ClinVar for Gene (Select 10577) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376048	NC_000014.9:g.74493800T>A	ISCA2, LOC130056095 +1 more (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357715	NM_006432.5(NPC2):c.441+24G>A	NPC2	Single nucleotide variant (synonymous variant +1 more)	NPC2-related disorder	GLikely benign
Select item 3357165	NM_006432.5(NPC2):c.441+66A>T	NPC2 (E169D)	Single nucleotide variant (missense variant +1 more)	NPC2-related disorder	GUncertain significance
Select item 3300759	NM_006432.5(NPC2):c.203A>T (p.Lys68Ile)	NPC2 (K68I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242250	NM_006432.5(NPC2):c.17_18insCAGGAAACGC (p.Thr7fs)	NPC2 (T7fs)	Insertion (frameshift variant)	Niemann-Pick disease, type C2	GPathogenic
Select item 3225584	NM_006432.5(NPC2):c.223C>T (p.His75Tyr)	NPC2 (H75Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054766	NM_006432.5(NPC2):c.402A>G (p.Lys134=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	NPC2-related disorder	GLikely benign
Select item 3030991	NM_006432.5(NPC2):c.-10_-9insGCG	NPC2	Insertion (5 prime UTR variant)	NPC2-related disorder	GLikely benign
Select item 3021525	NM_006432.5(NPC2):c.441+13G>T	NPC2 (G152W)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 3020427	NM_006432.5(NPC2):c.82+12G>A	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 3012749	NM_006432.5(NPC2):c.342A>G (p.Pro114=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 3007876	NM_006432.5(NPC2):c.246A>T (p.Pro82=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 3006000	NM_006432.5(NPC2):c.441+16G>T	NPC2 (G153C)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 3004966	NM_006432.5(NPC2):c.190+16T>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 3000725	NM_006432.5(NPC2):c.363+20A>G	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2984631	NM_006432.5(NPC2):c.82+16G>A	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2983567	NM_006432.5(NPC2):c.83-20A>G	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2982084	NM_006432.5(NPC2):c.12_18del (p.Ala5fs)	NPC2 (A5fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C2	GPathogenic
Select item 2968680	NM_006432.5(NPC2):c.258C>T (p.Pro86=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2962550	NM_006432.5(NPC2):c.117G>T (p.Val39=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2919229	NM_006432.5(NPC2):c.363+18T>A	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2913598	NM_006432.5(NPC2):c.190+14G>T	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2911496	NM_006432.5(NPC2):c.442-17G>C	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2903791	NM_006432.5(NPC2):c.441+17G>C	NPC2 (G153A)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2899013	NM_006432.5(NPC2):c.364-20T>G	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2890979	NM_006432.5(NPC2):c.442-9C>T	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2882908	NM_006432.5(NPC2):c.100A>G (p.Ile34Val)	NPC2 (I34V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2877769	NM_006432.5(NPC2):c.270T>A (p.Pro90=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2871852	NM_006432.5(NPC2):c.442-8A>G	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2870466	NM_006432.5(NPC2):c.267G>A (p.Glu89=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2866903	NM_006432.5(NPC2):c.72C>T (p.Phe24=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2855543	NM_006432.5(NPC2):c.94G>A (p.Gly32Arg)	NPC2 (G32R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2846910	NM_006432.5(NPC2):c.2T>A (p.Met1Lys)	NPC2 (M1K)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GPathogenic
Select item 2840767	NM_006432.5(NPC2):c.191-18T>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2825445	NM_006432.5(NPC2):c.441+10T>C	NPC2 (S151P)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2817872	NM_006432.5(NPC2):c.15A>G (p.Ala5=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2816815	NM_006432.5(NPC2):c.83-11T>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2815703	NM_006432.5(NPC2):c.108A>G (p.Glu36=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2815278	NM_006432.5(NPC2):c.190+1G>C	NPC2	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 2808617	NM_006432.5(NPC2):c.191-4T>A	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2800558	NM_006432.5(NPC2):c.132C>T (p.Thr44=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2798173	NM_006432.5(NPC2):c.442-17G>A	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2789829	NM_006432.5(NPC2):c.190+17C>T	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2786827	NM_006432.5(NPC2):c.36G>A (p.Ala12=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2777164	NM_006432.5(NPC2):c.191-18del	NPC2	Deletion (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2766060	NM_006432.5(NPC2):c.130_131del (p.Thr44fs)	NPC2 (T44fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C2	GPathogenic
Select item 2761852	NM_006432.5(NPC2):c.364-20T>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2741621	NM_006432.5(NPC2):c.363+13A>G	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2733289	NM_006432.5(NPC2):c.442-13A>G	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2729960	NM_006432.5(NPC2):c.129C>A (p.Pro43=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2726795	NM_006432.5(NPC2):c.82+13C>A	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2719739	NM_006432.5(NPC2):c.191-1G>A	NPC2	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 2708786	NM_006432.5(NPC2):c.145C>T (p.Leu49=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2708050	NM_006432.5(NPC2):c.129del (p.Thr44fs)	NPC2 (T44fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C2	GPathogenic
Select item 2707556	NM_006432.5(NPC2):c.186C>T (p.Thr62=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2698963	NM_006432.5(NPC2):c.216C>G (p.Ala72=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2697771	NM_006432.5(NPC2):c.294C>T (p.Asn98=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2690655	NM_006432.5(NPC2):c.363+1G>A	NPC2	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2634095	NM_006432.5(NPC2):c.441+30G>A	NPC2 (W157*)	Single nucleotide variant (nonsense +1 more)	NPC2-related disorder	GUncertain significance
Select item 2585512	NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)	NPC2 (P120T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 2585170	NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)	NPC2 (Q23*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 2582299	NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)	NPC2 (S40*)	Microsatellite (nonsense)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 2565375	NM_006432.5(NPC2):c.74A>G (p.Lys25Arg)	NPC2 (K25R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498596	NM_006432.5(NPC2):c.373G>C (p.Val125Leu)	NPC2 (V125L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2450709	NM_006432.5(NPC2):c.123A>G (p.Pro41=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2 +1 more	GLikely benign
Select item 2425593	NC_000014.8:g.(?_74946967)_(74947492_?)del	NPC2	Deletion	Niemann-Pick disease, type C2	GPathogenic
Select item 2425592	NC_000014.8:g.(?_74951108)_(74953149_?)del	NPC2	Deletion	Niemann-Pick disease, type C2	GPathogenic
Select item 2267419	NM_006432.5(NPC2):c.5G>C (p.Arg2Pro)	NPC2 (R2P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202076	NM_006432.5(NPC2):c.241G>A (p.Val81Ile)	NPC2 (V81I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2201896	NM_006432.5(NPC2):c.202_203inv (p.Lys68Leu)	NPC2 (K68L)	Inversion (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2191831	NM_006432.5(NPC2):c.441+13G>A	NPC2 (G152R)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2189979	NM_006432.5(NPC2):c.363+17T>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2185137	NM_006432.5(NPC2):c.82+15C>A	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2171461	NM_006432.5(NPC2):c.146T>C (p.Leu49Pro)	NPC2 (L49P)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2155702	NM_006432.5(NPC2):c.62C>A (p.Pro21Gln)	NPC2 (P21Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2151095	NM_006432.5(NPC2):c.303C>G (p.Ile101Met)	NPC2 (I101M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2141320	NM_006432.5(NPC2):c.373G>T (p.Val125Leu)	NPC2 (V125L)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2111737	NM_006432.5(NPC2):c.296G>T (p.Cys99Phe)	NPC2 (C99F)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2108749	NM_006432.5(NPC2):c.400A>C (p.Lys134Gln)	NPC2 (K134Q)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2107076	NM_006432.5(NPC2):c.83-8T>G	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2102258	NM_006432.5(NPC2):c.393G>A (p.Gln131=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2101775	NM_006432.5(NPC2):c.120C>T (p.Ser40=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2092900	NM_006432.5(NPC2):c.132C>A (p.Thr44=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2088012	NM_006432.5(NPC2):c.2T>G (p.Met1Arg)	NPC2 (M1R)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GPathogenic
Select item 2082236	NM_006432.5(NPC2):c.217G>A (p.Val73Met)	NPC2 (V73M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2067618	NM_006432.5(NPC2):c.321T>C (p.Tyr107=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2029370	NM_006432.5(NPC2):c.39C>G (p.Leu13=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2026559	NM_006432.5(NPC2):c.414C>T (p.Leu138=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2023170	NM_006432.5(NPC2):c.234G>A (p.Leu78=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2013160	NM_006432.5(NPC2):c.442-10A>G	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2011423	NM_006432.5(NPC2):c.161C>G (p.Ser54Cys)	NPC2 (S54C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 2010932	NM_006432.5(NPC2):c.82+10A>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 2003115	NM_006432.5(NPC2):c.191-14T>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1996904	NM_006432.5(NPC2):c.315G>A (p.Lys105=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1985817	NM_006432.5(NPC2):c.232C>G (p.Leu78Val)	NPC2 (L78V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 1983288	NM_006432.5(NPC2):c.388C>T (p.Leu130Phe)	NPC2 (L130F)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GUncertain significance
Select item 1980873	NM_006432.5(NPC2):c.54G>A (p.Gln18=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1979218	NM_006432.5(NPC2):c.13G>A (p.Ala5Thr)	NPC2 (A5T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance

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