C3553249[trait identifier] AND "Laboratory of Medical Genetics, Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177356	NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu)	SMARCA4 (R549L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16 +1 more	GLikely pathogenic
Select item 1802555	NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)	SMARCA4 (E1023G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 16	GLikely pathogenic