Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	SNV Germline	Chr14:96876033	Pathogenic	Condition: not provided Pontocerebellar hypoplasia type 1A Abnormality of the musculature Inborn genetic diseases Congenital pontocerebellar hypoplasia type 1 Neuronopathy, distal hereditary motor, autosomal recessive 10 Neuronopathy, distal hereditary motor, autosomal recessive 10 Pontocerebellar hypoplasia type 1A	Criteria Provided Multiple Submitters No Conflicts	CA248458	rs_137853063	12 SubmittersRCV000523082 RCV000007926 RCV001836703 RCV000210656 RCV000690009 RCV003387437 RCV005003342
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)	SNV Germline	Chr14:96852853	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10 Pontocerebellar hypoplasia type 1A	Criteria Provided Conflicting Classifications	CA129060	rs_387906830	3 SubmittersRCV000023167 RCV005007889
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	SNV Germline	Chr9:37783993	Pathogenic	Pontocerebellar hypoplasia type 1B Inborn genetic diseases Condition: not provided Hypotonia Abnormality of the nervous system See cases EXOSC3-related disorder Congenital pontocerebellar hypoplasia type 1	Criteria Provided Multiple Submitters No Conflicts	CA204654	rs_141138948	40 SubmittersRCV000024366 RCV000190687 RCV000224817 RCV000761614 RCV001836713 RCV003156064 RCV004757111 RCV005364888
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	SNV Germline	Chr9:37784953	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1B 7 conditions Condition: not provided Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA342800	rs_387907196	24 SubmittersRCV000024369 RCV000853550 RCV001092265 RCV004586024
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)	SNV Germline	Chr9:37780795	Likely pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA260047	rs_672601332	2 SubmittersRCV000024370
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)	SNV Germline	Chr9:37784807	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1B Pontoneocerebellar hypoplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA345539	rs_374550999	11 SubmittersRCV000117005 RCV000825519 RCV001200535
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)	SNV Germline	Chr14:96856555	Conflicting classifications of pathogenicity	Condition: not provided Congenital pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 1A Inborn genetic diseases VRK1-related disorder Distal spinal muscular atrophy not specified	Criteria Provided Conflicting Classifications	CA231650	rs_139476915	15 SubmittersRCV000118846 RCV000559445 RCV000322092 RCV002444574 RCV003952580 RCV002227063 RCV003488393
NM_006831.3(CLP1):c.419G>A (p.Arg140His)	SNV Germline	Chr11:57659895	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 10 Condition: not provided Pontoneocerebellar hypoplasia	Criteria Provided Multiple Submitters No Conflicts	CA333293	rs_587777616	11 SubmittersRCV000133463 RCV000658593 RCV005431485
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)	SNV Germline	Chr9:37782041	Pathogenic	Pontocerebellar hypoplasia type 1B	No Assertion Criteria Provided	CA273761	rs_730882145	1 SubmittersRCV000161917
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	SNV Germline	Chr14:96846144	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1A Condition: not provided Inborn genetic diseases Neuronopathy, distal hereditary motor, autosomal recessive 10	Criteria Provided Conflicting Classifications	CA245220	rs_773138218	9 SubmittersRCV000203270 RCV000178190 RCV000624198 RCV003387512
NM_003384.3(VRK1):c.356A>G (p.His119Arg)	SNV Germline	Chr14:96847326	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1A Condition: not provided Neuronopathy, distal hereditary motor, autosomal recessive 10 Pontocerebellar hypoplasia type 1A	Criteria Provided Multiple Submitters No Conflicts	CA250404	rs_371295780	4 SubmittersRCV000191143 RCV000523462 RCV005008123
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	SNV Germline	Chr14:96860628	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1A Condition: not provided Juvenile amyotrophic lateral sclerosis Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10	Criteria Provided Multiple Submitters No Conflicts	CA250406	rs_772731615	6 SubmittersRCV000191144 RCV001705076 RCV001095537 RCV005008124
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)	SNV Germline	Chr9:37782040	Likely pathogenic	not specified Pontocerebellar hypoplasia type 1B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA205371	rs_797045567	5 SubmittersRCV000192511 RCV000625808 RCV003992226
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)	SNV Germline	Chr9:37784060	Conflicting classifications of pathogenicity	not specified Pontocerebellar hypoplasia type 1B	Criteria Provided Conflicting Classifications	CA206987	rs_138169215	3 SubmittersRCV000193472 RCV000699890
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)	SNV Germline	Chr9:37784852	Conflicting classifications of pathogenicity	not specified Pontocerebellar hypoplasia type 1B EXOSC3-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205604	rs_62640002	6 SubmittersRCV000192646 RCV000865460 RCV003955150 RCV001545046 RCV004020316
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	SNV Germline	Chr14:96855353	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10 Condition: not provided Inborn genetic diseases Neuronopathy, distal hereditary motor, autosomal recessive 10 Pontocerebellar hypoplasia type 1A	Criteria Provided Conflicting Classifications	CA339651	rs_771364038	8 SubmittersRCV000203265 RCV003387514 RCV003441782 RCV002517363 RCV005003558
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)	SNV Germline	Chr14:96837776	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Pontocerebellar hypoplasia type 1A	Criteria Provided Conflicting Classifications	CA7338879	rs_61736727	5 SubmittersRCV000319758 RCV002411141 RCV001272568
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)	SNV Germline	Chr14:96856579	Conflicting classifications of pathogenicity	Condition: not provided Pontocerebellar hypoplasia type 1A Congenital pontocerebellar hypoplasia type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7339107	rs_541660707	5 SubmittersRCV000289205 RCV000358150 RCV000823345 RCV002374471
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)	SNV Germline	Chr9:37784879	Conflicting classifications of pathogenicity	not specified Pontocerebellar hypoplasia type 1B EXOSC3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5062844	rs_148348866	6 SubmittersRCV000418914 RCV000874627 RCV003902438 RCV002523792
NM_016042.4(EXOSC3):c.-11T>C	SNV Germline	Chr9:37785055	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1B not specified	Criteria Provided Conflicting Classifications	CA5062903	rs_373191549	2 SubmittersRCV000276347 RCV000442496
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)	SNV Germline	Chr14:96846139	Conflicting classifications of pathogenicity	Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 1A	Criteria Provided Conflicting Classifications	CA7338901	rs_748309797	2 SubmittersRCV000297803 RCV002522341
NM_003384.3(VRK1):c.1069-9A>G	SNV Germline	Chr14:96876021	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1A Congenital pontocerebellar hypoplasia type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7339186	rs_767585930	4 SubmittersRCV000323388 RCV001278971 RCV003884464
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)	SNV Germline	Chr9:37783958	Conflicting classifications of pathogenicity	Condition: not provided Pontocerebellar hypoplasia type 1B not specified	Criteria Provided Conflicting Classifications	CA5062761	rs_138085418	4 SubmittersRCV000875625 RCV001168095 RCV005434914
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)	SNV Germline	Chr14:96860687	Conflicting classifications of pathogenicity	not specified Condition: not provided Pontocerebellar hypoplasia type 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7339143	rs_147853760	10 SubmittersRCV000445136 RCV000727208 RCV001116698 RCV002379307
NM_016042.4(EXOSC3):c.475-12A>G	SNV Germline	Chr9:37782149	Conflicting classifications of pathogenicity	Condition: not provided Pontocerebellar hypoplasia type 1B	Criteria Provided Conflicting Classifications	CA5062742	rs_370087266	3 SubmittersRCV000578597 RCV000696069
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)	SNV Germline	Chr14:96881177	Pathogenic/Likely pathogenic	Inborn genetic diseases Neuronopathy, distal hereditary motor, autosomal recessive 10 Pontocerebellar hypoplasia type 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390932560	rs_1420939606	4 SubmittersRCV000622335 RCV003387440 RCV003103815 RCV003488735
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)	SNV Germline	Chr16:89647238	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1A Pontocerebellar hypoplasia type 8	Criteria Provided Conflicting Classifications	CA397433083	rs_1064794609	2 SubmittersRCV000626145 RCV004595520
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)	SNV Germline	Chr14:96846143	Pathogenic	Inborn genetic diseases Pontocerebellar hypoplasia type 1A	Criteria Provided Multiple Submitters No Conflicts	CA7338902	rs_772263867	2 SubmittersRCV002458053 RCV002533248
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)	SNV Germline	Chr14:96860643	Pathogenic	Pontocerebellar hypoplasia type 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390932129	rs_1566713184	3 SubmittersRCV000758202 RCV001592942
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)	SNV Germline	Chr14:96855330	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Pontocerebellar hypoplasia type 1A not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7339046	rs_146113610	6 SubmittersRCV001374508 RCV001830759 RCV003226397 RCV004028265 RCV004721623
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)	SNV Germline	Chr14:96860733	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Multiple Submitters No Conflicts	CA390932326	rs_1223645705	2 SubmittersRCV001809826
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)	SNV Germline	Chr9:37784992	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5062863	rs_145677716	3 SubmittersRCV000923636 RCV002541008
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)	SNV Germline	Chr9:37784993	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5062864	rs_147135294	3 SubmittersRCV000923637 RCV002542175
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)	SNV Germline	Chr14:96855284	Conflicting classifications of pathogenicity	EMG: neuropathic changes Microcephaly-complex motor and sensory axonal neuropathy syndrome Pontocerebellar hypoplasia type 1A	Criteria Provided Conflicting Classifications	CA390931092	rs_1595676477	3 SubmittersRCV001003373 RCV002479197
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)	SNV Germline	Chr14:96833627	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931232	rs_1887100431	1 SubmittersRCV003103923
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)	SNV Germline	Chr14:96855307	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1A Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10	Criteria Provided Multiple Submitters No Conflicts	CA7339042	rs_762979613	2 SubmittersRCV002553209 RCV005012487
NM_003384.3(VRK1):c.1159+1G>A	SNV Germline	Chr14:96876121	Pathogenic/Likely pathogenic	Condition: not provided Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10	Criteria Provided Multiple Submitters No Conflicts	CA390932550	rs_774877872	4 SubmittersRCV002290574 RCV002553287 RCV005235511
NM_003384.3(VRK1):c.828T>C (p.Ile276=)	SNV Germline	Chr14:96856248	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1A	Criteria Provided Conflicting Classifications	CA487866528	rs_1334577291	2 SubmittersRCV001116697
NM_003384.3(VRK1):c.161-14A>G	SNV Germline	Chr14:96837748	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1A	Criteria Provided Conflicting Classifications	CA7338872	rs_375176918	2 SubmittersRCV001121578
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)	SNV Germline	Chr9:37785003	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1B	Criteria Provided Conflicting Classifications	CA465126722	rs_1828679645	2 SubmittersRCV001165972
NM_016042.4(EXOSC3):c.325-6T>C	SNV Germline	Chr9:37784069	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1B	Criteria Provided Conflicting Classifications	CA5062778	rs_375827861	2 SubmittersRCV001168859
NM_016042.4(EXOSC3):c.324+15C>T	SNV Germline	Chr9:37784706	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1B	Criteria Provided Conflicting Classifications	CA5062802	rs_775818894	2 SubmittersRCV001168860
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)	SNV Germline	Chr9:37785043	Pathogenic/Likely pathogenic	Condition: not provided Pontocerebellar hypoplasia type 1B Pontoneocerebellar hypoplasia	Criteria Provided Multiple Submitters No Conflicts	CA373476231	rs_1325914775	4 SubmittersRCV001200536 RCV003770230 RCV003331076
NM_003384.3(VRK1):c.889+1G>A	SNV Germline	Chr14:96856587	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931789	rs_1482696609	1 SubmittersRCV002561763
NM_003384.3(VRK1):c.889+1G>T	SNV Germline	Chr14:96856587	Likely pathogenic	Inborn genetic diseases Pontocerebellar hypoplasia type 1A	Criteria Provided Multiple Submitters No Conflicts	CA390931791	rs_1482696609	2 SubmittersRCV002375189 RCV002561903
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)	SNV Germline	Chr14:96856208	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931532	rs_1428656431	2 SubmittersRCV001290422
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)	SNV Germline	Chr14:96856232	Likely pathogenic	Pontocerebellar hypoplasia type 1A	No Assertion Criteria Provided	CA390931593	rs_2139804166	1 SubmittersRCV001645020
NM_003384.3(VRK1):c.216+1G>C	SNV Germline	Chr14:96837818	Likely pathogenic	Pontocerebellar hypoplasia type 1A Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA390931922	rs_774518440	3 SubmittersRCV001836384 RCV002432061
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)	SNV Germline	Chr14:96833581	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931036	rs_2139748841	1 SubmittersRCV002550273
NM_003384.3(VRK1):c.705C>G (p.Gly235=)	SNV Germline	Chr14:96855352	Conflicting classifications of pathogenicity	Condition: not provided Pontocerebellar hypoplasia type 1A	Criteria Provided Conflicting Classifications	CA487864828	rs_2230532	2 SubmittersRCV001761375 RCV002539151
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)	SNV Germline	Chr9:37785042	Pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA373476228	rs_1198691735	1 SubmittersRCV003827688
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)	SNV Germline	Chr14:96856153	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931404	rs_1200170208	1 SubmittersRCV002561409
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)	SNV Germline	Chr14:96876085	Pathogenic/Likely pathogenic	Neuronopathy, distal hereditary motor, autosomal recessive 10 Pontocerebellar hypoplasia type 1A Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10	Criteria Provided Multiple Submitters No Conflicts	CA266092641	rs_184887106	4 SubmittersRCV003387539 RCV002563635 RCV004796691
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)	SNV Germline	Chr14:96855299	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931166	rs_2139801958	1 SubmittersRCV002564383
NM_003384.3(VRK1):c.160+1G>T	SNV Germline	Chr14:96833632	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931258	rs_2139749072	1 SubmittersRCV002579619
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)	SNV Germline	Chr14:96856203	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931517	rs_2139804073	1 SubmittersRCV002553454
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)	SNV Germline	Chr9:37782130	Likely pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA373475243	rs_2118977758	1 SubmittersRCV002211035
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)	SNV Germline	Chr9:37782056	Pathogenic/Likely pathogenic	Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 1B	Criteria Provided Multiple Submitters No Conflicts	CA5062731	rs_149049356	3 SubmittersRCV002308518 RCV003102289
NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)	SNV Germline	Chr11:57659531	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 10 not specified	Criteria Provided Conflicting Classifications	CA380696040	rs_1945853889	2 SubmittersRCV005050585 RCV005239443
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)	SNV Germline	Chr9:37785043	Likely pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA373476229	rs_1325914775	1 SubmittersRCV002470377
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)	SNV Germline	Chr9:37784894	Pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA192954049	rs_114878910	1 SubmittersRCV003072623
NM_003384.3(VRK1):c.710-1G>A	SNV Germline	Chr14:96856129	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931352	rs_2504194332	1 SubmittersRCV002636991
NM_003384.3(VRK1):c.1069-2A>G	SNV Germline	Chr14:96876028	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390932340	rs_2504251871	1 SubmittersRCV002863646
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)	SNV Germline	Chr14:96833493	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390930726	rs_761254060	1 SubmittersRCV003016872
NM_003384.3(VRK1):c.216+1G>A	SNV Germline	Chr14:96837818	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA7338882	rs_774518440	1 SubmittersRCV003043515
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)	SNV Germline	Chr9:37780804	Likely pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA373474733	rs_1258608435	1 SubmittersRCV003225691
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)	SNV Germline	Chr14:96852920	Pathogenic	Inborn genetic diseases Pontocerebellar hypoplasia type 1A	Criteria Provided Multiple Submitters No Conflicts	CA390930408	rs_1257821102	2 SubmittersRCV003282068 RCV003507492
NM_003384.3(VRK1):c.374+1G>T	SNV Germline	Chr14:96847345	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390930190	rs_2504169446	1 SubmittersRCV003507556
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)	SNV Germline	Chr14:96853132	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390930599	rs_2504185348	1 SubmittersRCV003507656
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)	SNV Germline	Chr14:96833502	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390930743	rs_868010710	1 SubmittersRCV003508555
NM_003384.3(VRK1):c.161-2A>G	SNV Germline	Chr14:96837760	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931796	rs_2504141901	1 SubmittersRCV003506816
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)	SNV Germline	Chr9:37780793	Pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA373474712	rs_944335096	1 SubmittersRCV003529833
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)	SNV Germline	Chr9:37785044	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Multiple Submitters No Conflicts	CA5062897	rs_773436764	2 SubmittersRCV003529892
NM_003384.3(VRK1):c.287-2A>C	SNV Germline	Chr14:96847255	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390929988	rs_2504169004	1 SubmittersRCV003620836
NM_016042.4(EXOSC3):c.325-1G>T	SNV Germline	Chr9:37784064	Likely pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA373475593	rs_2489888636	1 SubmittersRCV003646533
NM_003384.3(VRK1):c.483+1G>A	SNV Germline	Chr14:96852940	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390930452	rs_2504184408	1 SubmittersRCV003621418
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)	SNV Germline	Chr9:37785044	Pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA192954244	rs_773436764	1 SubmittersRCV003647130
NM_003384.3(VRK1):c.576+1G>A	SNV Germline	Chr14:96853167	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390930675	rs_1888018806	1 SubmittersRCV003836653
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)	SNV Germline	Chr14:96856230	Pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931587	rs_943810223	1 SubmittersRCV003831271
NM_003384.3(VRK1):c.830+1G>C	SNV Germline	Chr14:96856251	Likely pathogenic	Pontocerebellar hypoplasia type 1A	Criteria Provided Single Submitter	CA390931636	rs_2504194954	1 SubmittersRCV003867784
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)	SNV Germline	Chr9:37785042	Pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter	CA373476226	rs_1198691735	1 SubmittersRCV003876594
NM_003384.3(VRK1):c.287-2A>G	SNV Germline	Chr14:96847255	Likely pathogenic	Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10	Criteria Provided Single Submitter			1 SubmittersRCV005009416
NM_016042.4(EXOSC3):c.627-1G>C	SNV Germline	Chr9:37780881	Likely pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter			1 SubmittersRCV005049120
NM_016042.4(EXOSC3):c.325-1G>A	SNV Germline	Chr9:37784064	Likely pathogenic	Pontocerebellar hypoplasia type 1B	Criteria Provided Single Submitter			1 SubmittersRCV005048405
NM_006831.3(CLP1):c.346C>T (p.Arg116Ter)	SNV Germline	Chr11:57659822	Likely pathogenic	Pontocerebellar hypoplasia type 10	Criteria Provided Single Submitter			1 SubmittersRCV005050247
NM_006831.3(CLP1):c.907G>T (p.Glu303Ter)	SNV Germline	Chr11:57661065	Likely pathogenic	Pontocerebellar hypoplasia type 10	Criteria Provided Single Submitter			1 SubmittersRCV005050248
NM_003384.3(VRK1):c.286+2T>G	SNV Germline	Chr14:96846166	Likely pathogenic	Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10	Criteria Provided Single Submitter			1 SubmittersRCV005356935

NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)

SNV
Germline

Chr14:96876033

Pathogenic

Condition: not provided
Pontocerebellar hypoplasia type 1A
Abnormality of the musculature
Inborn genetic diseases
Congenital pontocerebellar hypoplasia type 1
Neuronopathy, distal hereditary motor, autosomal recessive 10
Neuronopathy, distal hereditary motor, autosomal recessive 10
Pontocerebellar hypoplasia type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA248458

rs_137853063

12 SubmittersRCV000523082 RCV000007926 RCV001836703 RCV000210656 RCV000690009 RCV003387437 RCV005003342

NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)

SNV
Germline

Chr14:96852853

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10
Pontocerebellar hypoplasia type 1A

Criteria Provided
Conflicting Classifications

CA129060

rs_387906830

3 SubmittersRCV000023167 RCV005007889

NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)

SNV
Germline

Chr9:37783993

Pathogenic

Pontocerebellar hypoplasia type 1B
Inborn genetic diseases
Condition: not provided
Hypotonia
Abnormality of the nervous system
See cases
EXOSC3-related disorder
Congenital pontocerebellar hypoplasia type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA204654

rs_141138948

40 SubmittersRCV000024366 RCV000190687 RCV000224817 RCV000761614 RCV001836713 RCV003156064 RCV004757111 RCV005364888

NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)

SNV
Germline

Chr9:37784953

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1B
7 conditions
Condition: not provided
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA342800

rs_387907196

24 SubmittersRCV000024369 RCV000853550 RCV001092265 RCV004586024

NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)

SNV
Germline

Chr9:37780795

Likely pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA260047

rs_672601332

2 SubmittersRCV000024370

NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)

SNV
Germline

Chr9:37784807

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1B
Pontoneocerebellar hypoplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA345539

rs_374550999

11 SubmittersRCV000117005 RCV000825519 RCV001200535

NM_003384.3(VRK1):c.858G>T (p.Met286Ile)

SNV
Germline

Chr14:96856555

Conflicting classifications of pathogenicity

Condition: not provided
Congenital pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 1A
Inborn genetic diseases
VRK1-related disorder
Distal spinal muscular atrophy
not specified

Criteria Provided
Conflicting Classifications

CA231650

rs_139476915

15 SubmittersRCV000118846 RCV000559445 RCV000322092 RCV002444574 RCV003952580 RCV002227063 RCV003488393

NM_006831.3(CLP1):c.419G>A (p.Arg140His)

SNV
Germline

Chr11:57659895

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 10
Condition: not provided
Pontoneocerebellar hypoplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA333293

rs_587777616

11 SubmittersRCV000133463 RCV000658593 RCV005431485

NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)

SNV
Germline

Chr9:37782041

Pathogenic

Pontocerebellar hypoplasia type 1B

No Assertion Criteria Provided

CA273761

rs_730882145

1 SubmittersRCV000161917

NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)

SNV
Germline

Chr14:96846144

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1A
Condition: not provided
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal recessive 10

Criteria Provided
Conflicting Classifications

CA245220

rs_773138218

9 SubmittersRCV000203270 RCV000178190 RCV000624198 RCV003387512

NM_003384.3(VRK1):c.356A>G (p.His119Arg)

SNV
Germline

Chr14:96847326

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1A
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 10
Pontocerebellar hypoplasia type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA250404

rs_371295780

4 SubmittersRCV000191143 RCV000523462 RCV005008123

NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)

SNV
Germline

Chr14:96860628

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1A
Condition: not provided
Juvenile amyotrophic lateral sclerosis
Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10

Criteria Provided
Multiple Submitters
No Conflicts

CA250406

rs_772731615

6 SubmittersRCV000191144 RCV001705076 RCV001095537 RCV005008124

NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)

SNV
Germline

Chr9:37782040

Likely pathogenic

not specified
Pontocerebellar hypoplasia type 1B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA205371

rs_797045567

5 SubmittersRCV000192511 RCV000625808 RCV003992226

NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)

SNV
Germline

Chr9:37784060

Conflicting classifications of pathogenicity

not specified
Pontocerebellar hypoplasia type 1B

Criteria Provided
Conflicting Classifications

CA206987

rs_138169215

3 SubmittersRCV000193472 RCV000699890

NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)

SNV
Germline

Chr9:37784852

Conflicting classifications of pathogenicity

not specified
Pontocerebellar hypoplasia type 1B
EXOSC3-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205604

rs_62640002

6 SubmittersRCV000192646 RCV000865460 RCV003955150 RCV001545046 RCV004020316

NM_003384.3(VRK1):c.706G>A (p.Val236Met)

SNV
Germline

Chr14:96855353

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10
Condition: not provided
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal recessive 10
Pontocerebellar hypoplasia type 1A

Criteria Provided
Conflicting Classifications

CA339651

rs_771364038

8 SubmittersRCV000203265 RCV003387514 RCV003441782 RCV002517363 RCV005003558

NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)

SNV
Germline

Chr14:96837776

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Pontocerebellar hypoplasia type 1A

Criteria Provided
Conflicting Classifications

CA7338879

rs_61736727

5 SubmittersRCV000319758 RCV002411141 RCV001272568

NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)

SNV
Germline

Chr14:96856579

Conflicting classifications of pathogenicity

Condition: not provided
Pontocerebellar hypoplasia type 1A
Congenital pontocerebellar hypoplasia type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7339107

rs_541660707

5 SubmittersRCV000289205 RCV000358150 RCV000823345 RCV002374471

NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)

SNV
Germline

Chr9:37784879

Conflicting classifications of pathogenicity

not specified
Pontocerebellar hypoplasia type 1B
EXOSC3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5062844

rs_148348866

6 SubmittersRCV000418914 RCV000874627 RCV003902438 RCV002523792

NM_016042.4(EXOSC3):c.-11T>C

SNV
Germline

Chr9:37785055

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1B
not specified

Criteria Provided
Conflicting Classifications

CA5062903

rs_373191549

2 SubmittersRCV000276347 RCV000442496

NM_003384.3(VRK1):c.261C>T (p.Tyr87=)

SNV
Germline

Chr14:96846139

Conflicting classifications of pathogenicity

Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 1A

Criteria Provided
Conflicting Classifications

CA7338901

rs_748309797

2 SubmittersRCV000297803 RCV002522341

NM_003384.3(VRK1):c.1069-9A>G

SNV
Germline

Chr14:96876021

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1A
Congenital pontocerebellar hypoplasia type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7339186

rs_767585930

4 SubmittersRCV000323388 RCV001278971 RCV003884464

NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)

SNV
Germline

Chr9:37783958

Conflicting classifications of pathogenicity

Condition: not provided
Pontocerebellar hypoplasia type 1B
not specified

Criteria Provided
Conflicting Classifications

CA5062761

rs_138085418

4 SubmittersRCV000875625 RCV001168095 RCV005434914

NM_003384.3(VRK1):c.1020C>T (p.Asp340=)

SNV
Germline

Chr14:96860687

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Pontocerebellar hypoplasia type 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7339143

rs_147853760

10 SubmittersRCV000445136 RCV000727208 RCV001116698 RCV002379307

NM_016042.4(EXOSC3):c.475-12A>G

SNV
Germline

Chr9:37782149

Conflicting classifications of pathogenicity

Condition: not provided
Pontocerebellar hypoplasia type 1B

Criteria Provided
Conflicting Classifications

CA5062742

rs_370087266

3 SubmittersRCV000578597 RCV000696069

NM_003384.3(VRK1):c.1160G>A (p.Arg387His)

SNV
Germline

Chr14:96881177

Pathogenic/Likely pathogenic

Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal recessive 10
Pontocerebellar hypoplasia type 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390932560

rs_1420939606

4 SubmittersRCV000622335 RCV003387440 RCV003103815 RCV003488735

NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)

SNV
Germline

Chr16:89647238

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 8

Criteria Provided
Conflicting Classifications

CA397433083

rs_1064794609

2 SubmittersRCV000626145 RCV004595520

NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr14:96846143

Pathogenic

Inborn genetic diseases
Pontocerebellar hypoplasia type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA7338902

rs_772263867

2 SubmittersRCV002458053 RCV002533248

NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)

SNV
Germline

Chr14:96860643

Pathogenic

Pontocerebellar hypoplasia type 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390932129

rs_1566713184

3 SubmittersRCV000758202 RCV001592942

NM_003384.3(VRK1):c.683C>T (p.Thr228Met)

SNV
Germline

Chr14:96855330

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Pontocerebellar hypoplasia type 1A
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7339046

rs_146113610

6 SubmittersRCV001374508 RCV001830759 RCV003226397 RCV004028265 RCV004721623

NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)

SNV
Germline

Chr14:96860733

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA390932326

rs_1223645705

2 SubmittersRCV001809826

NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)

SNV
Germline

Chr9:37784992

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5062863

rs_145677716

3 SubmittersRCV000923636 RCV002541008

NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)

SNV
Germline

Chr9:37784993

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5062864

rs_147135294

3 SubmittersRCV000923637 RCV002542175

NM_003384.3(VRK1):c.637T>C (p.Tyr213His)

SNV
Germline

Chr14:96855284

Conflicting classifications of pathogenicity

EMG: neuropathic changes
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Pontocerebellar hypoplasia type 1A

Criteria Provided
Conflicting Classifications

CA390931092

rs_1595676477

3 SubmittersRCV001003373 RCV002479197

NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)

SNV
Germline

Chr14:96833627

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931232

rs_1887100431

1 SubmittersRCV003103923

NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)

SNV
Germline

Chr14:96855307

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10

Criteria Provided
Multiple Submitters
No Conflicts

CA7339042

rs_762979613

2 SubmittersRCV002553209 RCV005012487

NM_003384.3(VRK1):c.1159+1G>A

SNV
Germline

Chr14:96876121

Pathogenic/Likely pathogenic

Condition: not provided
Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10

Criteria Provided
Multiple Submitters
No Conflicts

CA390932550

rs_774877872

4 SubmittersRCV002290574 RCV002553287 RCV005235511

NM_003384.3(VRK1):c.828T>C (p.Ile276=)

SNV
Germline

Chr14:96856248

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1A

Criteria Provided
Conflicting Classifications

CA487866528

rs_1334577291

2 SubmittersRCV001116697

NM_003384.3(VRK1):c.161-14A>G

SNV
Germline

Chr14:96837748

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1A

Criteria Provided
Conflicting Classifications

CA7338872

rs_375176918

2 SubmittersRCV001121578

NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)

SNV
Germline

Chr9:37785003

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1B

Criteria Provided
Conflicting Classifications

CA465126722

rs_1828679645

2 SubmittersRCV001165972

NM_016042.4(EXOSC3):c.325-6T>C

SNV
Germline

Chr9:37784069

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1B

Criteria Provided
Conflicting Classifications

CA5062778

rs_375827861

2 SubmittersRCV001168859

NM_016042.4(EXOSC3):c.324+15C>T

SNV
Germline

Chr9:37784706

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1B

Criteria Provided
Conflicting Classifications

CA5062802

rs_775818894

2 SubmittersRCV001168860

NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)

SNV
Germline

Chr9:37785043

Pathogenic/Likely pathogenic

Condition: not provided
Pontocerebellar hypoplasia type 1B
Pontoneocerebellar hypoplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA373476231

rs_1325914775

4 SubmittersRCV001200536 RCV003770230 RCV003331076

NM_003384.3(VRK1):c.889+1G>A

SNV
Germline

Chr14:96856587

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931789

rs_1482696609

1 SubmittersRCV002561763

NM_003384.3(VRK1):c.889+1G>T

SNV
Germline

Chr14:96856587

Likely pathogenic

Inborn genetic diseases
Pontocerebellar hypoplasia type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA390931791

rs_1482696609

2 SubmittersRCV002375189 RCV002561903

NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)

SNV
Germline

Chr14:96856208

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931532

rs_1428656431

2 SubmittersRCV001290422

NM_003384.3(VRK1):c.812T>C (p.Val271Ala)

SNV
Germline

Chr14:96856232

Likely pathogenic

Pontocerebellar hypoplasia type 1A

No Assertion Criteria Provided

CA390931593

rs_2139804166

1 SubmittersRCV001645020

NM_003384.3(VRK1):c.216+1G>C

SNV
Germline

Chr14:96837818

Likely pathogenic

Pontocerebellar hypoplasia type 1A
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA390931922

rs_774518440

3 SubmittersRCV001836384 RCV002432061

NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)

SNV
Germline

Chr14:96833581

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931036

rs_2139748841

1 SubmittersRCV002550273

NM_003384.3(VRK1):c.705C>G (p.Gly235=)

SNV
Germline

Chr14:96855352

Conflicting classifications of pathogenicity

Condition: not provided
Pontocerebellar hypoplasia type 1A

Criteria Provided
Conflicting Classifications

CA487864828

rs_2230532

2 SubmittersRCV001761375 RCV002539151

NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)

SNV
Germline

Chr9:37785042

Pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA373476228

rs_1198691735

1 SubmittersRCV003827688

NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)

SNV
Germline

Chr14:96856153

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931404

rs_1200170208

1 SubmittersRCV002561409

NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)

SNV
Germline

Chr14:96876085

Pathogenic/Likely pathogenic

Neuronopathy, distal hereditary motor, autosomal recessive 10
Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10

Criteria Provided
Multiple Submitters
No Conflicts

CA266092641

rs_184887106

4 SubmittersRCV003387539 RCV002563635 RCV004796691

NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)

SNV
Germline

Chr14:96855299

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931166

rs_2139801958

1 SubmittersRCV002564383

NM_003384.3(VRK1):c.160+1G>T

SNV
Germline

Chr14:96833632

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931258

rs_2139749072

1 SubmittersRCV002579619

NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)

SNV
Germline

Chr14:96856203

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931517

rs_2139804073

1 SubmittersRCV002553454

NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)

SNV
Germline

Chr9:37782130

Likely pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA373475243

rs_2118977758

1 SubmittersRCV002211035

NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)

SNV
Germline

Chr9:37782056

Pathogenic/Likely pathogenic

Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA5062731

rs_149049356

3 SubmittersRCV002308518 RCV003102289

NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)

SNV
Germline

Chr11:57659531

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 10
not specified

Criteria Provided
Conflicting Classifications

CA380696040

rs_1945853889

2 SubmittersRCV005050585 RCV005239443

NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)

SNV
Germline

Chr9:37785043

Likely pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA373476229

rs_1325914775

1 SubmittersRCV002470377

NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)

SNV
Germline

Chr9:37784894

Pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA192954049

rs_114878910

1 SubmittersRCV003072623

NM_003384.3(VRK1):c.710-1G>A

SNV
Germline

Chr14:96856129

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931352

rs_2504194332

1 SubmittersRCV002636991

NM_003384.3(VRK1):c.1069-2A>G

SNV
Germline

Chr14:96876028

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390932340

rs_2504251871

1 SubmittersRCV002863646

NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr14:96833493

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390930726

rs_761254060

1 SubmittersRCV003016872

NM_003384.3(VRK1):c.216+1G>A

SNV
Germline

Chr14:96837818

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA7338882

rs_774518440

1 SubmittersRCV003043515

NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)

SNV
Germline

Chr9:37780804

Likely pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA373474733

rs_1258608435

1 SubmittersRCV003225691

NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)

SNV
Germline

Chr14:96852920

Pathogenic

Inborn genetic diseases
Pontocerebellar hypoplasia type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA390930408

rs_1257821102

2 SubmittersRCV003282068 RCV003507492

NM_003384.3(VRK1):c.374+1G>T

SNV
Germline

Chr14:96847345

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390930190

rs_2504169446

1 SubmittersRCV003507556

NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)

SNV
Germline

Chr14:96853132

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390930599

rs_2504185348

1 SubmittersRCV003507656

NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)

SNV
Germline

Chr14:96833502

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390930743

rs_868010710

1 SubmittersRCV003508555

NM_003384.3(VRK1):c.161-2A>G

SNV
Germline

Chr14:96837760

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931796

rs_2504141901

1 SubmittersRCV003506816

NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)

SNV
Germline

Chr9:37780793

Pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA373474712

rs_944335096

1 SubmittersRCV003529833

NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)

SNV
Germline

Chr9:37785044

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA5062897

rs_773436764

2 SubmittersRCV003529892

NM_003384.3(VRK1):c.287-2A>C

SNV
Germline

Chr14:96847255

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390929988

rs_2504169004

1 SubmittersRCV003620836

NM_016042.4(EXOSC3):c.325-1G>T

SNV
Germline

Chr9:37784064

Likely pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA373475593

rs_2489888636

1 SubmittersRCV003646533

NM_003384.3(VRK1):c.483+1G>A

SNV
Germline

Chr14:96852940

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390930452

rs_2504184408

1 SubmittersRCV003621418

NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)

SNV
Germline

Chr9:37785044

Pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA192954244

rs_773436764

1 SubmittersRCV003647130

NM_003384.3(VRK1):c.576+1G>A

SNV
Germline

Chr14:96853167

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390930675

rs_1888018806

1 SubmittersRCV003836653

NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)

SNV
Germline

Chr14:96856230

Pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931587

rs_943810223

1 SubmittersRCV003831271

NM_003384.3(VRK1):c.830+1G>C

SNV
Germline

Chr14:96856251

Likely pathogenic

Pontocerebellar hypoplasia type 1A

Criteria Provided
Single Submitter

CA390931636

rs_2504194954

1 SubmittersRCV003867784

NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)

SNV
Germline

Chr9:37785042

Pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

CA373476226

rs_1198691735

1 SubmittersRCV003876594

NM_003384.3(VRK1):c.287-2A>G

SNV
Germline

Chr14:96847255

Likely pathogenic

Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10

Criteria Provided
Single Submitter

1 SubmittersRCV005009416

NM_016042.4(EXOSC3):c.627-1G>C

SNV
Germline

Chr9:37780881

Likely pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005049120

NM_016042.4(EXOSC3):c.325-1G>A

SNV
Germline

Chr9:37784064

Likely pathogenic

Pontocerebellar hypoplasia type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005048405

NM_006831.3(CLP1):c.346C>T (p.Arg116Ter)

SNV
Germline

Chr11:57659822

Likely pathogenic

Pontocerebellar hypoplasia type 10

Criteria Provided
Single Submitter

1 SubmittersRCV005050247

NM_006831.3(CLP1):c.907G>T (p.Glu303Ter)

SNV
Germline

Chr11:57661065

Likely pathogenic

Pontocerebellar hypoplasia type 10

Criteria Provided
Single Submitter

1 SubmittersRCV005050248

NM_003384.3(VRK1):c.286+2T>G

SNV
Germline

Chr14:96846166

Likely pathogenic

Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10

Criteria Provided
Single Submitter

1 SubmittersRCV005356935