"PPP5C-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053594	NM_006247.4(PPP5C):c.2T>C (p.Met1Thr)	LOC130064748, PPP5C (M1T)	Single nucleotide variant (missense variant +1 more)	PPP5C-related disorder	GLikely benign
Select item 3031833	NM_006247.4(PPP5C):c.46dup (p.Arg16fs)	PPP5C (R16fs)	Duplication (frameshift variant)	PPP5C-related disorder	GUncertain significance
Select item 2633501	NM_006247.4(PPP5C):c.458C>G (p.Ala153Gly)	PPP5C (A153G)	Single nucleotide variant (missense variant)	PPP5C-related disorder	GUncertain significance
Select item 3059137	NM_006247.4(PPP5C):c.492G>A (p.Ser164=)	PPP5C	Single nucleotide variant (synonymous variant)	PPP5C-related disorder	GLikely benign
Select item 3037600	NM_006247.4(PPP5C):c.915G>A (p.Glu305=)	PPP5C	Single nucleotide variant (synonymous variant)	PPP5C-related disorder	GLikely benign

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