"PreventionGenetics, part of Exact Sciences"[submitter] AND "PPP1CB"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038158	NM_002709.3(PPP1CB):c.42G>C (p.Arg14=)	PPP1CB	Single nucleotide variant (synonymous variant)	PPP1CB-related disorder	GLikely benign
Select item 747303	NM_002709.3(PPP1CB):c.53-9G>A	PPP1CB	Single nucleotide variant (intron variant)	PPP1CB-related disorder +2 more	GBenign/Likely benign
Select item 2633494	NM_002709.3(PPP1CB):c.71G>T (p.Gly24Val)	PPP1CB (G24V)	Single nucleotide variant (missense variant)	PPP1CB-related disorder	GUncertain significance
Select item 2637301	NM_002709.3(PPP1CB):c.142C>G (p.Gln48Glu)	PPP1CB (Q48E)	Single nucleotide variant (missense variant)	PPP1CB-related disorder	GUncertain significance
Select item 1664808	NM_002709.3(PPP1CB):c.198A>G (p.Gly66=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2629844	NM_002709.3(PPP1CB):c.280G>C (p.Asp94His)	PPP1CB (D94H)	Single nucleotide variant (missense variant)	PPP1CB-related disorder	GUncertain significance
Select item 1596546	NM_002709.3(PPP1CB):c.316C>T (p.Leu106=)	PPP1CB	Single nucleotide variant (synonymous variant)	PPP1CB-related disorder +2 more	GLikely benign
Select item 1666395	NM_002709.3(PPP1CB):c.357C>T (p.Leu119=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1996744	NM_002709.3(PPP1CB):c.415+7G>C	PPP1CB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1599402	NM_002709.3(PPP1CB):c.520+7T>C	PPP1CB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 254653	NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)	PPP1CB (E274K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3050508	NM_002709.3(PPP1CB):c.879+8G>A	PPP1CB	Single nucleotide variant (intron variant)	PPP1CB-related disorder	GLikely benign
Select item 1413520	NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu)	PPP1CB (P323L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 736677	NM_002709.3(PPP1CB):c.972G>A (p.Pro324=)	PPP1CB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign