Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_022089.4(ATP13A2):c.1306+5G>A	SNV Germline	Chr1:16996381	Pathogenic/Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251715	rs_786205056	3 SubmittersRCV000001278 RCV001851532 RCV004719607
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)	SNV Germline	Chr1:16996008	Pathogenic/Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome See cases Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA251716	rs_121918227	6 SubmittersRCV000001280 RCV001851533 RCV002251851 RCV004766975
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg)	SNV Germline	Chr1:16989739	Pathogenic	Kufor-Rakeb syndrome	No Assertion Criteria Provided	CA264798	rs_587777053	1 SubmittersRCV000056335
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg)	SNV Germline	Chr1:16988455	Pathogenic	Kufor-Rakeb syndrome	No Assertion Criteria Provided	CA264800	rs_144701072	1 SubmittersRCV000056336
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp)	SNV Germline	Chr1:16997107	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637367	rs_142616130	4 SubmittersRCV001099189 RCV004777569 RCV002513784 RCV005286023
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)	SNV Germline	Chr1:16988161	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases ATP13A2-related disorder Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis	Criteria Provided Conflicting Classifications	CA230914	rs_55708915	11 SubmittersRCV000116438 RCV000550501 RCV000785011 RCV001097255 RCV002313855 RCV004549579 RCV003483485
NM_022089.4(ATP13A2):c.993C>T (p.Ala331=)	SNV Germline	Chr1:17000057	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Conflicting Classifications	CA239659	rs_568367953	2 SubmittersRCV000174159 RCV001439529
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)	SNV Germline	Chr1:17000107	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome not specified	Criteria Provided Conflicting Classifications	CA276126	rs_150519745	3 SubmittersRCV000191065 RCV002514094 RCV004782296
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)	SNV Germline	Chr1:16988138	Conflicting classifications of pathogenicity	not specified Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases ATP13A2-related disorder Gastric cancer Sarcoma Melanoma	Criteria Provided Conflicting Classifications	CA205846	rs_144557304	11 SubmittersRCV000192784 RCV000316626 RCV000725226 RCV001085655 RCV002314786 RCV004553047 RCV005892242 RCV005892241 RCV005892243
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln)	SNV Germline	Chr1:16996255	Conflicting classifications of pathogenicity	not specified Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 ATP13A2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209120	rs_138546275	4 SubmittersRCV000194744 RCV001327469 RCV004553046 RCV005286043
NM_022089.4(ATP13A2):c.106-8G>A	SNV Germline	Chr1:17005564	Conflicting classifications of pathogenicity	not specified Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA207386	rs_200587951	9 SubmittersRCV000193708 RCV000307211 RCV000658501 RCV001086028
NM_022089.4(ATP13A2):c.841-4A>G	SNV Germline	Chr1:17000316	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637465	rs_112549590	3 SubmittersRCV000298189 RCV001459926 RCV002446527
NM_022089.4(ATP13A2):c.846C>T (p.Ser282=)	SNV Germline	Chr1:17000307	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA637462	rs_762440899	2 SubmittersRCV000307973 RCV002059253
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)	SNV Germline	Chr1:16990132	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636855	rs_747785443	5 SubmittersRCV000291217 RCV001531612 RCV001850498 RCV002450841
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=)	SNV Germline	Chr1:16990133	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA10608215	rs_886045580	2 SubmittersRCV000345890 RCV002059356
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln)	SNV Germline	Chr1:16990254	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636888	rs_766899425	4 SubmittersRCV000342536 RCV002059357 RCV002285304 RCV002519410
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=)	SNV Germline	Chr1:16996069	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided	Criteria Provided Conflicting Classifications	CA637203	rs_750600448	3 SubmittersRCV000333655 RCV000874247 RCV003409442
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)	SNV Germline	Chr1:16996298	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases ATP13A2-related disorder	Criteria Provided Conflicting Classifications	CA637266	rs_149372969	9 SubmittersRCV000383438 RCV000658499 RCV001080128 RCV002314040 RCV004549648
NM_022089.4(ATP13A2):c.*155C>T	SNV Germline	Chr1:16986066	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided	Criteria Provided Conflicting Classifications	CA636415	rs_762111359	3 SubmittersRCV000285239 RCV002502163 RCV003409440
NM_022089.4(ATP13A2):c.*130C>T	SNV Germline	Chr1:16986091	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Congenital cerebellar hypoplasia	Criteria Provided Conflicting Classifications	CA636423	rs_189334432	9 SubmittersRCV000317055 RCV000513062 RCV000768152 RCV005625525
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)	SNV Germline	Chr1:16986335	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases ATP13A2-related disorder not specified	Criteria Provided Conflicting Classifications	CA636486	rs_377703085	9 SubmittersRCV000403466 RCV000875471 RCV001660565 RCV002450840 RCV004549644 RCV005434775
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=)	SNV Germline	Chr1:16986571	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636530	rs_756650754	3 SubmittersRCV000308299 RCV000542280 RCV002311411
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)	SNV Germline	Chr1:16986847	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases Kufor-Rakeb syndrome	Criteria Provided Conflicting Classifications	CA636581	rs_377431904	4 SubmittersRCV000527414 RCV002321972 RCV000396839
NM_022089.4(ATP13A2):c.2609+10C>T	SNV Germline	Chr1:16989681	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 ATP13A2-related disorder	Criteria Provided Conflicting Classifications	CA636776	rs_759204814	3 SubmittersRCV000294679 RCV002061160 RCV004549645
NM_022089.4(ATP13A2):c.2252-11A>G	SNV Germline	Chr1:16990298	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA636902	rs_775547036	2 SubmittersRCV000298439 RCV003765709
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)	SNV Germline	Chr1:16992301	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA637030	rs_369722835	4 SubmittersRCV000353211 RCV000877932 RCV002411185 RCV005641577
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)	SNV Germline	Chr1:16996293	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases Condition: not provided Lung cancer Colorectal cancer	Criteria Provided Conflicting Classifications	CA637264	rs_764435162	6 SubmittersRCV000326531 RCV000811676 RCV002379159 RCV004808668 RCV005891521 RCV005891520
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)	SNV Germline	Chr1:16996489	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637315	rs_148026506	6 SubmittersRCV000377514 RCV000554838 RCV001528806 RCV002314041
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu)	SNV Germline	Chr1:16997052	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided	Criteria Provided Conflicting Classifications	CA637350	rs_769588580	3 SubmittersRCV000405175 RCV002522072 RCV005055840
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)	SNV Germline	Chr1:17000099	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA637411	rs_148391179	9 SubmittersRCV000368117 RCV000874914 RCV001551772 RCV002374494 RCV006436721
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=)	SNV Germline	Chr1:16986490	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA636514	rs_773914880	2 SubmittersRCV000352678 RCV001850497
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=)	SNV Germline	Chr1:16987177	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA636659	rs_138212767	2 SubmittersRCV000261475 RCV003114463
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=)	SNV Germline	Chr1:16988465	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636752	rs_199994961	4 SubmittersRCV000386189 RCV000557434 RCV001594931 RCV002429245
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu)	SNV Germline	Chr1:16990276	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases ATP13A2-related disorder	Criteria Provided Conflicting Classifications	CA636893	rs_200924194	6 SubmittersRCV000395373 RCV001048930 RCV001329888 RCV001660566 RCV002317825 RCV004549646
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)	SNV Germline	Chr1:16996448	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases Condition: not provided Melanoma	Criteria Provided Conflicting Classifications	CA637304	rs_190746040	6 SubmittersRCV000291316 RCV001243069 RCV002392826 RCV004791387 RCV005891522
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)	SNV Germline	Chr1:16997087	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637357	rs_148970081	4 SubmittersRCV000298225 RCV000641076 RCV001553276 RCV002314042
NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=)	SNV Germline	Chr1:16997150	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA637380	rs_750819290	3 SubmittersRCV000336881 RCV004546477 RCV006555801
NM_022089.4(ATP13A2):c.3111C>T (p.Ala1037=)	SNV Germline	Chr1:16986929	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA636596	rs_538236343	2 SubmittersRCV000265102 RCV006555800
NM_022089.4(ATP13A2):c.2331C>T (p.His777=)	SNV Germline	Chr1:16990208	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636876	rs_144708504	6 SubmittersRCV000301718 RCV000593213 RCV001081870 RCV002446539
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)	SNV Germline	Chr1:16992322	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases ATP13A2-related disorder	Criteria Provided Conflicting Classifications	CA637033	rs_200916673	8 SubmittersRCV000263146 RCV000658498 RCV001080875 RCV002317826 RCV004549647
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=)	SNV Germline	Chr1:17004773	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided	Criteria Provided Conflicting Classifications	CA637653	rs_140631323	3 SubmittersRCV000275889 RCV000969807 RCV004808669
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)	SNV Germline	Chr1:16986346	Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter	CA16043957	rs_1057519289	3 SubmittersRCV000415542 RCV002502449 RCV004767250
NM_022089.4(ATP13A2):c.364C>T (p.Gln122Ter)	SNV Germline	Chr1:17004805	Pathogenic/Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	No Assertion Criteria Provided	CA16043960	rs_1057519292	2 SubmittersRCV000415546 RCV004767251
NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter)	SNV Germline	Chr1:16996262	Pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter	CA16043961	rs_1057519293	3 SubmittersRCV000415578 RCV004767252
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)	SNV Germline	Chr1:17005465	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637734	rs_367745335	3 SubmittersRCV000431349 RCV002059821 RCV002418306
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)	SNV Germline	Chr1:16986292	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636474	rs_201610681	6 SubmittersRCV000512743 RCV000815305 RCV002527395
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr)	SNV Germline	Chr1:16991749	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome not specified Condition: not provided Kufor-Rakeb syndrome	Criteria Provided Conflicting Classifications	CA636930	rs_147277743	5 SubmittersRCV000546370 RCV003155230 RCV004791549 RCV005367393
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)	SNV Germline	Chr1:16992345	Pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA637037	rs_773246271	5 SubmittersRCV000762864 RCV001329887 RCV002223864 RCV004965558
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter)	SNV Germline	Chr1:16989961	Pathogenic	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Multiple Submitters No Conflicts	CA18629099	rs_866035312	2 SubmittersRCV000592144 RCV002532645
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)	SNV Germline	Chr1:16996059	Pathogenic	Inborn genetic diseases Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Multiple Submitters No Conflicts	CA338252192	rs_1303653650	2 SubmittersRCV000624309 RCV003767821
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr)	SNV Germline	Chr1:17000495	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA637500	rs_199661793	4 SubmittersRCV000641069 RCV001569523
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser)	SNV Germline	Chr1:16990135	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636856	rs_752487771	3 SubmittersRCV000641063 RCV001766378 RCV004965624
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)	SNV Germline	Chr1:16993667	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA637114	rs_369863178	6 SubmittersRCV000658183 RCV001101082 RCV001084955 RCV002397337 RCV005240408
NM_022089.4(ATP13A2):c.477+2T>G	SNV Germline	Chr1:17004690	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Neurodegeneration with brain iron accumulation Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA637638	rs_758014228	9 SubmittersRCV000658500 RCV000702718 RCV001269095 RCV002317906
NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)	SNV Germline	Chr1:16986291	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome not specified Kufor-Rakeb syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636472	rs_544885605	6 SubmittersRCV000675886 RCV000805352 RCV004997136 RCV005357898 RCV004026141
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)	SNV Germline	Chr1:16986554	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Kufor-Rakeb syndrome Inborn genetic diseases ATP13A2-related disorder	Criteria Provided Conflicting Classifications	CA636529	rs_201756175	7 SubmittersRCV000689446 RCV001560412 RCV001098912 RCV002325371 RCV004547857
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)	SNV Germline	Chr1:17004697	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637639	rs_113643181	4 SubmittersRCV000689547 RCV001288806 RCV002544846
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser)	SNV Germline	Chr1:16986539	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636524	rs_758675397	2 SubmittersRCV000707646 RCV004026756
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)	SNV Germline	Chr1:17000494	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA637499	rs_145515028	8 SubmittersRCV000709867 RCV000761644 RCV001079927 RCV002388353 RCV006436883
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=)	SNV Germline	Chr1:16986818	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA636572	rs_372993383	3 SubmittersRCV000710713 RCV001441682
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)	SNV Germline	Chr1:16991787	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636941	rs_201883464	4 SubmittersRCV000710707 RCV001083694 RCV002317939
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)	SNV Germline	Chr1:16986235	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases ATP13A2-related disorder	Criteria Provided Conflicting Classifications	CA636456	rs_547860186	4 SubmittersRCV000878446 RCV002279497 RCV002312397 RCV004547892
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)	SNV Germline	Chr1:16992115	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636987	rs_143834546	3 SubmittersRCV001071630 RCV001759440 RCV002318334
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)	SNV Germline	Chr1:16996490	Conflicting classifications of pathogenicity	Inborn genetic diseases Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA637316	rs_377186549	3 SubmittersRCV002316090 RCV002477656
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)	SNV Germline	Chr1:16986526	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Kufor-Rakeb syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA636521	rs_115985012	6 SubmittersRCV001086688 RCV000873633 RCV001098911 RCV002313470 RCV006436891
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val)	SNV Germline	Chr1:16986611	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA636536	rs_370677966	5 SubmittersRCV001100727 RCV001205841 RCV002318164 RCV004768611
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=)	SNV Germline	Chr1:17005548	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637753	rs_368279466	3 SubmittersRCV000876022 RCV001097436 RCV002318278
NM_022089.4(ATP13A2):c.3084-10G>A	SNV Germline	Chr1:16986966	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Conflicting Classifications	CA636601	rs_368908107	2 SubmittersRCV000727909 RCV002060965
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)	SNV Germline	Chr1:16986610	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Kufor-Rakeb syndrome	Criteria Provided Conflicting Classifications	CA636534	rs_377253172	4 SubmittersRCV000728087 RCV001087477 RCV001100726
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=)	SNV Germline	Chr1:16997135	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637374	rs_55943100	3 SubmittersRCV000732655 RCV001449181 RCV002422630
NM_022089.4(ATP13A2):c.3405+9C>T	SNV Germline	Chr1:16986454	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Kufor-Rakeb syndrome Condition: not provided not specified ATP13A2-related disorder	Criteria Provided Conflicting Classifications	CA636506	rs_374766933	7 SubmittersRCV000768153 RCV001098910 RCV001556844 RCV003396334 RCV004549837
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)	SNV Germline	Chr1:16988338	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636727	rs_768674400	5 SubmittersRCV000768154 RCV002267022 RCV002440593
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)	SNV Germline	Chr1:16988444	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636747	rs_567287489	3 SubmittersRCV000768155 RCV002458374
NM_022089.4(ATP13A2):c.1039+6C>T	SNV Germline	Chr1:17000005	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided ATP13A2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637397	rs_565724504	6 SubmittersRCV000767898 RCV002061035 RCV004547959 RCV004965728
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met)	SNV Germline	Chr1:16987134	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636644	rs_764162255	2 SubmittersRCV000796885 RCV002440645
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln)	SNV Germline	Chr1:17005429	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA637722	rs_773087322	3 SubmittersRCV000807297 RCV005742106 RCV005648062
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)	SNV Germline	Chr1:17005754	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637791	rs_151117874	4 SubmittersRCV000801260 RCV001097440 RCV002458463
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=)	SNV Germline	Chr1:16992564	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome not specified	Criteria Provided Conflicting Classifications	CA637088	rs_752208167	3 SubmittersRCV000878894 RCV001101081 RCV001288805
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=)	SNV Germline	Chr1:17005753	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA637790	rs_61741838	4 SubmittersRCV001097439 RCV002064799 RCV002346025 RCV005427343
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)	SNV Germline	Chr1:16993690	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637121	rs_541385523	2 SubmittersRCV002066305 RCV002409267
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)	SNV Germline	Chr1:16997136	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637375	rs_566918264	4 SubmittersRCV001099190 RCV001430929 RCV002265912 RCV002416218
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=)	SNV Germline	Chr1:17005747	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA637788	rs_371850140	2 SubmittersRCV001097438 RCV001414389
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)	SNV Germline	Chr1:17011732	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases ATP13A2-related disorder	Criteria Provided Conflicting Classifications	CA637809	rs_549839037	5 SubmittersRCV000991571 RCV001392172 RCV002416271 RCV004553532
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met)	SNV Germline	Chr1:16996487	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637314	rs_763632781	4 SubmittersRCV000993929 RCV001644884 RCV005012425 RCV005286265
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu)	SNV Germline	Chr1:16986246	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636462	rs_372995036	5 SubmittersRCV001061799 RCV001092584 RCV005492927
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)	SNV Germline	Chr1:17004762	Conflicting classifications of pathogenicity	Inborn genetic diseases Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided	Criteria Provided Conflicting Classifications	CA637652	rs_562519835	4 SubmittersRCV002320317 RCV001062022 RCV004792700
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu)	SNV Germline	Chr1:17004813	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637660	rs_752619582	2 SubmittersRCV001036883 RCV004031008
NM_022089.4(ATP13A2):c.1845+1G>A	SNV Germline	Chr1:16992485	Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter	CA338246638	rs_2076970587	1 SubmittersRCV001059802
NM_022089.4(ATP13A2):c.558-1G>T	SNV Germline	Chr1:17002374	Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter	CA338260662	rs_2077392348	1 SubmittersRCV001095707
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His)	SNV Germline	Chr1:16989742	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636784	rs_745954026	4 SubmittersRCV001099008 RCV001856341 RCV004792720 RCV004032046
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=)	SNV Germline	Chr1:16989977	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA636825	rs_368244226	2 SubmittersRCV001099011 RCV002069664
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=)	SNV Germline	Chr1:16991795	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA636943	rs_148275181	2 SubmittersRCV001100828 RCV002067769
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)	SNV Germline	Chr1:16992378	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637046	rs_368423685	5 SubmittersRCV001101079 RCV001509024 RCV001856372 RCV003243477
NM_022089.4(ATP13A2):c.3235+15G>A	SNV Germline	Chr1:16986790	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA636567	rs_761031832	2 SubmittersRCV001100728 RCV005213457
NM_022089.4(ATP13A2):c.1307-14C>T	SNV Germline	Chr1:16996314	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA637272	rs_370771306	2 SubmittersRCV001099097 RCV002069666
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu)	SNV Germline	Chr1:16990213	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636877	rs_56170027	2 SubmittersRCV001205218 RCV005742177
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)	SNV Germline	Chr1:16986325	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA636483	rs_370421723	3 SubmittersRCV001246434 RCV003166546 RCV005642492
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys)	SNV Germline	Chr1:16989707	Conflicting classifications of pathogenicity	ATP13A2-related disorder Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636779	rs_148534162	3 SubmittersRCV001249720 RCV002570403 RCV004035293
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)	SNV Unknown	Chr1:16993721	Pathogenic/Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Multiple Submitters No Conflicts	CA338248536	rs_1264582344	2 SubmittersRCV001262240 RCV002480876
NM_022089.4(ATP13A2):c.2529+1G>A	SNV Germline	Chr1:16989886	Pathogenic/Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Multiple Submitters No Conflicts	CA636815	rs_776448394	3 SubmittersRCV001331222 RCV001863238
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)	SNV Germline	Chr1:16992323	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637034	rs_147260398	2 SubmittersRCV001365128 RCV003284271
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter)	SNV Germline	Chr1:16986904	Pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter	CA338233699	rs_1557666781	1 SubmittersRCV001388838
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)	SNV Germline	Chr1:16986263	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636466	rs_781135190	2 SubmittersRCV001461696 RCV002560369
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)	SNV Germline	Chr1:16996449	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637305	rs_768796427	6 SubmittersRCV001509025 RCV001859353 RCV001821804 RCV002384858
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)	SNV Germline	Chr1:16992019	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Multiple Submitters No Conflicts	CA338244150	rs_2076949269	2 SubmittersRCV001531613 RCV003771646
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu)	SNV Germline	Chr1:16992565	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637089	rs_758992649	3 SubmittersRCV001546605 RCV001882618 RCV002405231
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=)	SNV Germline	Chr1:16996290	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA637262	rs_775625778	2 SubmittersRCV001768938 RCV002543997
NM_022089.4(ATP13A2):c.3083+2T>C	SNV Germline	Chr1:16987044	Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter	CA636626	rs_771581490	1 SubmittersRCV002038991
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys)	SNV Germline	Chr1:16997116	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Conflicting Classifications	CA637370	rs_770576740	3 SubmittersRCV001945222
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser)	SNV Germline	Chr1:16986525	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA18625133	rs_145674970	2 SubmittersRCV001926129 RCV004970540
NM_022089.4(ATP13A2):c.1846-2A>G	SNV Germline	Chr1:16992404	Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter	CA338246592	rs_2100783138	1 SubmittersRCV002014056
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)	SNV Germline	Chr1:17002312	Pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter	CA338260014	rs_1483668823	1 SubmittersRCV001952943
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile)	SNV Germline	Chr1:16990213	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636878	rs_56170027	2 SubmittersRCV001952741 RCV002561469
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln)	SNV Germline	Chr1:16996058	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA637201	rs_560095049	3 SubmittersRCV002039844 RCV003481140 RCV005288560
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His)	SNV Germline	Chr1:16986321	Conflicting classifications of pathogenicity	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636481	rs_533548757	3 SubmittersRCV001928113 RCV005742323
NM_022089.4(ATP13A2):c.153C>T (p.His51=)	SNV Germline	Chr1:17005509	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA637744	rs_759666274	3 SubmittersRCV002074960 RCV002398255 RCV006435259
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)	SNV Germline	Chr1:16986597	Conflicting classifications of pathogenicity	Inborn genetic diseases Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Conflicting Classifications	CA636532	rs_541932176	2 SubmittersRCV002325008 RCV003099350
NM_022089.4(ATP13A2):c.1195+5G>A	SNV Germline	Chr1:16997015	Conflicting classifications of pathogenicity	Inborn genetic diseases Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA637337	rs_751551929	2 SubmittersRCV002338326 RCV003096635
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)	SNV Germline	Chr1:17002342	Conflicting classifications of pathogenicity	Inborn genetic diseases Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA338260355	rs_1466216649	2 SubmittersRCV002355670 RCV003098043
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)	SNV Germline	Chr1:17004391	Conflicting classifications of pathogenicity	Inborn genetic diseases Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA637610	rs_770121912	2 SubmittersRCV002351364 RCV003096551
NM_022089.4(ATP13A2):c.1543-7C>T	SNV Germline	Chr1:16993842	Conflicting classifications of pathogenicity	Condition: not provided Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Conflicting Classifications	CA521029298	rs_1293271804	2 SubmittersRCV002511577 RCV002571614
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)	SNV Germline	Chr1:17005449	Pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter	CA338264418	rs_1468568465	1 SubmittersRCV003115622
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)	SNV Germline	Chr1:16987164	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided ATP13A2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA636657	rs_757019364	4 SubmittersRCV002711281 RCV003235740 RCV004738603 RCV004067726
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)	SNV Germline	Chr1:16992022	Pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter	CA636972	rs_774115028	1 SubmittersRCV002819487
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)	SNV Germline	Chr1:16992506	Pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter	CA338246737	rs_2523315114	1 SubmittersRCV002819521
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)	SNV Germline	Chr1:17000466	Pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome Neurodegeneration with brain iron accumulation	Criteria Provided Multiple Submitters No Conflicts	CA338258539	rs_1334843918	3 SubmittersRCV002913788 RCV004765595 RCV003111604
NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)	SNV Germline	Chr1:16987231	Conflicting classifications of pathogenicity	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78 Condition: not provided	Criteria Provided Conflicting Classifications	CA636670	rs_369100259	3 SubmittersRCV003006157 RCV004779399
NM_022089.4(ATP13A2):c.2006-1G>C	SNV Germline	Chr1:16992130	Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter	CA338245057	rs_2523277815	1 SubmittersRCV003023466
NM_022089.4(ATP13A2):c.1306+1G>C	SNV Germline	Chr1:16996385	Likely pathogenic	Kufor-Rakeb syndrome	Criteria Provided Single Submitter	CA338254162	rs_1429379858	1 SubmittersRCV003340702
NM_022089.4(ATP13A2):c.2413-1G>C	SNV Germline	Chr1:16990004	Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter	CA636831	rs_768307347	1 SubmittersRCV003788419
NM_022089.4(ATP13A2):c.557+1G>T	SNV Germline	Chr1:17004331	Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter	CA338261325	rs_1296471018	1 SubmittersRCV003817903
NM_022089.4(ATP13A2):c.3083+1G>C	SNV Germline	Chr1:16987045	Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter			1 SubmittersRCV005004724
NM_022089.4(ATP13A2):c.2609+1G>C	SNV Germline	Chr1:16989690	Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter			1 SubmittersRCV005006737
NM_022089.4(ATP13A2):c.1040-1G>A	SNV Germline	Chr1:16997176	Likely pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter			1 SubmittersRCV005006742
NM_022089.4(ATP13A2):c.11-2A>G	SNV Germline	Chr1:17005780	Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005209742
NM_022089.4(ATP13A2):c.2413-2A>G	SNV Germline	Chr1:16990005	Likely pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005218766
NM_022089.4(ATP13A2):c.2539C>T (p.Gln847Ter)	SNV Germline	Chr1:16989761	Pathogenic	Autosomal recessive spastic paraplegia type 78 Kufor-Rakeb syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005212452
NM_022089.4(ATP13A2):c.2218C>T (p.Arg740Ter)	SNV Germline	Chr1:16991767	Likely pathogenic	Kufor-Rakeb syndrome	No Assertion Criteria Provided			1 SubmittersRCV005864030
NM_022089.4(ATP13A2):c.2592C>A (p.Cys864Ter)	SNV Germline	Chr1:16989708	Pathogenic	Kufor-Rakeb syndrome Autosomal recessive spastic paraplegia type 78	Criteria Provided Single Submitter			1 SubmittersRCV006601000

SNV
Germline

Chr1:16996381

Pathogenic/Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251715

rs_786205056

3 SubmittersRCV000001278 RCV001851532 RCV004719607

NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)

SNV
Germline

Chr1:16996008

Pathogenic/Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
See cases
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA251716

rs_121918227

6 SubmittersRCV000001280 RCV001851533 RCV002251851 RCV004766975

NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg)

SNV
Germline

Chr1:16989739

Pathogenic

Kufor-Rakeb syndrome

No Assertion Criteria Provided

CA264798

rs_587777053

1 SubmittersRCV000056335

NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg)

SNV
Germline

Chr1:16988455

Pathogenic

Kufor-Rakeb syndrome

No Assertion Criteria Provided

CA264800

rs_144701072

1 SubmittersRCV000056336

NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp)

SNV
Germline

Chr1:16997107

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637367

rs_142616130

4 SubmittersRCV001099189 RCV004777569 RCV002513784 RCV005286023

NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)

SNV
Germline

Chr1:16988161

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases
ATP13A2-related disorder
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis

Criteria Provided
Conflicting Classifications

CA230914

rs_55708915

11 SubmittersRCV000116438 RCV000550501 RCV000785011 RCV001097255 RCV002313855 RCV004549579 RCV003483485

NM_022089.4(ATP13A2):c.993C>T (p.Ala331=)

SNV
Germline

Chr1:17000057

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Conflicting Classifications

CA239659

rs_568367953

2 SubmittersRCV000174159 RCV001439529

NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)

SNV
Germline

Chr1:17000107

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
not specified

Criteria Provided
Conflicting Classifications

CA276126

rs_150519745

3 SubmittersRCV000191065 RCV002514094 RCV004782296

NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)

SNV
Germline

Chr1:16988138

Conflicting classifications of pathogenicity

not specified
Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
ATP13A2-related disorder
Gastric cancer
Sarcoma
Melanoma

Criteria Provided
Conflicting Classifications

CA205846

rs_144557304

11 SubmittersRCV000192784 RCV000316626 RCV000725226 RCV001085655 RCV002314786 RCV004553047 RCV005892242 RCV005892241 RCV005892243

NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln)

SNV
Germline

Chr1:16996255

Conflicting classifications of pathogenicity

not specified
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
ATP13A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209120

rs_138546275

4 SubmittersRCV000194744 RCV001327469 RCV004553046 RCV005286043

NM_022089.4(ATP13A2):c.106-8G>A

SNV
Germline

Chr1:17005564

Conflicting classifications of pathogenicity

not specified
Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA207386

rs_200587951

9 SubmittersRCV000193708 RCV000307211 RCV000658501 RCV001086028

NM_022089.4(ATP13A2):c.841-4A>G

SNV
Germline

Chr1:17000316

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637465

rs_112549590

3 SubmittersRCV000298189 RCV001459926 RCV002446527

NM_022089.4(ATP13A2):c.846C>T (p.Ser282=)

SNV
Germline

Chr1:17000307

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA637462

rs_762440899

2 SubmittersRCV000307973 RCV002059253

NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)

SNV
Germline

Chr1:16990132

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636855

rs_747785443

5 SubmittersRCV000291217 RCV001531612 RCV001850498 RCV002450841

NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=)

SNV
Germline

Chr1:16990133

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA10608215

rs_886045580

2 SubmittersRCV000345890 RCV002059356

NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln)

SNV
Germline

Chr1:16990254

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636888

rs_766899425

4 SubmittersRCV000342536 RCV002059357 RCV002285304 RCV002519410

NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=)

SNV
Germline

Chr1:16996069

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637203

rs_750600448

3 SubmittersRCV000333655 RCV000874247 RCV003409442

NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)

SNV
Germline

Chr1:16996298

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
ATP13A2-related disorder

Criteria Provided
Conflicting Classifications

CA637266

rs_149372969

9 SubmittersRCV000383438 RCV000658499 RCV001080128 RCV002314040 RCV004549648

NM_022089.4(ATP13A2):c.*155C>T

SNV
Germline

Chr1:16986066

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided

Criteria Provided
Conflicting Classifications

CA636415

rs_762111359

3 SubmittersRCV000285239 RCV002502163 RCV003409440

NM_022089.4(ATP13A2):c.*130C>T

SNV
Germline

Chr1:16986091

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Congenital cerebellar hypoplasia

Criteria Provided
Conflicting Classifications

CA636423

rs_189334432

9 SubmittersRCV000317055 RCV000513062 RCV000768152 RCV005625525

NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)

SNV
Germline

Chr1:16986335

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases
ATP13A2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA636486

rs_377703085

9 SubmittersRCV000403466 RCV000875471 RCV001660565 RCV002450840 RCV004549644 RCV005434775

NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=)

SNV
Germline

Chr1:16986571

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636530

rs_756650754

3 SubmittersRCV000308299 RCV000542280 RCV002311411

NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)

SNV
Germline

Chr1:16986847

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases
Kufor-Rakeb syndrome

Criteria Provided
Conflicting Classifications

CA636581

rs_377431904

4 SubmittersRCV000527414 RCV002321972 RCV000396839

NM_022089.4(ATP13A2):c.2609+10C>T

SNV
Germline

Chr1:16989681

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
ATP13A2-related disorder

Criteria Provided
Conflicting Classifications

CA636776

rs_759204814

3 SubmittersRCV000294679 RCV002061160 RCV004549645

NM_022089.4(ATP13A2):c.2252-11A>G

SNV
Germline

Chr1:16990298

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA636902

rs_775547036

2 SubmittersRCV000298439 RCV003765709

NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)

SNV
Germline

Chr1:16992301

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637030

rs_369722835

4 SubmittersRCV000353211 RCV000877932 RCV002411185 RCV005641577

NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)

SNV
Germline

Chr1:16996293

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
Condition: not provided
Lung cancer
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA637264

rs_764435162

6 SubmittersRCV000326531 RCV000811676 RCV002379159 RCV004808668 RCV005891521 RCV005891520

NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=)

SNV
Germline

Chr1:16996489

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637315

rs_148026506

6 SubmittersRCV000377514 RCV000554838 RCV001528806 RCV002314041

NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu)

SNV
Germline

Chr1:16997052

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637350

rs_769588580

3 SubmittersRCV000405175 RCV002522072 RCV005055840

NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)

SNV
Germline

Chr1:17000099

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA637411

rs_148391179

9 SubmittersRCV000368117 RCV000874914 RCV001551772 RCV002374494 RCV006436721

NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=)

SNV
Germline

Chr1:16986490

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA636514

rs_773914880

2 SubmittersRCV000352678 RCV001850497

NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=)

SNV
Germline

Chr1:16987177

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA636659

rs_138212767

2 SubmittersRCV000261475 RCV003114463

NM_022089.4(ATP13A2):c.2619G>C (p.Val873=)

SNV
Germline

Chr1:16988465

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636752

rs_199994961

4 SubmittersRCV000386189 RCV000557434 RCV001594931 RCV002429245

NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu)

SNV
Germline

Chr1:16990276

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases
ATP13A2-related disorder

Criteria Provided
Conflicting Classifications

CA636893

rs_200924194

6 SubmittersRCV000395373 RCV001048930 RCV001329888 RCV001660566 RCV002317825 RCV004549646

NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)

SNV
Germline

Chr1:16996448

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
Condition: not provided
Melanoma

Criteria Provided
Conflicting Classifications

CA637304

rs_190746040

6 SubmittersRCV000291316 RCV001243069 RCV002392826 RCV004791387 RCV005891522

NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)

SNV
Germline

Chr1:16997087

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637357

rs_148970081

4 SubmittersRCV000298225 RCV000641076 RCV001553276 RCV002314042

NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=)

SNV
Germline

Chr1:16997150

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA637380

rs_750819290

3 SubmittersRCV000336881 RCV004546477 RCV006555801

NM_022089.4(ATP13A2):c.3111C>T (p.Ala1037=)

SNV
Germline

Chr1:16986929

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA636596

rs_538236343

2 SubmittersRCV000265102 RCV006555800

NM_022089.4(ATP13A2):c.2331C>T (p.His777=)

SNV
Germline

Chr1:16990208

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636876

rs_144708504

6 SubmittersRCV000301718 RCV000593213 RCV001081870 RCV002446539

NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)

SNV
Germline

Chr1:16992322

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
ATP13A2-related disorder

Criteria Provided
Conflicting Classifications

CA637033

rs_200916673

8 SubmittersRCV000263146 RCV000658498 RCV001080875 RCV002317826 RCV004549647

NM_022089.4(ATP13A2):c.396G>A (p.Ala132=)

SNV
Germline

Chr1:17004773

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637653

rs_140631323

3 SubmittersRCV000275889 RCV000969807 RCV004808669

NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)

SNV
Germline

Chr1:16986346

Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

CA16043957

rs_1057519289

3 SubmittersRCV000415542 RCV002502449 RCV004767250

NM_022089.4(ATP13A2):c.364C>T (p.Gln122Ter)

SNV
Germline

Chr1:17004805

Pathogenic/Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

No Assertion Criteria Provided

CA16043960

rs_1057519292

2 SubmittersRCV000415546 RCV004767251

NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter)

SNV
Germline

Chr1:16996262

Pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

CA16043961

rs_1057519293

3 SubmittersRCV000415578 RCV004767252

NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)

SNV
Germline

Chr1:17005465

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637734

rs_367745335

3 SubmittersRCV000431349 RCV002059821 RCV002418306

NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)

SNV
Germline

Chr1:16986292

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636474

rs_201610681

6 SubmittersRCV000512743 RCV000815305 RCV002527395

NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr)

SNV
Germline

Chr1:16991749

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
not specified
Condition: not provided
Kufor-Rakeb syndrome

Criteria Provided
Conflicting Classifications

CA636930

rs_147277743

5 SubmittersRCV000546370 RCV003155230 RCV004791549 RCV005367393

NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter)

SNV
Germline

Chr1:16992345

Pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA637037

rs_773246271

5 SubmittersRCV000762864 RCV001329887 RCV002223864 RCV004965558

NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter)

SNV
Germline

Chr1:16989961

Pathogenic

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Multiple Submitters
No Conflicts

CA18629099

rs_866035312

2 SubmittersRCV000592144 RCV002532645

NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)

SNV
Germline

Chr1:16996059

Pathogenic

Inborn genetic diseases
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Multiple Submitters
No Conflicts

CA338252192

rs_1303653650

2 SubmittersRCV000624309 RCV003767821

NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr)

SNV
Germline

Chr1:17000495

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637500

rs_199661793

4 SubmittersRCV000641069 RCV001569523

NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser)

SNV
Germline

Chr1:16990135

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636856

rs_752487771

3 SubmittersRCV000641063 RCV001766378 RCV004965624

NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)

SNV
Germline

Chr1:16993667

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA637114

rs_369863178

6 SubmittersRCV000658183 RCV001101082 RCV001084955 RCV002397337 RCV005240408

NM_022089.4(ATP13A2):c.477+2T>G

SNV
Germline

Chr1:17004690

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Neurodegeneration with brain iron accumulation
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA637638

rs_758014228

9 SubmittersRCV000658500 RCV000702718 RCV001269095 RCV002317906

NM_022089.4(ATP13A2):c.3473G>A (p.Arg1158His)

SNV
Germline

Chr1:16986291

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
not specified
Kufor-Rakeb syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636472

rs_544885605

6 SubmittersRCV000675886 RCV000805352 RCV004997136 RCV005357898 RCV004026141

NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)

SNV
Germline

Chr1:16986554

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Kufor-Rakeb syndrome
Inborn genetic diseases
ATP13A2-related disorder

Criteria Provided
Conflicting Classifications

CA636529

rs_201756175

7 SubmittersRCV000689446 RCV001560412 RCV001098912 RCV002325371 RCV004547857

NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)

SNV
Germline

Chr1:17004697

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637639

rs_113643181

4 SubmittersRCV000689547 RCV001288806 RCV002544846

NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser)

SNV
Germline

Chr1:16986539

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636524

rs_758675397

2 SubmittersRCV000707646 RCV004026756

NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)

SNV
Germline

Chr1:17000494

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA637499

rs_145515028

8 SubmittersRCV000709867 RCV000761644 RCV001079927 RCV002388353 RCV006436883

NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=)

SNV
Germline

Chr1:16986818

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA636572

rs_372993383

3 SubmittersRCV000710713 RCV001441682

NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)

SNV
Germline

Chr1:16991787

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636941

rs_201883464

4 SubmittersRCV000710707 RCV001083694 RCV002317939

NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)

SNV
Germline

Chr1:16986235

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases
ATP13A2-related disorder

Criteria Provided
Conflicting Classifications

CA636456

rs_547860186

4 SubmittersRCV000878446 RCV002279497 RCV002312397 RCV004547892

NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)

SNV
Germline

Chr1:16992115

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636987

rs_143834546

3 SubmittersRCV001071630 RCV001759440 RCV002318334

NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)

SNV
Germline

Chr1:16996490

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA637316

rs_377186549

3 SubmittersRCV002316090 RCV002477656

NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)

SNV
Germline

Chr1:16986526

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Kufor-Rakeb syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA636521

rs_115985012

6 SubmittersRCV001086688 RCV000873633 RCV001098911 RCV002313470 RCV006436891

NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val)

SNV
Germline

Chr1:16986611

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA636536

rs_370677966

5 SubmittersRCV001100727 RCV001205841 RCV002318164 RCV004768611

NM_022089.4(ATP13A2):c.114C>T (p.Ser38=)

SNV
Germline

Chr1:17005548

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637753

rs_368279466

3 SubmittersRCV000876022 RCV001097436 RCV002318278

NM_022089.4(ATP13A2):c.3084-10G>A

SNV
Germline

Chr1:16986966

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Conflicting Classifications

CA636601

rs_368908107

2 SubmittersRCV000727909 RCV002060965

NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)

SNV
Germline

Chr1:16986610

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Kufor-Rakeb syndrome

Criteria Provided
Conflicting Classifications

CA636534

rs_377253172

4 SubmittersRCV000728087 RCV001087477 RCV001100726

NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=)

SNV
Germline

Chr1:16997135

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637374

rs_55943100

3 SubmittersRCV000732655 RCV001449181 RCV002422630

NM_022089.4(ATP13A2):c.3405+9C>T

SNV
Germline

Chr1:16986454

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Condition: not provided
not specified
ATP13A2-related disorder

Criteria Provided
Conflicting Classifications

CA636506

rs_374766933

7 SubmittersRCV000768153 RCV001098910 RCV001556844 RCV003396334 RCV004549837

NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)

SNV
Germline

Chr1:16988338

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636727

rs_768674400

5 SubmittersRCV000768154 RCV002267022 RCV002440593

NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)

SNV
Germline

Chr1:16988444

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636747

rs_567287489

3 SubmittersRCV000768155 RCV002458374

NM_022089.4(ATP13A2):c.1039+6C>T

SNV
Germline

Chr1:17000005

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
ATP13A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637397

rs_565724504

6 SubmittersRCV000767898 RCV002061035 RCV004547959 RCV004965728

NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met)

SNV
Germline

Chr1:16987134

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636644

rs_764162255

2 SubmittersRCV000796885 RCV002440645

NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln)

SNV
Germline

Chr1:17005429

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637722

rs_773087322

3 SubmittersRCV000807297 RCV005742106 RCV005648062

NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)

SNV
Germline

Chr1:17005754

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637791

rs_151117874

4 SubmittersRCV000801260 RCV001097440 RCV002458463

NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=)

SNV
Germline

Chr1:16992564

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
not specified

Criteria Provided
Conflicting Classifications

CA637088

rs_752208167

3 SubmittersRCV000878894 RCV001101081 RCV001288805

NM_022089.4(ATP13A2):c.36G>A (p.Thr12=)

SNV
Germline

Chr1:17005753

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637790

rs_61741838

4 SubmittersRCV001097439 RCV002064799 RCV002346025 RCV005427343

NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)

SNV
Germline

Chr1:16993690

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637121

rs_541385523

2 SubmittersRCV002066305 RCV002409267

NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)

SNV
Germline

Chr1:16997136

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637375

rs_566918264

4 SubmittersRCV001099190 RCV001430929 RCV002265912 RCV002416218

NM_022089.4(ATP13A2):c.42C>T (p.Thr14=)

SNV
Germline

Chr1:17005747

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA637788

rs_371850140

2 SubmittersRCV001097438 RCV001414389

NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)

SNV
Germline

Chr1:17011732

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
ATP13A2-related disorder

Criteria Provided
Conflicting Classifications

CA637809

rs_549839037

5 SubmittersRCV000991571 RCV001392172 RCV002416271 RCV004553532

NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met)

SNV
Germline

Chr1:16996487

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637314

rs_763632781

4 SubmittersRCV000993929 RCV001644884 RCV005012425 RCV005286265

NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu)

SNV
Germline

Chr1:16986246

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636462

rs_372995036

5 SubmittersRCV001061799 RCV001092584 RCV005492927

NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)

SNV
Germline

Chr1:17004762

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637652

rs_562519835

4 SubmittersRCV002320317 RCV001062022 RCV004792700

NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu)

SNV
Germline

Chr1:17004813

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637660

rs_752619582

2 SubmittersRCV001036883 RCV004031008

NM_022089.4(ATP13A2):c.1845+1G>A

SNV
Germline

Chr1:16992485

Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

CA338246638

rs_2076970587

1 SubmittersRCV001059802

NM_022089.4(ATP13A2):c.558-1G>T

SNV
Germline

Chr1:17002374

Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

CA338260662

rs_2077392348

1 SubmittersRCV001095707

NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His)

SNV
Germline

Chr1:16989742

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636784

rs_745954026

4 SubmittersRCV001099008 RCV001856341 RCV004792720 RCV004032046

NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=)

SNV
Germline

Chr1:16989977

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA636825

rs_368244226

2 SubmittersRCV001099011 RCV002069664

NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=)

SNV
Germline

Chr1:16991795

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA636943

rs_148275181

2 SubmittersRCV001100828 RCV002067769

NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)

SNV
Germline

Chr1:16992378

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637046

rs_368423685

5 SubmittersRCV001101079 RCV001509024 RCV001856372 RCV003243477

NM_022089.4(ATP13A2):c.3235+15G>A

SNV
Germline

Chr1:16986790

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA636567

rs_761031832

2 SubmittersRCV001100728 RCV005213457

NM_022089.4(ATP13A2):c.1307-14C>T

SNV
Germline

Chr1:16996314

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA637272

rs_370771306

2 SubmittersRCV001099097 RCV002069666

NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu)

SNV
Germline

Chr1:16990213

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636877

rs_56170027

2 SubmittersRCV001205218 RCV005742177

NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)

SNV
Germline

Chr1:16986325

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA636483

rs_370421723

3 SubmittersRCV001246434 RCV003166546 RCV005642492

NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys)

SNV
Germline

Chr1:16989707

Conflicting classifications of pathogenicity

ATP13A2-related disorder
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636779

rs_148534162

3 SubmittersRCV001249720 RCV002570403 RCV004035293

NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)

SNV
Unknown

Chr1:16993721

Pathogenic/Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Multiple Submitters
No Conflicts

CA338248536

rs_1264582344

2 SubmittersRCV001262240 RCV002480876

NM_022089.4(ATP13A2):c.2529+1G>A

SNV
Germline

Chr1:16989886

Pathogenic/Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA636815

rs_776448394

3 SubmittersRCV001331222 RCV001863238

NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)

SNV
Germline

Chr1:16992323

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637034

rs_147260398

2 SubmittersRCV001365128 RCV003284271

NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter)

SNV
Germline

Chr1:16986904

Pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

CA338233699

rs_1557666781

1 SubmittersRCV001388838

NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)

SNV
Germline

Chr1:16986263

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636466

rs_781135190

2 SubmittersRCV001461696 RCV002560369

NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)

SNV
Germline

Chr1:16996449

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637305

rs_768796427

6 SubmittersRCV001509025 RCV001859353 RCV001821804 RCV002384858

NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)

SNV
Germline

Chr1:16992019

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA338244150

rs_2076949269

2 SubmittersRCV001531613 RCV003771646

NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu)

SNV
Germline

Chr1:16992565

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637089

rs_758992649

3 SubmittersRCV001546605 RCV001882618 RCV002405231

NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=)

SNV
Germline

Chr1:16996290

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA637262

rs_775625778

2 SubmittersRCV001768938 RCV002543997

NM_022089.4(ATP13A2):c.3083+2T>C

SNV
Germline

Chr1:16987044

Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

CA636626

rs_771581490

1 SubmittersRCV002038991

NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys)

SNV
Germline

Chr1:16997116

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Conflicting Classifications

CA637370

rs_770576740

3 SubmittersRCV001945222

NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser)

SNV
Germline

Chr1:16986525

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA18625133

rs_145674970

2 SubmittersRCV001926129 RCV004970540

NM_022089.4(ATP13A2):c.1846-2A>G

SNV
Germline

Chr1:16992404

Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

CA338246592

rs_2100783138

1 SubmittersRCV002014056

NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter)

SNV
Germline

Chr1:17002312

Pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

CA338260014

rs_1483668823

1 SubmittersRCV001952943

NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile)

SNV
Germline

Chr1:16990213

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636878

rs_56170027

2 SubmittersRCV001952741 RCV002561469

NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln)

SNV
Germline

Chr1:16996058

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA637201

rs_560095049

3 SubmittersRCV002039844 RCV003481140 RCV005288560

NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His)

SNV
Germline

Chr1:16986321

Conflicting classifications of pathogenicity

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636481

rs_533548757

3 SubmittersRCV001928113 RCV005742323

NM_022089.4(ATP13A2):c.153C>T (p.His51=)

SNV
Germline

Chr1:17005509

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA637744

rs_759666274

3 SubmittersRCV002074960 RCV002398255 RCV006435259

NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)

SNV
Germline

Chr1:16986597

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Conflicting Classifications

CA636532

rs_541932176

2 SubmittersRCV002325008 RCV003099350

NM_022089.4(ATP13A2):c.1195+5G>A

SNV
Germline

Chr1:16997015

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA637337

rs_751551929

2 SubmittersRCV002338326 RCV003096635

NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)

SNV
Germline

Chr1:17002342

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA338260355

rs_1466216649

2 SubmittersRCV002355670 RCV003098043

NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)

SNV
Germline

Chr1:17004391

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA637610

rs_770121912

2 SubmittersRCV002351364 RCV003096551

NM_022089.4(ATP13A2):c.1543-7C>T

SNV
Germline

Chr1:16993842

Conflicting classifications of pathogenicity

Condition: not provided
Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Conflicting Classifications

CA521029298

rs_1293271804

2 SubmittersRCV002511577 RCV002571614

NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)

SNV
Germline

Chr1:17005449

Pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

CA338264418

rs_1468568465

1 SubmittersRCV003115622

NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)

SNV
Germline

Chr1:16987164

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided
ATP13A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA636657

rs_757019364

4 SubmittersRCV002711281 RCV003235740 RCV004738603 RCV004067726

NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)

SNV
Germline

Chr1:16992022

Pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

CA636972

rs_774115028

1 SubmittersRCV002819487

NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)

SNV
Germline

Chr1:16992506

Pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

CA338246737

rs_2523315114

1 SubmittersRCV002819521

NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)

SNV
Germline

Chr1:17000466

Pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome
Neurodegeneration with brain iron accumulation

Criteria Provided
Multiple Submitters
No Conflicts

CA338258539

rs_1334843918

3 SubmittersRCV002913788 RCV004765595 RCV003111604

NM_022089.4(ATP13A2):c.2898C>T (p.Ile966=)

SNV
Germline

Chr1:16987231

Conflicting classifications of pathogenicity

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78
Condition: not provided

Criteria Provided
Conflicting Classifications

CA636670

rs_369100259

3 SubmittersRCV003006157 RCV004779399

NM_022089.4(ATP13A2):c.2006-1G>C

SNV
Germline

Chr1:16992130

Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

CA338245057

rs_2523277815

1 SubmittersRCV003023466

NM_022089.4(ATP13A2):c.1306+1G>C

SNV
Germline

Chr1:16996385

Likely pathogenic

Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

CA338254162

rs_1429379858

1 SubmittersRCV003340702

NM_022089.4(ATP13A2):c.2413-1G>C

SNV
Germline

Chr1:16990004

Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

CA636831

rs_768307347

1 SubmittersRCV003788419

NM_022089.4(ATP13A2):c.557+1G>T

SNV
Germline

Chr1:17004331

Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

CA338261325

rs_1296471018

1 SubmittersRCV003817903

NM_022089.4(ATP13A2):c.3083+1G>C

SNV
Germline

Chr1:16987045

Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

1 SubmittersRCV005004724

NM_022089.4(ATP13A2):c.2609+1G>C

SNV
Germline

Chr1:16989690

Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

1 SubmittersRCV005006737

NM_022089.4(ATP13A2):c.1040-1G>A

SNV
Germline

Chr1:16997176

Likely pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

1 SubmittersRCV005006742

NM_022089.4(ATP13A2):c.11-2A>G

SNV
Germline

Chr1:17005780

Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005209742

NM_022089.4(ATP13A2):c.2413-2A>G

SNV
Germline

Chr1:16990005

Likely pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005218766

NM_022089.4(ATP13A2):c.2539C>T (p.Gln847Ter)

SNV
Germline

Chr1:16989761

Pathogenic

Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005212452

NM_022089.4(ATP13A2):c.2218C>T (p.Arg740Ter)

SNV
Germline

Chr1:16991767

Likely pathogenic

Kufor-Rakeb syndrome

No Assertion Criteria Provided

1 SubmittersRCV005864030

NM_022089.4(ATP13A2):c.2592C>A (p.Cys864Ter)

SNV
Germline

Chr1:16989708

Pathogenic

Kufor-Rakeb syndrome
Autosomal recessive spastic paraplegia type 78

Criteria Provided
Single Submitter

1 SubmittersRCV006601000