Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)	SNV Germline	Chr11:6394446	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA252509	rs_120074119	5 SubmittersRCV000003116 RCV001248875 RCV001851600
NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg)	SNV Germline	Chr11:6393667	Pathogenic	Niemann-Pick disease, type B	No Assertion Criteria Provided	CA252511	rs_267607073	1 SubmittersRCV000003117
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)	SNV Germline	Chr11:6391853	Pathogenic	Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA252513	rs_120074120	4 SubmittersRCV000003118 RCV001248867 RCV001390954
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)	SNV Germline	Chr11:6391795	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Condition: not provided Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A not specified Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA252517	rs_120074122	8 SubmittersRCV000003121 RCV000723418 RCV001248871 RCV001851601 RCV002468958 RCV003472960
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)	SNV Germline	Chr11:6393278	Likely pathogenic	Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA252519	rs_120074123	3 SubmittersRCV000003122 RCV001248870 RCV002512692
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	SNV Germline	Chr11:6391976	Pathogenic	Niemann-Pick disease, type A Condition: not provided Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA221154	rs_120074124	11 SubmittersRCV000003123 RCV000175622 RCV000192222 RCV000984009 RCV001380607
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)	SNV Germline	Chr11:6393301	Pathogenic	Niemann-pick disease, intermediate, protracted neurovisceral Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115899	rs_120074125	7 SubmittersRCV000003125 RCV000410490 RCV001248981 RCV000797253 RCV004546410
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	SNV Germline	Chr11:6393620	Pathogenic	Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252523	rs_120074126	15 SubmittersRCV000003126 RCV000192225 RCV000411474 RCV000634570 RCV000723415
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	SNV Germline	Chr11:6393680	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A not specified Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts	CA252525	rs_120074127	12 SubmittersRCV000003127 RCV000193674 RCV000372224 RCV000634567 RCV000780732 RCV001248934
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)	SNV Germline	Chr11:6391945	Pathogenic	Niemann-Pick disease, type B Niemann-pick disease, intermediate, protracted neurovisceral Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A not specified Inborn genetic diseases Sphingomyelin/cholesterol lipidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115901	rs_120074128	9 SubmittersRCV000003128 RCV000003129 RCV000169297 RCV000812595 RCV000781865 RCV002512693 RCV001248931 RCV003333947
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)	SNV Germline	Chr11:6394006	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A not specified Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA252527	rs_267607075	7 SubmittersRCV000003130 RCV000780737 RCV001249038 RCV001824114 RCV001851602
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)	SNV Germline	Chr11:6393961	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA252530	rs_267607074	3 SubmittersRCV000003131 RCV001379382
NM_000543.5(SMPD1):c.1092-1G>C	SNV Germline	Chr11:6393215	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA221143	rs_398123474	8 SubmittersRCV000177083 RCV000410331 RCV001273166 RCV001380609
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)	SNV Germline	Chr11:6393652	Likely pathogenic	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter	CA221144	rs_398123475	2 SubmittersRCV000178118 RCV000984311 RCV000984310
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	SNV Germline	Chr11:6393981	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B not specified Sphingomyelin/cholesterol lipidosis SMPD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA221147	rs_182812968	10 SubmittersRCV000169170 RCV000178791 RCV000688387 RCV000781863 RCV000192226 RCV003925040
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	SNV Germline	Chr11:6394335	Pathogenic	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis See cases	Criteria Provided Multiple Submitters No Conflicts	CA221151	rs_398123478	11 SubmittersRCV000179326 RCV000700954 RCV000984309 RCV000984308 RCV001248882 RCV002251966
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)	SNV Germline	Chr11:6391822	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Condition: not provided Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA266816	rs_398123479	8 SubmittersRCV000175626 RCV000414126 RCV001248868 RCV000821795 RCV000984226
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	SNV Germline	Chr11:6391804	Pathogenic/Likely pathogenic	Ceroid lipofuscinosis, neuronal, 6A Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA267590	rs_587779408	10 SubmittersRCV000087097 RCV000169278 RCV001248881 RCV000594578 RCV000689686
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	SNV Germline	Chr11:6394204	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA234971	rs_120074117	8 SubmittersRCV000179324 RCV000806406 RCV001248980 RCV001527430 RCV001814072
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	SNV Germline	Chr11:6391540	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts	CA273374	rs_727504166	9 SubmittersRCV000153979 RCV000723416 RCV001045638 RCV001174779 RCV001248935
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)	SNV Germline	Chr11:6390694	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type B SMPD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274022	rs_786204506	8 SubmittersRCV000169189 RCV001199862 RCV001219345 RCV003947446
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)	SNV Germline	Chr11:6393985	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts	CA274348	rs_753508874	8 SubmittersRCV000169478 RCV000521803 RCV000802459 RCV001249039
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)	SNV Germline	Chr11:6394516	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274179	rs_370129081	7 SubmittersRCV000169329 RCV001208506 RCV001248877 RCV001781526
NM_000543.5(SMPD1):c.103C>G (p.Leu35Val)	SNV Germline	Chr11:6390701	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA238623	rs_201367689	4 SubmittersRCV000173158 RCV001242007 RCV003258676
NM_000543.5(SMPD1):c.138G>T (p.Ala46=)	SNV Germline	Chr11:6390736	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA238625	rs_200763765	2 SubmittersRCV000173159 RCV002054038
NM_000543.5(SMPD1):c.753G>A (p.Lys251=)	SNV Germline	Chr11:6391818	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA241362	rs_374458858	2 SubmittersRCV000175630 RCV002056938
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)	SNV Germline	Chr11:6391952	Conflicting classifications of pathogenicity	not specified Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA201554	rs_35824453	9 SubmittersRCV000175631 RCV000224205 RCV000383492 RCV001081402
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu)	SNV Germline	Chr11:6393633	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA245141	rs_794727629	2 SubmittersRCV000178119 RCV001852206
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)	SNV Germline	Chr11:6393933	Conflicting classifications of pathogenicity	Condition: not provided not specified Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA245953	rs_794727705	3 SubmittersRCV000178790 RCV003387789 RCV002516782
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)	SNV Germline	Chr11:6394309	Conflicting classifications of pathogenicity	Condition: not provided not specified Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA246587	rs_199915216	5 SubmittersRCV000179323 RCV000259165 RCV001084948 RCV001107857
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)	SNV Germline	Chr11:6394261	Conflicting classifications of pathogenicity	not specified Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA246589	rs_142787001	15 SubmittersRCV000179328 RCV000962425 RCV001081864 RCV001107855 RCV001249037 RCV001786338 RCV003967440
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	SNV Germline	Chr11:6394203	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis SMPD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA275340	rs_769904764	8 SubmittersRCV000179329 RCV000674497 RCV000700960 RCV001248982 RCV003955080
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)	SNV Germline	Chr11:6391481	Pathogenic/Likely pathogenic	Sphingomyelin/cholesterol lipidosis Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA347285	rs_797044797	4 SubmittersRCV000192219 RCV001169955 RCV001582677 RCV003765159
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)	SNV Germline	Chr11:6391657	Conflicting classifications of pathogenicity	Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type B Condition: not provided	Criteria Provided Conflicting Classifications	CA347287	rs_797044798	7 SubmittersRCV000192220 RCV001004576 RCV001194004 RCV001852412 RCV003488441
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp)	SNV Germline	Chr11:6392141	Pathogenic	Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter	CA347291	rs_797044800	2 SubmittersRCV000192224 RCV001380608
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)	SNV Germline	Chr11:6393898	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA5852881	rs_747143343	3 SubmittersRCV001004367 RCV001384265
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro)	SNV Germline	Chr11:6394384	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter	CA10576033	rs_875989836	2 SubmittersRCV000211547 RCV003765358
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)	SNV Germline	Chr11:6394015	Conflicting classifications of pathogenicity	Condition: not provided not specified Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852895	rs_141641266	11 SubmittersRCV000224864 RCV000260007 RCV000671913 RCV001082792
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)	SNV Germline	Chr11:6390606	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852452	rs_199836262	10 SubmittersRCV000397745 RCV000674958 RCV000819250 RCV001276409 RCV003417882
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)	SNV Germline	Chr11:6394343	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA5852951	rs_201659696	4 SubmittersRCV000337192 RCV001085492 RCV001102621
NM_000543.5(SMPD1):c.1091+9C>T	SNV Germline	Chr11:6392165	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A not specified Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis	Criteria Provided Conflicting Classifications	CA5852754	rs_143612450	5 SubmittersRCV000294629 RCV000372496 RCV000889391 RCV001249053
NM_000543.5(SMPD1):c.319-17C>A	SNV Germline	Chr11:6391367	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852568	rs_148370501	2 SubmittersRCV000340004 RCV002059211
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)	SNV Germline	Chr11:6394310	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis Condition: not provided	Criteria Provided Conflicting Classifications	CA5852945	rs_552841217	6 SubmittersRCV000261207 RCV000305957 RCV000970644 RCV001249035 RCV003401256
NM_000543.5(SMPD1):c.441G>A (p.Val147=)	SNV Germline	Chr11:6391506	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852604	rs_148944108	7 SubmittersRCV000325277 RCV000357086 RCV000970717 RCV001081186 RCV001248936 RCV003957470
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	SNV Germline	Chr11:6391754	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A not specified	Criteria Provided Conflicting Classifications	CA5852660	rs_141387770	8 SubmittersRCV000383577 RCV000671461 RCV001248983 RCV001087433 RCV002282109
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)	SNV Germline	Chr11:6393230	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA10605962	rs_372287825	6 SubmittersRCV000292122 RCV001004584 RCV001249051 RCV001218398
NM_000543.5(SMPD1):c.72C>A (p.Thr24=)	SNV Germline	Chr11:6390670	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA10606056	rs_886043870	2 SubmittersRCV000353259 RCV002518034
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)	SNV Germline	Chr11:6391827	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A Inborn genetic diseases SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852680	rs_143939609	5 SubmittersRCV000328518 RCV001087547 RCV001828268 RCV003298347 RCV003930179
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)	SNV Germline	Chr11:6394300	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852942	rs_35122256	7 SubmittersRCV000370628 RCV000399404 RCV000675398 RCV001084821 RCV001249036 RCV003930180
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)	SNV Germline	Chr11:6394272	Conflicting classifications of pathogenicity	not specified Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852935	rs_147258619	8 SubmittersRCV000398280 RCV000675397 RCV001084810 RCV001107856 RCV003920163
NM_000543.5(SMPD1):c.627G>A (p.Leu209=)	SNV Germline	Chr11:6391692	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA5852651	rs_200443318	2 SubmittersRCV000383570 RCV002518135
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)	SNV Germline	Chr11:6391438	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Inborn genetic diseases SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852589	rs_370048730	5 SubmittersRCV000392507 RCV001084785 RCV001276411 RCV002348029 RCV003910046
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)	SNV Germline	Chr11:6391794	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Condition: not provided Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A Inborn genetic diseases SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852672	rs_149476159	7 SubmittersRCV000267818 RCV000591908 RCV001280458 RCV001409993 RCV003338568 RCV003950025
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)	SNV Germline	Chr11:6391873	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852691	rs_202244080	5 SubmittersRCV000382375 RCV000735167 RCV001085518 RCV003977882
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)	SNV Germline	Chr11:6391414	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852586	rs_202206564	5 SubmittersRCV000297445 RCV000728558 RCV001085400 RCV003950024
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)	SNV Germline	Chr11:6390895	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Inborn genetic diseases Condition: not provided SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852541	rs_146630228	7 SubmittersRCV000407377 RCV000634575 RCV001248938 RCV002436146 RCV003401298 RCV003940157
NM_000543.5(SMPD1):c.1340+12A>T	SNV Germline	Chr11:6393705	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852860	rs_140221837	2 SubmittersRCV000400805 RCV002056215
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=)	SNV Germline	Chr11:6394319	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA10638917	rs_886048447	2 SubmittersRCV003765796 RCV000360554
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)	SNV Germline	Chr11:6390664	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA10639514	rs_886048444	2 SubmittersRCV000290689 RCV002056214
NM_000543.5(SMPD1):c.1340+8G>A	SNV Germline	Chr11:6393701	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852857	rs_373742012	2 SubmittersRCV000335593 RCV001407437
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)	SNV Germline	Chr11:6390839	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA16041477	rs_868423827	3 SubmittersRCV000410072 RCV000763264
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	SNV Germline	Chr11:6391622	Pathogenic	Niemann-Pick disease, type B Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts	CA16041479	rs_1057517195	9 SubmittersRCV000589803 RCV000723417 RCV001004575 RCV001045155 RCV001248932
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)	SNV Germline	Chr11:6391753	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041480	rs_989639224	7 SubmittersRCV000409293 RCV001229670 RCV001248876 RCV002223835
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	SNV Germline	Chr11:6391813	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A not specified Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA5852678	rs_750779804	8 SubmittersRCV000409846 RCV000780730 RCV001248930 RCV001250174
NM_000543.5(SMPD1):c.1264-1G>T	SNV Germline	Chr11:6393616	Likely pathogenic	Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA16041484	rs_1057516454	6 SubmittersRCV000411029 RCV001249050 RCV001379856
NM_000543.5(SMPD1):c.1341-1G>A	SNV Germline	Chr11:6393895	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA16041486	rs_1057516854	4 SubmittersRCV000410948 RCV000733252 RCV001850949
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)	SNV Germline	Chr11:6394229	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA16041489	rs_943924098	4 SubmittersRCV000410839 RCV003114524 RCV003766123
NM_000543.5(SMPD1):c.1264-1G>A	SNV Germline	Chr11:6393616	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA16605962	rs_1057516454	2 SubmittersRCV000443668 RCV003766213
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	SNV Germline	Chr11:6393982	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B SMPD1-related disorder not specified Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852891	rs_763566905	10 SubmittersRCV000436575 RCV000984224 RCV001248879 RCV001810448 RCV003959931 RCV003114556 RCV003313954
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	SNV Germline	Chr11:6392060	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type A Condition: not provided Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852724	rs_202081954	14 SubmittersRCV000454404 RCV000672505 RCV000727004 RCV001249055 RCV001242152 RCV003152604
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)	SNV Germline	Chr11:6393629	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts	CA379374228	rs_1554935136	5 SubmittersRCV000498689 RCV000665319 RCV001851371 RCV004555866
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)	SNV Germline	Chr11:6394267	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications	CA379376203	rs_371837210	3 SubmittersRCV000504182 RCV002524354
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)	SNV Germline	Chr11:6393241	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA379372866	rs_1342372980	3 SubmittersRCV000594397 RCV003767346 RCV003992340
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	SNV Germline	Chr11:6391807	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA217299538	rs_200763423	7 SubmittersRCV000591054 RCV001004578 RCV001248869 RCV001385503 RCV003338674
NM_000543.5(SMPD1):c.1341-9T>C	SNV Germline	Chr11:6393887	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852879	rs_528939343	3 SubmittersRCV000593182 RCV001078998 RCV003952943
NM_000543.5(SMPD1):c.319-5T>C	SNV Germline	Chr11:6391379	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA658797586	rs_958654789	3 SubmittersRCV000598474 RCV002062010 RCV003983137
NM_000543.5(SMPD1):c.1091+10G>A	SNV Germline	Chr11:6392166	Conflicting classifications of pathogenicity	Condition: not provided Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852755	rs_148067213	3 SubmittersRCV000592728 RCV001249052 RCV001087561
NM_000543.5(SMPD1):c.657G>A (p.Thr219=)	SNV Germline	Chr11:6391722	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5852656	rs_202032347	3 SubmittersRCV000596901 RCV001426612 RCV002368017
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)	SNV Germline	Chr11:6391773	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Inborn genetic diseases SMPD1-related disorder	Criteria Provided Conflicting Classifications	CA5852667	rs_374604948	5 SubmittersRCV000596537 RCV001080258 RCV001276413 RCV002368020 RCV003962705
NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln)	SNV Germline	Chr11:6390834	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852531	rs_201647015	2 SubmittersRCV000591040 RCV001442227
NM_000543.5(SMPD1):c.1191C>T (p.Asn397=)	SNV Germline	Chr11:6393315	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852804	rs_766418804	2 SubmittersRCV000596928 RCV002065168
NM_000543.5(SMPD1):c.255G>A (p.Gly85=)	SNV Germline	Chr11:6390853	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA472909580	rs_1554933929	2 SubmittersRCV000594463 RCV003767397
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)	SNV Germline	Chr11:6392060	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852723	rs_202081954	3 SubmittersRCV000595643 RCV002506436
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu)	SNV Germline	Chr11:6391616	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications	CA5852623	rs_760203204	2 SubmittersRCV000596004 RCV001037515
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)	SNV Germline	Chr11:6391574	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts	CA379369722	rs_1554934193	3 SubmittersRCV000634568 RCV001004574
NM_000543.5(SMPD1):c.318+2T>C	SNV Germline	Chr11:6390918	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_1225462507	3 SubmittersRCV000666977 RCV001378222
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)	SNV Germline	Chr11:6391593	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts		rs_1554934212	3 SubmittersRCV000667853 RCV001390953 RCV001420709
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)	SNV Germline	Chr11:6391745	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_764317969	5 SubmittersRCV000668447 RCV001527418 RCV001553551 RCV003767963
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)	SNV Germline	Chr11:6392005	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Condition: not provided Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_1228068212	6 SubmittersRCV000672037 RCV000727589 RCV001273164 RCV001868260 RCV004527729
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)	SNV Germline	Chr11:6392091	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_281860668	2 SubmittersRCV000665335 RCV003767946
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)	SNV Germline	Chr11:6393639	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_281860669	2 SubmittersRCV000666528 RCV002530686
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)	SNV Germline	Chr11:6394209	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_771336819	3 SubmittersRCV000674077 RCV001861832
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)	SNV Germline	Chr11:6390650	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_1428487333	2 SubmittersRCV000667531 RCV002530714
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)	SNV Germline	Chr11:6391553	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_780134410	3 SubmittersRCV000669477 RCV001868233
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	SNV Germline	Chr11:6393257	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Condition: not provided Sphingomyelin/cholesterol lipidosis	Criteria Provided Conflicting Classifications		rs_559088058	8 SubmittersRCV000670710 RCV001056291 RCV001509398 RCV003226361
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)	SNV Germline	Chr11:6394240	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis not specified SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_200652683	9 SubmittersRCV000664533 RCV000731478 RCV001085567 RCV001271474 RCV003488785 RCV003945695
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)	SNV Germline	Chr11:6394441	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Condition: not provided Sphingomyelin/cholesterol lipidosis	Criteria Provided Conflicting Classifications		rs_1554935669	7 SubmittersRCV000664755 RCV001527434 RCV003133487 RCV003330876
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	SNV Germline	Chr11:6390912	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_751269562	5 SubmittersRCV000672040 RCV001250173
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)	SNV Germline	Chr11:6391598	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B not specified	Criteria Provided Conflicting Classifications		rs_749780769	5 SubmittersRCV000667895 RCV000734780 RCV001868217 RCV002233100
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)	SNV Germline	Chr11:6392020	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_757934797	6 SubmittersRCV000671268 RCV001527420 RCV003767992
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val)	SNV Germline	Chr11:6393916	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Condition: not provided	Criteria Provided Conflicting Classifications		rs_1402734026	3 SubmittersRCV000669613 RCV002532089 RCV003223664
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)	SNV Germline	Chr11:6394512	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_750433951	2 SubmittersRCV000671468 RCV001215758
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)	SNV Germline	Chr11:6390626	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A SMPD1-related disorder Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_1205990349	4 SubmittersRCV000664760 RCV003980292 RCV001386465
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)	SNV Germline	Chr11:6390659	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_1554933751	3 SubmittersRCV000670505 RCV001868244
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)	SNV Germline	Chr11:6390693	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts		rs_1554933780	3 SubmittersRCV000669272 RCV003767973
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)	SNV Germline	Chr11:6392023	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_779927660	4 SubmittersRCV000672229 RCV000730329 RCV001527421
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)	SNV Germline	Chr11:6393633	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis	Criteria Provided Conflicting Classifications		rs_794727629	5 SubmittersRCV000778333 RCV000689782 RCV003230573
NM_000543.5(SMPD1):c.1197G>A (p.Thr399=)	SNV Germline	Chr11:6393321	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_755182589	2 SubmittersRCV000727984 RCV001086882
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)	SNV Germline	Chr11:6391402	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Inborn genetic diseases SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_140202512	5 SubmittersRCV000727987 RCV001484671 RCV002458336 RCV003965503
NM_000543.5(SMPD1):c.39C>T (p.Pro13=)	SNV Germline	Chr11:6390637	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_775473869	2 SubmittersRCV000728118 RCV002067082
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)	SNV Germline	Chr11:6390681	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Condition: not provided Inborn genetic diseases SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_556155962	7 SubmittersRCV000728133 RCV000915596 RCV001107111 RCV001357849 RCV003165955 RCV003908018
NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=)	SNV Germline	Chr11:6394328	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_1181161932	2 SubmittersRCV000728347 RCV002535069
NM_000543.5(SMPD1):c.338G>A (p.Arg113His)	SNV Germline	Chr11:6391403	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_149770879	2 SubmittersRCV000728445 RCV002067087
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)	SNV Germline	Chr11:6390832	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_575601110	4 SubmittersRCV000728464 RCV001083296 RCV001825448 RCV002442552
NM_000543.5(SMPD1):c.1386G>A (p.Val462=)	SNV Germline	Chr11:6393941	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_763521056	3 SubmittersRCV000728555 RCV002388359 RCV001868934
NM_000543.5(SMPD1):c.1620G>A (p.Arg540=)	SNV Germline	Chr11:6394331	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_778746534	2 SubmittersRCV000729844 RCV001446366
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)	SNV Germline	Chr11:6390654	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Inborn genetic diseases SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_144465428	6 SubmittersRCV000730126 RCV002485872 RCV002535142 RCV003892624
NM_000543.5(SMPD1):c.75C>T (p.Ala25=)	SNV Germline	Chr11:6390673	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_1312090680	2 SubmittersRCV000730287 RCV002067106
NM_000543.5(SMPD1):c.90C>A (p.Leu30=)	SNV Germline	Chr11:6390688	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_748793138	3 SubmittersRCV000731404 RCV003303213 RCV002061000
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)	SNV Germline	Chr11:6394386	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_149939736	6 SubmittersRCV000732105 RCV001245456 RCV001766586 RCV003938115
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)	SNV Germline	Chr11:6394298	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_140770832	3 SubmittersRCV000733580 RCV001457913 RCV003892660
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)	SNV Germline	Chr11:6391632	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis	Criteria Provided Conflicting Classifications		rs_750187574	4 SubmittersRCV000733795 RCV001086249 RCV001276412
NM_000543.5(SMPD1):c.1821T>A (p.Ala607=)	SNV Germline	Chr11:6394532	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_1564928040	2 SubmittersRCV000733899 RCV002536506
NM_000543.5(SMPD1):c.1044C>T (p.Ala348=)	SNV Germline	Chr11:6392109	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_555187617	3 SubmittersRCV000734042 RCV001079532 RCV002397514
NM_000543.5(SMPD1):c.102C>G (p.Gly34=)	SNV Germline	Chr11:6390700	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_889113421	3 SubmittersRCV000734404 RCV001081574 RCV003892672
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)	SNV Germline	Chr11:6394403	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis Inborn genetic diseases SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_369787650	5 SubmittersRCV000734792 RCV001087771 RCV001273167 RCV002406673 RCV003955481
NM_000543.5(SMPD1):c.558G>A (p.Pro186=)	SNV Germline	Chr11:6391623	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1464825418	4 SubmittersRCV000735141 RCV001830646 RCV001482878 RCV003165999
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)	SNV Germline	Chr11:6391747	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_1564923612	3 SubmittersRCV000778332 RCV003768424
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)	SNV Germline	Chr11:6392038	Pathogenic/Likely pathogenic	not specified Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_761308217	2 SubmittersRCV000781870 RCV000808902
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)	SNV Germline	Chr11:6392119	Pathogenic/Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A Condition: not provided Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts		rs_201550531	5 SubmittersRCV000805997 RCV001004583 RCV001784429 RCV001269099
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)	SNV Germline	Chr11:6394013	Pathogenic/Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_281860665	4 SubmittersRCV000819539 RCV001255598 RCV003473504
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg)	SNV Germline	Chr11:6394258	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Condition: not provided SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_754979734	3 SubmittersRCV000821709 RCV002464328 RCV003396448
NM_000543.5(SMPD1):c.229G>A (p.Val77Met)	SNV Germline	Chr11:6390827	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Niemann-Pick disease, type A Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_560531338	2 SubmittersRCV000967384 RCV002445115
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)	SNV Germline	Chr11:6391974	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_201134693	4 SubmittersRCV000884869 RCV001104454 RCV003955885
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)	SNV Germline	Chr11:6391912	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_752148586	3 SubmittersRCV001004580 RCV001251129 RCV001366811
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter)	SNV Germline	Chr11:6392090	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts		rs_1470998208	2 SubmittersRCV001004582 RCV001862735
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)	SNV Germline	Chr11:6393376	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts		rs_755160837	7 SubmittersRCV001004585 RCV001213865 RCV003447572
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg)	SNV Germline	Chr11:6393650	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts		rs_779528546	2 SubmittersRCV001004366 RCV002549241
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)	SNV Germline	Chr11:6391763	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_1847925080	2 SubmittersRCV001040553
NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter)	SNV Germline	Chr11:6393246	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_1848015403	1 SubmittersRCV001063146
NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter)	SNV Germline	Chr11:6393664	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1848043657	1 SubmittersRCV001039240
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)	SNV Germline	Chr11:6393949	Pathogenic/Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_1319643225	3 SubmittersRCV001071343 RCV001527428
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)	SNV Germline	Chr11:6392123	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_772473982	5 SubmittersRCV001107211 RCV002067790 RCV001577517 RCV003160636
NM_000543.5(SMPD1):c.1335A>G (p.Val445=)	SNV Germline	Chr11:6393688	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications		rs_769400504	3 SubmittersRCV001107212 RCV001424018 RCV003898100
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)	SNV Germline	Chr11:6394515	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Conflicting Classifications		rs_763099671	3 SubmittersRCV001104540 RCV001281431
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)	SNV Germline	Chr11:6393268	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Niemann-Pick disease, type A not specified Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_281860666	3 SubmittersRCV001241647 RCV003117860 RCV003462815
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)	SNV Germline	Chr11:6391567	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts		rs_1847910654	4 SubmittersRCV001262263 RCV001383208 RCV003387986
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro)	SNV Germline	Chr11:6390888	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1847878243	1 SubmittersRCV001281395
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg)	SNV Germline	Chr11:6391529	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1369175943	1 SubmittersRCV001281396
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn)	SNV Germline	Chr11:6391685	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1847921260	1 SubmittersRCV001281399
NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter)	SNV Germline	Chr11:6391697	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1847921909	1 SubmittersRCV001281401
NM_000543.5(SMPD1):c.634G>C (p.Asp212His)	SNV Germline	Chr11:6391699	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_772889728	1 SubmittersRCV001281402
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)	SNV Germline	Chr11:6391732	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_1847923379	2 SubmittersRCV001281403
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg)	SNV Germline	Chr11:6391819	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1847929817	1 SubmittersRCV001281404
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro)	SNV Germline	Chr11:6391862	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1847932355	1 SubmittersRCV001281405
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys)	SNV Germline	Chr11:6391892	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1847934777	1 SubmittersRCV001281406
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg)	SNV Germline	Chr11:6391946	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1847939431	1 SubmittersRCV001281407
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro)	SNV Germline	Chr11:6391958	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1847940504	1 SubmittersRCV001281408
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser)	SNV Germline	Chr11:6392020	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_757934797	1 SubmittersRCV001281409
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr)	SNV Germline	Chr11:6392066	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_759950370	1 SubmittersRCV001281411
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly)	SNV Germline	Chr11:6392155	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1242180535	1 SubmittersRCV001281413
NM_000543.5(SMPD1):c.1091+1G>A	SNV Germline	Chr11:6392157	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts		rs_1847955457	2 SubmittersRCV001281414
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His)	SNV Germline	Chr11:6393229	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1848014133	1 SubmittersRCV001281416
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)	SNV Germline	Chr11:6393326	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications		rs_1206562843	2 SubmittersRCV001281417
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp)	SNV Germline	Chr11:6393357	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_34555120	1 SubmittersRCV001281418
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp)	SNV Germline	Chr11:6393916	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1402734026	1 SubmittersRCV001281420
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr)	SNV Germline	Chr11:6393930	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1848060631	1 SubmittersRCV001281421
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg)	SNV Germline	Chr11:6393931	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1848060729	1 SubmittersRCV001281422
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)	SNV Germline	Chr11:6393961	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B not specified	Criteria Provided Conflicting Classifications		rs_267607074	3 SubmittersRCV001281423 RCV003235538
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly)	SNV Germline	Chr11:6393981	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_182812968	1 SubmittersRCV001281424
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His)	SNV Germline	Chr11:6394200	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1848079553	1 SubmittersRCV001281425
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr)	SNV Germline	Chr11:6394237	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B not specified	Criteria Provided Conflicting Classifications		rs_764772735	2 SubmittersRCV001281426 RCV004526103
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile)	SNV Germline	Chr11:6394264	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_752679988	1 SubmittersRCV001281427
NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter)	SNV Germline	Chr11:6394317	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1848088118	1 SubmittersRCV001281428
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg)	SNV Germline	Chr11:6394497	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1848099174	1 SubmittersRCV001281430
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe)	SNV Germline	Chr11:6391975	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_2134012389	1 SubmittersRCV001378395
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)	SNV Germline	Chr11:6391904	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_1847935299	3 SubmittersRCV001390955 RCV001831407
NM_000543.5(SMPD1):c.1264-5A>G	SNV Germline	Chr11:6393612	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Niemann-Pick disease, type A Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_538875655	2 SubmittersRCV001506942 RCV002564185
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys)	SNV Germline	Chr11:6391534	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_2134009384	1 SubmittersRCV001527414
NM_000543.5(SMPD1):c.605G>A (p.Arg202His)	SNV Germline	Chr11:6391670	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_757850587	4 SubmittersRCV001527415 RCV002469402 RCV002568141 RCV004039188
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser)	SNV Germline	Chr11:6391733	Pathogenic	Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_2134010914	1 SubmittersRCV001527417
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp)	SNV Germline	Chr11:6391790	Likely pathogenic	Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1057435197	1 SubmittersRCV001527419
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)	SNV Germline	Chr11:6392153	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_2134013368	2 SubmittersRCV001527422 RCV002568858
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)	SNV Germline	Chr11:6393272	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts		rs_776442314	4 SubmittersRCV001527424 RCV001873722 RCV003323898
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=)	SNV Germline	Chr11:6393291	Likely pathogenic	Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1162794351	1 SubmittersRCV001527426
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His)	SNV Germline	Chr11:6393295	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Multiple Submitters No Conflicts		rs_2134017443	2 SubmittersRCV001527425 RCV001655799
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys)	SNV Germline	Chr11:6393693	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_2134019797	2 SubmittersRCV001527427 RCV003463044
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter)	SNV Germline	Chr11:6394229	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_943924098	1 SubmittersRCV001527431
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val)	SNV Germline	Chr11:6394494	Likely pathogenic	Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts		rs_2134024349	2 SubmittersRCV001527435 RCV004526854
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)	SNV Germline	Chr11:6390750	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Niemann-Pick disease, type A Condition: not provided Sphingomyelin/cholesterol lipidosis	Criteria Provided Conflicting Classifications		rs_748589919	4 SubmittersRCV001579138 RCV001579137 RCV003136114 RCV003235590
NM_000543.5(SMPD1):c.1264-2A>G	SNV Germline	Chr11:6393615	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_774309925	2 SubmittersRCV001868869 RCV003464142
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro)	SNV Germline	Chr11:6394204	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_120074117	1 SubmittersRCV002013686
NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter)	SNV Germline	Chr11:6392097	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_2134013121	1 SubmittersRCV001870930
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu)	SNV Germline	Chr11:6393950	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B not specified	Criteria Provided Conflicting Classifications		rs_1848061944	2 SubmittersRCV001984353 RCV003402025
NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln)	SNV Germline	Chr11:6391807	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_200763423	1 SubmittersRCV002037625
NM_000543.5(SMPD1):c.611T>A (p.Leu204His)	SNV Germline	Chr11:6391676	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_2134010621	1 SubmittersRCV002009894
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn)	SNV Germline	Chr11:6393632	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_760930408	1 SubmittersRCV001964045
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu)	SNV Germline	Chr11:6393948	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_1258231226	1 SubmittersRCV002029834
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter)	SNV Germline	Chr11:6393918	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_2134021058	1 SubmittersRCV001950889
NM_000543.5(SMPD1):c.319-1G>A	SNV Germline	Chr11:6391383	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_1352986086	2 SubmittersRCV002044012 RCV004571422
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr)	SNV Germline	Chr11:6392026	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_2134012749	1 SubmittersRCV001975994
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val)	SNV Germline	Chr11:6392141	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_797044800	1 SubmittersRCV002017483
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser)	SNV Germline	Chr11:6393641	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_140688153	1 SubmittersRCV002017523
NM_000543.5(SMPD1):c.1340+2T>G	SNV Germline	Chr11:6393695	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_1301641750	1 SubmittersRCV002017538
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val)	SNV Germline	Chr11:6391975	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_2134012389	1 SubmittersRCV002001334
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu)	SNV Germline	Chr11:6391905	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_2134011919	1 SubmittersRCV002004047
NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter)	SNV Germline	Chr11:6393340	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_2134017711	1 SubmittersRCV001908118
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys)	SNV Germline	Chr11:6393256	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_369088417	1 SubmittersRCV002050526
NM_000543.5(SMPD1):c.1263+1G>A	SNV Germline	Chr11:6393388	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_2134018090	2 SubmittersRCV002005714 RCV003475269
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val)	SNV Germline	Chr11:6391556	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_1047531932	1 SubmittersRCV002016966
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)	SNV Germline	Chr11:6391807	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_200763423	2 SubmittersRCV001933891 RCV004571634
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala)	SNV Germline	Chr11:6391796	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_2134011288	1 SubmittersRCV002049634
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn)	SNV Germline	Chr11:6394012	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter		rs_2134021618	1 SubmittersRCV002022940
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln)	SNV Germline	Chr11:6393985	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter		rs_753508874	1 SubmittersRCV001980495
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)	SNV Germline	Chr11:6390765	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts		rs_2134006149	2 SubmittersRCV001863466 RCV003464168
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)	SNV Germline	Chr11:6393377	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_767722360	3 SubmittersRCV002108100 RCV002222756 RCV003138079
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)	SNV Germline	Chr11:6391696	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003062323 RCV003138464
NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)	SNV Germline	Chr11:6393265	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003062328
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)	SNV Germline	Chr11:6393621	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003037365 RCV003331417
NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)	SNV Germline	Chr11:6393684	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003037366
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)	SNV Germline	Chr11:6394006	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003062330
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)	SNV Germline	Chr11:6393256	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003065047 RCV003324069
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)	SNV Germline	Chr11:6392006	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003088035
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)	SNV Germline	Chr11:6392060	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Niemann-Pick disease, type A SMPD1-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003090728 RCV003404064
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)	SNV Germline	Chr11:6391541	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003080268
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)	SNV Germline	Chr11:6391753	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003073358
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)	SNV Germline	Chr11:6394257	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV002599678
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)	SNV Germline	Chr11:6393278	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV002602064
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)	SNV Germline	Chr11:6392059	Conflicting classifications of pathogenicity	Niemann-Pick disease, type B Niemann-Pick disease, type A not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV002720488 RCV003331386
NM_000543.5(SMPD1):c.1340+2T>C	SNV Germline	Chr11:6393695	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002796345 RCV003465835
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)	SNV Germline	Chr11:6392038	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV002857215
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)	SNV Germline	Chr11:6394258	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV002910238
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)	SNV Germline	Chr11:6394539	Conflicting classifications of pathogenicity	Niemann-Pick disease, type A Niemann-Pick disease, type B Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002971836 RCV003138419
NM_000543.5(SMPD1):c.319-2A>G	SNV Germline	Chr11:6391382	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A Niemann-Pick disease, type A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002975493 RCV003465876
NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)	SNV Germline	Chr11:6394268	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV002991766
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)	SNV Germline	Chr11:6393268	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003022199
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)	SNV Germline	Chr11:6393632	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003061886
NM_000543.5(SMPD1):c.1486+5G>C	SNV Germline	Chr11:6394046	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Conflicting Classifications			2 SubmittersRCV003138543 RCV003778789
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)	SNV Germline	Chr11:6394219	Likely pathogenic	Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003317026
NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)	SNV Germline	Chr11:6393292	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003785563
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)	SNV Germline	Chr11:6394540	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003785695
NM_000543.5(SMPD1):c.1792C>T (p.Gln598Ter)	SNV Germline	Chr11:6394503	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003797944
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)	SNV Germline	Chr11:6391675	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003795932
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)	SNV Germline	Chr11:6393913	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003781118
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)	SNV Germline	Chr11:6391796	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003785126
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)	SNV Germline	Chr11:6392059	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003798316
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)	SNV Germline	Chr11:6391814	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003794642
NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)	SNV Germline	Chr11:6393303	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003808105
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)	SNV Germline	Chr11:6393642	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003804332
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)	SNV Germline	Chr11:6393641	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003799285
NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)	SNV Germline	Chr11:6393345	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003800560
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)	SNV Germline	Chr11:6394447	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003809328
NM_000543.5(SMPD1):c.1486+1G>T	SNV Germline	Chr11:6394042	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003801610
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)	SNV Germline	Chr11:6394203	Likely pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003815544
NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)	SNV Germline	Chr11:6391895	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003813260
NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)	SNV Germline	Chr11:6393669	Pathogenic	Niemann-Pick disease, type B Niemann-Pick disease, type A	Criteria Provided Single Submitter			1 SubmittersRCV003807596
NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)	SNV Germline	Chr11:6391984	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003812948
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)	SNV Germline	Chr11:6391698	Likely pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B	Criteria Provided Single Submitter			1 SubmittersRCV003812952

NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)

SNV
Germline

Chr11:6394446

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA252509

rs_120074119

5 SubmittersRCV000003116 RCV001248875 RCV001851600

NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg)

SNV
Germline

Chr11:6393667

Pathogenic

Niemann-Pick disease, type B

No Assertion Criteria Provided

CA252511

rs_267607073

1 SubmittersRCV000003117

NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)

SNV
Germline

Chr11:6391853

Pathogenic

Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA252513

rs_120074120

4 SubmittersRCV000003118 RCV001248867 RCV001390954

NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)

SNV
Germline

Chr11:6391795

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Condition: not provided
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A
not specified
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA252517

rs_120074122

8 SubmittersRCV000003121 RCV000723418 RCV001248871 RCV001851601 RCV002468958 RCV003472960

NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)

SNV
Germline

Chr11:6393278

Likely pathogenic

Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA252519

rs_120074123

3 SubmittersRCV000003122 RCV001248870 RCV002512692

NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)

SNV
Germline

Chr11:6391976

Pathogenic

Niemann-Pick disease, type A
Condition: not provided
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA221154

rs_120074124

11 SubmittersRCV000003123 RCV000175622 RCV000192222 RCV000984009 RCV001380607

NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)

SNV
Germline

Chr11:6393301

Pathogenic

Niemann-pick disease, intermediate, protracted neurovisceral
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115899

rs_120074125

7 SubmittersRCV000003125 RCV000410490 RCV001248981 RCV000797253 RCV004546410

NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)

SNV
Germline

Chr11:6393620

Pathogenic

Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252523

rs_120074126

15 SubmittersRCV000003126 RCV000192225 RCV000411474 RCV000634570 RCV000723415

NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)

SNV
Germline

Chr11:6393680

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
not specified
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA252525

rs_120074127

12 SubmittersRCV000003127 RCV000193674 RCV000372224 RCV000634567 RCV000780732 RCV001248934

NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)

SNV
Germline

Chr11:6391945

Pathogenic

Niemann-Pick disease, type B
Niemann-pick disease, intermediate, protracted neurovisceral
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
not specified
Inborn genetic diseases
Sphingomyelin/cholesterol lipidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115901

rs_120074128

9 SubmittersRCV000003128 RCV000003129 RCV000169297 RCV000812595 RCV000781865 RCV002512693 RCV001248931 RCV003333947

NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)

SNV
Germline

Chr11:6394006

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
not specified
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA252527

rs_267607075

7 SubmittersRCV000003130 RCV000780737 RCV001249038 RCV001824114 RCV001851602

NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)

SNV
Germline

Chr11:6393961

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA252530

rs_267607074

3 SubmittersRCV000003131 RCV001379382

NM_000543.5(SMPD1):c.1092-1G>C

SNV
Germline

Chr11:6393215

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA221143

rs_398123474

8 SubmittersRCV000177083 RCV000410331 RCV001273166 RCV001380609

NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)

SNV
Germline

Chr11:6393652

Likely pathogenic

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

CA221144

rs_398123475

2 SubmittersRCV000178118 RCV000984311 RCV000984310

NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)

SNV
Germline

Chr11:6393981

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
not specified
Sphingomyelin/cholesterol lipidosis
SMPD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA221147

rs_182812968

10 SubmittersRCV000169170 RCV000178791 RCV000688387 RCV000781863 RCV000192226 RCV003925040

NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)

SNV
Germline

Chr11:6394335

Pathogenic

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA221151

rs_398123478

11 SubmittersRCV000179326 RCV000700954 RCV000984309 RCV000984308 RCV001248882 RCV002251966

NM_000543.5(SMPD1):c.757G>C (p.Asp253His)

SNV
Germline

Chr11:6391822

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Condition: not provided
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA266816

rs_398123479

8 SubmittersRCV000175626 RCV000414126 RCV001248868 RCV000821795 RCV000984226

NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)

SNV
Germline

Chr11:6391804

Pathogenic/Likely pathogenic

Ceroid lipofuscinosis, neuronal, 6A
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA267590

rs_587779408

10 SubmittersRCV000087097 RCV000169278 RCV001248881 RCV000594578 RCV000689686

NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)

SNV
Germline

Chr11:6394204

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Abnormality of metabolism/homeostasis

Criteria Provided
Multiple Submitters
No Conflicts

CA234971

rs_120074117

8 SubmittersRCV000179324 RCV000806406 RCV001248980 RCV001527430 RCV001814072

NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)

SNV
Germline

Chr11:6391540

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA273374

rs_727504166

9 SubmittersRCV000153979 RCV000723416 RCV001045638 RCV001174779 RCV001248935

NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)

SNV
Germline

Chr11:6390694

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type B
SMPD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274022

rs_786204506

8 SubmittersRCV000169189 RCV001199862 RCV001219345 RCV003947446

NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)

SNV
Germline

Chr11:6393985

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA274348

rs_753508874

8 SubmittersRCV000169478 RCV000521803 RCV000802459 RCV001249039

NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)

SNV
Germline

Chr11:6394516

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274179

rs_370129081

7 SubmittersRCV000169329 RCV001208506 RCV001248877 RCV001781526

NM_000543.5(SMPD1):c.103C>G (p.Leu35Val)

SNV
Germline

Chr11:6390701

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA238623

rs_201367689

4 SubmittersRCV000173158 RCV001242007 RCV003258676

NM_000543.5(SMPD1):c.138G>T (p.Ala46=)

SNV
Germline

Chr11:6390736

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA238625

rs_200763765

2 SubmittersRCV000173159 RCV002054038

NM_000543.5(SMPD1):c.753G>A (p.Lys251=)

SNV
Germline

Chr11:6391818

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA241362

rs_374458858

2 SubmittersRCV000175630 RCV002056938

NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)

SNV
Germline

Chr11:6391952

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA201554

rs_35824453

9 SubmittersRCV000175631 RCV000224205 RCV000383492 RCV001081402

NM_000543.5(SMPD1):c.1280A>T (p.His427Leu)

SNV
Germline

Chr11:6393633

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA245141

rs_794727629

2 SubmittersRCV000178119 RCV001852206

NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)

SNV
Germline

Chr11:6393933

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA245953

rs_794727705

3 SubmittersRCV000178790 RCV003387789 RCV002516782

NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)

SNV
Germline

Chr11:6394309

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA246587

rs_199915216

5 SubmittersRCV000179323 RCV000259165 RCV001084948 RCV001107857

NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)

SNV
Germline

Chr11:6394261

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA246589

rs_142787001

15 SubmittersRCV000179328 RCV000962425 RCV001081864 RCV001107855 RCV001249037 RCV001786338 RCV003967440

NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)

SNV
Germline

Chr11:6394203

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis
SMPD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275340

rs_769904764

8 SubmittersRCV000179329 RCV000674497 RCV000700960 RCV001248982 RCV003955080

NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)

SNV
Germline

Chr11:6391481

Pathogenic/Likely pathogenic

Sphingomyelin/cholesterol lipidosis
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA347285

rs_797044797

4 SubmittersRCV000192219 RCV001169955 RCV001582677 RCV003765159

NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)

SNV
Germline

Chr11:6391657

Conflicting classifications of pathogenicity

Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347287

rs_797044798

7 SubmittersRCV000192220 RCV001004576 RCV001194004 RCV001852412 RCV003488441

NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp)

SNV
Germline

Chr11:6392141

Pathogenic

Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

CA347291

rs_797044800

2 SubmittersRCV000192224 RCV001380608

NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)

SNV
Germline

Chr11:6393898

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA5852881

rs_747143343

3 SubmittersRCV001004367 RCV001384265

NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro)

SNV
Germline

Chr11:6394384

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

CA10576033

rs_875989836

2 SubmittersRCV000211547 RCV003765358

NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)

SNV
Germline

Chr11:6394015

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852895

rs_141641266

11 SubmittersRCV000224864 RCV000260007 RCV000671913 RCV001082792

NM_000543.5(SMPD1):c.8G>A (p.Arg3His)

SNV
Germline

Chr11:6390606

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852452

rs_199836262

10 SubmittersRCV000397745 RCV000674958 RCV000819250 RCV001276409 RCV003417882

NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)

SNV
Germline

Chr11:6394343

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA5852951

rs_201659696

4 SubmittersRCV000337192 RCV001085492 RCV001102621

NM_000543.5(SMPD1):c.1091+9C>T

SNV
Germline

Chr11:6392165

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
not specified
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Conflicting Classifications

CA5852754

rs_143612450

5 SubmittersRCV000294629 RCV000372496 RCV000889391 RCV001249053

NM_000543.5(SMPD1):c.319-17C>A

SNV
Germline

Chr11:6391367

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852568

rs_148370501

2 SubmittersRCV000340004 RCV002059211

NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)

SNV
Germline

Chr11:6394310

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5852945

rs_552841217

6 SubmittersRCV000261207 RCV000305957 RCV000970644 RCV001249035 RCV003401256

NM_000543.5(SMPD1):c.441G>A (p.Val147=)

SNV
Germline

Chr11:6391506

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852604

rs_148944108

7 SubmittersRCV000325277 RCV000357086 RCV000970717 RCV001081186 RCV001248936 RCV003957470

NM_000543.5(SMPD1):c.689G>A (p.Arg230His)

SNV
Germline

Chr11:6391754

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A
not specified

Criteria Provided
Conflicting Classifications

CA5852660

rs_141387770

8 SubmittersRCV000383577 RCV000671461 RCV001248983 RCV001087433 RCV002282109

NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)

SNV
Germline

Chr11:6393230

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA10605962

rs_372287825

6 SubmittersRCV000292122 RCV001004584 RCV001249051 RCV001218398

NM_000543.5(SMPD1):c.72C>A (p.Thr24=)

SNV
Germline

Chr11:6390670

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA10606056

rs_886043870

2 SubmittersRCV000353259 RCV002518034

NM_000543.5(SMPD1):c.762G>A (p.Leu254=)

SNV
Germline

Chr11:6391827

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Inborn genetic diseases
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852680

rs_143939609

5 SubmittersRCV000328518 RCV001087547 RCV001828268 RCV003298347 RCV003930179

NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)

SNV
Germline

Chr11:6394300

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852942

rs_35122256

7 SubmittersRCV000370628 RCV000399404 RCV000675398 RCV001084821 RCV001249036 RCV003930180

NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)

SNV
Germline

Chr11:6394272

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852935

rs_147258619

8 SubmittersRCV000398280 RCV000675397 RCV001084810 RCV001107856 RCV003920163

NM_000543.5(SMPD1):c.627G>A (p.Leu209=)

SNV
Germline

Chr11:6391692

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA5852651

rs_200443318

2 SubmittersRCV000383570 RCV002518135

NM_000543.5(SMPD1):c.373C>T (p.Leu125=)

SNV
Germline

Chr11:6391438

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Inborn genetic diseases
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852589

rs_370048730

5 SubmittersRCV000392507 RCV001084785 RCV001276411 RCV002348029 RCV003910046

NM_000543.5(SMPD1):c.729C>T (p.Ala243=)

SNV
Germline

Chr11:6391794

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Condition: not provided
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Inborn genetic diseases
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852672

rs_149476159

7 SubmittersRCV000267818 RCV000591908 RCV001280458 RCV001409993 RCV003338568 RCV003950025

NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)

SNV
Germline

Chr11:6391873

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852691

rs_202244080

5 SubmittersRCV000382375 RCV000735167 RCV001085518 RCV003977882

NM_000543.5(SMPD1):c.349G>A (p.Val117Met)

SNV
Germline

Chr11:6391414

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852586

rs_202206564

5 SubmittersRCV000297445 RCV000728558 RCV001085400 RCV003950024

NM_000543.5(SMPD1):c.297C>G (p.Thr99=)

SNV
Germline

Chr11:6390895

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Inborn genetic diseases
Condition: not provided
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852541

rs_146630228

7 SubmittersRCV000407377 RCV000634575 RCV001248938 RCV002436146 RCV003401298 RCV003940157

NM_000543.5(SMPD1):c.1340+12A>T

SNV
Germline

Chr11:6393705

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852860

rs_140221837

2 SubmittersRCV000400805 RCV002056215

NM_000543.5(SMPD1):c.1608G>A (p.Gln536=)

SNV
Germline

Chr11:6394319

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA10638917

rs_886048447

2 SubmittersRCV003765796 RCV000360554

NM_000543.5(SMPD1):c.66C>T (p.Asp22=)

SNV
Germline

Chr11:6390664

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA10639514

rs_886048444

2 SubmittersRCV000290689 RCV002056214

NM_000543.5(SMPD1):c.1340+8G>A

SNV
Germline

Chr11:6393701

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852857

rs_373742012

2 SubmittersRCV000335593 RCV001407437

NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)

SNV
Germline

Chr11:6390839

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA16041477

rs_868423827

3 SubmittersRCV000410072 RCV000763264

NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)

SNV
Germline

Chr11:6391622

Pathogenic

Niemann-Pick disease, type B
Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA16041479

rs_1057517195

9 SubmittersRCV000589803 RCV000723417 RCV001004575 RCV001045155 RCV001248932

NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)

SNV
Germline

Chr11:6391753

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041480

rs_989639224

7 SubmittersRCV000409293 RCV001229670 RCV001248876 RCV002223835

NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)

SNV
Germline

Chr11:6391813

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
not specified
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA5852678

rs_750779804

8 SubmittersRCV000409846 RCV000780730 RCV001248930 RCV001250174

NM_000543.5(SMPD1):c.1264-1G>T

SNV
Germline

Chr11:6393616

Likely pathogenic

Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA16041484

rs_1057516454

6 SubmittersRCV000411029 RCV001249050 RCV001379856

NM_000543.5(SMPD1):c.1341-1G>A

SNV
Germline

Chr11:6393895

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA16041486

rs_1057516854

4 SubmittersRCV000410948 RCV000733252 RCV001850949

NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)

SNV
Germline

Chr11:6394229

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA16041489

rs_943924098

4 SubmittersRCV000410839 RCV003114524 RCV003766123

NM_000543.5(SMPD1):c.1264-1G>A

SNV
Germline

Chr11:6393616

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA16605962

rs_1057516454

2 SubmittersRCV000443668 RCV003766213

NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)

SNV
Germline

Chr11:6393982

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B
SMPD1-related disorder
not specified
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852891

rs_763566905

10 SubmittersRCV000436575 RCV000984224 RCV001248879 RCV001810448 RCV003959931 RCV003114556 RCV003313954

NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)

SNV
Germline

Chr11:6392060

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type A
Condition: not provided
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852724

rs_202081954

14 SubmittersRCV000454404 RCV000672505 RCV000727004 RCV001249055 RCV001242152 RCV003152604

NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)

SNV
Germline

Chr11:6393629

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

CA379374228

rs_1554935136

5 SubmittersRCV000498689 RCV000665319 RCV001851371 RCV004555866

NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)

SNV
Germline

Chr11:6394267

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

CA379376203

rs_371837210

3 SubmittersRCV000504182 RCV002524354

NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)

SNV
Germline

Chr11:6393241

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA379372866

rs_1342372980

3 SubmittersRCV000594397 RCV003767346 RCV003992340

NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)

SNV
Germline

Chr11:6391807

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA217299538

rs_200763423

7 SubmittersRCV000591054 RCV001004578 RCV001248869 RCV001385503 RCV003338674

NM_000543.5(SMPD1):c.1341-9T>C

SNV
Germline

Chr11:6393887

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852879

rs_528939343

3 SubmittersRCV000593182 RCV001078998 RCV003952943

NM_000543.5(SMPD1):c.319-5T>C

SNV
Germline

Chr11:6391379

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA658797586

rs_958654789

3 SubmittersRCV000598474 RCV002062010 RCV003983137

NM_000543.5(SMPD1):c.1091+10G>A

SNV
Germline

Chr11:6392166

Conflicting classifications of pathogenicity

Condition: not provided
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852755

rs_148067213

3 SubmittersRCV000592728 RCV001249052 RCV001087561

NM_000543.5(SMPD1):c.657G>A (p.Thr219=)

SNV
Germline

Chr11:6391722

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5852656

rs_202032347

3 SubmittersRCV000596901 RCV001426612 RCV002368017

NM_000543.5(SMPD1):c.708G>A (p.Pro236=)

SNV
Germline

Chr11:6391773

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Inborn genetic diseases
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

CA5852667

rs_374604948

5 SubmittersRCV000596537 RCV001080258 RCV001276413 RCV002368020 RCV003962705

NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln)

SNV
Germline

Chr11:6390834

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852531

rs_201647015

2 SubmittersRCV000591040 RCV001442227

NM_000543.5(SMPD1):c.1191C>T (p.Asn397=)

SNV
Germline

Chr11:6393315

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852804

rs_766418804

2 SubmittersRCV000596928 RCV002065168

NM_000543.5(SMPD1):c.255G>A (p.Gly85=)

SNV
Germline

Chr11:6390853

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA472909580

rs_1554933929

2 SubmittersRCV000594463 RCV003767397

NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)

SNV
Germline

Chr11:6392060

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852723

rs_202081954

3 SubmittersRCV000595643 RCV002506436

NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu)

SNV
Germline

Chr11:6391616

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

CA5852623

rs_760203204

2 SubmittersRCV000596004 RCV001037515

NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)

SNV
Germline

Chr11:6391574

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

CA379369722

rs_1554934193

3 SubmittersRCV000634568 RCV001004574

NM_000543.5(SMPD1):c.318+2T>C

SNV
Germline

Chr11:6390918

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1225462507

3 SubmittersRCV000666977 RCV001378222

NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)

SNV
Germline

Chr11:6391593

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554934212

3 SubmittersRCV000667853 RCV001390953 RCV001420709

NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)

SNV
Germline

Chr11:6391745

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_764317969

5 SubmittersRCV000668447 RCV001527418 RCV001553551 RCV003767963

NM_000543.5(SMPD1):c.940G>A (p.Val314Met)

SNV
Germline

Chr11:6392005

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Condition: not provided
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_1228068212

6 SubmittersRCV000672037 RCV000727589 RCV001273164 RCV001868260 RCV004527729

NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)

SNV
Germline

Chr11:6392091

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_281860668

2 SubmittersRCV000665335 RCV003767946

NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)

SNV
Germline

Chr11:6393639

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_281860669

2 SubmittersRCV000666528 RCV002530686

NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)

SNV
Germline

Chr11:6394209

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_771336819

3 SubmittersRCV000674077 RCV001861832

NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)

SNV
Germline

Chr11:6390650

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1428487333

2 SubmittersRCV000667531 RCV002530714

NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)

SNV
Germline

Chr11:6391553

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_780134410

3 SubmittersRCV000669477 RCV001868233

NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)

SNV
Germline

Chr11:6393257

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Condition: not provided
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Conflicting Classifications

rs_559088058

8 SubmittersRCV000670710 RCV001056291 RCV001509398 RCV003226361

NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)

SNV
Germline

Chr11:6394240

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
not specified
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_200652683

9 SubmittersRCV000664533 RCV000731478 RCV001085567 RCV001271474 RCV003488785 RCV003945695

NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)

SNV
Germline

Chr11:6394441

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Condition: not provided
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Conflicting Classifications

rs_1554935669

7 SubmittersRCV000664755 RCV001527434 RCV003133487 RCV003330876

NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)

SNV
Germline

Chr11:6390912

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_751269562

5 SubmittersRCV000672040 RCV001250173

NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)

SNV
Germline

Chr11:6391598

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
not specified

Criteria Provided
Conflicting Classifications

rs_749780769

5 SubmittersRCV000667895 RCV000734780 RCV001868217 RCV002233100

NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)

SNV
Germline

Chr11:6392020

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_757934797

6 SubmittersRCV000671268 RCV001527420 RCV003767992

NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val)

SNV
Germline

Chr11:6393916

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1402734026

3 SubmittersRCV000669613 RCV002532089 RCV003223664

NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)

SNV
Germline

Chr11:6394512

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_750433951

2 SubmittersRCV000671468 RCV001215758

NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr11:6390626

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
SMPD1-related disorder
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1205990349

4 SubmittersRCV000664760 RCV003980292 RCV001386465

NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr11:6390659

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554933751

3 SubmittersRCV000670505 RCV001868244

NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)

SNV
Germline

Chr11:6390693

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554933780

3 SubmittersRCV000669272 RCV003767973

NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)

SNV
Germline

Chr11:6392023

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_779927660

4 SubmittersRCV000672229 RCV000730329 RCV001527421

NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)

SNV
Germline

Chr11:6393633

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Conflicting Classifications

rs_794727629

5 SubmittersRCV000778333 RCV000689782 RCV003230573

NM_000543.5(SMPD1):c.1197G>A (p.Thr399=)

SNV
Germline

Chr11:6393321

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_755182589

2 SubmittersRCV000727984 RCV001086882

NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)

SNV
Germline

Chr11:6391402

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Inborn genetic diseases
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_140202512

5 SubmittersRCV000727987 RCV001484671 RCV002458336 RCV003965503

NM_000543.5(SMPD1):c.39C>T (p.Pro13=)

SNV
Germline

Chr11:6390637

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_775473869

2 SubmittersRCV000728118 RCV002067082

NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)

SNV
Germline

Chr11:6390681

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Condition: not provided
Inborn genetic diseases
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_556155962

7 SubmittersRCV000728133 RCV000915596 RCV001107111 RCV001357849 RCV003165955 RCV003908018

NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=)

SNV
Germline

Chr11:6394328

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_1181161932

2 SubmittersRCV000728347 RCV002535069

NM_000543.5(SMPD1):c.338G>A (p.Arg113His)

SNV
Germline

Chr11:6391403

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_149770879

2 SubmittersRCV000728445 RCV002067087

NM_000543.5(SMPD1):c.234C>T (p.Pro78=)

SNV
Germline

Chr11:6390832

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_575601110

4 SubmittersRCV000728464 RCV001083296 RCV001825448 RCV002442552

NM_000543.5(SMPD1):c.1386G>A (p.Val462=)

SNV
Germline

Chr11:6393941

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_763521056

3 SubmittersRCV000728555 RCV002388359 RCV001868934

NM_000543.5(SMPD1):c.1620G>A (p.Arg540=)

SNV
Germline

Chr11:6394331

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_778746534

2 SubmittersRCV000729844 RCV001446366

NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)

SNV
Germline

Chr11:6390654

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Inborn genetic diseases
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_144465428

6 SubmittersRCV000730126 RCV002485872 RCV002535142 RCV003892624

NM_000543.5(SMPD1):c.75C>T (p.Ala25=)

SNV
Germline

Chr11:6390673

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_1312090680

2 SubmittersRCV000730287 RCV002067106

NM_000543.5(SMPD1):c.90C>A (p.Leu30=)

SNV
Germline

Chr11:6390688

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_748793138

3 SubmittersRCV000731404 RCV003303213 RCV002061000

NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)

SNV
Germline

Chr11:6394386

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_149939736

6 SubmittersRCV000732105 RCV001245456 RCV001766586 RCV003938115

NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)

SNV
Germline

Chr11:6394298

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_140770832

3 SubmittersRCV000733580 RCV001457913 RCV003892660

NM_000543.5(SMPD1):c.567A>G (p.Lys189=)

SNV
Germline

Chr11:6391632

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Conflicting Classifications

rs_750187574

4 SubmittersRCV000733795 RCV001086249 RCV001276412

NM_000543.5(SMPD1):c.1821T>A (p.Ala607=)

SNV
Germline

Chr11:6394532

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_1564928040

2 SubmittersRCV000733899 RCV002536506

NM_000543.5(SMPD1):c.1044C>T (p.Ala348=)

SNV
Germline

Chr11:6392109

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_555187617

3 SubmittersRCV000734042 RCV001079532 RCV002397514

NM_000543.5(SMPD1):c.102C>G (p.Gly34=)

SNV
Germline

Chr11:6390700

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_889113421

3 SubmittersRCV000734404 RCV001081574 RCV003892672

NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)

SNV
Germline

Chr11:6394403

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis
Inborn genetic diseases
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_369787650

5 SubmittersRCV000734792 RCV001087771 RCV001273167 RCV002406673 RCV003955481

NM_000543.5(SMPD1):c.558G>A (p.Pro186=)

SNV
Germline

Chr11:6391623

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1464825418

4 SubmittersRCV000735141 RCV001830646 RCV001482878 RCV003165999

NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)

SNV
Germline

Chr11:6391747

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_1564923612

3 SubmittersRCV000778332 RCV003768424

NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)

SNV
Germline

Chr11:6392038

Pathogenic/Likely pathogenic

not specified
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_761308217

2 SubmittersRCV000781870 RCV000808902

NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)

SNV
Germline

Chr11:6392119

Pathogenic/Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A
Condition: not provided
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_201550531

5 SubmittersRCV000805997 RCV001004583 RCV001784429 RCV001269099

NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)

SNV
Germline

Chr11:6394013

Pathogenic/Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_281860665

4 SubmittersRCV000819539 RCV001255598 RCV003473504

NM_000543.5(SMPD1):c.1547A>G (p.His516Arg)

SNV
Germline

Chr11:6394258

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Condition: not provided
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_754979734

3 SubmittersRCV000821709 RCV002464328 RCV003396448

NM_000543.5(SMPD1):c.229G>A (p.Val77Met)

SNV
Germline

Chr11:6390827

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_560531338

2 SubmittersRCV000967384 RCV002445115

NM_000543.5(SMPD1):c.909A>G (p.Ala303=)

SNV
Germline

Chr11:6391974

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_201134693

4 SubmittersRCV000884869 RCV001104454 RCV003955885

NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)

SNV
Germline

Chr11:6391912

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_752148586

3 SubmittersRCV001004580 RCV001251129 RCV001366811

NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter)

SNV
Germline

Chr11:6392090

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

rs_1470998208

2 SubmittersRCV001004582 RCV001862735

NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)

SNV
Germline

Chr11:6393376

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

rs_755160837

7 SubmittersRCV001004585 RCV001213865 RCV003447572

NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg)

SNV
Germline

Chr11:6393650

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

rs_779528546

2 SubmittersRCV001004366 RCV002549241

NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)

SNV
Germline

Chr11:6391763

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_1847925080

2 SubmittersRCV001040553

NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter)

SNV
Germline

Chr11:6393246

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_1848015403

1 SubmittersRCV001063146

NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter)

SNV
Germline

Chr11:6393664

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1848043657

1 SubmittersRCV001039240

NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)

SNV
Germline

Chr11:6393949

Pathogenic/Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1319643225

3 SubmittersRCV001071343 RCV001527428

NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)

SNV
Germline

Chr11:6392123

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_772473982

5 SubmittersRCV001107211 RCV002067790 RCV001577517 RCV003160636

NM_000543.5(SMPD1):c.1335A>G (p.Val445=)

SNV
Germline

Chr11:6393688

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

rs_769400504

3 SubmittersRCV001107212 RCV001424018 RCV003898100

NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)

SNV
Germline

Chr11:6394515

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Conflicting Classifications

rs_763099671

3 SubmittersRCV001104540 RCV001281431

NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)

SNV
Germline

Chr11:6393268

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Niemann-Pick disease, type A
not specified
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_281860666

3 SubmittersRCV001241647 RCV003117860 RCV003462815

NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)

SNV
Germline

Chr11:6391567

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1847910654

4 SubmittersRCV001262263 RCV001383208 RCV003387986

NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro)

SNV
Germline

Chr11:6390888

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1847878243

1 SubmittersRCV001281395

NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg)

SNV
Germline

Chr11:6391529

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1369175943

1 SubmittersRCV001281396

NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn)

SNV
Germline

Chr11:6391685

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1847921260

1 SubmittersRCV001281399

NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter)

SNV
Germline

Chr11:6391697

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1847921909

1 SubmittersRCV001281401

NM_000543.5(SMPD1):c.634G>C (p.Asp212His)

SNV
Germline

Chr11:6391699

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_772889728

1 SubmittersRCV001281402

NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)

SNV
Germline

Chr11:6391732

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1847923379

2 SubmittersRCV001281403

NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg)

SNV
Germline

Chr11:6391819

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1847929817

1 SubmittersRCV001281404

NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro)

SNV
Germline

Chr11:6391862

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1847932355

1 SubmittersRCV001281405

NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys)

SNV
Germline

Chr11:6391892

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1847934777

1 SubmittersRCV001281406

NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg)

SNV
Germline

Chr11:6391946

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1847939431

1 SubmittersRCV001281407

NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro)

SNV
Germline

Chr11:6391958

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1847940504

1 SubmittersRCV001281408

NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser)

SNV
Germline

Chr11:6392020

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_757934797

1 SubmittersRCV001281409

NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr)

SNV
Germline

Chr11:6392066

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_759950370

1 SubmittersRCV001281411

NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly)

SNV
Germline

Chr11:6392155

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1242180535

1 SubmittersRCV001281413

NM_000543.5(SMPD1):c.1091+1G>A

SNV
Germline

Chr11:6392157

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

rs_1847955457

2 SubmittersRCV001281414

NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His)

SNV
Germline

Chr11:6393229

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1848014133

1 SubmittersRCV001281416

NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)

SNV
Germline

Chr11:6393326

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

rs_1206562843

2 SubmittersRCV001281417

NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp)

SNV
Germline

Chr11:6393357

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_34555120

1 SubmittersRCV001281418

NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp)

SNV
Germline

Chr11:6393916

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1402734026

1 SubmittersRCV001281420

NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr)

SNV
Germline

Chr11:6393930

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1848060631

1 SubmittersRCV001281421

NM_000543.5(SMPD1):c.1376A>G (p.His459Arg)

SNV
Germline

Chr11:6393931

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1848060729

1 SubmittersRCV001281422

NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)

SNV
Germline

Chr11:6393961

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
not specified

Criteria Provided
Conflicting Classifications

rs_267607074

3 SubmittersRCV001281423 RCV003235538

NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly)

SNV
Germline

Chr11:6393981

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_182812968

1 SubmittersRCV001281424

NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His)

SNV
Germline

Chr11:6394200

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1848079553

1 SubmittersRCV001281425

NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr)

SNV
Germline

Chr11:6394237

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
not specified

Criteria Provided
Conflicting Classifications

rs_764772735

2 SubmittersRCV001281426 RCV004526103

NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile)

SNV
Germline

Chr11:6394264

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_752679988

1 SubmittersRCV001281427

NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter)

SNV
Germline

Chr11:6394317

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1848088118

1 SubmittersRCV001281428

NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg)

SNV
Germline

Chr11:6394497

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1848099174

1 SubmittersRCV001281430

NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe)

SNV
Germline

Chr11:6391975

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_2134012389

1 SubmittersRCV001378395

NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)

SNV
Germline

Chr11:6391904

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1847935299

3 SubmittersRCV001390955 RCV001831407

NM_000543.5(SMPD1):c.1264-5A>G

SNV
Germline

Chr11:6393612

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_538875655

2 SubmittersRCV001506942 RCV002564185

NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys)

SNV
Germline

Chr11:6391534

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_2134009384

1 SubmittersRCV001527414

NM_000543.5(SMPD1):c.605G>A (p.Arg202His)

SNV
Germline

Chr11:6391670

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757850587

4 SubmittersRCV001527415 RCV002469402 RCV002568141 RCV004039188

NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser)

SNV
Germline

Chr11:6391733

Pathogenic

Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_2134010914

1 SubmittersRCV001527417

NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp)

SNV
Germline

Chr11:6391790

Likely pathogenic

Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1057435197

1 SubmittersRCV001527419

NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)

SNV
Germline

Chr11:6392153

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134013368

2 SubmittersRCV001527422 RCV002568858

NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)

SNV
Germline

Chr11:6393272

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_776442314

4 SubmittersRCV001527424 RCV001873722 RCV003323898

NM_000543.5(SMPD1):c.1167T>G (p.Arg389=)

SNV
Germline

Chr11:6393291

Likely pathogenic

Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1162794351

1 SubmittersRCV001527426

NM_000543.5(SMPD1):c.1171A>C (p.Asn391His)

SNV
Germline

Chr11:6393295

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134017443

2 SubmittersRCV001527425 RCV001655799

NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys)

SNV
Germline

Chr11:6393693

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134019797

2 SubmittersRCV001527427 RCV003463044

NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter)

SNV
Germline

Chr11:6394229

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_943924098

1 SubmittersRCV001527431

NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val)

SNV
Germline

Chr11:6394494

Likely pathogenic

Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134024349

2 SubmittersRCV001527435 RCV004526854

NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)

SNV
Germline

Chr11:6390750

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Condition: not provided
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Conflicting Classifications

rs_748589919

4 SubmittersRCV001579138 RCV001579137 RCV003136114 RCV003235590

NM_000543.5(SMPD1):c.1264-2A>G

SNV
Germline

Chr11:6393615

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_774309925

2 SubmittersRCV001868869 RCV003464142

NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro)

SNV
Germline

Chr11:6394204

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_120074117

1 SubmittersRCV002013686

NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter)

SNV
Germline

Chr11:6392097

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_2134013121

1 SubmittersRCV001870930

NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu)

SNV
Germline

Chr11:6393950

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
not specified

Criteria Provided
Conflicting Classifications

rs_1848061944

2 SubmittersRCV001984353 RCV003402025

NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln)

SNV
Germline

Chr11:6391807

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_200763423

1 SubmittersRCV002037625

NM_000543.5(SMPD1):c.611T>A (p.Leu204His)

SNV
Germline

Chr11:6391676

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_2134010621

1 SubmittersRCV002009894

NM_000543.5(SMPD1):c.1279C>A (p.His427Asn)

SNV
Germline

Chr11:6393632

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_760930408

1 SubmittersRCV001964045

NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu)

SNV
Germline

Chr11:6393948

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_1258231226

1 SubmittersRCV002029834

NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr11:6393918

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_2134021058

1 SubmittersRCV001950889

NM_000543.5(SMPD1):c.319-1G>A

SNV
Germline

Chr11:6391383

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1352986086

2 SubmittersRCV002044012 RCV004571422

NM_000543.5(SMPD1):c.961C>T (p.His321Tyr)

SNV
Germline

Chr11:6392026

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_2134012749

1 SubmittersRCV001975994

NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val)

SNV
Germline

Chr11:6392141

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_797044800

1 SubmittersRCV002017483

NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser)

SNV
Germline

Chr11:6393641

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_140688153

1 SubmittersRCV002017523

NM_000543.5(SMPD1):c.1340+2T>G

SNV
Germline

Chr11:6393695

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_1301641750

1 SubmittersRCV002017538

NM_000543.5(SMPD1):c.910C>G (p.Leu304Val)

SNV
Germline

Chr11:6391975

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_2134012389

1 SubmittersRCV002001334

NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu)

SNV
Germline

Chr11:6391905

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_2134011919

1 SubmittersRCV002004047

NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter)

SNV
Germline

Chr11:6393340

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_2134017711

1 SubmittersRCV001908118

NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys)

SNV
Germline

Chr11:6393256

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_369088417

1 SubmittersRCV002050526

NM_000543.5(SMPD1):c.1263+1G>A

SNV
Germline

Chr11:6393388

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134018090

2 SubmittersRCV002005714 RCV003475269

NM_000543.5(SMPD1):c.491G>T (p.Gly164Val)

SNV
Germline

Chr11:6391556

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_1047531932

1 SubmittersRCV002016966

NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)

SNV
Germline

Chr11:6391807

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_200763423

2 SubmittersRCV001933891 RCV004571634

NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala)

SNV
Germline

Chr11:6391796

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_2134011288

1 SubmittersRCV002049634

NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn)

SNV
Germline

Chr11:6394012

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

rs_2134021618

1 SubmittersRCV002022940

NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln)

SNV
Germline

Chr11:6393985

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

rs_753508874

1 SubmittersRCV001980495

NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)

SNV
Germline

Chr11:6390765

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134006149

2 SubmittersRCV001863466 RCV003464168

NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)

SNV
Germline

Chr11:6393377

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767722360

3 SubmittersRCV002108100 RCV002222756 RCV003138079

NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)

SNV
Germline

Chr11:6391696

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003062323 RCV003138464

NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)

SNV
Germline

Chr11:6393265

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003062328

NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)

SNV
Germline

Chr11:6393621

Pathogenic/Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003037365 RCV003331417

NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)

SNV
Germline

Chr11:6393684

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003037366

NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)

SNV
Germline

Chr11:6394006

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003062330

NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)

SNV
Germline

Chr11:6393256

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003065047 RCV003324069

NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)

SNV
Germline

Chr11:6392006

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003088035

NM_000543.5(SMPD1):c.995C>A (p.Pro332His)

SNV
Germline

Chr11:6392060

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Niemann-Pick disease, type A
SMPD1-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003090728 RCV003404064

NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)

SNV
Germline

Chr11:6391541

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003080268

NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)

SNV
Germline

Chr11:6391753

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003073358

NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)

SNV
Germline

Chr11:6394257

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV002599678

NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)

SNV
Germline

Chr11:6393278

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV002602064

NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)

SNV
Germline

Chr11:6392059

Conflicting classifications of pathogenicity

Niemann-Pick disease, type B
Niemann-Pick disease, type A
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002720488 RCV003331386

NM_000543.5(SMPD1):c.1340+2T>C

SNV
Germline

Chr11:6393695

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002796345 RCV003465835

NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)

SNV
Germline

Chr11:6392038

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV002857215

NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)

SNV
Germline

Chr11:6394258

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV002910238

NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)

SNV
Germline

Chr11:6394539

Conflicting classifications of pathogenicity

Niemann-Pick disease, type A
Niemann-Pick disease, type B
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002971836 RCV003138419

NM_000543.5(SMPD1):c.319-2A>G

SNV
Germline

Chr11:6391382

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A
Niemann-Pick disease, type A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002975493 RCV003465876

NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)

SNV
Germline

Chr11:6394268

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV002991766

NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)

SNV
Germline

Chr11:6393268

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003022199

NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)

SNV
Germline

Chr11:6393632

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003061886

NM_000543.5(SMPD1):c.1486+5G>C

SNV
Germline

Chr11:6394046

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003138543 RCV003778789

NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)

SNV
Germline

Chr11:6394219

Likely pathogenic

Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003317026

NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)

SNV
Germline

Chr11:6393292

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003785563

NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)

SNV
Germline

Chr11:6394540

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003785695

NM_000543.5(SMPD1):c.1792C>T (p.Gln598Ter)

SNV
Germline

Chr11:6394503

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003797944

NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)

SNV
Germline

Chr11:6391675

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003795932

NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)

SNV
Germline

Chr11:6393913

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003781118

NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)

SNV
Germline

Chr11:6391796

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003785126

NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)

SNV
Germline

Chr11:6392059

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003798316

NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)

SNV
Germline

Chr11:6391814

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003794642

NM_000543.5(SMPD1):c.1179G>A (p.Trp393Ter)

SNV
Germline

Chr11:6393303

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003808105

NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)

SNV
Germline

Chr11:6393642

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003804332

NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)

SNV
Germline

Chr11:6393641

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003799285

NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)

SNV
Germline

Chr11:6393345

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003800560

NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)

SNV
Germline

Chr11:6394447

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003809328

NM_000543.5(SMPD1):c.1486+1G>T

SNV
Germline

Chr11:6394042

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003801610

NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)

SNV
Germline

Chr11:6394203

Likely pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003815544

NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)

SNV
Germline

Chr11:6391895

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003813260

NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)

SNV
Germline

Chr11:6393669

Pathogenic

Niemann-Pick disease, type B
Niemann-Pick disease, type A

Criteria Provided
Single Submitter

1 SubmittersRCV003807596

NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)

SNV
Germline

Chr11:6391984

Pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003812948

NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)

SNV
Germline

Chr11:6391698

Likely pathogenic

Niemann-Pick disease, type A
Niemann-Pick disease, type B

Criteria Provided
Single Submitter

1 SubmittersRCV003812952