ClinVar for MedGen (Select 1845936) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691742	NM_001128203.2(PLAAT3):c.339C>A (p.Cys113Ter)	PLAAT3 (C113*)	Single nucleotide variant (nonsense)	Lipodystrophy, familial partial, type 9	GPathogenic
Select item 2691741	NM_001128203.2(PLAAT3):c.286dup (p.Ala96fs)	PLAAT3 (A96fs)	Duplication (frameshift variant)	Lipodystrophy, familial partial, type 9	GPathogenic
Select item 2691740	NM_001128203.2(PLAAT3):c.16-4823_118+167del	PLAAT3	Deletion (splice acceptor variant +1 more)	Lipodystrophy, familial partial, type 9	GPathogenic

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