PPP1R13L[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 145941	GRCh38/hg38 19q13.32(chr19:45334306-45387389)x3	ERCC2, KLC3 +4 more	Copy number gain	See cases	GLikely benign
Select item 1276848	NM_006663.4(PPP1R13L):c.*180T>C	PPP1R13L	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 974803	NM_006663.4(PPP1R13L):c.2486_2487delinsTC (p.Ter829Phe)	PPP1R13L	Indel (stop lost)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2360409	NM_006663.4(PPP1R13L):c.2483T>C (p.Val828Ala)	PPP1R13L (V828A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513644	NM_006663.4(PPP1R13L):c.2454C>A (p.Phe818Leu)	PPP1R13L (F818L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1234747	NM_006663.4(PPP1R13L):c.2449-68G>A	PPP1R13L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1696490	NM_006663.4(PPP1R13L):c.2448+726C>T	PPP1R13L	Single nucleotide variant (intron variant)	PPP1R13L-associated cardiac phenotype	GUncertain significance
Select item 1249308	NM_006663.4(PPP1R13L):c.2448+68A>G	PPP1R13L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3217471	NM_006663.4(PPP1R13L):c.2413G>A (p.Gly805Ser)	PPP1R13L (G805S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974809	NM_006663.4(PPP1R13L):c.2396G>C (p.Trp799Ser)	PPP1R13L (W799S)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2613048	NM_006663.4(PPP1R13L):c.2378C>A (p.Pro793Gln)	PPP1R13L (P793Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217470	NM_006663.4(PPP1R13L):c.2365C>T (p.Arg789Trp)	PPP1R13L (R789W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650105	NM_006663.4(PPP1R13L):c.2326G>T (p.Glu776Ter)	PPP1R13L (E776*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2650106	NM_006663.4(PPP1R13L):c.2319C>T (p.Phe773=)	PPP1R13L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227930	NM_006663.4(PPP1R13L):c.2254G>A (p.Glu752Lys)	PPP1R13L (E752K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 427813	NM_006663.4(PPP1R13L):c.2241C>G (p.Tyr747Ter)	PPP1R13L (Y747*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities +1 more	GPathogenic
Select item 974806	NM_006663.4(PPP1R13L):c.2167A>C (p.Thr723Pro)	PPP1R13L (T723P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3370275	NM_006663.4(PPP1R13L):c.2158T>G (p.Phe720Val)	PPP1R13L (F720V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783845	NM_006663.4(PPP1R13L):c.2106G>A (p.Ser702=)	PPP1R13L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3217469	NM_006663.4(PPP1R13L):c.2068G>A (p.Asp690Asn)	PPP1R13L (D690N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208584	NM_006663.4(PPP1R13L):c.2051C>G (p.Ala684Gly)	PPP1R13L (A684G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261466	NM_006663.4(PPP1R13L):c.2048G>A (p.Gly683Asp)	PPP1R13L (G683D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367961	NM_006663.4(PPP1R13L):c.2027T>C (p.Val676Ala)	PPP1R13L (V676A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217467	NM_006663.4(PPP1R13L):c.1982T>G (p.Ile661Ser)	PPP1R13L (I661S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549853	NM_006663.4(PPP1R13L):c.1955A>G (p.Asp652Gly)	PPP1R13L (D652G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397059	NM_006663.4(PPP1R13L):c.1822C>A (p.Arg608Ser)	PPP1R13L (R608S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 1264958	NM_006663.4(PPP1R13L):c.1815+12A>G	PPP1R13L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3217465	NM_006663.4(PPP1R13L):c.1739C>T (p.Pro580Leu)	PPP1R13L (P580L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309341	NM_006663.4(PPP1R13L):c.1682G>T (p.Gly561Val)	PPP1R13L (G561V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338010	NM_006663.4(PPP1R13L):c.1667G>A (p.Gly556Glu)	PPP1R13L (G556E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974804	NM_006663.4(PPP1R13L):c.1610del (p.Pro537fs)	PPP1R13L (P537fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2265087	NM_006663.4(PPP1R13L):c.1592C>T (p.Pro531Leu)	PPP1R13L (P531L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974807	NM_006663.4(PPP1R13L):c.1537del (p.Val513fs)	PPP1R13L (V513fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2292967	NM_006663.4(PPP1R13L):c.1535G>A (p.Arg512Gln)	PPP1R13L (R512Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217464	NM_006663.4(PPP1R13L):c.1515C>T (p.Pro505=)	PPP1R13L	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3309338	NM_006663.4(PPP1R13L):c.1454C>A (p.Ala485Glu)	PPP1R13L (A485E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217463	NM_006663.4(PPP1R13L):c.1445G>A (p.Gly482Asp)	PPP1R13L (G482D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309342	NM_006663.4(PPP1R13L):c.1432G>A (p.Asp478Asn)	PPP1R13L (D478N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3239241	NM_006663.4(PPP1R13L):c.1422G>A (p.Leu474=)	PPP1R13L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3217462	NM_006663.4(PPP1R13L):c.1400A>T (p.Glu467Val)	PPP1R13L (E467V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309340	NM_006663.4(PPP1R13L):c.1387G>A (p.Glu463Lys)	PPP1R13L (E463K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217461	NM_006663.4(PPP1R13L):c.1372A>C (p.Thr458Pro)	PPP1R13L (T458P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1279548	NM_006663.4(PPP1R13L):c.1355-90T>A	PPP1R13L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2650107	NM_006663.4(PPP1R13L):c.1305T>C (p.Pro435=)	PPP1R13L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374892	NM_006663.4(PPP1R13L):c.1274C>A (p.Pro425His)	PPP1R13L (P425H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217460	NM_006663.4(PPP1R13L):c.1246C>A (p.Pro416Thr)	PPP1R13L (P416T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974808	NM_006663.4(PPP1R13L):c.1219C>T (p.Gln407Ter)	PPP1R13L (Q407*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2258247	NM_006663.4(PPP1R13L):c.1186C>T (p.Pro396Ser)	PPP1R13L (P396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474947	NM_006663.4(PPP1R13L):c.1184C>T (p.Ser395Phe)	PPP1R13L (S395F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341903	NM_006663.4(PPP1R13L):c.1175T>A (p.Leu392His)	PPP1R13L (L392H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467962	NM_006663.4(PPP1R13L):c.1094C>T (p.Pro365Leu)	PPP1R13L (P365L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229319	NM_006663.4(PPP1R13L):c.1079A>C (p.Gln360Pro)	PPP1R13L (Q360P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354624	NM_006663.4(PPP1R13L):c.1075C>T (p.Pro359Ser)	PPP1R13L (P359S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699017	NM_006663.4(PPP1R13L):c.1068dup (p.Ser357fs)	PPP1R13L (S357fs)	Duplication (frameshift variant)	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2650108	NM_006663.4(PPP1R13L):c.1002C>T (p.Gly334=)	PPP1R13L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370122	NM_006663.4(PPP1R13L):c.992G>A (p.Arg331His)	PPP1R13L (R331H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599362	NM_006663.4(PPP1R13L):c.988C>T (p.Arg330Trp)	PPP1R13L (R330W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349840	NM_006663.4(PPP1R13L):c.902A>G (p.Lys301Arg)	PPP1R13L (K301R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309337	NM_006663.4(PPP1R13L):c.860C>T (p.Pro287Leu)	PPP1R13L (P287L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217477	NM_006663.4(PPP1R13L):c.854T>C (p.Leu285Pro)	PPP1R13L (L285P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217476	NM_006663.4(PPP1R13L):c.842C>T (p.Pro281Leu)	PPP1R13L (P281L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217475	NM_006663.4(PPP1R13L):c.794A>T (p.Gln265Leu)	PPP1R13L (Q265L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213458	NM_006663.4(PPP1R13L):c.778G>A (p.Glu260Lys)	PPP1R13L (E260K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974805	NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs)	PPP1R13L (P246fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 3309343	NM_006663.4(PPP1R13L):c.733C>T (p.Arg245Trp)	PPP1R13L (R245W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476649	NM_006663.4(PPP1R13L):c.728G>A (p.Arg243His)	PPP1R13L (R243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769021	NM_006663.4(PPP1R13L):c.690C>T (p.Phe230=)	PPP1R13L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3309344	NM_006663.4(PPP1R13L):c.676G>C (p.Gly226Arg)	PPP1R13L (G226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217474	NM_006663.4(PPP1R13L):c.676G>A (p.Gly226Ser)	PPP1R13L (G226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386741	NM_006663.4(PPP1R13L):c.611C>T (p.Pro204Leu)	PPP1R13L (P204L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217473	NM_006663.4(PPP1R13L):c.605C>T (p.Pro202Leu)	PPP1R13L (P202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1188825	NM_006663.4(PPP1R13L):c.580C>T (p.Gln194Ter)	PPP1R13L (Q194*)	Single nucleotide variant (nonsense)	OMIM:607463	GPathogenic
Select item 2376424	NM_006663.4(PPP1R13L):c.520C>G (p.Pro174Ala)	PPP1R13L (P174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346862	NM_006663.4(PPP1R13L):c.511C>T (p.Pro171Ser)	PPP1R13L (P171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458456	NM_006663.4(PPP1R13L):c.476C>T (p.Pro159Leu)	PPP1R13L (P159L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530975	NM_006663.4(PPP1R13L):c.473C>T (p.Ser158Phe)	PPP1R13L (S158F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225454	NM_006663.4(PPP1R13L):c.467C>A (p.Ala156Glu)	PPP1R13L (A156E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347664	NM_006663.4(PPP1R13L):c.466G>A (p.Ala156Thr)	PPP1R13L (A156T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471217	NM_006663.4(PPP1R13L):c.353C>T (p.Pro118Leu)	PPP1R13L (P118L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264645	NM_006663.4(PPP1R13L):c.269C>T (p.Thr90Ile)	PPP1R13L (T90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217472	NM_006663.4(PPP1R13L):c.263C>A (p.Ala88Glu)	PPP1R13L (A88E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052895	NM_006663.4(PPP1R13L):c.236T>G (p.Phe79Cys)	PPP1R13L (F79C)	Single nucleotide variant (missense variant)	PPP1R13L-related disorder	GLikely benign
Select item 1281943	NM_006663.4(PPP1R13L):c.198+194G>A	PPP1R13L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2272433	NM_006663.4(PPP1R13L):c.194C>A (p.Ser65Tyr)	PPP1R13L (S65Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217466	NM_006663.4(PPP1R13L):c.176C>G (p.Pro59Arg)	PPP1R13L (P59R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791480	NM_006663.4(PPP1R13L):c.162C>T (p.Pro54=)	PPP1R13L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2553178	NM_006663.4(PPP1R13L):c.158C>T (p.Ser53Phe)	PPP1R13L (S53F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284602	NM_006663.4(PPP1R13L):c.128C>T (p.Thr43Ile)	PPP1R13L (T43I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327472	NM_006663.4(PPP1R13L):c.99C>A (p.Asp33Glu)	PPP1R13L (D33E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325182	NM_006663.4(PPP1R13L):c.94C>A (p.Leu32Met)	PPP1R13L (L32M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650109	NM_006663.4(PPP1R13L):c.-21-6_-21-5del	PPP1R13L	Deletion (intron variant)	not provided	GUncertain significance
Select item 1243592	NM_006663.4(PPP1R13L):c.-21-111G>A	PPP1R13L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3366565	NC_000019.9:g.(?_45882895)_(45901598_45908256)dup	PPP1R13L	Duplication	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816086	GRCh37/hg19 19q13.32(chr19:45765313-45968157)x3	ERCC1, PPP1R13L +5 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2