"Ambry Genetics"[submitter] AND "PPP1R13L"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3217471	NM_006663.4(PPP1R13L):c.2413G>A (p.Gly805Ser)	PPP1R13L (G805S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2227930	NM_006663.4(PPP1R13L):c.2254G>A (p.Glu752Lys)	PPP1R13L (E752K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3217465	NM_006663.4(PPP1R13L):c.1739C>T (p.Pro580Leu)	PPP1R13L (P580L)	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 2265087	NM_006663.4(PPP1R13L):c.1592C>T (p.Pro531Leu)	PPP1R13L (P531L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	GLikely benign
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 3217462	NM_006663.4(PPP1R13L):c.1400A>T (p.Glu467Val)	PPP1R13L (E467V)	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 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 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 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 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 2476649	NM_006663.4(PPP1R13L):c.728G>A (p.Arg243His)	PPP1R13L (R243H)	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 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 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 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

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Items: 55