NPC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 314235	NM_006432.5(NPC2):c.*295C>G	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 314236	NM_006432.5(NPC2):c.*271C>T	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1202055	NM_006432.5(NPC2):c.*252del	NPC2, SYNDIG1L	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 314237	NM_006432.5(NPC2):c.*237G>A	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1300451	NM_006432.5(NPC2):c.*154G>A	NPC2, SYNDIG1L	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 888512	NM_006432.5(NPC2):c.*115C>T	MIR4709, NPC2	Single nucleotide variant (non-coding transcript variant +1 more)	Niemann-Pick disease, type C1	GUncertain significance
Select item 888513	NM_006432.5(NPC2):c.*86G>A	MIR4709, NPC2	Single nucleotide variant (non-coding transcript variant +1 more)	Niemann-Pick disease, type C1	GUncertain significance
Select item 655239	NC_000014.9:g.(?_74480254)_(74486456_?)del	NPC2	Deletion	Niemann-Pick disease, type C2	GUncertain significance
Select item 502347	NM_006432.5(NPC2):c.*9T>C	NPC2	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1 +2 more	GBenign/Likely benign
Select item 500152	NM_006432.5(NPC2):c.*2T>G	NPC2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1077411	NM_006432.5(NPC2):c.455A>G (p.Ter152=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 990177	NM_006432.5(NPC2):c.454T>C (p.Ter152Gln)	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GUncertain significance
Select item 1552790	NM_006432.5(NPC2):c.453C>T (p.Leu151=)	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 287344	NM_006432.5(NPC2):c.453C>G (p.Leu151=)	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282548	NM_006432.5(NPC2):c.450T>C (p.His150=)	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	NPC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 555990	NM_006432.5(NPC2):c.442-1G>A	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GUncertain significance
Select item 1126908	NM_006432.5(NPC2):c.442-4A>G	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 197788	NM_006432.5(NPC2):c.442-4A>C	NPC2	Single nucleotide variant (intron variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2871852	NM_006432.5(NPC2):c.442-8A>G	NPC2	Single nucleotide variant (intron variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 1155067	NM_006432.5(NPC2):c.442-8A>C	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	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 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 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 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 2798173	NM_006432.5(NPC2):c.442-17G>A	NPC2	Single nucleotide variant (intron variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 1213457	NM_006432.5(NPC2):c.442-101G>T	NPC2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1209325	NM_006432.5(NPC2):c.441+193dup	NPC2	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1218591	NM_006432.5(NPC2):c.441+68C>T	NPC2 (T170I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 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 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 2191831	NM_006432.5(NPC2):c.441+13G>A	NPC2 (G152R)	Single nucleotide variant (intron variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 2825445	NM_006432.5(NPC2):c.441+10T>C	NPC2 (S151P)	Single nucleotide variant (intron variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 1559673	NM_006432.5(NPC2):c.441+9A>T	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 1152865	NM_006432.5(NPC2):c.441+9A>G	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 1939552	NM_006432.5(NPC2):c.441+8T>C	NPC2 (L150P)	Single nucleotide variant (intron variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 100734	NM_006432.5(NPC2):c.441+1G>A	ACYP1, NPC2 (V148I)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type C1 +4 more	GConflicting classifications of pathogenicity
Select item 1523959	NM_006432.5(NPC2):c.437A>G (p.Gln146Arg)	NPC2 (Q146R)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GUncertain significance
Select item 8485	NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)	NPC2 (Q146*)	Single nucleotide variant (nonsense +1 more)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 1560558	NM_006432.5(NPC2):c.429C>A (p.Ile143=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 554860	NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del)	NPC2 (C140del)	Microsatellite (inframe_deletion +1 more)	Niemann-Pick disease, type C2	GConflicting classifications of pathogenicity
Select item 553522	NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)	NPC2 (W141*)	Single nucleotide variant (nonsense +1 more)	Niemann-Pick disease, type C2	GPathogenic/Likely pathogenic
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 990178	NM_006432.5(NPC2):c.414C>A (p.Leu138=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 1461024	NM_006432.5(NPC2):c.406C>G (p.Gln136Glu)	NPC2 (Q136E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 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 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 1400726	NM_006432.5(NPC2):c.381G>C (p.Glu127Asp)	NPC2 (E127D)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GUncertain significance
Select item 1660103	NM_006432.5(NPC2):c.375G>A (p.Val125=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
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 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 1125454	NM_006432.5(NPC2):c.372G>C (p.Leu124=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 1144923	NM_006432.5(NPC2):c.370C>T (p.Leu124=)	NPC2	Single nucleotide variant (synonymous variant +1 more)	Niemann-Pick disease, type C2	GLikely benign
Select item 550768	NM_006432.5(NPC2):c.364-2A>G	NPC2	Single nucleotide variant (splice acceptor variant +1 more)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 1479542	NM_006432.5(NPC2):c.364-3C>T	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 795716	NM_006432.5(NPC2):c.364-8T>G	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1114938	NM_006432.5(NPC2):c.364-10C>T	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1629158	NM_006432.5(NPC2):c.364-11T>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1655460	NM_006432.5(NPC2):c.364-13T>C	NPC2	Single nucleotide variant (intron variant)	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 2761852	NM_006432.5(NPC2):c.364-20T>C	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 680699	NM_006432.5(NPC2):c.363+154A>G	NPC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680698	NM_006432.5(NPC2):c.363+117_363+118insAGC	NPC2	Insertion (intron variant)	not provided	GBenign
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 2919229	NM_006432.5(NPC2):c.363+18T>A	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1632631	NM_006432.5(NPC2):c.363+16_363+18del	NPC2	Microsatellite (intron variant)	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 2741621	NM_006432.5(NPC2):c.363+13A>G	NPC2	Single nucleotide variant (intron variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 314238	NM_006432.5(NPC2):c.363+7G>A	NPC2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 1959925	NM_006432.5(NPC2):c.360C>T (p.Pro120=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
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 8486	NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	NPC2 (P120S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GPathogenic
Select item 983844	NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter)	NPC2 (Y119*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 594094	NM_006432.5(NPC2):c.352G>A (p.Glu118Lys)	NPC2 (E118K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 8480	NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)	NPC2 (E118*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C +1 more	GPathogenic
Select item 1356273	NM_006432.5(NPC2):c.351C>T (p.Ser117=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 1715024	NM_006432.5(NPC2):c.349A>C (p.Ser117Arg)	NPC2 (S117R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
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 1724522	NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)	NPC2 (K112fs)	Indel (frameshift variant)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 1730580	NM_006432.5(NPC2):c.335A>G (p.Lys112Arg)	NPC2 (K112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983845	NM_006432.5(NPC2):c.334A>T (p.Lys112Ter)	NPC2 (K112*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 550596	NM_006432.5(NPC2):c.333T>G (p.Asn111Lys)	NPC2 (N111K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 21459	NM_006432.5(NPC2):c.332del (p.Asn111fs)	NPC2 (N111fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 1108647	NM_006432.5(NPC2):c.330G>C (p.Leu110=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1615220	NM_006432.5(NPC2):c.327C>T (p.Tyr109=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
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 1557225	NM_006432.5(NPC2):c.318C>T (p.Thr106=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign
Select item 1109654	NM_006432.5(NPC2):c.318C>G (p.Thr106=)	NPC2	Single nucleotide variant (synonymous 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 1611706	NM_006432.5(NPC2):c.312C>T (p.Asp104=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2	GLikely benign

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