ClinVar for MedGen (Select 815270) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128774	NM_001321142.2(CIDEC):c.96G>T (p.Leu32=)	CIDEC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 50400	NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter)	CIDEC (E186* +3 more)	Single nucleotide variant (nonsense)	CIDEC-related familial partial lipodystrophy	GPathogenic