ClinVar for MedGen (Select 1698793) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500941	NM_130466.4(UBE3B):c.2569-2A>C	UBE3B	Single nucleotide variant (splice acceptor variant)	Blepharophimosis - intellectual disability syndrome	GPathogenic
Select item 982400	NM_003070.5(SMARCA2):c.1529A>G (p.Asp510Gly)	SMARCA2 (D510G)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome	GLikely pathogenic