ClinVar for Gene (Select 126807121) - ClinVar - NCBI

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Links from Gene

Items: 9

	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 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 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
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 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance