"Ambry Genetics"[submitter] AND "VDAC1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2312827	NM_003374.3(VDAC1):c.758C>G (p.Pro253Arg)	VDAC1 (P177R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464903	NM_003374.3(VDAC1):c.650C>T (p.Thr217Met)	VDAC1 (T194M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391408	NM_003374.3(VDAC1):c.502A>G (p.Asn168Asp)	VDAC1 (N145D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335481	NM_003374.3(VDAC1):c.437A>G (p.Tyr146Cys)	VDAC1 (Y123C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216457	NM_003374.3(VDAC1):c.353A>G (p.Tyr118Cys)	VDAC1 (Y132C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2250523	NM_003374.3(VDAC1):c.184T>A (p.Tyr62Asn)	VDAC1 (Y62N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459681	NM_003374.3(VDAC1):c.183G>C (p.Lys61Asn)	VDAC1 (K38N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514306	NM_003374.3(VDAC1):c.164C>T (p.Thr55Met)	VDAC1 (T55M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance