Related gene-specific medical variations for Gene (Select 8854) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064766	NM_003888.4(ALDH1A2):c.117+7508dup	ALDH1A2 (I14fs)	Duplication (frameshift variant +1 more)	Diaphragmatic hernia 4, with cardiovascular defects	GUncertain significance
Select item 3060978	NM_003888.4(ALDH1A2):c.-6G>A	ALDH1A2, ALDH1A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ALDH1A2-related disorder	GBenign
Select item 3052449	NM_003888.4(ALDH1A2):c.111C>T (p.Tyr37=)	ALDH1A2, ALDH1A2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	ALDH1A2-related disorder	GLikely benign
Select item 3024882	NM_003888.4(ALDH1A2):c.49G>A (p.Ala17Thr)	ALDH1A2, ALDH1A2-AS1 (A17T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 2308432	NM_003888.4(ALDH1A2):c.92C>T (p.Pro31Leu)	ALDH1A2, ALDH1A2-AS1 (P31L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2232413	NM_003888.4(ALDH1A2):c.28G>C (p.Gly10Arg)	ALDH1A2, ALDH1A2-AS1 (G10R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1526462	GRCh37/hg19 15q21.3(chr15:58292124-58323958)	ALDH1A2	Copy number loss	not specified	GUncertain significance

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