"PreventionGenetics, part of Exact Sciences"[submitter] AND "PPP2R5B"[ - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2629548	NM_006244.4(PPP2R5B):c.19C>T (p.Pro7Ser)	PPP2R5B (P7S)	Single nucleotide variant (missense variant)	PPP2R5B-related disorder	GUncertain significance
Select item 2641941	NM_006244.4(PPP2R5B):c.225G>A (p.Glu75=)	PPP2R5B	Single nucleotide variant (synonymous variant)	PPP2R5B-related disorder +1 more	GLikely benign
Select item 2629781	NM_006244.4(PPP2R5B):c.1298G>A (p.Gly433Glu)	PPP2R5B (G433E)	Single nucleotide variant (missense variant)	PPP2R5B-related disorder	GUncertain significance
Select item 1600832	NM_006244.4(PPP2R5B):c.1473C>T (p.Ala491=)	PPP2R5B	Single nucleotide variant (synonymous variant)	PPP2R5B-related disorder +1 more	GBenign/Likely benign

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