C4479577[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254648	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	PPP1CB (P49R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1727054	NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)	PPP1CB (D165H)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2	GLikely pathogenic