ClinVar for Gene (Select 5493) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217309	NM_002705.5(PPL):c.757C>T (p.Arg253Cys)	PPL (R253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217308	NM_002705.5(PPL):c.741C>G (p.Asp247Glu)	PPL (D247E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217306	NM_002705.5(PPL):c.5254G>C (p.Val1752Leu)	PPL (V1752L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217305	NM_002705.5(PPL):c.523G>T (p.Val175Phe)	PPL (V175F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217304	NM_002705.5(PPL):c.5111A>G (p.Asn1704Ser)	PPL (N1704S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217302	NM_002705.5(PPL):c.4975G>C (p.Val1659Leu)	PPL (V1659L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217301	NM_002705.5(PPL):c.493G>C (p.Val165Leu)	PPL (V165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217300	NM_002705.5(PPL):c.4894G>A (p.Glu1632Lys)	PPL (E1632K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217299	NM_002705.5(PPL):c.4816A>T (p.Thr1606Ser)	PPL (T1606S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217298	NM_002705.5(PPL):c.4790G>A (p.Arg1597Gln)	PPL (R1597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217297	NM_002705.5(PPL):c.476C>T (p.Pro159Leu)	PPL (P159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217296	NM_002705.5(PPL):c.476C>G (p.Pro159Arg)	PPL (P159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217295	NM_002705.5(PPL):c.4739G>A (p.Arg1580Gln)	PPL (R1580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217294	NM_002705.5(PPL):c.4603G>A (p.Val1535Ile)	PPL (V1535I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217293	NM_002705.5(PPL):c.4594G>A (p.Glu1532Lys)	PPL (E1532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217292	NM_002705.5(PPL):c.4592G>A (p.Arg1531His)	PPL (R1531H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217291	NM_002705.5(PPL):c.448A>T (p.Asn150Tyr)	PPL (N150Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217290	NM_002705.5(PPL):c.4423C>A (p.Leu1475Ile)	LOC129390757, PPL (L1475I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217289	NM_002705.5(PPL):c.4418G>A (p.Arg1473Gln)	LOC129390757, PPL (R1473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217288	NM_002705.5(PPL):c.4415G>A (p.Arg1472Gln)	LOC129390757, PPL (R1472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217287	NM_002705.5(PPL):c.4370G>A (p.Arg1457Gln)	LOC129390757, PPL (R1457Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217286	NM_002705.5(PPL):c.4192G>A (p.Glu1398Lys)	PPL (E1398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217285	NM_002705.5(PPL):c.4121G>A (p.Ser1374Asn)	PPL (S1374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217284	NM_002705.5(PPL):c.411C>G (p.Asn137Lys)	PPL (N137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217283	NM_002705.5(PPL):c.3900A>C (p.Glu1300Asp)	PPL (E1300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217282	NM_002705.5(PPL):c.3743T>C (p.Leu1248Pro)	PPL (L1248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217281	NM_002705.5(PPL):c.344C>G (p.Thr115Ser)	PPL (T115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217280	NM_002705.5(PPL):c.3403C>T (p.Arg1135Cys)	PPL (R1135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217279	NM_002705.5(PPL):c.3313C>T (p.Arg1105Trp)	PPL (R1105W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217278	NM_002705.5(PPL):c.3304G>C (p.Glu1102Gln)	PPL (E1102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217277	NM_002705.5(PPL):c.313G>A (p.Glu105Lys)	PPL (E105K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217276	NM_002705.5(PPL):c.3136A>C (p.Ser1046Arg)	PPL (S1046R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217275	NM_002705.5(PPL):c.3135G>T (p.Lys1045Asn)	PPL (K1045N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217273	NM_002705.5(PPL):c.3088G>C (p.Glu1030Gln)	PPL (E1030Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217272	NM_002705.5(PPL):c.3080G>A (p.Arg1027Gln)	PPL (R1027Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217271	NM_002705.5(PPL):c.3076G>A (p.Ala1026Thr)	PPL (A1026T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217270	NM_002705.5(PPL):c.304A>G (p.Met102Val)	PPL (M102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217269	NM_002705.5(PPL):c.3000C>G (p.Ile1000Met)	PPL (I1000M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217268	NM_002705.5(PPL):c.2977G>T (p.Val993Leu)	PPL (V993L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217267	NM_002705.5(PPL):c.2944G>A (p.Glu982Lys)	PPL (E982K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217266	NM_002705.5(PPL):c.283A>G (p.Met95Val)	PPL (M95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217265	NM_002705.5(PPL):c.2726T>A (p.Leu909Gln)	PPL (L909Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217264	NM_002705.5(PPL):c.2612C>T (p.Pro871Leu)	PPL (P871L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217263	NM_002705.5(PPL):c.2171G>A (p.Ser724Asn)	PPL (S724N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217262	NM_002705.5(PPL):c.2150A>T (p.Gln717Leu)	PPL (Q717L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217261	NM_002705.5(PPL):c.2087A>T (p.Asp696Val)	PPL (D696V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217259	NM_002705.5(PPL):c.1979G>A (p.Cys660Tyr)	PPL (C660Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217258	NM_002705.5(PPL):c.1847G>A (p.Arg616His)	PPL (R616H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217256	NM_002705.5(PPL):c.1750C>G (p.Pro584Ala)	PPL (P584A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217255	NM_002705.5(PPL):c.1569G>C (p.Lys523Asn)	PPL (K523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217254	NM_002705.5(PPL):c.1459C>T (p.Arg487Trp)	PPL (R487W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217253	NM_002705.5(PPL):c.1231G>C (p.Glu411Gln)	PPL (E411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217252	NM_002705.5(PPL):c.1132G>A (p.Val378Met)	PPL (V378M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217251	NM_002705.5(PPL):c.1129G>A (p.Val377Met)	PPL (V377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025425	NM_002705.5(PPL):c.4781G>A (p.Arg1594Gln)	PPL (R1594Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2692557	NM_002705.5(PPL):c.3519G>T (p.Lys1173Asn)	PPL (K1173N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684780	GRCh37/hg19 16p13.3(chr16:4971768-5305499)x3	ALG1, C16orf89 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2646173	NM_002705.5(PPL):c.318T>C (p.Asp106=)	PPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2646172	NM_002705.5(PPL):c.1011C>T (p.Arg337=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646171	NM_002705.5(PPL):c.1417G>A (p.Val473Met)	PPL (V473M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646170	NM_002705.5(PPL):c.2159G>A (p.Arg720His)	PPL (R720H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646169	NM_002705.5(PPL):c.2402A>G (p.Tyr801Cys)	PPL (Y801C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646168	NM_002705.5(PPL):c.2460C>T (p.Ser820=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646167	NM_002705.5(PPL):c.2735A>T (p.Glu912Val)	PPL (E912V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646166	NM_002705.5(PPL):c.2825C>T (p.Pro942Leu)	PPL (P942L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646165	NM_002705.5(PPL):c.4098C>T (p.Ala1366=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646164	NM_002705.5(PPL):c.4344G>A (p.Val1448=)	LOC129390757, PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646163	NM_002705.5(PPL):c.5004G>A (p.Glu1668=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646162	NM_002705.5(PPL):c.5247G>C (p.Ala1749=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623486	NM_002705.5(PPL):c.2846G>A (p.Ser949Asn)	PPL (S949N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616011	NM_002705.5(PPL):c.4940G>C (p.Arg1647Pro)	PPL (R1647P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610018	NM_002705.5(PPL):c.430G>A (p.Glu144Lys)	PPL (E144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609880	NM_002705.5(PPL):c.202C>T (p.Arg68Trp)	PPL (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609032	NM_002705.5(PPL):c.1539G>C (p.Lys513Asn)	PPL (K513N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606989	NM_002705.5(PPL):c.1733C>G (p.Pro578Arg)	PPL (P578R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606830	NM_002705.5(PPL):c.2816A>G (p.Lys939Arg)	PPL (K939R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603426	NM_002705.5(PPL):c.2713C>T (p.Arg905Trp)	PPL (R905W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600238	NM_002705.5(PPL):c.4223G>A (p.Arg1408His)	PPL (R1408H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599648	NM_002705.5(PPL):c.4117G>A (p.Glu1373Lys)	PPL (E1373K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594873	NM_002705.5(PPL):c.4772C>T (p.Thr1591Met)	PPL (T1591M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594021	NM_002705.5(PPL):c.3949G>C (p.Glu1317Gln)	PPL (E1317Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593745	NM_002705.5(PPL):c.4649A>G (p.His1550Arg)	PPL (H1550R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590479	NM_002705.5(PPL):c.4085C>G (p.Pro1362Arg)	PPL (P1362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589398	NM_002705.5(PPL):c.886G>C (p.Glu296Gln)	PPL (E296Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589104	NM_002705.5(PPL):c.2449G>C (p.Gly817Arg)	PPL (G817R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569313	NM_002705.5(PPL):c.4594G>C (p.Glu1532Gln)	PPL (E1532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562281	NM_002705.5(PPL):c.4388G>A (p.Arg1463Gln)	LOC129390757, PPL (R1463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558220	NM_002705.5(PPL):c.1379T>C (p.Leu460Pro)	PPL (L460P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557139	NM_002705.5(PPL):c.355G>T (p.Gly119Trp)	PPL (G119W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553440	NM_002705.5(PPL):c.2546T>C (p.Val849Ala)	PPL (V849A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551006	NM_002705.5(PPL):c.1947C>G (p.Asp649Glu)	PPL (D649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548273	NM_002705.5(PPL):c.963C>G (p.Asp321Glu)	PPL (D321E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546218	NM_002705.5(PPL):c.1724A>G (p.Gln575Arg)	PPL (Q575R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543896	NM_002705.5(PPL):c.2905G>A (p.Glu969Lys)	PPL (E969K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543037	NM_002705.5(PPL):c.115G>A (p.Asp39Asn)	PPL (D39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537032	NM_002705.5(PPL):c.449A>G (p.Asn150Ser)	PPL (N150S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525179	NM_002705.5(PPL):c.3668G>A (p.Gly1223Asp)	PPL (G1223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524346	NM_002705.5(PPL):c.1009C>T (p.Arg337Cys)	PPL (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523458	NM_002705.5(PPL):c.1673G>A (p.Arg558Gln)	PPL (R558Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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