Related gene-specific medical variations for Gene (Select 6009) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238630	NM_005614.4(RHEB):c.104_105delinsTA (p.Tyr35Leu)	RHEB (Y35L)	Indel (missense variant)	Isolated focal cortical dysplasia type II	GPathogenic
Select item 545666	NM_005614.4(RHEB):c.119A>T (p.Glu40Val)	RHEB (E40V)	Single nucleotide variant (missense variant)	Hemimegalencephaly	GLikely pathogenic
Select item 376515	NM_005614.4(RHEB):c.103T>A (p.Tyr35Asn)	RHEB (Y35N)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic

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