"PreventionGenetics, part of Exact Sciences"[submitter] AND "PPP2R1A"[ - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 717496	NM_014225.6(PPP2R1A):c.259C>T (p.His87Tyr)	PPP2R1A (H87Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 710150	NM_014225.6(PPP2R1A):c.484G>A (p.Val162Met)	PPP2R1A (V162M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1563132	NM_014225.6(PPP2R1A):c.504-10C>T	PPP2R1A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 521503	NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)	PPP2R1A (S219L +1 more)	Single nucleotide variant (missense variant +1 more)	PPP2R1A-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1596185	NM_014225.6(PPP2R1A):c.807+4del	PPP2R1A	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 1647742	NM_014225.6(PPP2R1A):c.888C>T (p.Ala296=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	PPP2R1A-related disorder +1 more	GLikely benign
Select item 1609829	NM_014225.6(PPP2R1A):c.1056C>T (p.Leu352=)	PPP2R1A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3047120	NM_014225.6(PPP2R1A):c.1128+10C>T	PPP2R1A	Single nucleotide variant (intron variant)	PPP2R1A-related disorder	GLikely benign
Select item 714811	NM_014225.6(PPP2R1A):c.1303-6C>T	PPP2R1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2193233	NM_014225.6(PPP2R1A):c.1648A>G (p.Ile550Val)	LOC126862924, PPP2R1A (I550V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2629631	NM_014225.6(PPP2R1A):c.1661+5G>A	LOC126862924, PPP2R1A	Single nucleotide variant (intron variant)	PPP2R1A-related disorder	GUncertain significance