"Baylor Genetics"[submitter] AND "ANKLE2"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030463	NM_015114.3(ANKLE2):c.2467C>T (p.Arg823Trp)	ANKLE2 (R823W)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive	GUncertain significance
Select item 806973	NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr)	ANKLE2 (A7T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic

Format

Sort by

Choose Destination

ClinVar