PPL[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 298

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
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 2646162	NM_002705.5(PPL):c.5247G>C (p.Ala1749=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2402369	NM_002705.5(PPL):c.5239G>A (p.Glu1747Lys)	PPL (E1747K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301630	NM_002705.5(PPL):c.5178G>C (p.Gln1726His)	PPL (Q1726H)	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 2462325	NM_002705.5(PPL):c.5111A>T (p.Asn1704Ile)	PPL (N1704I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205526	NM_002705.5(PPL):c.5082C>A (p.Asp1694Glu)	PPL (D1694E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478929	NM_002705.5(PPL):c.5039T>C (p.Ile1680Thr)	PPL (I1680T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309254	NM_002705.5(PPL):c.5032G>C (p.Gly1678Arg)	PPL (G1678R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646163	NM_002705.5(PPL):c.5004G>A (p.Glu1668=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2287557	NM_002705.5(PPL):c.4970C>G (p.Ser1657Cys)	PPL (S1657C)	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 2376094	NM_002705.5(PPL):c.4927G>A (p.Val1643Met)	PPL (V1643M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289002	NM_002705.5(PPL):c.4903G>A (p.Glu1635Lys)	PPL (E1635K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485138	NM_002705.5(PPL):c.4897A>G (p.Ile1633Val)	PPL (I1633V)	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 2398197	NM_002705.5(PPL):c.4795A>G (p.Met1599Val)	PPL (M1599V)	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 3025425	NM_002705.5(PPL):c.4781G>A (p.Arg1594Gln)	PPL (R1594Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2391088	NM_002705.5(PPL):c.4762A>G (p.Met1588Val)	PPL (M1588V)	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 2291490	NM_002705.5(PPL):c.4730T>C (p.Leu1577Pro)	PPL (L1577P)	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 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 2569313	NM_002705.5(PPL):c.4594G>C (p.Glu1532Gln)	PPL (E1532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718358	NM_002705.5(PPL):c.4593C>T (p.Arg1531=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2383963	NM_002705.5(PPL):c.4582C>T (p.Arg1528Cys)	PPL (R1528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298657	NM_002705.5(PPL):c.4570G>C (p.Glu1524Gln)	PPL (E1524Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383468	NM_002705.5(PPL):c.4471G>C (p.Glu1491Gln)	LOC129390757, PPL (E1491Q)	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 2476478	NM_002705.5(PPL):c.4411C>T (p.His1471Tyr)	LOC129390757, PPL (H1471Y)	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 714691	NM_002705.5(PPL):c.4383G>A (p.Leu1461=)	LOC129390757, PPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2646164	NM_002705.5(PPL):c.4344G>A (p.Val1448=)	LOC129390757, PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384538	NM_002705.5(PPL):c.4331C>T (p.Thr1444Met)	LOC129390757, PPL (T1444M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288336	NM_002705.5(PPL):c.4325C>G (p.Thr1442Ser)	LOC129390757, PPL (T1442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309258	NM_002705.5(PPL):c.4316A>C (p.Glu1439Ala)	LOC129390757, PPL (E1439A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507470	NM_002705.5(PPL):c.4313G>A (p.Arg1438His)	LOC129390757, PPL (R1438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309227	NM_002705.5(PPL):c.4301A>C (p.Glu1434Ala)	LOC129390757, PPL (E1434A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309244	NM_002705.5(PPL):c.4296G>C (p.Gln1432His)	LOC129390757, PPL (Q1432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401663	NM_002705.5(PPL):c.4229G>A (p.Arg1410Gln)	PPL (R1410Q)	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 3217286	NM_002705.5(PPL):c.4192G>A (p.Glu1398Lys)	PPL (E1398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775370	NM_002705.5(PPL):c.4190C>A (p.Thr1397Asn)	PPL (T1397N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3309240	NM_002705.5(PPL):c.4184G>A (p.Arg1395Gln)	PPL (R1395Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411596	NM_002705.5(PPL):c.4139G>A (p.Arg1380Gln)	PPL (R1380Q)	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 2599648	NM_002705.5(PPL):c.4117G>A (p.Glu1373Lys)	PPL (E1373K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776974	NM_002705.5(PPL):c.4104G>A (p.Ala1368=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2646165	NM_002705.5(PPL):c.4098C>T (p.Ala1366=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309236	NM_002705.5(PPL):c.4094G>A (p.Arg1365Gln)	PPL (R1365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279271	NM_002705.5(PPL):c.4093C>T (p.Arg1365Trp)	PPL (R1365W)	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 2454624	NM_002705.5(PPL):c.4034G>A (p.Arg1345Gln)	PPL (R1345Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384166	NM_002705.5(PPL):c.4021G>A (p.Glu1341Lys)	PPL (E1341K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284791	NM_002705.5(PPL):c.4001A>G (p.Glu1334Gly)	PPL (E1334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324550	NM_002705.5(PPL):c.3988G>C (p.Ala1330Pro)	PPL (A1330P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348008	NM_002705.5(PPL):c.3955C>G (p.Gln1319Glu)	PPL (Q1319E)	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 3217283	NM_002705.5(PPL):c.3900A>C (p.Glu1300Asp)	PPL (E1300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309256	NM_002705.5(PPL):c.3855G>C (p.Gln1285His)	PPL (Q1285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309237	NM_002705.5(PPL):c.3800T>C (p.Leu1267Ser)	PPL (L1267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275674	NM_002705.5(PPL):c.3769G>A (p.Asp1257Asn)	PPL (D1257N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309251	NM_002705.5(PPL):c.3764T>C (p.Ile1255Thr)	PPL (I1255T)	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 3309245	NM_002705.5(PPL):c.3691G>A (p.Val1231Met)	PPL (V1231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2381775	NM_002705.5(PPL):c.3628C>T (p.Arg1210Trp)	PPL (R1210W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309235	NM_002705.5(PPL):c.3599G>C (p.Arg1200Pro)	PPL (R1200P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343309	NM_002705.5(PPL):c.3599G>A (p.Arg1200Gln)	PPL (R1200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779008	NM_002705.5(PPL):c.3595G>C (p.Glu1199Gln)	PPL (E1199Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 740722	NM_002705.5(PPL):c.3552G>A (p.Ala1184=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3309255	NM_002705.5(PPL):c.3444G>C (p.Gln1148His)	PPL (Q1148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381109	NM_002705.5(PPL):c.3433C>T (p.Arg1145Cys)	PPL (R1145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466252	NM_002705.5(PPL):c.3424G>A (p.Ala1142Thr)	PPL (A1142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753093	NM_002705.5(PPL):c.3414G>A (p.Glu1138=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 733021	NM_002705.5(PPL):c.3399C>T (p.Leu1133=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 733022	NM_002705.5(PPL):c.3398T>A (p.Leu1133His)	PPL (L1133H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2480166	NM_002705.5(PPL):c.3392G>A (p.Ser1131Asn)	PPL (S1131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785524	NM_002705.5(PPL):c.3378C>A (p.Thr1126=)	PPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2300922	NM_002705.5(PPL):c.3243C>A (p.Asp1081Glu)	PPL (D1081E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521993	NM_002705.5(PPL):c.3154G>T (p.Val1052Phe)	PPL (V1052F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3