"Revvity Omics, Revvity"[submitter] AND "NPC1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690654	NM_000271.5(NPC1):c.3496G>T (p.Glu1166Ter)	NPC1 (E1166*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 2432260	NM_000271.5(NPC1):c.3470_3473delinsAA (p.Leu1157fs)	NPC1 (L1157fs)	Indel (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 92712	NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)	NPC1 (V1115F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2434413	NM_000271.5(NPC1):c.3340A>G (p.Met1114Val)	NPC1 (M1114V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2967	NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	NPC1 (I1061T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +5 more	GPathogenic
Select item 550833	NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)	NPC1 (L1045P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2966	NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	NPC1 (P1007A)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +10 more	GConflicting classifications of pathogenicity
Select item 21137	NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)	NPC1 (G992R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2960	NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	NPC1 (G992W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1512551	NM_000271.5(NPC1):c.2933G>A (p.Arg978His)	NPC1 (R978H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 181457	NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	NPC1 (S954L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2971	NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	NPC1 (V950M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552715	NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)	NPC1 (A927V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 194810	NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	NPC1 (D874V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +4 more	GPathogenic/Likely pathogenic
Select item 1120226	NM_000271.5(NPC1):c.2531dup (p.Val845fs)	NPC1 (V845fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 499258	NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)	NPC1 (F842L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +2 more	GConflicting classifications of pathogenicity
Select item 370184	NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)	NPC1 (Y825C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 326265	NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly)	NPC1 (R711G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 181451	NM_000271.5(NPC1):c.1937G>A (p.Arg646His)	NPC1 (R646H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2689598	NM_000271.5(NPC1):c.1900T>A (p.Tyr634Asn)	NPC1 (Y634N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1519574	NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)	NPC1 (A558T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 2434412	NM_000271.5(NPC1):c.1453T>G (p.Leu485Val)	NPC1 (L485V)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 499939	NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)	NPC1 (R404W)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic/Likely pathogenic
Select item 863837	NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)	NPC1 (R389C)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 2434411	NM_000271.5(NPC1):c.1013T>C (p.Leu338Pro)	NPC1 (L338P)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 2585184	NM_000271.5(NPC1):c.749AGCCCC[3] (p.Pro253_Pro254insGlnPro)	NPC1	Microsatellite (inframe_insertion)	Niemann-Pick disease, type C1	GUncertain significance
Select item 1148181	NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)	NPC1 (D232G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 181450	NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)	NPC1 (A183T)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +3 more	GConflicting classifications of pathogenicity
Select item 370143	NM_000271.5(NPC1):c.352_353del (p.Gln119fs)	NPC1 (Q119fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1 +1 more	GPathogenic
Select item 596173	NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)	NPC1 (N70S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GUncertain significance

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Items: 30