ClinVar for MedGen (Select 465922) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068013	NM_000271.5(NPC1):c.3609_3610del (p.Leu1204fs)	NPC1 (L1204fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3065255	NM_000271.5(NPC1):c.3680G>C (p.Arg1227Thr)	NPC1 (R1227T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 3023631	NM_000271.5(NPC1):c.738C>T (p.Val246=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3023605	NM_000271.5(NPC1):c.956-16T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022793	NM_000271.5(NPC1):c.2514+10_2514+14dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022777	NM_000271.5(NPC1):c.1947+9_1947+10insGGCGGG	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022745	NM_000271.5(NPC1):c.2430C>T (p.Val810=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022411	NM_000271.5(NPC1):c.881+15_881+18del	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3022357	NM_000271.5(NPC1):c.1654+20A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3020947	NM_000271.5(NPC1):c.549C>T (p.Ala183=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3019811	NM_000271.5(NPC1):c.432A>G (p.Leu144=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3018805	NM_000271.5(NPC1):c.558C>T (p.Ala186=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3017467	NM_000271.5(NPC1):c.180+13T>A	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3017375	NM_000271.5(NPC1):c.3453T>A (p.Ala1151=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3016417	NM_000271.5(NPC1):c.2246-13C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3015856	NM_000271.5(NPC1):c.2246-11C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3015635	NM_000271.5(NPC1):c.3592-12C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014421	NM_000271.5(NPC1):c.956-14_956-13del	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014292	NM_000271.5(NPC1):c.2912-9C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014251	NM_000271.5(NPC1):c.882-19C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014112	NM_000271.5(NPC1):c.3246-13C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3014052	NM_000271.5(NPC1):c.801C>T (p.Ala267=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3013148	NM_000271.5(NPC1):c.3754+14T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3013008	NM_000271.5(NPC1):c.3477+20_3477+25del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3012807	NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)	NPC1 (L1191V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3011375	NM_000271.5(NPC1):c.1554-18T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3009188	NM_000271.5(NPC1):c.3477+12T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3008441	NM_000271.5(NPC1):c.3041+11C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3007597	NM_000271.5(NPC1):c.3591+17G>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3007389	NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)	NPC1 (F842S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 3007044	NM_000271.5(NPC1):c.1947+15G>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3006554	NM_000271.5(NPC1):c.1266A>G (p.Pro422=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 3003464	NM_000271.5(NPC1):c.1947+13_1947+14insGGA	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2997101	NM_000271.5(NPC1):c.1947+17_1947+18dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2996359	NM_000271.5(NPC1):c.2605-15T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2996175	NM_000271.5(NPC1):c.181-17G>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2995895	NM_000271.5(NPC1):c.3041+8del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2992960	NM_000271.5(NPC1):c.963G>T (p.Ala321=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2987403	NC_000018.10:g.23544943_23544944insACC	NPC1	Insertion	Niemann-Pick disease, type C1	GLikely benign
Select item 2986731	NC_000018.9:g.21124907_21124908insCACC	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2985485	NM_000271.5(NPC1):c.907A>T (p.Thr303Ser)	NPC1 (T303S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2985391	NM_000271.5(NPC1):c.1947+17T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2982774	NM_000271.5(NPC1):c.287+19A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2982298	NM_000271.5(NPC1):c.3041+17T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2982238	NM_000271.5(NPC1):c.180+11T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2981461	NM_000271.5(NPC1):c.3041+8C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2976129	NM_000271.5(NPC1):c.2373+13C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2976074	NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)	NPC1 (D948E)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2972884	NM_000271.5(NPC1):c.1757_1757+1del	NPC1	Microsatellite (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 2971011	NM_000271.5(NPC1):c.3654T>C (p.Ser1218=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2970946	NM_000271.5(NPC1):c.1926G>T (p.Met642Ile)	NPC1 (M642I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GBenign
Select item 2969928	NM_000271.5(NPC1):c.955+17A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2965604	NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)	NPC1 (S865T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2963669	NM_000271.5(NPC1):c.3245+13dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2960674	NM_000271.5(NPC1):c.3245+12C>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2959224	NM_000271.5(NPC1):c.2605-14del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GBenign
Select item 2958713	NM_000271.5(NPC1):c.2181C>G (p.Val727=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2957844	NM_000271.5(NPC1):c.3762A>G (p.Ser1254=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2955735	NC_000018.10:g.23544944_23544945insACC	NPC1	Insertion	Niemann-Pick disease, type C1	GLikely benign
Select item 2919970	NM_000271.5(NPC1):c.2796-16TGTC[3]	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2919730	NM_000271.5(NPC1):c.642C>T (p.Val214=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2919577	NM_000271.5(NPC1):c.447A>G (p.Gly149=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2919274	NM_000271.5(NPC1):c.1947+19_1947+20insGGG	NPC1	Insertion (intron variant)	NPC1-related condition +1 more	GLikely benign
Select item 2918972	NM_000271.5(NPC1):c.631G>A (p.Asp211Asn)	NPC1 (D211N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2918399	NM_000271.5(NPC1):c.2604+9A>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2917869	NM_000271.5(NPC1):c.3754+11T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2917382	NM_000271.5(NPC1):c.180+17A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2916520	NM_000271.5(NPC1):c.3153T>C (p.Phe1051=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2915979	NM_000271.5(NPC1):c.1947+16_1947+17insGGGGGT	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2915701	NM_000271.5(NPC1):c.3041+20C>A	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2915518	NM_000271.5(NPC1):c.1631G>A (p.Trp544Ter)	NPC1 (W544*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic
Select item 2915452	NM_000271.5(NPC1):c.1554-15del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2914201	NM_000271.5(NPC1):c.120C>T (p.Tyr40=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2913910	NM_000271.5(NPC1):c.1947+11_1947+12insGGGGTG	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2913179	NM_000271.5(NPC1):c.2787G>A (p.Leu929=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2912757	NM_000271.5(NPC1):c.1947+10_1947+11insGGGAG	NPC1	Microsatellite (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2912734	NM_000271.5(NPC1):c.2796-15G>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2912718	NM_000271.5(NPC1):c.2246-17_2246-16del	NPC1	Deletion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2912285	NC_000018.9:g.21124907_21124908insCCCTCC	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2912017	NM_000271.5(NPC1):c.1947+14_1947+15insGGGA	NPC1	Insertion (intron variant)	NPC1-related condition +1 more	GLikely benign
Select item 2911530	NM_000271.5(NPC1):c.102A>G (p.Ala34=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2910445	NM_000271.5(NPC1):c.2336del (p.Phe779fs)	NPC1 (F779fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 2909616	NM_000271.5(NPC1):c.631+18A>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2909172	NM_000271.5(NPC1):c.3754+19A>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2907931	NM_000271.5(NPC1):c.1947+15_1947+16insGA	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2907093	NM_000271.5(NPC1):c.1758-17T>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2907089	NC_000018.9:g.21124907_21124908insCCCGCC	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2906982	NM_000271.5(NPC1):c.2246-13C>A	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2905797	NM_000271.5(NPC1):c.1948-20G>T	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2905359	NM_000271.5(NPC1):c.1757+19dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2905003	NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)	NPC1 (N1156T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 2904709	NM_000271.5(NPC1):c.3246-13C>G	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2904383	NM_000271.5(NPC1):c.2604+15T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2902335	NM_000271.5(NPC1):c.1947+18_1947+19dup	NPC1	Duplication (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2902270	NM_000271.5(NPC1):c.58-14T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2901864	NM_000271.5(NPC1):c.2526T>C (p.Phe842=)	NPC1	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2901710	NM_000271.5(NPC1):c.1947+16_1947+17insGGGGC	NPC1	Insertion (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2899029	NM_000271.5(NPC1):c.1947+11G>A	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2898607	NM_000271.5(NPC1):c.1327-10C>A	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign
Select item 2898433	NM_000271.5(NPC1):c.2245+20T>C	NPC1	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C1	GLikely benign

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