"PreventionGenetics, part of Exact Sciences"[submitter] AND "PPP1R12A" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637226	NM_002480.3(PPP1R12A):c.3092A>T (p.Ter1031Leu)	PPP1R12A, PPP1R12A-AS2	Single nucleotide variant (stop lost)	PPP1R12A-related condition	GUncertain significance
Select item 3042334	NM_002480.3(PPP1R12A):c.2629del (p.Ser877fs)	PPP1R12A (S790fs +2 more)	Deletion (frameshift variant)	PPP1R12A-related condition	GPathogenic
Select item 2632919	NM_002480.3(PPP1R12A):c.2533C>T (p.Arg845Ter)	PPP1R12A (R758* +2 more)	Single nucleotide variant (nonsense)	PPP1R12A-related condition	GPathogenic
Select item 2895254	NM_002480.3(PPP1R12A):c.2474G>A (p.Arg825Lys)	PPP1R12A (R769K +2 more)	Single nucleotide variant (missense variant)	PPP1R12A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3052896	NM_002480.3(PPP1R12A):c.2151C>T (p.Thr717=)	PPP1R12A	Single nucleotide variant (synonymous variant)	PPP1R12A-related condition	GLikely benign
Select item 1624756	NM_002480.3(PPP1R12A):c.1661C>T (p.Ser554Phe)	PPP1R12A (S467F +1 more)	Single nucleotide variant (missense variant +1 more)	PPP1R12A-related condition +1 more	GLikely benign
Select item 2758921	NM_002480.3(PPP1R12A):c.1568G>A (p.Arg523Gln)	PPP1R12A (R436Q +1 more)	Single nucleotide variant (missense variant)	PPP1R12A-related condition +1 more	GBenign/Likely benign
Select item 2636523	NM_002480.3(PPP1R12A):c.1010T>C (p.Leu337Pro)	PPP1R12A (L250P +1 more)	Single nucleotide variant (missense variant)	PPP1R12A-related condition	GUncertain significance
Select item 3046230	NM_002480.3(PPP1R12A):c.723T>C (p.His241=)	PPP1R12A	Single nucleotide variant (synonymous variant)	PPP1R12A-related condition	GLikely benign
Select item 2633322	NM_002480.3(PPP1R12A):c.220C>G (p.Leu74Val)	LOC112163633, PPP1R12A (L74V)	Single nucleotide variant (missense variant)	PPP1R12A-related condition	GUncertain significance