"Genome-Nilou Lab"[submitter] AND "ANKLE2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1098724	NM_015114.3(ANKLE2):c.2672G>C (p.Gly891Ala)	ANKLE2 (G891A)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive +1 more	GBenign
Select item 1192433	NM_015114.3(ANKLE2):c.2159G>A (p.Arg720His)	ANKLE2 (R720H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1098725	NM_015114.3(ANKLE2):c.2038G>A (p.Glu680Lys)	ANKLE2 (E680K)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive +1 more	GBenign
Select item 1192434	NM_015114.3(ANKLE2):c.1891+84G>A	ANKLE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192435	NM_015114.3(ANKLE2):c.1700+104G>C	ANKLE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192436	NM_015114.3(ANKLE2):c.1700+48A>G	ANKLE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192437	NM_015114.3(ANKLE2):c.1594-93A>G	ANKLE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192438	NM_015114.3(ANKLE2):c.1421-138G>C	ANKLE2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192467	NM_015114.3(ANKLE2):c.641-35T>A	ANKLE2	Single nucleotide variant (intron variant)	Microcephaly 16, primary, autosomal recessive +1 more	GBenign
Select item 1192468	NM_015114.3(ANKLE2):c.364C>T (p.His122Tyr)	ANKLE2 (H122Y)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive +1 more	GBenign