Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro)	SNV Germline	Chr18:23539823	Pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA252496	rs_28940897	1 SubmittersRCV000003091
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	SNV Germline	Chr18:23536811	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C Sphingomyelin/cholesterol lipidosis	Criteria Provided Conflicting Classifications	CA242024	rs_28942104	10 SubmittersRCV000003092 RCV000176149 RCV000781670 RCV005627332
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)	SNV Germline	Chr18:23535479	Pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252497	rs_28942105	6 SubmittersRCV000003093 RCV003114174 RCV003480016
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	SNV Germline	Chr18:23538609	Conflicting classifications of pathogenicity	Niemann-Pick disease, type D Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Conflicting Classifications	CA115895	rs_80358254	14 SubmittersRCV000003094 RCV000020230 RCV000723413 RCV004799729
NM_000271.5(NPC1):c.2665G>A (p.Val889Met)	SNV Germline	Chr18:23539941	Pathogenic	Niemann-Pick disease, type C1, adult form	No Assertion Criteria Provided	CA115896	rs_120074130	1 SubmittersRCV000003096
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys)	SNV Germline	Chr18:23535683	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1, juvenile form Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA115897	rs_28942106	3 SubmittersRCV000003098 RCV001056811
NM_000271.5(NPC1):c.3639G>C (p.Leu1213Phe)	SNV Germline	Chr18:23533470	Likely pathogenic	Niemann-Pick disease, type C1, juvenile form Niemann-Pick disease, type C	Criteria Provided Single Submitter	CA115898	rs_120074131	2 SubmittersRCV000003099 RCV006456596
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	SNV Germline	Chr18:23538564	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C 6 conditions NPC1-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA340032	rs_80358257	27 SubmittersRCV000003100 RCV000254671 RCV000321958 RCV000415371 RCV003952339 RCV002512691
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	SNV Germline	Chr18:23536736	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C Inborn genetic diseases Sphingomyelin/cholesterol lipidosis NPC1-related disorder Lysosomal storage disease	Criteria Provided Multiple Submitters No Conflicts	CA340033	rs_80358259	27 SubmittersRCV000003101 RCV000254672 RCV000587869 RCV000624446 RCV003335012 RCV003964790 RCV006252549
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)	SNV Germline	Chr18:23539393	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA252498	rs_120074132	4 SubmittersRCV000003102
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	SNV Germline	Chr18:23538609	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA340034	rs_80358254	13 SubmittersRCV000003103 RCV000489250 RCV000590044
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)	SNV Germline	Chr18:23556436	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA252499	rs_120074134	5 SubmittersRCV000003104 RCV003125828 RCV004585982
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	SNV Germline	Chr18:23539418	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided NPC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281534	rs_120074135	11 SubmittersRCV000003105 RCV000212760 RCV004748493
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)	SNV Germline	Chr18:23536814	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220563	rs_28942107	6 SubmittersRCV000003106 RCV000790787
NM_000271.5(NPC1):c.3591+1G>A	SNV Germline	Chr18:23534445	Pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA252500	rs_786200877	5 SubmittersRCV000003107 RCV001193398
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)	SNV Germline	Chr18:23561461	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA340035	rs_80358252	9 SubmittersRCV000003108 RCV000730873 RCV000623140
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	SNV Germline	Chr18:23538651	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA252501	rs_28942108	9 SubmittersRCV000003110 RCV000413627 RCV004017222
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)	SNV Germline	Chr18:23568949	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA252503	rs_120074136	3 SubmittersRCV000003112 RCV002509143
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	SNV Germline	Chr14:74484420	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C2 Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA254414	rs_104894458	6 SubmittersRCV000009007 RCV001528117 RCV005406732
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)	SNV Germline	Chr18:23541355	Pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C NPC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341662	rs_80358253	5 SubmittersRCV000020226 RCV004700260 RCV004748530
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)	SNV Germline	Chr18:23538609	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341663	rs_80358254	6 SubmittersRCV000020229 RCV000413372
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)	SNV Germline	Chr18:23536758	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA341664	rs_80358258	4 SubmittersRCV000020231 RCV004783727 RCV004586017
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	SNV Germline	Chr18:23560403	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified Condition: not provided Nasopharyngeal carcinoma	Criteria Provided Conflicting Classifications	CA145972	rs_80358251	15 SubmittersRCV000020234 RCV000078486 RCV000675580 RCV003638614
NM_000271.5(NPC1):c.1947+8G>C	SNV Germline	Chr18:23544952	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA220559	rs_66620415	5 SubmittersRCV000078471 RCV000528609
NM_000271.5(NPC1):c.2862G>A (p.Ser954=)	SNV Germline	Chr18:23539404	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220561	rs_373517774	4 SubmittersRCV000078476 RCV001335213 RCV004639137
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)	SNV Germline	Chr18:23536720	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type C1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220564	rs_145145840	11 SubmittersRCV000251909 RCV000610648 RCV000723515 RCV002321571
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)	SNV Germline	Chr18:23535615	Conflicting classifications of pathogenicity	not specified Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA145962	rs_151125564	10 SubmittersRCV000078480 RCV000675557 RCV001082185 RCV002321572
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)	SNV Germline	Chr18:23535603	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type C1 Condition: not provided NPC1-related disorder	Criteria Provided Conflicting Classifications	CA145964	rs_34226296	12 SubmittersRCV000078481 RCV000674624 RCV000767035 RCV003935016
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)	SNV Germline	Chr18:23560447	Conflicting classifications of pathogenicity	Condition: not provided not specified Niemann-Pick disease, type C1 Inborn genetic diseases NPC1-related disorder	Criteria Provided Conflicting Classifications	CA220566	rs_55680026	13 SubmittersRCV000078485 RCV000254118 RCV000509165 RCV002514379 RCV003891533
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 Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA221151	rs_398123478	14 SubmittersRCV000179326 RCV000700954 RCV000984309 RCV000984308 RCV001248882 RCV002251966 RCV005644517
NM_000271.5(NPC1):c.1502A>T (p.Asp501Val)	SNV Germline	Chr18:23554809	Pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA269817	rs_483352885	1 SubmittersRCV000119326
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)	SNV Germline	Chr18:23554758	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA269819	rs_483352886	10 SubmittersRCV000119327 RCV000725736 RCV001804847
NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly)	SNV Germline	Chr18:23545075	Pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA269821	rs_483352887	1 SubmittersRCV000119329
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr)	SNV Germline	Chr18:23544420	Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Single Submitter	CA269823	rs_483352888	2 SubmittersRCV000119330 RCV004689613
NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter)	SNV Germline	Chr18:23544346	Pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA269825	rs_483352889	1 SubmittersRCV000119331
NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr)	SNV Germline	Chr18:23543523	Pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA269827	rs_483352890	1 SubmittersRCV000119332
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)	SNV Germline	Chr18:23541313	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA269831	rs_483352891	4 SubmittersRCV000119335 RCV003230407
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)	SNV Germline	Chr18:23535681	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA297015	rs_374526072	3 SubmittersRCV000671618
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	SNV Germline	Chr18:23539405	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C NPC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA297014	rs_543206298	14 SubmittersRCV000158972 RCV000254670 RCV001193400 RCV003407592
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)	SNV Germline	Chr18:23539829	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA297012	rs_730880963	3 SubmittersRCV001251128 RCV002223799
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)	SNV Germline	Chr18:23544970	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA297003	rs_112387560	6 SubmittersRCV000729578 RCV001416117 RCV003407591 RCV004586579 RCV005372252
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	SNV Germline	Chr18:23551653	Pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA297011	rs_369368181	6 SubmittersRCV000158970 RCV000610038 RCV005638451
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)	SNV Germline	Chr18:23561444	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 not specified NPC1-related disorder	Criteria Provided Conflicting Classifications	CA297001	rs_111256741	7 SubmittersRCV000329957 RCV000765409 RCV002281970 RCV003937472
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)	SNV Germline	Chr18:23533495	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C Abnormality of metabolism/homeostasis	Criteria Provided Multiple Submitters No Conflicts	CA273905	rs_758902805	8 SubmittersRCV000169061 RCV000255516 RCV001804899 RCV001814078
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)	SNV Germline	Chr18:23534480	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA274457	rs_200444084	8 SubmittersRCV000169602 RCV000479463 RCV001193399
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	SNV Germline	Chr18:23536743	Pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA273933	rs_786204455	5 SubmittersRCV000169092 RCV001201288
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)	SNV Germline	Chr18:23539373	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274181	rs_786204586	3 SubmittersRCV000169331 RCV001092827
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)	SNV Germline	Chr18:23539447	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA273881	rs_143124972	7 SubmittersRCV000169010 RCV000728524 RCV000781669
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)	SNV Germline	Chr18:23539465	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274396	rs_786204714	4 SubmittersRCV000169530 RCV005425783
NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter)	SNV Unknown	Chr18:23539842	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA274292	rs_786204641	1 SubmittersRCV000169423
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	SNV Germline	Chr18:23539845	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C NPC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274036	rs_786204512	7 SubmittersRCV000169199 RCV001567278 RCV002271441 RCV003398865
NM_000271.5(NPC1):c.1947+2T>G	SNV Unknown	Chr18:23544958	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA274468	rs_764472245	3 SubmittersRCV000169611
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)	SNV Germline	Chr18:23556358	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA273968	rs_139751448	8 SubmittersRCV000169124 RCV000255152 RCV000588149
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	SNV Germline	Chr18:23539985	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Condition: not provided Inborn genetic diseases NPC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA275049	rs_372030650	16 SubmittersRCV000175270 RCV000606384 RCV000724467 RCV002516669 RCV003937576
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)	SNV Germline	Chr18:23534544	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Conflicting Classifications	CA242284	rs_748862167	5 SubmittersRCV000176359 RCV000704311 RCV004586596
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)	SNV Germline	Chr18:23534509	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242285	rs_150602021	5 SubmittersRCV000176360 RCV001078845 RCV003895190 RCV004639162
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)	SNV Germline	Chr18:23556427	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Single Submitter	CA275420	rs_794727897	2 SubmittersRCV000180120 RCV000724228
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)	SNV Germline	Chr18:23534476	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type C1 Condition: not provided Inborn genetic diseases NPC1-related disorder	Criteria Provided Conflicting Classifications	CA206003	rs_55724504	12 SubmittersRCV000192877 RCV000532367 RCV000675555 RCV002453707 RCV003891763
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)	SNV Germline	Chr18:23543487	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA353802	rs_777286835	5 SubmittersRCV000666499
NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala)	SNV Germline	Chr18:23536791	Pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA10581224	rs_876661319	1 SubmittersRCV000223886
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)	SNV Germline	Chr18:23539384	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8912938	rs_34084984	7 SubmittersRCV000239155 RCV000671674 RCV006439867
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)	SNV Germline	Chr18:23536701	Conflicting classifications of pathogenicity	not specified Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912839	rs_141440861	11 SubmittersRCV000243260 RCV000697615 RCV001081451 RCV003891841
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)	SNV Germline	Chr18:23556481	Conflicting classifications of pathogenicity	not specified Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913537	rs_774588125	3 SubmittersRCV000253256 RCV001764229 RCV002518572
NM_000271.5(NPC1):c.66A>G (p.Ser22=)	SNV Germline	Chr18:23573566	Conflicting classifications of pathogenicity	not specified Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8913830	rs_144415945	11 SubmittersRCV000245310 RCV000675584 RCV001081906 RCV002365258
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)	SNV Germline	Chr18:23545088	Pathogenic	Condition: not provided Niemann-Pick disease, type C Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10588676	rs_377130051	6 SubmittersRCV000255864 RCV000589541 RCV001273179 RCV001265830
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)	SNV Germline	Chr18:23539878	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1 See cases	Criteria Provided Multiple Submitters No Conflicts	CA8912990	rs_768999208	5 SubmittersRCV000258915 RCV000674176 RCV002252074
NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr)	SNV Germline	Chr18:23554764	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA10602695	rs_751951695	3 SubmittersRCV000258907 RCV003500525 RCV005431582
NM_000271.5(NPC1):c.3246-2A>G	SNV Germline	Chr18:23535702	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10575444	rs_886042268	6 SubmittersRCV000295010 RCV000413103
NM_000271.5(NPC1):c.1947+5G>C	SNV Germline	Chr18:23544955	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1 Niemann-Pick disease, type C NPC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8913337	rs_770321568	6 SubmittersRCV000357223 RCV000670237 RCV002222467 RCV003391029
NM_000271.5(NPC1):c.3717C>T (p.His1239=)	SNV Germline	Chr18:23533392	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912680	rs_34624018	9 SubmittersRCV000305924 RCV000544982 RCV002347990 RCV003920049
NM_000271.5(NPC1):c.2712G>T (p.Gly904=)	SNV Germline	Chr18:23539894	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8912993	rs_560122245	2 SubmittersRCV000346840 RCV003605619
NM_000271.5(NPC1):c.57+7G>A	SNV Germline	Chr18:23586280	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA10604836	rs_886042901	3 SubmittersRCV000354889 RCV001463718 RCV003967737
NM_000271.5(NPC1):c.834G>A (p.Ala278=)	SNV Germline	Chr18:23560278	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913630	rs_146105340	2 SubmittersRCV000279170 RCV002059200
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)	SNV Germline	Chr18:23534481	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA8912734	rs_145297180	6 SubmittersRCV000278598 RCV001859651 RCV002519245 RCV003226275
NM_000271.5(NPC1):c.2257G>A (p.Val753Met)	SNV Germline	Chr18:23541422	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913159	rs_146874573	6 SubmittersRCV000329383 RCV000765406 RCV004748695
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)	SNV Germline	Chr18:23539394	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C1, juvenile form Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8912940	rs_759826138	5 SubmittersRCV000279978 RCV000726075 RCV001267680 RCV001731564
NM_000271.5(NPC1):c.2246-5G>A	SNV Germline	Chr18:23541438	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913165	rs_77289650	2 SubmittersRCV000278933 RCV001080019
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)	SNV Germline	Chr18:23556558	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 not specified NPC1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8913554	rs_147795644	11 SubmittersRCV000375872 RCV001081725 RCV001699423 RCV003949911 RCV004021243
NM_000271.5(NPC1):c.372A>T (p.Thr124=)	SNV Germline	Chr18:23568914	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913752	rs_748125983	2 SubmittersRCV000308667 RCV001496367
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)	SNV Germline	Chr18:23536689	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10606393	rs_750095738	5 SubmittersRCV000286951 RCV000726304
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)	SNV Germline	Chr18:23554769	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913451	rs_371076898	3 SubmittersRCV000362128 RCV001089180 RCV003957509
NM_000271.5(NPC1):c.2677C>T (p.Leu893=)	SNV Germline	Chr18:23539929	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA10606616	rs_756756960	2 SubmittersRCV000364955 RCV002059276
NM_000271.5(NPC1):c.1224C>T (p.Leu408=)	SNV Germline	Chr18:23556345	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913514	rs_759901793	2 SubmittersRCV000276050 RCV002059277
NM_000271.5(NPC1):c.631+7A>G	SNV Germline	Chr18:23561353	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA10606922	rs_886044570	3 SubmittersRCV000316567 RCV001462724
NM_006432.5(NPC2):c.363+7G>A	SNV Germline	Chr14:74484408	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Niemann-Pick disease, type C2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7268143	rs_200463204	8 SubmittersRCV000375313 RCV000611646 RCV000593664 RCV001579721
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)	SNV Germline	Chr18:23541410	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8913156	rs_777156729	4 SubmittersRCV000548777 RCV000594494
NM_000271.5(NPC1):c.1947+12G>T	SNV Germline	Chr18:23544948	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA10641148	rs_886053666	3 SubmittersRCV000388731 RCV003897743
NM_006432.5(NPC2):c.*295C>G	SNV Germline	Chr14:74479979	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10646030	rs_113587712	2 SubmittersRCV000323864 RCV003401321
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	SNV Germline	Chr18:23538572	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided NPC1-related disorder Niemann-Pick disease, type C	Criteria Provided Conflicting Classifications	CA8912897	rs_150334966	14 SubmittersRCV000675137 RCV000414264 RCV003922387 RCV005418080
NM_000271.5(NPC1):c.2820G>A (p.Ser940=)	SNV Germline	Chr18:23539446	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8912947	rs_754664476	4 SubmittersRCV000280883 RCV000591238 RCV006263870
NM_000271.5(NPC1):c.2304C>T (p.Val768=)	SNV Germline	Chr18:23541375	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8913148	rs_183935795	3 SubmittersRCV000358907 RCV000598057
NM_000271.5(NPC1):c.1947+13G>T	SNV Germline	Chr18:23544947	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 NPC1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8913306	rs_568769965	4 SubmittersRCV000274362 RCV004748733 RCV004584669
NM_000271.5(NPC1):c.699G>A (p.Glu233=)	SNV Germline	Chr18:23560413	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913662	rs_769468514	2 SubmittersRCV000354822
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)	SNV Germline	Chr18:23572128	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913786	rs_373274825	5 SubmittersRCV000732048 RCV000811491
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)	SNV Germline	Chr18:23538571	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Malignant tumor of esophagus Papillary renal cell carcinoma type 1 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA8912896	rs_182413311	5 SubmittersRCV000729382 RCV001087791 RCV005894739 RCV005894738 RCV005894737
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)	SNV Germline	Chr18:23539831	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8912982	rs_147419225	4 SubmittersRCV000936210 RCV003409516
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)	SNV Germline	Chr18:23541081	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified Condition: not provided NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913084	rs_373435883	8 SubmittersRCV000346696 RCV000595804 RCV003480602 RCV003912362
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)	SNV Germline	Chr18:23535625	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912799	rs_376210355	3 SubmittersRCV000935932 RCV003897742
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)	SNV Germline	Chr18:23535634	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8912801	rs_746476066	3 SubmittersRCV000668379
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)	SNV Germline	Chr18:23538610	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8912902	rs_201118975	6 SubmittersRCV000316113 RCV001535043 RCV002436178
NM_000271.5(NPC1):c.2832C>T (p.Asp944=)	SNV Germline	Chr18:23539434	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8912945	rs_780019300	2 SubmittersRCV000373056
NM_000271.5(NPC1):c.2373+14A>G	SNV Germline	Chr18:23541292	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913133	rs_771523995	2 SubmittersRCV000405595
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)	SNV Germline	Chr18:23534471	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8912726	rs_369098773	4 SubmittersRCV000412462 RCV004525924
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)	SNV Germline	Chr18:23536862	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA8912862	rs_781261962	4 SubmittersRCV000412438
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)	SNV Germline	Chr18:23541108	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041913	rs_550562774	9 SubmittersRCV000410702 RCV000733999
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)	SNV Germline	Chr18:23544484	Pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C NPC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8913242	rs_376213990	6 SubmittersRCV000411001 RCV002469141 RCV003409564
NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)	SNV Germline	Chr18:23554972	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA16041916	rs_1057517077	2 SubmittersRCV000411431
NM_000271.5(NPC1):c.1327-1G>C	SNV Unknown	Chr18:23554985	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA16041917	rs_1057516813	1 SubmittersRCV000409528
NM_000271.5(NPC1):c.956-1G>A	SNV Germline	Chr18:23556614	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA16041919	rs_756853895	2 SubmittersRCV000410576
NM_000271.5(NPC1):c.500C>G (p.Ser167Ter)	SNV Unknown	Chr18:23561491	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA16041922	rs_752409181	1 SubmittersRCV000410413
NM_000271.5(NPC1):c.433C>T (p.Gln145Ter)	SNV Germline	Chr18:23568853	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA16041923	rs_1057516749	3 SubmittersRCV000411904
NM_000271.5(NPC1):c.1A>G (p.Met1Val)	SNV Unknown	Chr18:23586343	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA16041926	rs_1057517005	1 SubmittersRCV000412029
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)	SNV Germline	Chr18:23535521	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA8912782	rs_778878523	6 SubmittersRCV000414430 RCV000665209
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)	SNV Germline	Chr18:23543499	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8913187	rs_757475924	6 SubmittersRCV000414597 RCV000667438 RCV003486823
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)	SNV Germline	Chr18:23539417	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA16043142	rs_1057517978	6 SubmittersRCV000414206 RCV000779241 RCV005238965
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)	SNV Germline	Chr18:23534477	Conflicting classifications of pathogenicity	Dystonic disorder Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA16043538	rs_113371321	3 SubmittersRCV000414757 RCV001861450 RCV005418103
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)	SNV Germline	Chr18:23554890	Pathogenic	6 conditions Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8913468	rs_372445155	4 SubmittersRCV000415065 RCV000823177 RCV004591143
NM_000271.5(NPC1):c.57+4A>G	SNV Germline	Chr18:23586283	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA16043878	rs_1057519229	3 SubmittersRCV000416076 RCV000671661
NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)	SNV Germline	Chr18:23539893	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA16616710	rs_917070773	2 SubmittersRCV000474466
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)	SNV Germline	Chr18:23556271	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA16620669	rs_1064793791	2 SubmittersRCV000479598 RCV002470869
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)	SNV Germline	Chr18:23560391	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA16620670	rs_1064795718	3 SubmittersRCV000478255 RCV000694249
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu)	SNV Germline	Chr18:23556268	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA297069387	rs_774333145	6 SubmittersRCV000494559 RCV000670030
NM_000271.5(NPC1):c.881+1G>T	SNV Germline	Chr18:23560230	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401780708	rs_1555638409	1 SubmittersRCV000502716
NM_000271.5(NPC1):c.181-4A>C	SNV Germline	Chr18:23572184	Conflicting classifications of pathogenicity	not specified Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8913796	rs_374571310	3 SubmittersRCV000507299 RCV001414549 RCV002524923
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)	SNV Germline	Chr18:23568876	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Conflicting Classifications	CA8913749	rs_372947142	6 SubmittersRCV000522597 RCV000674009 RCV003226316
NM_000271.5(NPC1):c.2912-2A>C	SNV Germline	Chr18:23538673	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792353	rs_1555632994	1 SubmittersRCV000525694
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)	SNV Germline	Chr18:23539936	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA8913003	rs_780592540	3 SubmittersRCV000588008 RCV000665306
NM_000271.5(NPC1):c.1947+10G>T	SNV Germline	Chr18:23544950	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 not specified Uterine corpus endometrial carcinoma	Criteria Provided Conflicting Classifications	CA8913322	rs_71534236	5 SubmittersRCV000585968 RCV000765407 RCV005240254 RCV005898603
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter)	SNV Germline	Chr18:23556350	Pathogenic	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA8913516	rs_775629081	2 SubmittersRCV000598343 RCV001237106
NM_000271.5(NPC1):c.3432C>G (p.Leu1144=)	SNV Germline	Chr18:23535514	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8912781	rs_191526202	2 SubmittersRCV000597552 RCV002062029
NM_000271.5(NPC1):c.3041+10G>A	SNV Germline	Chr18:23538532	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA297080637	rs_965937353	2 SubmittersRCV000593371 RCV002062033
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)	SNV Germline	Chr18:23540528	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913061	rs_190298665	7 SubmittersRCV000596349 RCV000649025 RCV003952965
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)	SNV Germline	Chr18:23541154	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913105	rs_145362908	10 SubmittersRCV000598092 RCV000688651 RCV003935608
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)	SNV Germline	Chr18:23534478	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8912731	rs_762517273	4 SubmittersRCV000591453 RCV000765404
NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly)	SNV Germline	Chr18:23554909	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA401776251	rs_1555636685	2 SubmittersRCV000595856 RCV002531052
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)	SNV Germline	Chr18:23556359	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401777639	rs_1298238512	8 SubmittersRCV000593107 RCV000727099 RCV005418233
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)	SNV Germline	Chr18:23554880	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913465	rs_375307057	7 SubmittersRCV000596422 RCV001086155 RCV003302915 RCV003915718
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)	SNV Germline	Chr18:23568984	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Conflicting Classifications	CA8913762	rs_548191894	4 SubmittersRCV000597242 RCV001377830 RCV006459641
NM_000271.5(NPC1):c.1671C>T (p.Asn557=)	SNV Germline	Chr18:23548092	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913396	rs_772427096	2 SubmittersRCV000591183 RCV001487223
NM_000271.5(NPC1):c.3492C>T (p.Ser1164=)	SNV Germline	Chr18:23534545	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8912746	rs_371160947	2 SubmittersRCV000591975 RCV001086674
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)	SNV Germline	Chr18:23551720	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8913425	rs_138184115	8 SubmittersRCV000595377 RCV000671781 RCV002532557
NM_000271.5(NPC1):c.1348A>G (p.Ile450Val)	SNV Germline	Chr18:23554963	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8913479	rs_141892620	5 SubmittersRCV000595669 RCV001435395 RCV004955697
NM_000271.5(NPC1):c.2604+1G>A	SNV Germline	Chr18:23540447	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401793063	rs_1555633454	2 SubmittersRCV000591979 RCV000727341
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)	SNV Germline	Chr18:23545088	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913364	rs_377130051	3 SubmittersRCV000595497 RCV001088123
NM_000271.5(NPC1):c.546C>T (p.Asp182=)	SNV Germline	Chr18:23561445	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8913709	rs_572499557	3 SubmittersRCV000595036 RCV001496209 RCV005443112
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)	SNV Germline	Chr18:23534534	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401791045	rs_1555631998	6 SubmittersRCV000597778 RCV000727481
NM_000271.5(NPC1):c.2449T>C (p.Leu817=)	SNV Germline	Chr18:23541133	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA297082118	rs_376980859	2 SubmittersRCV000595952 RCV002065184
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)	SNV Germline	Chr18:23534479	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912732	rs_141659629	4 SubmittersRCV000595442 RCV000765405 RCV004722965
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)	SNV Germline	Chr18:23533495	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401790799	rs_758902805	2 SubmittersRCV000603315 RCV000815386
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)	SNV Germline	Chr18:23556398	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401777922	rs_1555637139	1 SubmittersRCV000625917
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)	SNV Germline	Chr18:23539433	Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401792539	rs_1428599096	3 SubmittersRCV000649023 RCV002509492
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)	SNV Germline	Chr18:23556499	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401778535	rs_1555637232	3 SubmittersRCV000649024
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	SNV Germline	Chr18:23554875	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA401775700	rs_1555636659	5 SubmittersRCV000649020 RCV000728564 RCV003243238
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)	SNV Germline	Chr18:23535665	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 NPC1-related disorder not specified	Criteria Provided Conflicting Classifications	CA401791534	rs_1338658857	6 SubmittersRCV000660606 RCV003392508 RCV005240416
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)	SNV Germline	Chr18:23539981	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793002	rs_1555633361	1 SubmittersRCV000660448
NM_000271.5(NPC1):c.3754+3A>C	SNV Germline	Chr18:23533352	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA628677320	rs_1208252513	4 SubmittersRCV000671124 RCV002531271
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)	SNV Germline	Chr18:23533475	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Sphingomyelin/cholesterol lipidosis	Criteria Provided Multiple Submitters No Conflicts	CA8912687	rs_753419933	5 SubmittersRCV000675013 RCV003155279 RCV005627383
NM_000271.5(NPC1):c.3592-1G>C	SNV Unknown	Chr18:23533518	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401790849	rs_1555631653	1 SubmittersRCV000665336
NM_000271.5(NPC1):c.3591+2T>C	SNV Unknown	Chr18:23534444	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790856	rs_1555631888	2 SubmittersRCV000666631
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)	SNV Germline	Chr18:23535687	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA297079275	rs_746715353	4 SubmittersRCV000670900 RCV003330892 RCV004588097
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)	SNV Germline	Chr18:23536784	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA297079794	rs_893564568	4 SubmittersRCV000665689 RCV001844211
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr)	SNV Germline	Chr18:23540455	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793082	rs_1181604094	2 SubmittersRCV000672250
NM_000271.5(NPC1):c.3754+1G>C	SNV Unknown	Chr18:23533354	Likely pathogenic	Niemann-Pick disease, type C1 Ovarian serous cystadenocarcinoma	No Assertion Criteria Provided	CA401790487	rs_1555631571	2 SubmittersRCV000673885 RCV005901505
NM_000271.5(NPC1):c.1948-2A>T	SNV Unknown	Chr18:23544528	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401771881	rs_1555634513	1 SubmittersRCV000669985
NM_000271.5(NPC1):c.1947+2T>A	SNV Unknown	Chr18:23544958	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401772130	rs_764472245	1 SubmittersRCV000671319
NM_000271.5(NPC1):c.1947+1G>A	SNV Unknown	Chr18:23544959	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401772132	rs_1555634690	1 SubmittersRCV000668796
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)	SNV Germline	Chr18:23534537	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401791052	rs_1555632003	4 SubmittersRCV000673110 RCV003230572
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser)	SNV Germline	Chr18:23554785	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401775364	rs_1190383931	3 SubmittersRCV000669550 RCV005901470
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)	SNV Germline	Chr18:23539826	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA8912979	rs_753768576	7 SubmittersRCV000668027 RCV004721537 RCV004689840 RCV005443134
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)	SNV Germline	Chr18:23545006	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA297060739	rs_202140203	4 SubmittersRCV000669319 RCV002307585
NM_000271.5(NPC1):c.3G>A (p.Met1Ile)	SNV Germline	Chr18:23586341	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA402041566	rs_1555645630	2 SubmittersRCV000666536
NM_000271.5(NPC1):c.3754+1G>A	SNV Unknown	Chr18:23533354	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401790488	rs_1555631571	1 SubmittersRCV000665907
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)	SNV Germline	Chr18:23533364	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401790512	rs_1415921261	3 SubmittersRCV000671310 RCV005901493
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)	SNV Germline	Chr18:23539363	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8912937	rs_773767253	6 SubmittersRCV000670723 RCV002222596 RCV005638523
NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)	SNV Germline	Chr18:23544402	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401771363	rs_1555634422	4 SubmittersRCV000668135 RCV003128721
NM_000271.5(NPC1):c.1554-1009G>A	SNV Germline	Chr18:23552736	Pathogenic	Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA297066458	rs_1055204017	5 SubmittersRCV000669325 RCV003420185
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)	SNV Germline	Chr18:23554960	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Conflicting Classifications	CA8913476	rs_781065429	7 SubmittersRCV000670724 RCV000675577 RCV002282310
NM_000271.5(NPC1):c.58-2A>T	SNV Unknown	Chr18:23573576	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA402041456	rs_1555642347	1 SubmittersRCV000665968
NM_000271.5(NPC1):c.3754+1G>T	SNV Unknown	Chr18:23533354	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401790486	rs_1555631571	1 SubmittersRCV000667287
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile)	SNV Germline	Chr18:23535479	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791138	rs_28942105	2 SubmittersRCV000668091
NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter)	SNV Unknown	Chr18:23535485	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401791151	rs_1555632182	1 SubmittersRCV000673297
NM_000271.5(NPC1):c.3042-1G>A	SNV Germline	Chr18:23536877	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792060	rs_771806960	3 SubmittersRCV000667939
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)	SNV Germline	Chr18:23539424	Pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401792513	rs_1261939149	4 SubmittersRCV000668346 RCV003479193
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)	SNV Germline	Chr18:23541314	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401793596	rs_1555633697	5 SubmittersRCV000670704 RCV005870755 RCV005901483
NM_000271.5(NPC1):c.1948-1G>A	SNV Unknown	Chr18:23544527	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401771880	rs_1555634508	1 SubmittersRCV000673143
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp)	SNV Germline	Chr18:23545071	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401772950	rs_1555634739	2 SubmittersRCV000671227
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)	SNV Germline	Chr18:23554759	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8913447	rs_377515417	6 SubmittersRCV000665750 RCV002222586
NM_000271.5(NPC1):c.1327-1G>A	SNV Unknown	Chr18:23554985	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided	CA401776821	rs_1057516813	1 SubmittersRCV000670276
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)	SNV Germline	Chr18:23556413	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401778011	rs_1192824648	3 SubmittersRCV000668933 RCV004768532
NM_000271.5(NPC1):c.631+2T>C	SNV Germline	Chr18:23561358	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401782014	rs_1555638833	2 SubmittersRCV000673762
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro)	SNV Germline	Chr18:23556346	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA401777565	rs_1567965313	4 SubmittersRCV000680050 RCV003226370 RCV003325513
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)	SNV Germline	Chr18:23568980	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401785903	rs_751249367	6 SubmittersRCV000702851 RCV001531279
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)	SNV Germline	Chr18:23545064	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA8913361	rs_745777805	4 SubmittersRCV000685980 RCV001193402 RCV001265829
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg)	SNV Germline	Chr18:23568936	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401785525	rs_1567977251	1 SubmittersRCV000705147
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)	SNV Germline	Chr18:23535495	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8912773	rs_765729815	6 SubmittersRCV000689227 RCV000734932 RCV005240469
NM_000271.5(NPC1):c.180G>T (p.Gln60His)	SNV Germline	Chr18:23573452	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder Inborn genetic diseases Melanoma Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA8913815	rs_145666943	12 SubmittersRCV000728354 RCV001125610 RCV004748920 RCV005372421 RCV005901877 RCV005901876
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=)	SNV Germline	Chr18:23535553	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912785	rs_777356809	3 SubmittersRCV000728454 RCV001491430 RCV004748922
NM_000271.5(NPC1):c.90G>A (p.Glu30=)	SNV Germline	Chr18:23573542	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA503325959	rs_1273070261	2 SubmittersRCV000728476 RCV001449400
NM_000271.5(NPC1):c.3478-7A>C	SNV Germline	Chr18:23534566	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912749	rs_767148121	3 SubmittersRCV000728484 RCV002067088 RCV003892603
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)	SNV Germline	Chr18:23541387	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913150	rs_772565983	6 SubmittersRCV000728641 RCV000990078
NM_000271.5(NPC1):c.1764T>C (p.Ile588=)	SNV Germline	Chr18:23545143	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA503522102	rs_1380492295	2 SubmittersRCV000728808 RCV002067090
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)	SNV Germline	Chr18:23533377	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912675	rs_1621962	4 SubmittersRCV000728885 RCV001078915 RCV003908024
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser)	SNV Germline	Chr18:23545141	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA8913368	rs_147021046	3 SubmittersRCV000728946 RCV001054595 RCV006268979
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)	SNV Germline	Chr18:23532223	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912631	rs_375797728	4 SubmittersRCV000729182 RCV001086222 RCV003918193
NM_000271.5(NPC1):c.1533G>A (p.Thr511=)	SNV Germline	Chr18:23554778	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA297068123	rs_778890495	2 SubmittersRCV000729184 RCV001481316
NM_000271.5(NPC1):c.411G>A (p.Thr137=)	SNV Germline	Chr18:23568875	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913748	rs_756405444	2 SubmittersRCV000729425 RCV002067094
NM_000271.5(NPC1):c.3246-8C>T	SNV Germline	Chr18:23535708	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder not specified	Criteria Provided Conflicting Classifications	CA8912811	rs_145227129	6 SubmittersRCV000730065 RCV001078914 RCV003965519 RCV004586905
NM_000271.5(NPC1):c.2911+10C>T	SNV Germline	Chr18:23539345	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8912933	rs_370382673	3 SubmittersRCV000730140 RCV001454222 RCV003953311
NM_000271.5(NPC1):c.684C>T (p.Asp228=)	SNV Germline	Chr18:23560428	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913667	rs_558452690	2 SubmittersRCV000730765 RCV001438587
NM_000271.5(NPC1):c.1535A>G (p.His512Arg)	SNV Germline	Chr18:23554776	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA401775303	rs_1567963883	2 SubmittersRCV000731119 RCV002536459
NM_000271.5(NPC1):c.180+8C>T	SNV Germline	Chr18:23573444	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913812	rs_778096289	3 SubmittersRCV000731159 RCV001466251
NM_000271.5(NPC1):c.273A>G (p.Leu91=)	SNV Germline	Chr18:23572088	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913781	rs_370718676	2 SubmittersRCV000731432 RCV001431872
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)	SNV Germline	Chr18:23561520	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913722	rs_145101354	4 SubmittersRCV000731741 RCV001088848 RCV002334411 RCV003918208
NM_000271.5(NPC1):c.2808C>T (p.Gly936=)	SNV Germline	Chr18:23539458	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA503322582	rs_1567949544	2 SubmittersRCV000731894 RCV001450530
NM_000271.5(NPC1):c.58-4G>A	SNV Germline	Chr18:23573578	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913832	rs_767683969	2 SubmittersRCV000731949 RCV001461554
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile)	SNV Germline	Chr18:23545037	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 not specified NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913354	rs_76615690	4 SubmittersRCV000732400 RCV001423801 RCV003230582 RCV004748943
NM_000271.5(NPC1):c.444C>G (p.Val148=)	SNV Germline	Chr18:23568842	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA503325572	rs_899764342	2 SubmittersRCV000732457 RCV001448000
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)	SNV Germline	Chr18:23554790	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913455	rs_780100866	3 SubmittersRCV000732498 RCV001452547
NM_000271.5(NPC1):c.1549G>A (p.Val517Ile)	SNV Germline	Chr18:23554762	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913448	rs_201791992	3 SubmittersRCV000732955 RCV001392755 RCV003396308
NM_000271.5(NPC1):c.2472C>G (p.Ser824=)	SNV Germline	Chr18:23541110	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA503521870	rs_1567951608	2 SubmittersRCV000733300 RCV001436603
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)	SNV Germline	Chr18:23535657	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA297079250	rs_758829443	4 SubmittersRCV000733557 RCV001814228
NM_000271.5(NPC1):c.2514+7G>A	SNV Germline	Chr18:23541061	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913079	rs_764548800	3 SubmittersRCV000733760 RCV001083770
NM_000271.5(NPC1):c.3300C>T (p.Phe1100=)	SNV Germline	Chr18:23535646	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA503521758	rs_1567945743	2 SubmittersRCV000733987 RCV002535360
NM_000271.5(NPC1):c.3159C>T (p.Asp1053=)	SNV Germline	Chr18:23536759	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8912848	rs_201460899	3 SubmittersRCV000734124 RCV001503668 RCV002325451
NM_000271.5(NPC1):c.3489C>T (p.Ile1163=)	SNV Germline	Chr18:23534548	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA297078702	rs_911696662	3 SubmittersRCV000734600 RCV002535385
NM_000271.5(NPC1):c.3477+2T>C	SNV Germline	Chr18:23535467	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8912769	rs_772898831	1 SubmittersRCV000814344
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)	SNV Germline	Chr18:23556257	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401777070	rs_750292546	2 SubmittersRCV000825537 RCV001858400
NM_006432.5(NPC2):c.273T>C (p.Asp91=)	SNV Germline	Chr14:74484505	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C2 Niemann-Pick disease, type C1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7268154	rs_151071820	6 SubmittersRCV000887835 RCV001115295 RCV001531810 RCV003307667
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)	SNV Germline	Chr18:23554832	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913460	rs_148078801	3 SubmittersRCV001127621
NM_000271.5(NPC1):c.2130+10C>G	SNV Germline	Chr18:23544334	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8913224	rs_776389852	4 SubmittersRCV000931640 RCV006442062
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)	SNV Germline	Chr18:23539946	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401792923	rs_1169032037	3 SubmittersRCV000990076
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)	SNV Germline	Chr18:23540458	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401793087	rs_1160114136	2 SubmittersRCV000990077
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)	SNV Germline	Chr18:23536688	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8912837	rs_534280005	4 SubmittersRCV000996656 RCV001805961 RCV002549945
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	CA5852824	rs_755160837	8 SubmittersRCV001004585 RCV001213865 RCV003447572
NM_000271.5(NPC1):c.2359A>G (p.Ile787Val)	SNV Germline	Chr18:23541320	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913137	rs_202046984	3 SubmittersRCV001034153 RCV004749587
NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)	SNV Germline	Chr18:23534447	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA401790860	rs_1234099104	2 SubmittersRCV001171635
NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg)	SNV Germline	Chr18:23534530	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791036	rs_2058596611	1 SubmittersRCV001171636
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)	SNV Germline	Chr18:23544989	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Single Submitter	CA401772198	rs_2058768195	4 SubmittersRCV001045153 RCV001528817
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)	SNV Germline	Chr18:23556404	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Sphingomyelin/cholesterol lipidosis	Criteria Provided Conflicting Classifications	CA297069514	rs_1053321823	6 SubmittersRCV001070899 RCV003323794 RCV005627407
NM_000271.5(NPC1):c.81G>A (p.Trp27Ter)	SNV Germline	Chr18:23573551	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA402041395	rs_2059233403	1 SubmittersRCV001040642
NM_000271.5(NPC1):c.180+1G>C	SNV Germline	Chr18:23573451	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401787298	rs_2059231880	1 SubmittersRCV001040583
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter)	SNV Germline	Chr18:23568940	Pathogenic	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA8913756	rs_144973225	3 SubmittersRCV001092830 RCV001386168
NM_000271.5(NPC1):c.2614A>G (p.Met872Val)	SNV Germline	Chr18:23539992	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8913012	rs_769612789	3 SubmittersRCV001127529 RCV004649457
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)	SNV Germline	Chr18:23541342	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Inborn genetic diseases NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913143	rs_367654655	4 SubmittersRCV001123408 RCV002451331 RCV004749607
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)	SNV Germline	Chr18:23548091	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA297062945	rs_201156397	2 SubmittersRCV001127620
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)	SNV Germline	Chr18:23554881	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913466	rs_761459069	2 SubmittersRCV001123522
NM_000271.5(NPC1):c.984C>T (p.Ser328=)	SNV Germline	Chr18:23556585	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 NPC1-related disorder	Criteria Provided Conflicting Classifications	CA8913559	rs_760861487	3 SubmittersRCV001123524 RCV004749608
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)	SNV Germline	Chr18:23556607	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8913564	rs_138079168	3 SubmittersRCV001123525 RCV001760089
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)	SNV Germline	Chr18:23561481	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA297075319	rs_887908568	3 SubmittersRCV001125609 RCV002348570
NM_000271.5(NPC1):c.2514+15G>A	SNV Germline	Chr18:23541053	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8913075	rs_765825660	2 SubmittersRCV001127530
NM_000271.5(NPC1):c.1948-11G>A	SNV Germline	Chr18:23544537	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8913258	rs_371122321	3 SubmittersRCV001125521 RCV001568729
NM_000271.5(NPC1):c.1947+12G>C	SNV Germline	Chr18:23544948	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA777725109	rs_886053666	2 SubmittersRCV001125522
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)	SNV Germline	Chr18:23539466	Pathogenic	Niemann-Pick disease, type C Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8912953	rs_370721218	5 SubmittersRCV001174732 RCV001383764 RCV001570592
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)	SNV Germline	Chr18:23572180	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401786671	rs_2059213874	3 SubmittersRCV001198345 RCV005641980
NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter)	SNV Germline	Chr18:23534475	Pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8912728	rs_776701050	2 SubmittersRCV001214280 RCV006269333
NM_000271.5(NPC1):c.3477+1G>A	SNV Germline	Chr18:23535468	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791115	rs_1405889589	1 SubmittersRCV001224030
NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter)	SNV Germline	Chr18:23556308	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401777355	rs_2058949363	2 SubmittersRCV001231538
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)	SNV Germline	Chr18:23536818	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 NPC1-related disorder Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401791940	rs_2058637844	5 SubmittersRCV001248808 RCV003399019 RCV005236731
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)	SNV Germline	Chr18:23538563	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA8912895	rs_764789542	2 SubmittersRCV001250198
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)	SNV Germline	Chr18:23539998	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793044	rs_2058690179	1 SubmittersRCV001250197
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)	SNV Germline	Chr18:23556472	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401778359	rs_1278305591	1 SubmittersRCV001250196
NM_000271.5(NPC1):c.2795+56C>T	SNV Germline	Chr18:23539755	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA1139665978	rs_2058685029	1 SubmittersRCV001251158
NM_000271.5(NPC1):c.2130+1G>A	SNV Germline	Chr18:23544343	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401771243	rs_2058753286	3 SubmittersRCV001261652
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter)	SNV Unknown	Chr18:23535673	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791550	rs_1598937493	1 SubmittersRCV001264326
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)	SNV Germline	Chr18:23535691	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401791594	rs_774602107	2 SubmittersRCV001264327
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter)	SNV Unknown	Chr18:23536782	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791860	rs_1446718670	1 SubmittersRCV001264328
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter)	SNV Unknown	Chr18:23539365	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792383	rs_2058679233	1 SubmittersRCV001264329
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter)	SNV Unknown	Chr18:23539864	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792746	rs_2058687419	1 SubmittersRCV001264330
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter)	SNV Unknown	Chr18:23539936	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792905	rs_780592540	1 SubmittersRCV001264331
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter)	SNV Unknown	Chr18:23540473	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793123	rs_2058698544	1 SubmittersRCV001264332
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)	SNV Unknown	Chr18:23540477	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793129	rs_2058698654	1 SubmittersRCV001264333
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter)	SNV Unknown	Chr18:23544382	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401771327	rs_2058754064	1 SubmittersRCV001263759
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter)	SNV Unknown	Chr18:23554974	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401776746	rs_2058929021	1 SubmittersRCV001263760
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter)	SNV Unknown	Chr18:23556477	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401778391	rs_2058953311	1 SubmittersRCV001263761
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter)	SNV Unknown	Chr18:23556499	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401778537	rs_1555637232	1 SubmittersRCV001263762
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)	SNV Unknown	Chr18:23557171	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401779745	rs_150154006	1 SubmittersRCV001263763
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter)	SNV Unknown	Chr18:23560240	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401780771	rs_2059018297	1 SubmittersRCV001263764
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter)	SNV Unknown	Chr18:23560431	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401781353	rs_2059021939	1 SubmittersRCV001263765
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter)	SNV Unknown	Chr18:23561405	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401782223	rs_754653682	1 SubmittersRCV001263766
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter)	SNV Unknown	Chr18:23568947	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401785620	rs_2059164609	1 SubmittersRCV001263844
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter)	SNV Unknown	Chr18:23568959	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401785739	rs_2059164764	1 SubmittersRCV001263845
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter)	SNV Unknown	Chr18:23573544	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA402041378	rs_2059233326	1 SubmittersRCV001263846
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)	SNV Germline	Chr18:23539830	Pathogenic/Likely pathogenic	Inborn genetic diseases Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8912981	rs_564631426	4 SubmittersRCV001265934 RCV001880105 RCV005408788
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)	SNV Germline	Chr18:23544402	Likely pathogenic	Sphingomyelin/cholesterol lipidosis Niemann-Pick disease, type C Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401771365	rs_1555634422	3 SubmittersRCV001267686 RCV003230656 RCV003605754
NM_000271.5(NPC1):c.745C>T (p.Pro249Ser)	SNV Germline	Chr18:23560367	Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401781214	rs_1184804915	2 SubmittersRCV001269829 RCV005606797
NM_000271.5(NPC1):c.743G>T (p.Gly248Val)	SNV Germline	Chr18:23560369	Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401781217	rs_1230538609	3 SubmittersRCV001289552 RCV005408807
NM_000271.5(NPC1):c.506A>T (p.Asn169Ile)	SNV Germline	Chr18:23561485	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401782786	rs_767361180	3 SubmittersRCV001290125
NM_000271.5(NPC1):c.3419G>T (p.Gly1140Val)	SNV Germline	Chr18:23535527	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791238	rs_2058616184	1 SubmittersRCV001321455
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)	SNV Germline	Chr18:23538582	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401792165	rs_2058666849	4 SubmittersRCV001327013 RCV004719134 RCV005408835
NM_000271.5(NPC1):c.1901A>T (p.Tyr634Phe)	SNV Germline	Chr18:23545006	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401772234	rs_202140203	2 SubmittersRCV001318487 RCV005911027
NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter)	SNV Unknown	Chr18:23541382	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793746	rs_2058711607	1 SubmittersRCV001332329
NM_000271.5(NPC1):c.2246-2A>G	SNV Germline	Chr18:23541435	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter		rs_2058712401	1 SubmittersRCV005203453
NM_000271.5(NPC1):c.2374-1G>A	SNV Germline	Chr18:23541209	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793569	rs_2145381556	1 SubmittersRCV001358671
NM_000271.5(NPC1):c.2291C>T (p.Ala764Val)	SNV Germline	Chr18:23541388	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8913151	rs_773765255	1 SubmittersRCV001377828
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser)	SNV Germline	Chr18:23551654	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401774770	rs_2145433190	1 SubmittersRCV001377547
NM_000271.5(NPC1):c.1270C>T (p.Pro424Ser)	SNV Germline	Chr18:23556299	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA401777299	rs_143797098	2 SubmittersRCV001377029 RCV005648143
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)	SNV Germline	Chr18:23556455	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401778276	rs_1346436537	5 SubmittersRCV001377829 RCV003226468 RCV004720885
NM_000271.5(NPC1):c.463+2T>G	SNV Germline	Chr18:23568821	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401784638	rs_2145526252	1 SubmittersRCV001379196
NM_000271.5(NPC1):c.3044G>T (p.Gly1015Val)	SNV Germline	Chr18:23536874	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8912866	rs_761773567	1 SubmittersRCV001383763
NM_000271.5(NPC1):c.2928C>A (p.Cys976Ter)	SNV Germline	Chr18:23538655	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792315	rs_370766410	1 SubmittersRCV001387073
NM_000271.5(NPC1):c.2683G>T (p.Glu895Ter)	SNV Germline	Chr18:23539923	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792876	rs_2145373524	1 SubmittersRCV001385787
NM_000271.5(NPC1):c.1654+1G>A	SNV Germline	Chr18:23551626	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401774709	rs_2145433024	1 SubmittersRCV001382711
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala)	SNV Germline	Chr18:23556446	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8913531	rs_746372120	1 SubmittersRCV001380115
NM_000271.5(NPC1):c.349C>T (p.Gln117Ter)	SNV Germline	Chr18:23568937	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401785531	rs_2145527075	1 SubmittersRCV001383912
NM_000271.5(NPC1):c.85G>T (p.Gly29Ter)	SNV Germline	Chr18:23573547	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA402041383	rs_2145552346	1 SubmittersRCV001383131
NM_000271.5(NPC1):c.110A>G (p.Asp37Gly)	SNV Germline	Chr18:23573522	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 NPC1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8913824	rs_776181190	3 SubmittersRCV001460913 RCV004749694 RCV006557459
NM_000271.5(NPC1):c.2912-5G>A	SNV Germline	Chr18:23538676	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 NPC1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8912912	rs_369985476	3 SubmittersRCV001490993 RCV004749703 RCV005256809
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)	SNV Germline	Chr18:23560417	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8913663	rs_201956601	3 SubmittersRCV001487935 RCV006557468
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr)	SNV Germline	Chr18:23554878	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401775714	rs_2145447716	1 SubmittersRCV001580608
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)	SNV Germline	Chr18:23541314	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401793597	rs_1555633697	2 SubmittersRCV001786523
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser)	SNV Germline	Chr18:23544366	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401771291	rs_2058753693	2 SubmittersRCV001797017
NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile)	SNV Germline	Chr18:23536715	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1 NPC1-related disorder Inborn genetic diseases Russell-Silver syndrome	Criteria Provided Conflicting Classifications	CA8912841	rs_754323286	8 SubmittersRCV001800083 RCV002544377 RCV003407813 RCV004040878 RCV005626490
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter)	SNV Germline	Chr18:23539419	Pathogenic	Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA401792500	rs_2145370569	2 SubmittersRCV001807957 RCV002541460
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser)	SNV Germline	Chr18:23538627	Conflicting classifications of pathogenicity	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA401792261	rs_1364834942	3 SubmittersRCV001822151 RCV001869651
NM_000271.5(NPC1):c.2519C>A (p.Ala840Glu)	SNV Germline	Chr18:23540533	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793243	rs_2145378239	1 SubmittersRCV001823514
NM_000271.5(NPC1):c.464-2A>C	SNV Germline	Chr18:23561529	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401783122	rs_2145485704	2 SubmittersRCV003500689 RCV001825048
NM_000271.5(NPC1):c.1844G>A (p.Arg615His)	SNV Germline	Chr18:23545063	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401772841	rs_773351341	1 SubmittersRCV001988681
NM_000271.5(NPC1):c.1028G>A (p.Gly343Glu)	SNV Germline	Chr18:23556541	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401778796	rs_1444308532	1 SubmittersRCV001923227
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu)	SNV Germline	Chr18:23556403	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401777941	rs_373751051	1 SubmittersRCV001989546
NM_000271.5(NPC1):c.1166G>A (p.Arg389His)	SNV Germline	Chr18:23556403	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8913527	rs_373751051	1 SubmittersRCV001989551
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg)	SNV Germline	Chr18:23535513	Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401791208	rs_2145350224	2 SubmittersRCV002015000 RCV006458861
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg)	SNV Germline	Chr18:23551669	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401774802	rs_2145433298	1 SubmittersRCV002013524
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala)	SNV Germline	Chr18:23556541	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401778794	rs_1444308532	1 SubmittersRCV002048164
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr)	SNV Germline	Chr18:23572173	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401786634	rs_2145544950	1 SubmittersRCV001990349
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu)	SNV Germline	Chr18:23544484	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8913241	rs_376213990	1 SubmittersRCV001969112
NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu)	SNV Germline	Chr18:23556308	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA401777356	rs_2058949363	2 SubmittersRCV001950501 RCV002442918
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)	SNV Germline	Chr18:23535552	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA297079175	rs_1046046139	3 SubmittersRCV001938161
NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala)	SNV Germline	Chr18:23544403	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401771367	rs_2058754429	2 SubmittersRCV002049074 RCV005419323
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu)	SNV Germline	Chr18:23534544	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA8912745	rs_748862167	2 SubmittersRCV002017447 RCV003402041
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu)	SNV Germline	Chr18:23554761	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401775226	rs_2145446753	1 SubmittersRCV001971644
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser)	SNV Germline	Chr18:23545064	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401772863	rs_745777805	1 SubmittersRCV002001321
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu)	SNV Germline	Chr18:23544474	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401771622	rs_2058756032	2 SubmittersRCV001892286
NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu)	SNV Germline	Chr18:23554899	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8913470	rs_201226297	2 SubmittersRCV001916974 RCV004720978
NM_000271.5(NPC1):c.3591+2T>A	SNV Germline	Chr18:23534444	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790855	rs_1555631888	1 SubmittersRCV002000176
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser)	SNV Germline	Chr18:23538651	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401792308	rs_28942108	2 SubmittersRCV002024676
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)	SNV Germline	Chr18:23548091	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8913395	rs_201156397	3 SubmittersRCV002038330 RCV006262340
NM_000271.5(NPC1):c.2604+5G>A	SNV Germline	Chr18:23540443	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA2290166229	rs_2058697907	1 SubmittersRCV001870804
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val)	SNV Germline	Chr18:23534516	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA297078678	rs_780175800	1 SubmittersRCV001979490
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly)	SNV Germline	Chr18:23543500	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401770822	rs_2145394815	1 SubmittersRCV002050898
NM_000271.5(NPC1):c.3068T>G (p.Val1023Gly)	SNV Germline	Chr18:23536850	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792005	rs_2145357984	1 SubmittersRCV001913022
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly)	SNV Germline	Chr18:23535524	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA297079167	rs_144725473	2 SubmittersRCV001864018 RCV004690149
NM_000271.5(NPC1):c.1415T>C (p.Leu472Pro)	SNV Germline	Chr18:23554896	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401775782	rs_2145447843	1 SubmittersRCV002019754
NM_000271.5(NPC1):c.2933G>A (p.Arg978His)	SNV Germline	Chr18:23538650	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA8912907	rs_752728865	2 SubmittersRCV002023091
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)	SNV Germline	Chr18:23556527	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401778711	rs_1474434210	4 SubmittersRCV001935139 RCV003226501 RCV004591626
NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)	SNV Unknown	Chr18:23554893	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401775772	rs_2511276304	1 SubmittersRCV002291318
NM_000271.5(NPC1):c.956-2A>G	SNV Germline	Chr18:23556615	Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401779223	rs_1473909084	2 SubmittersRCV002224515 RCV003774660
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)	SNV Germline	Chr18:23551666	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401774796	rs_2511262796	1 SubmittersRCV002284061
NM_000271.5(NPC1):c.1757+1G>T	SNV Germline	Chr18:23548005	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401773365	rs_2058813191	1 SubmittersRCV002284064
NM_000271.5(NPC1):c.1757+2T>G	SNV Germline	Chr18:23548004	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401773361	rs_2511249838	1 SubmittersRCV002284066
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)	SNV Germline	Chr18:23544447	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401771471	rs_2145400163	1 SubmittersRCV002284068
NM_000271.5(NPC1):c.2130+1G>C	SNV Germline	Chr18:23544343	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401771242	rs_2058753286	1 SubmittersRCV002284072
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)	SNV Germline	Chr18:23543554	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401770937	rs_1454412918	2 SubmittersRCV002284074
NM_000271.5(NPC1):c.2515-2A>G	SNV Germline	Chr18:23540539	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793258	rs_2511218496	1 SubmittersRCV002284076
NM_000271.5(NPC1):c.2604+2T>G	SNV Germline	Chr18:23540446	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793060	rs_2511217778	1 SubmittersRCV002284077
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)	SNV Germline	Chr18:23539911	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792849	rs_2511213925	1 SubmittersRCV002284080
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)	SNV Germline	Chr18:23539848	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792710	rs_2511213406	1 SubmittersRCV002284084
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)	SNV Germline	Chr18:23539836	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401792680	rs_2511213296	2 SubmittersRCV002284085 RCV006262405
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)	SNV Germline	Chr18:23539824	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792654	rs_2511213147	1 SubmittersRCV002284086
NM_000271.5(NPC1):c.3041+1G>T	SNV Germline	Chr18:23538541	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792068	rs_2145366125	1 SubmittersRCV002284091
NM_000271.5(NPC1):c.3245+1G>T	SNV Germline	Chr18:23536672	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791625	rs_2511196440	1 SubmittersRCV002284095
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)	SNV Germline	Chr18:23535681	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791572	rs_374526072	1 SubmittersRCV002284097
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)	SNV Germline	Chr18:23535632	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791461	rs_2145351377	1 SubmittersRCV002284100
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)	SNV Germline	Chr18:23568948	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401785632	rs_2511341428	1 SubmittersRCV002284102
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)	SNV Germline	Chr18:23556283	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401777212	rs_2511282261	1 SubmittersRCV002284104
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)	SNV Germline	Chr18:23534547	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791074	rs_2511184214	1 SubmittersRCV002284105
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)	SNV Germline	Chr18:23533495	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790800	rs_758902805	1 SubmittersRCV002284107
NM_000271.5(NPC1):c.497C>A (p.Pro166His)	SNV Germline	Chr18:23561494	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401782849	rs_2511309549	1 SubmittersRCV002284112
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)	SNV Germline	Chr18:23561462	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401782619	rs_2511309222	1 SubmittersRCV002284113
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)	SNV Germline	Chr18:23561459	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401782596	rs_2511309193	1 SubmittersRCV002284114
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)	SNV Germline	Chr18:23554972	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401776735	rs_1057517077	3 SubmittersRCV002284115 RCV006454198
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)	SNV Germline	Chr18:23561440	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401782436	rs_1555638882	2 SubmittersRCV002284116 RCV003226538
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)	SNV Germline	Chr18:23561417	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA297075236	rs_556117842	2 SubmittersRCV002284117
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)	SNV Unknown	Chr18:23557166	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401779706	rs_2511288528	1 SubmittersRCV002309832
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)	SNV Germline	Chr18:23573459	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA402041185	rs_2511357450	2 SubmittersRCV002308095
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)	SNV Unknown	Chr18:23554940	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401776489	rs_779065920	1 SubmittersRCV002308191
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)	SNV Unknown	Chr18:23534484	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790936	rs_750739947	1 SubmittersRCV002309227
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)	SNV Unknown	Chr18:23573557	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA402041410	rs_2511358085	1 SubmittersRCV002309258
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)	SNV Unknown	Chr18:23556387	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401777856	rs_2511283263	1 SubmittersRCV002306976
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)	SNV Unknown	Chr18:23551639	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401774737	rs_2511262593	1 SubmittersRCV002307302
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)	SNV Unknown	Chr18:23539395	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792450	rs_2511210229	1 SubmittersRCV002310379
NM_000271.5(NPC1):c.3173C>A (p.Ala1058Asp)	SNV Germline	Chr18:23536745	Conflicting classifications of pathogenicity	Inborn genetic diseases NPC1-related disorder Niemann-Pick disease, type C1	Criteria Provided Conflicting Classifications	CA401791777	rs_2511197050	3 SubmittersRCV002322666 RCV003408228 RCV006470497
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)	SNV Germline	Chr18:23533472	Pathogenic/Likely pathogenic	Condition: not provided Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8912686	rs_766178353	3 SubmittersRCV002505928 RCV002574717 RCV003235730
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)	SNV Germline	Chr18:23538608	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8912900	rs_757534240	2 SubmittersRCV003050499 RCV003230762
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)	SNV Germline	Chr18:23554891	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA297068266	rs_1040639267	1 SubmittersRCV003050500
NM_000271.5(NPC1):c.1201C>A (p.Pro401Thr)	SNV Germline	Chr18:23556368	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401777707	rs_766301620	1 SubmittersRCV003041330
NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)	SNV Germline	Chr18:23572086	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401786362	rs_2145544354	2 SubmittersRCV003064506
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)	SNV Germline	Chr18:23572174	Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA8913794	rs_747049347	2 SubmittersRCV003064507 RCV006454320
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)	SNV Germline	Chr18:23543566	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8913196	rs_776682510	1 SubmittersRCV003089602
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)	SNV Germline	Chr18:23536818	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401791941	rs_2058637844	2 SubmittersRCV002617205 RCV004526937
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)	SNV Germline	Chr18:23540526	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401793230	rs_1462754046	2 SubmittersRCV002605692 RCV004587367
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)	SNV Germline	Chr18:23540530	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793238	rs_1363313204	2 SubmittersRCV002726695
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)	SNV Germline	Chr18:23535680	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791569	rs_2511191394	1 SubmittersRCV002819844
NM_000271.5(NPC1):c.80G>A (p.Trp27Ter)	SNV Germline	Chr18:23573552	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA402041399	rs_2511358068	1 SubmittersRCV002797169
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)	SNV Germline	Chr18:23535495	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791169	rs_765729815	1 SubmittersRCV002823923
NM_000271.5(NPC1):c.2641C>T (p.Gln881Ter)	SNV Germline	Chr18:23539965	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792964	rs_2511214388	1 SubmittersRCV002857322
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)	SNV Germline	Chr18:23535511	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791203	rs_753637056	1 SubmittersRCV002894754
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)	SNV Germline	Chr18:23536812	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791929	rs_2511197628	1 SubmittersRCV002928093
NM_000271.5(NPC1):c.2796-2A>T	SNV Germline	Chr18:23539472	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792617	rs_2511210964	1 SubmittersRCV002952698
NM_000271.5(NPC1):c.631+1G>T	SNV Germline	Chr18:23561359	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401782020	rs_2511308216	1 SubmittersRCV002953354
NM_000271.5(NPC1):c.178C>T (p.Gln60Ter)	SNV Germline	Chr18:23573454	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401787318	rs_2511357416	1 SubmittersRCV003022849
NM_000271.5(NPC1):c.463+1G>A	SNV Germline	Chr18:23568822	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401784649	rs_2511340604	1 SubmittersRCV003021667
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)	SNV Germline	Chr18:23534480	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790927	rs_200444084	1 SubmittersRCV003043727
NM_000271.5(NPC1):c.3478-1G>C	SNV Germline	Chr18:23534560	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791106	rs_2511184326	1 SubmittersRCV003053544
NM_000271.5(NPC1):c.1026G>A (p.Trp342Ter)	SNV Germline	Chr18:23556543	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401778812	rs_2511284626	1 SubmittersRCV003045028
NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)	SNV Germline	Chr18:23535700	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791616	rs_761952957	1 SubmittersRCV003234979
NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser)	SNV Germline	Chr18:23539866	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792752	rs_2511213538	1 SubmittersRCV003236706
NM_000271.5(NPC1):c.2246-1G>A	SNV Unknown	Chr18:23541434	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793851	rs_2511223044	1 SubmittersRCV003315271
NM_000271.5(NPC1):c.1955C>G (p.Ser652Trp)	SNV Germline	Chr18:23544519	Pathogenic/Likely pathogenic	NPC1-related disorder Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA297059738	rs_765652543	2 SubmittersRCV003402325 RCV005104328
NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)	SNV Germline	Chr18:23534541	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401791063	rs_1567944248	2 SubmittersRCV003486329
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)	SNV Germline	Chr18:23534535	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791047	rs_2511184148	1 SubmittersRCV003500970
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)	SNV Germline	Chr18:23533378	Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401790539	rs_2511176179	3 SubmittersRCV003501729 RCV004526997
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)	SNV Germline	Chr18:23533462	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790732	rs_2058572854	1 SubmittersRCV003501730
NM_000271.5(NPC1):c.3426G>A (p.Met1142Ile)	SNV Germline	Chr18:23535520	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791227	rs_1165786597	1 SubmittersRCV003501731
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)	SNV Germline	Chr18:23536733	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401791756	rs_2511196908	1 SubmittersRCV003501732
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)	SNV Germline	Chr18:23538548	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792086	rs_2511204987	1 SubmittersRCV003501734
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)	SNV Germline	Chr18:23538657	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792319	rs_769570326	1 SubmittersRCV003501735
NM_000271.5(NPC1):c.2662C>T (p.Pro888Ser)	SNV Germline	Chr18:23539944	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792920	rs_1191346899	1 SubmittersRCV003501736
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)	SNV Germline	Chr18:23541093	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401793320	rs_770700616	2 SubmittersRCV003501737 RCV004701739
NM_000271.5(NPC1):c.2323C>T (p.Gln775Ter)	SNV Germline	Chr18:23541356	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793689	rs_1338210490	1 SubmittersRCV003501738
NM_000271.5(NPC1):c.2245+1G>A	SNV Germline	Chr18:23543454	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Multiple Submitters No Conflicts	CA401770652	rs_2511229476	2 SubmittersRCV003501739
NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)	SNV Germline	Chr18:23543529	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401770881	rs_1393388896	2 SubmittersRCV003501740 RCV005240831
NM_000271.5(NPC1):c.1501G>T (p.Asp501Tyr)	SNV Germline	Chr18:23554810	Pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401775510	rs_2511275485	2 SubmittersRCV003501741 RCV005419656
NM_000271.5(NPC1):c.956-1G>T	SNV Germline	Chr18:23556614	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8913565	rs_756853895	1 SubmittersRCV003500035
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)	SNV Germline	Chr18:23540459	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793091	rs_977397569	1 SubmittersRCV003500105
NM_000271.5(NPC1):c.274C>T (p.Gln92Ter)	SNV Germline	Chr18:23572087	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401786363	rs_2511352133	1 SubmittersRCV003500204
NM_000271.5(NPC1):c.2514+1G>A	SNV Germline	Chr18:23541067	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793263	rs_757477471	1 SubmittersRCV003501016
NM_000271.5(NPC1):c.3591+2T>G	SNV Germline	Chr18:23534444	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790857	rs_1555631888	1 SubmittersRCV003605952
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)	SNV Germline	Chr18:23544421	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401771407	rs_1310067072	1 SubmittersRCV003605983
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)	SNV Germline	Chr18:23541389	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793757	rs_2511222745	1 SubmittersRCV003606164
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)	SNV Germline	Chr18:23539448	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792572	rs_2511210759	1 SubmittersRCV003606162
NM_000271.5(NPC1):c.180+1G>T	SNV Germline	Chr18:23573451	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401787295	rs_2059231880	1 SubmittersRCV003606153
NM_000271.5(NPC1):c.881+1G>A	SNV Germline	Chr18:23560230	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401780712	rs_1555638409	1 SubmittersRCV003606321
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)	SNV Germline	Chr18:23533475	Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401790758	rs_753419933	2 SubmittersRCV003606438 RCV006455712
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)	SNV Germline	Chr18:23554777	Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401775311	rs_1168944129	2 SubmittersRCV003605133 RCV005433434
NM_000271.5(NPC1):c.65C>G (p.Ser22Ter)	SNV Germline	Chr18:23573567	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA402041432	rs_2511358187	1 SubmittersRCV003605138
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)	SNV Germline	Chr18:23561491	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8913720	rs_752409181	1 SubmittersRCV003605185
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)	SNV Germline	Chr18:23543566	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401771213	rs_776682510	1 SubmittersRCV003605303
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)	SNV Germline	Chr18:23554875	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401775698	rs_1555636659	1 SubmittersRCV003605278
NM_000271.5(NPC1):c.3670T>C (p.Phe1224Leu)	SNV Germline	Chr18:23533439	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790677	rs_2058572301	1 SubmittersRCV003605217
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)	SNV Germline	Chr18:23543500	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401770821	rs_2145394815	1 SubmittersRCV003605321
NM_000271.5(NPC1):c.2780C>G (p.Ala927Gly)	SNV Germline	Chr18:23539826	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792657	rs_753768576	1 SubmittersRCV003605342
NM_000271.5(NPC1):c.1757+1G>A	SNV Germline	Chr18:23548005	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401773364	rs_2058813191	1 SubmittersRCV003605430
NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)	SNV Germline	Chr18:23541151	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401793443	rs_2058707982	1 SubmittersRCV003605389
NM_000271.5(NPC1):c.1182C>G (p.Tyr394Ter)	SNV Germline	Chr18:23556387	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401777855	rs_2511283263	1 SubmittersRCV003605405
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)	SNV Germline	Chr18:23540485	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401793146	rs_1241975606	2 SubmittersRCV003605552 RCV005419682
NM_000271.5(NPC1):c.3591+121C>T	SNV Germline	Chr18:23534325	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA777714582	rs_1444840655	1 SubmittersRCV003606625
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)	SNV Germline	Chr18:23534465	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401790901	rs_2511183411	2 SubmittersRCV003606671 RCV004701802
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)	SNV Germline	Chr18:23543499	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401770819	rs_757475924	2 SubmittersRCV003606698 RCV004527004
NM_000271.5(NPC1):c.3106A>G (p.Thr1036Ala)	SNV Germline	Chr18:23536812	Pathogenic/Likely pathogenic	Niemann-Pick disease, type C1 Niemann-Pick disease, type C	Criteria Provided Multiple Submitters No Conflicts	CA401791930	rs_2511197628	2 SubmittersRCV003606675 RCV005419686
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)	SNV Germline	Chr18:23535479	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1 not specified	Criteria Provided Conflicting Classifications	CA401791139	rs_28942105	2 SubmittersRCV003606862 RCV005407238
NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)	SNV Germline	Chr18:23551650	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401774764	rs_2511262669	1 SubmittersRCV003606966
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)	SNV Germline	Chr18:23540459	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA297081771	rs_977397569	1 SubmittersRCV003825754
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)	SNV Germline	Chr18:23539422	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401792508	rs_2511210490	1 SubmittersRCV003836224
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)	SNV Germline	Chr18:23540527	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA8913060	rs_374068891	1 SubmittersRCV003869028
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)	SNV Germline	Chr18:23534466	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter	CA401790905	rs_2511183420	1 SubmittersRCV003877918
NM_000271.5(NPC1):c.955G>T (p.Gly319Ter)	SNV Germline	Chr18:23557117	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter		rs_1454083299	1 SubmittersRCV004577142
NM_000271.5(NPC1):c.1189C>T (p.Gln397Ter)	SNV Germline	Chr18:23556380	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter		rs_1478525243	1 SubmittersRCV004585182
NM_000271.5(NPC1):c.1619C>G (p.Pro540Arg)	SNV Germline	Chr18:23551662	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter		rs_1300893995	1 SubmittersRCV004594867
NM_000271.5(NPC1):c.1747T>G (p.Trp583Gly)	SNV Germline	Chr18:23548016	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV004784916
NM_000271.5(NPC1):c.881+2T>C	SNV Germline	Chr18:23560229	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV006514363
NM_000271.5(NPC1):c.188G>C (p.Cys63Ser)	SNV Germline	Chr18:23572173	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005114624
NM_000271.5(NPC1):c.1269C>A (p.Tyr423Ter)	SNV Germline	Chr18:23556300	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005122042
NM_000271.5(NPC1):c.1843C>G (p.Arg615Gly)	SNV Germline	Chr18:23545064	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005165398
NM_000271.5(NPC1):c.2498G>A (p.Trp833Ter)	SNV Germline	Chr18:23541084	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005203450
NM_000271.5(NPC1):c.1588C>T (p.His530Tyr)	SNV Germline	Chr18:23551693	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005252464
NM_000271.5(NPC1):c.2620G>T (p.Asp874Tyr)	SNV Germline	Chr18:23539986	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005253556
NM_000271.5(NPC1):c.467T>A (p.Met156Lys)	SNV Germline	Chr18:23561524	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005604852
NM_000271.5(NPC1):c.2911+1G>A	SNV Germline	Chr18:23539354	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			2 SubmittersRCV005609240
NM_000271.5(NPC1):c.873G>A (p.Trp291Ter)	SNV Germline	Chr18:23560239	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided			1 SubmittersRCV005609258
NM_000271.5(NPC1):c.2826G>T (p.Trp942Cys)	SNV Germline	Chr18:23539440	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided			1 SubmittersRCV005609268
NM_000271.5(NPC1):c.2071C>T (p.Pro691Ser)	SNV Germline	Chr18:23544403	Likely pathogenic	Niemann-Pick disease, type C1	No Assertion Criteria Provided			1 SubmittersRCV005609313
NM_000271.5(NPC1):c.3622G>T (p.Gly1208Ter)	SNV Germline	Chr18:23533487	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005636570
NM_000271.5(NPC1):c.1326+1G>T	SNV Unknown	Chr18:23556242	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV005637761
NM_000271.5(NPC1):c.3718G>C (p.Gly1240Arg)	SNV Germline	Chr18:23533391	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV006510170
NM_000271.5(NPC1):c.2287T>C (p.Phe763Leu)	SNV Germline	Chr18:23541392	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV006510171
NM_000271.5(NPC1):c.497C>T (p.Pro166Leu)	SNV Germline	Chr18:23561494	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV006510177
NM_000271.5(NPC1):c.1326+1G>A	SNV Germline	Chr18:23556242	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV006539560
NM_000271.5(NPC1):c.1643G>A (p.Gly548Glu)	SNV Germline	Chr18:23551638	Pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV006619217
NM_000271.5(NPC1):c.1402T>C (p.Cys468Arg)	SNV Germline	Chr18:23554909	Likely pathogenic	Niemann-Pick disease, type C1	Criteria Provided Single Submitter			1 SubmittersRCV006619218

NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro)

SNV
Germline

Chr18:23539823

Pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA252496

rs_28940897

1 SubmittersRCV000003091

NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)

SNV
Germline

Chr18:23536811

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Conflicting Classifications

CA242024

rs_28942104

10 SubmittersRCV000003092 RCV000176149 RCV000781670 RCV005627332

NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)

SNV
Germline

Chr18:23535479

Pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252497

rs_28942105

6 SubmittersRCV000003093 RCV003114174 RCV003480016

NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)

SNV
Germline

Chr18:23538609

Conflicting classifications of pathogenicity

Niemann-Pick disease, type D
Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Conflicting Classifications

CA115895

rs_80358254

14 SubmittersRCV000003094 RCV000020230 RCV000723413 RCV004799729

NM_000271.5(NPC1):c.2665G>A (p.Val889Met)

SNV
Germline

Chr18:23539941

Pathogenic

Niemann-Pick disease, type C1, adult form

No Assertion Criteria Provided

CA115896

rs_120074130

1 SubmittersRCV000003096

NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys)

SNV
Germline

Chr18:23535683

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1, juvenile form
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA115897

rs_28942106

3 SubmittersRCV000003098 RCV001056811

NM_000271.5(NPC1):c.3639G>C (p.Leu1213Phe)

SNV
Germline

Chr18:23533470

Likely pathogenic

Niemann-Pick disease, type C1, juvenile form
Niemann-Pick disease, type C

Criteria Provided
Single Submitter

CA115898

rs_120074131

2 SubmittersRCV000003099 RCV006456596

NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)

SNV
Germline

Chr18:23538564

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C
6 conditions
NPC1-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA340032

rs_80358257

27 SubmittersRCV000003100 RCV000254671 RCV000321958 RCV000415371 RCV003952339 RCV002512691

NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)

SNV
Germline

Chr18:23536736

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C
Inborn genetic diseases
Sphingomyelin/cholesterol lipidosis
NPC1-related disorder
Lysosomal storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA340033

rs_80358259

27 SubmittersRCV000003101 RCV000254672 RCV000587869 RCV000624446 RCV003335012 RCV003964790 RCV006252549

NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)

SNV
Germline

Chr18:23539393

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA252498

rs_120074132

4 SubmittersRCV000003102

NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)

SNV
Germline

Chr18:23538609

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA340034

rs_80358254

13 SubmittersRCV000003103 RCV000489250 RCV000590044

NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)

SNV
Germline

Chr18:23556436

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA252499

rs_120074134

5 SubmittersRCV000003104 RCV003125828 RCV004585982

NM_000271.5(NPC1):c.2848G>A (p.Val950Met)

SNV
Germline

Chr18:23539418

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
NPC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281534

rs_120074135

11 SubmittersRCV000003105 RCV000212760 RCV004748493

NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)

SNV
Germline

Chr18:23536814

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220563

rs_28942107

6 SubmittersRCV000003106 RCV000790787

NM_000271.5(NPC1):c.3591+1G>A

SNV
Germline

Chr18:23534445

Pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA252500

rs_786200877

5 SubmittersRCV000003107 RCV001193398

NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)

SNV
Germline

Chr18:23561461

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA340035

rs_80358252

9 SubmittersRCV000003108 RCV000730873 RCV000623140

NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)

SNV
Germline

Chr18:23538651

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA252501

rs_28942108

9 SubmittersRCV000003110 RCV000413627 RCV004017222

NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)

SNV
Germline

Chr18:23568949

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA252503

rs_120074136

3 SubmittersRCV000003112 RCV002509143

NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)

SNV
Germline

Chr14:74484420

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C2
Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA254414

rs_104894458

6 SubmittersRCV000009007 RCV001528117 RCV005406732

NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)

SNV
Germline

Chr18:23541355

Pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
NPC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341662

rs_80358253

5 SubmittersRCV000020226 RCV004700260 RCV004748530

NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)

SNV
Germline

Chr18:23538609

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341663

rs_80358254

6 SubmittersRCV000020229 RCV000413372

NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)

SNV
Germline

Chr18:23536758

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA341664

rs_80358258

4 SubmittersRCV000020231 RCV004783727 RCV004586017

NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)

SNV
Germline

Chr18:23560403

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified
Condition: not provided
Nasopharyngeal carcinoma

Criteria Provided
Conflicting Classifications

CA145972

rs_80358251

15 SubmittersRCV000020234 RCV000078486 RCV000675580 RCV003638614

NM_000271.5(NPC1):c.1947+8G>C

SNV
Germline

Chr18:23544952

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA220559

rs_66620415

5 SubmittersRCV000078471 RCV000528609

NM_000271.5(NPC1):c.2862G>A (p.Ser954=)

SNV
Germline

Chr18:23539404

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220561

rs_373517774

4 SubmittersRCV000078476 RCV001335213 RCV004639137

NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)

SNV
Germline

Chr18:23536720

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type C1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220564

rs_145145840

11 SubmittersRCV000251909 RCV000610648 RCV000723515 RCV002321571

NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)

SNV
Germline

Chr18:23535615

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA145962

rs_151125564

10 SubmittersRCV000078480 RCV000675557 RCV001082185 RCV002321572

NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)

SNV
Germline

Chr18:23535603

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type C1
Condition: not provided
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA145964

rs_34226296

12 SubmittersRCV000078481 RCV000674624 RCV000767035 RCV003935016

NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)

SNV
Germline

Chr18:23560447

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Niemann-Pick disease, type C1
Inborn genetic diseases
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA220566

rs_55680026

13 SubmittersRCV000078485 RCV000254118 RCV000509165 RCV002514379 RCV003891533

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
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA221151

rs_398123478

14 SubmittersRCV000179326 RCV000700954 RCV000984309 RCV000984308 RCV001248882 RCV002251966 RCV005644517

NM_000271.5(NPC1):c.1502A>T (p.Asp501Val)

SNV
Germline

Chr18:23554809

Pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA269817

rs_483352885

1 SubmittersRCV000119326

NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)

SNV
Germline

Chr18:23554758

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA269819

rs_483352886

10 SubmittersRCV000119327 RCV000725736 RCV001804847

NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly)

SNV
Germline

Chr18:23545075

Pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA269821

rs_483352887

1 SubmittersRCV000119329

NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr)

SNV
Germline

Chr18:23544420

Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Single Submitter

CA269823

rs_483352888

2 SubmittersRCV000119330 RCV004689613

NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter)

SNV
Germline

Chr18:23544346

Pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA269825

rs_483352889

1 SubmittersRCV000119331

NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr)

SNV
Germline

Chr18:23543523

Pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA269827

rs_483352890

1 SubmittersRCV000119332

NM_000271.5(NPC1):c.2366G>A (p.Arg789His)

SNV
Germline

Chr18:23541313

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA269831

rs_483352891

4 SubmittersRCV000119335 RCV003230407

NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)

SNV
Germline

Chr18:23535681

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA297015

rs_374526072

3 SubmittersRCV000671618

NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)

SNV
Germline

Chr18:23539405

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C
NPC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA297014

rs_543206298

14 SubmittersRCV000158972 RCV000254670 RCV001193400 RCV003407592

NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)

SNV
Germline

Chr18:23539829

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA297012

rs_730880963

3 SubmittersRCV001251128 RCV002223799

NM_000271.5(NPC1):c.1937G>A (p.Arg646His)

SNV
Germline

Chr18:23544970

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA297003

rs_112387560

6 SubmittersRCV000729578 RCV001416117 RCV003407591 RCV004586579 RCV005372252

NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)

SNV
Germline

Chr18:23551653

Pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA297011

rs_369368181

6 SubmittersRCV000158970 RCV000610038 RCV005638451

NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)

SNV
Germline

Chr18:23561444

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
not specified
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA297001

rs_111256741

7 SubmittersRCV000329957 RCV000765409 RCV002281970 RCV003937472

NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)

SNV
Germline

Chr18:23533495

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C
Abnormality of metabolism/homeostasis

Criteria Provided
Multiple Submitters
No Conflicts

CA273905

rs_758902805

8 SubmittersRCV000169061 RCV000255516 RCV001804899 RCV001814078

NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)

SNV
Germline

Chr18:23534480

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA274457

rs_200444084

8 SubmittersRCV000169602 RCV000479463 RCV001193399

NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)

SNV
Germline

Chr18:23536743

Pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA273933

rs_786204455

5 SubmittersRCV000169092 RCV001201288

NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)

SNV
Germline

Chr18:23539373

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274181

rs_786204586

3 SubmittersRCV000169331 RCV001092827

NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)

SNV
Germline

Chr18:23539447

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA273881

rs_143124972

7 SubmittersRCV000169010 RCV000728524 RCV000781669

NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)

SNV
Germline

Chr18:23539465

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274396

rs_786204714

4 SubmittersRCV000169530 RCV005425783

NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter)

SNV
Unknown

Chr18:23539842

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA274292

rs_786204641

1 SubmittersRCV000169423

NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)

SNV
Germline

Chr18:23539845

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C
NPC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274036

rs_786204512

7 SubmittersRCV000169199 RCV001567278 RCV002271441 RCV003398865

NM_000271.5(NPC1):c.1947+2T>G

SNV
Unknown

Chr18:23544958

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA274468

rs_764472245

3 SubmittersRCV000169611

NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)

SNV
Germline

Chr18:23556358

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA273968

rs_139751448

8 SubmittersRCV000169124 RCV000255152 RCV000588149

NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)

SNV
Germline

Chr18:23539985

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Condition: not provided
Inborn genetic diseases
NPC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275049

rs_372030650

16 SubmittersRCV000175270 RCV000606384 RCV000724467 RCV002516669 RCV003937576

NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)

SNV
Germline

Chr18:23534544

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Conflicting Classifications

CA242284

rs_748862167

5 SubmittersRCV000176359 RCV000704311 RCV004586596

NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)

SNV
Germline

Chr18:23534509

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242285

rs_150602021

5 SubmittersRCV000176360 RCV001078845 RCV003895190 RCV004639162

NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)

SNV
Germline

Chr18:23556427

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Single Submitter

CA275420

rs_794727897

2 SubmittersRCV000180120 RCV000724228

NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)

SNV
Germline

Chr18:23534476

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type C1
Condition: not provided
Inborn genetic diseases
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA206003

rs_55724504

12 SubmittersRCV000192877 RCV000532367 RCV000675555 RCV002453707 RCV003891763

NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)

SNV
Germline

Chr18:23543487

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA353802

rs_777286835

5 SubmittersRCV000666499

NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala)

SNV
Germline

Chr18:23536791

Pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA10581224

rs_876661319

1 SubmittersRCV000223886

NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)

SNV
Germline

Chr18:23539384

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8912938

rs_34084984

7 SubmittersRCV000239155 RCV000671674 RCV006439867

NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)

SNV
Germline

Chr18:23536701

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912839

rs_141440861

11 SubmittersRCV000243260 RCV000697615 RCV001081451 RCV003891841

NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)

SNV
Germline

Chr18:23556481

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913537

rs_774588125

3 SubmittersRCV000253256 RCV001764229 RCV002518572

NM_000271.5(NPC1):c.66A>G (p.Ser22=)

SNV
Germline

Chr18:23573566

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8913830

rs_144415945

11 SubmittersRCV000245310 RCV000675584 RCV001081906 RCV002365258

NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)

SNV
Germline

Chr18:23545088

Pathogenic

Condition: not provided
Niemann-Pick disease, type C
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10588676

rs_377130051

6 SubmittersRCV000255864 RCV000589541 RCV001273179 RCV001265830

NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)

SNV
Germline

Chr18:23539878

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA8912990

rs_768999208

5 SubmittersRCV000258915 RCV000674176 RCV002252074

NM_000271.5(NPC1):c.1547G>A (p.Cys516Tyr)

SNV
Germline

Chr18:23554764

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA10602695

rs_751951695

3 SubmittersRCV000258907 RCV003500525 RCV005431582

NM_000271.5(NPC1):c.3246-2A>G

SNV
Germline

Chr18:23535702

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10575444

rs_886042268

6 SubmittersRCV000295010 RCV000413103

NM_000271.5(NPC1):c.1947+5G>C

SNV
Germline

Chr18:23544955

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1
Niemann-Pick disease, type C
NPC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8913337

rs_770321568

6 SubmittersRCV000357223 RCV000670237 RCV002222467 RCV003391029

NM_000271.5(NPC1):c.3717C>T (p.His1239=)

SNV
Germline

Chr18:23533392

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912680

rs_34624018

9 SubmittersRCV000305924 RCV000544982 RCV002347990 RCV003920049

NM_000271.5(NPC1):c.2712G>T (p.Gly904=)

SNV
Germline

Chr18:23539894

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8912993

rs_560122245

2 SubmittersRCV000346840 RCV003605619

NM_000271.5(NPC1):c.57+7G>A

SNV
Germline

Chr18:23586280

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA10604836

rs_886042901

3 SubmittersRCV000354889 RCV001463718 RCV003967737

NM_000271.5(NPC1):c.834G>A (p.Ala278=)

SNV
Germline

Chr18:23560278

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913630

rs_146105340

2 SubmittersRCV000279170 RCV002059200

NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)

SNV
Germline

Chr18:23534481

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8912734

rs_145297180

6 SubmittersRCV000278598 RCV001859651 RCV002519245 RCV003226275

NM_000271.5(NPC1):c.2257G>A (p.Val753Met)

SNV
Germline

Chr18:23541422

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913159

rs_146874573

6 SubmittersRCV000329383 RCV000765406 RCV004748695

NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)

SNV
Germline

Chr18:23539394

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C1, juvenile form
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8912940

rs_759826138

5 SubmittersRCV000279978 RCV000726075 RCV001267680 RCV001731564

NM_000271.5(NPC1):c.2246-5G>A

SNV
Germline

Chr18:23541438

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913165

rs_77289650

2 SubmittersRCV000278933 RCV001080019

NM_000271.5(NPC1):c.1011G>T (p.Arg337=)

SNV
Germline

Chr18:23556558

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
not specified
NPC1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8913554

rs_147795644

11 SubmittersRCV000375872 RCV001081725 RCV001699423 RCV003949911 RCV004021243

NM_000271.5(NPC1):c.372A>T (p.Thr124=)

SNV
Germline

Chr18:23568914

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913752

rs_748125983

2 SubmittersRCV000308667 RCV001496367

NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)

SNV
Germline

Chr18:23536689

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606393

rs_750095738

5 SubmittersRCV000286951 RCV000726304

NM_000271.5(NPC1):c.1542G>A (p.Leu514=)

SNV
Germline

Chr18:23554769

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913451

rs_371076898

3 SubmittersRCV000362128 RCV001089180 RCV003957509

NM_000271.5(NPC1):c.2677C>T (p.Leu893=)

SNV
Germline

Chr18:23539929

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA10606616

rs_756756960

2 SubmittersRCV000364955 RCV002059276

NM_000271.5(NPC1):c.1224C>T (p.Leu408=)

SNV
Germline

Chr18:23556345

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913514

rs_759901793

2 SubmittersRCV000276050 RCV002059277

NM_000271.5(NPC1):c.631+7A>G

SNV
Germline

Chr18:23561353

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA10606922

rs_886044570

3 SubmittersRCV000316567 RCV001462724

NM_006432.5(NPC2):c.363+7G>A

SNV
Germline

Chr14:74484408

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7268143

rs_200463204

8 SubmittersRCV000375313 RCV000611646 RCV000593664 RCV001579721

NM_000271.5(NPC1):c.2269G>A (p.Val757Met)

SNV
Germline

Chr18:23541410

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8913156

rs_777156729

4 SubmittersRCV000548777 RCV000594494

NM_000271.5(NPC1):c.1947+12G>T

SNV
Germline

Chr18:23544948

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA10641148

rs_886053666

3 SubmittersRCV000388731 RCV003897743

NM_006432.5(NPC2):c.*295C>G

SNV
Germline

Chr14:74479979

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10646030

rs_113587712

2 SubmittersRCV000323864 RCV003401321

NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)

SNV
Germline

Chr18:23538572

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided
NPC1-related disorder
Niemann-Pick disease, type C

Criteria Provided
Conflicting Classifications

CA8912897

rs_150334966

14 SubmittersRCV000675137 RCV000414264 RCV003922387 RCV005418080

NM_000271.5(NPC1):c.2820G>A (p.Ser940=)

SNV
Germline

Chr18:23539446

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8912947

rs_754664476

4 SubmittersRCV000280883 RCV000591238 RCV006263870

NM_000271.5(NPC1):c.2304C>T (p.Val768=)

SNV
Germline

Chr18:23541375

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8913148

rs_183935795

3 SubmittersRCV000358907 RCV000598057

NM_000271.5(NPC1):c.1947+13G>T

SNV
Germline

Chr18:23544947

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
NPC1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8913306

rs_568769965

4 SubmittersRCV000274362 RCV004748733 RCV004584669

NM_000271.5(NPC1):c.699G>A (p.Glu233=)

SNV
Germline

Chr18:23560413

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913662

rs_769468514

2 SubmittersRCV000354822

NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)

SNV
Germline

Chr18:23572128

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913786

rs_373274825

5 SubmittersRCV000732048 RCV000811491

NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)

SNV
Germline

Chr18:23538571

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Malignant tumor of esophagus
Papillary renal cell carcinoma type 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8912896

rs_182413311

5 SubmittersRCV000729382 RCV001087791 RCV005894739 RCV005894738 RCV005894737

NM_000271.5(NPC1):c.2775C>T (p.Asn925=)

SNV
Germline

Chr18:23539831

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8912982

rs_147419225

4 SubmittersRCV000936210 RCV003409516

NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)

SNV
Germline

Chr18:23541081

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified
Condition: not provided
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913084

rs_373435883

8 SubmittersRCV000346696 RCV000595804 RCV003480602 RCV003912362

NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)

SNV
Germline

Chr18:23535625

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912799

rs_376210355

3 SubmittersRCV000935932 RCV003897742

NM_000271.5(NPC1):c.3312G>A (p.Val1104=)

SNV
Germline

Chr18:23535634

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8912801

rs_746476066

3 SubmittersRCV000668379

NM_000271.5(NPC1):c.2973G>A (p.Gln991=)

SNV
Germline

Chr18:23538610

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8912902

rs_201118975

6 SubmittersRCV000316113 RCV001535043 RCV002436178

NM_000271.5(NPC1):c.2832C>T (p.Asp944=)

SNV
Germline

Chr18:23539434

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8912945

rs_780019300

2 SubmittersRCV000373056

NM_000271.5(NPC1):c.2373+14A>G

SNV
Germline

Chr18:23541292

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913133

rs_771523995

2 SubmittersRCV000405595

NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)

SNV
Germline

Chr18:23534471

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8912726

rs_369098773

4 SubmittersRCV000412462 RCV004525924

NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)

SNV
Germline

Chr18:23536862

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA8912862

rs_781261962

4 SubmittersRCV000412438

NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)

SNV
Germline

Chr18:23541108

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041913

rs_550562774

9 SubmittersRCV000410702 RCV000733999

NM_000271.5(NPC1):c.1990G>A (p.Val664Met)

SNV
Germline

Chr18:23544484

Pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
NPC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8913242

rs_376213990

6 SubmittersRCV000411001 RCV002469141 RCV003409564

NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter)

SNV
Germline

Chr18:23554972

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA16041916

rs_1057517077

2 SubmittersRCV000411431

NM_000271.5(NPC1):c.1327-1G>C

SNV
Unknown

Chr18:23554985

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA16041917

rs_1057516813

1 SubmittersRCV000409528

NM_000271.5(NPC1):c.956-1G>A

SNV
Germline

Chr18:23556614

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA16041919

rs_756853895

2 SubmittersRCV000410576

NM_000271.5(NPC1):c.500C>G (p.Ser167Ter)

SNV
Unknown

Chr18:23561491

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA16041922

rs_752409181

1 SubmittersRCV000410413

NM_000271.5(NPC1):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr18:23568853

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA16041923

rs_1057516749

3 SubmittersRCV000411904

NM_000271.5(NPC1):c.1A>G (p.Met1Val)

SNV
Unknown

Chr18:23586343

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA16041926

rs_1057517005

1 SubmittersRCV000412029

NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)

SNV
Germline

Chr18:23535521

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA8912782

rs_778878523

6 SubmittersRCV000414430 RCV000665209

NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)

SNV
Germline

Chr18:23543499

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8913187

rs_757475924

6 SubmittersRCV000414597 RCV000667438 RCV003486823

NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)

SNV
Germline

Chr18:23539417

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA16043142

rs_1057517978

6 SubmittersRCV000414206 RCV000779241 RCV005238965

NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)

SNV
Germline

Chr18:23534477

Conflicting classifications of pathogenicity

Dystonic disorder
Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA16043538

rs_113371321

3 SubmittersRCV000414757 RCV001861450 RCV005418103

NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)

SNV
Germline

Chr18:23554890

Pathogenic

6 conditions
Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8913468

rs_372445155

4 SubmittersRCV000415065 RCV000823177 RCV004591143

NM_000271.5(NPC1):c.57+4A>G

SNV
Germline

Chr18:23586283

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA16043878

rs_1057519229

3 SubmittersRCV000416076 RCV000671661

NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter)

SNV
Germline

Chr18:23539893

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA16616710

rs_917070773

2 SubmittersRCV000474466

NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)

SNV
Germline

Chr18:23556271

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA16620669

rs_1064793791

2 SubmittersRCV000479598 RCV002470869

NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr18:23560391

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA16620670

rs_1064795718

3 SubmittersRCV000478255 RCV000694249

NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu)

SNV
Germline

Chr18:23556268

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA297069387

rs_774333145

6 SubmittersRCV000494559 RCV000670030

NM_000271.5(NPC1):c.881+1G>T

SNV
Germline

Chr18:23560230

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401780708

rs_1555638409

1 SubmittersRCV000502716

NM_000271.5(NPC1):c.181-4A>C

SNV
Germline

Chr18:23572184

Conflicting classifications of pathogenicity

not specified
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8913796

rs_374571310

3 SubmittersRCV000507299 RCV001414549 RCV002524923

NM_000271.5(NPC1):c.410C>T (p.Thr137Met)

SNV
Germline

Chr18:23568876

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Conflicting Classifications

CA8913749

rs_372947142

6 SubmittersRCV000522597 RCV000674009 RCV003226316

NM_000271.5(NPC1):c.2912-2A>C

SNV
Germline

Chr18:23538673

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792353

rs_1555632994

1 SubmittersRCV000525694

NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)

SNV
Germline

Chr18:23539936

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA8913003

rs_780592540

3 SubmittersRCV000588008 RCV000665306

NM_000271.5(NPC1):c.1947+10G>T

SNV
Germline

Chr18:23544950

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
not specified
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA8913322

rs_71534236

5 SubmittersRCV000585968 RCV000765407 RCV005240254 RCV005898603

NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr18:23556350

Pathogenic

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA8913516

rs_775629081

2 SubmittersRCV000598343 RCV001237106

NM_000271.5(NPC1):c.3432C>G (p.Leu1144=)

SNV
Germline

Chr18:23535514

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8912781

rs_191526202

2 SubmittersRCV000597552 RCV002062029

NM_000271.5(NPC1):c.3041+10G>A

SNV
Germline

Chr18:23538532

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA297080637

rs_965937353

2 SubmittersRCV000593371 RCV002062033

NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)

SNV
Germline

Chr18:23540528

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913061

rs_190298665

7 SubmittersRCV000596349 RCV000649025 RCV003952965

NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)

SNV
Germline

Chr18:23541154

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913105

rs_145362908

10 SubmittersRCV000598092 RCV000688651 RCV003935608

NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)

SNV
Germline

Chr18:23534478

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8912731

rs_762517273

4 SubmittersRCV000591453 RCV000765404

NM_000271.5(NPC1):c.1402T>G (p.Cys468Gly)

SNV
Germline

Chr18:23554909

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA401776251

rs_1555636685

2 SubmittersRCV000595856 RCV002531052

NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)

SNV
Germline

Chr18:23556359

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401777639

rs_1298238512

8 SubmittersRCV000593107 RCV000727099 RCV005418233

NM_000271.5(NPC1):c.1431G>A (p.Thr477=)

SNV
Germline

Chr18:23554880

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913465

rs_375307057

7 SubmittersRCV000596422 RCV001086155 RCV003302915 RCV003915718

NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)

SNV
Germline

Chr18:23568984

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Conflicting Classifications

CA8913762

rs_548191894

4 SubmittersRCV000597242 RCV001377830 RCV006459641

NM_000271.5(NPC1):c.1671C>T (p.Asn557=)

SNV
Germline

Chr18:23548092

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913396

rs_772427096

2 SubmittersRCV000591183 RCV001487223

NM_000271.5(NPC1):c.3492C>T (p.Ser1164=)

SNV
Germline

Chr18:23534545

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8912746

rs_371160947

2 SubmittersRCV000591975 RCV001086674

NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)

SNV
Germline

Chr18:23551720

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8913425

rs_138184115

8 SubmittersRCV000595377 RCV000671781 RCV002532557

NM_000271.5(NPC1):c.1348A>G (p.Ile450Val)

SNV
Germline

Chr18:23554963

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8913479

rs_141892620

5 SubmittersRCV000595669 RCV001435395 RCV004955697

NM_000271.5(NPC1):c.2604+1G>A

SNV
Germline

Chr18:23540447

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401793063

rs_1555633454

2 SubmittersRCV000591979 RCV000727341

NM_000271.5(NPC1):c.1819C>A (p.Arg607=)

SNV
Germline

Chr18:23545088

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913364

rs_377130051

3 SubmittersRCV000595497 RCV001088123

NM_000271.5(NPC1):c.546C>T (p.Asp182=)

SNV
Germline

Chr18:23561445

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8913709

rs_572499557

3 SubmittersRCV000595036 RCV001496209 RCV005443112

NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)

SNV
Germline

Chr18:23534534

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401791045

rs_1555631998

6 SubmittersRCV000597778 RCV000727481

NM_000271.5(NPC1):c.2449T>C (p.Leu817=)

SNV
Germline

Chr18:23541133

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA297082118

rs_376980859

2 SubmittersRCV000595952 RCV002065184

NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)

SNV
Germline

Chr18:23534479

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912732

rs_141659629

4 SubmittersRCV000595442 RCV000765405 RCV004722965

NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)

SNV
Germline

Chr18:23533495

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401790799

rs_758902805

2 SubmittersRCV000603315 RCV000815386

NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter)

SNV
Germline

Chr18:23556398

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401777922

rs_1555637139

1 SubmittersRCV000625917

NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)

SNV
Germline

Chr18:23539433

Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401792539

rs_1428599096

3 SubmittersRCV000649023 RCV002509492

NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)

SNV
Germline

Chr18:23556499

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401778535

rs_1555637232

3 SubmittersRCV000649024

NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)

SNV
Germline

Chr18:23554875

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA401775700

rs_1555636659

5 SubmittersRCV000649020 RCV000728564 RCV003243238

NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)

SNV
Germline

Chr18:23535665

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
NPC1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA401791534

rs_1338658857

6 SubmittersRCV000660606 RCV003392508 RCV005240416

NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)

SNV
Germline

Chr18:23539981

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793002

rs_1555633361

1 SubmittersRCV000660448

NM_000271.5(NPC1):c.3754+3A>C

SNV
Germline

Chr18:23533352

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA628677320

rs_1208252513

4 SubmittersRCV000671124 RCV002531271

NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)

SNV
Germline

Chr18:23533475

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8912687

rs_753419933

5 SubmittersRCV000675013 RCV003155279 RCV005627383

NM_000271.5(NPC1):c.3592-1G>C

SNV
Unknown

Chr18:23533518

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401790849

rs_1555631653

1 SubmittersRCV000665336

NM_000271.5(NPC1):c.3591+2T>C

SNV
Unknown

Chr18:23534444

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790856

rs_1555631888

2 SubmittersRCV000666631

NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)

SNV
Germline

Chr18:23535687

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA297079275

rs_746715353

4 SubmittersRCV000670900 RCV003330892 RCV004588097

NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)

SNV
Germline

Chr18:23536784

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA297079794

rs_893564568

4 SubmittersRCV000665689 RCV001844211

NM_000271.5(NPC1):c.2597T>C (p.Met866Thr)

SNV
Germline

Chr18:23540455

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793082

rs_1181604094

2 SubmittersRCV000672250

NM_000271.5(NPC1):c.3754+1G>C

SNV
Unknown

Chr18:23533354

Likely pathogenic

Niemann-Pick disease, type C1
Ovarian serous cystadenocarcinoma

No Assertion Criteria Provided

CA401790487

rs_1555631571

2 SubmittersRCV000673885 RCV005901505

NM_000271.5(NPC1):c.1948-2A>T

SNV
Unknown

Chr18:23544528

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401771881

rs_1555634513

1 SubmittersRCV000669985

NM_000271.5(NPC1):c.1947+2T>A

SNV
Unknown

Chr18:23544958

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401772130

rs_764472245

1 SubmittersRCV000671319

NM_000271.5(NPC1):c.1947+1G>A

SNV
Unknown

Chr18:23544959

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401772132

rs_1555634690

1 SubmittersRCV000668796

NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)

SNV
Germline

Chr18:23534537

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401791052

rs_1555632003

4 SubmittersRCV000673110 RCV003230572

NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser)

SNV
Germline

Chr18:23554785

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401775364

rs_1190383931

3 SubmittersRCV000669550 RCV005901470

NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)

SNV
Germline

Chr18:23539826

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA8912979

rs_753768576

7 SubmittersRCV000668027 RCV004721537 RCV004689840 RCV005443134

NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)

SNV
Germline

Chr18:23545006

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA297060739

rs_202140203

4 SubmittersRCV000669319 RCV002307585

NM_000271.5(NPC1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr18:23586341

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA402041566

rs_1555645630

2 SubmittersRCV000666536

NM_000271.5(NPC1):c.3754+1G>A

SNV
Unknown

Chr18:23533354

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401790488

rs_1555631571

1 SubmittersRCV000665907

NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)

SNV
Germline

Chr18:23533364

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401790512

rs_1415921261

3 SubmittersRCV000671310 RCV005901493

NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)

SNV
Germline

Chr18:23539363

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8912937

rs_773767253

6 SubmittersRCV000670723 RCV002222596 RCV005638523

NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu)

SNV
Germline

Chr18:23544402

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401771363

rs_1555634422

4 SubmittersRCV000668135 RCV003128721

NM_000271.5(NPC1):c.1554-1009G>A

SNV
Germline

Chr18:23552736

Pathogenic

Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA297066458

rs_1055204017

5 SubmittersRCV000669325 RCV003420185

NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)

SNV
Germline

Chr18:23554960

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Conflicting Classifications

CA8913476

rs_781065429

7 SubmittersRCV000670724 RCV000675577 RCV002282310

NM_000271.5(NPC1):c.58-2A>T

SNV
Unknown

Chr18:23573576

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA402041456

rs_1555642347

1 SubmittersRCV000665968

NM_000271.5(NPC1):c.3754+1G>T

SNV
Unknown

Chr18:23533354

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401790486

rs_1555631571

1 SubmittersRCV000667287

NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile)

SNV
Germline

Chr18:23535479

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791138

rs_28942105

2 SubmittersRCV000668091

NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter)

SNV
Unknown

Chr18:23535485

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401791151

rs_1555632182

1 SubmittersRCV000673297

NM_000271.5(NPC1):c.3042-1G>A

SNV
Germline

Chr18:23536877

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792060

rs_771806960

3 SubmittersRCV000667939

NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)

SNV
Germline

Chr18:23539424

Pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401792513

rs_1261939149

4 SubmittersRCV000668346 RCV003479193

NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys)

SNV
Germline

Chr18:23541314

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401793596

rs_1555633697

5 SubmittersRCV000670704 RCV005870755 RCV005901483

NM_000271.5(NPC1):c.1948-1G>A

SNV
Unknown

Chr18:23544527

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401771880

rs_1555634508

1 SubmittersRCV000673143

NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp)

SNV
Germline

Chr18:23545071

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401772950

rs_1555634739

2 SubmittersRCV000671227

NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)

SNV
Germline

Chr18:23554759

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8913447

rs_377515417

6 SubmittersRCV000665750 RCV002222586

NM_000271.5(NPC1):c.1327-1G>A

SNV
Unknown

Chr18:23554985

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

CA401776821

rs_1057516813

1 SubmittersRCV000670276

NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)

SNV
Germline

Chr18:23556413

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401778011

rs_1192824648

3 SubmittersRCV000668933 RCV004768532

NM_000271.5(NPC1):c.631+2T>C

SNV
Germline

Chr18:23561358

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401782014

rs_1555638833

2 SubmittersRCV000673762

NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro)

SNV
Germline

Chr18:23556346

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401777565

rs_1567965313

4 SubmittersRCV000680050 RCV003226370 RCV003325513

NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)

SNV
Germline

Chr18:23568980

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401785903

rs_751249367

6 SubmittersRCV000702851 RCV001531279

NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)

SNV
Germline

Chr18:23545064

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA8913361

rs_745777805

4 SubmittersRCV000685980 RCV001193402 RCV001265829

NM_000271.5(NPC1):c.350A>G (p.Gln117Arg)

SNV
Germline

Chr18:23568936

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401785525

rs_1567977251

1 SubmittersRCV000705147

NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)

SNV
Germline

Chr18:23535495

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8912773

rs_765729815

6 SubmittersRCV000689227 RCV000734932 RCV005240469

NM_000271.5(NPC1):c.180G>T (p.Gln60His)

SNV
Germline

Chr18:23573452

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder
Inborn genetic diseases
Melanoma
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA8913815

rs_145666943

12 SubmittersRCV000728354 RCV001125610 RCV004748920 RCV005372421 RCV005901877 RCV005901876

NM_000271.5(NPC1):c.3393C>T (p.Ile1131=)

SNV
Germline

Chr18:23535553

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912785

rs_777356809

3 SubmittersRCV000728454 RCV001491430 RCV004748922

NM_000271.5(NPC1):c.90G>A (p.Glu30=)

SNV
Germline

Chr18:23573542

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA503325959

rs_1273070261

2 SubmittersRCV000728476 RCV001449400

NM_000271.5(NPC1):c.3478-7A>C

SNV
Germline

Chr18:23534566

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912749

rs_767148121

3 SubmittersRCV000728484 RCV002067088 RCV003892603

NM_000271.5(NPC1):c.2292G>A (p.Ala764=)

SNV
Germline

Chr18:23541387

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913150

rs_772565983

6 SubmittersRCV000728641 RCV000990078

NM_000271.5(NPC1):c.1764T>C (p.Ile588=)

SNV
Germline

Chr18:23545143

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA503522102

rs_1380492295

2 SubmittersRCV000728808 RCV002067090

NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)

SNV
Germline

Chr18:23533377

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912675

rs_1621962

4 SubmittersRCV000728885 RCV001078915 RCV003908024

NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser)

SNV
Germline

Chr18:23545141

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA8913368

rs_147021046

3 SubmittersRCV000728946 RCV001054595 RCV006268979

NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)

SNV
Germline

Chr18:23532223

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912631

rs_375797728

4 SubmittersRCV000729182 RCV001086222 RCV003918193

NM_000271.5(NPC1):c.1533G>A (p.Thr511=)

SNV
Germline

Chr18:23554778

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA297068123

rs_778890495

2 SubmittersRCV000729184 RCV001481316

NM_000271.5(NPC1):c.411G>A (p.Thr137=)

SNV
Germline

Chr18:23568875

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913748

rs_756405444

2 SubmittersRCV000729425 RCV002067094

NM_000271.5(NPC1):c.3246-8C>T

SNV
Germline

Chr18:23535708

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8912811

rs_145227129

6 SubmittersRCV000730065 RCV001078914 RCV003965519 RCV004586905

NM_000271.5(NPC1):c.2911+10C>T

SNV
Germline

Chr18:23539345

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8912933

rs_370382673

3 SubmittersRCV000730140 RCV001454222 RCV003953311

NM_000271.5(NPC1):c.684C>T (p.Asp228=)

SNV
Germline

Chr18:23560428

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913667

rs_558452690

2 SubmittersRCV000730765 RCV001438587

NM_000271.5(NPC1):c.1535A>G (p.His512Arg)

SNV
Germline

Chr18:23554776

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA401775303

rs_1567963883

2 SubmittersRCV000731119 RCV002536459

NM_000271.5(NPC1):c.180+8C>T

SNV
Germline

Chr18:23573444

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913812

rs_778096289

3 SubmittersRCV000731159 RCV001466251

NM_000271.5(NPC1):c.273A>G (p.Leu91=)

SNV
Germline

Chr18:23572088

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913781

rs_370718676

2 SubmittersRCV000731432 RCV001431872

NM_000271.5(NPC1):c.471C>T (p.Tyr157=)

SNV
Germline

Chr18:23561520

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913722

rs_145101354

4 SubmittersRCV000731741 RCV001088848 RCV002334411 RCV003918208

NM_000271.5(NPC1):c.2808C>T (p.Gly936=)

SNV
Germline

Chr18:23539458

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA503322582

rs_1567949544

2 SubmittersRCV000731894 RCV001450530

NM_000271.5(NPC1):c.58-4G>A

SNV
Germline

Chr18:23573578

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913832

rs_767683969

2 SubmittersRCV000731949 RCV001461554

NM_000271.5(NPC1):c.1870G>A (p.Val624Ile)

SNV
Germline

Chr18:23545037

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
not specified
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913354

rs_76615690

4 SubmittersRCV000732400 RCV001423801 RCV003230582 RCV004748943

NM_000271.5(NPC1):c.444C>G (p.Val148=)

SNV
Germline

Chr18:23568842

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA503325572

rs_899764342

2 SubmittersRCV000732457 RCV001448000

NM_000271.5(NPC1):c.1521C>T (p.Ala507=)

SNV
Germline

Chr18:23554790

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913455

rs_780100866

3 SubmittersRCV000732498 RCV001452547

NM_000271.5(NPC1):c.1549G>A (p.Val517Ile)

SNV
Germline

Chr18:23554762

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913448

rs_201791992

3 SubmittersRCV000732955 RCV001392755 RCV003396308

NM_000271.5(NPC1):c.2472C>G (p.Ser824=)

SNV
Germline

Chr18:23541110

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA503521870

rs_1567951608

2 SubmittersRCV000733300 RCV001436603

NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)

SNV
Germline

Chr18:23535657

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA297079250

rs_758829443

4 SubmittersRCV000733557 RCV001814228

NM_000271.5(NPC1):c.2514+7G>A

SNV
Germline

Chr18:23541061

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913079

rs_764548800

3 SubmittersRCV000733760 RCV001083770

NM_000271.5(NPC1):c.3300C>T (p.Phe1100=)

SNV
Germline

Chr18:23535646

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA503521758

rs_1567945743

2 SubmittersRCV000733987 RCV002535360

NM_000271.5(NPC1):c.3159C>T (p.Asp1053=)

SNV
Germline

Chr18:23536759

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8912848

rs_201460899

3 SubmittersRCV000734124 RCV001503668 RCV002325451

NM_000271.5(NPC1):c.3489C>T (p.Ile1163=)

SNV
Germline

Chr18:23534548

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA297078702

rs_911696662

3 SubmittersRCV000734600 RCV002535385

NM_000271.5(NPC1):c.3477+2T>C

SNV
Germline

Chr18:23535467

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8912769

rs_772898831

1 SubmittersRCV000814344

NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)

SNV
Germline

Chr18:23556257

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401777070

rs_750292546

2 SubmittersRCV000825537 RCV001858400

NM_006432.5(NPC2):c.273T>C (p.Asp91=)

SNV
Germline

Chr14:74484505

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C2
Niemann-Pick disease, type C1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7268154

rs_151071820

6 SubmittersRCV000887835 RCV001115295 RCV001531810 RCV003307667

NM_000271.5(NPC1):c.1479C>T (p.Ser493=)

SNV
Germline

Chr18:23554832

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913460

rs_148078801

3 SubmittersRCV001127621

NM_000271.5(NPC1):c.2130+10C>G

SNV
Germline

Chr18:23544334

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8913224

rs_776389852

4 SubmittersRCV000931640 RCV006442062

NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)

SNV
Germline

Chr18:23539946

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401792923

rs_1169032037

3 SubmittersRCV000990076

NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)

SNV
Germline

Chr18:23540458

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401793087

rs_1160114136

2 SubmittersRCV000990077

NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)

SNV
Germline

Chr18:23536688

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8912837

rs_534280005

4 SubmittersRCV000996656 RCV001805961 RCV002549945

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

CA5852824

rs_755160837

8 SubmittersRCV001004585 RCV001213865 RCV003447572

NM_000271.5(NPC1):c.2359A>G (p.Ile787Val)

SNV
Germline

Chr18:23541320

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913137

rs_202046984

3 SubmittersRCV001034153 RCV004749587

NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe)

SNV
Germline

Chr18:23534447

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA401790860

rs_1234099104

2 SubmittersRCV001171635

NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg)

SNV
Germline

Chr18:23534530

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791036

rs_2058596611

1 SubmittersRCV001171636

NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)

SNV
Germline

Chr18:23544989

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Single Submitter

CA401772198

rs_2058768195

4 SubmittersRCV001045153 RCV001528817

NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)

SNV
Germline

Chr18:23556404

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Sphingomyelin/cholesterol lipidosis

Criteria Provided
Conflicting Classifications

CA297069514

rs_1053321823

6 SubmittersRCV001070899 RCV003323794 RCV005627407

NM_000271.5(NPC1):c.81G>A (p.Trp27Ter)

SNV
Germline

Chr18:23573551

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA402041395

rs_2059233403

1 SubmittersRCV001040642

NM_000271.5(NPC1):c.180+1G>C

SNV
Germline

Chr18:23573451

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401787298

rs_2059231880

1 SubmittersRCV001040583

NM_000271.5(NPC1):c.346C>T (p.Arg116Ter)

SNV
Germline

Chr18:23568940

Pathogenic

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA8913756

rs_144973225

3 SubmittersRCV001092830 RCV001386168

NM_000271.5(NPC1):c.2614A>G (p.Met872Val)

SNV
Germline

Chr18:23539992

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8913012

rs_769612789

3 SubmittersRCV001127529 RCV004649457

NM_000271.5(NPC1):c.2337C>T (p.Phe779=)

SNV
Germline

Chr18:23541342

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Inborn genetic diseases
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913143

rs_367654655

4 SubmittersRCV001123408 RCV002451331 RCV004749607

NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)

SNV
Germline

Chr18:23548091

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA297062945

rs_201156397

2 SubmittersRCV001127620

NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)

SNV
Germline

Chr18:23554881

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913466

rs_761459069

2 SubmittersRCV001123522

NM_000271.5(NPC1):c.984C>T (p.Ser328=)

SNV
Germline

Chr18:23556585

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
NPC1-related disorder

Criteria Provided
Conflicting Classifications

CA8913559

rs_760861487

3 SubmittersRCV001123524 RCV004749608

NM_000271.5(NPC1):c.962C>T (p.Ala321Val)

SNV
Germline

Chr18:23556607

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8913564

rs_138079168

3 SubmittersRCV001123525 RCV001760089

NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)

SNV
Germline

Chr18:23561481

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA297075319

rs_887908568

3 SubmittersRCV001125609 RCV002348570

NM_000271.5(NPC1):c.2514+15G>A

SNV
Germline

Chr18:23541053

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8913075

rs_765825660

2 SubmittersRCV001127530

NM_000271.5(NPC1):c.1948-11G>A

SNV
Germline

Chr18:23544537

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8913258

rs_371122321

3 SubmittersRCV001125521 RCV001568729

NM_000271.5(NPC1):c.1947+12G>C

SNV
Germline

Chr18:23544948

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA777725109

rs_886053666

2 SubmittersRCV001125522

NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)

SNV
Germline

Chr18:23539466

Pathogenic

Niemann-Pick disease, type C
Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8912953

rs_370721218

5 SubmittersRCV001174732 RCV001383764 RCV001570592

NM_000271.5(NPC1):c.181G>T (p.Glu61Ter)

SNV
Germline

Chr18:23572180

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401786671

rs_2059213874

3 SubmittersRCV001198345 RCV005641980

NM_000271.5(NPC1):c.3562G>T (p.Glu1188Ter)

SNV
Germline

Chr18:23534475

Pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8912728

rs_776701050

2 SubmittersRCV001214280 RCV006269333

NM_000271.5(NPC1):c.3477+1G>A

SNV
Germline

Chr18:23535468

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791115

rs_1405889589

1 SubmittersRCV001224030

NM_000271.5(NPC1):c.1261C>T (p.Gln421Ter)

SNV
Germline

Chr18:23556308

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401777355

rs_2058949363

2 SubmittersRCV001231538

NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)

SNV
Germline

Chr18:23536818

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
NPC1-related disorder
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401791940

rs_2058637844

5 SubmittersRCV001248808 RCV003399019 RCV005236731

NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu)

SNV
Germline

Chr18:23538563

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA8912895

rs_764789542

2 SubmittersRCV001250198

NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr)

SNV
Germline

Chr18:23539998

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793044

rs_2058690179

1 SubmittersRCV001250197

NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter)

SNV
Germline

Chr18:23556472

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401778359

rs_1278305591

1 SubmittersRCV001250196

NM_000271.5(NPC1):c.2795+56C>T

SNV
Germline

Chr18:23539755

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA1139665978

rs_2058685029

1 SubmittersRCV001251158

NM_000271.5(NPC1):c.2130+1G>A

SNV
Germline

Chr18:23544343

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401771243

rs_2058753286

3 SubmittersRCV001261652

NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter)

SNV
Unknown

Chr18:23535673

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791550

rs_1598937493

1 SubmittersRCV001264326

NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)

SNV
Germline

Chr18:23535691

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401791594

rs_774602107

2 SubmittersRCV001264327

NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter)

SNV
Unknown

Chr18:23536782

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791860

rs_1446718670

1 SubmittersRCV001264328

NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter)

SNV
Unknown

Chr18:23539365

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792383

rs_2058679233

1 SubmittersRCV001264329

NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter)

SNV
Unknown

Chr18:23539864

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792746

rs_2058687419

1 SubmittersRCV001264330

NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter)

SNV
Unknown

Chr18:23539936

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792905

rs_780592540

1 SubmittersRCV001264331

NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter)

SNV
Unknown

Chr18:23540473

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793123

rs_2058698544

1 SubmittersRCV001264332

NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)

SNV
Unknown

Chr18:23540477

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793129

rs_2058698654

1 SubmittersRCV001264333

NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter)

SNV
Unknown

Chr18:23544382

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401771327

rs_2058754064

1 SubmittersRCV001263759

NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter)

SNV
Unknown

Chr18:23554974

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401776746

rs_2058929021

1 SubmittersRCV001263760

NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter)

SNV
Unknown

Chr18:23556477

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401778391

rs_2058953311

1 SubmittersRCV001263761

NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter)

SNV
Unknown

Chr18:23556499

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401778537

rs_1555637232

1 SubmittersRCV001263762

NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)

SNV
Unknown

Chr18:23557171

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401779745

rs_150154006

1 SubmittersRCV001263763

NM_000271.5(NPC1):c.872G>A (p.Trp291Ter)

SNV
Unknown

Chr18:23560240

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401780771

rs_2059018297

1 SubmittersRCV001263764

NM_000271.5(NPC1):c.681T>A (p.Cys227Ter)

SNV
Unknown

Chr18:23560431

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401781353

rs_2059021939

1 SubmittersRCV001263765

NM_000271.5(NPC1):c.586A>T (p.Lys196Ter)

SNV
Unknown

Chr18:23561405

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401782223

rs_754653682

1 SubmittersRCV001263766

NM_000271.5(NPC1):c.339T>A (p.Cys113Ter)

SNV
Unknown

Chr18:23568947

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401785620

rs_2059164609

1 SubmittersRCV001263844

NM_000271.5(NPC1):c.327T>A (p.Cys109Ter)

SNV
Unknown

Chr18:23568959

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401785739

rs_2059164764

1 SubmittersRCV001263845

NM_000271.5(NPC1):c.88G>T (p.Glu30Ter)

SNV
Unknown

Chr18:23573544

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA402041378

rs_2059233326

1 SubmittersRCV001263846

NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)

SNV
Germline

Chr18:23539830

Pathogenic/Likely pathogenic

Inborn genetic diseases
Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8912981

rs_564631426

4 SubmittersRCV001265934 RCV001880105 RCV005408788

NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)

SNV
Germline

Chr18:23544402

Likely pathogenic

Sphingomyelin/cholesterol lipidosis
Niemann-Pick disease, type C
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401771365

rs_1555634422

3 SubmittersRCV001267686 RCV003230656 RCV003605754

NM_000271.5(NPC1):c.745C>T (p.Pro249Ser)

SNV
Germline

Chr18:23560367

Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401781214

rs_1184804915

2 SubmittersRCV001269829 RCV005606797

NM_000271.5(NPC1):c.743G>T (p.Gly248Val)

SNV
Germline

Chr18:23560369

Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401781217

rs_1230538609

3 SubmittersRCV001289552 RCV005408807

NM_000271.5(NPC1):c.506A>T (p.Asn169Ile)

SNV
Germline

Chr18:23561485

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401782786

rs_767361180

3 SubmittersRCV001290125

NM_000271.5(NPC1):c.3419G>T (p.Gly1140Val)

SNV
Germline

Chr18:23535527

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791238

rs_2058616184

1 SubmittersRCV001321455

NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)

SNV
Germline

Chr18:23538582

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401792165

rs_2058666849

4 SubmittersRCV001327013 RCV004719134 RCV005408835

NM_000271.5(NPC1):c.1901A>T (p.Tyr634Phe)

SNV
Germline

Chr18:23545006

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401772234

rs_202140203

2 SubmittersRCV001318487 RCV005911027

NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter)

SNV
Unknown

Chr18:23541382

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793746

rs_2058711607

1 SubmittersRCV001332329

NM_000271.5(NPC1):c.2246-2A>G

SNV
Germline

Chr18:23541435

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

rs_2058712401

1 SubmittersRCV005203453

NM_000271.5(NPC1):c.2374-1G>A

SNV
Germline

Chr18:23541209

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793569

rs_2145381556

1 SubmittersRCV001358671

NM_000271.5(NPC1):c.2291C>T (p.Ala764Val)

SNV
Germline

Chr18:23541388

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8913151

rs_773765255

1 SubmittersRCV001377828

NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser)

SNV
Germline

Chr18:23551654

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401774770

rs_2145433190

1 SubmittersRCV001377547

NM_000271.5(NPC1):c.1270C>T (p.Pro424Ser)

SNV
Germline

Chr18:23556299

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401777299

rs_143797098

2 SubmittersRCV001377029 RCV005648143

NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)

SNV
Germline

Chr18:23556455

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401778276

rs_1346436537

5 SubmittersRCV001377829 RCV003226468 RCV004720885

NM_000271.5(NPC1):c.463+2T>G

SNV
Germline

Chr18:23568821

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401784638

rs_2145526252

1 SubmittersRCV001379196

NM_000271.5(NPC1):c.3044G>T (p.Gly1015Val)

SNV
Germline

Chr18:23536874

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8912866

rs_761773567

1 SubmittersRCV001383763

NM_000271.5(NPC1):c.2928C>A (p.Cys976Ter)

SNV
Germline

Chr18:23538655

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792315

rs_370766410

1 SubmittersRCV001387073

NM_000271.5(NPC1):c.2683G>T (p.Glu895Ter)

SNV
Germline

Chr18:23539923

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792876

rs_2145373524

1 SubmittersRCV001385787

NM_000271.5(NPC1):c.1654+1G>A

SNV
Germline

Chr18:23551626

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401774709

rs_2145433024

1 SubmittersRCV001382711

NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala)

SNV
Germline

Chr18:23556446

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8913531

rs_746372120

1 SubmittersRCV001380115

NM_000271.5(NPC1):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr18:23568937

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401785531

rs_2145527075

1 SubmittersRCV001383912

NM_000271.5(NPC1):c.85G>T (p.Gly29Ter)

SNV
Germline

Chr18:23573547

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA402041383

rs_2145552346

1 SubmittersRCV001383131

NM_000271.5(NPC1):c.110A>G (p.Asp37Gly)

SNV
Germline

Chr18:23573522

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
NPC1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8913824

rs_776181190

3 SubmittersRCV001460913 RCV004749694 RCV006557459

NM_000271.5(NPC1):c.2912-5G>A

SNV
Germline

Chr18:23538676

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
NPC1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8912912

rs_369985476

3 SubmittersRCV001490993 RCV004749703 RCV005256809

NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)

SNV
Germline

Chr18:23560417

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8913663

rs_201956601

3 SubmittersRCV001487935 RCV006557468

NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr)

SNV
Germline

Chr18:23554878

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401775714

rs_2145447716

1 SubmittersRCV001580608

NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)

SNV
Germline

Chr18:23541314

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401793597

rs_1555633697

2 SubmittersRCV001786523

NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser)

SNV
Germline

Chr18:23544366

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401771291

rs_2058753693

2 SubmittersRCV001797017

NM_000271.5(NPC1):c.3203C>T (p.Thr1068Ile)

SNV
Germline

Chr18:23536715

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
NPC1-related disorder
Inborn genetic diseases
Russell-Silver syndrome

Criteria Provided
Conflicting Classifications

CA8912841

rs_754323286

8 SubmittersRCV001800083 RCV002544377 RCV003407813 RCV004040878 RCV005626490

NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter)

SNV
Germline

Chr18:23539419

Pathogenic

Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA401792500

rs_2145370569

2 SubmittersRCV001807957 RCV002541460

NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser)

SNV
Germline

Chr18:23538627

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA401792261

rs_1364834942

3 SubmittersRCV001822151 RCV001869651

NM_000271.5(NPC1):c.2519C>A (p.Ala840Glu)

SNV
Germline

Chr18:23540533

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793243

rs_2145378239

1 SubmittersRCV001823514

NM_000271.5(NPC1):c.464-2A>C

SNV
Germline

Chr18:23561529

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401783122

rs_2145485704

2 SubmittersRCV003500689 RCV001825048

NM_000271.5(NPC1):c.1844G>A (p.Arg615His)

SNV
Germline

Chr18:23545063

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401772841

rs_773351341

1 SubmittersRCV001988681

NM_000271.5(NPC1):c.1028G>A (p.Gly343Glu)

SNV
Germline

Chr18:23556541

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401778796

rs_1444308532

1 SubmittersRCV001923227

NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu)

SNV
Germline

Chr18:23556403

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401777941

rs_373751051

1 SubmittersRCV001989546

NM_000271.5(NPC1):c.1166G>A (p.Arg389His)

SNV
Germline

Chr18:23556403

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8913527

rs_373751051

1 SubmittersRCV001989551

NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg)

SNV
Germline

Chr18:23535513

Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401791208

rs_2145350224

2 SubmittersRCV002015000 RCV006458861

NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg)

SNV
Germline

Chr18:23551669

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401774802

rs_2145433298

1 SubmittersRCV002013524

NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala)

SNV
Germline

Chr18:23556541

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401778794

rs_1444308532

1 SubmittersRCV002048164

NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr)

SNV
Germline

Chr18:23572173

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401786634

rs_2145544950

1 SubmittersRCV001990349

NM_000271.5(NPC1):c.1990G>C (p.Val664Leu)

SNV
Germline

Chr18:23544484

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8913241

rs_376213990

1 SubmittersRCV001969112

NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu)

SNV
Germline

Chr18:23556308

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA401777356

rs_2058949363

2 SubmittersRCV001950501 RCV002442918

NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)

SNV
Germline

Chr18:23535552

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA297079175

rs_1046046139

3 SubmittersRCV001938161

NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala)

SNV
Germline

Chr18:23544403

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401771367

rs_2058754429

2 SubmittersRCV002049074 RCV005419323

NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu)

SNV
Germline

Chr18:23534544

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA8912745

rs_748862167

2 SubmittersRCV002017447 RCV003402041

NM_000271.5(NPC1):c.1550T>A (p.Val517Glu)

SNV
Germline

Chr18:23554761

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401775226

rs_2145446753

1 SubmittersRCV001971644

NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser)

SNV
Germline

Chr18:23545064

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401772863

rs_745777805

1 SubmittersRCV002001321

NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu)

SNV
Germline

Chr18:23544474

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401771622

rs_2058756032

2 SubmittersRCV001892286

NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu)

SNV
Germline

Chr18:23554899

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8913470

rs_201226297

2 SubmittersRCV001916974 RCV004720978

NM_000271.5(NPC1):c.3591+2T>A

SNV
Germline

Chr18:23534444

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790855

rs_1555631888

1 SubmittersRCV002000176

NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser)

SNV
Germline

Chr18:23538651

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401792308

rs_28942108

2 SubmittersRCV002024676

NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)

SNV
Germline

Chr18:23548091

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8913395

rs_201156397

3 SubmittersRCV002038330 RCV006262340

NM_000271.5(NPC1):c.2604+5G>A

SNV
Germline

Chr18:23540443

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA2290166229

rs_2058697907

1 SubmittersRCV001870804

NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val)

SNV
Germline

Chr18:23534516

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA297078678

rs_780175800

1 SubmittersRCV001979490

NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly)

SNV
Germline

Chr18:23543500

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401770822

rs_2145394815

1 SubmittersRCV002050898

NM_000271.5(NPC1):c.3068T>G (p.Val1023Gly)

SNV
Germline

Chr18:23536850

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792005

rs_2145357984

1 SubmittersRCV001913022

NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly)

SNV
Germline

Chr18:23535524

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA297079167

rs_144725473

2 SubmittersRCV001864018 RCV004690149

NM_000271.5(NPC1):c.1415T>C (p.Leu472Pro)

SNV
Germline

Chr18:23554896

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401775782

rs_2145447843

1 SubmittersRCV002019754

NM_000271.5(NPC1):c.2933G>A (p.Arg978His)

SNV
Germline

Chr18:23538650

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA8912907

rs_752728865

2 SubmittersRCV002023091

NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)

SNV
Germline

Chr18:23556527

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401778711

rs_1474434210

4 SubmittersRCV001935139 RCV003226501 RCV004591626

NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)

SNV
Unknown

Chr18:23554893

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401775772

rs_2511276304

1 SubmittersRCV002291318

NM_000271.5(NPC1):c.956-2A>G

SNV
Germline

Chr18:23556615

Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401779223

rs_1473909084

2 SubmittersRCV002224515 RCV003774660

NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)

SNV
Germline

Chr18:23551666

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401774796

rs_2511262796

1 SubmittersRCV002284061

NM_000271.5(NPC1):c.1757+1G>T

SNV
Germline

Chr18:23548005

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401773365

rs_2058813191

1 SubmittersRCV002284064

NM_000271.5(NPC1):c.1757+2T>G

SNV
Germline

Chr18:23548004

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401773361

rs_2511249838

1 SubmittersRCV002284066

NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)

SNV
Germline

Chr18:23544447

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401771471

rs_2145400163

1 SubmittersRCV002284068

NM_000271.5(NPC1):c.2130+1G>C

SNV
Germline

Chr18:23544343

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401771242

rs_2058753286

1 SubmittersRCV002284072

NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr18:23543554

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401770937

rs_1454412918

2 SubmittersRCV002284074

NM_000271.5(NPC1):c.2515-2A>G

SNV
Germline

Chr18:23540539

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793258

rs_2511218496

1 SubmittersRCV002284076

NM_000271.5(NPC1):c.2604+2T>G

SNV
Germline

Chr18:23540446

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793060

rs_2511217778

1 SubmittersRCV002284077

NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)

SNV
Germline

Chr18:23539911

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792849

rs_2511213925

1 SubmittersRCV002284080

NM_000271.5(NPC1):c.2758G>A (p.Val920Met)

SNV
Germline

Chr18:23539848

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792710

rs_2511213406

1 SubmittersRCV002284084

NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)

SNV
Germline

Chr18:23539836

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401792680

rs_2511213296

2 SubmittersRCV002284085 RCV006262405

NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)

SNV
Germline

Chr18:23539824

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792654

rs_2511213147

1 SubmittersRCV002284086

NM_000271.5(NPC1):c.3041+1G>T

SNV
Germline

Chr18:23538541

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792068

rs_2145366125

1 SubmittersRCV002284091

NM_000271.5(NPC1):c.3245+1G>T

SNV
Germline

Chr18:23536672

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791625

rs_2511196440

1 SubmittersRCV002284095

NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)

SNV
Germline

Chr18:23535681

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791572

rs_374526072

1 SubmittersRCV002284097

NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)

SNV
Germline

Chr18:23535632

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791461

rs_2145351377

1 SubmittersRCV002284100

NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)

SNV
Germline

Chr18:23568948

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401785632

rs_2511341428

1 SubmittersRCV002284102

NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)

SNV
Germline

Chr18:23556283

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401777212

rs_2511282261

1 SubmittersRCV002284104

NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)

SNV
Germline

Chr18:23534547

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791074

rs_2511184214

1 SubmittersRCV002284105

NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)

SNV
Germline

Chr18:23533495

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790800

rs_758902805

1 SubmittersRCV002284107

NM_000271.5(NPC1):c.497C>A (p.Pro166His)

SNV
Germline

Chr18:23561494

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401782849

rs_2511309549

1 SubmittersRCV002284112

NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)

SNV
Germline

Chr18:23561462

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401782619

rs_2511309222

1 SubmittersRCV002284113

NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)

SNV
Germline

Chr18:23561459

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401782596

rs_2511309193

1 SubmittersRCV002284114

NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)

SNV
Germline

Chr18:23554972

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401776735

rs_1057517077

3 SubmittersRCV002284115 RCV006454198

NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)

SNV
Germline

Chr18:23561440

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401782436

rs_1555638882

2 SubmittersRCV002284116 RCV003226538

NM_000271.5(NPC1):c.574T>C (p.Tyr192His)

SNV
Germline

Chr18:23561417

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA297075236

rs_556117842

2 SubmittersRCV002284117

NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)

SNV
Unknown

Chr18:23557166

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401779706

rs_2511288528

1 SubmittersRCV002309832

NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)

SNV
Germline

Chr18:23573459

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA402041185

rs_2511357450

2 SubmittersRCV002308095

NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)

SNV
Unknown

Chr18:23554940

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401776489

rs_779065920

1 SubmittersRCV002308191

NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)

SNV
Unknown

Chr18:23534484

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790936

rs_750739947

1 SubmittersRCV002309227

NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)

SNV
Unknown

Chr18:23573557

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA402041410

rs_2511358085

1 SubmittersRCV002309258

NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)

SNV
Unknown

Chr18:23556387

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401777856

rs_2511283263

1 SubmittersRCV002306976

NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)

SNV
Unknown

Chr18:23551639

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401774737

rs_2511262593

1 SubmittersRCV002307302

NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)

SNV
Unknown

Chr18:23539395

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792450

rs_2511210229

1 SubmittersRCV002310379

NM_000271.5(NPC1):c.3173C>A (p.Ala1058Asp)

SNV
Germline

Chr18:23536745

Conflicting classifications of pathogenicity

Inborn genetic diseases
NPC1-related disorder
Niemann-Pick disease, type C1

Criteria Provided
Conflicting Classifications

CA401791777

rs_2511197050

3 SubmittersRCV002322666 RCV003408228 RCV006470497

NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)

SNV
Germline

Chr18:23533472

Pathogenic/Likely pathogenic

Condition: not provided
Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8912686

rs_766178353

3 SubmittersRCV002505928 RCV002574717 RCV003235730

NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)

SNV
Germline

Chr18:23538608

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8912900

rs_757534240

2 SubmittersRCV003050499 RCV003230762

NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)

SNV
Germline

Chr18:23554891

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA297068266

rs_1040639267

1 SubmittersRCV003050500

NM_000271.5(NPC1):c.1201C>A (p.Pro401Thr)

SNV
Germline

Chr18:23556368

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401777707

rs_766301620

1 SubmittersRCV003041330

NM_000271.5(NPC1):c.275A>G (p.Gln92Arg)

SNV
Germline

Chr18:23572086

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401786362

rs_2145544354

2 SubmittersRCV003064506

NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)

SNV
Germline

Chr18:23572174

Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA8913794

rs_747049347

2 SubmittersRCV003064507 RCV006454320

NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)

SNV
Germline

Chr18:23543566

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8913196

rs_776682510

1 SubmittersRCV003089602

NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)

SNV
Germline

Chr18:23536818

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401791941

rs_2058637844

2 SubmittersRCV002617205 RCV004526937

NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)

SNV
Germline

Chr18:23540526

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401793230

rs_1462754046

2 SubmittersRCV002605692 RCV004587367

NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)

SNV
Germline

Chr18:23540530

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793238

rs_1363313204

2 SubmittersRCV002726695

NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)

SNV
Germline

Chr18:23535680

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791569

rs_2511191394

1 SubmittersRCV002819844

NM_000271.5(NPC1):c.80G>A (p.Trp27Ter)

SNV
Germline

Chr18:23573552

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA402041399

rs_2511358068

1 SubmittersRCV002797169

NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)

SNV
Germline

Chr18:23535495

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791169

rs_765729815

1 SubmittersRCV002823923

NM_000271.5(NPC1):c.2641C>T (p.Gln881Ter)

SNV
Germline

Chr18:23539965

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792964

rs_2511214388

1 SubmittersRCV002857322

NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)

SNV
Germline

Chr18:23535511

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791203

rs_753637056

1 SubmittersRCV002894754

NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)

SNV
Germline

Chr18:23536812

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791929

rs_2511197628

1 SubmittersRCV002928093

NM_000271.5(NPC1):c.2796-2A>T

SNV
Germline

Chr18:23539472

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792617

rs_2511210964

1 SubmittersRCV002952698

NM_000271.5(NPC1):c.631+1G>T

SNV
Germline

Chr18:23561359

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401782020

rs_2511308216

1 SubmittersRCV002953354

NM_000271.5(NPC1):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr18:23573454

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401787318

rs_2511357416

1 SubmittersRCV003022849

NM_000271.5(NPC1):c.463+1G>A

SNV
Germline

Chr18:23568822

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401784649

rs_2511340604

1 SubmittersRCV003021667

NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)

SNV
Germline

Chr18:23534480

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790927

rs_200444084

1 SubmittersRCV003043727

NM_000271.5(NPC1):c.3478-1G>C

SNV
Germline

Chr18:23534560

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791106

rs_2511184326

1 SubmittersRCV003053544

NM_000271.5(NPC1):c.1026G>A (p.Trp342Ter)

SNV
Germline

Chr18:23556543

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401778812

rs_2511284626

1 SubmittersRCV003045028

NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg)

SNV
Germline

Chr18:23535700

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791616

rs_761952957

1 SubmittersRCV003234979

NM_000271.5(NPC1):c.2740T>A (p.Cys914Ser)

SNV
Germline

Chr18:23539866

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792752

rs_2511213538

1 SubmittersRCV003236706

NM_000271.5(NPC1):c.2246-1G>A

SNV
Unknown

Chr18:23541434

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793851

rs_2511223044

1 SubmittersRCV003315271

NM_000271.5(NPC1):c.1955C>G (p.Ser652Trp)

SNV
Germline

Chr18:23544519

Pathogenic/Likely pathogenic

NPC1-related disorder
Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA297059738

rs_765652543

2 SubmittersRCV003402325 RCV005104328

NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)

SNV
Germline

Chr18:23534541

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401791063

rs_1567944248

2 SubmittersRCV003486329

NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)

SNV
Germline

Chr18:23534535

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791047

rs_2511184148

1 SubmittersRCV003500970

NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)

SNV
Germline

Chr18:23533378

Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401790539

rs_2511176179

3 SubmittersRCV003501729 RCV004526997

NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)

SNV
Germline

Chr18:23533462

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790732

rs_2058572854

1 SubmittersRCV003501730

NM_000271.5(NPC1):c.3426G>A (p.Met1142Ile)

SNV
Germline

Chr18:23535520

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791227

rs_1165786597

1 SubmittersRCV003501731

NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)

SNV
Germline

Chr18:23536733

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401791756

rs_2511196908

1 SubmittersRCV003501732

NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)

SNV
Germline

Chr18:23538548

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792086

rs_2511204987

1 SubmittersRCV003501734

NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)

SNV
Germline

Chr18:23538657

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792319

rs_769570326

1 SubmittersRCV003501735

NM_000271.5(NPC1):c.2662C>T (p.Pro888Ser)

SNV
Germline

Chr18:23539944

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792920

rs_1191346899

1 SubmittersRCV003501736

NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)

SNV
Germline

Chr18:23541093

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401793320

rs_770700616

2 SubmittersRCV003501737 RCV004701739

NM_000271.5(NPC1):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr18:23541356

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793689

rs_1338210490

1 SubmittersRCV003501738

NM_000271.5(NPC1):c.2245+1G>A

SNV
Germline

Chr18:23543454

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Multiple Submitters
No Conflicts

CA401770652

rs_2511229476

2 SubmittersRCV003501739

NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)

SNV
Germline

Chr18:23543529

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401770881

rs_1393388896

2 SubmittersRCV003501740 RCV005240831

NM_000271.5(NPC1):c.1501G>T (p.Asp501Tyr)

SNV
Germline

Chr18:23554810

Pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401775510

rs_2511275485

2 SubmittersRCV003501741 RCV005419656

NM_000271.5(NPC1):c.956-1G>T

SNV
Germline

Chr18:23556614

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8913565

rs_756853895

1 SubmittersRCV003500035

NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)

SNV
Germline

Chr18:23540459

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793091

rs_977397569

1 SubmittersRCV003500105

NM_000271.5(NPC1):c.274C>T (p.Gln92Ter)

SNV
Germline

Chr18:23572087

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401786363

rs_2511352133

1 SubmittersRCV003500204

NM_000271.5(NPC1):c.2514+1G>A

SNV
Germline

Chr18:23541067

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793263

rs_757477471

1 SubmittersRCV003501016

NM_000271.5(NPC1):c.3591+2T>G

SNV
Germline

Chr18:23534444

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790857

rs_1555631888

1 SubmittersRCV003605952

NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)

SNV
Germline

Chr18:23544421

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401771407

rs_1310067072

1 SubmittersRCV003605983

NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)

SNV
Germline

Chr18:23541389

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793757

rs_2511222745

1 SubmittersRCV003606164

NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)

SNV
Germline

Chr18:23539448

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792572

rs_2511210759

1 SubmittersRCV003606162

NM_000271.5(NPC1):c.180+1G>T

SNV
Germline

Chr18:23573451

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401787295

rs_2059231880

1 SubmittersRCV003606153

NM_000271.5(NPC1):c.881+1G>A

SNV
Germline

Chr18:23560230

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401780712

rs_1555638409

1 SubmittersRCV003606321

NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)

SNV
Germline

Chr18:23533475

Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401790758

rs_753419933

2 SubmittersRCV003606438 RCV006455712

NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)

SNV
Germline

Chr18:23554777

Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401775311

rs_1168944129

2 SubmittersRCV003605133 RCV005433434

NM_000271.5(NPC1):c.65C>G (p.Ser22Ter)

SNV
Germline

Chr18:23573567

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA402041432

rs_2511358187

1 SubmittersRCV003605138

NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)

SNV
Germline

Chr18:23561491

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8913720

rs_752409181

1 SubmittersRCV003605185

NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)

SNV
Germline

Chr18:23543566

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401771213

rs_776682510

1 SubmittersRCV003605303

NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)

SNV
Germline

Chr18:23554875

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401775698

rs_1555636659

1 SubmittersRCV003605278

NM_000271.5(NPC1):c.3670T>C (p.Phe1224Leu)

SNV
Germline

Chr18:23533439

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790677

rs_2058572301

1 SubmittersRCV003605217

NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)

SNV
Germline

Chr18:23543500

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401770821

rs_2145394815

1 SubmittersRCV003605321

NM_000271.5(NPC1):c.2780C>G (p.Ala927Gly)

SNV
Germline

Chr18:23539826

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792657

rs_753768576

1 SubmittersRCV003605342

NM_000271.5(NPC1):c.1757+1G>A

SNV
Germline

Chr18:23548005

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401773364

rs_2058813191

1 SubmittersRCV003605430

NM_000271.5(NPC1):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr18:23541151

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401793443

rs_2058707982

1 SubmittersRCV003605389

NM_000271.5(NPC1):c.1182C>G (p.Tyr394Ter)

SNV
Germline

Chr18:23556387

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401777855

rs_2511283263

1 SubmittersRCV003605405

NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)

SNV
Germline

Chr18:23540485

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401793146

rs_1241975606

2 SubmittersRCV003605552 RCV005419682

NM_000271.5(NPC1):c.3591+121C>T

SNV
Germline

Chr18:23534325

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA777714582

rs_1444840655

1 SubmittersRCV003606625

NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)

SNV
Germline

Chr18:23534465

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401790901

rs_2511183411

2 SubmittersRCV003606671 RCV004701802

NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)

SNV
Germline

Chr18:23543499

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401770819

rs_757475924

2 SubmittersRCV003606698 RCV004527004

NM_000271.5(NPC1):c.3106A>G (p.Thr1036Ala)

SNV
Germline

Chr18:23536812

Pathogenic/Likely pathogenic

Niemann-Pick disease, type C1
Niemann-Pick disease, type C

Criteria Provided
Multiple Submitters
No Conflicts

CA401791930

rs_2511197628

2 SubmittersRCV003606675 RCV005419686

NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)

SNV
Germline

Chr18:23535479

Conflicting classifications of pathogenicity

Niemann-Pick disease, type C1
not specified

Criteria Provided
Conflicting Classifications

CA401791139

rs_28942105

2 SubmittersRCV003606862 RCV005407238

NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)

SNV
Germline

Chr18:23551650

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401774764

rs_2511262669

1 SubmittersRCV003606966

NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)

SNV
Germline

Chr18:23540459

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA297081771

rs_977397569

1 SubmittersRCV003825754

NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)

SNV
Germline

Chr18:23539422

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401792508

rs_2511210490

1 SubmittersRCV003836224

NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)

SNV
Germline

Chr18:23540527

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA8913060

rs_374068891

1 SubmittersRCV003869028

NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)

SNV
Germline

Chr18:23534466

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

CA401790905

rs_2511183420

1 SubmittersRCV003877918

NM_000271.5(NPC1):c.955G>T (p.Gly319Ter)

SNV
Germline

Chr18:23557117

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

rs_1454083299

1 SubmittersRCV004577142

NM_000271.5(NPC1):c.1189C>T (p.Gln397Ter)

SNV
Germline

Chr18:23556380

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

rs_1478525243

1 SubmittersRCV004585182

NM_000271.5(NPC1):c.1619C>G (p.Pro540Arg)

SNV
Germline

Chr18:23551662

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

rs_1300893995

1 SubmittersRCV004594867

NM_000271.5(NPC1):c.1747T>G (p.Trp583Gly)

SNV
Germline

Chr18:23548016

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV004784916

NM_000271.5(NPC1):c.881+2T>C

SNV
Germline

Chr18:23560229

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV006514363

NM_000271.5(NPC1):c.188G>C (p.Cys63Ser)

SNV
Germline

Chr18:23572173

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005114624

NM_000271.5(NPC1):c.1269C>A (p.Tyr423Ter)

SNV
Germline

Chr18:23556300

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005122042

NM_000271.5(NPC1):c.1843C>G (p.Arg615Gly)

SNV
Germline

Chr18:23545064

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005165398

NM_000271.5(NPC1):c.2498G>A (p.Trp833Ter)

SNV
Germline

Chr18:23541084

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005203450

NM_000271.5(NPC1):c.1588C>T (p.His530Tyr)

SNV
Germline

Chr18:23551693

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005252464

NM_000271.5(NPC1):c.2620G>T (p.Asp874Tyr)

SNV
Germline

Chr18:23539986

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005253556

NM_000271.5(NPC1):c.467T>A (p.Met156Lys)

SNV
Germline

Chr18:23561524

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005604852

NM_000271.5(NPC1):c.2911+1G>A

SNV
Germline

Chr18:23539354

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

2 SubmittersRCV005609240

NM_000271.5(NPC1):c.873G>A (p.Trp291Ter)

SNV
Germline

Chr18:23560239

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

1 SubmittersRCV005609258

NM_000271.5(NPC1):c.2826G>T (p.Trp942Cys)

SNV
Germline

Chr18:23539440

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

1 SubmittersRCV005609268

NM_000271.5(NPC1):c.2071C>T (p.Pro691Ser)

SNV
Germline

Chr18:23544403

Likely pathogenic

Niemann-Pick disease, type C1

No Assertion Criteria Provided

1 SubmittersRCV005609313

NM_000271.5(NPC1):c.3622G>T (p.Gly1208Ter)

SNV
Germline

Chr18:23533487

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005636570

NM_000271.5(NPC1):c.1326+1G>T

SNV
Unknown

Chr18:23556242

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV005637761

NM_000271.5(NPC1):c.3718G>C (p.Gly1240Arg)

SNV
Germline

Chr18:23533391

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV006510170

NM_000271.5(NPC1):c.2287T>C (p.Phe763Leu)

SNV
Germline

Chr18:23541392

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV006510171

NM_000271.5(NPC1):c.497C>T (p.Pro166Leu)

SNV
Germline

Chr18:23561494

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV006510177

NM_000271.5(NPC1):c.1326+1G>A

SNV
Germline

Chr18:23556242

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV006539560

NM_000271.5(NPC1):c.1643G>A (p.Gly548Glu)

SNV
Germline

Chr18:23551638

Pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV006619217

NM_000271.5(NPC1):c.1402T>C (p.Cys468Arg)

SNV
Germline

Chr18:23554909

Likely pathogenic

Niemann-Pick disease, type C1

Criteria Provided
Single Submitter

1 SubmittersRCV006619218