ClinVar for Gene (Select 105369340) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309348	NM_138689.3(PPP1R14B):c.97C>A (p.Pro33Thr)	PPP1R14B, PPP1R14B-AS1 (P33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217482	NM_138689.3(PPP1R14B):c.131C>A (p.Ala44Glu)	PPP1R14B, PPP1R14B-AS1 (A44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595435	NM_138689.3(PPP1R14B):c.109G>A (p.Ala37Thr)	PPP1R14B, PPP1R14B-AS1 (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555182	NM_138689.3(PPP1R14B):c.115G>C (p.Glu39Gln)	PPP1R14B, PPP1R14B-AS1 (E39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513154	NM_138689.3(PPP1R14B):c.32C>A (p.Ala11Glu)	LOC130005922, PPP1R14B +1 more (A11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338409	NM_138689.3(PPP1R14B):c.52G>A (p.Gly18Arg)	LOC130005922, PPP1R14B +1 more (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317451	NM_138689.3(PPP1R14B):c.128G>T (p.Gly43Val)	PPP1R14B, PPP1R14B-AS1 (G43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289509	NM_138689.3(PPP1R14B):c.26G>A (p.Gly9Asp)	LOC130005922, PPP1R14B +1 more (G9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233800	NM_138689.3(PPP1R14B):c.35T>G (p.Leu12Trp)	LOC130005922, PPP1R14B +1 more (L12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic