PPP1R13B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 57840	GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1	ADSS1, AKT1 +177 more	Copy number loss	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 155689	GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3	ASPG, ATP5MJ +72 more	Copy number gain	See cases	GUncertain significance
Select item 3217455	NM_015316.3(PPP1R13B):c.3254G>A (p.Arg1085Gln)	PPP1R13B (R1085Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217454	NM_015316.3(PPP1R13B):c.3200G>A (p.Arg1067Gln)	PPP1R13B (R1067Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238662	NM_015316.3(PPP1R13B):c.3198C>A (p.Asp1066Glu)	PPP1R13B (D1066E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309333	NM_015316.3(PPP1R13B):c.3187C>T (p.Arg1063Cys)	PPP1R13B (R1063C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217453	NM_015316.3(PPP1R13B):c.3152G>A (p.Arg1051His)	PPP1R13B (R1051H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478084	NM_015316.3(PPP1R13B):c.3142A>G (p.Ile1048Val)	PPP1R13B (I1048V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644591	NM_015316.3(PPP1R13B):c.3123C>T (p.His1041=)	PPP1R13B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2313451	NM_015316.3(PPP1R13B):c.2945C>T (p.Ala982Val)	PPP1R13B (A982V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711103	NM_015316.3(PPP1R13B):c.2880C>T (p.Cys960=)	PPP1R13B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2362381	NM_015316.3(PPP1R13B):c.2840T>C (p.Val947Ala)	PPP1R13B (V947A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217451	NM_015316.3(PPP1R13B):c.2806A>G (p.Ile936Val)	PPP1R13B (I936V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217450	NM_015316.3(PPP1R13B):c.2791G>A (p.Ala931Thr)	PPP1R13B (A931T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784295	NM_015316.3(PPP1R13B):c.2790C>T (p.Cys930=)	PPP1R13B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2239234	NM_015316.3(PPP1R13B):c.2785G>A (p.Val929Ile)	PPP1R13B (V929I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217449	NM_015316.3(PPP1R13B):c.2666T>C (p.Leu889Pro)	PPP1R13B (L889P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213987	NM_015316.3(PPP1R13B):c.2641G>A (p.Gly881Arg)	PPP1R13B (G881R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242617	NM_015316.3(PPP1R13B):c.2599C>T (p.Arg867Trp)	PPP1R13B (R867W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217448	NM_015316.3(PPP1R13B):c.2596A>G (p.Lys866Glu)	PPP1R13B (K866E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309332	NM_015316.3(PPP1R13B):c.2563C>T (p.Pro855Ser)	PPP1R13B (P855S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786799	NM_015316.3(PPP1R13B):c.2531G>A (p.Gly844Glu)	PPP1R13B (G844E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2560150	NM_015316.3(PPP1R13B):c.2522C>T (p.Pro841Leu)	PPP1R13B (P841L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217447	NM_015316.3(PPP1R13B):c.2521C>T (p.Pro841Ser)	PPP1R13B (P841S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217446	NM_015316.3(PPP1R13B):c.2497A>T (p.Ile833Phe)	PPP1R13B (I833F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217445	NM_015316.3(PPP1R13B):c.2496G>C (p.Gln832His)	PPP1R13B (Q832H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530526	NM_015316.3(PPP1R13B):c.2489C>T (p.Thr830Met)	PPP1R13B (T830M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219717	NM_015316.3(PPP1R13B):c.2447C>T (p.Pro816Leu)	PPP1R13B (P816L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217444	NM_015316.3(PPP1R13B):c.2428A>G (p.Thr810Ala)	PPP1R13B (T810A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456156	NM_015316.3(PPP1R13B):c.2398G>A (p.Glu800Lys)	PPP1R13B (E800K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217443	NM_015316.3(PPP1R13B):c.2395C>T (p.Pro799Ser)	PPP1R13B (P799S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217442	NM_015316.3(PPP1R13B):c.2375A>G (p.Asn792Ser)	PPP1R13B (N792S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217441	NM_015316.3(PPP1R13B):c.2323G>A (p.Ala775Thr)	PPP1R13B (A775T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217440	NM_015316.3(PPP1R13B):c.2308G>A (p.Glu770Lys)	PPP1R13B (E770K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309328	NM_015316.3(PPP1R13B):c.2291A>G (p.Asn764Ser)	PPP1R13B (N764S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644592	NM_015316.3(PPP1R13B):c.2271T>C (p.Asp757=)	PPP1R13B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309331	NM_015316.3(PPP1R13B):c.2256G>C (p.Met752Ile)	PPP1R13B (M752I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615389	NM_015316.3(PPP1R13B):c.2209A>G (p.Met737Val)	PPP1R13B (M737V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466883	NM_015316.3(PPP1R13B):c.2186G>A (p.Arg729His)	PPP1R13B (R729H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785470	NM_015316.3(PPP1R13B):c.2154C>T (p.Gly718=)	PPP1R13B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3217438	NM_015316.3(PPP1R13B):c.2152G>A (p.Gly718Ser)	PPP1R13B (G718S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217437	NM_015316.3(PPP1R13B):c.2131A>G (p.Ile711Val)	PPP1R13B (I711V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309329	NM_015316.3(PPP1R13B):c.2002C>T (p.Arg668Trp)	PPP1R13B (R668W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309330	NM_015316.3(PPP1R13B):c.1987G>A (p.Val663Met)	PPP1R13B (V663M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252357	NM_015316.3(PPP1R13B):c.1969C>T (p.Pro657Ser)	PPP1R13B (P657S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558384	NM_015316.3(PPP1R13B):c.1956T>A (p.Asp652Glu)	PPP1R13B (D652E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217436	NM_015316.3(PPP1R13B):c.1954G>A (p.Asp652Asn)	PPP1R13B (D652N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217435	NM_015316.3(PPP1R13B):c.1898C>T (p.Thr633Met)	PPP1R13B (T633M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785471	NM_015316.3(PPP1R13B):c.1884C>T (p.His628=)	PPP1R13B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2371253	NM_015316.3(PPP1R13B):c.1847C>T (p.Ser616Leu)	PPP1R13B (S616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207264	NM_015316.3(PPP1R13B):c.1792C>T (p.His598Tyr)	PPP1R13B (H598Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403104	NM_015316.3(PPP1R13B):c.1784C>T (p.Pro595Leu)	PPP1R13B (P595L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388704	NM_015316.3(PPP1R13B):c.1684T>G (p.Ser562Ala)	PPP1R13B (S562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355476	NM_015316.3(PPP1R13B):c.1682G>A (p.Gly561Glu)	PPP1R13B (G561E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729417	NM_015316.3(PPP1R13B):c.1663C>A (p.Pro555Thr)	PPP1R13B (P555T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787416	NM_015316.3(PPP1R13B):c.1659T>C (p.Ile553=)	PPP1R13B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309159	NM_015316.3(PPP1R13B):c.1570G>C (p.Val524Leu)	PPP1R13B (V524L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256797	NM_015316.3(PPP1R13B):c.1549C>A (p.Gln517Lys)	PPP1R13B (Q517K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217434	NM_015316.3(PPP1R13B):c.1533G>T (p.Gln511His)	PPP1R13B (Q511H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309336	NM_015316.3(PPP1R13B):c.1513G>A (p.Ala505Thr)	PPP1R13B (A505T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593114	NM_015316.3(PPP1R13B):c.1510C>T (p.Pro504Ser)	PPP1R13B (P504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508643	NM_015316.3(PPP1R13B):c.1502C>T (p.Thr501Ile)	PPP1R13B (T501I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240254	NM_015316.3(PPP1R13B):c.1483C>A (p.Pro495Thr)	PPP1R13B (P495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309327	NM_015316.3(PPP1R13B):c.1474G>A (p.Ala492Thr)	PPP1R13B (A492T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468304	NM_015316.3(PPP1R13B):c.1355C>T (p.Pro452Leu)	PPP1R13B (P452L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2265311	NM_015316.3(PPP1R13B):c.1349C>A (p.Pro450His)	PPP1R13B (P450H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215676	NM_015316.3(PPP1R13B):c.1310C>T (p.Thr437Met)	PPP1R13B (T437M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217433	NM_015316.3(PPP1R13B):c.1241G>T (p.Ser414Ile)	PPP1R13B (S414I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217432	NM_015316.3(PPP1R13B):c.1139G>T (p.Arg380Ile)	PPP1R13B (R380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594267	NM_015316.3(PPP1R13B):c.1111A>C (p.Ser371Arg)	PPP1R13B (S371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217431	NM_015316.3(PPP1R13B):c.1043C>G (p.Pro348Arg)	PPP1R13B (P348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217430	NM_015316.3(PPP1R13B):c.1019C>T (p.Ser340Leu)	PPP1R13B (S340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309335	NM_015316.3(PPP1R13B):c.947G>A (p.Arg316His)	PPP1R13B (R316H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552909	NM_015316.3(PPP1R13B):c.946C>T (p.Arg316Cys)	PPP1R13B (R316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402237	NM_015316.3(PPP1R13B):c.882A>T (p.Glu294Asp)	PPP1R13B (E294D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240680	NM_015316.3(PPP1R13B):c.881A>T (p.Glu294Val)	PPP1R13B (E294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217457	NM_015316.3(PPP1R13B):c.859T>C (p.Ser287Pro)	PPP1R13B (S287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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