ClinVar for Gene (Select 55125) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2648605	NM_032142.4(CEP192):c.7473G>A (p.Leu2491=)	CEP192	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648604	NM_032142.4(CEP192):c.582C>G (p.His194Gln)	CEP192 (H194Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621040	NM_032142.4(CEP192):c.772A>G (p.Thr258Ala)	CEP192 (T258A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618541	NM_032142.4(CEP192):c.6896A>T (p.His2299Leu)	CEP192 (H2299L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615018	NM_032142.4(CEP192):c.4060A>T (p.Thr1354Ser)	CEP192 (T1354S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614751	NM_032142.4(CEP192):c.5809G>T (p.Val1937Phe)	CEP192 (V1937F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612173	NM_032142.4(CEP192):c.4306A>G (p.Ile1436Val)	CEP192 (I1436V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609901	NM_032142.4(CEP192):c.2968C>G (p.Pro990Ala)	CEP192 (P990A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604961	NM_032142.4(CEP192):c.1556C>T (p.Ala519Val)	CEP192 (A519V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602879	NM_032142.4(CEP192):c.4241G>C (p.Ser1414Thr)	CEP192 (S1414T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599764	NM_032142.4(CEP192):c.4051T>A (p.Ser1351Thr)	CEP192 (S1351T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2560279	NM_032142.4(CEP192):c.3256G>A (p.Ala1086Thr)	CEP192 (A1086T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556790	NM_032142.4(CEP192):c.4979C>G (p.Ala1660Gly)	CEP192, LOC126862698 (A1660G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541382	NM_032142.4(CEP192):c.4276C>T (p.Arg1426Cys)	CEP192 (R1426C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539090	NM_032142.4(CEP192):c.3727A>G (p.Met1243Val)	CEP192 (M1243V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2531171	NM_032142.4(CEP192):c.3547A>G (p.Thr1183Ala)	CEP192 (T1183A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524675	NM_032142.4(CEP192):c.1459T>C (p.Tyr487His)	CEP192 (Y487H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524052	NM_032142.4(CEP192):c.2312A>T (p.Glu771Val)	CEP192 (E771V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522379	NM_032142.4(CEP192):c.337A>G (p.Asn113Asp)	CEP192 (N113D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521810	NM_032142.4(CEP192):c.5944A>G (p.Thr1982Ala)	CEP192 (T1982A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520164	NM_032142.4(CEP192):c.3790C>T (p.Arg1264Trp)	CEP192 (R1264W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516840	NM_032142.4(CEP192):c.7142C>T (p.Thr2381Met)	CEP192 (T2381M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508279	NM_032142.4(CEP192):c.2471C>T (p.Pro824Leu)	CEP192 (P824L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489957	NM_032142.4(CEP192):c.7069A>G (p.Arg2357Gly)	CEP192 (R2357G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483830	NM_032142.4(CEP192):c.668A>C (p.Tyr223Ser)	CEP192 (Y223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477570	NM_032142.4(CEP192):c.6184G>A (p.Glu2062Lys)	CEP192 (E2062K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477326	NM_032142.4(CEP192):c.7514C>T (p.Pro2505Leu)	CEP192 (P2505L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474255	NM_032142.4(CEP192):c.1913A>G (p.His638Arg)	CEP192 (H638R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464480	NM_032142.4(CEP192):c.4510G>A (p.Val1504Ile)	CEP192 (V1504I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460802	NM_032142.4(CEP192):c.3116G>C (p.Arg1039Thr)	CEP192 (R1039T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2411741	NM_032142.4(CEP192):c.2494G>A (p.Val832Ile)	CEP192 (V832I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2411740	NM_032142.4(CEP192):c.2324G>A (p.Gly775Glu)	CEP192 (G775E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397843	NM_032142.4(CEP192):c.4204C>T (p.Arg1402Cys)	CEP192 (R1402C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394022	NM_032142.4(CEP192):c.6620C>T (p.Pro2207Leu)	CEP192 (P2207L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389413	NM_032142.4(CEP192):c.110G>T (p.Gly37Val)	CEP192 (G37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378768	NM_032142.4(CEP192):c.3899C>G (p.Ala1300Gly)	CEP192 (A1300G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377482	NM_032142.4(CEP192):c.7538C>T (p.Ala2513Val)	CEP192 (A2513V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369331	NM_032142.4(CEP192):c.4352C>T (p.Ser1451Phe)	CEP192 (S1451F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364045	NM_032142.4(CEP192):c.3832C>G (p.Pro1278Ala)	CEP192 (P1278A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359887	NM_032142.4(CEP192):c.1727A>G (p.Tyr576Cys)	CEP192 (Y576C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358312	NM_032142.4(CEP192):c.7085A>G (p.Tyr2362Cys)	CEP192 (Y2362C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356428	NM_032142.4(CEP192):c.740C>T (p.Pro247Leu)	CEP192 (P247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353334	NM_032142.4(CEP192):c.6109G>T (p.Asp2037Tyr)	CEP192 (D2037Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351881	NM_032142.4(CEP192):c.197A>G (p.Glu66Gly)	CEP192 (E66G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350272	NM_032142.4(CEP192):c.7132A>G (p.Met2378Val)	CEP192 (M2378V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347762	NM_032142.4(CEP192):c.721T>C (p.Tyr241His)	CEP192 (Y241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345409	NM_032142.4(CEP192):c.5056G>A (p.Val1686Ile)	CEP192, LOC126862698 (V1686I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2341301	NM_032142.4(CEP192):c.7280G>A (p.Arg2427His)	CEP192 (R2427H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338077	NM_032142.4(CEP192):c.5555T>C (p.Met1852Thr)	CEP192 (M1852T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336599	NM_032142.4(CEP192):c.5801A>G (p.Gln1934Arg)	CEP192 (Q1934R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332751	NM_032142.4(CEP192):c.6551C>T (p.Ala2184Val)	CEP192 (A2184V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327505	NM_032142.4(CEP192):c.3821G>T (p.Ser1274Ile)	CEP192 (S1274I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327337	NM_032142.4(CEP192):c.1488A>T (p.Leu496Phe)	CEP192 (L496F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323805	NM_032142.4(CEP192):c.971T>C (p.Met324Thr)	CEP192 (M324T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317185	NM_032142.4(CEP192):c.2689G>A (p.Ala897Thr)	CEP192 (A897T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2312968	NM_032142.4(CEP192):c.2866C>T (p.Arg956Cys)	CEP192 (R956C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2312270	NM_032142.4(CEP192):c.1055G>T (p.Cys352Phe)	CEP192 (C352F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308016	NM_032142.4(CEP192):c.5998C>G (p.Leu2000Val)	CEP192 (L2000V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303154	NM_032142.4(CEP192):c.2515G>C (p.Glu839Gln)	CEP192 (E839Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298999	NM_032142.4(CEP192):c.2062A>G (p.Thr688Ala)	CEP192 (T688A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298472	NM_032142.4(CEP192):c.1750T>C (p.Phe584Leu)	CEP192 (F584L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296164	NM_032142.4(CEP192):c.4114G>T (p.Val1372Phe)	CEP192 (V1372F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295379	NM_032142.4(CEP192):c.7441C>A (p.Pro2481Thr)	CEP192 (P2481T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292158	NM_032142.4(CEP192):c.4258G>A (p.Val1420Met)	CEP192 (V1420M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291161	NM_032142.4(CEP192):c.7012A>G (p.Ile2338Val)	CEP192 (I2338V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289900	NM_032142.4(CEP192):c.4640C>T (p.Thr1547Met)	CEP192 (T1547M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2285104	NM_032142.4(CEP192):c.3205G>A (p.Glu1069Lys)	CEP192 (E1069K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284920	NM_032142.4(CEP192):c.3590A>G (p.Gln1197Arg)	CEP192 (Q1197R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284693	NM_032142.4(CEP192):c.3220A>G (p.Ile1074Val)	CEP192 (I1074V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283541	NM_032142.4(CEP192):c.3183C>A (p.Asp1061Glu)	CEP192 (D1061E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280344	NM_032142.4(CEP192):c.6613A>G (p.Met2205Val)	CEP192 (M2205V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276558	NM_032142.4(CEP192):c.3197T>A (p.Ile1066Asn)	CEP192 (I1066N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271836	NM_032142.4(CEP192):c.2351A>G (p.Tyr784Cys)	CEP192 (Y784C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268888	NM_032142.4(CEP192):c.1429G>A (p.Glu477Lys)	CEP192 (E477K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267630	NM_032142.4(CEP192):c.3410G>A (p.Ser1137Asn)	CEP192 (S1137N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260433	NM_032142.4(CEP192):c.6028A>G (p.Ile2010Val)	CEP192 (I2010V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259383	NM_032142.4(CEP192):c.2053A>G (p.Lys685Glu)	CEP192 (K685E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256323	NM_032142.4(CEP192):c.4349C>T (p.Pro1450Leu)	CEP192 (P1450L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255940	NM_032142.4(CEP192):c.5531T>G (p.Phe1844Cys)	CEP192 (F1844C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254658	NM_032142.4(CEP192):c.2627T>G (p.Val876Gly)	CEP192 (V876G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252733	NM_032142.4(CEP192):c.5213A>G (p.Tyr1738Cys)	CEP192 (Y1738C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249435	NM_032142.4(CEP192):c.4236C>A (p.Ser1412Arg)	CEP192 (S1412R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236781	NM_032142.4(CEP192):c.6441G>A (p.Met2147Ile)	CEP192 (M2147I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233409	NM_032142.4(CEP192):c.869C>T (p.Ser290Phe)	CEP192 (S290F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226736	NM_032142.4(CEP192):c.401G>A (p.Gly134Glu)	CEP192 (G134E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226206	NM_032142.4(CEP192):c.4145A>G (p.His1382Arg)	CEP192 (H1382R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223987	NM_032142.4(CEP192):c.2474T>C (p.Val825Ala)	CEP192 (V825A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223040	NM_032142.4(CEP192):c.6839C>G (p.Thr2280Ser)	CEP192 (T2280S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215183	NM_032142.4(CEP192):c.4049C>T (p.Pro1350Leu)	CEP192 (P1350L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211546	NM_032142.4(CEP192):c.6575T>A (p.Leu2192His)	CEP192 (L2192H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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