"Ambry Genetics"[submitter] AND "NPC2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282548	NM_006432.5(NPC2):c.450T>C (p.His150=)	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 1730580	NM_006432.5(NPC2):c.335A>G (p.Lys112Arg)	NPC2 (K112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389070	NM_006432.5(NPC2):c.305A>G (p.Gln102Arg)	NPC2 (Q102R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 377030	NM_006432.5(NPC2):c.292A>C (p.Asn98His)	NPC2 (N98H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1796572	NM_006432.5(NPC2):c.282G>A (p.Lys94=)	NPC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 715373	NM_006432.5(NPC2):c.273T>C (p.Asp91=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C1 +3 more	GConflicting classifications of pathogenicity
Select item 290576	NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)	NPC2 (D91N)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2 +2 more	GUncertain significance
Select item 286701	NM_006432.5(NPC2):c.270T>C (p.Pro90=)	NPC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 497617	NM_006432.5(NPC2):c.264T>C (p.Pro88=)	NPC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1116187	NM_006432.5(NPC2):c.216C>T (p.Ala72=)	NPC2	Single nucleotide variant (synonymous variant)	Niemann-Pick disease, type C2 +2 more	GLikely benign
Select item 314239	NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)	NPC2 (K71R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +3 more	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 500945	NM_006432.5(NPC2):c.168C>T (p.Ser56=)	NPC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 21456	NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)	NPC2 (C47*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1769606	NM_006432.5(NPC2):c.130A>C (p.Thr44Pro)	NPC2 (T44P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1408918	NM_006432.5(NPC2):c.86C>G (p.Ser29Cys)	NPC2 (S29C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 8477	NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)	NPC2 (E20*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C2 +2 more	GPathogenic
Select item 1651899	NM_006432.5(NPC2):c.30C>T (p.Leu10=)	NPC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2267419	NM_006432.5(NPC2):c.5G>C (p.Arg2Pro)	NPC2 (R2P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 23