005056966

NM_004820.5(CYP7B1):c.830A>C (p.His277Pro)

SNV
Germline

Chr8:64615711

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA178389519

rs_145521868

3 SubmittersRCV001161938 RCV003588721 RCV002557381

NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)

SNV
Germline

Chr8:64615784

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4764158

rs_200328073

5 SubmittersRCV001161939 RCV002071008 RCV003163351 RCV003482331

NM_004820.5(CYP7B1):c.177C>A (p.Val59=)

SNV
Germline

Chr8:64624485

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4764277

rs_763202430

2 SubmittersRCV001163459 RCV001468792

NM_004820.5(CYP7B1):c.-144C>G

SNV
Germline

Chr8:64798731

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA179061904

rs_191075257

2 SubmittersRCV001158840 RCV001593297

NM_014855.3(AP5Z1):c.790+7G>A

SNV
Germline

Chr7:4784378

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137363

rs_759449685

2 SubmittersRCV001159800

NM_014855.3(AP5Z1):c.1455-12C>T

SNV
Germline

Chr7:4788142

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA153030131

rs_1038026978

2 SubmittersRCV001164826

NM_014855.3(AP5Z1):c.1707+14C>T

SNV
Germline

Chr7:4788965

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137984

rs_759055397

2 SubmittersRCV001161320

NM_014855.3(AP5Z1):c.1806-15C>T

SNV
Germline

Chr7:4790444

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4138135

rs_201620155

2 SubmittersRCV001162873

NM_014855.3(AP5Z1):c.1938+11C>T

SNV
Germline

Chr7:4790602

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4138194

rs_201888478

2 SubmittersRCV001164942

NM_014846.4(WASHC5):c.2199+14A>G

SNV
Germline

Chr8:125050550

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA4873590

rs_754889043

2 SubmittersRCV001163721 RCV002558575

NM_015046.7(SETX):c.*254C>T

SNV
Germline

Chr9:132263985

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA200793094

rs_11545230

3 SubmittersRCV001167068 RCV001167067 RCV001847182

NM_015046.7(SETX):c.6435C>T (p.Ile2145=)

SNV
Germline

Chr9:132283375

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
SETX-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5296709

rs_374110190

7 SubmittersRCV001167195 RCV001167770 RCV001760116 RCV002068024 RCV001847183 RCV004538386 RCV006455481

NM_015046.7(SETX):c.5271A>G (p.Glu1757=)

SNV
Germline

Chr9:132326327

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
not specified
Hereditary spastic paraplegia
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297048

rs_200499115

9 SubmittersRCV001167852 RCV001167851 RCV001486121 RCV001700982 RCV001664719 RCV001847184 RCV004545094

NM_001199753.2(CPT1C):c.899G>A (p.Arg300His)

SNV
Germline

Chr19:49705233

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73

Criteria Provided
Conflicting Classifications

CA309512509

rs_753309074

2 SubmittersRCV001169979

NM_024306.5(FA2H):c.620C>T (p.Thr207Met)

SNV
Germline

Chr16:74719154

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA8170450

rs_372445274

5 SubmittersRCV001195534 RCV001542494 RCV001859178

NM_014946.4(SPAST):c.519A>G (p.Arg173=)

SNV
Germline

Chr2:32089538

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA425581413

rs_1677627735

2 SubmittersRCV001198739

NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter)

SNV
Unknown

Chr14:67782999

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390170732

rs_2039544464

1 SubmittersRCV001196685

NM_001253852.3(AP4B1):c.1510+2T>C

SNV
Unknown

Chr1:113896256

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

CA341709697

rs_1667449135

1 SubmittersRCV001199093

NM_001253852.3(AP4B1):c.114-2A>G

SNV
Germline

Chr1:113902864

Pathogenic

Hereditary spastic paraplegia 47
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA28974125

rs_879255396

4 SubmittersRCV001195992 RCV001849481 RCV002451409

NM_001244008.2(KIF1A):c.3640+12C>T

SNV
Germline

Chr2:240742917

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA540549924

rs_1403885809

2 SubmittersRCV001196026 RCV002069277

NM_001244008.2(KIF1A):c.3064-13C>T

SNV
Germline

Chr2:240746190

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207909

rs_779347174

2 SubmittersRCV001198619 RCV002071853

NM_014946.4(SPAST):c.870+1G>T

SNV
Germline

Chr2:32114826

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346498946

rs_1553314978

5 SubmittersRCV001198064 RCV004697065

NM_025137.4(SPG11):c.7152-6A>G

SNV
Germline

Chr15:44563307

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA1139663880

rs_2082233766

2 SubmittersRCV001197028

NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro)

SNV
Germline

Chr14:67790688

Pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Single Submitter

CA390173994

rs_2039789225

2 SubmittersRCV001200049 RCV002560270

NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)

SNV
Germline

Chr16:89553093

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8244443

rs_368541637

7 SubmittersRCV001200106 RCV001542601 RCV001847187

NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys)

SNV
Germline

Chr2:240719820

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207236

rs_764970503

3 SubmittersRCV001334236 RCV001221580 RCV002281173

NM_001244008.2(KIF1A):c.4880C>T (p.Pro1627Leu)

SNV
Germline

Chr2:240719915

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207256

rs_763752868

2 SubmittersRCV001215834 RCV002339564

NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp)

SNV
Germline

Chr2:240720936

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided
Intellectual disability
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA2207285

rs_368124753

5 SubmittersRCV001220289 RCV001587244 RCV001252291 RCV005626357

NM_001244008.2(KIF1A):c.2357C>T (p.Thr786Met)

SNV
Germline

Chr2:240760752

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208118

rs_766807173

4 SubmittersRCV001215646 RCV004789479 RCV003339536 RCV006272434

NM_014946.4(SPAST):c.1325A>T (p.Glu442Val)

SNV
Germline

Chr2:32136880

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502166

rs_1553318215

1 SubmittersRCV001215693

NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter)

SNV
Germline

Chr2:86254802

Pathogenic

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347717637

rs_1676463508

2 SubmittersRCV001224005 RCV004998744

NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter)

SNV
Germline

Chr7:4785585

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 48
Hereditary spastic paraplegia
Condition: not provided
Macular dystrophy with or without extraocular features

Criteria Provided
Multiple Submitters
No Conflicts

CA4137573

rs_762066700

5 SubmittersRCV001220110 RCV001847197 RCV004720800 RCV005255665

NM_001351169.2(NT5C2):c.1371T>A (p.Tyr457Ter)

SNV
Germline

Chr10:103090689

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA377968978

rs_1419090736

1 SubmittersRCV001224426

NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro)

SNV
Germline

Chr11:62691281

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17

Criteria Provided
Conflicting Classifications

CA6053388

rs_779199750

3 SubmittersRCV001224191 RCV002418777 RCV005050293

NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)

SNV
Germline

Chr12:57564956

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 10
KIF5A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6652601

rs_748551786

5 SubmittersRCV001215426 RCV001268563 RCV003336339 RCV004548072

NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn)

SNV
Germline

Chr12:57628713

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 26

Criteria Provided
Conflicting Classifications

CA385496468

rs_1471760048

2 SubmittersRCV001218621 RCV001391542

NM_015915.5(ATL1):c.776C>T (p.Ser259Phe)

SNV
Germline

Chr14:50614425

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389671673

rs_119476047

3 SubmittersRCV001221487 RCV001268896

NM_015915.5(ATL1):c.1119G>A (p.Glu373=)

SNV
Germline

Chr14:50623248

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA486191695

rs_2039485066

1 SubmittersRCV001223499

NM_015346.4(ZFYVE26):c.3022C>T (p.Arg1008Ter)

SNV
Germline

Chr14:67786231

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA262853095

rs_766888372

2 SubmittersRCV001219596 RCV003329383

NM_144599.5(NIPA1):c.731A>G (p.Gln244Arg)

SNV
Germline

Chr15:22823980

Pathogenic

Hereditary spastic paraplegia 6

Criteria Provided
Single Submitter

CA391304036

rs_1895598333

1 SubmittersRCV001219670

NM_025137.4(SPG11):c.2445G>A (p.Arg815=)

SNV
Germline

Chr15:44621934

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535235

rs_748048928

2 SubmittersRCV001222622 RCV002429942

NM_025137.4(SPG11):c.382A>G (p.Thr128Ala)

SNV
Germline

Chr15:44660492

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535857

rs_138969879

4 SubmittersRCV001224794 RCV002563059 RCV005057123 RCV006279458

NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)

SNV
Germline

Chr15:44663617

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535973

rs_529316227

3 SubmittersRCV001218744 RCV002298906 RCV002468190 RCV002468191

NM_024306.5(FA2H):c.806G>A (p.Arg269His)

SNV
Germline

Chr16:74716580

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 35
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA396769297

rs_1429546236

6 SubmittersRCV001219726 RCV001250165 RCV001819910

NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)

SNV
Germline

Chr16:89526449

Pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8243746

rs_779055639

7 SubmittersRCV001220525 RCV001819912

NM_000533.5(PLP1):c.441A>T (p.Gly147=)

SNV
Germline

ChrX:103786714

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA518092061

rs_1602383021

2 SubmittersRCV001215006 RCV004595578

NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)

SNV
Germline

Chr1:113900124

Pathogenic

Hereditary spastic paraplegia 47
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1015988

rs_746462207

4 SubmittersRCV001211765 RCV003127686

NM_001244008.2(KIF1A):c.350G>A (p.Gly117Asp)

SNV
Germline

Chr2:240788064

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351309987

rs_1200817308

2 SubmittersRCV001205549 RCV004726953

NM_014946.4(SPAST):c.928A>T (p.Lys310Ter)

SNV
Germline

Chr2:32115759

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346499194

rs_1678806430

2 SubmittersRCV001213809 RCV001288799

NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu)

SNV
Germline

Chr2:32136567

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346501834

rs_1553318161

2 SubmittersRCV001213726 RCV001819904

NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)

SNV
Germline

Chr2:32136945

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA346502314

rs_1679556566

3 SubmittersRCV001213823 RCV001847192

NM_014946.4(SPAST):c.1646T>C (p.Leu549Pro)

SNV
Germline

Chr2:32144966

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504215

rs_1553319534

1 SubmittersRCV001209517

NM_001371279.1(REEP1):c.59C>T (p.Ala20Val)

SNV
Germline

Chr2:86282216

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347722689

rs_121918262

1 SubmittersRCV001213470

NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:86337509

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA347725576

rs_1681107508

3 SubmittersRCV001210927 RCV001268396 RCV004671256

NM_183075.3(CYP2U1):c.557G>A (p.Arg186His)

SNV
Germline

Chr4:107945036

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 56
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3037029

rs_746319505

6 SubmittersRCV001211756 RCV001847191 RCV004761982 RCV004796374 RCV005318649

NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)

SNV
Germline

Chr8:125076477

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome 1

Criteria Provided
Conflicting Classifications

CA4874019

rs_765982075

2 SubmittersRCV001204701 RCV004726950

NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr)

SNV
Germline

Chr8:64596817

Conflicting classifications of pathogenicity

Spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A
not specified

Criteria Provided
Conflicting Classifications

CA4763994

rs_761060634

4 SubmittersRCV001212781 RCV003483789 RCV004587071

NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys)

SNV
Germline

Chr8:64615122

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA178389285

rs_866340497

4 SubmittersRCV001212782 RCV002282486 RCV003483790 RCV005639287

NM_025137.4(SPG11):c.6753G>A (p.Trp2251Ter)

SNV
Germline

Chr15:44567425

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392214526

rs_2082333064

1 SubmittersRCV001208597

NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)

SNV
Germline

Chr15:44570544

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534127

rs_543344637

2 SubmittersRCV001204169 RCV002491612

NM_025137.4(SPG11):c.5815G>T (p.Glu1939Ter)

SNV
Germline

Chr15:44583865

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392221027

rs_2082702986

1 SubmittersRCV001208596

NM_025137.4(SPG11):c.3749T>C (p.Ile1250Thr)

SNV
Germline

Chr15:44598774

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534855

rs_763244237

2 SubmittersRCV001203681 RCV003363151

NM_025137.4(SPG11):c.377A>G (p.Asp126Gly)

SNV
Germline

Chr15:44660497

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535860

rs_142097614

2 SubmittersRCV001202878 RCV002348657

NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)

SNV
Germline

Chr16:74726249

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA16609640

rs_1463651673

5 SubmittersRCV001205551 RCV002249795 RCV003223418

NM_001166114.2(PNPLA6):c.2466C>T (p.Ser822=)

SNV
Germline

Chr19:7554555

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9140133

rs_780346245

2 SubmittersRCV001210357 RCV004960544

NM_014946.4(SPAST):c.1004+1G>C

SNV
Germline

Chr2:32115836

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499377

rs_1553315236

1 SubmittersRCV001213274

NM_014946.4(SPAST):c.1537-1G>A

SNV
Germline

Chr2:32143335

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346503561

rs_1553319280

3 SubmittersRCV001203793 RCV005051868

NM_001371279.1(REEP1):c.106-2A>T

SNV
Germline

Chr2:86264043

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA347720188

rs_1677010564

2 SubmittersRCV001207713 RCV004792796

NM_001010867.4(IBA57):c.341+1G>A

SNV
Germline

Chr1:228166158

Likely pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Single Submitter

CA345106935

rs_1250537283

1 SubmittersRCV001219724

NM_014946.4(SPAST):c.1098+1G>A

SNV
Germline

Chr2:32116213

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346499892

rs_1377020559

3 SubmittersRCV001218499 RCV005641985

NM_014946.4(SPAST):c.1493+1G>A

SNV
Germline

Chr2:32137189

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502550

rs_1553318351

3 SubmittersRCV001219396 RCV001664760

NM_025137.4(SPG11):c.2444+1G>A

SNV
Germline

Chr15:44622219

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535255

rs_312262743

3 SubmittersRCV001220084

NM_003119.4(SPG7):c.759-2A>G

SNV
Germline

Chr16:89529475

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8243777

rs_770299071

9 SubmittersRCV001221055 RCV001267934

NM_000533.5(PLP1):c.454-314T>G

SNV
Germline

ChrX:103787484

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA1139667738

rs_2074506871

1 SubmittersRCV001225011

NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu)

SNV
Germline

Chr1:109630288

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Condition: not provided
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63

Criteria Provided
Conflicting Classifications

CA993269

rs_761542502

4 SubmittersRCV001234925 RCV003318673 RCV003346399 RCV003346398

NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr)

SNV
Germline

Chr2:240718114

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207120

rs_773017134

2 SubmittersRCV001231128 RCV002497786

NM_014946.4(SPAST):c.157T>G (p.Phe53Val)

SNV
Germline

Chr2:32063988

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1600506

rs_200029938

2 SubmittersRCV001237012 RCV003883583

NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)

SNV
Germline

Chr2:32064133

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346602193

rs_746263735

4 SubmittersRCV001233082 RCV001291596

NM_014946.4(SPAST):c.302C>T (p.Ser101Leu)

SNV
Germline

Chr2:32064133

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600545

rs_746263735

2 SubmittersRCV002567885 RCV001233634

NM_014946.4(SPAST):c.1322A>T (p.Asp441Val)

SNV
Germline

Chr2:32136877

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502158

rs_121908512

1 SubmittersRCV001238726

NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter)

SNV
Germline

Chr2:32137163

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502496

rs_1553318336

3 SubmittersRCV001228446 RCV002473231

NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)

SNV
Germline

Chr2:32137178

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346502530

rs_1060502228

2 SubmittersRCV001234587

NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)

SNV
Germline

Chr8:64596706

Conflicting classifications of pathogenicity

Spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3

Criteria Provided
Conflicting Classifications

CA4763978

rs_755729966

3 SubmittersRCV001235957 RCV001332519 RCV002484291

NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala)

SNV
Germline

Chr11:62702488

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 2
Condition: not provided
Inborn genetic diseases
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy
Neuronopathy, distal hereditary motor, type 5C

Criteria Provided
Conflicting Classifications

CA6053567

rs_137930278

4 SubmittersRCV001228343 RCV001310601 RCV002436884 RCV005050297

NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)

SNV
Germline

Chr13:23339062

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911342

rs_770007806

3 SubmittersRCV001225970 RCV001828802 RCV001847199

NM_014844.5(TECPR2):c.3072G>A (p.Trp1024Ter)

SNV
Germline

Chr14:102445944

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

CA7358120

rs_765880201

3 SubmittersRCV001230412

NM_015346.4(ZFYVE26):c.6141C>A (p.Tyr2047Ter)

SNV
Germline

Chr14:67762690

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA262824186

rs_1006249036

2 SubmittersRCV001232508 RCV005012647

NM_015346.4(ZFYVE26):c.3061C>T (p.Arg1021Ter)

SNV
Germline

Chr14:67786192

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390173078

rs_2039651443

2 SubmittersRCV001226534 RCV003130199

NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)

SNV
Germline

Chr16:74716421

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 35
not specified
Spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8170345

rs_373010581

5 SubmittersRCV001235650 RCV002471051 RCV003155377 RCV001644956 RCV004797914

NM_001244008.2(KIF1A):c.3604C>T (p.Arg1202Cys)

SNV
Germline

Chr2:240742965

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207735

rs_759228543

2 SubmittersRCV001245860 RCV002285464

NM_014855.3(AP5Z1):c.1523C>G (p.Ala508Gly)

SNV
Germline

Chr7:4788222

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137850

rs_370879999

3 SubmittersRCV001246467 RCV001751497 RCV004034864

NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys)

SNV
Germline

Chr10:95847552

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Hereditary spastic paraplegia
Familial cancer of breast
Inborn genetic diseases
Colon adenocarcinoma
Lung cancer
Gastric cancer

Criteria Provided
Conflicting Classifications

CA5621501

rs_373236811

4 SubmittersRCV001240553 RCV001847205 RCV005909139 RCV005328645 RCV005909140 RCV005909142 RCV005909141

NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)

SNV
Germline

Chr12:57576327

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6653018

rs_554894381

3 SubmittersRCV001244777 RCV001391464 RCV004738216

NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)

SNV
Germline

Chr13:23333929

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910534

rs_775506976

3 SubmittersRCV001247263 RCV001830006 RCV001847210

NM_014844.5(TECPR2):c.1546G>A (p.Val516Met)

SNV
Germline

Chr14:102434363

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7357750

rs_141697267

3 SubmittersRCV001245739 RCV002564097

NM_025137.4(SPG11):c.7105C>T (p.Gln2369Ter)

SNV
Germline

Chr15:44564593

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392212542

rs_1397432412

1 SubmittersRCV001244849

NM_025137.4(SPG11):c.7056C>A (p.Tyr2352Ter)

SNV
Germline

Chr15:44564642

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392212793

rs_746329317

1 SubmittersRCV001247418

NM_025137.4(SPG11):c.3595T>G (p.Phe1199Val)

SNV
Germline

Chr15:44600558

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534895

rs_774716138

3 SubmittersRCV001242569 RCV005255669

NM_025137.4(SPG11):c.789A>G (p.Lys263=)

SNV
Germline

Chr15:44657175

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535721

rs_764439012

3 SubmittersRCV001244779 RCV002468204 RCV002221269 RCV002468205

NM_001166114.2(PNPLA6):c.1321C>T (p.Gln441Ter)

SNV
Germline

Chr19:7542629

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403111860

rs_2023204790

1 SubmittersRCV001240898

NM_001166114.2(PNPLA6):c.1343C>G (p.Ser448Cys)

SNV
Germline

Chr19:7542651

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9139774

rs_144028775

4 SubmittersRCV001246814 RCV002069313 RCV003263900

NM_001166114.2(PNPLA6):c.3647C>T (p.Pro1216Leu)

SNV
Germline

Chr19:7559099

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9140526

rs_762047744

2 SubmittersRCV001243647 RCV002564070

NM_025137.4(SPG11):c.5866+1G>A

SNV
Germline

Chr15:44583813

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7534333

rs_765725393

8 SubmittersRCV001226466 RCV001780156 RCV005012641

NM_025137.4(SPG11):c.3291+3A>G

SNV
Germline

Chr15:44610837

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7535020

rs_773192977

4 SubmittersRCV001229274 RCV002322106 RCV006279470 RCV003323823

NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)

SNV
Germline

Chr7:100106494

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 50
Intellectual disability
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368475680

rs_1562912305

5 SubmittersRCV001249634 RCV001260896 RCV001849488 RCV004720819

NM_001371279.1(REEP1):c.303+2T>C

SNV
Germline

Chr2:86254692

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347716881

rs_1676453652

1 SubmittersRCV001271098

NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln)

SNV
Germline

Chr12:57567602

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385499530

rs_1594915468

1 SubmittersRCV001250416

NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)

SNV
Germline

Chr7:4785048

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 48
Condition: not provided
Macular dystrophy with or without extraocular features
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA4137457

rs_376075583

6 SubmittersRCV001251146 RCV003227016 RCV005255671 RCV004814023

NM_015915.5(ATL1):c.574C>T (p.Leu192Phe)

SNV
Germline

Chr14:50595576

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389668808

rs_2039208042

4 SubmittersRCV001251114 RCV005866896 RCV006656037

NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter)

SNV
Germline

Chr15:44589306

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392224231

rs_2082843264

1 SubmittersRCV001251104

NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)

SNV
Germline

Chr2:240773246

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351296358

rs_387907259

4 SubmittersRCV001251223 RCV001879817 RCV006275074

NM_001244008.2(KIF1A):c.756C>G (p.Ser252Arg)

SNV
Germline

Chr2:240783781

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA351303160

rs_555641774

2 SubmittersRCV001251230 RCV005582642

NM_001244008.2(KIF1A):c.518T>C (p.Leu173Pro)

SNV
Germline

Chr2:240786425

Likely pathogenic

Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA351306341

rs_2054755647

2 SubmittersRCV001251220 RCV004629524

NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)

SNV
Germline

Chr2:240786443

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351306501

rs_2054757914

5 SubmittersRCV001251216 RCV001879816 RCV002511065

NM_001244008.2(KIF1A):c.317C>A (p.Thr106Asn)

SNV
Unknown

Chr2:240788097

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351310173

rs_2055181124

1 SubmittersRCV001251232

NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)

SNV
Germline

Chr2:240722473

Conflicting classifications of pathogenicity

Intellectual disability
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351303570

rs_1468401006

3 SubmittersRCV001252292 RCV001879848 RCV004799259

NM_001253852.3(AP4B1):c.1115-2A>G

SNV
Germline

Chr1:113898803

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341711836

rs_1210851910

4 SubmittersRCV001253107 RCV001849491 RCV002298916

NM_002361.4(MAG):c.1126C>T (p.Gln376Ter)

SNV
Germline

Chr19:35302603

Pathogenic

Hereditary spastic paraplegia 75

Criteria Provided
Single Submitter

CA405313344

rs_2066456693

1 SubmittersRCV001254027

NM_002361.4(MAG):c.1522C>T (p.Arg508Ter)

SNV
Germline

Chr19:35310549

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 75

Criteria Provided
Multiple Submitters
No Conflicts

CA405316612

rs_2066519362

2 SubmittersRCV001254028

NM_001244008.2(KIF1A):c.38G>T (p.Arg13Leu)

SNV
Germline

Chr2:240797715

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351315928

rs_797045050

1 SubmittersRCV001255725

NM_025137.4(SPG11):c.6205+1G>A

SNV
Germline

Chr15:44573546

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7534240

rs_753650233

2 SubmittersRCV001255855

NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)

SNV
Unknown

Chr19:49692254

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

CA9581656

rs_751933977

1 SubmittersRCV001256201

NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter)

SNV
Germline

Chr14:102414726

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

CA391041777

rs_1888974364

2 SubmittersRCV001257142

NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro)

SNV
Germline

Chr2:240773179

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA351295385

rs_2052246987

2 SubmittersRCV001258334 RCV001847215

NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)

SNV
Germline

Chr16:89553824

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397433743

rs_373143136

2 SubmittersRCV001260249

NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr7:100101724

Pathogenic/Likely pathogenic

Intellectual disability
Hereditary spastic paraplegia 50
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4374370

rs_777220438

6 SubmittersRCV001260895 RCV001879998 RCV002246252

NM_014946.4(SPAST):c.1322-2A>G

SNV
Unknown

Chr2:32136875

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502152

rs_1553318208

1 SubmittersRCV001261168

NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)

SNV
Unknown

Chr14:50628383

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389676361

rs_2039543082

1 SubmittersRCV001261529

NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter)

SNV
Germline

Chr7:100104095

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Multiple Submitters
No Conflicts

CA368468589

rs_1796279189

2 SubmittersRCV001261614

NM_001244008.2(KIF1A):c.2464C>T (p.Arg822Trp)

SNV
Germline

Chr2:240758478

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351324021

rs_1328033713

3 SubmittersRCV001262252 RCV002272436 RCV002537629

NM_004722.4(AP4M1):c.407C>T (p.Thr136Met)

SNV
Germline

Chr7:100103464

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50

Criteria Provided
Conflicting Classifications

CA4374610

rs_138131967

2 SubmittersRCV001880056

NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)

SNV
Germline

Chr8:125047222

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome 1

Criteria Provided
Conflicting Classifications

CA4873512

rs_749703625

3 SubmittersRCV001267232 RCV003770396 RCV004556082

NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)

SNV
Germline

Chr14:50628131

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA389675796

rs_2039539459

4 SubmittersRCV001267476 RCV001391396

NM_025137.4(SPG11):c.5866+5G>C

SNV
Germline

Chr15:44583809

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA1139663870

rs_1256036525

2 SubmittersRCV001266813 RCV003495239

NM_000533.5(PLP1):c.696+1G>A

SNV
Germline

ChrX:103788511

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided
Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA414104455

rs_113897548

4 SubmittersRCV001266006 RCV003319459 RCV003512111 RCV004595587

NM_014946.4(SPAST):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr2:32064069

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346601857

rs_1676403099

4 SubmittersRCV001268263 RCV005057195

NM_014946.4(SPAST):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr2:32116177

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346499765

rs_1678826642

2 SubmittersRCV001268317 RCV005094282

NM_014946.4(SPAST):c.1245+6T>G

SNV
Germline

Chr2:32128485

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1139656822

rs_1553317050

5 SubmittersRCV001268913 RCV001376806

NM_014946.4(SPAST):c.1379G>A (p.Arg460His)

SNV
Germline

Chr2:32136934

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA346502290

rs_1553318241

3 SubmittersRCV001268496 RCV001377876 RCV001847217

NM_014946.4(SPAST):c.1493+2T>A

SNV
Germline

Chr2:32137190

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502553

rs_1553318353

3 SubmittersRCV001268480 RCV002246265

NM_001371279.1(REEP1):c.32+1G>T

SNV
Germline

Chr2:86337478

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 31
REEP1-related disorder

Criteria Provided
Single Submitter

CA347725420

rs_1681105619

3 SubmittersRCV001267968 RCV004769985 RCV004731114

NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter)

SNV
Germline

Chr12:57572646

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 10
Myoclonus, intractable, neonatal

Criteria Provided
Conflicting Classifications

CA6652887

rs_185438769

3 SubmittersRCV001268732 RCV006738307

NM_015346.4(ZFYVE26):c.2263C>T (p.Arg755Ter)

SNV
Germline

Chr14:67797741

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390174810

rs_1297072049

3 SubmittersRCV001268879 RCV001880171 RCV005012706

NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr15:44622233

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535257

rs_756134516

7 SubmittersRCV001268650 RCV001386275 RCV002451632 RCV005012705

NM_001166114.2(PNPLA6):c.3265C>T (p.Arg1089Ter)

SNV
Germline

Chr19:7556709

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Multiple Submitters
No Conflicts

CA304880046

rs_562113164

2 SubmittersRCV001267930 RCV003617919

NM_001244008.2(KIF1A):c.2582+1G>A

SNV
Germline

Chr2:240758359

Pathogenic/Likely pathogenic

Spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA351323293

rs_2125874950

2 SubmittersRCV001391469 RCV005213512

NM_001244008.2(KIF1A):c.1013A>G (p.Tyr338Cys)

SNV
Germline

Chr2:240774207

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351296704

rs_2125976707

2 SubmittersRCV001391364

NM_001244008.2(KIF1A):c.1001C>T (p.Ala334Val)

SNV
Unknown

Chr2:240774219

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351296766

rs_2125976763

1 SubmittersRCV001391363

NM_001244008.2(KIF1A):c.890A>G (p.Lys297Arg)

SNV
Germline

Chr2:240775919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351297961

rs_1250934752

2 SubmittersRCV001391605 RCV001880215

NM_001244008.2(KIF1A):c.841G>C (p.Val281Leu)

SNV
Unknown

Chr2:240783067

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351302544

rs_2126049787

1 SubmittersRCV001391604

NM_001244008.2(KIF1A):c.801G>T (p.Glu267Asp)

SNV
Germline

Chr2:240783107

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351302706

rs_2126050077

2 SubmittersRCV001391602 RCV002542863

NM_001244008.2(KIF1A):c.742G>A (p.Asp248Asn)

SNV
Germline

Chr2:240783795

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA351303293

rs_2126054501

2 SubmittersRCV001391601 RCV001847224

NM_001244008.2(KIF1A):c.658G>T (p.Val220Phe)

SNV
Unknown

Chr2:240785051

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351304718

rs_201314877

1 SubmittersRCV001391600

NM_001244008.2(KIF1A):c.644G>A (p.Ser215Asn)

SNV
Unknown

Chr2:240785065

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351304806

rs_2126062641

1 SubmittersRCV001391599

NM_001244008.2(KIF1A):c.521T>C (p.Leu174Pro)

SNV
Unknown

Chr2:240786422

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351306293

rs_2126071436

1 SubmittersRCV001391598

NM_001244008.2(KIF1A):c.232G>C (p.Gly78Arg)

SNV
Unknown

Chr2:240788182

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351310814

rs_1057518760

1 SubmittersRCV001391595

NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu)

SNV
Germline

Chr2:240788197

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208848

rs_770463399

4 SubmittersRCV001325843 RCV001354770 RCV001391593 RCV006372404

NM_001244008.2(KIF1A):c.206C>G (p.Ser69Trp)

SNV
Unknown

Chr2:240788208

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351310990

rs_786200949

1 SubmittersRCV001391592

NM_001244008.2(KIF1A):c.76T>C (p.Cys26Arg)

SNV
Unknown

Chr2:240797677

Pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351315697

rs_2126147743

1 SubmittersRCV001391591

NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)

SNV
Germline

Chr2:32063996

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346601539

rs_368951498

2 SubmittersRCV001381114

NM_014946.4(SPAST):c.447T>A (p.Tyr149Ter)

SNV
Germline

Chr2:32087523

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346603165

rs_1553399498

2 SubmittersRCV001391486

NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)

SNV
Germline

Chr2:32089596

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346603591

rs_1553400013

2 SubmittersRCV001391487

NM_014946.4(SPAST):c.748A>T (p.Lys250Ter)

SNV
Germline

Chr2:32114703

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346498464

rs_1318536893

2 SubmittersRCV001391488

NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter)

SNV
Germline

Chr2:32114762

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498685

rs_771388402

2 SubmittersRCV001391489

NM_014946.4(SPAST):c.870+3A>G

SNV
Germline

Chr2:32114828

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1242491414

rs_1553314979

2 SubmittersRCV001391490 RCV005243499

NM_014946.4(SPAST):c.955A>T (p.Asn319Tyr)

SNV
Unknown

Chr2:32115786

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499257

rs_1678808584

1 SubmittersRCV001391492

NM_014946.4(SPAST):c.983T>C (p.Ile328Thr)

SNV
Unknown

Chr2:32115814

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499322

rs_2148734189

1 SubmittersRCV001391493

NM_014946.4(SPAST):c.1004+1G>T

SNV
Unknown

Chr2:32115836

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499378

rs_1553315236

1 SubmittersRCV001391495

NM_014946.4(SPAST):c.1004+2T>G

SNV
Germline

Chr2:32115837

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346499381

rs_1553315240

2 SubmittersRCV001391494

NM_014946.4(SPAST):c.1004+5G>T

SNV
Unknown

Chr2:32115840

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA2499215898

rs_1320663265

1 SubmittersRCV001391496

NM_014946.4(SPAST):c.1047G>C (p.Leu349Phe)

SNV
Unknown

Chr2:32116161

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499701

rs_2148734527

1 SubmittersRCV001391498

NM_014946.4(SPAST):c.1085C>T (p.Ser362Phe)

SNV
Unknown

Chr2:32116199

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499847

rs_121908509

1 SubmittersRCV001391500

NM_014946.4(SPAST):c.1098+2T>A

SNV
Unknown

Chr2:32116214

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499900

rs_2148734626

1 SubmittersRCV001391501

NM_014946.4(SPAST):c.1099-1G>A

SNV
Germline

Chr2:32126947

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501187

rs_2148744884

2 SubmittersRCV001391502

NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)

SNV
Unknown

Chr2:32126954

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA346501207

rs_1553316802

2 SubmittersRCV001391503 RCV003482357

NM_014946.4(SPAST):c.1148C>G (p.Pro383Arg)

SNV
Unknown

Chr2:32126997

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501296

rs_2148745001

1 SubmittersRCV001391504

NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)

SNV
Unknown

Chr2:32128415

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501376

rs_1189374970

1 SubmittersRCV001391506

NM_014946.4(SPAST):c.1219A>C (p.Ser407Arg)

SNV
Unknown

Chr2:32128453

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501459

rs_1553317041

1 SubmittersRCV001391507

NM_014946.4(SPAST):c.1226C>T (p.Ala409Val)

SNV
Unknown

Chr2:32128460

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501475

rs_2148746390

1 SubmittersRCV001391508

NM_014946.4(SPAST):c.1242A>G (p.Lys414=)

SNV
Unknown

Chr2:32128476

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA425446923

rs_1553317048

1 SubmittersRCV001391509

NM_014946.4(SPAST):c.1245+3G>C

SNV
Unknown

Chr2:32128482

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA2499215905

rs_2148746437

1 SubmittersRCV001391510

NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)

SNV
Germline

Chr2:32136570

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501842

rs_2148753625

2 SubmittersRCV001391511

NM_014946.4(SPAST):c.1266G>C (p.Leu422Phe)

SNV
Unknown

Chr2:32136583

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502026

rs_1679543653

1 SubmittersRCV001391513

NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr)

SNV
Germline

Chr2:32136588

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502037

rs_2148753672

2 SubmittersRCV001391514

NM_014946.4(SPAST):c.1306T>C (p.Ser436Pro)

SNV
Unknown

Chr2:32136623

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502109

rs_2148753700

1 SubmittersRCV001391515

NM_014946.4(SPAST):c.1307C>A (p.Ser436Tyr)

SNV
Unknown

Chr2:32136624

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502111

rs_1553318184

1 SubmittersRCV001391516

NM_014946.4(SPAST):c.1321+1G>A

SNV
Unknown

Chr2:32136639

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502145

rs_2148753724

1 SubmittersRCV001391518

NM_014946.4(SPAST):c.1321+2T>G

SNV
Unknown

Chr2:32136640

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502148

rs_2148753725

1 SubmittersRCV001391517

NM_014946.4(SPAST):c.1322-2A>C

SNV
Unknown

Chr2:32136875

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502151

rs_1553318208

1 SubmittersRCV001391579

NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)

SNV
Germline

Chr2:32136895

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346502198

rs_2148753950

3 SubmittersRCV001361865

NM_014946.4(SPAST):c.1384A>C (p.Lys462Gln)

SNV
Unknown

Chr2:32136939

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502298

rs_1553318246

1 SubmittersRCV001391580

NM_014946.4(SPAST):c.1396C>G (p.Leu466Val)

SNV
Germline

Chr2:32136951

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346502329

rs_1553318252

2 SubmittersRCV001391581

NM_014946.4(SPAST):c.1405T>G (p.Phe469Val)

SNV
Unknown

Chr2:32136960

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502348

rs_2148754101

1 SubmittersRCV001391582

NM_014946.4(SPAST):c.1462A>G (p.Arg488Gly)

SNV
Unknown

Chr2:32137157

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502481

rs_1553318329

1 SubmittersRCV001391583

NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu)

SNV
Germline

Chr2:32137161

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Spastic paraparesis

Criteria Provided
Multiple Submitters
No Conflicts

CA346502493

rs_1553318331

3 SubmittersRCV001391585 RCV005241248

NM_014946.4(SPAST):c.1472A>G (p.Glu491Gly)

SNV
Unknown

Chr2:32137167

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502506

rs_2148754376

1 SubmittersRCV001391586

NM_014946.4(SPAST):c.1493+1G>T

SNV
Germline

Chr2:32137189

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502552

rs_1553318351

3 SubmittersRCV001391588 RCV002511069

NM_014946.4(SPAST):c.1493+2T>C

SNV
Unknown

Chr2:32137190

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502554

rs_1553318353

1 SubmittersRCV001391587

NM_014946.4(SPAST):c.1494-1G>A

SNV
Unknown

Chr2:32141903

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502812

rs_1315245986

1 SubmittersRCV001391589

NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser)

SNV
Germline

Chr2:32143349

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346503641

rs_2148759388

2 SubmittersRCV001391343

NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr2:32143390

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346503809

rs_2148759447

2 SubmittersRCV001391347

NM_014946.4(SPAST):c.1616+5G>A

SNV
Germline

Chr2:32143420

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA2499215919

rs_2148759485

3 SubmittersRCV001391348

NM_014946.4(SPAST):c.1617-2A>T

SNV
Unknown

Chr2:32144935

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504146

rs_1553319524

1 SubmittersRCV001391350

NM_014946.4(SPAST):c.1667C>T (p.Ala556Val)

SNV
Unknown

Chr2:32144987

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504262

rs_2148760886

1 SubmittersRCV001391351

NM_014946.4(SPAST):c.1688-1G>C

SNV
Unknown

Chr2:32147217

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504302

rs_1573174147

1 SubmittersRCV001391352

NM_014946.4(SPAST):c.1715T>C (p.Met572Thr)

SNV
Germline

Chr2:32147245

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600993

rs_138146982

2 SubmittersRCV001391353

NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)

SNV
Germline

Chr2:32154386

Pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1601018

rs_778023258

7 SubmittersRCV001391354 RCV001847219 RCV002473251

NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro)

SNV
Germline

Chr2:32154387

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346505541

rs_749484350

2 SubmittersRCV001391355

NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn)

SNV
Germline

Chr2:32154429

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346505637

rs_2148769328

2 SubmittersRCV001391576 RCV002541652

NM_001371279.1(REEP1):c.418-1G>A

SNV
Unknown

Chr2:86232803

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347547772

rs_2104054912

1 SubmittersRCV001391642

NM_001371279.1(REEP1):c.260T>G (p.Leu87Arg)

SNV
Unknown

Chr2:86254737

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347717200

rs_2104244362

1 SubmittersRCV001391640

NM_001371279.1(REEP1):c.182+5G>C

SNV
Unknown

Chr2:86263960

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA2499216291

rs_766166355

1 SubmittersRCV001391638

NM_001371279.1(REEP1):c.166G>C (p.Asp56His)

SNV
Unknown

Chr2:86263981

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347719942

rs_1060503493

1 SubmittersRCV001391637

NM_001371279.1(REEP1):c.106-4A>G

SNV
Unknown

Chr2:86264045

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1267147051

rs_1677011138

2 SubmittersRCV001391636 RCV002473253

NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)

SNV
Germline

Chr2:86282219

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Multiple Submitters
No Conflicts

CA347722702

rs_1060503496

2 SubmittersRCV001391633

NM_183075.3(CYP2U1):c.1A>C (p.Met1Leu)

SNV
Unknown

Chr4:107931644

Pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

CA3036953

rs_773841071

1 SubmittersRCV001391444

NM_183075.3(CYP2U1):c.719G>A (p.Arg240His)

SNV
Germline

Chr4:107945198

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 56
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3037049

rs_145638445

3 SubmittersRCV001391445 RCV001880212 RCV004035438

NM_183075.3(CYP2U1):c.1469G>A (p.Cys490Tyr)

SNV
Unknown

Chr4:107950257

Pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

CA357839436

rs_1468917268

1 SubmittersRCV001391447

NM_014855.3(AP5Z1):c.1596-3C>G

SNV
Unknown

Chr7:4788837

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA2499218905

rs_2115122331

1 SubmittersRCV001391432

NM_014855.3(AP5Z1):c.1939-1G>A

SNV
Unknown

Chr7:4790672

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA366664441

rs_2115128968

1 SubmittersRCV001391434

NM_014846.4(WASHC5):c.2645T>A (p.Phe882Tyr)

SNV
Unknown

Chr8:125044558

Pathogenic

Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

CA372188223

rs_1815998956

1 SubmittersRCV001391388

NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro)

SNV
Unknown

Chr8:125061129

Pathogenic

Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

CA372192502

rs_2130107479

1 SubmittersRCV001391384

NM_007175.8(ERLIN2):c.374A>G (p.Asn125Ser)

SNV
Unknown

Chr8:37744646

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA370652624

rs_2129680761

1 SubmittersRCV001391376

NM_007175.8(ERLIN2):c.430A>G (p.Ile144Val)

SNV
Unknown

Chr8:37749564

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA370658032

rs_2129710278

1 SubmittersRCV001391377

NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu)

SNV
Unknown

Chr8:37753509

Pathogenic

Hereditary spastic paraplegia 18

Criteria Provided
Single Submitter

CA370662238

rs_2129726150

1 SubmittersRCV001391378

NM_007175.8(ERLIN2):c.819G>A (p.Lys273=)

SNV
Unknown

Chr8:37753529

Pathogenic

Hereditary spastic paraplegia 18

Criteria Provided
Single Submitter

CA4711005

rs_779335579

1 SubmittersRCV001391379

NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)

SNV
Unknown

Chr8:37753972

Pathogenic

Hereditary spastic paraplegia 18

Criteria Provided
Single Submitter

CA370662581

rs_2129728774

1 SubmittersRCV001391380

NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)

SNV
Germline

Chr8:38242261

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 54

Criteria Provided
Conflicting Classifications

CA370718056

rs_1380005347

3 SubmittersRCV001391366

NM_015214.3(DDHD2):c.1529G>A (p.Gly510Glu)

SNV
Unknown

Chr8:38252199

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

CA370692251

rs_2130848885

1 SubmittersRCV001391367

NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu)

SNV
Germline

Chr8:64604722

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4764036

rs_767611387

2 SubmittersRCV001391408 RCV002541651

NM_004820.5(CYP7B1):c.1168G>T (p.Gly390Ter)

SNV
Unknown

Chr8:64604747

Pathogenic

Hereditary spastic paraplegia 5A

Criteria Provided
Single Submitter

CA371334124

rs_765443036

1 SubmittersRCV001391407

NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)

SNV
Germline

Chr8:64604854

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4764059

rs_753708048

4 SubmittersRCV001341084 RCV001391406 RCV005437052

NM_004820.5(CYP7B1):c.260-1G>A

SNV
Germline

Chr8:64616282

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 5A
Spastic paraplegia
Lung cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA371336590

rs_1385678413

3 SubmittersRCV001391403 RCV003750858 RCV005910803

NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala)

SNV
Germline

Chr8:64624492

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
not specified

Criteria Provided
Conflicting Classifications

CA371338782

rs_1805578327

2 SubmittersRCV001391402 RCV005408792

NM_004820.5(CYP7B1):c.151G>C (p.Gly51Arg)

SNV
Germline

Chr8:64624511

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 5A
not specified

Criteria Provided
Conflicting Classifications

CA178391957

rs_961524982

2 SubmittersRCV001391401 RCV004800954

NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser)

SNV
Unknown

Chr10:95637173

Pathogenic

Hereditary spastic paraplegia 9A

Criteria Provided
Single Submitter

CA377706525

rs_2139621272

1 SubmittersRCV001391612

NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg)

SNV
Unknown

Chr12:57564211

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385494980

rs_2140159183

1 SubmittersRCV001391450

NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)

SNV
Germline

Chr12:57564479

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10

Criteria Provided
Conflicting Classifications

CA385495241

rs_2140159368

2 SubmittersRCV001391451

NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly)

SNV
Germline

Chr12:57567508

Pathogenic

Hereditary spastic paraplegia 10
Myoclonus, intractable, neonatal

Criteria Provided
Single Submitter

CA385499022

rs_1057524193

2 SubmittersRCV001391454 RCV004769988

NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn)

SNV
Unknown

Chr12:57567509

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385499027

rs_1057519195

1 SubmittersRCV001391455

NM_004984.4(KIF5A):c.728G>A (p.Gly243Glu)

SNV
Unknown

Chr12:57568976

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385499845

rs_2140162541

1 SubmittersRCV001391457

NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)

SNV
Germline

Chr12:57569011

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA385500019

rs_2140162576

2 SubmittersRCV001391458 RCV001880213

NM_004984.4(KIF5A):c.765C>G (p.Ile255Met)

SNV
Unknown

Chr12:57569013

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385500031

rs_2140162581

1 SubmittersRCV001391459

NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile)

SNV
Unknown

Chr12:57569290

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385500567

rs_2140162883

1 SubmittersRCV001391461

NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)

SNV
Germline

Chr12:57569325

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA385500713

rs_1416085161

3 SubmittersRCV001391462 RCV002537736 RCV005256761

NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys)

SNV
Germline

Chr12:57626833

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 26
Spastic paraparesis

Criteria Provided
Multiple Submitters
No Conflicts

CA385573224

rs_1884842111

3 SubmittersRCV001391544 RCV005241247

NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro)

SNV
Unknown

Chr12:57626931

Pathogenic

Hereditary spastic paraplegia 26

Criteria Provided
Single Submitter

CA6655439

rs_759528128

1 SubmittersRCV001391543

NM_015915.5(ATL1):c.118G>T (p.Val40Phe)

SNV
Unknown

Chr14:50587914

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389665438

rs_2140201780

1 SubmittersRCV001391389

NM_015915.5(ATL1):c.470T>C (p.Leu157Ser)

SNV
Unknown

Chr14:50591587

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389667425

rs_119476051

1 SubmittersRCV001391390

NM_015915.5(ATL1):c.575T>A (p.Leu192His)

SNV
Unknown

Chr14:50595577

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389668809

rs_2140209847

1 SubmittersRCV001391391

NM_015915.5(ATL1):c.749T>C (p.Leu250Pro)

SNV
Unknown

Chr14:50614398

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389671499

rs_2140226894

1 SubmittersRCV001391392

NM_015915.5(ATL1):c.751C>A (p.Gln251Lys)

SNV
Germline

Chr14:50614400

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389671507

rs_1595615134

3 SubmittersRCV001391393

NM_015915.5(ATL1):c.1065C>G (p.Asn355Lys)

SNV
Unknown

Chr14:50623194

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389674138

rs_1555365597

1 SubmittersRCV001391394

NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)

SNV
Germline

Chr14:50628217

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389675997

rs_2140239163

3 SubmittersRCV001391448

NM_015915.5(ATL1):c.1543T>C (p.Trp515Arg)

SNV
Unknown

Chr14:50628454

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389676513

rs_2140239458

1 SubmittersRCV001391449

NM_001160148.2(DDHD1):c.510G>A (p.Trp170Ter)

SNV
Unknown

Chr14:53152589

Pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

CA389780584

rs_1891509468

1 SubmittersRCV001391443

NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)

SNV
Germline

Chr14:67785200

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA262851700

rs_988442865

4 SubmittersRCV001391437 RCV001847221 RCV001880210

NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)

SNV
Germline

Chr14:67798291

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390175468

rs_2040001177

3 SubmittersRCV001384569 RCV001391436

NM_015346.4(ZFYVE26):c.3G>T (p.Met1Ile)

SNV
Unknown

Chr14:67815961

Pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390165260

rs_1392868365

1 SubmittersRCV001391435

NM_025137.4(SPG11):c.6343+5G>T

SNV
Unknown

Chr15:44572678

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Gastric cancer

Criteria Provided
Conflicting Classifications

CA7534175

rs_756302161

3 SubmittersRCV001391629 RCV003482358 RCV005910805

NM_025137.4(SPG11):c.5032G>T (p.Glu1678Ter)

SNV
Unknown

Chr15:44585725

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392223458

rs_1277084672

1 SubmittersRCV001391561

NM_025137.4(SPG11):c.4002-2A>G

SNV
Unknown

Chr15:44596945

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392229364

rs_2140973951

1 SubmittersRCV001391558

NM_025137.4(SPG11):c.3686+4A>G

SNV
Unknown

Chr15:44600463

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392231002

rs_1595865855

1 SubmittersRCV001391557

NM_025137.4(SPG11):c.2740C>T (p.Gln914Ter)

SNV
Unknown

Chr15:44620284

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA7535152

rs_761896412

1 SubmittersRCV001391553

NM_024306.5(FA2H):c.190G>T (p.Gly64Trp)

SNV
Unknown

Chr16:74774566

Pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA396768226

rs_1410690526

1 SubmittersRCV001391535

NM_003119.4(SPG7):c.712A>T (p.Lys238Ter)

SNV
Unknown

Chr16:89526422

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397418333

rs_2152400493

1 SubmittersRCV001391424

NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)

SNV
Germline

Chr16:89532481

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397420659

rs_2058357964

2 SubmittersRCV001391429

NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter)

SNV
Unknown

Chr16:89546679

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397426347

rs_1179556029

1 SubmittersRCV001391519

NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)

SNV
Germline

Chr16:89546727

Pathogenic

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA397426551

rs_1482442290

5 SubmittersRCV001391520 RCV001847223

NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro)

SNV
Unknown

Chr16:89546743

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397426590

rs_2058569546

1 SubmittersRCV001391522

NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter)

SNV
Unknown

Chr16:89548053

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397427780

rs_2152410293

1 SubmittersRCV001391525

NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)

SNV
Germline

Chr16:89550560

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA397431065

rs_1329063851

8 SubmittersRCV001391527 RCV001819969 RCV004690042

NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)

SNV
Germline

Chr16:89550593

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397431249

rs_778387199

4 SubmittersRCV001391528

NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter)

SNV
Germline

Chr16:89550607

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397431359

rs_1463225651

3 SubmittersRCV001391529

NM_001166114.2(PNPLA6):c.1362+1G>C

SNV
Unknown

Chr19:7542671

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403112198

rs_2146060616

1 SubmittersRCV001391538

NM_001166114.2(PNPLA6):c.1456C>A (p.Pro486Thr)

SNV
Unknown

Chr19:7542854

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403113619

rs_1055816694

1 SubmittersRCV001391539

NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)

SNV
Germline

Chr14:102431914

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7357667

rs_759378757

3 SubmittersRCV001277543 RCV001847225

NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser)

SNV
Germline

Chr14:102434460

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA267057411

rs_904496072

3 SubmittersRCV001277548 RCV001847226 RCV002541663

NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=)

SNV
Germline

Chr14:102497673

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA7358446

rs_376614211

4 SubmittersRCV001279681 RCV001847227 RCV003155385

NM_020944.3(GBA2):c.1582+2T>G

SNV
Germline

Chr9:35739626

Likely pathogenic

Hereditary spastic paraplegia 46
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA192759805

rs_941656065

2 SubmittersRCV001280545 RCV002541750

NM_020944.3(GBA2):c.451+1G>A

SNV
Germline

Chr9:35744614

Likely pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

CA5050725

rs_769002624

1 SubmittersRCV001280667

NM_001244008.2(KIF1A):c.882+6C>G

SNV
Germline

Chr2:240782584

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA1139657807

rs_1290737564

2 SubmittersRCV001813008 RCV005213514

NM_015046.7(SETX):c.1140T>G (p.Pro380=)

SNV
Germline

Chr9:132330458

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297815

rs_140553290

5 SubmittersRCV001813050 RCV001847229 RCV002542980 RCV004545176

NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=)

SNV
Germline

Chr2:240758461

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA2208087

rs_371444142

2 SubmittersRCV001288232 RCV001412652

NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter)

SNV
Germline

Chr14:102498124

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391059410

rs_1891340555

2 SubmittersRCV001290270

NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)

SNV
Germline

Chr2:32154383

Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346505535

rs_1259072587

3 SubmittersRCV001290955 RCV003883601

NM_001244008.2(KIF1A):c.4999G>A (p.Asp1667Asn)

SNV
Germline

Chr2:240719796

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA68133915

rs_754893576

3 SubmittersRCV001308084 RCV001329209 RCV002543223

NM_001244008.2(KIF1A):c.4391G>T (p.Gly1464Val)

SNV
Germline

Chr2:240723486

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA351305309

rs_1477553245

2 SubmittersRCV001299749 RCV002327644

NM_001244008.2(KIF1A):c.3776G>A (p.Arg1259His)

SNV
Germline

Chr2:240740338

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207648

rs_761077237

3 SubmittersRCV001302334 RCV001760356

NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr)

SNV
Germline

Chr2:240760768

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
not specified
Inborn genetic diseases
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA2208124

rs_369842871

4 SubmittersRCV001307096 RCV001819999 RCV002447313 RCV002476412

NM_001244008.2(KIF1A):c.934A>C (p.Thr312Pro)

SNV
Germline

Chr2:240775875

Pathogenic

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351297692

rs_2052660081

1 SubmittersRCV001301690

NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)

SNV
Germline

Chr2:240797721

Likely pathogenic

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351315969

rs_1575654528

1 SubmittersRCV001298157

NM_014946.4(SPAST):c.1324G>A (p.Glu442Lys)

SNV
Germline

Chr2:32136879

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502163

rs_1553318214

1 SubmittersRCV001308595

NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe)

SNV
Germline

Chr12:57630497

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 26
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6655744

rs_759353736

3 SubmittersRCV001297102 RCV003223343 RCV006327234

NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)

SNV
Germline

Chr15:44572748

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534188

rs_376817637

4 SubmittersRCV001302664 RCV002357100 RCV002261332 RCV002468217 RCV002468218

NM_001199753.2(CPT1C):c.1894G>A (p.Val632Met)

SNV
Germline

Chr19:49711836

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9582360

rs_141139944

5 SubmittersRCV001298082 RCV004036089 RCV006279549

NM_024306.5(FA2H):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr16:74727371

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA396770244

rs_1210045384

3 SubmittersRCV001310337 RCV005014392

NM_003119.4(SPG7):c.1611C>G (p.His537Gln)

SNV
Germline

Chr16:89548061

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7
not specified

Criteria Provided
Conflicting Classifications

CA8244282

rs_139952725

3 SubmittersRCV001310349 RCV002070133 RCV005236788

NM_001244008.2(KIF1A):c.3827G>A (p.Arg1276Gln)

SNV
Germline

Chr2:240740132

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351314571

rs_2047780556

2 SubmittersRCV001315955 RCV005623092

NM_001244008.2(KIF1A):c.1341+8C>T

SNV
Germline

Chr2:240770963

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
not specified

Criteria Provided
Conflicting Classifications

CA68175649

rs_749268264

2 SubmittersRCV001321564 RCV001820013

NM_001244008.2(KIF1A):c.883-5C>G

SNV
Germline

Chr2:240775931

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208598

rs_201408083

2 SubmittersRCV001327255 RCV003235549

NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)

SNV
Germline

Chr2:240783789

Likely pathogenic

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351303231

rs_2054374864

1 SubmittersRCV001322987

NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter)

SNV
Germline

Chr8:125061179

Pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Single Submitter

CA185309113

rs_1030054011

1 SubmittersRCV001313795

NM_015915.5(ATL1):c.716G>A (p.Arg239His)

SNV
Germline

Chr14:50613344

Likely pathogenic

Hereditary spastic paraplegia 3A
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA389671154

rs_1241621325

2 SubmittersRCV001316506 RCV001731196

NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys)

SNV
Germline

Chr19:7560753

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Conflicting Classifications

CA403137954

rs_2024064953

4 SubmittersRCV001313282 RCV001543520

NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln)

SNV
Germline

Chr2:240773155

Conflicting classifications of pathogenicity

Spastic ataxia
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA2208535

rs_759791775

2 SubmittersRCV001647221 RCV001859247

NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu)

SNV
Germline

Chr16:89553797

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8244496

rs_776380988

2 SubmittersRCV001647142

NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)

SNV
Germline

Chr16:89553829

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397433768

rs_2058661391

5 SubmittersRCV001647144

NM_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg)

SNV
Germline

Chr19:7555698

Conflicting classifications of pathogenicity

Spastic ataxia
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA403131846

rs_768107851

2 SubmittersRCV001647153 RCV001859244

NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu)

SNV
Germline

Chr19:7557222

Conflicting classifications of pathogenicity

Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140430

rs_748506175

2 SubmittersRCV001647195 RCV001871793

NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter)

SNV
Germline

Chr19:7561515

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Condition: not provided
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
Laurence-Moon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA9140695

rs_370033046

6 SubmittersRCV001384731 RCV001847242 RCV001647196 RCV002508308 RCV005411718

NM_001271803.2(REEP2):c.331C>T (p.Arg111Ter)

SNV
Unknown

Chr5:138444781

Likely pathogenic

Hereditary spastic paraplegia 72

Criteria Provided
Single Submitter

CA361103611

rs_1763893777

1 SubmittersRCV001330517

NM_001271803.2(REEP2):c.523C>T (p.Arg175Ter)

SNV
Unknown

Chr5:138445333

Likely pathogenic

Hereditary spastic paraplegia 72

Criteria Provided
Single Submitter

CA3429844

rs_752698231

1 SubmittersRCV001330518

NM_014855.3(AP5Z1):c.179+1G>T

SNV
Unknown

Chr7:4781313

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA366673976

rs_1186699852

1 SubmittersRCV001331909

NM_014846.4(WASHC5):c.3424-1G>T

SNV
Germline

Chr8:125024674

Likely pathogenic

Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

CA372178103

rs_1815322920

1 SubmittersRCV001331908

NM_001351169.2(NT5C2):c.539+1G>T

SNV
Unknown

Chr10:103101044

Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA377975953

rs_1457224574

1 SubmittersRCV001330410

NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)

SNV
Germline

Chr12:57569629

Conflicting classifications of pathogenicity

Myoclonus, intractable, neonatal
Spastic paraplegia
Hereditary spastic paraplegia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6652740

rs_749301835

5 SubmittersRCV001331326 RCV001871817 RCV001847243 RCV003987836 RCV005652623

NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter)

SNV
Germline

Chr12:57581007

Conflicting classifications of pathogenicity

Myoclonus, intractable, neonatal
Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA385515078

rs_1882578572

3 SubmittersRCV001331328 RCV001542685 RCV002546460

NM_015346.4(ZFYVE26):c.886+1G>C

SNV
Germline

Chr14:67807397

Pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390160503

rs_752618765

1 SubmittersRCV001328901

NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)

SNV
Germline

Chr16:74774554

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35
Condition: not provided
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8170618

rs_750198250

5 SubmittersRCV001329950 RCV001724297 RCV001373220 RCV004035686

NM_003119.4(SPG7):c.1186G>T (p.Glu396Ter)

SNV
Germline

Chr16:89532498

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397420734

rs_2058358241

3 SubmittersRCV001331023 RCV001549705

NM_000533.5(PLP1):c.670C>A (p.Leu224Ile)

SNV
Germline

ChrX:103788484

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414104364

rs_2074517785

1 SubmittersRCV001331309

NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)

SNV
Germline

Chr1:113896009

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Multiple Submitters
No Conflicts

CA1015757

rs_767220480

3 SubmittersRCV001334571

NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter)

SNV
Germline

Chr1:205163896

Conflicting classifications of pathogenicity

Congenital anomalies of kidney and urinary tract 1
Hereditary spastic paraplegia 23
Complex hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA344397914

rs_77626160

2 SubmittersRCV001333861 RCV003147620 RCV005361537

NM_001244008.2(KIF1A):c.1267G>A (p.Ala423Thr)

SNV
Germline

Chr2:240771045

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA351330554

rs_1345536541

2 SubmittersRCV001334231 RCV001871857

NM_014855.3(AP5Z1):c.158C>A (p.Ser53Ter)

SNV
Germline

Chr7:4781291

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA4137063

rs_774738874

1 SubmittersRCV001335677

NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg)

SNV
Germline

Chr8:37744628

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 18
Spastic paraplegia, autosomal dominant

Criteria Provided
Conflicting Classifications

CA370652485

rs_1802974214

2 SubmittersRCV001334646 RCV001712891

NM_015346.4(ZFYVE26):c.1564C>T (p.Gln522Ter)

SNV
Germline

Chr14:67802154

Pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390176359

rs_2040089822

1 SubmittersRCV001333858

NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)

SNV
Germline

Chr15:44570534

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA270062772

rs_146240471

2 SubmittersRCV001336696 RCV003495243

NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)

SNV
Germline

Chr15:51002561

Pathogenic

ALG12-congenital disorder of glycosylation
Hereditary spastic paraplegia 51
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA392422670

rs_1313275799

4 SubmittersRCV001333647 RCV001779155 RCV001849507

NM_001244008.2(KIF1A):c.4194G>T (p.Lys1398Asn)

SNV
Germline

Chr2:240725333

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207469

rs_745612845

2 SubmittersRCV001347808 RCV002462950

NM_001244008.2(KIF1A):c.3465C>T (p.Asn1155=)

SNV
Germline

Chr2:240745427

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Conflicting Classifications

CA2207808

rs_371782922

4 SubmittersRCV001344500 RCV002341710 RCV004809568 RCV005394961

NM_014946.4(SPAST):c.1349G>A (p.Arg450Lys)

SNV
Germline

Chr2:32136904

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502220

rs_1679553997

2 SubmittersRCV001341398 RCV001508981

NM_006070.6(TFG):c.738G>C (p.Gln246His)

SNV
Germline

Chr3:100744849

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2517183

rs_370273888

3 SubmittersRCV001343138 RCV001507631 RCV002384468

NM_001166114.2(PNPLA6):c.913C>T (p.Arg305Trp)

SNV
Germline

Chr19:7541040

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA304864234

rs_866964055

1 SubmittersRCV001352232

NM_001351169.2(NT5C2):c.1449+2T>C

SNV
Germline

Chr10:103090609

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 45
Neurodevelopmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5670759

rs_753295868

3 SubmittersRCV001352898 RCV002276708

NM_003119.4(SPG7):c.454A>G (p.Met152Val)

SNV
Germline

Chr16:89524083

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8243648

rs_146186857

5 SubmittersRCV001353162 RCV002070220

NM_001244008.2(KIF1A):c.3601C>T (p.Arg1201Cys)

SNV
Germline

Chr2:240742968

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207737

rs_752464745

3 SubmittersRCV001364503 RCV001773725 RCV002456561

NM_001244008.2(KIF1A):c.467A>T (p.Asp156Val)

SNV
Germline

Chr2:240786476

Pathogenic

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351306817

rs_2126071766

1 SubmittersRCV001367455

NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter)

SNV
Germline

Chr8:125056685

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4873663

rs_762401591

3 SubmittersRCV001373132 RCV005866980 RCV004590359

NM_015915.5(ATL1):c.471G>T (p.Leu157Phe)

SNV
Germline

Chr14:50591588

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389667433

rs_2140205438

1 SubmittersRCV001360017

NM_003119.4(SPG7):c.547G>A (p.Val183Ile)

SNV
Germline

Chr16:89524176

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8243668

rs_373636036

2 SubmittersRCV001366647 RCV004692646

NM_001010867.4(IBA57):c.679+3A>G

SNV
Germline

Chr1:228175032

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Condition: not provided
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Conflicting Classifications

CA1431209

rs_754620334

6 SubmittersRCV001726527 RCV001865866 RCV003130512 RCV003339628

NM_014946.4(SPAST):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr2:32143405

Pathogenic

Hereditary spastic paraplegia

No Assertion Criteria Provided

CA346503841

rs_2148759473

1 SubmittersRCV001376106

NM_015915.5(ATL1):c.740A>G (p.His247Arg)

SNV
Germline

Chr14:50614389

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389671454

rs_2140226883

3 SubmittersRCV001376177 RCV006327272

NM_001010867.4(IBA57):c.341+1G>T

SNV
Germline

Chr1:228166158

Likely pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Single Submitter

CA345106938

rs_1250537283

1 SubmittersRCV001379031

NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)

SNV
Germline

Chr2:32137187

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346502545

rs_1553318350

3 SubmittersRCV001377877 RCV002265027

NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)

SNV
Germline

Chr4:107931986

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 56

Criteria Provided
Multiple Submitters
No Conflicts

CA3036972

rs_766889023

5 SubmittersRCV001379753 RCV001847253 RCV002276241 RCV004576988

NM_015915.5(ATL1):c.1048G>T (p.Ala350Ser)

SNV
Germline

Chr14:50623177

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389674100

rs_1595621292

1 SubmittersRCV001379963

NM_015915.5(ATL1):c.1216A>C (p.Lys406Gln)

SNV
Germline

Chr14:50628127

Likely pathogenic

Hereditary spastic paraplegia 3A
Accessory ectopic thyroid tissue

Criteria Provided
Single Submitter

CA389675771

rs_1595625104

2 SubmittersRCV001379692 RCV001849513

NM_015346.4(ZFYVE26):c.4798-1G>A

SNV
Germline

Chr14:67777736

Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390168978

rs_1555396303

2 SubmittersRCV001377533 RCV003485712

NM_025137.4(SPG11):c.443-1G>A

SNV
Germline

Chr15:44659304

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA270109715

rs_1040633382

2 SubmittersRCV001377267 RCV004796615

NM_003119.4(SPG7):c.286+1G>T

SNV
Germline

Chr16:89510593

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397416952

rs_1452259575

2 SubmittersRCV001378304

NM_000533.5(PLP1):c.647C>T (p.Pro216Leu)

SNV
Germline

ChrX:103788461

Likely pathogenic

Hereditary spastic paraplegia 2
Condition: not provided
Pelizaeus-Merzbacher disease

Criteria Provided
Multiple Submitters
No Conflicts

CA414104290

rs_2147766958

3 SubmittersRCV001379651 RCV002509679 RCV004595597

NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter)

SNV
Germline

Chr2:32128472

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346501502

rs_1553317045

2 SubmittersRCV001383109 RCV003482368

NM_014946.4(SPAST):c.1250G>T (p.Gly417Val)

SNV
Germline

Chr2:32136567

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346501836

rs_1553318161

2 SubmittersRCV001390175 RCV002259393

NM_014946.4(SPAST):c.1728+1G>T

SNV
Germline

Chr2:32147259

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504400

rs_587777754

1 SubmittersRCV001382866

NM_014946.4(SPAST):c.1728+2T>G

SNV
Germline

Chr2:32147260

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346504403

rs_1553319874

2 SubmittersRCV001382867

NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)

SNV
Germline

Chr2:32154494

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346505784

rs_1553321270

3 SubmittersRCV001385100 RCV004998866

NM_001371279.1(REEP1):c.417+1G>C

SNV
Germline

Chr2:86251956

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347715718

rs_2104223296

1 SubmittersRCV001381758

NM_001371279.1(REEP1):c.417+1G>A

SNV
Germline

Chr2:86251956

Pathogenic

Hereditary spastic paraplegia 31
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA347715721

rs_2104223296

2 SubmittersRCV001386861 RCV001847255

NM_001371279.1(REEP1):c.345C>G (p.Tyr115Ter)

SNV
Germline

Chr2:86252029

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347716239

rs_138656911

1 SubmittersRCV001390200

NM_001371279.1(REEP1):c.224G>A (p.Trp75Ter)

SNV
Germline

Chr2:86254773

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347717453

rs_2104244665

1 SubmittersRCV001386988

NM_006070.6(TFG):c.317G>A (p.Arg106His)

SNV
Germline

Chr3:100728760

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 57
TFG-related disorder
Childhood onset hereditary spastic paraplegia
Hereditary motor and sensory neuropathy, Okinawa type

Criteria Provided
Conflicting Classifications

CA2517047

rs_376971794

10 SubmittersRCV001389156 RCV001780372 RCV002322372 RCV001542526 RCV003479321 RCV006650780 RCV005860229

NM_001478.5(B4GALNT1):c.1514G>A (p.Arg505His)

SNV
Germline

Chr12:57626832

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 26

Criteria Provided
Multiple Submitters
No Conflicts

CA6655420

rs_144887664

2 SubmittersRCV001387496 RCV006705534

NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter)

SNV
Germline

Chr14:102376755

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391040248

rs_2139656549

1 SubmittersRCV001383628

NM_014844.5(TECPR2):c.2093G>A (p.Trp698Ter)

SNV
Germline

Chr14:102434910

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

CA391062104

rs_2139731631

2 SubmittersRCV001385005

NM_014844.5(TECPR2):c.2599G>T (p.Glu867Ter)

SNV
Germline

Chr14:102440456

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391066530

rs_200843101

1 SubmittersRCV001387583

NM_014844.5(TECPR2):c.2915G>A (p.Trp972Ter)

SNV
Germline

Chr14:102443809

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391067469

rs_2139743890

1 SubmittersRCV001386525

NM_014844.5(TECPR2):c.3326G>A (p.Trp1109Ter)

SNV
Germline

Chr14:102450569

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391068427

rs_2139752366

1 SubmittersRCV001384672

NM_014844.5(TECPR2):c.3946C>T (p.Gln1316Ter)

SNV
Germline

Chr14:102497584

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391058178

rs_2139803640

1 SubmittersRCV001385064

NM_015915.5(ATL1):c.565C>G (p.His189Asp)

SNV
Germline

Chr14:50593888

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389668239

rs_2140208127

1 SubmittersRCV001385343

NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter)

SNV
Germline

Chr14:67762687

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA7239307

rs_756042888

2 SubmittersRCV001383486 RCV002476723

NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter)

SNV
Germline

Chr15:44564560

Pathogenic

Hereditary spastic paraplegia 11
SPG11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7533898

rs_369467143

2 SubmittersRCV001383613 RCV003405631

NM_025137.4(SPG11):c.4939C>T (p.Gln1647Ter)

SNV
Germline

Chr15:44585818

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA270081941

rs_959026057

1 SubmittersRCV001384570

NM_025137.4(SPG11):c.4621C>T (p.Gln1541Ter)

SNV
Germline

Chr15:44595273

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392225965

rs_2140969609

1 SubmittersRCV001385556

NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)

SNV
Germline

Chr15:44596085

Pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

CA392227288

rs_2140971559

2 SubmittersRCV001384631 RCV003483829

NM_003119.4(SPG7):c.2T>A (p.Met1Lys)

SNV
Germline

Chr16:89508419

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397415810

rs_1332265538

3 SubmittersRCV001382565

NM_005619.5(RTN2):c.148G>T (p.Glu50Ter)

SNV
Germline

Chr19:45494937

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA406362879

rs_1162797495

3 SubmittersRCV001382027 RCV001780309 RCV004793477

NM_001166114.2(PNPLA6):c.2185-1G>T

SNV
Germline

Chr19:7551361

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403124954

rs_606231249

1 SubmittersRCV001389254

NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln)

SNV
Germline

Chr19:7561510

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia
Condition: not provided
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
Laurence-Moon syndrome

Criteria Provided
Conflicting Classifications

CA9140694

rs_368661376

4 SubmittersRCV001386441 RCV001847254 RCV003482369 RCV006689129

NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=)

SNV
Germline

Chr2:201709967

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2057641

rs_764925739

2 SubmittersRCV001409881 RCV001847264

NM_001371279.1(REEP1):c.537C>T (p.Ser179=)

SNV
Germline

Chr2:86232683

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Hereditary spastic paraplegia 31
Neuronopathy, distal hereditary motor, type 5B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1748691

rs_201564869

3 SubmittersRCV001412970 RCV001727851 RCV005271248

NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His)

SNV
Germline

Chr7:4791336

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided
Hereditary spastic paraplegia
AP5Z1-related disorder

Criteria Provided
Conflicting Classifications

CA4138456

rs_201677317

4 SubmittersRCV001396113 RCV001581117 RCV001847258 RCV003938666

NM_015046.7(SETX):c.719-4A>G

SNV
Germline

Chr9:132334731

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297952

rs_775443601

4 SubmittersRCV001411304 RCV002377642 RCV001847266 RCV003883630

NM_020944.3(GBA2):c.964C>T (p.Leu322=)

SNV
Germline

Chr9:35740887

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050572

rs_150861266

2 SubmittersRCV001405871 RCV001847263

NM_014363.6(SACS):c.7275A>G (p.Arg2425=)

SNV
Germline

Chr13:23336601

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910938

rs_761313165

2 SubmittersRCV001411225 RCV001847265

NM_014363.6(SACS):c.6978C>G (p.Ala2326=)

SNV
Germline

Chr13:23336898

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA483161015

rs_2137604768

2 SubmittersRCV001397675 RCV001847259

NM_014363.6(SACS):c.4749A>G (p.Pro1583=)

SNV
Germline

Chr13:23339127

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911348

rs_760512075

2 SubmittersRCV001404982 RCV001847262

NM_014363.6(SACS):c.2814T>C (p.Ile938=)

SNV
Germline

Chr13:23341062

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA246662882

rs_909826115

2 SubmittersRCV001414803 RCV001847267

NM_015346.4(ZFYVE26):c.2553+8G>A

SNV
Germline

Chr14:67793600

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA614779390

rs_1355900379

2 SubmittersRCV001398264 RCV001847260

NM_015346.4(ZFYVE26):c.540C>T (p.Asp180=)

SNV
Germline

Chr14:67807744

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7240773

rs_150289689

2 SubmittersRCV001398753 RCV001847261

NM_025137.4(SPG11):c.891G>A (p.Leu297=)

SNV
Germline

Chr15:44652245

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535681

rs_765967405

2 SubmittersRCV001418779 RCV001847268

NM_001244008.2(KIF1A):c.3585-4A>G

SNV
Germline

Chr2:240742988

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207744

rs_755269372

3 SubmittersRCV001424244 RCV001847270 RCV002456694

NM_001244008.2(KIF1A):c.1725C>T (p.Tyr575=)

SNV
Germline

Chr2:240765753

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2208293

rs_772063378

3 SubmittersRCV001439442 RCV001847274 RCV004533734

NM_001244008.2(KIF1A):c.843C>A (p.Val281=)

SNV
Germline

Chr2:240783065

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208639

rs_367790793

3 SubmittersRCV001751766 RCV001441234 RCV002449187

NM_152415.3(VPS37A):c.642+10G>A

SNV
Germline

Chr8:17274968

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 53
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4643377

rs_531893337

2 SubmittersRCV001433130 RCV001847273

NM_006459.4(ERLIN1):c.789A>G (p.Glu263=)

SNV
Germline

Chr10:100154896

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 62
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5646000

rs_759786446

2 SubmittersRCV001425182 RCV001847271

NM_025137.4(SPG11):c.4674G>C (p.Leu1558=)

SNV
Germline

Chr15:44592400

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534616

rs_376125033

3 SubmittersRCV001443013 RCV001847275 RCV003399231

NM_025137.4(SPG11):c.2067+7A>G

SNV
Germline

Chr15:44628662

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA713050378

rs_1360895808

2 SubmittersRCV001431188 RCV004809601

NM_001166114.2(PNPLA6):c.3281-4G>A

SNV
Germline

Chr19:7557164

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA9140419

rs_555997335

2 SubmittersRCV001422821 RCV001847269

NM_001244008.2(KIF1A):c.2978-6C>T

SNV
Germline

Chr2:240747327

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207941

rs_755569458

2 SubmittersRCV001476204 RCV004809632

NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)

SNV
Germline

Chr10:95637383

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

CA5620619

rs_767594147

3 SubmittersRCV001531078 RCV001847277 RCV003771437

NM_004984.4(KIF5A):c.1714C>T (p.Leu572=)

SNV
Germline

Chr12:57572724

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6652898

rs_138475832

4 SubmittersRCV006266805 RCV006450983 RCV001847278 RCV001468340

NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)

SNV
Germline

Chr13:23335082

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910719

rs_370913893

2 SubmittersRCV001477618 RCV001847279

NM_001160148.2(DDHD1):c.941A>G (p.Asn314Ser)

SNV
Germline

Chr14:53103754

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 28
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7191375

rs_148836546

3 SubmittersRCV001476760 RCV001509457 RCV005809593

NM_025137.4(SPG11):c.2727T>C (p.Tyr909=)

SNV
Germline

Chr15:44620297

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535155

rs_759432908

2 SubmittersRCV001455442 RCV001847276

NM_001244008.2(KIF1A):c.1949+7C>T

SNV
Germline

Chr2:240763159

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2208253

rs_555750413

5 SubmittersRCV001484184 RCV001573666 RCV001820183

NM_014844.5(TECPR2):c.1125C>T (p.Val375=)

SNV
Germline

Chr14:102431836

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7357647

rs_144187959

3 SubmittersRCV001486560 RCV004584914 RCV001847282

NM_014844.5(TECPR2):c.1704T>G (p.Thr568=)

SNV
Germline

Chr14:102434521

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7357772

rs_749355080

3 SubmittersRCV001482809 RCV001847280

NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=)

SNV
Germline

Chr14:102498137

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7358476

rs_777406369

3 SubmittersRCV001484567 RCV001847281

NM_025137.4(SPG11):c.6193T>C (p.Ser2065Pro)

SNV
Germline

Chr15:44573559

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
SPG11-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534244

rs_568406743

5 SubmittersRCV001489562 RCV002562725 RCV004749702 RCV006269424 RCV006443954

NM_025137.4(SPG11):c.2068-4C>T

SNV
Germline

Chr15:44626511

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535349

rs_774288495

2 SubmittersRCV001504436 RCV002421155

NM_014946.4(SPAST):c.109G>C (p.Gly37Arg)

SNV
Germline

Chr2:32063940

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600487

rs_771455657

2 SubmittersRCV001507556 RCV001882543

NM_014855.3(AP5Z1):c.854G>A (p.Arg285His)

SNV
Germline

Chr7:4784971

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4137426

rs_374794960

4 SubmittersRCV001508569 RCV002564251 RCV004952963 RCV005419161

NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)

SNV
Germline

Chr9:132327175

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297205

rs_376678876

4 SubmittersRCV001509375 RCV001847286 RCV002564285

NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)

SNV
Germline

Chr13:23332627

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910318

rs_376188585

6 SubmittersRCV001507814 RCV001785821 RCV001847284 RCV001865926

NM_020435.4(GJC2):c.285G>A (p.Leu95=)

SNV
Germline

Chr1:228158043

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
GJC2-related disorder

Criteria Provided
Conflicting Classifications

CA1430833

rs_148764840

3 SubmittersRCV001514768 RCV001847290 RCV003908827

NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)

SNV
Germline

Chr2:196843946

Conflicting classifications of pathogenicity

Intellectual disability, autosomal recessive 42
Hereditary spastic paraplegia
Inborn genetic diseases
PGAP1-related disorder

Criteria Provided
Conflicting Classifications

CA2040622

rs_138036688

4 SubmittersRCV001520621 RCV001847294 RCV003284363 RCV003931120

NM_014363.6(SACS):c.3637T>C (p.Leu1213=)

SNV
Germline

Chr13:23340239

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911494

rs_577638741

6 SubmittersRCV001517041 RCV001724329 RCV001836434 RCV001847292 RCV001727865

NM_014946.4(SPAST):c.1091G>T (p.Arg364Met)

SNV
Germline

Chr2:32116205

Likely pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA346499864

rs_1553315355

1 SubmittersRCV001528133

NM_004722.4(AP4M1):c.1137+1G>T

SNV
Germline

Chr7:100106515

Pathogenic/Likely pathogenic

Condition: not provided
AP4M1-related disorder
Hereditary spastic paraplegia 50
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA4374980

rs_770705832

10 SubmittersRCV001528225 RCV003399328 RCV001810068 RCV001849519

NM_014855.3(AP5Z1):c.1312-2A>G

SNV
Germline

Chr7:4787632

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Multiple Submitters
No Conflicts

CA153029024

rs_989538601

4 SubmittersRCV001529809 RCV002469403

NM_001244008.2(KIF1A):c.3931G>A (p.Glu1311Lys)

SNV
Germline

Chr2:240737139

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207574

rs_778239281

3 SubmittersRCV001532440 RCV001873777

NM_014846.4(WASHC5):c.2380-6T>C

SNV
Germline

Chr8:125047337

Conflicting classifications of pathogenicity

Condition: not provided
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA4873532

rs_375887732

2 SubmittersRCV001531090 RCV002568186

NM_003119.4(SPG7):c.1728G>A (p.Ser576=)

SNV
Germline

Chr16:89550558

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244373

rs_369686424

4 SubmittersRCV001531868 RCV001847299 RCV002070386

NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)

SNV
Germline

Chr17:5020827

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8319176

rs_759048539

3 SubmittersRCV001532295 RCV001847300 RCV003745340

NM_014946.4(SPAST):c.1537-8T>G

SNV
Somatic

Chr2:32143328

Pathogenic

Hereditary spastic paraplegia 4

No Assertion Criteria Provided

CA2499215913

rs_2148759354

1 SubmittersRCV001533203

NM_014946.4(SPAST):c.1414-2A>T

SNV
Germline/somatic

Chr2:32137107

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA346502375

rs_1553318304

3 SubmittersRCV001533204 RCV006683884

NM_014946.4(SPAST):c.1729-1G>C

SNV
Germline/somatic

Chr2:32154373

Likely pathogenic

Hereditary spastic paraplegia 4
Spasticity

Criteria Provided
Single Submitter

CA346505493

rs_1064793976

2 SubmittersRCV001533206 RCV005243585

NM_021830.5(TWNK):c.689G>T (p.Gly230Val)

SNV
Germline

Chr10:100988899

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5653101

rs_142978552

4 SubmittersRCV001541221 RCV001847301

NM_004984.4(KIF5A):c.687T>A (p.Tyr229Ter)

SNV
Germline

Chr12:57567591

Likely pathogenic

Hereditary spastic paraplegia 10

No Assertion Criteria Provided

CA385499480

rs_2140161617

1 SubmittersRCV001542684

NM_014844.5(TECPR2):c.2753-1G>A

SNV
Germline

Chr14:102443646

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

CA391067036

rs_1276623521

3 SubmittersRCV001542482

NM_014844.5(TECPR2):c.3789+1G>C

SNV
Germline

Chr14:102465290

Likely pathogenic

Hereditary spastic paraplegia 49

No Assertion Criteria Provided

CA391069445

rs_2139771776

1 SubmittersRCV001542483

NM_024306.5(FA2H):c.798C>G (p.Asp266Glu)

SNV
Germline

Chr16:74716588

Likely pathogenic

Hereditary spastic paraplegia 35

No Assertion Criteria Provided

CA396769309

rs_771402018

1 SubmittersRCV001542492

NM_014946.4(SPAST):c.430C>T (p.Gln144Ter)

SNV
Germline

Chr2:32087506

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346603100

rs_1553399476

2 SubmittersRCV001543548 RCV003523096

NM_014946.4(SPAST):c.1322-1G>A

SNV
Germline

Chr2:32136876

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502154

rs_1365753930

2 SubmittersRCV001552684 RCV006705552

NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp)

SNV
Germline

Chr2:240719841

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207240

rs_746442427

3 SubmittersRCV001556588 RCV001847302 RCV001882639

NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu)

SNV
Germline

Chr19:7556463

Pathogenic/Likely pathogenic

Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9140343

rs_541098659

3 SubmittersRCV001559127 RCV001859389 RCV005627433

NM_001244008.2(KIF1A):c.3609C>A (p.His1203Gln)

SNV
Germline

Chr2:240742960

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351316439

rs_1195379895

3 SubmittersRCV001560921 RCV002495894 RCV005225435

NM_002860.4(ALDH18A1):c.1363T>C (p.Leu455=)

SNV
Germline

Chr10:95621135

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA5620341

rs_753823851

3 SubmittersRCV001560669 RCV001847303 RCV005209548

NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr1:228166123

Pathogenic

Condition: not provided
Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Multiple Submitters
No Conflicts

CA1431100

rs_778374267

2 SubmittersRCV001568023 RCV002569041

NM_014855.3(AP5Z1):c.970-12C>G

SNV
Germline

Chr7:4785510

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137540

rs_372506896

2 SubmittersRCV001567464 RCV002072180

NM_015915.5(ATL1):c.1051A>G (p.Thr351Ala)

SNV
Germline

Chr14:50623180

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389674105

rs_2140234793

2 SubmittersRCV001564203 RCV002568431

NM_015915.5(ATL1):c.766C>G (p.His256Asp)

SNV
Germline

Chr14:50614415

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389671610

rs_2140226921

2 SubmittersRCV001569594 RCV001866014

NM_024989.3(PGAP1):c.-94G>A

SNV
Germline

Chr2:196926710

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA11134688

rs_186535521

2 SubmittersRCV001576563 RCV001847305

NM_001244008.2(KIF1A):c.4585G>T (p.Ala1529Ser)

SNV
Germline

Chr2:240722536

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA68137619

rs_572923181

3 SubmittersRCV001575171 RCV001866059 RCV004039435

NM_001166114.2(PNPLA6):c.3531G>C (p.Trp1177Cys)

SNV
Germline

Chr19:7558983

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA304882441

rs_150230845

2 SubmittersRCV001576030 RCV002569083

NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)

SNV
Germline

Chr9:132328188

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297410

rs_62576475

7 SubmittersRCV001579904 RCV001847306 RCV002458544 RCV003234084 RCV003234085 RCV003771763

NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)

SNV
Germline

Chr16:89531970

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243928

rs_537421502

6 SubmittersRCV001585089 RCV001847308 RCV003771770

NM_001244008.2(KIF1A):c.3602G>A (p.Arg1201His)

SNV
Germline

Chr2:240742967

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207736

rs_765118465

2 SubmittersRCV001658948 RCV001882758

NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)

SNV
Germline

Chr13:23338246

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911217

rs_772866081

4 SubmittersRCV001663558 RCV001832845 RCV001847316 RCV002538572

NM_014946.4(SPAST):c.1322-1G>T

SNV
Germline

Chr2:32136876

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502156

rs_1365753930

3 SubmittersRCV001663583 RCV003633593

NM_020435.4(GJC2):c.*157G>A

SNV
Germline

Chr1:228159235

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10754338

rs_45491398

2 SubmittersRCV001667996 RCV001847317

NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser)

SNV
Germline

Chr8:125067653

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8
not specified
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA4873890

rs_200456170

8 SubmittersRCV001702301 RCV001847320 RCV002538648 RCV004782773 RCV004815597

NM_002860.4(ALDH18A1):c.809-1G>C

SNV
Germline

Chr10:95628493

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 9A
ALDH18A1-related disorder
Autosomal dominant spastic paraplegia type 9
de Barsy syndrome
Cutis laxa, autosomal dominant 3

Criteria Provided
Conflicting Classifications

CA377704295

rs_1202802893

6 SubmittersRCV001703400 RCV003320377 RCV004536264 RCV006557608

NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)

SNV
Germline

Chr15:64980971

Pathogenic/Likely pathogenic

Mast syndrome
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA7613069

rs_555126484

9 SubmittersRCV001703293 RCV002473295 RCV005408987

NM_001160148.2(DDHD1):c.1842+1G>A

SNV
Germline

Chr14:53061125

Likely pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

CA389761642

rs_2139861782

1 SubmittersRCV001728084

NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)

SNV
Germline

Chr1:113901237

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 47

Criteria Provided
Multiple Submitters
No Conflicts

CA1016063

rs_762612591

4 SubmittersRCV001730199 RCV002539788

NM_001244008.2(KIF1A):c.1270G>A (p.Ala424Thr)

SNV
Germline

Chr2:240771042

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208462

rs_749112240

2 SubmittersRCV001732602 RCV002073974

NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)

SNV
Germline

Chr16:89553797

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397433455

rs_776380988

3 SubmittersRCV001754082 RCV001847324 RCV005094921

NM_015915.5(ATL1):c.1346C>A (p.Ala449Asp)

SNV
Germline

Chr14:50628257

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389676090

rs_1402672430

2 SubmittersRCV001754316 RCV006467815

NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp)

SNV
Germline

Chr2:240719907

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207255

rs_202072706

2 SubmittersRCV001758059 RCV002032790

NM_014844.5(TECPR2):c.1666A>G (p.Met556Val)

SNV
Germline

Chr14:102434483

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 49

Criteria Provided
Conflicting Classifications

CA7357768

rs_201791953

3 SubmittersRCV001770857 RCV002544011 RCV002540287

NM_014846.4(WASHC5):c.1945A>G (p.Ile649Val)

SNV
Germline

Chr8:125056748

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA4873675

rs_774897141

3 SubmittersRCV001763183 RCV005213570

NM_014946.4(SPAST):c.1031T>G (p.Ile344Arg)

SNV
Unknown

Chr2:32116145

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499655

rs_121908513

1 SubmittersRCV001754545

NM_002361.4(MAG):c.600A>T (p.Ser200=)

SNV
Germline

Chr19:35299738

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 75

Criteria Provided
Conflicting Classifications

CA9376055

rs_200695849

4 SubmittersRCV001754937 RCV002540378

NM_015046.7(SETX):c.2543T>G (p.Val848Gly)

SNV
Germline

Chr9:132329055

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5297573

rs_567711722

6 SubmittersRCV001758833 RCV001847330 RCV002540424 RCV003446904 RCV004536293 RCV006458651

NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter)

SNV
Germline

Chr9:128625141

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA375085018

rs_2131938862

2 SubmittersRCV001763569 RCV004785300

NM_001244008.2(KIF1A):c.3100C>T (p.Arg1034Cys)

SNV
Germline

Chr2:240746141

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA68157532

rs_1036143999

2 SubmittersRCV001771427 RCV001868617

NM_001244008.2(KIF1A):c.4068C>T (p.Asn1356=)

SNV
Germline

Chr2:240726880

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA432021122

rs_1481460597

2 SubmittersRCV001766020 RCV002077199

NM_001244008.2(KIF1A):c.4723G>A (p.Val1575Ile)

SNV
Germline

Chr2:240721827

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207340

rs_779019920

3 SubmittersRCV001774810 RCV005213586

NM_014946.4(SPAST):c.1817G>A (p.Arg606His)

SNV
Germline

Chr2:32154462

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1601031

rs_768077366

4 SubmittersRCV001771832 RCV006683887 RCV006392088

NM_001244008.2(KIF1A):c.3605G>A (p.Arg1202His)

SNV
Germline

Chr2:240742964

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207733

rs_770764947

2 SubmittersRCV001779680 RCV001885145

NM_014855.3(AP5Z1):c.1323G>A (p.Trp441Ter)

SNV
Germline

Chr7:4787645

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA366662851

rs_1233553130

1 SubmittersRCV001784677

NM_025137.4(SPG11):c.6999+1G>C

SNV
Germline

Chr15:44565853

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392213015

rs_1191614292

2 SubmittersRCV001785015 RCV003600419

NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)

SNV
Germline

Chr16:89524044

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8243632

rs_370777371

8 SubmittersRCV001785019 RCV004809673

NM_003119.4(SPG7):c.1936+2T>A

SNV
Germline

Chr16:89553137

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397433019

rs_1567933730

2 SubmittersRCV001783796

NM_001244008.2(KIF1A):c.5086C>A (p.Arg1696Ser)

SNV
Germline

Chr2:240719134

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207180

rs_772521110

2 SubmittersRCV001797487 RCV001885228

NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln)

SNV
Germline

Chr7:4784986

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4137433

rs_778734781

3 SubmittersRCV001799542 RCV004953068

NM_031448.6(C19orf12):c.152T>C (p.Leu51Pro)

SNV
Germline

Chr19:29708262

Likely pathogenic

Hereditary spastic paraplegia 43

Criteria Provided
Single Submitter

CA405145385

rs_2145639419

1 SubmittersRCV001806376

NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)

SNV
Germline

Chr1:109627793

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
not specified

Criteria Provided
Conflicting Classifications

CA992989

rs_776868175

3 SubmittersRCV001806390 RCV002542417 RCV004770209

NM_025137.4(SPG11):c.6778C>T (p.Gln2260Ter)

SNV
Germline

Chr15:44566282

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392213867

rs_2140914403

1 SubmittersRCV001806432

NM_025137.4(SPG11):c.6999+1G>A

SNV
Germline

Chr15:44565853

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA392213014

rs_1191614292

3 SubmittersRCV001808231 RCV002361066

NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter)

SNV
Germline

Chr1:113896309

Pathogenic

Hereditary spastic paraplegia 47

No Assertion Criteria Provided

CA341709921

rs_771888480

1 SubmittersRCV001815636

NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter)

SNV
Germline

Chr1:113896403

Pathogenic

Hereditary spastic paraplegia 47

No Assertion Criteria Provided

CA341710401

rs_114201291

1 SubmittersRCV001816566

NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr)

SNV
Unknown

Chr2:32137188

Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Single Submitter

CA346502548

rs_2148754411

2 SubmittersRCV001822087 RCV002473302

NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro)

SNV
Germline

Chr16:89531991

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA286544554

rs_1031614168

2 SubmittersRCV001822165 RCV004764972

NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)

SNV
Germline

Chr1:113899974

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA1015943

rs_763730264

4 SubmittersRCV001822290 RCV001847336 RCV003346698

NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)

SNV
Germline

Chr8:37744656

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4710687

rs_200292614

4 SubmittersRCV001817270 RCV001847337 RCV003588770 RCV003434323

NM_001244008.2(KIF1A):c.4812C>T (p.Thr1604=)

SNV
Germline

Chr2:240720970

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA432012053

rs_76974316

2 SubmittersRCV001817320 RCV003772288

NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)

SNV
Germline

Chr1:113895801

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
Hereditary spastic paraplegia 47
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1015726

rs_530540257

4 SubmittersRCV001817486 RCV001847338 RCV003346699 RCV005443403

NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys)

SNV
Germline

Chr2:240721032

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207306

rs_770455518

3 SubmittersRCV001822820 RCV001869777 RCV002478060

NM_001371279.1(REEP1):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr2:86232670

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347547195

rs_2104051740

2 SubmittersRCV001847503 RCV006437087

NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr)

SNV
Germline

Chr2:86282217

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 31

Criteria Provided
Conflicting Classifications

CA347722697

rs_1266102026

3 SubmittersRCV001847504 RCV003332349 RCV006468084

NM_001253852.3(AP4B1):c.924A>G (p.Pro308=)

SNV
Germline

Chr1:113900094

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA419703371

rs_1256078127

2 SubmittersRCV001847505 RCV002545256

NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln)

SNV
Germline

Chr19:45489370

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9516054

rs_369158895

3 SubmittersRCV001847507 RCV003365459 RCV003328486

NM_014363.6(SACS):c.11363G>A (p.Arg3788His)

SNV
Germline

Chr13:23332513

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6910293

rs_147369196

4 SubmittersRCV001847516 RCV002543356 RCV002543357 RCV003226495

NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys)

SNV
Germline

Chr13:23331295

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA387507424

rs_1486450052

2 SubmittersRCV001847518 RCV002543358

NM_014363.6(SACS):c.12835C>G (p.Leu4279Val)

SNV
Germline

Chr13:23331041

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910071

rs_537725928

4 SubmittersRCV001847519 RCV002543359 RCV005482908 RCV006437088

NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn)

SNV
Germline

Chr13:23331022

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910064

rs_371935764

3 SubmittersRCV001847520 RCV002543360 RCV006437089

NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)

SNV
Germline

Chr13:23330908

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910041

rs_150225486

4 SubmittersRCV001847521 RCV002473306 RCV002543361

NM_014363.6(SACS):c.21-6C>A

SNV
Germline

Chr13:23375275

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6912190

rs_767048737

2 SubmittersRCV001847526 RCV003750876

NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)

SNV
Germline

Chr13:23341312

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911668

rs_142037771

3 SubmittersRCV001847529 RCV002482393 RCV002543362

NM_007347.5(AP4E1):c.1686A>C (p.Thr562=)

SNV
Germline

Chr15:50958629

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7559135

rs_375848961

2 SubmittersRCV001847531 RCV005095319

NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser)

SNV
Germline

Chr13:23339759

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA387532419

rs_61326562

1 SubmittersRCV001847534

NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu)

SNV
Germline

Chr13:23339758

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA387532418

rs_61548169

1 SubmittersRCV001847535

NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr)

SNV
Germline

Chr13:23337499

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA246658149

rs_373982540

2 SubmittersRCV001847541 RCV002543363

NM_014363.6(SACS):c.8450C>T (p.Thr2817Met)

SNV
Germline

Chr13:23335426

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910760

rs_371652968

2 SubmittersRCV001847547 RCV002543365

NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)

SNV
Germline

Chr13:23335292

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387516311

rs_2137590717

3 SubmittersRCV001847548 RCV002543366 RCV004815647

NM_015046.7(SETX):c.1227A>G (p.Leu409=)

SNV
Germline

Chr9:132330371

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified

Criteria Provided
Conflicting Classifications

CA5297809

rs_769913556

4 SubmittersRCV001847553 RCV002227284 RCV002543367 RCV004998965

NM_015046.7(SETX):c.2427C>G (p.Ile809Met)

SNV
Germline

Chr9:132329171

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297593

rs_765654690

2 SubmittersRCV001847558 RCV003772374

NM_015046.7(SETX):c.2711A>G (p.Asn904Ser)

SNV
Germline

Chr9:132328887

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297548

rs_143265750

3 SubmittersRCV001847559 RCV003482373 RCV005225524

NM_015046.7(SETX):c.304A>G (p.Thr102Ala)

SNV
Germline

Chr9:132346345

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5298085

rs_770962447

3 SubmittersRCV001848119 RCV002034740 RCV002449445

NM_015046.7(SETX):c.3555G>A (p.Gln1185=)

SNV
Germline

Chr9:132328043

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297379

rs_762171056

2 SubmittersRCV001848120 RCV002077332

NM_015046.7(SETX):c.43A>G (p.Ile15Val)

SNV
Germline

Chr9:132349386

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5298146

rs_151040199

3 SubmittersRCV001848122 RCV002034741 RCV003234117 RCV003234118

NM_015046.7(SETX):c.5973C>T (p.Asp1991=)

SNV
Germline

Chr9:132296005

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA467428419

rs_1210056357

2 SubmittersRCV001848124 RCV003772375

NM_015046.7(SETX):c.6024T>C (p.Pro2008=)

SNV
Germline

Chr9:132295954

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA200818192

rs_1045096306

4 SubmittersRCV001848125 RCV002074408 RCV004998966 RCV004536353

NM_015046.7(SETX):c.667C>A (p.Leu223Ile)

SNV
Germline

Chr9:132336347

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297986

rs_774068411

6 SubmittersRCV001848128 RCV002361084 RCV003234119 RCV003234120 RCV004536354 RCV005213613 RCV006280699

NM_015046.7(SETX):c.77C>T (p.Pro26Leu)

SNV
Germline

Chr9:132349352

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5298138

rs_377617692

5 SubmittersRCV001848131 RCV003120722 RCV005482909 RCV006256926

NM_006517.5(SLC16A2):c.1231G>A (p.Gly411Arg)

SNV
Germline

ChrX:74529273

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10454512

rs_147814121

3 SubmittersRCV001848133 RCV001885405 RCV005482910

NM_014946.4(SPAST):c.1005-1G>C

SNV
Germline

Chr2:32116118

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA346499580

rs_1553315318

1 SubmittersRCV001848138

NM_014946.4(SPAST):c.1091G>C (p.Arg364Thr)

SNV
Germline

Chr2:32116205

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA346499862

rs_1553315355

1 SubmittersRCV001848140

NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)

SNV
Germline

Chr2:32127000

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501302

rs_1573139616

2 SubmittersRCV001848142 RCV002543369

NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)

SNV
Germline

Chr2:32128443

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA346501436

rs_1553317030

1 SubmittersRCV001848144

NM_014946.4(SPAST):c.1321+1G>T

SNV
Germline

Chr2:32136639

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA346502147

rs_2148753724

1 SubmittersRCV001848148

NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter)

SNV
Germline

Chr2:32136900

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA346502211

rs_2148753960

1 SubmittersRCV001848151

NM_014946.4(SPAST):c.1361A>G (p.Glu454Gly)

SNV
Germline

Chr2:32136916

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA346502249

rs_2148753986

1 SubmittersRCV001848152

NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)

SNV
Germline

Chr2:32141946

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346503021

rs_1553319093

3 SubmittersRCV001848157 RCV002478078

NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)

SNV
Germline

Chr2:32064192

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346602393

rs_1553394620

2 SubmittersRCV001848165 RCV002543370

NM_014946.4(SPAST):c.871-1G>A

SNV
Germline

Chr2:32115701

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346499027

rs_1057524526

3 SubmittersRCV001848174 RCV003132544

NM_004722.4(AP4M1):c.1044C>T (p.Ser348=)

SNV
Germline

Chr7:100106421

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 50

Criteria Provided
Conflicting Classifications

CA456714363

rs_746663793

3 SubmittersRCV001848176 RCV003136188

NM_025137.4(SPG11):c.1435C>T (p.Gln479Ter)

SNV
Germline

Chr15:44651512

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA392235842

rs_2141105806

1 SubmittersRCV001848177

NM_025137.4(SPG11):c.2570G>A (p.Trp857Ter)

SNV
Germline

Chr15:44621809

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11
Autosomal recessive SPG11-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA392231501

rs_2141027825

3 SubmittersRCV001848186 RCV005253899 RCV006695059

NM_025137.4(SPG11):c.3036C>A (p.Tyr1012Ter)

SNV
Germline

Chr15:44615365

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA392229013

rs_2083566245

1 SubmittersRCV001848191

NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)

SNV
Germline

Chr15:44600505

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7534883

rs_370282739

3 SubmittersRCV001848193 RCV001885409 RCV002468335 RCV002468336

NM_025137.4(SPG11):c.6780G>A (p.Gln2260=)

SNV
Germline

Chr15:44566280

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7534004

rs_770643416

2 SubmittersRCV001848204 RCV002074409

NM_016630.7(SPG21):c.153T>C (p.Pro51=)

SNV
Germline

Chr15:64980936

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Mast syndrome

Criteria Provided
Conflicting Classifications

CA7613061

rs_771940904

2 SubmittersRCV001848213 RCV002543373

NM_016630.7(SPG21):c.243T>C (p.Tyr81=)

SNV
Germline

Chr15:64976538

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Mast syndrome

Criteria Provided
Conflicting Classifications

CA7613015

rs_373904630

2 SubmittersRCV001848216 RCV002543375

NM_016630.7(SPG21):c.613C>T (p.Gln205Ter)

SNV
Germline

Chr15:64969311

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA392866677

rs_2140415380

1 SubmittersRCV001848220

NM_016630.7(SPG21):c.64A>G (p.Ile22Val)

SNV
Germline

Chr15:64981025

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Mast syndrome

Criteria Provided
Conflicting Classifications

CA7613085

rs_146092558

2 SubmittersRCV001848221 RCV002543378

NM_003119.4(SPG7):c.1257C>T (p.Thr419=)

SNV
Germline

Chr16:89532569

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244013

rs_766401031

2 SubmittersRCV001848229 RCV006468088

NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala)

SNV
Germline

Chr16:89550560

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA397431066

rs_1329063851

3 SubmittersRCV001885410 RCV001848232 RCV003331216

NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr)

SNV
Germline

Chr16:89553805

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA397433528

rs_769602042

1 SubmittersRCV001848235

NM_003119.4(SPG7):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr16:89510550

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA8243476

rs_146115797

2 SubmittersRCV001848240 RCV003617944

NM_003119.4(SPG7):c.618+8A>G

SNV
Germline

Chr16:89524255

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243686

rs_768740995

2 SubmittersRCV001848242 RCV002074410

NM_003119.4(SPG7):c.878C>T (p.Ala293Val)

SNV
Germline

Chr16:89530699

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243834

rs_201723702

3 SubmittersRCV001848245 RCV001885412

NM_014844.5(TECPR2):c.2394+3A>G

SNV
Germline

Chr14:102435214

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 49
Condition: not provided
TECPR2-related disorder

Criteria Provided
Conflicting Classifications

CA7357904

rs_776681603

4 SubmittersRCV001848252 RCV002545261 RCV003401754 RCV003923336

NM_014844.5(TECPR2):c.708A>G (p.Ser236=)

SNV
Germline

Chr14:102425048

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA488190411

rs_2139716000

2 SubmittersRCV001848265 RCV003401755

NM_015346.4(ZFYVE26):c.1944T>C (p.His648=)

SNV
Germline

Chr14:67798318

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA486971215

rs_1466130502

2 SubmittersRCV001848287 RCV002077333

NM_015346.4(ZFYVE26):c.4073G>A (p.Arg1358His)

SNV
Germline

Chr14:67783079

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7239840

rs_138424288

3 SubmittersRCV001848299 RCV005308519 RCV006280702

NM_014855.3(AP5Z1):c.1043C>T (p.Ser348Phe)

SNV
Germline

Chr7:4785595

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137575

rs_547137141

4 SubmittersRCV001848301 RCV003434330 RCV003992566

NM_015346.4(ZFYVE26):c.4663C>T (p.Leu1555=)

SNV
Germline

Chr14:67780252

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA486773851

rs_2039462773

2 SubmittersRCV001848302 RCV003588774

NM_015346.4(ZFYVE26):c.5073G>A (p.Val1691=)

SNV
Germline

Chr14:67776008

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA486970496

rs_2140212459

2 SubmittersRCV001848305 RCV002543383

NM_015346.4(ZFYVE26):c.6897G>A (p.Leu2299=)

SNV
Germline

Chr14:67755140

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA486762560

rs_2140184412

2 SubmittersRCV001848312 RCV002074411

NM_002860.4(ALDH18A1):c.1111C>T (p.Arg371Ter)

SNV
Germline

Chr10:95626744

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Autosomal recessive complex spastic paraplegia type 9B

Criteria Provided
Multiple Submitters
No Conflicts

CA377703010

rs_775201668

2 SubmittersRCV001848313 RCV005412285

NM_014855.3(AP5Z1):c.117G>A (p.Pro39=)

SNV
Germline

Chr7:4781250

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137048

rs_527642993

2 SubmittersRCV001848314 RCV002543384

NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter)

SNV
Germline

Chr7:4788242

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA366663286

rs_1342590804

1 SubmittersRCV001848317

NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=)

SNV
Germline

Chr7:4788909

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137960

rs_761290075

2 SubmittersRCV001848320 RCV002545266

NM_014855.3(AP5Z1):c.1674G>T (p.Thr558=)

SNV
Germline

Chr7:4788918

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137964

rs_374928584

2 SubmittersRCV001848321 RCV005095322

NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=)

SNV
Germline

Chr7:4781304

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137066

rs_750818039

2 SubmittersRCV001848322 RCV003598062

NM_014855.3(AP5Z1):c.1989C>T (p.Thr663=)

SNV
Germline

Chr7:4790723

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4138253

rs_547171686

3 SubmittersRCV001848325 RCV005095323 RCV005374817

NM_014855.3(AP5Z1):c.2289G>C (p.Val763=)

SNV
Germline

Chr7:4791250

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA153036858

rs_925870726

2 SubmittersRCV001848329 RCV002034750

NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)

SNV
Germline

Chr10:95621163

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

CA5620346

rs_771965130

2 SubmittersRCV001848330 RCV003772376

NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter)

SNV
Germline

Chr7:4781659

Likely pathogenic

Hereditary spastic paraplegia
Uterine corpus endometrial carcinoma

Criteria Provided
Single Submitter

CA4137129

rs_767325342

2 SubmittersRCV001848333 RCV005922793

NM_014855.3(AP5Z1):c.699A>G (p.Thr233=)

SNV
Germline

Chr7:4784280

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137324

rs_761636459

2 SubmittersRCV001848339 RCV002543389

NM_014855.3(AP5Z1):c.948G>C (p.Gly316=)

SNV
Germline

Chr7:4785431

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137504

rs_769272823

2 SubmittersRCV001848340 RCV002543390

NM_002860.4(ALDH18A1):c.454-9A>G

SNV
Germline

Chr10:95637206

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
de Barsy syndrome
Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9

Criteria Provided
Conflicting Classifications

CA5620596

rs_775098819

2 SubmittersRCV001848354 RCV003772377

NM_021830.5(TWNK):c.478C>T (p.Arg160Ter)

SNV
Germline

Chr10:100988688

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Perrault syndrome 5

Criteria Provided
Conflicting Classifications

CA378207467

rs_1851660058

2 SubmittersRCV001848357 RCV005052842

NM_152269.5(MTRFR):c.333C>A (p.Ile111=)

SNV
Germline

Chr12:123256863

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Combined oxidative phosphorylation defect type 7
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6856585

rs_769551356

3 SubmittersRCV001848360 RCV002543393 RCV003394280

NM_031448.6(C19orf12):c.180G>C (p.Leu60=)

SNV
Germline

Chr19:29702958

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 43

Criteria Provided
Conflicting Classifications

CA506988364

rs_762116472

2 SubmittersRCV001848365 RCV002543394

NM_183075.3(CYP2U1):c.1288+1G>A

SNV
Germline

Chr4:107947538

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA102868207

rs_781551534

1 SubmittersRCV001848371

NM_183075.3(CYP2U1):c.888T>C (p.Ser296=)

SNV
Germline

Chr4:107945367

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA3037075

rs_369116680

2 SubmittersRCV001848378 RCV002543395

NM_004820.5(CYP7B1):c.515C>A (p.Thr172Asn)

SNV
Germline

Chr8:64616026

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA4764194

rs_569241534

2 SubmittersRCV001848385 RCV002034754

NM_001160148.2(DDHD1):c.1014T>C (p.Ala338=)

SNV
Germline

Chr14:53093443

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

CA7191334

rs_542200589

2 SubmittersRCV001848388 RCV006629324

NM_001160148.2(DDHD1):c.1142-7T>C

SNV
Germline

Chr14:53091939

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

CA7191304

rs_748714439

2 SubmittersRCV001848389 RCV003120723

NM_001160148.2(DDHD1):c.684T>C (p.Asp228=)

SNV
Germline

Chr14:53152415

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

CA486657864

rs_1382953265

2 SubmittersRCV001848398 RCV002543398

NM_001160148.2(DDHD1):c.960G>A (p.Gln320=)

SNV
Germline

Chr14:53103735

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 28

Criteria Provided
Conflicting Classifications

CA486427348

rs_2139724476

2 SubmittersRCV001848400 RCV002077334

NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg)

SNV
Germline

Chr8:38234566

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 54

Criteria Provided
Conflicting Classifications

CA4715955

rs_201121892

2 SubmittersRCV001848406 RCV002543399

NM_015214.3(DDHD2):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr8:38245749

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA4716105

rs_764638887

3 SubmittersRCV001848409 RCV003388054

NM_006459.4(ERLIN1):c.315C>T (p.Ile105=)

SNV
Germline

Chr10:100176060

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 62
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5646097

rs_373926474

3 SubmittersRCV001848427 RCV003772380 RCV005642641

NM_006459.4(ERLIN1):c.762C>A (p.Ala254=)

SNV
Germline

Chr10:100154923

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 62

Criteria Provided
Conflicting Classifications

CA5646004

rs_143495333

2 SubmittersRCV001848429 RCV002074412

NM_024306.5(FA2H):c.227G>A (p.Trp76Ter)

SNV
Germline

Chr16:74774529

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA396768150

rs_1225330805

1 SubmittersRCV001848434

NM_020944.3(GBA2):c.1848T>C (p.Asp616=)

SNV
Germline

Chr9:35738851

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5050265

rs_766509602

3 SubmittersRCV001848440 RCV002545270 RCV006730672

NM_020944.3(GBA2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr9:35748704

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5050809

rs_770566458

3 SubmittersRCV001848441 RCV003226496 RCV004793530

NM_020944.3(GBA2):c.300C>G (p.Pro100=)

SNV
Germline

Chr9:35748405

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5050763

rs_202140393

2 SubmittersRCV001848442 RCV003750877

NM_020919.4(ALS2):c.2583A>G (p.Ala861=)

SNV
Germline

Chr2:201729181

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

CA430645898

rs_1260262428

2 SubmittersRCV001848452 RCV003611563

NM_014846.4(WASHC5):c.3276C>T (p.Thr1092=)

SNV
Germline

Chr8:125032300

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA4873263

rs_554772608

2 SubmittersRCV001848473 RCV002543403

NM_001244008.2(KIF1A):c.1740A>G (p.Lys580=)

SNV
Germline

Chr2:240765738

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA432036073

rs_2051091768

2 SubmittersRCV001848476 RCV002077335

NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu)

SNV
Germline

Chr2:240722526

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207381

rs_779578515

2 SubmittersRCV001848482 RCV003772385

NM_001244008.2(KIF1A):c.5274C>T (p.Ser1758=)

SNV
Germline

Chr2:240718109

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA68131826

rs_899778611

3 SubmittersRCV001848486 RCV002074413 RCV004738395

NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln)

SNV
Germline

Chr2:240717371

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA351297194

rs_1349426679

3 SubmittersRCV001848487 RCV002034762 RCV002343879

NM_001244008.2(KIF1A):c.799-5C>T

SNV
Germline

Chr2:240783114

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA540532048

rs_1328471853

3 SubmittersRCV001848490 RCV002074414 RCV004536355

NM_006612.6(KIF1C):c.1023T>C (p.Tyr341=)

SNV
Germline

Chr17:5004858

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8318850

rs_758863136

2 SubmittersRCV001848492 RCV002543404

NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr)

SNV
Germline

Chr17:5006947

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8318902

rs_755935386

3 SubmittersRCV001848493 RCV002543406 RCV002543405

NM_006612.6(KIF1C):c.1292C>T (p.Thr431Met)

SNV
Germline

Chr17:5007041

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318922

rs_139663513

3 SubmittersRCV001848494 RCV002034763 RCV004693779

NM_006612.6(KIF1C):c.2674C>T (p.Pro892Ser)

SNV
Germline

Chr17:5023513

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8319358

rs_561679213

2 SubmittersRCV001848505 RCV005095325

NM_006612.6(KIF1C):c.3234C>T (p.Tyr1078=)

SNV
Germline

Chr17:5024073

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8319513

rs_771822956

2 SubmittersRCV001848511 RCV005095326

NM_006612.6(KIF1C):c.702G>C (p.Thr234=)

SNV
Germline

Chr17:5002824

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8318648

rs_150944204

2 SubmittersRCV001848515 RCV003583200

NM_004984.4(KIF5A):c.1173C>T (p.Ala391=)

SNV
Germline

Chr12:57570042

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6652781

rs_780381269

2 SubmittersRCV001848517 RCV002074416

NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys)

SNV
Germline

Chr12:57576852

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6653066

rs_749616160

3 SubmittersRCV001848519 RCV001885416 RCV005652715

NM_004984.4(KIF5A):c.397-9C>A

SNV
Germline

Chr12:57564451

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2573053732

rs_777193528

2 SubmittersRCV001848525 RCV006468093

NM_001278116.2(L1CAM):c.1147C>T (p.Arg383Trp)

SNV
Germline

ChrX:153869640

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10554418

rs_782361186

2 SubmittersRCV001848529 RCV005095327

NM_001278116.2(L1CAM):c.198-8G>A

SNV
Germline

ChrX:153872362

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA337264280

rs_201664558

2 SubmittersRCV001848530 RCV003772387

NM_001278116.2(L1CAM):c.2209-9C>T

SNV
Germline

ChrX:153866880

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA337261327

rs_201704250

2 SubmittersRCV001848532 RCV002543409

NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=)

SNV
Germline

ChrX:153864879

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA337259765

rs_200863731

2 SubmittersRCV001848534 RCV003772388

NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=)

SNV
Germline

ChrX:153864867

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10554048

rs_149420127

3 SubmittersRCV001848536 RCV003434331 RCV003588775

NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys)

SNV
Germline

ChrX:153864475

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10554011

rs_782180684

2 SubmittersRCV001848537 RCV003588776

NM_001278116.2(L1CAM):c.401-7C>G

SNV
Germline

ChrX:153871186

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA873291801

rs_1424993007

2 SubmittersRCV001848538 RCV003588777

NM_144599.5(NIPA1):c.222C>T (p.Ile74=)

SNV
Germline

Chr15:22810792

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 6

Criteria Provided
Conflicting Classifications

CA7426178

rs_778472114

2 SubmittersRCV001848541 RCV002543410

NM_144599.5(NIPA1):c.479-7G>T

SNV
Germline

Chr15:22823721

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 6
NIPA1-related disorder

Criteria Provided
Conflicting Classifications

CA7426062

rs_758551462

3 SubmittersRCV001848542 RCV002543411 RCV003968587

NM_001351169.2(NT5C2):c.176-10C>T

SNV
Germline

Chr10:103106716

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 45

Criteria Provided
Conflicting Classifications

CA5671167

rs_753603040

2 SubmittersRCV001848546 RCV003772389

NM_001351169.2(NT5C2):c.540-4G>A

SNV
Germline

Chr10:103100023

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 45
Inborn genetic diseases
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA5671049

rs_201261415

4 SubmittersRCV001848548 RCV002074417 RCV002543413 RCV005922795

NM_024989.4(PGAP1):c.1638A>G (p.Glu546=)

SNV
Germline

Chr2:196872531

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42

Criteria Provided
Conflicting Classifications

CA2040848

rs_142482606

2 SubmittersRCV001848550 RCV002074418

NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)

SNV
Germline

Chr2:196844025

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42

Criteria Provided
Conflicting Classifications

CA2040636

rs_768328398

2 SubmittersRCV001848555 RCV002543416

NM_024989.4(PGAP1):c.492T>G (p.Ala164=)

SNV
Germline

Chr2:196913039

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42
Condition: not provided

Criteria Provided
Conflicting Classifications

CA430547665

rs_1246230813

3 SubmittersRCV001848559 RCV002543418 RCV004693780

NM_024989.4(PGAP1):c.585T>C (p.Asn195=)

SNV
Germline

Chr2:196912946

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42

Criteria Provided
Conflicting Classifications

CA62804574

rs_1038323136

2 SubmittersRCV001848560 RCV002074419

NM_024989.4(PGAP1):c.636T>C (p.Asp212=)

SNV
Germline

Chr2:196912895

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Intellectual disability, autosomal recessive 42

Criteria Provided
Conflicting Classifications

CA430547532

rs_1337628147

2 SubmittersRCV001848562 RCV006468094

NM_000533.5(PLP1):c.436C>T (p.Leu146=)

SNV
Germline

ChrX:103786709

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Pelizaeus-Merzbacher disease

Criteria Provided
Conflicting Classifications

CA518092054

rs_2147764616

2 SubmittersRCV001848568 RCV004595631

NM_000533.5(PLP1):c.442C>T (p.His148Tyr)

SNV
Germline

ChrX:103786715

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA414102951

rs_2147764634

3 SubmittersRCV001848569 RCV002286852 RCV002545276

NM_001166114.2(PNPLA6):c.1638C>T (p.Gly546=)

SNV
Germline

Chr19:7549936

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA505241657

rs_2146086468

2 SubmittersRCV001848573 RCV003617945

NM_001166114.2(PNPLA6):c.3990C>A (p.Pro1330=)

SNV
Germline

Chr19:7561284

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA505404908

rs_535388759

2 SubmittersRCV001848583 RCV002545277

NM_001253852.3(AP4B1):c.567G>A (p.Gln189=)

SNV
Germline

Chr1:113901286

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA28998234

rs_933273265

2 SubmittersRCV001848588 RCV005095328

NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)

SNV
Germline

Chr1:113902672

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 47
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1016142

rs_777248758

6 SubmittersRCV001849775 RCV002503345 RCV006458690

NM_001244008.2(KIF1A):c.3585C>T (p.Ser1195=)

SNV
Germline

Chr2:240742984

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA68154638

rs_907370883

2 SubmittersRCV001998162 RCV002442978

NM_001244008.2(KIF1A):c.4045A>C (p.Met1349Leu)

SNV
Germline

Chr2:240726903

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207510

rs_777103421

2 SubmittersRCV002035890 RCV002324474

NM_003119.4(SPG7):c.1324+2T>G

SNV
Germline

Chr16:89532638

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397421399

rs_1597635592

2 SubmittersRCV002035895

NM_014844.5(TECPR2):c.2578+2T>C

SNV
Germline

Chr14:102438207

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391066140

rs_2139736635

1 SubmittersRCV001988824

NM_001244008.2(KIF1A):c.2482G>A (p.Ala828Thr)

SNV
Germline

Chr2:240758460

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208086

rs_780483327

2 SubmittersRCV001942913 RCV006280788

NM_001244008.2(KIF1A):c.2078C>T (p.Pro693Leu)

SNV
Germline

Chr2:240762757

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208207

rs_756842462

2 SubmittersRCV001999046 RCV002281207

NM_025137.4(SPG11):c.4498A>G (p.Thr1500Ala)

SNV
Germline

Chr15:44595396

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534657

rs_758867131

2 SubmittersRCV001990701 RCV002571202

NM_014844.5(TECPR2):c.3686G>A (p.Trp1229Ter)

SNV
Germline

Chr14:102465186

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391069214

rs_2139771589

1 SubmittersRCV001880503

NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)

SNV
Germline

Chr12:57583112

Conflicting classifications of pathogenicity

Spastic paraplegia
Amyotrophic lateral sclerosis, susceptibility to, 25
Hereditary spastic paraplegia 10
Myoclonus, intractable, neonatal
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6653307

rs_751496558

3 SubmittersRCV001924858 RCV002490120 RCV005584933

NM_003119.4(SPG7):c.1061G>C (p.Gly354Ala)

SNV
Germline

Chr16:89531977

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397420263

rs_2152403446

1 SubmittersRCV002048850

NM_001166114.2(PNPLA6):c.1005C>T (p.His335=)

SNV
Germline

Chr19:7541434

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
PNPLA6-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9139635

rs_769241929

3 SubmittersRCV001893447 RCV004542162 RCV006442463

NM_001244008.2(KIF1A):c.3554C>T (p.Pro1185Leu)

SNV
Germline

Chr2:240743972

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
KIF1A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351316707

rs_1316844536

4 SubmittersRCV001950631 RCV002458856 RCV004538660 RCV005626558

NM_001244008.2(KIF1A):c.1168G>A (p.Asp390Asn)

SNV
Germline

Chr2:240773126

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68128592

rs_1049441176

2 SubmittersRCV001993639 RCV004591672

NM_001166114.2(PNPLA6):c.3355G>C (p.Gly1119Arg)

SNV
Germline

Chr19:7557242

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403133910

rs_773955314

1 SubmittersRCV002015442

NM_015346.4(ZFYVE26):c.961A>T (p.Lys321Ter)

SNV
Germline

Chr14:67806601

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390160222

rs_375820273

2 SubmittersRCV001994570 RCV006270244

NM_025137.4(SPG11):c.6844-2A>G

SNV
Germline

Chr15:44566011

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392213494

rs_2140913822

1 SubmittersRCV001985798

NM_025137.4(SPG11):c.1090C>T (p.Gln364Ter)

SNV
Germline

Chr15:44651857

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392236614

rs_2141107140

2 SubmittersRCV001939378 RCV006685515

NM_014946.4(SPAST):c.1164G>C (p.Lys388Asn)

SNV
Germline

Chr2:32127013

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346501329

rs_1553316838

2 SubmittersRCV001960564 RCV005412342

NM_001244008.2(KIF1A):c.919C>T (p.Arg307Ter)

SNV
Germline

Chr2:240775890

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA68130972

rs_369692236

1 SubmittersRCV001941826

NM_025137.4(SPG11):c.1354C>T (p.Leu452Phe)

SNV
Germline

Chr15:44651593

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535570

rs_141396952

2 SubmittersRCV002033882 RCV002386866

NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter)

SNV
Germline

Chr1:113900033

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

CA341712827

rs_2101024933

1 SubmittersRCV001900134

NM_003119.4(SPG7):c.971T>C (p.Phe324Ser)

SNV
Germline

Chr16:89530792

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397419239

rs_2152402791

1 SubmittersRCV001884295

NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)

SNV
Germline

Chr2:32064171

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346602341

rs_1553394608

4 SubmittersRCV001960327 RCV003482387

NM_014946.4(SPAST):c.415+1G>A

SNV
Germline

Chr2:32064247

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346602523

rs_1057521135

1 SubmittersRCV001960331

NM_014946.4(SPAST):c.1163A>G (p.Lys388Arg)

SNV
Germline

Chr2:32127012

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501327

rs_1553316837

1 SubmittersRCV001960346

NM_025137.4(SPG11):c.6585+2T>G

SNV
Germline

Chr15:44569396

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392215638

rs_2140920796

1 SubmittersRCV002033719

NM_025137.4(SPG11):c.6452C>G (p.Ala2151Gly)

SNV
Germline

Chr15:44570550

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534129

rs_763676031

2 SubmittersRCV002029756 RCV002545297

NM_025137.4(SPG11):c.6447C>A (p.His2149Gln)

SNV
Germline

Chr15:44570555

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534131

rs_373897153

2 SubmittersRCV002029757 RCV002545298

NM_024306.5(FA2H):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:74774755

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA396768614

rs_1962978958

2 SubmittersRCV001880791 RCV003989725

NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser)

SNV
Germline

Chr2:32116195

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346499830

rs_1553315350

2 SubmittersRCV001911794

NM_001244008.2(KIF1A):c.4592C>T (p.Ser1531Phe)

SNV
Germline

Chr2:240722529

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207382

rs_748858949

2 SubmittersRCV001936242 RCV004591644

NM_003119.4(SPG7):c.987+5A>C

SNV
Germline

Chr16:89530813

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8243864

rs_4785691

3 SubmittersRCV001886752 RCV004793571 RCV005437400

NM_004722.4(AP4M1):c.220G>A (p.Val74Ile)

SNV
Germline

Chr7:100102747

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4374512

rs_377178447

2 SubmittersRCV001987553 RCV002562864

NM_015915.5(ATL1):c.997A>G (p.Ile333Val)

SNV
Germline

Chr14:50621849

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180400

rs_749993404

2 SubmittersRCV001958165 RCV004681349

NM_003119.4(SPG7):c.2290A>G (p.Ile764Val)

SNV
Germline

Chr16:89556995

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286509904

rs_942740771

2 SubmittersRCV001975782 RCV004671579

NM_001244008.2(KIF1A):c.958+1G>C

SNV
Germline

Chr2:240775850

Likely pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351297547

rs_780380861

1 SubmittersRCV002002790

NM_025137.4(SPG11):c.258-2A>C

SNV
Germline

Chr15:44660618

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7535887

rs_781665076

3 SubmittersRCV002012964 RCV002458967 RCV005008389

NM_014946.4(SPAST):c.1637G>T (p.Gly546Val)

SNV
Germline

Chr2:32144957

Likely pathogenic

Hereditary spastic paraplegia 4
SPAST-related disorder
Melanoma

Criteria Provided
Single Submitter

CA346504194

rs_786204057

3 SubmittersRCV002005404 RCV004753457 RCV005925431

NM_014946.4(SPAST):c.1304C>T (p.Pro435Leu)

SNV
Germline

Chr2:32136621

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502105

rs_1553318182

1 SubmittersRCV001905076

NM_001371279.1(REEP1):c.106-6C>G

SNV
Germline

Chr2:86264047

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1748812

rs_751690452

2 SubmittersRCV001954561 RCV002407083

NM_001166114.2(PNPLA6):c.3296A>G (p.Tyr1099Cys)

SNV
Germline

Chr19:7557183

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403133707

rs_2146110600

1 SubmittersRCV001889812

NM_025137.4(SPG11):c.1171A>G (p.Ile391Val)

SNV
Germline

Chr15:44651776

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7535601

rs_145958193

2 SubmittersRCV002036914 RCV004671634

NM_001166114.2(PNPLA6):c.897C>A (p.Tyr299Ter)

SNV
Germline

Chr19:7541024

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403106843

rs_1568408269

1 SubmittersRCV001889568

NM_025137.4(SPG11):c.6586-1G>A

SNV
Germline

Chr15:44567593

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392215505

rs_1060501174

1 SubmittersRCV001976351

NM_001244008.2(KIF1A):c.385C>T (p.Arg129Trp)

SNV
Germline

Chr2:240787295

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68141955

rs_868067075

3 SubmittersRCV002042729 RCV002352728 RCV003154055

NM_025137.4(SPG11):c.258-2A>G

SNV
Germline

Chr15:44660618

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392238468

rs_781665076

1 SubmittersRCV002022588

NM_001244008.2(KIF1A):c.3101G>A (p.Arg1034His)

SNV
Germline

Chr2:240746140

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207902

rs_375775494

2 SubmittersRCV001927796 RCV002324309

NM_001244008.2(KIF1A):c.153C>G (p.Ser51Arg)

SNV
Germline

Chr2:240789266

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68143373

rs_919187835

3 SubmittersRCV001959730 RCV003152780 RCV004728963

NM_001244008.2(KIF1A):c.3943G>A (p.Asp1315Asn)

SNV
Germline

Chr2:240737127

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207569

rs_749879166

2 SubmittersRCV002044484 RCV003317537

NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)

SNV
Germline

Chr2:240783777

Likely pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351303126

rs_879253888

1 SubmittersRCV001971587

NM_025137.4(SPG11):c.1008-1G>A

SNV
Germline

Chr15:44651940

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392236800

rs_2141107413

1 SubmittersRCV002020357

NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)

SNV
Germline

Chr2:240797674

Likely pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351315657

rs_2056552812

1 SubmittersRCV002020498

NM_014946.4(SPAST):c.153C>G (p.Tyr51Ter)

SNV
Germline

Chr2:32063984

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346601490

rs_1462628095

2 SubmittersRCV001874649

NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter)

SNV
Germline

Chr1:228166151

Pathogenic

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Single Submitter

CA345106881

rs_775646159

1 SubmittersRCV001903204

NM_000533.5(PLP1):c.464T>A (p.Ile155Asn)

SNV
Germline

ChrX:103787808

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA414103579

rs_2147765890

2 SubmittersRCV002047866 RCV005861275

NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys)

SNV
Germline

Chr2:240719811

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207235

rs_372226807

2 SubmittersRCV001887446 RCV002334834

NM_001244008.2(KIF1A):c.2344A>G (p.Lys782Glu)

SNV
Germline

Chr2:240760765

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208123

rs_569071678

2 SubmittersRCV001988651 RCV002466732

NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp)

SNV
Germline

Chr16:89553919

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397434318

rs_1249957920

3 SubmittersRCV001892263 RCV002552317 RCV004728890

NM_001244008.2(KIF1A):c.2138G>A (p.Cys713Tyr)

SNV
Germline

Chr2:240761356

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208173

rs_763443113

2 SubmittersRCV001884654 RCV005414615

NM_004722.4(AP4M1):c.463-2A>T

SNV
Germline

Chr7:100103610

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

CA163214917

rs_750783717

1 SubmittersRCV001977862

NM_025137.4(SPG11):c.668-1G>T

SNV
Germline

Chr15:44657297

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392237551

rs_2141121333

1 SubmittersRCV002025794

NM_001244008.2(KIF1A):c.2389G>T (p.Glu797Ter)

SNV
Germline

Chr2:240760720

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351324684

rs_2125889990

1 SubmittersRCV002007228

NM_025137.4(SPG11):c.4562C>G (p.Ser1521Ter)

SNV
Germline

Chr15:44595332

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392226239

rs_1337761270

1 SubmittersRCV002007274

NM_001244008.2(KIF1A):c.4085G>A (p.Arg1362Gln)

SNV
Germline

Chr2:240726863

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207505

rs_753620726

3 SubmittersRCV001893596 RCV002324291 RCV006730691

NM_001371279.1(REEP1):c.460C>T (p.Gln154Ter)

SNV
Germline

Chr2:86232760

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347547484

rs_2104054009

1 SubmittersRCV001994630

NM_014946.4(SPAST):c.1226C>A (p.Ala409Glu)

SNV
Germline

Chr2:32128460

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501477

rs_2148746390

1 SubmittersRCV002037743

NM_006070.6(TFG):c.64C>T (p.Arg22Trp)

SNV
Germline

Chr3:100713749

Pathogenic

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA79694289

rs_989357227

2 SubmittersRCV002000010 RCV005437444

NM_001166114.2(PNPLA6):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr19:7543082

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403115199

rs_1416173690

1 SubmittersRCV002000047

NM_014946.4(SPAST):c.1005-1G>T

SNV
Germline

Chr2:32116118

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499582

rs_1553315318

1 SubmittersRCV002000098

NM_014946.4(SPAST):c.1132C>G (p.Leu378Val)

SNV
Germline

Chr2:32126981

Likely pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346501260

rs_2148744957

2 SubmittersRCV002024525 RCV006437118

NM_015346.4(ZFYVE26):c.3256C>T (p.Gln1086Ter)

SNV
Germline

Chr14:67785906

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390172644

rs_2140227633

2 SubmittersRCV001866564 RCV005005309

NM_001244008.2(KIF1A):c.4905G>C (p.Glu1635Asp)

SNV
Germline

Chr2:240719890

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA351300885

rs_2125575383

2 SubmittersRCV001897526 RCV006663597

NM_014946.4(SPAST):c.488T>C (p.Ile163Thr)

SNV
Germline

Chr2:32087564

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1600591

rs_748674789

2 SubmittersRCV001997915 RCV004044515

NM_000533.5(PLP1):c.736G>A (p.Gly246Arg)

SNV
Germline

ChrX:103789372

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA414104638

rs_2147768028

2 SubmittersRCV002004142 RCV003161164

NM_001244008.2(KIF1A):c.1031C>T (p.Thr344Met)

SNV
Germline

Chr2:240774189

Pathogenic

Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA351296627

rs_2125976585

3 SubmittersRCV002286863 RCV002035472 RCV006367850

NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)

SNV
Germline

Chr2:240783764

Likely pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351303030

rs_1553638086

1 SubmittersRCV002009303

NM_001368809.2(AMPD2):c.1698+1G>A

SNV
Germline

Chr1:109629236

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA341559668

rs_1650988132

2 SubmittersRCV002040456 RCV006302552

NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)

SNV
Germline

Chr16:89550532

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397430845

rs_946925151

2 SubmittersRCV001942142

NM_014946.4(SPAST):c.1616+1G>A

SNV
Germline

Chr2:32143416

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346503865

rs_1553319327

2 SubmittersRCV001962918

NM_001199753.2(CPT1C):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr19:49705962

Pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

CA9582055

rs_780195851

1 SubmittersRCV001942228

NM_001244008.2(KIF1A):c.4334G>A (p.Arg1445His)

SNV
Germline

Chr2:240723543

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207414

rs_765877669

2 SubmittersRCV001895667 RCV004774500

NM_001166114.2(PNPLA6):c.1005+1G>T

SNV
Germline

Chr19:7541435

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403108514

rs_772913881

1 SubmittersRCV001986806

NM_000533.5(PLP1):c.4+1G>A

SNV
Germline

ChrX:103777000

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414101591

rs_2147752783

1 SubmittersRCV002049878

NM_025137.4(SPG11):c.5122-1G>A

SNV
Germline

Chr15:44584559

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392223258

rs_2140947703

1 SubmittersRCV002049962

NM_001166114.2(PNPLA6):c.2046C>A (p.Tyr682Ter)

SNV
Germline

Chr19:7550616

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403123787

rs_768438032

1 SubmittersRCV001906315

NM_025137.4(SPG11):c.3997A>T (p.Lys1333Ter)

SNV
Germline

Chr15:44598269

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392229672

rs_2140976871

1 SubmittersRCV001946942

NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter)

SNV
Germline

Chr1:113899961

Pathogenic

Hereditary spastic paraplegia 47
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1015940

rs_138335735

3 SubmittersRCV001951281 RCV002269382

NM_015915.5(ATL1):c.773A>T (p.His258Leu)

SNV
Germline

Chr14:50614422

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389671654

rs_119476048

1 SubmittersRCV001970209

NM_025137.4(SPG11):c.2678G>A (p.Trp893Ter)

SNV
Germline

Chr15:44620346

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392230874

rs_1555455266

1 SubmittersRCV001946848

NM_001166114.2(PNPLA6):c.1039G>A (p.Gly347Ser)

SNV
Germline

Chr19:7541555

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Inborn genetic diseases
Gastric cancer
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA9139660

rs_760573469

3 SubmittersRCV002016836 RCV004651908 RCV005925627 RCV005925626

NM_014946.4(SPAST):c.1260G>T (p.Glu420Asp)

SNV
Germline

Chr2:32136577

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501869

rs_1679543195

1 SubmittersRCV002050789

NM_001244008.2(KIF1A):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr2:240788053

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351309937

rs_1318848388

1 SubmittersRCV001925834

NM_001244008.2(KIF1A):c.4601C>T (p.Ser1534Leu)

SNV
Germline

Chr2:240722520

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207379

rs_371486580

2 SubmittersRCV001993478 RCV002307821

NM_001244008.2(KIF1A):c.1037+1G>C

SNV
Germline

Chr2:240774182

Likely pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351296585

rs_2125976529

1 SubmittersRCV001968688

NM_001244008.2(KIF1A):c.1578-2A>G

SNV
Germline

Chr2:240767023

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351328357

rs_2125925871

1 SubmittersRCV002049624

NM_015346.4(ZFYVE26):c.3853G>T (p.Glu1285Ter)

SNV
Germline

Chr14:67783299

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390171347

rs_2140223564

2 SubmittersRCV001946575 RCV006695069

NM_014946.4(SPAST):c.1494-2A>T

SNV
Germline

Chr2:32141902

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502807

rs_1218081251

2 SubmittersRCV001970051

NM_025137.4(SPG11):c.3140T>G (p.Leu1047Ter)

SNV
Germline

Chr15:44613435

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392228138

rs_2141010951

1 SubmittersRCV001946663

NM_000533.5(PLP1):c.453+1G>T

SNV
Germline

ChrX:103786727

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA334001176

rs_113345335

1 SubmittersRCV002003058

NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter)

SNV
Germline

Chr8:125075063

Pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Single Submitter

CA372194985

rs_377540152

1 SubmittersRCV002014065

NM_025137.4(SPG11):c.3184C>T (p.Gln1062Ter)

SNV
Germline

Chr15:44610947

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392227086

rs_370252831

1 SubmittersRCV001879364

NM_015915.5(ATL1):c.44C>T (p.Ser15Leu)

SNV
Germline

Chr14:50587840

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7180163

rs_772206990

2 SubmittersRCV001931650 RCV003365579

NM_014855.3(AP5Z1):c.49C>T (p.Gln17Ter)

SNV
Germline

Chr7:4781182

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA4137024

rs_765332596

1 SubmittersRCV001956257

NM_014844.5(TECPR2):c.728G>A (p.Trp243Ter)

SNV
Germline

Chr14:102425068

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391046939

rs_2139716064

1 SubmittersRCV001956288

NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter)

SNV
Germline

Chr15:44584282

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA392222628

rs_1287370710

3 SubmittersRCV001949477 RCV006713979

NM_015915.5(ATL1):c.482C>T (p.Ala161Val)

SNV
Germline

Chr14:50591599

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389667499

rs_2140205448

1 SubmittersRCV002030577

NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter)

SNV
Germline

Chr7:100106837

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Multiple Submitters
No Conflicts

CA4375065

rs_772119268

2 SubmittersRCV001971834

NM_014846.4(WASHC5):c.2505-1G>C

SNV
Germline

Chr8:125044699

Likely pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Single Submitter

CA185294189

rs_953586472

1 SubmittersRCV001952450

NM_025137.4(SPG11):c.3070A>T (p.Lys1024Ter)

SNV
Germline

Chr15:44613505

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392228686

rs_1157530441

1 SubmittersRCV001956077

NM_001244008.2(KIF1A):c.3374+2T>G

SNV
Germline

Chr2:240745736

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351317662

rs_2125791006

1 SubmittersRCV002026094

NM_001244008.2(KIF1A):c.3872G>A (p.Arg1291His)

SNV
Germline

Chr2:240740087

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207610

rs_201653410

3 SubmittersRCV001961724 RCV002352673 RCV003134306

NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr1:113901872

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

CA28972890

rs_1013939776

1 SubmittersRCV001953661

NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp)

SNV
Germline

Chr2:240789246

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351311686

rs_672601362

1 SubmittersRCV002046792

NM_014946.4(SPAST):c.1636G>C (p.Gly546Arg)

SNV
Germline

Chr2:32144956

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504192

rs_2148760843

1 SubmittersRCV001918295

NM_001244008.2(KIF1A):c.4874C>T (p.Pro1625Leu)

SNV
Germline

Chr2:240719921

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2207259

rs_567604039

2 SubmittersRCV002334858 RCV001937810

NM_014946.4(SPAST):c.37T>A (p.Ser13Thr)

SNV
Germline

Chr2:32063868

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1600460

rs_781222498

2 SubmittersRCV001903520 RCV002473320

NM_025137.4(SPG11):c.5867-1G>A

SNV
Germline

Chr15:44575042

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392219237

rs_1060501168

1 SubmittersRCV001963105

NM_000533.5(PLP1):c.205C>T (p.Gln69Ter)

SNV
Germline

ChrX:103786478

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA414102425

rs_2147764198

2 SubmittersRCV001963109

NM_025137.4(SPG11):c.50G>A (p.Trp17Ter)

SNV
Germline

Chr15:44663598

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392238875

rs_1339135039

1 SubmittersRCV001981585

NM_001244008.2(KIF1A):c.5143G>A (p.Val1715Met)

SNV
Germline

Chr2:240719077

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207166

rs_766569322

2 SubmittersRCV001992656 RCV004770305

NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)

SNV
Germline

Chr2:240783778

Likely pathogenic

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351303132

rs_762126771

1 SubmittersRCV002003472

NM_001244008.2(KIF1A):c.1844G>A (p.Arg615His)

SNV
Germline

Chr2:240763271

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2208265

rs_764578297

2 SubmittersRCV001907727 RCV002406952

NM_001244008.2(KIF1A):c.1670G>T (p.Arg557Met)

SNV
Germline

Chr2:240766929

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208321

rs_773904723

2 SubmittersRCV001973722 RCV003434376

NM_001244008.2(KIF1A):c.3386G>A (p.Arg1129His)

SNV
Germline

Chr2:240745506

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207817

rs_769283409

3 SubmittersRCV002010998 RCV002243507 RCV002458974

NM_014946.4(SPAST):c.514G>T (p.Glu172Ter)

SNV
Germline

Chr2:32089533

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346603448

rs_2148710558

1 SubmittersRCV001951595

NM_001244008.2(KIF1A):c.4205C>T (p.Ser1402Leu)

SNV
Germline

Chr2:240725322

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207467

rs_764487659

2 SubmittersRCV001876530 RCV002300602

NM_000533.5(PLP1):c.548C>A (p.Thr183Asn)

SNV
Germline

ChrX:103787892

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
See cases

Criteria Provided
Conflicting Classifications

CA414103876

rs_2147766068

2 SubmittersRCV001916524 RCV003156144

NM_000533.5(PLP1):c.634T>C (p.Trp212Arg)

SNV
Germline

ChrX:103788448

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Conflicting Classifications

CA414104236

rs_2147766937

4 SubmittersRCV001920240 RCV002284976 RCV005863564

NM_001244008.2(KIF1A):c.4613G>A (p.Arg1538His)

SNV
Germline

Chr2:240722508

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207375

rs_371195054

2 SubmittersRCV001876398 RCV002334741

NM_001244008.2(KIF1A):c.398C>T (p.Thr133Met)

SNV
Germline

Chr2:240787282

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA2208799

rs_548452545

2 SubmittersRCV002265046 RCV001940102

NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter)

SNV
Germline

Chr1:113902757

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

CA341691508

rs_2101044378

1 SubmittersRCV002052046

NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)

SNV
Germline

Chr16:89553060

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397432719

rs_769258044

6 SubmittersRCV002052061 RCV003329432 RCV004729059

NM_001368809.2(AMPD2):c.223-5C>A

SNV
Germline

Chr1:109625657

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63

Criteria Provided
Conflicting Classifications

CA992733

rs_764953041

2 SubmittersRCV003025498 RCV002183239

NM_003119.4(SPG7):c.2181+19G>A

SNV
Germline

Chr16:89554582

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8244572

rs_201539829

2 SubmittersRCV002115764 RCV002223340

NM_003119.4(SPG7):c.37C>G (p.Arg13Gly)

SNV
Germline

Chr16:89508454

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286519194

rs_923197967

2 SubmittersRCV002139937 RCV005742417

NM_001244008.2(KIF1A):c.2266-4A>C

SNV
Germline

Chr2:240760847

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2573135617

rs_760023084

2 SubmittersRCV002133952 RCV002443237

NM_001244008.2(KIF1A):c.3203-8C>T

SNV
Germline

Chr2:240745917

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207868

rs_778217414

2 SubmittersRCV002139171 RCV004546711

NM_001199753.2(CPT1C):c.1293G>A (p.Ala431=)

SNV
Germline

Chr19:49706363

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9582135

rs_150328622

2 SubmittersRCV002205466 RCV006696472

NM_003119.4(SPG7):c.697C>T (p.Leu233=)

SNV
Germline

Chr16:89526407

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA497175155

rs_751353500

2 SubmittersRCV002153985 RCV004774628

NM_001166114.2(PNPLA6):c.130C>T (p.Pro44Ser)

SNV
Germline

Chr19:7535918

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 39
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA304860199

rs_908461148

2 SubmittersRCV002120970 RCV003070588

NM_014855.3(AP5Z1):c.1707+8C>T

SNV
Germline

Chr7:4788959

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137979

rs_374691049

2 SubmittersRCV002224809 RCV003495261

NM_025137.4(SPG11):c.423C>T (p.Leu141=)

SNV
Germline

Chr15:44660451

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535853

rs_769960206

2 SubmittersRCV002223691 RCV003774672

NM_014946.4(SPAST):c.1005-2A>C

SNV
Germline

Chr2:32116117

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499572

rs_1553315316

1 SubmittersRCV002225158

NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln)

SNV
Germline

Chr12:57576300

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA385511267

rs_1360689553

2 SubmittersRCV002225252 RCV003089199

NM_014946.4(SPAST):c.1460A>G (p.Asn487Ser)

SNV
Germline

Chr2:32137155

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502477

rs_2148754345

2 SubmittersRCV002227414 RCV005626611

NM_002860.4(ALDH18A1):c.89-1G>C

SNV
Germline

Chr10:95643207

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 9A
Cutis laxa, autosomal dominant 3
ALDH18A1-related de Barsy syndrome
Autosomal recessive complex spastic paraplegia type 9B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA377708623

rs_2139642879

2 SubmittersRCV002227592 RCV006280934

NM_015915.5(ATL1):c.466A>C (p.Thr156Pro)

SNV
Germline

Chr14:50591583

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA389667405

rs_2140205433

2 SubmittersRCV002248974

NM_024306.5(FA2H):c.506+1G>C

SNV
Germline

Chr16:74727243

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA396769979

rs_753097023

2 SubmittersRCV002249972 RCV003094027

NM_001351169.2(NT5C2):c.1403T>C (p.Leu468Pro)

SNV
Germline

Chr10:103090657

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA377968905

rs_2134504868

1 SubmittersRCV002250161

NM_014946.4(SPAST):c.1259A>G (p.Glu420Gly)

SNV
Germline

Chr2:32136576

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501865

rs_2148753634

1 SubmittersRCV002246738

NM_183075.3(CYP2U1):c.1391C>G (p.Pro464Arg)

SNV
Germline

Chr4:107949452

Pathogenic

Hereditary spastic paraplegia 56

No Assertion Criteria Provided

CA357839260

rs_2126202736

1 SubmittersRCV002248350

NM_025137.4(SPG11):c.6478-2A>C

SNV
Germline

Chr15:44569507

Likely pathogenic

See cases
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392216143

rs_2082374687

2 SubmittersRCV002252820 RCV003495263

NM_001244008.2(KIF1A):c.4568C>T (p.Ser1523Phe)

SNV
Germline

Chr2:240722553

Conflicting classifications of pathogenicity

See cases
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351304087

rs_1157791693

2 SubmittersRCV002253173 RCV003774747

NM_001244008.2(KIF1A):c.4762A>G (p.Thr1588Ala)

SNV
Germline

Chr2:240721020

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351301994

rs_1280317566

2 SubmittersRCV002261728 RCV003101457

NM_001244008.2(KIF1A):c.4057C>T (p.Leu1353Phe)

SNV
Germline

Chr2:240726891

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA68141179

rs_865912479

2 SubmittersRCV002261729 RCV003095894

NM_014946.4(SPAST):c.1754T>C (p.Phe585Ser)

SNV
Germline

Chr2:32154399

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346505568

rs_2148769272

1 SubmittersRCV002262167

NM_014946.4(SPAST):c.97C>G (p.Pro33Ala)

SNV
Germline

Chr2:32063928

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346601353

rs_1403480959

2 SubmittersRCV002263201 RCV003633607

NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)

SNV
Germline

Chr15:50997783

Pathogenic

Hereditary spastic paraplegia 51

Criteria Provided
Single Submitter

CA392420772

rs_2064899680

1 SubmittersRCV002266440

NM_015214.3(DDHD2):c.1126-2A>G

SNV
Germline

Chr8:38247711

Likely pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

CA370686081

rs_2130822605

2 SubmittersRCV002266477

NM_015346.4(ZFYVE26):c.4846C>T (p.Gln1616Ter)

SNV
Germline

Chr14:67777687

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390168874

rs_2140214976

1 SubmittersRCV002272747

NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)

SNV
Germline

Chr16:89554543

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397434763

rs_2152412388

3 SubmittersRCV002273858

NM_001244008.2(KIF1A):c.301G>A (p.Ala101Thr)

SNV
Germline

Chr2:240788113

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351310270

rs_2126091792

2 SubmittersRCV002275762 RCV006558732

NM_183075.3(CYP2U1):c.769C>T (p.Arg257Ter)

SNV
Germline

Chr4:107945248

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 56

Criteria Provided
Conflicting Classifications

CA357836946

rs_1437641531

2 SubmittersRCV002276124 RCV003340470

NM_001122955.4(BSCL2):c.54C>A (p.Cys18Ter)

SNV
Germline

Chr11:62707142

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Congenital generalized lipodystrophy type 2
Hereditary spastic paraplegia 17

Criteria Provided
Conflicting Classifications

CA6053678

rs_761790583

3 SubmittersRCV002280038 RCV005239345 RCV005356079

NM_001371279.1(REEP1):c.124T>C (p.Trp42Arg)

SNV
Germline

Chr2:86264023

Pathogenic

Hereditary spastic paraplegia 31
Spinal muscular atrophy, distal, autosomal recessive, 6

No Assertion Criteria Provided

CA347720098

rs_2468890850

1 SubmittersRCV002280598 RCV002280599

NM_014946.4(SPAST):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr2:32089551

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346603486

rs_1677628649

1 SubmittersRCV002281036

NM_001244008.2(KIF1A):c.3919C>T (p.Pro1307Ser)

SNV
Germline

Chr2:240737151

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351312959

rs_1288347488

2 SubmittersRCV002283186 RCV003101622

NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)

SNV
Germline

Chr1:109627880

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA28695246

rs_150197784

3 SubmittersRCV002283614 RCV003774934 RCV006435269

NM_001166114.2(PNPLA6):c.2575C>T (p.Arg859Ter)

SNV
Germline

Chr19:7554664

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA9140154

rs_781417400

1 SubmittersRCV002283751

NM_003119.4(SPG7):c.2102A>C (p.His701Pro)

SNV
Germline

Chr16:89553959

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8244523

rs_372180825

4 SubmittersRCV002283905 RCV004999686

NM_024306.5(FA2H):c.674T>C (p.Leu225Pro)

SNV
Germline

Chr16:74719100

Pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA396769602

rs_2544316692

1 SubmittersRCV002284305

NM_014946.4(SPAST):c.918T>C (p.Thr306=)

SNV
Germline

Chr2:32115749

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA425445835

rs_2465838305

2 SubmittersRCV002285782 RCV006558755

NM_004984.4(KIF5A):c.217G>A (p.Asp73Asn)

SNV
Germline

Chr12:57563526

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385492999

rs_2540492992

1 SubmittersRCV002289201

NM_001351169.2(NT5C2):c.771+1G>A

SNV
Germline

Chr10:103097290

Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA5670969

rs_770036597

1 SubmittersRCV002289248

NM_004984.4(KIF5A):c.501+2T>C

SNV
Germline

Chr12:57564975

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385496283

rs_2540494895

1 SubmittersRCV002290043

NM_014946.4(SPAST):c.1303C>A (p.Pro435Thr)

SNV
Germline

Chr2:32136620

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA346502103

rs_1064796279

1 SubmittersRCV002290151

NM_183075.3(CYP2U1):c.640G>T (p.Gly214Ter)

SNV
Germline

Chr4:107945119

Likely pathogenic

Hereditary spastic paraplegia 56

Criteria Provided
Single Submitter

CA102867072

rs_539068584

1 SubmittersRCV002290222

NM_004984.4(KIF5A):c.129+1G>A

SNV
Germline

Chr12:57550401

Likely pathogenic

Hereditary spastic paraplegia 10

No Assertion Criteria Provided

CA385496456

rs_2540481495

1 SubmittersRCV002292695

NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)

SNV
Germline

Chr1:228175355

Conflicting classifications of pathogenicity

C1orf69/IBA57-related disorder
Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Conflicting Classifications

CA345116627

rs_2527921101

2 SubmittersRCV002302474 RCV003098020

NM_014846.4(WASHC5):c.1120C>T (p.Arg374Ter)

SNV
Germline

Chr8:125073183

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Incidental Discovery

Criteria Provided
Conflicting Classifications

CA4873932

rs_762363112

2 SubmittersRCV002308504 RCV005251005

NM_015346.4(ZFYVE26):c.1198G>T (p.Glu400Ter)

SNV
Unknown

Chr14:67805290

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390177185

rs_2502873811

1 SubmittersRCV002306458

NM_015346.4(ZFYVE26):c.1397T>A (p.Leu466Ter)

SNV
Unknown

Chr14:67804139

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390176734

rs_2502871382

1 SubmittersRCV002306583

NM_015346.4(ZFYVE26):c.2830C>T (p.Gln944Ter)

SNV
Germline

Chr14:67789524

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA390173581

rs_1406988642

2 SubmittersRCV002306676 RCV003588806

NM_015346.4(ZFYVE26):c.6219C>A (p.Cys2073Ter)

SNV
Unknown

Chr14:67762353

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390164197

rs_2503967649

1 SubmittersRCV002306690

NM_015346.4(ZFYVE26):c.4339A>T (p.Lys1447Ter)

SNV
Unknown

Chr14:67782813

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390170041

rs_2502804775

1 SubmittersRCV002306782

NM_015346.4(ZFYVE26):c.6736C>T (p.Gln2246Ter)

SNV
Unknown

Chr14:67755998

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390161441

rs_2503944266

1 SubmittersRCV002309540

NM_015346.4(ZFYVE26):c.1328C>A (p.Ser443Ter)

SNV
Unknown

Chr14:67804208

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390176881

rs_2502871648

1 SubmittersRCV002309627

NM_015346.4(ZFYVE26):c.2833G>T (p.Glu945Ter)

SNV
Unknown

Chr14:67789521

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390173574

rs_2502828771

1 SubmittersRCV002309643

NM_015346.4(ZFYVE26):c.5239C>T (p.Gln1747Ter)

SNV
Unknown

Chr14:67775097

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390167997

rs_2502779855

1 SubmittersRCV002309727

NM_015346.4(ZFYVE26):c.4540A>T (p.Lys1514Ter)

SNV
Unknown

Chr14:67781362

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390169587

rs_2502800676

1 SubmittersRCV002309745

NM_015346.4(ZFYVE26):c.2644C>T (p.Gln882Ter)

SNV
Unknown

Chr14:67790683

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390173987

rs_2502832661

1 SubmittersRCV002309786

NM_015346.4(ZFYVE26):c.3960C>A (p.Cys1320Ter)

SNV
Unknown

Chr14:67783192

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390171131

rs_1483134756

1 SubmittersRCV002309854

NM_015346.4(ZFYVE26):c.6790C>T (p.Gln2264Ter)

SNV
Unknown

Chr14:67755247

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390161129

rs_2503941771

1 SubmittersRCV002309873

NM_015346.4(ZFYVE26):c.4522A>T (p.Lys1508Ter)

SNV
Unknown

Chr14:67781380

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390169630

rs_2502800727

1 SubmittersRCV002309903

NM_015346.4(ZFYVE26):c.741C>A (p.Cys247Ter)

SNV
Unknown

Chr14:67807543

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390161102

rs_2502880316

1 SubmittersRCV002309971

NM_015346.4(ZFYVE26):c.6659T>A (p.Leu2220Ter)

SNV
Unknown

Chr14:67756075

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390161778

rs_2503944736

1 SubmittersRCV002309976

NM_015346.4(ZFYVE26):c.4308C>G (p.Tyr1436Ter)

SNV
Unknown

Chr14:67782844

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390170175

rs_369590424

1 SubmittersRCV002307973

NM_015346.4(ZFYVE26):c.2149G>T (p.Gly717Ter)

SNV
Unknown

Chr14:67798113

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390175062

rs_2502856041

1 SubmittersRCV002308152

NM_015346.4(ZFYVE26):c.5568C>A (p.Cys1856Ter)

SNV
Unknown

Chr14:67769647

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390167019

rs_772482784

1 SubmittersRCV002308188

NM_015346.4(ZFYVE26):c.4262T>A (p.Leu1421Ter)

SNV
Unknown

Chr14:67782890

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390170364

rs_2502805172

1 SubmittersRCV002308245

NM_015346.4(ZFYVE26):c.6331G>T (p.Glu2111Ter)

SNV
Unknown

Chr14:67762241

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390163765

rs_2503966833

1 SubmittersRCV002308311

NM_015346.4(ZFYVE26):c.5690C>A (p.Ser1897Ter)

SNV
Germline

Chr14:67767804

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA390166565

rs_752859634

2 SubmittersRCV002308347 RCV003750887

NM_015346.4(ZFYVE26):c.7270C>T (p.Gln2424Ter)

SNV
Germline

Chr14:67752445

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 15
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA390158431

rs_2503929243

2 SubmittersRCV002309079 RCV003750888

NM_015346.4(ZFYVE26):c.878C>A (p.Ser293Ter)

SNV
Unknown

Chr14:67807406

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390160541

rs_374866062

1 SubmittersRCV002309370

NM_015346.4(ZFYVE26):c.7031T>A (p.Leu2344Ter)

SNV
Unknown

Chr14:67754168

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390159853

rs_907417199

1 SubmittersRCV002309462

NM_015346.4(ZFYVE26):c.372T>A (p.Tyr124Ter)

SNV
Unknown

Chr14:67807912

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA7240804

rs_753857000

1 SubmittersRCV002309480

NM_015346.4(ZFYVE26):c.6692T>A (p.Leu2231Ter)

SNV
Unknown

Chr14:67756042

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390161639

rs_2038770461

1 SubmittersRCV002309511

NM_015346.4(ZFYVE26):c.6713T>A (p.Leu2238Ter)

SNV
Unknown

Chr14:67756021

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390161542

rs_2503944394

1 SubmittersRCV002309522

NM_015346.4(ZFYVE26):c.4122G>A (p.Trp1374Ter)

SNV
Unknown

Chr14:67783030

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390170800

rs_2502805771

1 SubmittersRCV002306942

NM_015346.4(ZFYVE26):c.1816G>T (p.Glu606Ter)

SNV
Unknown

Chr14:67798446

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390175799

rs_370565100

1 SubmittersRCV002306949

NM_015346.4(ZFYVE26):c.2619C>A (p.Tyr873Ter)

SNV
Unknown

Chr14:67790708

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390174045

rs_2502832749

1 SubmittersRCV002310088

NM_015346.4(ZFYVE26):c.253A>T (p.Lys85Ter)

SNV
Unknown

Chr14:67814006

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390163103

rs_2502893658

1 SubmittersRCV002310275

NM_015346.4(ZFYVE26):c.5179A>T (p.Lys1727Ter)

SNV
Unknown

Chr14:67775902

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390168141

rs_2502782078

1 SubmittersRCV002310277

NM_015346.4(ZFYVE26):c.3394C>T (p.Gln1132Ter)

SNV
Unknown

Chr14:67785188

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390172345

rs_2502814026

1 SubmittersRCV002310325

NM_015346.4(ZFYVE26):c.237G>A (p.Trp79Ter)

SNV
Unknown

Chr14:67814022

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390163201

rs_1399096076

1 SubmittersRCV002310339

NM_015346.4(ZFYVE26):c.4962T>A (p.Tyr1654Ter)

SNV
Unknown

Chr14:67777571

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390168625

rs_2502788913

1 SubmittersRCV002308444

NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)

SNV
Germline

Chr15:44651796

Pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392236478

rs_2505727696

2 SubmittersRCV002349008 RCV003120907

NM_001244008.2(KIF1A):c.3457G>A (p.Val1153Ile)

SNV
Germline

Chr2:240745435

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
not specified

Criteria Provided
Conflicting Classifications

CA2207809

rs_530210018

3 SubmittersRCV002320854 RCV003099240 RCV004782920

NM_025137.4(SPG11):c.3292-1G>C

SNV
Germline

Chr15:44608606

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA392225128

rs_201217015

2 SubmittersRCV002445828 RCV003600431

NM_001244008.2(KIF1A):c.4130A>G (p.Asn1377Ser)

SNV
Germline

Chr2:240725397

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207478

rs_765634975

4 SubmittersRCV002333063 RCV003102525 RCV004763375

NM_001244008.2(KIF1A):c.5129G>C (p.Ser1710Thr)

SNV
Germline

Chr2:240719091

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351298247

rs_777880479

3 SubmittersRCV002330765 RCV003775972 RCV005227621

NM_001244008.2(KIF1A):c.4744-6C>T

SNV
Germline

Chr2:240721044

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2580068043

rs_2536657694

2 SubmittersRCV002330605 RCV003775955

NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)

SNV
Germline

Chr2:240720999

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA2207298

rs_368692511

2 SubmittersRCV002330695 RCV003102630

NM_001244008.2(KIF1A):c.1234C>T (p.Pro412Ser)

SNV
Germline

Chr2:240771078

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208471

rs_763360043

3 SubmittersRCV002364642 RCV003098434 RCV004793794

NM_025137.4(SPG11):c.7152-2A>G

SNV
Germline

Chr15:44563303

Pathogenic/Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392211955

rs_1331584604

2 SubmittersRCV002367548 RCV003098482

NM_001253852.3(AP4B1):c.1571T>C (p.Val524Ala)

SNV
Germline

Chr1:113895978

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA341709316

rs_2526495275

2 SubmittersRCV002405665 RCV005008571

NM_025137.4(SPG11):c.1892-6C>T

SNV
Germline

Chr15:44628850

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA617674705

rs_1322622893

2 SubmittersRCV002408044 RCV003097330

NM_001244008.2(KIF1A):c.1826C>T (p.Ala609Val)

SNV
Germline

Chr2:240763289

Conflicting classifications of pathogenicity

Inborn genetic diseases
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA2208266

rs_751922417

2 SubmittersRCV002410443 RCV003097278

NM_025137.4(SPG11):c.2626A>G (p.Lys876Glu)

SNV
Germline

Chr15:44620398

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535171

rs_565512325

2 SubmittersRCV002426434 RCV003495305

NM_001244008.2(KIF1A):c.2089G>A (p.Glu697Lys)

SNV
Germline

Chr2:240762746

Conflicting classifications of pathogenicity

Inborn genetic diseases
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Conflicting Classifications

CA2208203

rs_752556549

2 SubmittersRCV002423999 RCV003101048

NM_025137.4(SPG11):c.1008-5T>A

SNV
Germline

Chr15:44651944

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA2173732042

rs_759451349

2 SubmittersRCV002446325 RCV006471203

NM_025137.4(SPG11):c.1008-5T>G

SNV
Germline

Chr15:44651944

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7535635

rs_759451349

2 SubmittersRCV002428489 RCV003495304

NM_001244008.2(KIF1A):c.2949C>A (p.Phe983Leu)

SNV
Germline

Chr2:240750457

Conflicting classifications of pathogenicity

Inborn genetic diseases
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207977

rs_375672100

3 SubmittersRCV002440250 RCV003775422 RCV004534103

NM_020944.3(GBA2):c.2506-2A>G

SNV
Unknown

Chr9:35737449

Likely pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

CA373402009

rs_2490823676

1 SubmittersRCV002465072

NM_001244008.2(KIF1A):c.806C>A (p.Ala269Asp)

SNV
Germline

Chr2:240783102

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351302683

rs_1469297168

1 SubmittersRCV002466344

NM_024306.5(FA2H):c.786G>A (p.Lys262=)

SNV
Germline

Chr16:74718988

Pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA496546791

rs_2544316320

1 SubmittersRCV002468706

NM_001371279.1(REEP1):c.377T>A (p.Leu126Ter)

SNV
Germline

Chr2:86251997

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347716004

rs_2468826608

1 SubmittersRCV002468772

NM_025137.4(SPG11):c.6755-1G>A

SNV
Germline

Chr15:44566306

Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392213976

rs_2505177370

2 SubmittersRCV002470132 RCV005098448

NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)

SNV
Germline

Chr15:44573548

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA490329305

rs_2082470151

3 SubmittersRCV002471726 RCV005008596

NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)

SNV
Germline

Chr15:44622220

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392231811

rs_312262742

2 SubmittersRCV002471780

NM_014946.4(SPAST):c.1550T>G (p.Leu517Trp)

SNV
Germline

Chr2:32143349

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346503640

rs_2148759388

1 SubmittersRCV002470180

NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val)

SNV
Germline

Chr8:17286390

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 53
not specified
Colon adenocarcinoma
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA4643635

rs_755402438

4 SubmittersRCV002470312 RCV004067600 RCV005931981 RCV005931982

NM_014946.4(SPAST):c.1642G>C (p.Asp548His)

SNV
Germline

Chr2:32144962

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504205

rs_1553319532

1 SubmittersRCV002470498

NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)

SNV
Germline

Chr14:50591575

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389667364

rs_2504493603

2 SubmittersRCV002470667

NM_003119.4(SPG7):c.1248G>A (p.Lys416=)

SNV
Germline

Chr16:89532560

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244009

rs_769916719

2 SubmittersRCV002474274 RCV002574692

NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)

SNV
Germline

Chr16:89556951

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8244631

rs_753956374

4 SubmittersRCV002474277 RCV003491120 RCV005008599

NM_014946.4(SPAST):c.1414-2A>G

SNV
Germline

Chr2:32137107

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346502374

rs_1553318304

2 SubmittersRCV002474430 RCV003235729

NM_014946.4(SPAST):c.1536+2T>C

SNV
Germline

Chr2:32141948

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346503036

rs_1553319096

3 SubmittersRCV002474431 RCV003523137

NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)

SNV
Germline

Chr2:32114825

Pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346498938

rs_1421791559

3 SubmittersRCV002474432 RCV003775539

NM_014946.4(SPAST):c.55C>G (p.Pro19Ala)

SNV
Germline

Chr2:32063886

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346601276

rs_372349942

1 SubmittersRCV004798943

NM_001244008.2(KIF1A):c.2935G>A (p.Glu979Lys)

SNV
Germline

Chr2:240750471

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA2207979

rs_764324827

3 SubmittersRCV003052857 RCV004632160 RCV006460395

NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)

SNV
Germline

Chr7:100105068

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

CA163217948

rs_372641895

1 SubmittersRCV003062717

NM_025137.4(SPG11):c.5014G>T (p.Glu1672Ter)

SNV
Germline

Chr15:44585743

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392223498

rs_2505301578

2 SubmittersRCV003041225 RCV004719290

NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr1:113897902

Pathogenic

Hereditary spastic paraplegia 47
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1015847

rs_755756363

3 SubmittersRCV003068427 RCV004725500

NM_001368809.2(AMPD2):c.-45C>T

SNV
Germline

Chr1:109621131

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA28686341

rs_1030974786

2 SubmittersRCV003068942 RCV004071618

NM_000533.5(PLP1):c.670C>T (p.Leu224Phe)

SNV
Germline

ChrX:103788484

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414104367

rs_2074517785

1 SubmittersRCV003050641

NM_000533.5(PLP1):c.674T>C (p.Leu225Pro)

SNV
Germline

ChrX:103788488

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Condition: not provided
Pelizaeus-Merzbacher disease

Criteria Provided
Conflicting Classifications

CA414104379

rs_2522318249

3 SubmittersRCV003066357 RCV004784090 RCV006705768

NM_000533.5(PLP1):c.697-1G>A

SNV
Germline

ChrX:103789332

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414104495

rs_2522322595

1 SubmittersRCV003066358

NM_001351169.2(NT5C2):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr10:103099964

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA5671043

rs_768651632

1 SubmittersRCV003060864

NM_014855.3(AP5Z1):c.67A>T (p.Lys23Ter)

SNV
Germline

Chr7:4781200

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA366673098

rs_1198188652

1 SubmittersRCV003083686

NM_001166114.2(PNPLA6):c.2936+2T>C

SNV
Germline

Chr19:7555369

Likely pathogenic

Hereditary spastic paraplegia 39
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA403131056

rs_1382898672

2 SubmittersRCV003073019 RCV003491234

NM_001776.6(ENTPD1):c.740A>G (p.Asn247Ser)

SNV
Germline

Chr10:95845523

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5621457

rs_780312005

2 SubmittersRCV003067591 RCV005552869

NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu)

SNV
Germline

Chr2:32144954

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346504190

rs_869312949

3 SubmittersRCV003079023

NM_015915.5(ATL1):c.70G>C (p.Glu24Gln)

SNV
Germline

Chr14:50587866

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA7180168

rs_763169900

2 SubmittersRCV003079043 RCV003079042

NM_001160148.2(DDHD1):c.1729C>T (p.Arg577Ter)

SNV
Germline

Chr14:53062980

Pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

CA7191173

rs_776191400

1 SubmittersRCV003069963

NM_001244008.2(KIF1A):c.1769-5C>T

SNV
Germline

Chr2:240763351

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1339272933

rs_2050761292

2 SubmittersRCV002602410 RCV006363189

NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter)

SNV
Germline

Chr1:228165959

Pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Single Submitter

CA345105090

rs_1419333963

1 SubmittersRCV002623548

NM_001166114.2(PNPLA6):c.2184+2T>G

SNV
Germline

Chr19:7551109

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403124886

rs_2023624083

1 SubmittersRCV002599437

NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln)

SNV
Germline

Chr14:50628395

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA260794943

rs_985551666

2 SubmittersRCV002599329 RCV005098907

NM_001199753.2(CPT1C):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr19:49701593

Pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

CA406900753

rs_2514088767

1 SubmittersRCV002612089

NM_014844.5(TECPR2):c.220-2A>G

SNV
Germline

Chr14:102407336

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA7357393

rs_761285440

1 SubmittersRCV002632270

NM_014946.4(SPAST):c.1494-16G>A

SNV
Germline

Chr2:32141888

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA2580066373

rs_779643000

1 SubmittersRCV002625104

NM_014946.4(SPAST):c.1245+1G>C

SNV
Germline

Chr2:32128480

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501520

rs_875989878

1 SubmittersRCV002664229

NM_014946.4(SPAST):c.1300C>T (p.Gln434Ter)

SNV
Germline

Chr2:32136617

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502097

rs_2465883152

1 SubmittersRCV002634366

NM_014946.4(SPAST):c.1372A>C (p.Ser458Arg)

SNV
Germline

Chr2:32136927

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502274

rs_2465884153

1 SubmittersRCV002634367

NM_014946.4(SPAST):c.1379G>T (p.Arg460Leu)

SNV
Germline

Chr2:32136934

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502292

rs_1553318241

1 SubmittersRCV002651452

NM_014946.4(SPAST):c.1536+1G>A

SNV
Germline

Chr2:32141947

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346503025

rs_1553319095

1 SubmittersRCV002651453

NM_015214.3(DDHD2):c.815G>A (p.Trp272Ter)

SNV
Germline

Chr8:38242352

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

CA370718486

rs_1805323000

1 SubmittersRCV002630027

NM_014844.5(TECPR2):c.2934C>T (p.Ser978=)

SNV
Germline

Chr14:102445806

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7358099

rs_766701687

2 SubmittersRCV002654782 RCV005752192

NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)

SNV
Germline

Chr15:44629299

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA392234603

rs_2505601687

2 SubmittersRCV002510280 RCV003600442

NM_004722.4(AP4M1):c.930-1G>C

SNV
Germline

Chr7:100105958

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Multiple Submitters
No Conflicts

CA163219029

rs_973744863

2 SubmittersRCV003110761

NM_014946.4(SPAST):c.662G>A (p.Arg221His)

SNV
Germline

Chr2:32098871

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4
not specified

Criteria Provided
Conflicting Classifications

CA1600670

rs_765786158

2 SubmittersRCV003114933 RCV005434079

NM_025137.4(SPG11):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr15:44663512

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA270113784

rs_1038146319

1 SubmittersRCV003112105

NM_001371279.1(REEP1):c.33-8C>A

SNV
Germline

Chr2:86282250

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1748853

rs_766647344

2 SubmittersRCV003110505 RCV006733544

NM_006070.6(TFG):c.968A>G (p.Asn323Ser)

SNV
Germline

Chr3:100748296

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2517235

rs_778132572

2 SubmittersRCV002578131 RCV004965927

NM_014946.4(SPAST):c.73C>G (p.Pro25Ala)

SNV
Germline

Chr2:32063904

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346601307

rs_758920536

2 SubmittersRCV002577228 RCV002577227

NM_001244008.2(KIF1A):c.4141C>A (p.Pro1381Thr)

SNV
Germline

Chr2:240725386

Conflicting classifications of pathogenicity

Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351308275

rs_1267604574

2 SubmittersRCV002573071 RCV005862538

NM_014844.5(TECPR2):c.3918G>A (p.Trp1306Ter)

SNV
Germline

Chr14:102497107

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391057870

rs_1891304213

1 SubmittersRCV002614136

NM_014844.5(TECPR2):c.1418-2A>G

SNV
Germline

Chr14:102434233

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

CA391058304

rs_1889591634

2 SubmittersRCV002662675

NM_001244008.2(KIF1A):c.2582+6C>T

SNV
Germline

Chr2:240758354

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2208068

rs_553584258

2 SubmittersRCV002650546 RCV006449012

NM_014855.3(AP5Z1):c.970-1G>A

SNV
Germline

Chr7:4785521

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA366661180

rs_1364005933

1 SubmittersRCV002654326

NM_001244008.2(KIF1A):c.3391G>A (p.Asp1131Asn)

SNV
Germline

Chr2:240745501

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A related neurological disorder

Criteria Provided
Conflicting Classifications

CA351317551

rs_2537277627

2 SubmittersRCV002653349 RCV006249830

NM_001244008.2(KIF1A):c.5014C>T (p.Arg1672Ter)

SNV
Germline

Chr2:240719781

Pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351299858

rs_2045066309

1 SubmittersRCV002627731

NM_001244008.2(KIF1A):c.1658G>A (p.Arg553Gln)

SNV
Germline

Chr2:240766941

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA351328045

rs_1167604511

2 SubmittersRCV002642902 RCV002653448

NM_001244008.2(KIF1A):c.4207C>T (p.Arg1403Cys)

SNV
Germline

Chr2:240725320

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351307105

rs_1261842321

3 SubmittersRCV002675513 RCV003151901

NM_001244008.2(KIF1A):c.3465+1G>A

SNV
Germline

Chr2:240745426

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA2207807

rs_113158271

1 SubmittersRCV002720108

NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)

SNV
Germline

Chr2:32116146

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346499656

rs_2465839683

2 SubmittersRCV002690733 RCV002690734

NM_001166114.2(PNPLA6):c.413+1G>A

SNV
Germline

Chr19:7536547

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403099295

rs_2512488638

1 SubmittersRCV002720370

NM_001010867.4(IBA57):c.342G>C (p.Gly114=)

SNV
Germline

Chr1:228174692

Conflicting classifications of pathogenicity

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1431131

rs_771929217

2 SubmittersRCV002717290 RCV004632058

NM_001166114.2(PNPLA6):c.3851T>A (p.Leu1284Ter)

SNV
Germline

Chr19:7561048

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403138434

rs_2024078763

1 SubmittersRCV002755664

NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly)

SNV
Germline

Chr8:64615753

Conflicting classifications of pathogenicity

Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3

Criteria Provided
Conflicting Classifications

CA371334967

rs_1265090791

3 SubmittersRCV002780414 RCV003269278 RCV005044972

NM_006070.6(TFG):c.325C>T (p.Leu109=)

SNV
Germline

Chr3:100728768

Conflicting classifications of pathogenicity

Hereditary motor and sensory neuropathy, Okinawa type
Hereditary spastic paraplegia 57
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2517052

rs_759168672

2 SubmittersRCV002786148 RCV003222444

NM_014846.4(WASHC5):c.186+1G>C

SNV
Germline

Chr8:125083712

Likely pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Single Submitter

CA4874202

rs_758391206

1 SubmittersRCV002800511

NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)

SNV
Germline

Chr2:240788148

Likely pathogenic

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C

Criteria Provided
Single Submitter

CA351310480

rs_2538437589

1 SubmittersRCV002805730

NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)

SNV
Germline

Chr2:240797674

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA351315653

rs_2056552812

3 SubmittersRCV002774998 RCV004763457 RCV005370290

NM_014946.4(SPAST):c.1508G>A (p.Arg503Gln)

SNV
Germline

Chr2:32141918

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346502866

rs_1553319087

2 SubmittersRCV002814347

NM_015915.5(ATL1):c.584A>C (p.Glu195Ala)

SNV
Germline

Chr14:50595586

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389668842

rs_2504503924

1 SubmittersRCV002807138

NM_000533.5(PLP1):c.5-1G>A

SNV
Germline

ChrX:103785581

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414101717

rs_2522300691

1 SubmittersRCV002820107

NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser)

SNV
Germline

Chr2:240774259

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351297017

rs_2537958110

2 SubmittersRCV002837480 RCV003886585

NM_014946.4(SPAST):c.1525C>T (p.Pro509Ser)

SNV
Germline

Chr2:32141935

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 4
SPAST-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA346502953

rs_1553319092

3 SubmittersRCV002810084 RCV004753582

NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr1:109625758

Pathogenic

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9

Criteria Provided
Single Submitter

CA341554493

rs_2524398223

1 SubmittersRCV002820600

NM_014946.4(SPAST):c.415+1G>C

SNV
Germline

Chr2:32064247

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346602524

rs_1057521135

2 SubmittersRCV002839415 RCV004790252

NM_000533.5(PLP1):c.553C>T (p.Gln185Ter)

SNV
Germline

ChrX:103787897

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414103896

rs_1467533825

1 SubmittersRCV002839494

NM_014946.4(SPAST):c.1096G>T (p.Glu366Ter)

SNV
Germline

Chr2:32116210

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499882

rs_1553315356

1 SubmittersRCV002837782

NM_001371279.1(REEP1):c.418-2A>C

SNV
Germline

Chr2:86232804

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347547778

rs_2468710100

1 SubmittersRCV002816551

NM_025137.4(SPG11):c.1580C>G (p.Ser527Ter)

SNV
Germline

Chr15:44648888

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392235504

rs_1440947266

1 SubmittersRCV002861686

NM_001160148.2(DDHD1):c.1371G>A (p.Trp457Ter)

SNV
Germline

Chr14:53073766

Pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

CA389764672

rs_2503144489

1 SubmittersRCV002846179

NM_001351169.2(NT5C2):c.675T>G (p.Tyr225Ter)

SNV
Germline

Chr10:103098943

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

CA377975597

rs_2494459588

1 SubmittersRCV002838278

NM_014844.5(TECPR2):c.3106C>T (p.Gln1036Ter)

SNV
Germline

Chr14:102449659

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391067932

rs_2504453043

1 SubmittersRCV002830080

NM_014946.4(SPAST):c.1646T>A (p.Leu549Gln)

SNV
Germline

Chr2:32144966

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504214

rs_1553319534

1 SubmittersRCV002857449

NM_015214.3(DDHD2):c.1617+1G>T

SNV
Germline

Chr8:38252288

Likely pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

CA370693464

rs_377024163

1 SubmittersRCV002880609

NM_025137.4(SPG11):c.1261C>T (p.Gln421Ter)

SNV
Germline

Chr15:44651686

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392236227

rs_2505726481

1 SubmittersRCV002876892

NM_001166114.2(PNPLA6):c.2260+1G>C

SNV
Germline

Chr19:7551438

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403125378

rs_2512539283

1 SubmittersRCV002857996

NM_014946.4(SPAST):c.237C>A (p.Cys79Ter)

SNV
Germline

Chr2:32064068

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346601847

rs_2465681573

1 SubmittersRCV002871697

NM_001199753.2(CPT1C):c.2019+1G>C

SNV
Germline

Chr19:49711962

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

CA406909186

rs_1186386364

1 SubmittersRCV002876785

NM_015915.5(ATL1):c.1214T>G (p.Val405Gly)

SNV
Germline

Chr14:50628125

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389675762

rs_2504577269

1 SubmittersRCV002862650

NM_025137.4(SPG11):c.667+1G>A

SNV
Germline

Chr15:44659078

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392237562

rs_1435037360

1 SubmittersRCV002852951

NM_001371279.1(REEP1):c.304-1G>C

SNV
Germline

Chr2:86252071

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347716604

rs_2104225081

1 SubmittersRCV002894864

NM_015346.4(ZFYVE26):c.6424C>T (p.Gln2142Ter)

SNV
Germline

Chr14:67761530

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA390163382

rs_1239601514

2 SubmittersRCV002890410 RCV004017951

NM_001244008.2(KIF1A):c.4208G>T (p.Arg1403Leu)

SNV
Germline

Chr2:240725319

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
KIF1A-related disorder

Criteria Provided
Conflicting Classifications

CA2207464

rs_537708830

2 SubmittersRCV002886088 RCV004529179

NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)

SNV
Germline

Chr2:240783773

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30

Criteria Provided
Multiple Submitters
No Conflicts

CA351303108

rs_387906798

2 SubmittersRCV002877610 RCV003320393

NM_014946.4(SPAST):c.1112T>C (p.Leu371Pro)

SNV
Germline

Chr2:32126961

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501220

rs_1553316806

1 SubmittersRCV002926582

NM_015915.5(ATL1):c.1101C>A (p.Tyr367Ter)

SNV
Germline

Chr14:50623230

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389674231

rs_2504564383

1 SubmittersRCV002882206

NM_014946.4(SPAST):c.1849T>C (p.Ter617Gln)

SNV
Germline

Chr2:32154494

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346505783

rs_1553321270

1 SubmittersRCV002913431

NM_014844.5(TECPR2):c.2224C>T (p.Gln742Ter)

SNV
Germline

Chr14:102435041

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391062700

rs_1377993607

1 SubmittersRCV002908853

NM_000533.5(PLP1):c.435G>A (p.Trp145Ter)

SNV
Germline

ChrX:103786708

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414102937

rs_2522308589

1 SubmittersRCV002913146

NM_014846.4(WASHC5):c.740G>A (p.Arg247His)

SNV
Germline

Chr8:125076472

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA185322520

rs_976509563

2 SubmittersRCV002941913 RCV003138402

NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)

SNV
Germline

Chr2:240719828

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Inborn genetic diseases
KIF1A-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351300366

rs_1250002854

4 SubmittersRCV002932952 RCV002932953 RCV004529182 RCV003222449

NM_000533.5(PLP1):c.578C>A (p.Thr193Asn)

SNV
Germline

ChrX:103787922

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA414103995

rs_1364496996

3 SubmittersRCV002914944 RCV003134549 RCV004958855

NM_000533.5(PLP1):c.180T>G (p.Tyr60Ter)

SNV
Germline

ChrX:103785757

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414102360

rs_2522301939

1 SubmittersRCV002922866

NM_001244008.2(KIF1A):c.4495C>T (p.Arg1499Trp)

SNV
Germline

Chr2:240722626

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2207400

rs_369675421

2 SubmittersRCV002914892 RCV005001331

NM_015214.3(DDHD2):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr8:38233190

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

CA370710924

rs_2486749357

1 SubmittersRCV002966357

NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)

SNV
Germline

Chr1:113900208

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 47

Criteria Provided
Conflicting Classifications

CA1016009

rs_140699721

2 SubmittersRCV002962615

NM_001244008.2(KIF1A):c.2509G>A (p.Glu837Lys)

SNV
Germline

Chr2:240758433

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA68170643

rs_908976259

2 SubmittersRCV002942897 RCV005414652

NM_014844.5(TECPR2):c.2513C>T (p.Pro838Leu)

SNV
Germline

Chr14:102438140

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 49
not specified

Criteria Provided
Conflicting Classifications

CA7357944

rs_147312456

2 SubmittersRCV002949376 RCV005239570

NM_001166114.2(PNPLA6):c.1968C>A (p.Cys656Ter)

SNV
Germline

Chr19:7550538

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403123269

rs_2512534808

1 SubmittersRCV002953767

NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter)

SNV
Germline

Chr1:228174804

Pathogenic

Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Single Submitter

CA345112487

rs_2124976652

1 SubmittersRCV002957904

NM_015346.4(ZFYVE26):c.668G>A (p.Arg223Gln)

SNV
Germline

Chr14:67807616

Conflicting classifications of pathogenicity

Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 15

Criteria Provided
Conflicting Classifications

CA7240740

rs_780808580

3 SubmittersRCV002957939 RCV005522745 RCV005636648

NM_001199753.2(CPT1C):c.1669C>T (p.Arg557Ter)

SNV
Germline

Chr19:49710422

Pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

CA309517406

rs_748659009

1 SubmittersRCV003005274

NM_014855.3(AP5Z1):c.416C>T (p.Ala139Val)

SNV
Germline

Chr7:4783365

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 48

Criteria Provided
Conflicting Classifications

CA4137204

rs_376916591

2 SubmittersRCV002962979 RCV002962978

NM_004722.4(AP4M1):c.750C>A (p.Val250=)

SNV
Germline

Chr7:100105262

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 50
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4374788

rs_752745814

2 SubmittersRCV002979246 RCV003234215

NM_001244008.2(KIF1A):c.3784A>G (p.Met1262Val)

SNV
Germline

Chr2:240740330

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
not specified

Criteria Provided
Conflicting Classifications

CA351314853

rs_1399575811

2 SubmittersRCV002994944 RCV006687503

NM_001776.6(ENTPD1):c.871G>A (p.Val291Met)

SNV
Germline

Chr10:95847503

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 64
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5621493

rs_766776589

2 SubmittersRCV002996108 RCV005834382

NM_015346.4(ZFYVE26):c.4061G>A (p.Arg1354Gln)

SNV
Germline

Chr14:67783091

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 15
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7239845

rs_779264975

4 SubmittersRCV002976104 RCV003138421 RCV004790295 RCV004963313

NM_001244008.2(KIF1A):c.751G>A (p.Gly251Arg)

SNV
Germline

Chr2:240783786

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351303208

rs_2538277599

1 SubmittersRCV003030819

NM_001166114.2(PNPLA6):c.811C>T (p.Gln271Ter)

SNV
Germline

Chr19:7540938

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403106036

rs_2512500691

1 SubmittersRCV003021714

NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)

SNV
Germline

Chr15:44596178

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA392227662

rs_2505369754

2 SubmittersRCV003025690 RCV005010870

NM_014946.4(SPAST):c.1632C>A (p.Tyr544Ter)

SNV
Germline

Chr2:32144952

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504185

rs_2465908146

1 SubmittersRCV003019259

NM_014844.5(TECPR2):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr14:102432071

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391055921

rs_2504418131

1 SubmittersRCV003013677

NM_014844.5(TECPR2):c.3565C>T (p.Gln1189Ter)

SNV
Germline

Chr14:102452552

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

CA391068941

rs_2504459163

2 SubmittersRCV003038747

NM_001371279.1(REEP1):c.32+2T>C

SNV
Germline

Chr2:86337477

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347725416

rs_2469203256

1 SubmittersRCV003026323

NM_001244008.2(KIF1A):c.5249G>A (p.Arg1750His)

SNV
Germline

Chr2:240718134

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2207125

rs_370886411

2 SubmittersRCV003038402 RCV004068643

NM_014844.5(TECPR2):c.3075+2T>C

SNV
Germline

Chr14:102445949

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391067855

rs_2504446543

1 SubmittersRCV003037543

NM_025137.4(SPG11):c.3036C>G (p.Tyr1012Ter)

SNV
Germline

Chr15:44615365

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392229011

rs_2083566245

1 SubmittersRCV003034495

NM_000533.5(PLP1):c.378C>T (p.Ser126=)

SNV
Germline

ChrX:103786651

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Conflicting Classifications

CA518092131

rs_2522307983

2 SubmittersRCV003024891 RCV004595681

NM_014946.4(SPAST):c.1099-1G>C

SNV
Germline

Chr2:32126947

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501188

rs_2148744884

1 SubmittersRCV003039381

NM_025137.4(SPG11):c.4198C>T (p.Gln1400Ter)

SNV
Germline

Chr15:44596319

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392228515

rs_1482197593

1 SubmittersRCV003043855

NM_001776.6(ENTPD1):c.1020C>G (p.Tyr340Ter)

SNV
Germline

Chr10:95847652

Pathogenic

Hereditary spastic paraplegia 64

Criteria Provided
Single Submitter

CA5621516

rs_149326648

1 SubmittersRCV003040506

NM_001166114.2(PNPLA6):c.2185-6C>T

SNV
Germline

Chr19:7551356

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

CA9140028

rs_564496088

2 SubmittersRCV002722601 RCV003618043

NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)

SNV
Germline

Chr8:125043839

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ritscher-Schinzel syndrome 1
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Conflicting Classifications

CA4873423

rs_534139966

3 SubmittersRCV002717562 RCV004725580 RCV005227823

NM_000533.5(PLP1):c.409C>G (p.Arg137Gly)

SNV
Germline

ChrX:103786682

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA414102877

rs_132630295

4 SubmittersRCV002702897 RCV004595687 RCV005099572 RCV006560831

NM_014855.3(AP5Z1):c.1707+1G>A

SNV
Germline

Chr7:4788952

Likely pathogenic

Inborn genetic diseases
Hereditary spastic paraplegia 48

Criteria Provided
Multiple Submitters
No Conflicts

CA4137977

rs_779269348

2 SubmittersRCV002845649 RCV003598146

NM_014946.4(SPAST):c.722A>G (p.His241Arg)

SNV
Germline

Chr2:32114677

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346498377

rs_1162493574

2 SubmittersRCV002924878 RCV003523144

NM_004820.5(CYP7B1):c.1162C>G (p.Arg388Gly)

SNV
Germline

Chr8:64604753

Likely pathogenic

Hereditary spastic paraplegia 5A

Criteria Provided
Single Submitter

CA371334137

rs_72554620

1 SubmittersRCV003120382

NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)

SNV
Germline

Chr4:107949416

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 56
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA3037187

rs_775157727

4 SubmittersRCV003128218 RCV005099273

NM_004722.4(AP4M1):c.1138-1G>A

SNV
Germline

Chr7:100106657

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

CA368476095

rs_2546963463

1 SubmittersRCV003140480

NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)

SNV
Germline

Chr10:95637363

Likely pathogenic

Cutis laxa, autosomal dominant 3
Autosomal recessive complex spastic paraplegia type 9B
Cutis laxa, autosomal dominant 3
Hereditary spastic paraplegia 9A
ALDH18A1-related de Barsy syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377706756

rs_2526899878

3 SubmittersRCV003142512 RCV005255754

NM_001244008.2(KIF1A):c.739G>A (p.Val247Met)

SNV
Germline

Chr2:240783798

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30

Criteria Provided
Conflicting Classifications

CA351303329

rs_2538278006

3 SubmittersRCV003133875 RCV004765757

NM_014946.4(SPAST):c.1196C>A (p.Ser399Ter)

SNV
Germline

Chr2:32128430

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501408

rs_1553317025

1 SubmittersRCV003131572

NM_020944.3(GBA2):c.2608C>T (p.Arg870Ter)

SNV
Germline

Chr9:35737345

Likely pathogenic

Hereditary spastic paraplegia 46
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA373401121

rs_1347178549

3 SubmittersRCV003145809 RCV005429426

NM_005619.5(RTN2):c.198C>A (p.Tyr66Ter)

SNV
Germline

Chr19:45494887

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA406362609

rs_2513743882

3 SubmittersRCV003148502 RCV004763604

NM_003119.4(SPG7):c.1923C>T (p.Asn641=)

SNV
Germline

Chr16:89553122

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA397432903

rs_1482532650

2 SubmittersRCV003151701

NM_001776.6(ENTPD1):c.1109T>A (p.Leu370Ter)

SNV
Germline

Chr10:95860503

Pathogenic

Hereditary spastic paraplegia 64

Criteria Provided
Single Submitter

CA377824171

rs_1309641888

2 SubmittersRCV003152399

NM_001244008.2(KIF1A):c.630G>A (p.Met210Ile)

SNV
Unknown

Chr2:240785079

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351304903

rs_2538309429

1 SubmittersRCV003152912

NM_001244008.2(KIF1A):c.302C>T (p.Ala101Val)

SNV
Unknown

Chr2:240788112

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351310258

rs_2126091776

1 SubmittersRCV003153103

NM_015915.5(ATL1):c.1041G>T (p.Met347Ile)

SNV
Unknown

Chr14:50621893

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389673665

rs_1555365512

1 SubmittersRCV003153130

NM_003119.4(SPG7):c.861+8C>G

SNV
Germline

Chr16:89529587

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243803

rs_375603789

2 SubmittersRCV003222889 RCV006630922

NM_183075.3(CYP2U1):c.533G>C (p.Arg178Thr)

SNV
Germline

Chr4:107945012

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 56

Criteria Provided
Conflicting Classifications

CA357836376

rs_1183645965

2 SubmittersRCV003388181

NM_024306.5(FA2H):c.785A>C (p.Lys262Thr)

SNV
Germline

Chr16:74718989

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA8170411

rs_555874983

1 SubmittersRCV003388183

NM_004984.4(KIF5A):c.737G>T (p.Gly246Val)

SNV
Germline

Chr12:57568985

Pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385499901

rs_2540499310

1 SubmittersRCV003388189

NM_001166114.2(PNPLA6):c.715-2A>C

SNV
Germline

Chr19:7540628

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403105086

rs_2512499462

1 SubmittersRCV003388198

NM_001166114.2(PNPLA6):c.3412A>T (p.Ser1138Cys)

SNV
Germline

Chr19:7558864

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403134505

rs_2512570397

1 SubmittersRCV003388199

NM_001371279.1(REEP1):c.176T>A (p.Leu59His)

SNV
Germline

Chr2:86263971

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347719903

rs_1553462741

1 SubmittersRCV003388204

NM_025137.4(SPG11):c.5193G>A (p.Trp1731Ter)

SNV
Germline

Chr15:44584487

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392223086

rs_2505293700

1 SubmittersRCV003388206

NM_025137.4(SPG11):c.2704G>T (p.Glu902Ter)

SNV
Germline

Chr15:44620320

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392230810

rs_2505542496

1 SubmittersRCV003388207

NM_003119.4(SPG7):c.2195T>C (p.Leu732Pro)

SNV
Germline

Chr16:89556900

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397417439

rs_2543859245

2 SubmittersRCV003388209

NM_003119.4(SPG7):c.286+853A>G

SNV
Germline

Chr16:89511445

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA286522044

rs_982277188

2 SubmittersRCV003388210

NM_003119.4(SPG7):c.2001G>A (p.Met667Ile)

SNV
Germline

Chr16:89553858

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

CA397433981

rs_2543849852

2 SubmittersRCV003388212

NM_014846.4(WASHC5):c.1024C>T (p.Gln342Ter)

SNV
Germline

Chr8:125073279

Conflicting classifications of pathogenicity

Condition: not provided
WASHC5-related disorder
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Conflicting Classifications

CA372194349

rs_1296153120

3 SubmittersRCV003225454 RCV003410310 RCV005227943

NM_006459.4(ERLIN1):c.196-1G>A

SNV
Germline

Chr10:100179248

Pathogenic

Hereditary spastic paraplegia 62

Criteria Provided
Single Submitter

CA378155866

rs_2492926235

1 SubmittersRCV003226046

NM_025137.4(SPG11):c.7023C>G (p.Tyr2341Ter)

SNV
Germline

Chr15:44564675

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA392212955

rs_80338869

1 SubmittersRCV003226857

NM_015915.5(ATL1):c.656G>A (p.Trp219Ter)

SNV
Germline

Chr14:50613284

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA389670911

rs_2504540656

1 SubmittersRCV003229541

NM_025137.4(SPG11):c.4162-10T>G

SNV
Germline

Chr15:44596365

Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA7534739

rs_765557765

3 SubmittersRCV003230195 RCV005012821

NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)

SNV
Germline

Chr15:44564698

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7533923

rs_764647588

2 SubmittersRCV003230818 RCV003495329

NM_015915.5(ATL1):c.757G>T (p.Val253Phe)

SNV
Germline

Chr14:50614406

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

CA389671554

rs_864622520

2 SubmittersRCV003231729 RCV003502715

NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro)

SNV
Germline

Chr14:50628119

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA389675734

rs_972161717

2 SubmittersRCV003320400

NM_001244008.2(KIF1A):c.1021A>C (p.Thr341Pro)

SNV
Germline

Chr2:240774199

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351296671

rs_2052419658

1 SubmittersRCV003320401

NM_014855.3(AP5Z1):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr7:4783454

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA366659103

rs_1222774799

1 SubmittersRCV003233449

NM_004984.4(KIF5A):c.566C>G (p.Ser189Ter)

SNV
Unknown

Chr12:57567190

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385497918

rs_140144799

1 SubmittersRCV003234860

NM_015915.5(ATL1):c.1024C>T (p.Pro342Ser)

SNV
Germline

Chr14:50621876

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Single Submitter

CA389673594

rs_1555365509

2 SubmittersRCV003312908 RCV006437206

NM_015915.5(ATL1):c.1193C>T (p.Ser398Phe)

SNV
Germline

Chr14:50628104

Pathogenic

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Single Submitter

CA389675653

rs_864622083

2 SubmittersRCV003312911 RCV004719318

NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu)

SNV
Germline

Chr14:50628148

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389675835

rs_2504577368

2 SubmittersRCV003312913

NM_015915.5(ATL1):c.1237T>G (p.Phe413Val)

SNV
Germline

Chr14:50628148

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

CA389675836

rs_2504577368

2 SubmittersRCV003312914

NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr)

SNV
Germline

Chr14:50628230

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389676031

rs_2504577780

2 SubmittersRCV003312915

NM_014946.4(SPAST):c.1536+3A>G

SNV
Germline

Chr2:32141949

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA2697547954

rs_2465896658

1 SubmittersRCV003482912

NM_003119.4(SPG7):c.1303C>T (p.Gln435Ter)

SNV
Unknown

Chr16:89532615

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397421264

rs_2543766832

1 SubmittersRCV003314272

NM_020944.3(GBA2):c.1602C>A (p.Tyr534Ter)

SNV
Unknown

Chr9:35739400

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

CA373411530

rs_1188035446

1 SubmittersRCV003314394

NM_001083962.2(TCF4):c.1146+2T>C

SNV
Germline

Chr18:55257313

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA402534122

rs_2512178559

1 SubmittersRCV003314498

NM_021870.3(FGG):c.1201C>T (p.Arg401Trp)

SNV
Germline

Chr4:154604995

Pathogenic

Hereditary spastic paraplegia 4
Congenital afibrinogenemia
Familial dysfibrinogenemia

Criteria Provided
Multiple Submitters
No Conflicts

CA108774405

rs_75848804

2 SubmittersRCV003314519 RCV005412537

NM_000090.4(COL3A1):c.898-1G>A

SNV
Germline

Chr2:188991668

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA349849968

rs_587779556

1 SubmittersRCV003314535

NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)

SNV
Germline

Chr2:240773245

Conflicting classifications of pathogenicity

Condition: not provided
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA351296351

rs_1250253395

2 SubmittersRCV003319061 RCV003777306

NM_000533.5(PLP1):c.789C>G (p.Tyr263Ter)

SNV
Germline

ChrX:103790553

Likely pathogenic

Hereditary spastic paraplegia 2
Pelizaeus-Merzbacher disease

Criteria Provided
Single Submitter

CA414104920

rs_1556273075

1 SubmittersRCV003319958

NM_001244008.2(KIF1A):c.1000G>A (p.Ala334Thr)

SNV
Unknown

Chr2:240774220

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

CA351296782

rs_2537957328

1 SubmittersRCV003322680

NM_004984.4(KIF5A):c.1396G>T (p.Val466Phe)

SNV
Germline

Chr12:57572094

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA385506100

rs_1271167685

2 SubmittersRCV003330216 RCV005103926

NM_003119.4(SPG7):c.376+2T>A

SNV
Germline

Chr16:89513039

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397417166

rs_2543681640

1 SubmittersRCV003331873

NM_025137.4(SPG11):c.6999+1G>T

SNV
Germline

Chr15:44565853

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA392213016

rs_1191614292

1 SubmittersRCV003331948

NM_025137.4(SPG11):c.3454-28A>G

SNV
Germline

Chr15:44606119

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA2582342617

rs_2505448181

1 SubmittersRCV003335798

NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)

SNV
Germline

Chr16:74716476

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

CA396769093

rs_1567632441

1 SubmittersRCV003335824

NM_025137.4(SPG11):c.3057T>A (p.Cys1019Ter)

SNV
Germline

Chr15:44613518

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392228770

rs_2505501329

1 SubmittersRCV003340836

NM_025137.4(SPG11):c.3453+1G>T

SNV
Germline

Chr15:44608443

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392224599

rs_2083377690

1 SubmittersRCV003337719

NM_031448.6(C19orf12):c.118T>G (p.Phe40Val)

SNV
Germline

Chr19:29708296

Conflicting classifications of pathogenicity

Neurodegeneration with brain iron accumulation 4
Hereditary spastic paraplegia 43

Criteria Provided
Conflicting Classifications

CA405145452

rs_2513299932

2 SubmittersRCV003338016 RCV004786924

NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)

SNV
Germline

Chr9:35737336

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 46
Neurodevelopmental disorder

Criteria Provided
Conflicting Classifications

CA5050028

rs_757252849

2 SubmittersRCV003338121 RCV003389089

NM_015915.5(ATL1):c.522+1G>T

SNV
Germline

Chr14:50591640

Likely pathogenic

Hereditary spastic paraplegia 3A

No Assertion Criteria Provided

CA389667753

rs_2504493819

1 SubmittersRCV003384313

NM_025137.4(SPG11):c.696T>A (p.Tyr232Ter)

SNV
Germline

Chr15:44657268

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392237488

rs_111583187

1 SubmittersRCV003388652

NM_003119.4(SPG7):c.2T>G (p.Met1Arg)

SNV
Germline

Chr16:89508419

Pathogenic

Hereditary spastic paraplegia 7

No Assertion Criteria Provided

CA397415808

rs_1332265538

1 SubmittersRCV003388959

NM_025137.4(SPG11):c.2621-1G>A

SNV
Unknown

Chr15:44620404

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392231001

rs_2505543230

1 SubmittersRCV003389135

NM_001371279.1(REEP1):c.44G>T (p.Gly15Val)

SNV
Unknown

Chr2:86282231

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347722751

rs_2468983362

1 SubmittersRCV003389301

NM_001371279.1(REEP1):c.55C>A (p.Pro19Thr)

SNV
Germline

Chr2:86282220

Conflicting classifications of pathogenicity

REEP1-related disorder
Hereditary spastic paraplegia 31

Criteria Provided
Conflicting Classifications

CA347722707

rs_2468983254

2 SubmittersRCV003391646 RCV005254785

NM_014946.4(SPAST):c.1099-2A>C

SNV
Germline

Chr2:32126946

Pathogenic/Likely pathogenic

SPAST-related disorder
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346501184

rs_2465860656

2 SubmittersRCV003402135 RCV005104325

NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)

SNV
Germline

Chr2:32063958

Conflicting classifications of pathogenicity

SPAST-related disorder
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA1600497

rs_573642949

2 SubmittersRCV003402677 RCV003523171

NM_001776.6(ENTPD1):c.536G>A (p.Trp179Ter)

SNV
Germline

Chr10:95844598

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 64

Criteria Provided
Conflicting Classifications

CA377822835

rs_2494403988

2 SubmittersRCV003442665 RCV005254790

NM_003119.4(SPG7):c.1151-1G>C

SNV
Germline

Chr16:89532462

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397420597

rs_2543765087

1 SubmittersRCV003447699

NM_024306.5(FA2H):c.363+2T>C

SNV
Germline

Chr16:74740021

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Multiple Submitters
No Conflicts

CA396770290

rs_2544344603

3 SubmittersRCV003448934

NM_001244008.2(KIF1A):c.883-6C>G

SNV
Germline

Chr2:240775932

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

CA1044071850

rs_2052666511

2 SubmittersRCV003481691 RCV005216126

NM_014946.4(SPAST):c.1493G>A (p.Arg498Lys)

SNV
Germline

Chr2:32137188

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

CA346502547

rs_2148754411

2 SubmittersRCV003482507 RCV003633730

NM_025137.4(SPG11):c.1999G>T (p.Glu667Ter)

SNV
Germline

Chr15:44628737

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392234201

rs_2505596751

1 SubmittersRCV003495542

NM_015915.5(ATL1):c.35-1G>A

SNV
Germline

Chr14:50587830

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389665128

rs_2504484068

1 SubmittersRCV003502917

NM_001371279.1(REEP1):c.72C>A (p.Tyr24Ter)

SNV
Germline

Chr2:86282203

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

CA347722613

rs_2468983090

1 SubmittersRCV003498280

NM_014946.4(SPAST):c.870+2T>C

SNV
Germline

Chr2:32114827

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346498949

rs_2465835765

1 SubmittersRCV003523238

NM_025137.4(SPG11):c.3340C>T (p.Gln1114Ter)

SNV
Germline

Chr15:44608557

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392225012

rs_2505464687

1 SubmittersRCV003495532

NM_001166114.2(PNPLA6):c.315+1G>T

SNV
Germline

Chr19:7536274

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA9139405

rs_751417408

1 SubmittersRCV003508285

NM_014844.5(TECPR2):c.51C>G (p.Tyr17Ter)

SNV
Germline

Chr14:102376772

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391040422

rs_1395112297

1 SubmittersRCV003537835

NM_025137.4(SPG11):c.2834+1G>A

SNV
Germline

Chr15:44620189

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392230498

rs_312262749

1 SubmittersRCV003496411

NM_025137.4(SPG11):c.6478-2A>G

SNV
Germline

Chr15:44569507

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392216142

rs_2082374687

1 SubmittersRCV003496459

NM_014855.3(AP5Z1):c.1806-1G>C

SNV
Germline

Chr7:4790458

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Multiple Submitters
No Conflicts

CA366663900

rs_1490988278

2 SubmittersRCV003496538

NM_025137.4(SPG11):c.5263C>T (p.Gln1755Ter)

SNV
Germline

Chr15:44584417

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA270080357

rs_994177395

1 SubmittersRCV003497031

NM_025137.4(SPG11):c.6284T>A (p.Leu2095Ter)

SNV
Germline

Chr15:44572742

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392217293

rs_185665930

1 SubmittersRCV003497036

NM_025137.4(SPG11):c.2914C>T (p.Gln972Ter)

SNV
Germline

Chr15:44615487

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA7535105

rs_780692790

1 SubmittersRCV003497183

NM_001199753.2(CPT1C):c.558C>A (p.Tyr186Ter)

SNV
Germline

Chr19:49701499

Pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

CA406900438

rs_1447368316

1 SubmittersRCV003590909

NM_014855.3(AP5Z1):c.1805+8C>G

SNV
Germline

Chr7:4789937

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 48
Condition: not provided

Criteria Provided
Conflicting Classifications

CA572434061

rs_1422776122

2 SubmittersRCV003497149 RCV004999961

NM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys)

SNV
Germline

Chr14:50628287

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389676154

rs_2504578020

2 SubmittersRCV003504579 RCV006251260

NM_025137.4(SPG11):c.5087C>G (p.Ala1696Gly)

SNV
Germline

Chr15:44585670

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392223339

rs_2505301156

1 SubmittersRCV003494688

NM_025137.4(SPG11):c.2278T>C (p.Cys760Arg)

SNV
Germline

Chr15:44622766

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392232484

rs_2505563283

1 SubmittersRCV003494690

NM_025137.4(SPG11):c.1021C>T (p.Gln341Ter)

SNV
Germline

Chr15:44651926

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392236764

rs_1555381616

1 SubmittersRCV003494691

NM_025137.4(SPG11):c.442+1G>A

SNV
Germline

Chr15:44660431

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392238057

rs_312262715

1 SubmittersRCV003494692

NM_001271803.2(REEP2):c.739A>G (p.Thr247Ala)

SNV
Germline

Chr5:138445725

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 72
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3429916

rs_752209038

2 SubmittersRCV003583641 RCV005714991

NM_025137.4(SPG11):c.3289C>T (p.Gln1097Ter)

SNV
Germline

Chr15:44610842

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392226268

rs_2505481566

1 SubmittersRCV003495079

NM_014946.4(SPAST):c.782C>G (p.Ser261Ter)

SNV
Germline

Chr2:32114737

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346498586

rs_768241184

1 SubmittersRCV003525266

NM_014946.4(SPAST):c.1004+5G>C

SNV
Germline

Chr2:32115840

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA1242491943

rs_1320663265

1 SubmittersRCV003525267

NM_014946.4(SPAST):c.1391A>C (p.Glu464Ala)

SNV
Germline

Chr2:32136946

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502316

rs_1553318251

1 SubmittersRCV003525269

NM_014946.4(SPAST):c.1537-2A>T

SNV
Germline

Chr2:32143334

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346503556

rs_2465902960

1 SubmittersRCV003525270

NM_014946.4(SPAST):c.1617-1G>T

SNV
Germline

Chr2:32144936

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504149

rs_1553319526

1 SubmittersRCV003525271

NM_014946.4(SPAST):c.1664A>G (p.Asp555Gly)

SNV
Germline

Chr2:32144984

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346504254

rs_1553319548

1 SubmittersRCV003525273

NM_014946.4(SPAST):c.1844C>T (p.Thr615Ile)

SNV
Germline

Chr2:32154489

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346505775

rs_765941217

1 SubmittersRCV003525276

NM_000533.5(PLP1):c.608A>G (p.Asp203Gly)

SNV
Germline

ChrX:103787952

Likely pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414104099

rs_2522315377

1 SubmittersRCV003513697

NM_001166114.2(PNPLA6):c.3104C>A (p.Ser1035Ter)

SNV
Germline

Chr19:7556463

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403132954

rs_541098659

1 SubmittersRCV003506806

NM_003119.4(SPG7):c.2104-1G>C

SNV
Germline

Chr16:89554485

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

CA397434574

rs_2543851938

1 SubmittersRCV003506846

NM_001166114.2(PNPLA6):c.3913+1G>A

SNV
Germline

Chr19:7561111

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA9140625

rs_757373736

1 SubmittersRCV003506927

NM_001166114.2(PNPLA6):c.1946+2T>G

SNV
Germline

Chr19:7550431

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403123047

rs_774029027

1 SubmittersRCV003508875

NM_014844.5(TECPR2):c.2532G>A (p.Trp844Ter)

SNV
Germline

Chr14:102438159

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391065990

rs_2504432999

1 SubmittersRCV003536980

NM_025137.4(SPG11):c.1456+1G>T

SNV
Germline

Chr15:44651490

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392235792

rs_2505724394

1 SubmittersRCV003495591

NM_001166114.2(PNPLA6):c.2184+1G>A

SNV
Germline

Chr19:7551108

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403124866

rs_2512537311

1 SubmittersRCV003507030

NM_014844.5(TECPR2):c.951+1G>C

SNV
Germline

Chr14:102425292

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391049034

rs_1889286788

1 SubmittersRCV003536909

NM_025137.4(SPG11):c.5258C>A (p.Ser1753Ter)

SNV
Germline

Chr15:44584422

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392222940

rs_2082716347

1 SubmittersRCV003495874

NM_014946.4(SPAST):c.1537-2A>C

SNV
Germline

Chr2:32143334

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA346503558

rs_2465902960

2 SubmittersRCV003524667 RCV004999974

NM_025137.4(SPG11):c.4906+2T>C

SNV
Germline

Chr15:44589250

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392224109

rs_2505324090

1 SubmittersRCV003496611

NM_000533.5(PLP1):c.453+8T>C

SNV
Germline

ChrX:103786734

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA644062727

rs_1451785682

2 SubmittersRCV003512736 RCV005416727

NM_025137.4(SPG11):c.1603-1G>C

SNV
Germline

Chr15:44633638

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392235451

rs_2505629437

1 SubmittersRCV003496592

NM_025137.4(SPG11):c.2068-1G>A

SNV
Germline

Chr15:44626508

Likely pathogenic

Hereditary spastic paraplegia 11
Adrenocortical carcinoma, hereditary

Criteria Provided
Single Submitter

CA392234031

rs_2505582928

2 SubmittersRCV003496039 RCV005931534

NM_014946.4(SPAST):c.1166C>T (p.Thr389Ile)

SNV
Germline

Chr2:32127015

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346501335

rs_2465861005

1 SubmittersRCV003522729

NM_001166114.2(PNPLA6):c.1168+1G>C

SNV
Germline

Chr19:7541685

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403110076

rs_1184058017

1 SubmittersRCV003507948

NM_014844.5(TECPR2):c.3075+1G>A

SNV
Germline

Chr14:102445948

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391067851

rs_2504446531

1 SubmittersRCV003649471

NM_001776.6(ENTPD1):c.861T>A (p.Tyr287Ter)

SNV
Germline

Chr10:95847493

Pathogenic

Hereditary spastic paraplegia 64
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377823592

rs_2494454909

2 SubmittersRCV003746749 RCV004798054

NM_025137.4(SPG11):c.4834C>T (p.Gln1612Ter)

SNV
Germline

Chr15:44589324

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392224273

rs_2505324758

1 SubmittersRCV003600536

NM_025137.4(SPG11):c.257+1G>A

SNV
Germline

Chr15:44663390

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392238474

rs_1171509531

1 SubmittersRCV003600538

NM_015346.4(ZFYVE26):c.5941C>T (p.Gln1981Ter)

SNV
Germline

Chr14:67766297

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390165712

rs_2503979318

2 SubmittersRCV003751062 RCV005003678

NM_025137.4(SPG11):c.3521-2A>G

SNV
Germline

Chr15:44600634

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392231378

rs_2083161760

1 SubmittersRCV003600715

NM_025137.4(SPG11):c.5121+2T>G

SNV
Germline

Chr15:44585634

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392223264

rs_2505300845

1 SubmittersRCV003600682

NM_025137.4(SPG11):c.5443C>T (p.Gln1815Ter)

SNV
Germline

Chr15:44584237

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392222533

rs_146098780

1 SubmittersRCV003601503

NM_014946.4(SPAST):c.1363C>T (p.His455Tyr)

SNV
Germline

Chr2:32136918

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502254

rs_863224769

1 SubmittersRCV003634638

NM_014844.5(TECPR2):c.3460C>T (p.Gln1154Ter)

SNV
Germline

Chr14:102452447

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391068729

rs_1338226967

1 SubmittersRCV003649835

NM_000533.5(PLP1):c.406G>T (p.Glu136Ter)

SNV
Germline

ChrX:103786679

Pathogenic

Hereditary spastic paraplegia 2
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA414102869

rs_2522308250

2 SubmittersRCV003622655 RCV005931649

NM_025137.4(SPG11):c.3067G>T (p.Glu1023Ter)

SNV
Germline

Chr15:44613508

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392228714

rs_2505501210

1 SubmittersRCV003602050

NM_025137.4(SPG11):c.1909C>T (p.Gln637Ter)

SNV
Germline

Chr15:44628827

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392234399

rs_1310672924

1 SubmittersRCV003601623

NM_025137.4(SPG11):c.1478T>A (p.Leu493Ter)

SNV
Germline

Chr15:44648990

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392235739

rs_2505711019

1 SubmittersRCV003601735

NM_025137.4(SPG11):c.2568G>A (p.Trp856Ter)

SNV
Germline

Chr15:44621811

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392231507

rs_2505553093

1 SubmittersRCV003601841

NM_015915.5(ATL1):c.574C>G (p.Leu192Val)

SNV
Germline

Chr14:50595576

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389668807

rs_2039208042

2 SubmittersRCV003612723 RCV004823177

NM_001166114.2(PNPLA6):c.1720C>T (p.Gln574Ter)

SNV
Germline

Chr19:7550018

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403120009

rs_2512532339

1 SubmittersRCV003618597

NM_001166114.2(PNPLA6):c.714+1G>A

SNV
Germline

Chr19:7540309

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403104956

rs_2512498189

1 SubmittersRCV003618569

NM_025137.4(SPG11):c.154G>T (p.Glu52Ter)

SNV
Germline

Chr15:44663494

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392238678

rs_2085183291

1 SubmittersRCV003602147

NM_001199753.2(CPT1C):c.694-2A>G

SNV
Germline

Chr19:49704708

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

CA406901856

rs_2514147270

1 SubmittersRCV003752029

NM_015346.4(ZFYVE26):c.1558C>T (p.Gln520Ter)

SNV
Germline

Chr14:67802160

Pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390176375

rs_2502866864

2 SubmittersRCV003752166 RCV005419679

NM_025137.4(SPG11):c.1144C>T (p.Gln382Ter)

SNV
Germline

Chr15:44651803

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA7535610

rs_772359178

1 SubmittersRCV003602296

NM_000533.5(PLP1):c.361C>T (p.Gln121Ter)

SNV
Germline

ChrX:103786634

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

CA414102769

rs_2522307891

1 SubmittersRCV003623166

NM_014844.5(TECPR2):c.2554C>T (p.Gln852Ter)

SNV
Germline

Chr14:102438181

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391066085

rs_1268839383

1 SubmittersRCV003653729

NM_025137.4(SPG11):c.2985T>G (p.Tyr995Ter)

SNV
Germline

Chr15:44615416

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392229276

rs_2505512946

1 SubmittersRCV003599937

NM_001166114.2(PNPLA6):c.1678G>T (p.Asp560Tyr)

SNV
Germline

Chr19:7549976

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403119504

rs_1568415448

1 SubmittersRCV003617579

NM_001166114.2(PNPLA6):c.1913G>A (p.Trp638Ter)

SNV
Germline

Chr19:7550396

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403122751

rs_1316404038

1 SubmittersRCV003617580

NM_025137.4(SPG11):c.3527G>A (p.Trp1176Ter)

SNV
Germline

Chr15:44600626

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392231360

rs_2083161364

1 SubmittersRCV003599992

NM_014946.4(SPAST):c.16G>T (p.Gly6Ter)

SNV
Germline

Chr2:32063847

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346601200

rs_2465679369

1 SubmittersRCV003633041

NM_014855.3(AP5Z1):c.1954G>T (p.Glu652Ter)

SNV
Germline

Chr7:4790688

Pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA4138236

rs_760734290

1 SubmittersRCV003597546

NM_025137.4(SPG11):c.6507C>A (p.Tyr2169Ter)

SNV
Germline

Chr15:44569476

Pathogenic

Hereditary spastic paraplegia 11
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA392216014

rs_1476614745

2 SubmittersRCV003600007 RCV005934692

NM_025137.4(SPG11):c.4907-2A>C

SNV
Germline

Chr15:44585852

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392223744

rs_2505302482

1 SubmittersRCV003600081

NM_015915.5(ATL1):c.336G>A (p.Trp112Ter)

SNV
Germline

Chr14:50590994

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

CA389666609

rs_2504492104

1 SubmittersRCV003613515

NM_004820.5(CYP7B1):c.1082G>A (p.Arg361Gln)

SNV
Germline

Chr8:64604833

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4764051

rs_139816673

3 SubmittersRCV003752503 RCV005047777 RCV004810530

NM_025137.4(SPG11):c.2356G>T (p.Glu786Ter)

SNV
Germline

Chr15:44622308

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392232015

rs_2505558480

1 SubmittersRCV003600255

NM_015346.4(ZFYVE26):c.5729G>A (p.Trp1910Ter)

SNV
Germline

Chr14:67767765

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 15

Criteria Provided
Multiple Submitters
No Conflicts

CA390166407

rs_2502760250

2 SubmittersRCV003750399 RCV004818407

NM_025137.4(SPG11):c.5598C>A (p.Cys1866Ter)

SNV
Germline

Chr15:44584082

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392221957

rs_570599267

1 SubmittersRCV003600251

NM_002055.5(GFAP):c.593G>A (p.Arg198Gln)

SNV
Germline

Chr17:44913753

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8608957

rs_148887665

3 SubmittersRCV003710511 RCV005626845

NM_014946.4(SPAST):c.1273G>C (p.Ala425Pro)

SNV
Germline

Chr2:32136590

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346502042

rs_2465883035

1 SubmittersRCV003633312

NM_004820.5(CYP7B1):c.650T>A (p.Leu217Ter)

SNV
Germline

Chr8:64615891

Pathogenic/Likely pathogenic

Spastic paraplegia
Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3

Criteria Provided
Multiple Submitters
No Conflicts

CA371335275

rs_1245262159

2 SubmittersRCV003750472 RCV005051368

NM_014946.4(SPAST):c.1066G>T (p.Glu356Ter)

SNV
Germline

Chr2:32116180

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346499778

rs_1057519181

1 SubmittersRCV003633328

NM_025137.4(SPG11):c.1602+1G>A

SNV
Germline

Chr15:44648865

Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA392235461

rs_2505710044

2 SubmittersRCV003600337 RCV005013125

NM_025137.4(SPG11):c.2621-6A>G

SNV
Germline

Chr15:44620409

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA270072416

rs_753436106

2 SubmittersRCV003600948 RCV003885368

NM_025137.4(SPG11):c.3691C>T (p.Gln1231Ter)

SNV
Germline

Chr15:44598832

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392230494

rs_2505396686

1 SubmittersRCV003600940

NM_001166114.2(PNPLA6):c.2533C>T (p.Gln845Ter)

SNV
Germline

Chr19:7554622

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA9140143

rs_774188638

1 SubmittersRCV003618974

NM_025137.4(SPG11):c.3687-2A>G

SNV
Germline

Chr15:44598838

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392230519

rs_2505396805

1 SubmittersRCV003601137

NM_001166114.2(PNPLA6):c.1372C>T (p.Gln458Ter)

SNV
Germline

Chr19:7542770

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403112434

rs_1488216480

1 SubmittersRCV003618943

NM_025137.4(SPG11):c.5422C>T (p.Gln1808Ter)

SNV
Germline

Chr15:44584258

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA7534408

rs_772441925

1 SubmittersRCV003601168

NM_014946.4(SPAST):c.1775T>G (p.Ile592Arg)

SNV
Germline

Chr2:32154420

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346505619

rs_1553321237

1 SubmittersRCV003634187

NM_014846.4(WASHC5):c.3182-16A>G

SNV
Germline

Chr8:125032410

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4873288

rs_759907949

2 SubmittersRCV003782513 RCV003988148

NM_001244008.2(KIF1A):c.1208-2A>C

SNV
Germline

Chr2:240771106

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351330677

rs_2537867758

1 SubmittersRCV003786174

NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)

SNV
Germline

Chr8:125078816

Pathogenic

Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome

Criteria Provided
Single Submitter

CA4874061

rs_150749307

1 SubmittersRCV003786571

NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)

SNV
Germline

Chr2:240797650

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351315403

rs_2538654464

1 SubmittersRCV003792212

NM_001244008.2(KIF1A):c.5005C>T (p.Gln1669Ter)

SNV
Germline

Chr2:240719790

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351299953

rs_2536614499

1 SubmittersRCV003801574

NM_001010867.4(IBA57):c.341+2T>G

SNV
Germline

Chr1:228166159

Likely pathogenic

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3

Criteria Provided
Single Submitter

CA345106951

rs_1202432368

1 SubmittersRCV003797702

NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)

SNV
Germline

Chr2:240783084

Likely pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351302603

rs_2054279545

1 SubmittersRCV003808958

NM_001244008.2(KIF1A):c.5018T>C (p.Val1673Ala)

SNV
Germline

Chr2:240719777

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351299843

rs_1423611277

2 SubmittersRCV003802343 RCV005242441

NM_001244008.2(KIF1A):c.4324C>T (p.Gln1442Ter)

SNV
Germline

Chr2:240723553

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351305704

rs_2536723934

1 SubmittersRCV003802462

NM_001244008.2(KIF1A):c.1114C>G (p.Leu372Val)

SNV
Germline

Chr2:240773180

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351295391

rs_2537927812

1 SubmittersRCV003815349

NM_001244008.2(KIF1A):c.798+2T>G

SNV
Germline

Chr2:240783737

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

CA351302812

rs_2126054153

1 SubmittersRCV003807591

NM_014844.5(TECPR2):c.2578+1G>A

SNV
Germline

Chr14:102438206

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

CA391066138

rs_2504433132

1 SubmittersRCV003811528

NM_001166114.2(PNPLA6):c.3100A>G (p.Thr1034Ala)

SNV
Germline

Chr19:7556459

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA9140342

rs_745725479

1 SubmittersRCV003828064

NM_014844.5(TECPR2):c.3863G>A (p.Trp1288Ter)

SNV
Germline

Chr14:102497052

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

CA391057517

rs_2504523105

2 SubmittersRCV003828323

NM_025137.4(SPG11):c.6787C>T (p.Gln2263Ter)

SNV
Germline

Chr15:44566273

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA7534001

rs_370259531

1 SubmittersRCV003811007

NM_025137.4(SPG11):c.3932C>T (p.Thr1311Ile)

SNV
Germline

Chr15:44598334

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534815

rs_757630877

2 SubmittersRCV003827604 RCV004366836

NM_025137.4(SPG11):c.1013G>A (p.Trp338Ter)

SNV
Germline

Chr15:44651934

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392236786

rs_2505728928

1 SubmittersRCV003837855

NM_014855.3(AP5Z1):c.970-2A>G

SNV
Germline

Chr7:4785520

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

CA366661178

rs_2534050728

1 SubmittersRCV003838478

NM_025137.4(SPG11):c.4870C>T (p.Gln1624Ter)

SNV
Germline

Chr15:44589288

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA270088608

rs_1032475686

1 SubmittersRCV003834289

NM_001166114.2(PNPLA6):c.3292C>T (p.Arg1098Trp)

SNV
Germline

Chr19:7557179

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

CA403133695

rs_1405021041

1 SubmittersRCV003835300

NM_015161.3(ARL6IP1):c.430T>C (p.Ser144Pro)

SNV
Germline

Chr16:18794662

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 61
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7929452

rs_201216108

2 SubmittersRCV003839629 RCV004366891

NM_004820.5(CYP7B1):c.1233+1G>A

SNV
Germline

Chr8:64604681

Pathogenic/Likely pathogenic

Spastic paraplegia
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A

Criteria Provided
Multiple Submitters
No Conflicts

CA4764027

rs_747514399

2 SubmittersRCV003847895 RCV005040555

NM_025137.4(SPG11):c.5806C>T (p.Gln1936Ter)

SNV
Germline

Chr15:44583874

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

CA392221095

rs_2505289475

1 SubmittersRCV003848693

NM_001199753.2(CPT1C):c.598G>A (p.Asp200Asn)

SNV
Germline

Chr19:49701539

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9581872

rs_759904221

2 SubmittersRCV003862124 RCV004598283

NM_001199753.2(CPT1C):c.1523C>T (p.Thr508Ile)

SNV
Germline

Chr19:49708796

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
not specified

Criteria Provided
Conflicting Classifications

CA9582203

rs_141453772

2 SubmittersRCV003861132 RCV005812237

NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)

SNV
Germline

Chr7:100103460

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

CA4374609

rs_751742955

1 SubmittersRCV003871514

NM_014946.4(SPAST):c.469G>T (p.Glu157Ter)

SNV
Germline

Chr2:32087545

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

CA346603253

rs_1268625226

1 SubmittersRCV003874217

NM_025137.4(SPG11):c.2625C>G (p.Tyr875Ter)

SNV
Germline

Chr15:44620399

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA392230986

rs_2505543171

2 SubmittersRCV003878463 RCV006276426

NM_001199753.2(CPT1C):c.1736G>A (p.Arg579Lys)

SNV
Germline

Chr19:49710727

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 73
Condition: not provided

Criteria Provided
Conflicting Classifications

CA309517705

rs_1019515406

2 SubmittersRCV003880239 RCV006444188

NM_015161.3(ARL6IP1):c.112C>T (p.Arg38Ter)

SNV
Germline

Chr16:18798759

Pathogenic

Hereditary spastic paraplegia 61

Criteria Provided
Multiple Submitters
No Conflicts

CA394913080

rs_1428321490

3 SubmittersRCV003882750

NM_015161.3(ARL6IP1):c.92T>C (p.Leu31Pro)

SNV
Germline

Chr16:18798779

Pathogenic

Hereditary spastic paraplegia 61

No Assertion Criteria Provided

CA394913122

rs_2506673023

1 SubmittersRCV003882751

NM_001244008.2(KIF1A):c.631A>G (p.Asn211Asp)

SNV
Germline

Chr2:240785078

Pathogenic

Hereditary spastic paraplegia 30
Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A

Criteria Provided
Single Submitter

CA351304895

rs_2538309390

1 SubmittersRCV003883385

NM_001351169.2(NT5C2):c.1106T>C (p.Phe369Ser)

SNV
Germline

Chr10:103093192

Likely pathogenic

Hereditary spastic paraplegia 45

No Assertion Criteria Provided

CA5670863

rs_759724715

1 SubmittersRCV003885396

NM_001351169.2(NT5C2):c.1159+2T>G

SNV
Germline

Chr10:103093137

Pathogenic

Hereditary spastic paraplegia 45

No Assertion Criteria Provided

CA377970541

rs_375985056

1 SubmittersRCV003885397

NM_001199753.2(CPT1C):c.2396C>T (p.Thr799Ile)

SNV
Germline

Chr19:49713589

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 73

Criteria Provided
Conflicting Classifications

CA9582512

rs_762616491

2 SubmittersRCV003884119 RCV005101459

NM_001199753.2(CPT1C):c.1045C>T (p.Arg349Ter)

SNV
Germline

Chr19:49705989

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

CA9582062

rs_566644989

1 SubmittersRCV003887842

NM_014846.4(WASHC5):c.711+1G>A

SNV
Germline

Chr8:125078737

Likely pathogenic

Hereditary spastic paraplegia 8
Lung cancer

Criteria Provided
Single Submitter

CA4874047

rs_767855117

2 SubmittersRCV003886323 RCV005936764

NM_001478.5(B4GALNT1):c.1322C>A (p.Ala441Glu)

SNV
Germline

Chr12:57627680

Likely pathogenic

Hereditary spastic paraplegia 26

Criteria Provided
Multiple Submitters
No Conflicts

CA237790241

rs_563575730

3 SubmittersRCV003988715

NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)

SNV
Germline

Chr16:74719086

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35

Criteria Provided
Conflicting Classifications

CA396769571

rs_1251854904

4 SubmittersRCV003990185

NM_001351169.2(NT5C2):c.176-2A>G

SNV
Germline

Chr10:103106708

Likely pathogenic

Hereditary spastic paraplegia 45
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA377978483

rs_1273292745

2 SubmittersRCV003989271 RCV005937375

NM_015346.4(ZFYVE26):c.6589-2A>G

SNV
Germline

Chr14:67756147

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390162082

rs_2140185593

1 SubmittersRCV003990605

NM_015346.4(ZFYVE26):c.3304+1G>A

SNV
Germline

Chr14:67785857

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

CA390172545

rs_2502816810

1 SubmittersRCV003994710

NM_020944.3(GBA2):c.1720C>T (p.Arg574Ter)

SNV
Germline

Chr9:35739077

Pathogenic

Hereditary spastic paraplegia 46
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA5050304

rs_759632589

2 SubmittersRCV003994807 RCV006483720

NM_024306.5(FA2H):c.1023T>A (p.Phe341Leu)

SNV
Germline

Chr16:74716363

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 35

Criteria Provided
Conflicting Classifications

CA396768846

rs_2544311876

2 SubmittersRCV004006225

NM_020944.3(GBA2):c.1351C>T (p.Arg451Ter)

SNV
Germline

Chr9:35740056

Pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

1 SubmittersRCV004765389

NM_014946.4(SPAST):c.1076T>C (p.Ile359Thr)

SNV
Germline

Chr2:32116190

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV004767560

NM_004984.4(KIF5A):c.806T>C (p.Leu269Pro)

SNV
Germline

Chr12:57569054

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

CA385500298

rs_2540499468

1 SubmittersRCV004549035

NM_003119.4(SPG7):c.535G>T (p.Glu179Ter)

SNV
Germline

Chr16:89524164

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004765029

NM_003119.4(SPG7):c.1779+1G>T

SNV
Germline

Chr16:89550610

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004765068

NM_003119.4(SPG7):c.1A>C (p.Met1Leu)

SNV
Germline

Chr16:89508418

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004765069

NM_003119.4(SPG7):c.1310T>C (p.Leu437Pro)

SNV
Germline

Chr16:89532622

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004765070

NM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter)

SNV
Germline

Chr16:89548091

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004765072

NM_001776.6(ENTPD1):c.1174C>T (p.Gln392Ter)

SNV
Germline

Chr10:95860568

Pathogenic

Hereditary spastic paraplegia 64

No Assertion Criteria Provided

rs_766222251

1 SubmittersRCV004560360

NM_001371279.1(REEP1):c.248G>T (p.Gly83Val)

SNV
Unknown

Chr2:86254749

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 31
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2468842177

2 SubmittersRCV004560465 RCV005000522

NM_003119.4(SPG7):c.851T>C (p.Phe284Ser)

SNV
Germline

Chr16:89529569

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004818485

NM_003119.4(SPG7):c.3G>A (p.Met1Ile)

SNV
Germline

Chr16:89508420

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_2543660604

3 SubmittersRCV004585107 RCV004818487

NM_003119.4(SPG7):c.1756G>T (p.Glu586Ter)

SNV
Germline

Chr16:89550586

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004818491

NM_003119.4(SPG7):c.1A>T (p.Met1Leu)

SNV
Germline

Chr16:89508418

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004818494

NM_003119.4(SPG7):c.958G>T (p.Glu320Ter)

SNV
Germline

Chr16:89530779

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004818495

NM_005619.5(RTN2):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr19:45494982

Pathogenic

Hereditary spastic paraplegia 12

No Assertion Criteria Provided

rs_1968243327

1 SubmittersRCV004584291

NM_025137.4(SPG11):c.4012G>T (p.Glu1338Ter)

SNV
Germline

Chr15:44596933

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

rs_1555451163

1 SubmittersRCV004585151

NM_000533.5(PLP1):c.676T>C (p.Ser226Pro)

SNV
Germline

ChrX:103788490

Pathogenic/Likely pathogenic

Pelizaeus-Merzbacher disease
Condition: not provided
Hereditary spastic paraplegia 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2522318268

3 SubmittersRCV004595794 RCV004801469 RCV005102053

NM_000533.5(PLP1):c.834A>T (p.Ter278Cys)

SNV
Germline

ChrX:103790598

Conflicting classifications of pathogenicity

Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Conflicting Classifications

rs_2522328650

2 SubmittersRCV004595806 RCV005102054

NM_183075.3(CYP2U1):c.913C>T (p.His305Tyr)

SNV
Germline

Chr4:107945392

Pathogenic

Hereditary spastic paraplegia 56

No Assertion Criteria Provided

rs_2477023952

1 SubmittersRCV004595830

NM_000090.4(COL3A1):c.3572G>T (p.Gly1191Val)

SNV
Germline

Chr2:189008970

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004596061

NM_002361.4(MAG):c.809T>C (p.Leu270Pro)

SNV
Germline

Chr19:35300243

Likely pathogenic

Hereditary spastic paraplegia 75

No Assertion Criteria Provided

1 SubmittersRCV004767587

NM_014855.3(AP5Z1):c.1349T>C (p.Phe450Ser)

SNV
Germline

Chr7:4787671

Likely pathogenic

Hereditary spastic paraplegia 48

No Assertion Criteria Provided

1 SubmittersRCV004767611

NM_014855.3(AP5Z1):c.630C>G (p.Pro210=)

SNV
Germline

Chr7:4784211

Likely pathogenic

Hereditary spastic paraplegia 48

No Assertion Criteria Provided

1 SubmittersRCV004767612

NM_020944.3(GBA2):c.1255T>G (p.Phe419Val)

SNV
Germline

Chr9:35740237

Likely pathogenic

Hereditary spastic paraplegia 46

No Assertion Criteria Provided

1 SubmittersRCV004767628

NM_001371279.1(REEP1):c.303+1G>A

SNV
Germline

Chr2:86254693

Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 31

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004698015 RCV005103540

NM_014946.4(SPAST):c.1158T>G (p.Asn386Lys)

SNV
Germline

Chr2:32127007

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004698128 RCV006737023

NM_025137.4(SPG11):c.3080T>G (p.Leu1027Ter)

SNV
Germline

Chr15:44613495

Pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV004701123

NM_014946.4(SPAST):c.1130G>A (p.Gly377Glu)

SNV
Germline

Chr2:32126979

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004719593 RCV006474541

NM_001199753.2(CPT1C):c.1081C>T (p.Gln361Ter)

SNV
Unknown

Chr19:49706025

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV004723648

NM_014946.4(SPAST):c.1154G>A (p.Gly385Glu)

SNV
Germline

Chr2:32127003

Pathogenic

SPAST-related disorder
Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

2 SubmittersRCV004730393 RCV006474575

NM_014946.4(SPAST):c.1245+1G>T

SNV
Germline

Chr2:32128480

Pathogenic

SPAST-related disorder
Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

2 SubmittersRCV004732272 RCV005103650

NM_003119.4(SPG7):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:89508419

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV004764679

NM_014946.4(SPAST):c.255C>T (p.Ala85=)

SNV
Germline

Chr2:32064086

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004772710 RCV005061407

NM_000533.5(PLP1):c.622+1G>A

SNV
Germline

ChrX:103787967

Pathogenic

Pelizaeus-Merzbacher disease
Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV004782214

NM_014844.5(TECPR2):c.2846C>A (p.Ala949Glu)

SNV
Germline

Chr14:102443740

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV004788304

NM_014844.5(TECPR2):c.480G>A (p.Gln160=)

SNV
Germline

Chr14:102408619

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV004788315

NM_003119.4(SPG7):c.988-7C>T

SNV
Germline

Chr16:89531897

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004790084

NM_014946.4(SPAST):c.1636G>A (p.Gly546Arg)

SNV
Germline

Chr2:32144956

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004786180 RCV004796890

NM_014946.4(SPAST):c.1294G>T (p.Glu432Ter)

SNV
Germline

Chr2:32136611

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004792020

NM_014946.4(SPAST):c.427G>T (p.Glu143Ter)

SNV
Germline

Chr2:32087503

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004797003

NM_014946.4(SPAST):c.1616+1G>T

SNV
Germline

Chr2:32143416

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV004797273

NM_001368809.2(AMPD2):c.1471G>A (p.Gly491Arg)

SNV
Germline

Chr1:109628706

Likely pathogenic

Hereditary spastic paraplegia 63
Gastric cancer

Criteria Provided
Single Submitter

2 SubmittersRCV004799058 RCV005935679

NM_025137.4(SPG11):c.7159C>T (p.Gln2387Ter)

SNV
Germline

Chr15:44563294

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009596

NM_025137.4(SPG11):c.7096G>T (p.Glu2366Ter)

SNV
Germline

Chr15:44564602

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009597

NM_025137.4(SPG11):c.6859C>T (p.Gln2287Ter)

SNV
Germline

Chr15:44565994

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009599 RCV006484617

NM_025137.4(SPG11):c.6477+1G>C

SNV
Germline

Chr15:44570524

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009603

NM_025137.4(SPG11):c.6343+2T>C

SNV
Germline

Chr15:44572681

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009604

NM_025137.4(SPG11):c.6271C>T (p.Gln2091Ter)

SNV
Germline

Chr15:44572755

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009605 RCV005112587

NM_025137.4(SPG11):c.6253C>T (p.Gln2085Ter)

SNV
Germline

Chr15:44572773

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009607

NM_025137.4(SPG11):c.6206-2A>G

SNV
Germline

Chr15:44572822

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009608

NM_025137.4(SPG11):c.6194C>A (p.Ser2065Ter)

SNV
Germline

Chr15:44573558

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009609

NM_025137.4(SPG11):c.5677G>T (p.Glu1893Ter)

SNV
Germline

Chr15:44584003

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009612

NM_025137.4(SPG11):c.4002-2A>C

SNV
Germline

Chr15:44596945

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009621

NM_025137.4(SPG11):c.3146-1G>C

SNV
Germline

Chr15:44610986

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009625

NM_025137.4(SPG11):c.3039-1G>A

SNV
Germline

Chr15:44613537

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009626

NM_025137.4(SPG11):c.2863G>T (p.Glu955Ter)

SNV
Germline

Chr15:44615538

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009629

NM_025137.4(SPG11):c.1820C>G (p.Ser607Ter)

SNV
Germline

Chr15:44629304

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005009632

NM_001368809.2(AMPD2):c.1782G>A (p.Trp594Ter)

SNV
Germline

Chr1:109629410

Likely pathogenic

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9

Criteria Provided
Single Submitter

1 SubmittersRCV005006767

NM_015915.5(ATL1):c.940G>T (p.Glu314Ter)

SNV
Germline

Chr14:50620676

Likely pathogenic

Hereditary spastic paraplegia 3A
Neuropathy, hereditary sensory, type 1D

Criteria Provided
Single Submitter

1 SubmittersRCV005005637

NM_001368809.2(AMPD2):c.1984-2A>G

SNV
Germline

Chr1:109630231

Likely pathogenic

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9

Criteria Provided
Single Submitter

1 SubmittersRCV005006793

NM_015346.4(ZFYVE26):c.7129-2A>T

SNV
Germline

Chr14:67753768

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005007235

NM_015346.4(ZFYVE26):c.6850G>T (p.Glu2284Ter)

SNV
Germline

Chr14:67755187

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005007236

NM_015346.4(ZFYVE26):c.5654-2A>G

SNV
Germline

Chr14:67767842

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005005678

NM_015346.4(ZFYVE26):c.4569+1G>T

SNV
Germline

Chr14:67781332

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005005679

NM_015346.4(ZFYVE26):c.3929C>G (p.Ser1310Ter)

SNV
Germline

Chr14:67783223

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005007238

NM_015346.4(ZFYVE26):c.3673C>T (p.Gln1225Ter)

SNV
Germline

Chr14:67783479

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005005680

NM_015346.4(ZFYVE26):c.887-1G>A

SNV
Germline

Chr14:67806676

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005005682

NM_003119.4(SPG7):c.987+2T>C

SNV
Germline

Chr16:89530810

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005017895

NM_003119.4(SPG7):c.1498C>T (p.Gln500Ter)

SNV
Germline

Chr16:89546706

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005017896

NM_003119.4(SPG7):c.2089C>T (p.Gln697Ter)

SNV
Germline

Chr16:89553946

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005017897

NM_003119.4(SPG7):c.2181+1G>T

SNV
Germline

Chr16:89554564

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005017898

NM_003119.4(SPG7):c.2181+5G>A

SNV
Germline

Chr16:89554568

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005010072

NM_014844.5(TECPR2):c.951+2T>G

SNV
Germline

Chr14:102425293

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005006993

NM_014844.5(TECPR2):c.1084+2T>C

SNV
Germline

Chr14:102428384

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005006994

NM_014844.5(TECPR2):c.2661G>A (p.Trp887Ter)

SNV
Germline

Chr14:102440518

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005007000

NM_014844.5(TECPR2):c.3502G>T (p.Glu1168Ter)

SNV
Germline

Chr14:102452489

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005007003

NM_014844.5(TECPR2):c.3641-2A>G

SNV
Germline

Chr14:102465139

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005007004

NM_014844.5(TECPR2):c.3790-2A>C

SNV
Germline

Chr14:102496977

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005007005

NM_001368809.2(AMPD2):c.91+1G>T

SNV
Germline

Chr1:109621267

Likely pathogenic

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9

Criteria Provided
Single Submitter

1 SubmittersRCV005006698

NM_004820.5(CYP7B1):c.1108C>T (p.Arg370Cys)

SNV
Germline

Chr8:64604807

Likely pathogenic

Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3

Criteria Provided
Single Submitter

1 SubmittersRCV005041372

NM_001122955.4(BSCL2):c.1048C>T (p.Arg350Ter)

SNV
Germline

Chr11:62691099

Likely pathogenic

Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C

Criteria Provided
Single Submitter

1 SubmittersRCV005050867

NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)

SNV
Germline

Chr11:62691391

Conflicting classifications of pathogenicity

Congenital generalized lipodystrophy type 2
Severe neurodegenerative syndrome with lipodystrophy
Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17
Charcot-Marie-Tooth disease type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005050869 RCV005105378

NM_001122955.4(BSCL2):c.864A>G (p.Arg288=)

SNV
Germline

Chr11:62691421

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005050871 RCV005311163

NM_001122955.4(BSCL2):c.766-1G>A

SNV
Germline

Chr11:62692474

Likely pathogenic

Hereditary spastic paraplegia 17
Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2
Neuronopathy, distal hereditary motor, type 5C

Criteria Provided
Single Submitter

1 SubmittersRCV005050876

NM_014946.4(SPAST):c.1494G>T (p.Arg498Ser)

SNV
Germline

Chr2:32141904

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005000723 RCV006484562

NM_025137.4(SPG11):c.5358G>A (p.Glu1786=)

SNV
Germline

Chr15:44584322

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005000833 RCV006484563

NM_001371279.1(REEP1):c.123C>G (p.Tyr41Ter)

SNV
Unknown

Chr2:86264024

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV005002102

NM_001371279.1(REEP1):c.58G>T (p.Ala20Ser)

SNV
Germline

Chr2:86282217

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV005052337

NM_000533.5(PLP1):c.762+5G>A

SNV
Germline

ChrX:103789403

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005052413 RCV005105385

NM_000533.5(PLP1):c.4+1G>T

SNV
Germline

ChrX:103777000

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005065558

NM_025137.4(SPG11):c.2068-3T>C

SNV
Germline

Chr15:44626510

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005072011 RCV006445026

NM_014946.4(SPAST):c.19C>T (p.Arg7Ter)

SNV
Germline

Chr2:32063850

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005070389

NM_001166114.2(PNPLA6):c.233-2A>G

SNV
Germline

Chr19:7536189

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV005075728

NM_020944.3(GBA2):c.1365G>C (p.Trp455Cys)

SNV
Germline

Chr9:35740042

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 46

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005066101 RCV005603905

NM_015915.5(ATL1):c.990+20A>G

SNV
Germline

Chr14:50620746

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005086622 RCV005407385

NM_001244008.2(KIF1A):c.3203-1G>A

SNV
Germline

Chr2:240745910

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV005088566

NM_014946.4(SPAST):c.1099-2A>G

SNV
Germline

Chr2:32126946

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005118594

NM_001776.6(ENTPD1):c.813+2C>G

SNV
Germline

Chr10:95845598

Likely pathogenic

Hereditary spastic paraplegia 64

Criteria Provided
Single Submitter

1 SubmittersRCV005120248

NM_002361.4(MAG):c.1616+1G>A

SNV
Germline

Chr19:35310644

Likely pathogenic

Hereditary spastic paraplegia 75

Criteria Provided
Single Submitter

1 SubmittersRCV005123688

NM_001371279.1(REEP1):c.106-1G>A

SNV
Germline

Chr2:86264042

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV005128156

NM_015915.5(ATL1):c.757G>C (p.Val253Leu)

SNV
Germline

Chr14:50614406

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005134387

NM_000533.5(PLP1):c.220G>T (p.Gly74Ter)

SNV
Germline

ChrX:103786493

Pathogenic

Hereditary spastic paraplegia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005140742

NM_025137.4(SPG11):c.7000-1G>A

SNV
Germline

Chr15:44564699

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV005136325

NM_015214.3(DDHD2):c.344G>A (p.Trp115Ter)

SNV
Germline

Chr8:38234517

Pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005136737

NM_001166114.2(PNPLA6):c.1974C>A (p.Tyr658Ter)

SNV
Germline

Chr19:7550544

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV005135735

NM_025137.4(SPG11):c.1372C>T (p.Gln458Ter)

SNV
Germline

Chr15:44651575

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV005153937

NM_025137.4(SPG11):c.2950G>T (p.Glu984Ter)

SNV
Germline

Chr15:44615451

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV005157320

NM_001199753.2(CPT1C):c.1450-2A>C

SNV
Germline

Chr19:49708721

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV005175386

NM_025137.4(SPG11):c.668-1G>A

SNV
Germline

Chr15:44657297

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV005167450

NM_014844.5(TECPR2):c.949C>T (p.Gln317Ter)

SNV
Germline

Chr14:102425289

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005177926

NM_025137.4(SPG11):c.3520+1G>A

SNV
Germline

Chr15:44606024

Likely pathogenic

Hereditary spastic paraplegia 11
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005171339 RCV005937912

NM_025137.4(SPG11):c.3039-1G>T

SNV
Germline

Chr15:44613537

Likely pathogenic

Hereditary spastic paraplegia 11
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005181117 RCV005937948

NM_001351169.2(NT5C2):c.115C>T (p.Arg39Ter)

SNV
Germline

Chr10:103139466

Pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005179647

NM_031448.6(C19orf12):c.161-2A>T

SNV
Germline

Chr19:29702979

Likely pathogenic

Hereditary spastic paraplegia 43

Criteria Provided
Single Submitter

1 SubmittersRCV005183616

NM_014946.4(SPAST):c.1232T>G (p.Leu411Ter)

SNV
Germline

Chr2:32128466

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005203385

NM_001166114.2(PNPLA6):c.715-1G>A

SNV
Germline

Chr19:7540629

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV005203769

NM_014946.4(SPAST):c.1480G>T (p.Glu494Ter)

SNV
Germline

Chr2:32137175

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005205023

NM_015915.5(ATL1):c.1008T>G (p.Tyr336Ter)

SNV
Germline

Chr14:50621860

Pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV005207653

NM_014946.4(SPAST):c.131C>A (p.Ser44Ter)

SNV
Germline

Chr2:32063962

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005198116

NM_014946.4(SPAST):c.1504A>T (p.Lys502Ter)

SNV
Germline

Chr2:32141914

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005198120

NM_014946.4(SPAST):c.1687+2T>A

SNV
Germline

Chr2:32145009

Pathogenic

Hereditary spastic paraplegia 4
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005198121 RCV006437263

NM_014946.4(SPAST):c.1728+2T>C

SNV
Germline

Chr2:32147260

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005198122

NM_001166114.2(PNPLA6):c.3501G>A (p.Trp1167Ter)

SNV
Germline

Chr19:7558953

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV005206512

NM_001244008.2(KIF1A):c.4319-1G>A

SNV
Germline

Chr2:240723559

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV005210911

NM_001368809.2(AMPD2):c.861-2A>G

SNV
Germline

Chr1:109627427

Likely pathogenic

Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9

Criteria Provided
Single Submitter

1 SubmittersRCV005211309

NM_001244008.2(KIF1A):c.430-2A>G

SNV
Germline

Chr2:240786515

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV005212777

NM_001244008.2(KIF1A):c.4796G>C (p.Gly1599Ala)

SNV
Germline

Chr2:240720986

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005226373 RCV005241144

NM_001244008.2(KIF1A):c.3805C>T (p.Leu1269Phe)

SNV
Germline

Chr2:240740309

Conflicting classifications of pathogenicity

not specified
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005241145 RCV005228627

NM_001010867.4(IBA57):c.339C>G (p.Tyr113Ter)

SNV
Germline

Chr1:228166155

Pathogenic

Hereditary spastic paraplegia 74
Multiple mitochondrial dysfunctions syndrome 3
Hereditary spastic paraplegia 74

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005224202 RCV006706506

NM_001244008.2(KIF1A):c.802G>T (p.Gly268Trp)

SNV
Germline

Chr2:240783106

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV005211822

NM_001244008.2(KIF1A):c.745C>A (p.Leu249Met)

SNV
Germline

Chr2:240783792

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV005211823

NM_001244008.2(KIF1A):c.208C>A (p.Gln70Lys)

SNV
Germline

Chr2:240788206

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV005211829

NM_001244008.2(KIF1A):c.40C>G (p.Pro14Ala)

SNV
Germline

Chr2:240797713

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV005211831

NM_001244008.2(KIF1A):c.3750-2A>G

SNV
Germline

Chr2:240740366

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV005219906

NM_014846.4(WASHC5):c.3163C>T (p.Gln1055Ter)

SNV
Germline

Chr8:125037255

Pathogenic

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

1 SubmittersRCV005225094

NM_001244008.2(KIF1A):c.1217C>A (p.Ala406Asp)

SNV
Germline

Chr2:240771095

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005224547 RCV005393010 RCV005244116

NM_015915.5(ATL1):c.1410G>A (p.Leu470=)

SNV
Germline

Chr14:50628321

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 3A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005227475 RCV006567131

NM_002361.4(MAG):c.337G>A (p.Gly113Arg)

SNV
Germline

Chr19:35295903

Pathogenic

Hereditary spastic paraplegia 75

No Assertion Criteria Provided

1 SubmittersRCV005215811

NM_001166114.2(PNPLA6):c.1828C>T (p.Gln610Ter)

SNV
Germline

Chr19:7550311

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV005233203

NM_001166114.2(PNPLA6):c.3808C>T (p.Arg1270Cys)

SNV
Germline

Chr19:7560756

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV005233204

NM_001244008.2(KIF1A):c.935C>T (p.Thr312Ile)

SNV
Germline

Chr2:240775874

Likely pathogenic

Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV005233253

NM_015214.3(DDHD2):c.1396G>T (p.Glu466Ter)

SNV
Germline

Chr8:38251963

Likely pathogenic

Hereditary spastic paraplegia 54

Criteria Provided
Single Submitter

1 SubmittersRCV005250998

NM_001776.6(ENTPD1):c.967C>T (p.Gln323Ter)

SNV
Germline

Chr10:95847599

Pathogenic

Hereditary spastic paraplegia 64

Criteria Provided
Single Submitter

1 SubmittersRCV005252354

NM_001776.6(ENTPD1):c.262+1G>T

SNV
Germline

Chr10:95839809

Likely pathogenic

Hereditary spastic paraplegia 64

Criteria Provided
Single Submitter

1 SubmittersRCV005253398

NM_001776.6(ENTPD1):c.144+1G>A

SNV
Germline

Chr10:95823365

Likely pathogenic

Hereditary spastic paraplegia 64

Criteria Provided
Single Submitter

1 SubmittersRCV005253486

NM_024306.5(FA2H):c.362A>G (p.Lys121Arg)

SNV
Germline

Chr16:74740024

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

1 SubmittersRCV005255268

NM_014855.3(AP5Z1):c.805C>T (p.Gln269Ter)

SNV
Germline

Chr7:4784922

Pathogenic/Likely pathogenic

Macular dystrophy with or without extraocular features
Hereditary spastic paraplegia 48

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005256449 RCV006624998

NM_183075.3(CYP2U1):c.1307T>C (p.Ile436Thr)

SNV
Germline

Chr4:107949368

Pathogenic

Hereditary spastic paraplegia 56

No Assertion Criteria Provided

1 SubmittersRCV005257906

NM_014855.3(AP5Z1):c.1487G>A (p.Trp496Ter)

SNV
Germline

Chr7:4788186

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

1 SubmittersRCV005360212

NM_001160148.2(DDHD1):c.1762C>T (p.Arg588Ter)

SNV
Germline

Chr14:53062947

Likely pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

1 SubmittersRCV005360397

NM_001776.6(ENTPD1):c.17-2A>G

SNV
Germline

Chr10:95823235

Likely pathogenic

Hereditary spastic paraplegia 64

Criteria Provided
Single Submitter

1 SubmittersRCV005365662

NM_007175.8(ERLIN2):c.107+2T>C

SNV
Germline

Chr8:37738031

Likely pathogenic

Hereditary spastic paraplegia 18

Criteria Provided
Single Submitter

1 SubmittersRCV005360451

NM_025137.4(SPG11):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr15:44657213

Likely pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005356832

NM_004820.5(CYP7B1):c.1249C>G (p.Arg417Gly)

SNV
Germline

Chr8:64596914

Likely pathogenic

Hereditary spastic paraplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005408402

NM_001122955.4(BSCL2):c.280C>T (p.Gln94Ter)

SNV
Germline

Chr11:62705425

Likely pathogenic

Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 17

Criteria Provided
Single Submitter

1 SubmittersRCV005410106

NM_004820.5(CYP7B1):c.1314C>G (p.Tyr438Ter)

SNV
Germline

Chr8:64596849

Likely pathogenic

Hereditary spastic paraplegia 5A

Criteria Provided
Single Submitter

1 SubmittersRCV005412082

NM_014946.4(SPAST):c.307T>C (p.Ser103Pro)

SNV
Germline

Chr2:32064138

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005496494 RCV006479960

NM_003119.4(SPG7):c.1696G>T (p.Glu566Ter)

SNV
Germline

Chr16:89550526

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005600609

NM_004722.4(AP4M1):c.351+1G>A

SNV
Germline

Chr7:100102961

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

1 SubmittersRCV005620329

NM_183075.3(CYP2U1):c.491-2A>G

SNV
Germline

Chr4:107944968

Likely pathogenic

Hereditary spastic paraplegia 56

No Assertion Criteria Provided

1 SubmittersRCV006444392

NM_014844.5(TECPR2):c.911G>A (p.Trp304Ter)

SNV
Germline

Chr14:102425251

Likely pathogenic

Hereditary spastic paraplegia 49

No Assertion Criteria Provided

1 SubmittersRCV006444436

NM_001371279.1(REEP1):c.225G>A (p.Trp75Ter)

SNV
Germline

Chr2:86254772

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV005627204

NM_014946.4(SPAST):c.1364A>G (p.His455Arg)

SNV
Germline

Chr2:32136919

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005629890

NM_014844.5(TECPR2):c.529C>T (p.Gln177Ter)

SNV
Germline

Chr14:102414684

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005631664

NM_015346.4(ZFYVE26):c.2246C>G (p.Ser749Ter)

SNV
Germline

Chr14:67798016

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005631723

NM_014844.5(TECPR2):c.3945C>A (p.Cys1315Ter)

SNV
Unknown

Chr14:102497583

Pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005637814

NM_014946.4(SPAST):c.1265T>A (p.Leu422Ter)

SNV
Germline

Chr2:32136582

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005645940

NM_014946.4(SPAST):c.758T>C (p.Met253Thr)

SNV
Germline

Chr2:32114713

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005743051 RCV006489705

NM_015346.4(ZFYVE26):c.4675-1G>A

SNV
Germline

Chr14:67778249

Likely pathogenic

Hereditary spastic paraplegia 15

Criteria Provided
Single Submitter

1 SubmittersRCV005859693

NM_014844.5(TECPR2):c.348+1G>A

SNV
Unknown

Chr14:102407467

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV005861976

NM_003119.4(SPG7):c.2182-1009C>T

SNV
Unknown

Chr16:89555878

Pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV005862601

NM_001371279.1(REEP1):c.293C>G (p.Ser98Ter)

SNV
Germline

Chr2:86254704

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV005882356

NM_025137.4(SPG11):c.5116A>T (p.Lys1706Ter)

SNV
Germline

Chr15:44585641

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV005882393

NM_007347.5(AP4E1):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr15:50915544

Pathogenic

Hereditary spastic paraplegia 51

Criteria Provided
Single Submitter

1 SubmittersRCV005882444

NM_001253852.3(AP4B1):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr1:113902786

Likely pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

1 SubmittersRCV005884265

NM_001253852.3(AP4B1):c.1162G>T (p.Glu388Ter)

SNV
Germline

Chr1:113898754

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

1 SubmittersRCV005884337

NM_014946.4(SPAST):c.1160G>T (p.Gly387Val)

SNV
Germline

Chr2:32127009

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV005884384

NM_025137.4(SPG11):c.7151+2T>G

SNV
Germline

Chr15:44564545

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV005882893

NM_001166114.2(PNPLA6):c.1914G>A (p.Trp638Ter)

SNV
Germline

Chr19:7550397

Likely pathogenic

Laurence-Moon syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Hereditary spastic paraplegia 39
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006257411

NM_001351169.2(NT5C2):c.1456C>A (p.His486Asn)

SNV
Germline

Chr10:103089902

Likely pathogenic

Hereditary spastic paraplegia 45

Criteria Provided
Single Submitter

1 SubmittersRCV006257528

NM_015915.5(ATL1):c.1033A>G (p.Lys345Glu)

SNV
Germline

Chr14:50621885

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV006257699

NM_014946.4(SPAST):c.1223C>A (p.Ala408Asp)

SNV
Germline

Chr2:32128457

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006258076

NM_014946.4(SPAST):c.1617-2A>C

SNV
Germline

Chr2:32144935

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006258077

NM_004820.5(CYP7B1):c.1351G>A (p.Gly451Ser)

SNV
Germline

Chr8:64596812

Likely pathogenic

Hereditary spastic paraplegia 5A

Criteria Provided
Single Submitter

1 SubmittersRCV006258319

NM_006087.4(TUBB4A):c.898A>G (p.Met300Val)

SNV
Germline

Chr19:6495601

Likely pathogenic

Hereditary spastic paraplegia

No Assertion Criteria Provided

1 SubmittersRCV006262297

NM_001199753.2(CPT1C):c.733C>T (p.Arg245Ter)

SNV
Germline

Chr19:49704749

Likely pathogenic

Hereditary spastic paraplegia 73

Criteria Provided
Single Submitter

1 SubmittersRCV006270275

NM_014946.4(SPAST):c.1685G>C (p.Arg562Pro)

SNV
Germline

Chr2:32145005

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006270296

NM_015915.5(ATL1):c.829G>C (p.Ala277Pro)

SNV
Germline

Chr14:50614478

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV006270304

NM_024306.5(FA2H):c.704G>A (p.Arg235His)

SNV
Germline

Chr16:74719070

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 35
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006275945 RCV006475427

NM_003119.4(SPG7):c.1031G>A (p.Gly344Asp)

SNV
Germline

Chr16:89531947

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

3 SubmittersRCV006437352 RCV006480366

NM_002361.4(MAG):c.1273C>T (p.Arg425Ter)

SNV
Germline

Chr19:35309915

Pathogenic

Hereditary spastic paraplegia 75

Criteria Provided
Single Submitter

1 SubmittersRCV006498156

NM_025137.4(SPG11):c.3971G>A (p.Trp1324Ter)

SNV
Germline

Chr15:44598295

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV006492215

NM_025137.4(SPG11):c.4393C>T (p.Gln1465Ter)

SNV
Germline

Chr15:44596124

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV006491221

NM_014844.5(TECPR2):c.220-2A>T

SNV
Germline

Chr14:102407336

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV006502103

NM_015915.5(ATL1):c.998T>A (p.Ile333Lys)

SNV
Germline

Chr14:50621850

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV006509862

NM_014946.4(SPAST):c.1634C>A (p.Ser545Ter)

SNV
Germline

Chr2:32144954

Pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006505737

NM_015915.5(ATL1):c.1025C>T (p.Pro342Leu)

SNV
Germline

Chr14:50621877

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV006505147

NM_015915.5(ATL1):c.592A>G (p.Arg198Gly)

SNV
Germline

Chr14:50595594

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV006505148

NM_004722.4(AP4M1):c.912G>A (p.Trp304Ter)

SNV
Germline

Chr7:100105522

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

1 SubmittersRCV006503002

NM_001166114.2(PNPLA6):c.2695C>T (p.Arg899Ter)

SNV
Germline

Chr19:7554953

Pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV006503175

NM_001371279.1(REEP1):c.105+2T>C

SNV
Germline

Chr2:86282168

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV006529894

NM_001166114.2(PNPLA6):c.143A>G (p.Gln48Arg)

SNV
Germline

Chr19:7535931

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV006532129

NM_014855.3(AP5Z1):c.1311+2T>C

SNV
Germline

Chr7:4786430

Likely pathogenic

Hereditary spastic paraplegia 48

Criteria Provided
Single Submitter

1 SubmittersRCV006527099

NM_014946.4(SPAST):c.1350A>C (p.Arg450Ser)

SNV
Germline

Chr2:32136905

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006518022

NM_014946.4(SPAST):c.1478A>C (p.Asp493Ala)

SNV
Germline

Chr2:32137173

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006536896

NM_014946.4(SPAST):c.1141T>C (p.Phe381Leu)

SNV
Germline

Chr2:32126990

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006534103

NM_014946.4(SPAST):c.1493G>T (p.Arg498Met)

SNV
Germline

Chr2:32137188

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006534109

NM_001371279.1(REEP1):c.105+1G>T

SNV
Germline

Chr2:86282169

Pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV006534774

NM_025137.4(SPG11):c.5405G>A (p.Trp1802Ter)

SNV
Germline

Chr15:44584275

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV006555155

NM_024306.5(FA2H):c.1039+2T>G

SNV
Germline

Chr16:74716345

Likely pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

1 SubmittersRCV006555156

NM_025137.4(SPG11):c.3039-2A>C

SNV
Germline

Chr15:44613538

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV006572349

NM_001244008.2(KIF1A):c.864+2T>G

SNV
Germline

Chr2:240783042

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV006590987

NM_001244008.2(KIF1A):c.203C>A (p.Ala68Glu)

SNV
Germline

Chr2:240788211

Pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV006599641

NM_001244008.2(KIF1A):c.5022-1G>A

SNV
Germline

Chr2:240719199

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV006602221

NM_001368809.2(AMPD2):c.2007C>A (p.Tyr669Ter)

SNV
Germline

Chr1:109630256

Pathogenic

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63

Criteria Provided
Single Submitter

1 SubmittersRCV006598718

NM_001244008.2(KIF1A):c.864+1G>T

SNV
Germline

Chr2:240783043

Likely pathogenic

Neuropathy, hereditary sensory, type 2C
Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30

Criteria Provided
Single Submitter

1 SubmittersRCV006595044

NM_014846.4(WASHC5):c.2771-2A>G

SNV
Germline

Chr8:125043906

Likely pathogenic

Ritscher-Schinzel syndrome
Hereditary spastic paraplegia 8

Criteria Provided
Single Submitter

1 SubmittersRCV006592713

NM_001368809.2(AMPD2):c.1080+2T>G

SNV
Germline

Chr1:109627905

Likely pathogenic

Pontocerebellar hypoplasia type 9
Hereditary spastic paraplegia 63

Criteria Provided
Single Submitter

1 SubmittersRCV006596383

NM_001244008.2(KIF1A):c.593C>A (p.Ser198Ter)

SNV
Germline

Chr2:240786350

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV006604980

NM_001244008.2(KIF1A):c.274T>C (p.Cys92Arg)

SNV
Germline

Chr2:240788140

Pathogenic

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9

Criteria Provided
Single Submitter

1 SubmittersRCV006597437

NM_004820.5(CYP7B1):c.122+1G>A

SNV
Germline

Chr8:64798465

Likely pathogenic

Hereditary spastic paraplegia 5A
Congenital bile acid synthesis defect 3

Criteria Provided
Single Submitter

1 SubmittersRCV006606057

NM_025137.4(SPG11):c.5887A>T (p.Lys1963Ter)

SNV
Germline

Chr15:44575021

Pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV006623544

NM_001166114.2(PNPLA6):c.3093+1G>A

SNV
Germline

Chr19:7555764

Likely pathogenic

Hereditary spastic paraplegia 39

Criteria Provided
Single Submitter

1 SubmittersRCV006623663

NM_025137.4(SPG11):c.4002-1G>C

SNV
Germline

Chr15:44596944

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV006615812

NM_001160148.2(DDHD1):c.259G>T (p.Glu87Ter)

SNV
Germline

Chr14:53152840

Pathogenic

Hereditary spastic paraplegia 28

Criteria Provided
Single Submitter

1 SubmittersRCV006630293

NM_004722.4(AP4M1):c.893T>C (p.Leu298Pro)

SNV
Unknown

Chr7:100105503

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

1 SubmittersRCV006635212

NM_001371279.1(REEP1):c.182+1G>A

SNV
Germline

Chr2:86263964

Likely pathogenic

Hereditary spastic paraplegia 31

Criteria Provided
Single Submitter

1 SubmittersRCV006636166

NM_014844.5(TECPR2):c.1002C>A (p.Cys334Ter)

SNV
Germline

Chr14:102428300

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV006643717

NM_014844.5(TECPR2):c.2094G>A (p.Trp698Ter)

SNV
Germline

Chr14:102434911

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV006643721

NM_014844.5(TECPR2):c.2392C>T (p.Gln798Ter)

SNV
Germline

Chr14:102435209

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV006643722

NM_014844.5(TECPR2):c.3076-1G>T

SNV
Germline

Chr14:102449628

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV006643727

NM_014844.5(TECPR2):c.326C>G (p.Ser109Ter)

SNV
Germline

Chr14:102407444

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV006643729

NM_014844.5(TECPR2):c.3469C>T (p.Gln1157Ter)

SNV
Germline

Chr14:102452456

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV006643730

NM_014844.5(TECPR2):c.3614G>A (p.Trp1205Ter)

SNV
Germline

Chr14:102452601

Likely pathogenic

Hereditary spastic paraplegia 49

Criteria Provided
Single Submitter

1 SubmittersRCV006643731

NM_025137.4(SPG11):c.2068-498T>G

SNV
Germline

Chr15:44627005

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV006646803

NM_004722.4(AP4M1):c.357T>A (p.Tyr119Ter)

SNV
Germline

Chr7:100103414

Likely pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

1 SubmittersRCV006684075

NM_014946.4(SPAST):c.1562T>C (p.Leu521Pro)

SNV
Germline

Chr2:32143361

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006684245

NM_003119.4(SPG7):c.377-2A>G

SNV
Germline

Chr16:89524004

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV006686398

NM_025137.4(SPG11):c.1007+1G>A

SNV
Germline

Chr15:44652128

Likely pathogenic

Hereditary spastic paraplegia 11

Criteria Provided
Single Submitter

1 SubmittersRCV006689979

NM_020944.3(GBA2):c.1410-1G>A

SNV
Germline

Chr9:35739801

Likely pathogenic

Hereditary spastic paraplegia 46

Criteria Provided
Single Submitter

1 SubmittersRCV006693908

NM_003119.4(SPG7):c.1937-2A>T

SNV
Germline

Chr16:89553792

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV006696221

NM_014946.4(SPAST):c.1158T>A (p.Asn386Lys)

SNV
Germline

Chr2:32127007

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006696832

NM_014946.4(SPAST):c.1453G>A (p.Ala485Thr)

SNV
Germline

Chr2:32137148

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006696833

NM_003119.4(SPG7):c.1402C>G (p.Pro468Ala)

SNV
Germline

Chr16:89544725

Likely pathogenic

Hereditary spastic paraplegia 7

Criteria Provided
Single Submitter

1 SubmittersRCV006699859

NM_004984.4(KIF5A):c.1819C>T (p.Gln607Ter)

SNV
Germline

Chr12:57575186

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

1 SubmittersRCV006699865

NM_015915.5(ATL1):c.1526A>C (p.Gln509Pro)

SNV
Germline

Chr14:50628437

Likely pathogenic

Hereditary spastic paraplegia 3A

Criteria Provided
Single Submitter

1 SubmittersRCV006699967

NM_014946.4(SPAST):c.1259A>C (p.Glu420Ala)

SNV
Germline

Chr2:32136576

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006703882

NM_014946.4(SPAST):c.415+2T>G

SNV
Germline

Chr2:32064248

Likely pathogenic

Hereditary spastic paraplegia 4

Criteria Provided
Single Submitter

1 SubmittersRCV006703992

NM_004722.4(AP4M1):c.974+1G>A

SNV
Germline

Chr7:100106004

Pathogenic

Hereditary spastic paraplegia 50

Criteria Provided
Single Submitter

1 SubmittersRCV006706315

NM_024306.5(FA2H):c.984C>G (p.Tyr328Ter)

SNV
Germline

Chr16:74716402

Pathogenic

Hereditary spastic paraplegia 35

Criteria Provided
Single Submitter

1 SubmittersRCV006704174

NM_001253852.3(AP4B1):c.1399G>T (p.Glu467Ter)

SNV
Germline

Chr1:113896369

Pathogenic

Hereditary spastic paraplegia 47

Criteria Provided
Single Submitter

1 SubmittersRCV006704431

NM_004984.4(KIF5A):c.758A>T (p.Lys253Met)

SNV
Germline

Chr12:57569006

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

1 SubmittersRCV006708374

NM_006080.3(SEMA3A):c.1860+1G>A

SNV
Germline

Chr7:83963204

Pathogenic

Hereditary Spastic Paraplegia (HSP)

Criteria Provided
Single Submitter

1 SubmittersRCV006708375

NM_004984.4(KIF5A):c.691G>A (p.Val231Met)

SNV
Germline

Chr12:57567595

Likely pathogenic

Hereditary spastic paraplegia 10

Criteria Provided
Single Submitter

1 SubmittersRCV006708742