ClinVar for MedGen (Select 867629) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523407	NM_001114753.3(ENG):c.1583del (p.Pro528fs)	ENG, LOC102723566 (P528fs +1 more)	Deletion (frameshift variant)	Telangiectasia of the skin +4 more	GPathogenic
Select item 523311	NM_000020.3(ACVRL1):c.262T>G (p.Tyr88Asp)	ACVRL1 (Y88D)	Single nucleotide variant (missense variant)	Telangiectasia of the skin +3 more	GUncertain significance
Select item 267809	46;XY;t(8;9)(q13;p22)dn		Translocation	Sensorineural hearing loss disorder +4 more	GPathogenic

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