Related gene-specific medical variations for Gene (Select 26472) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2595435	NM_138689.3(PPP1R14B):c.109G>A (p.Ala37Thr)	PPP1R14B, PPP1R14B-AS1 (A37T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555182	NM_138689.3(PPP1R14B):c.115G>C (p.Glu39Gln)	PPP1R14B, PPP1R14B-AS1 (E39Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513154	NM_138689.3(PPP1R14B):c.32C>A (p.Ala11Glu)	LOC130005922, PPP1R14B +1 more (A11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338409	NM_138689.3(PPP1R14B):c.52G>A (p.Gly18Arg)	LOC130005922, PPP1R14B +1 more (G18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317451	NM_138689.3(PPP1R14B):c.128G>T (p.Gly43Val)	PPP1R14B-AS1, PPP1R14B (G43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289509	NM_138689.3(PPP1R14B):c.26G>A (p.Gly9Asp)	LOC130005922, PPP1R14B +1 more (G9D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233800	NM_138689.3(PPP1R14B):c.35T>G (p.Leu12Trp)	LOC130005922, PPP1R14B +1 more (L12W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar