PPP4R3B[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 58869	GRCh38/hg38 2p16.1(chr2:55426587-56072649)x3	CFAP36, EFEMP1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2317452	NM_001122964.3(PPP4R3B):c.2542G>T (p.Gly848Cys)	PPP4R3B (G816C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570543	NM_001122964.3(PPP4R3B):c.2536C>T (p.Arg846Cys)	PPP4R3B (R814C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242760	NM_001122964.3(PPP4R3B):c.2490T>G (p.Asp830Glu)	PPP4R3B (D830E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217850	NM_001122964.3(PPP4R3B):c.2480A>T (p.Tyr827Phe)	PPP4R3B (Y827F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496361	NM_001122964.3(PPP4R3B):c.2452A>C (p.Lys818Gln)	PPP4R3B (K818Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217849	NM_001122964.3(PPP4R3B):c.2441T>G (p.Val814Gly)	PPP4R3B (V729G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248517	NM_001122964.3(PPP4R3B):c.2407T>A (p.Ser803Thr)	PPP4R3B (S771T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322515	NM_001122964.3(PPP4R3B):c.2354G>A (p.Gly785Glu)	PPP4R3B (G753E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306619	NM_001122964.3(PPP4R3B):c.2342G>A (p.Ser781Asn)	PPP4R3B (S696N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465934	NM_001122964.3(PPP4R3B):c.2334C>G (p.His778Gln)	PPP4R3B (H693Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309547	NM_001122964.3(PPP4R3B):c.2209C>T (p.Pro737Ser)	PPP4R3B (P705S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309550	NM_001122964.3(PPP4R3B):c.2191C>A (p.Pro731Thr)	PPP4R3B (P646T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217848	NM_001122964.3(PPP4R3B):c.2183T>C (p.Val728Ala)	PPP4R3B (V728A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217847	NM_001122964.3(PPP4R3B):c.2117C>G (p.Ala706Gly)	PPP4R3B (A706G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569039	NM_001122964.3(PPP4R3B):c.1958C>T (p.Ala653Val)	PPP4R3B (A568V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217846	NM_001122964.3(PPP4R3B):c.1955C>T (p.Thr652Ile)	PPP4R3B (T620I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147996	GRCh38/hg38 2p16.1(chr2:55570578-60519844)x1	BCL11A, CCDC85A +83 more	Copy number loss	See cases	GPathogenic
Select item 2405393	NM_001122964.3(PPP4R3B):c.1681C>T (p.His561Tyr)	PPP4R3B (H529Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238009	NM_001122964.3(PPP4R3B):c.1661G>A (p.Cys554Tyr)	PPP4R3B (C522Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404603	NM_001122964.3(PPP4R3B):c.1597A>G (p.Ile533Val)	PPP4R3B (I501V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309549	NM_001122964.3(PPP4R3B):c.1454A>G (p.Asp485Gly)	PPP4R3B (D485G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236809	NM_001122964.3(PPP4R3B):c.1295G>A (p.Gly432Glu)	PPP4R3B (G432E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327937	NM_001122964.3(PPP4R3B):c.1204G>A (p.Val402Ile)	PPP4R3B (V402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217845	NM_001122964.3(PPP4R3B):c.1142C>T (p.Ser381Leu)	PPP4R3B (S381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365582	NM_001122964.3(PPP4R3B):c.1114A>T (p.Met372Leu)	PPP4R3B (M372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309543	NM_001122964.3(PPP4R3B):c.1111G>T (p.Val371Leu)	PPP4R3B (V371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217852	NM_001122964.3(PPP4R3B):c.964G>C (p.Asp322His)	PPP4R3B (D322H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309548	NM_001122964.3(PPP4R3B):c.949T>C (p.Phe317Leu)	PPP4R3B (F317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403112	NM_001122964.3(PPP4R3B):c.896A>G (p.Lys299Arg)	PPP4R3B (K299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383229	NM_001122964.3(PPP4R3B):c.711A>C (p.Arg237Ser)	PPP4R3B (R237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309544	NM_001122964.3(PPP4R3B):c.563C>T (p.Thr188Ile)	PPP4R3B (T188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217851	NM_001122964.3(PPP4R3B):c.472C>G (p.Arg158Gly)	PPP4R3B (R158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464843	NM_001122964.3(PPP4R3B):c.362G>A (p.Arg121Gln)	PPP4R3B (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494324	NM_001122964.3(PPP4R3B):c.310G>C (p.Asp104His)	PPP4R3B (D104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309546	NM_001122964.3(PPP4R3B):c.230A>C (p.Asn77Thr)	PPP4R3B (N77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217844	NM_001122964.3(PPP4R3B):c.106A>G (p.Lys36Glu)	PPP4R3B (K36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480025	NM_001122964.3(PPP4R3B):c.7G>C (p.Asp3His)	PPP4R3B (D3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807595	GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3	CCDC88A, CFAP36 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526740	GRCh37/hg19 2p16.1(chr2:55588867-56935857)	CCDC85A, CCDC88A +6 more	Copy number loss	not specified	GUncertain significance
Select item 814265	GRCh37/hg19 2p16.1(chr2:55616424-56026559)x3	PNPT1, PPP4R3B +2 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443680	GRCh37/hg19 2p16.1(chr2:55588867-56927117)x1	CCDC85A, CCDC88A +6 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

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Items: 52