ClinVar for Gene (Select 5069) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304262	NM_002581.5(PAPPA):c.977T>C (p.Leu326Pro)	PAPPA (L326P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304261	NM_002581.5(PAPPA):c.194C>A (p.Pro65Gln)	PAPPA (P65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304260	NM_002581.5(PAPPA):c.671T>C (p.Val224Ala)	PAPPA (V224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304259	NM_002581.5(PAPPA):c.350A>G (p.Asp117Gly)	PAPPA (D117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304258	NM_002581.5(PAPPA):c.157C>G (p.Arg53Gly)	PAPPA (R53G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304257	NM_002581.5(PAPPA):c.1067G>A (p.Arg356His)	PAPPA (R356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304256	NM_002581.5(PAPPA):c.1066C>T (p.Arg356Cys)	PAPPA (R356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304255	NM_002581.5(PAPPA):c.2458G>A (p.Ala820Thr)	PAPPA (A820T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304254	NM_002581.5(PAPPA):c.2812G>A (p.Val938Ile)	PAPPA (V938I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304253	NM_002581.5(PAPPA):c.217C>A (p.Arg73Ser)	PAPPA (R73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304252	NM_002581.5(PAPPA):c.827G>A (p.Gly276Asp)	PAPPA (G276D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304251	NM_002581.5(PAPPA):c.256G>C (p.Ala86Pro)	PAPPA (A86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304250	NM_002581.5(PAPPA):c.4375C>T (p.Arg1459Trp)	PAPPA, PAPPA-AS2 (R1459W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304249	NM_002581.5(PAPPA):c.1910G>A (p.Ser637Asn)	PAPPA (S637N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304248	NM_002581.5(PAPPA):c.3728G>C (p.Arg1243Pro)	PAPPA, PAPPA-AS2 (R1243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304247	NM_002581.5(PAPPA):c.4376G>A (p.Arg1459Gln)	PAPPA, PAPPA-AS2 (R1459Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304246	NM_002581.5(PAPPA):c.2041G>A (p.Val681Ile)	PAPPA (V681I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304245	NM_002581.5(PAPPA):c.3711G>C (p.Gln1237His)	PAPPA, PAPPA-AS2 (Q1237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208474	NM_002581.5(PAPPA):c.85C>G (p.Arg29Gly)	PAPPA (R29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208472	NM_002581.5(PAPPA):c.4510A>G (p.Thr1504Ala)	PAPPA (T1504A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208471	NM_002581.5(PAPPA):c.445C>T (p.Arg149Cys)	PAPPA (R149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208470	NM_002581.5(PAPPA):c.4457G>A (p.Ser1486Asn)	PAPPA, PAPPA-AS2 (S1486N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208469	NM_002581.5(PAPPA):c.4436C>T (p.Ser1479Leu)	PAPPA, PAPPA-AS2 (S1479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208468	NM_002581.5(PAPPA):c.4337A>T (p.Asp1446Val)	PAPPA, PAPPA-AS2 (D1446V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208466	NM_002581.5(PAPPA):c.3943C>T (p.Arg1315Cys)	PAPPA, PAPPA-AS2 (R1315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208465	NM_002581.5(PAPPA):c.3758A>T (p.Asp1253Val)	PAPPA, PAPPA-AS2 (D1253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208464	NM_002581.5(PAPPA):c.3559G>A (p.Val1187Ile)	PAPPA, PAPPA-AS2 (V1187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208463	NM_002581.5(PAPPA):c.3367C>T (p.Leu1123Phe)	PAPPA, PAPPA-AS2 (L1123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208462	NM_002581.5(PAPPA):c.3245C>T (p.Thr1082Ile)	PAPPA, PAPPA-AS2 (T1082I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208461	NM_002581.5(PAPPA):c.2725G>A (p.Val909Ile)	PAPPA (V909I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208460	NM_002581.5(PAPPA):c.265G>C (p.Glu89Gln)	PAPPA (E89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208459	NM_002581.5(PAPPA):c.262G>A (p.Glu88Lys)	PAPPA (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208458	NM_002581.5(PAPPA):c.2620G>A (p.Asp874Asn)	PAPPA (D874N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208457	NM_002581.5(PAPPA):c.2570C>T (p.Thr857Met)	PAPPA (T857M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208456	NM_002581.5(PAPPA):c.2114A>T (p.Glu705Val)	PAPPA (E705V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208455	NM_002581.5(PAPPA):c.1442T>A (p.Val481Asp)	PAPPA (V481D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208454	NM_002581.5(PAPPA):c.137C>T (p.Thr46Ile)	PAPPA (T46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659463	NM_002581.5(PAPPA):c.4777-5T>C	PAPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659462	NM_002581.5(PAPPA):c.4374C>T (p.Cys1458=)	PAPPA, PAPPA-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659461	NM_002581.5(PAPPA):c.4147G>A (p.Val1383Met)	PAPPA, PAPPA-AS2 (V1383M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659460	NM_002581.5(PAPPA):c.345C>T (p.Pro115=)	PAPPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622654	NM_002581.5(PAPPA):c.4678C>A (p.Pro1560Thr)	PAPPA (P1560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615102	NM_002581.5(PAPPA):c.4177C>T (p.Arg1393Trp)	PAPPA, PAPPA-AS2 (R1393W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602753	NM_002581.5(PAPPA):c.743A>G (p.Asn248Ser)	PAPPA (N248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602182	NM_002581.5(PAPPA):c.1445C>G (p.Thr482Ser)	PAPPA (T482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591522	NM_002581.5(PAPPA):c.505C>T (p.Arg169Cys)	PAPPA (R169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591275	NM_002581.5(PAPPA):c.804A>G (p.Ile268Met)	PAPPA (I268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589907	NM_002581.5(PAPPA):c.3624C>G (p.Phe1208Leu)	PAPPA, PAPPA-AS2 (F1208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561439	NM_002581.5(PAPPA):c.4564G>A (p.Val1522Met)	PAPPA (V1522M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553857	NM_002581.5(PAPPA):c.3901C>T (p.Pro1301Ser)	PAPPA, PAPPA-AS2 (P1301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547808	NM_002581.5(PAPPA):c.206G>C (p.Trp69Ser)	PAPPA (W69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547136	NM_002581.5(PAPPA):c.779A>C (p.Lys260Thr)	PAPPA (K260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544728	NM_002581.5(PAPPA):c.4048C>T (p.Pro1350Ser)	PAPPA, PAPPA-AS2 (P1350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543933	NM_002581.5(PAPPA):c.1292C>G (p.Thr431Arg)	PAPPA (T431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534395	NM_002581.5(PAPPA):c.26A>G (p.His9Arg)	PAPPA (H9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522009	NM_002581.5(PAPPA):c.259A>G (p.Thr87Ala)	PAPPA (T87A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514840	NM_002581.5(PAPPA):c.694A>T (p.Thr232Ser)	PAPPA (T232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496208	NM_002581.5(PAPPA):c.1743G>T (p.Gln581His)	PAPPA (Q581H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495665	NM_002581.5(PAPPA):c.1691T>C (p.Ile564Thr)	PAPPA (I564T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494357	NM_002581.5(PAPPA):c.1366G>T (p.Val456Leu)	PAPPA (V456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490308	NM_002581.5(PAPPA):c.1834T>C (p.Cys612Arg)	PAPPA (C612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490009	NM_002581.5(PAPPA):c.4154G>A (p.Gly1385Glu)	PAPPA, PAPPA-AS2 (G1385E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487913	NM_002581.5(PAPPA):c.2752G>A (p.Val918Met)	PAPPA (V918M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481390	NM_002581.5(PAPPA):c.3646C>A (p.Pro1216Thr)	PAPPA, PAPPA-AS2 (P1216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479781	NM_002581.5(PAPPA):c.3616G>T (p.Val1206Leu)	PAPPA, PAPPA-AS2 (V1206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472439	NM_002581.5(PAPPA):c.3155G>A (p.Arg1052Gln)	PAPPA, PAPPA-AS2 (R1052Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470244	NM_002581.5(PAPPA):c.1924G>A (p.Asp642Asn)	PAPPA (D642N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411640	NM_002581.5(PAPPA):c.4218G>T (p.Gln1406His)	PAPPA, PAPPA-AS2 (Q1406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399419	NM_002581.5(PAPPA):c.1345G>A (p.Val449Met)	PAPPA (V449M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2395079	NM_002581.5(PAPPA):c.4061A>G (p.Asn1354Ser)	PAPPA, PAPPA-AS2 (N1354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394898	NM_002581.5(PAPPA):c.2461G>A (p.Val821Ile)	PAPPA (V821I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386469	NM_002581.5(PAPPA):c.4078G>A (p.Ala1360Thr)	PAPPA, PAPPA-AS2 (A1360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379485	NM_002581.5(PAPPA):c.565C>T (p.Arg189Cys)	PAPPA (R189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379453	NM_002581.5(PAPPA):c.32G>A (p.Gly11Glu)	PAPPA (G11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364788	NM_002581.5(PAPPA):c.328G>A (p.Ala110Thr)	PAPPA (A110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353251	NM_002581.5(PAPPA):c.4738G>A (p.Gly1580Ser)	PAPPA (G1580S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353198	NM_002581.5(PAPPA):c.131C>G (p.Pro44Arg)	PAPPA (P44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338167	NM_002581.5(PAPPA):c.3473A>G (p.His1158Arg)	PAPPA, PAPPA-AS2 (H1158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335082	NM_002581.5(PAPPA):c.1114C>T (p.Arg372Cys)	PAPPA (R372C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326272	NM_002581.5(PAPPA):c.2222G>C (p.Arg741Pro)	PAPPA (R741P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319932	NM_002581.5(PAPPA):c.2930A>T (p.Gln977Leu)	PAPPA (Q977L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316043	NM_002581.5(PAPPA):c.541C>A (p.Gln181Lys)	PAPPA (Q181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315555	NM_002581.5(PAPPA):c.4457G>T (p.Ser1486Ile)	PAPPA, PAPPA-AS2 (S1486I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310786	NM_002581.5(PAPPA):c.533G>A (p.Arg178Gln)	PAPPA (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305158	NM_002581.5(PAPPA):c.2548G>A (p.Val850Met)	PAPPA (V850M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296900	NM_002581.5(PAPPA):c.305G>A (p.Arg102Gln)	PAPPA (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296011	NM_002581.5(PAPPA):c.2536G>T (p.Val846Leu)	PAPPA (V846L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294481	NM_002581.5(PAPPA):c.587G>T (p.Trp196Leu)	PAPPA (W196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290580	NM_002581.5(PAPPA):c.437A>C (p.Tyr146Ser)	PAPPA (Y146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282682	NM_002581.5(PAPPA):c.1816G>C (p.Ala606Pro)	PAPPA (A606P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280961	NM_002581.5(PAPPA):c.1717G>A (p.Val573Ile)	PAPPA (V573I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2280526	NM_002581.5(PAPPA):c.1667A>G (p.His556Arg)	PAPPA (H556R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277470	NM_002581.5(PAPPA):c.1154C>A (p.Ala385Asp)	PAPPA (A385D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272212	NM_002581.5(PAPPA):c.4163G>A (p.Arg1388Gln)	PAPPA, PAPPA-AS2 (R1388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270099	NM_002581.5(PAPPA):c.538C>G (p.Arg180Gly)	PAPPA (R180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269040	NM_002581.5(PAPPA):c.1188C>A (p.Asp396Glu)	PAPPA (D396E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268128	NM_002581.5(PAPPA):c.3694C>T (p.Arg1232Cys)	PAPPA, PAPPA-AS2 (R1232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257489	NM_002581.5(PAPPA):c.4363G>A (p.Val1455Ile)	PAPPA, PAPPA-AS2 (V1455I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251788	NM_002581.5(PAPPA):c.3875A>C (p.Gln1292Pro)	PAPPA, PAPPA-AS2 (Q1292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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