C4014738[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 871333	NM_005465.7(AKT3):c.803T>C (p.Val268Ala)	AKT3 (V268A)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1299320	NM_005465.7(AKT3):c.237G>C (p.Trp79Cys)	AKT3 (W79C)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GLikely pathogenic