ClinVar for MedGen (Select 1684754) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582632	NM_001365310.2(PERCC1):c.348C>G (p.Tyr116Ter)	PERCC1 (Y116*)	Single nucleotide variant (nonsense)	Diarrhea 11, malabsorptive, congenital	GLikely pathogenic
Select item 694449	NC_000016.10:g.1430850_1433951del	LOC115253417, PERCC1	Deletion	Diarrhea 11, malabsorptive, congenital	GPathogenic
Select item 694448	NC_000016.10:g.1425365_1432378del	LOC115253417, LOC130058164 +2 more	Deletion	Diarrhea 11, malabsorptive, congenital	GPathogenic

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