ALDH1A2-AS1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
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 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 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 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 3060978	NM_003888.4(ALDH1A2):c.-6G>A	ALDH1A2, ALDH1A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ALDH1A2-related disorder	GBenign

ClinVar