ClinVar for MedGen (Select 83401) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549853	NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter)	GLMN (E544* +1 more)	Single nucleotide variant (nonsense +1 more)	Blue rubber bleb nevus	GPathogenic
Select item 298140	NM_053274.3(GLMN):c.761C>G (p.Pro254Arg)	GLMN (P254R)	Single nucleotide variant (missense variant +1 more)	Blue rubber bleb nevus +1 more	GConflicting classifications of pathogenicity
Select item 9294	NM_000459.5(TEK):c.2690A>C (p.Tyr897Ser)	TEK (Y897S +4 more)	Single nucleotide variant (missense variant)	Blue rubber bleb nevus	GLikely pathogenic

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