PPP1R14B[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2615700	NM_138689.3(PPP1R14B):c.414G>A (p.Met138Ile)	PPP1R14B (M138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217483	NM_138689.3(PPP1R14B):c.313A>G (p.Ser105Gly)	PPP1R14B (S105G)	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 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 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 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 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 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 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 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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 221479	GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3	DNAJC4, FKBP2 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 21