Related gene-specific medical variations for Gene (Select 124) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272902	NM_000667.4(ADH1A):c.245C>T (p.Thr82Ile)	ADH1A, LOC100507053 +1 more (T82I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3272893	NM_000667.4(ADH1A):c.163A>G (p.Ser55Gly)	ADH1A, LOC100507053 +1 more (S55G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3088837	NM_000667.4(ADH1A):c.890C>A (p.Pro297His)	ADH1A, LOC100507053 (P297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088830	NM_000667.4(ADH1A):c.553G>C (p.Val185Leu)	ADH1A, LOC100507053 (V185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088825	NM_000667.4(ADH1A):c.467A>G (p.Asn156Ser)	ADH1A, LOC100507053 (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088809	NM_000667.4(ADH1A):c.113G>A (p.Arg38His)	ADH1A, LOC100507053 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618342	NM_000667.4(ADH1A):c.320C>T (p.Pro107Leu)	ADH1A, LOC100507053 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593284	NM_000667.4(ADH1A):c.150T>A (p.Asp50Glu)	ADH1A, LOC100507053 +1 more (D50E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527329	NM_000667.4(ADH1A):c.520G>C (p.Gly174Arg)	ADH1A, LOC100507053 (G174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521051	NM_000667.4(ADH1A):c.407A>C (p.Lys136Thr)	ADH1A, LOC100507053 (K136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361425	NM_000667.4(ADH1A):c.796T>A (p.Ser266Thr)	ADH1A, LOC100507053 (S266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331714	NM_000667.4(ADH1A):c.1010T>C (p.Met337Thr)	ADH1A, LOC100507053 (M337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326990	NM_000667.4(ADH1A):c.368C>A (p.Thr123Asn)	ADH1A, LOC100507053 (T123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288668	NM_000667.4(ADH1A):c.883G>T (p.Val295Leu)	ADH1A, LOC100507053 (V295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249573	NM_000667.4(ADH1A):c.893A>G (p.Asp298Gly)	ADH1A, LOC100507053 (D298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240747	NM_000667.4(ADH1A):c.923T>C (p.Leu308Pro)	ADH1A, LOC100507053 (L308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206376	NM_000667.4(ADH1A):c.214G>A (p.Gly72Ser)	ADH1A, LOC100507053 +1 more (G72S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 770906	NM_000667.4(ADH1A):c.964+6T>C	ADH1A, LOC100507053	Single nucleotide variant (intron variant)	not provided	GBenign