"Ambry Genetics"[submitter] AND "DMXL2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1430195	NM_001378457.1(DMXL2):c.9163C>T (p.Leu3055Phe)	DMXL2 (L2397F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2527504	NM_001378457.1(DMXL2):c.9115C>G (p.Leu3039Val)	DMXL2 (L2381V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2182851	NM_001378457.1(DMXL2):c.9080G>A (p.Gly3027Asp)	DMXL2 (G2332D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3083285	NM_001378457.1(DMXL2):c.9031A>G (p.Ile3011Val)	DMXL2 (I2316V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1387364	NM_001378457.1(DMXL2):c.8876C>T (p.Thr2959Met)	DMXL2, LOC126862131 (T2863M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1396964	NM_001378457.1(DMXL2):c.8836G>A (p.Val2946Ile)	DMXL2, LOC126862131 (V2251I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1374569	NM_001378457.1(DMXL2):c.8833C>A (p.His2945Asn)	DMXL2, LOC126862131 (H2287N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2096808	NM_001378457.1(DMXL2):c.8819G>C (p.Gly2940Ala)	DMXL2, LOC126862131 (G2844A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1991553	NM_001378457.1(DMXL2):c.8777C>T (p.Thr2926Met)	DMXL2, LOC126862131 (T2926M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2415295	NM_001378457.1(DMXL2):c.8768A>C (p.His2923Pro)	DMXL2, LOC126862131 (H2228P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1937366	NM_001378457.1(DMXL2):c.8765A>G (p.Asp2922Gly)	DMXL2, LOC126862131 (D2826G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 807261	NM_001378457.1(DMXL2):c.8701G>C (p.Val2901Leu)	DMXL2 (V2243L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2311099	NM_001378457.1(DMXL2):c.8587A>G (p.Asn2863Asp)	DMXL2 (N2168D +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2416401	NM_001378457.1(DMXL2):c.8470C>T (p.Arg2824Cys)	DMXL2 (R2129C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1954495	NM_001378457.1(DMXL2):c.8362G>A (p.Val2788Ile)	DMXL2 (V2692I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1973312	NM_001378457.1(DMXL2):c.8332A>T (p.Ser2778Cys)	DMXL2 (S2756C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2174954	NM_001378457.1(DMXL2):c.8257T>G (p.Ser2753Ala)	DMXL2 (S2731A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2185372	NM_001378457.1(DMXL2):c.8043A>T (p.Glu2681Asp)	DMXL2 (E2023D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2645340	NM_001378457.1(DMXL2):c.7994A>G (p.Glu2665Gly)	DMXL2 (E1970G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1492581	NM_001378457.1(DMXL2):c.7990G>C (p.Val2664Leu)	DMXL2 (V2642L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3083282	NM_001378457.1(DMXL2):c.7919A>G (p.Gln2640Arg)	DMXL2 (Q2544R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285056	NM_001378457.1(DMXL2):c.7878A>T (p.Gln2626His)	DMXL2 (K2559M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522811	NM_001378457.1(DMXL2):c.7813C>T (p.Arg2605Trp)	DMXL2 (R2509W +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3083281	NM_001378457.1(DMXL2):c.7711A>G (p.Asn2571Asp)	DMXL2 (N1897D +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2069296	NM_001378457.1(DMXL2):c.7709C>G (p.Pro2570Arg)	DMXL2 (P1896R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2321320	NM_001378457.1(DMXL2):c.7705C>T (p.Pro2569Ser)	DMXL2 (P1932S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1471673	NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val)	DMXL2 (M2515V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 2524801	NM_001378457.1(DMXL2):c.7511A>G (p.Asn2504Ser)	DMXL2 (N1830S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1432125	NM_001378457.1(DMXL2):c.7420G>C (p.Val2474Leu)	DMXL2 (V1800L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1442943	NM_001378457.1(DMXL2):c.7360G>A (p.Glu2454Lys)	DMXL2 (E2454K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3083279	NM_001378457.1(DMXL2):c.7334C>A (p.Ser2445Tyr)	DMXL2 (S1808Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1342372	NM_001378457.1(DMXL2):c.7312C>T (p.Pro2438Ser)	DMXL2 (P1764S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2612540	NM_001378457.1(DMXL2):c.7277T>C (p.Val2426Ala)	DMXL2 (V2345A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1600820	NM_001378457.1(DMXL2):c.7190G>A (p.Arg2397Gln)	DMXL2 (R1723Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1895568	NM_001378457.1(DMXL2):c.7165G>A (p.Gly2389Ser)	DMXL2 (G2388S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2072789	NM_001378457.1(DMXL2):c.7139G>A (p.Arg2380Gln)	DMXL2 (R1743Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1443515	NM_001378457.1(DMXL2):c.7112G>A (p.Arg2371Gln)	DMXL2 (R2371Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1438191	NM_001378457.1(DMXL2):c.6946T>C (p.Ser2316Pro)	DMXL2 (S1642P +4 more)	Single nucleotide variant (missense variant +1 more)	DMXL2-related condition +2 more	GUncertain significance
Select item 2081629	NM_001378457.1(DMXL2):c.6672G>C (p.Leu2224Phe)	DMXL2 (L2144F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3083277	NM_001378457.1(DMXL2):c.6614T>G (p.Leu2205Arg)	DMXL2 (L2125R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1437254	NM_001378457.1(DMXL2):c.6497G>A (p.Gly2166Glu)	DMXL2 (G1530E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2321986	NM_001378457.1(DMXL2):c.6449A>G (p.Lys2150Arg)	DMXL2 (K1514R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083275	NM_001378457.1(DMXL2):c.6367T>C (p.Ser2123Pro)	DMXL2 (S1450P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247446	NM_001378457.1(DMXL2):c.6345G>C (p.Met2115Ile)	DMXL2 (M1479I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542141	NM_001378457.1(DMXL2):c.6253C>T (p.His2085Tyr)	DMXL2 (H1449Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550669	NM_001378457.1(DMXL2):c.6221A>G (p.Tyr2074Cys)	DMXL2 (Y1994C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2062918	NM_001378457.1(DMXL2):c.6035A>C (p.Gln2012Pro)	DMXL2 (Q1932P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2387471	NM_001378457.1(DMXL2):c.5954C>T (p.Ala1985Val)	DMXL2 (A1312V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1984397	NM_001378457.1(DMXL2):c.5947G>A (p.Asp1983Asn)	DMXL2 (D1347N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2607760	NM_001378457.1(DMXL2):c.5855G>T (p.Trp1952Leu)	DMXL2 (W1316L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1446446	NM_001378457.1(DMXL2):c.5836G>A (p.Gly1946Arg)	DMXL2 (G1946R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2230662	NM_001378457.1(DMXL2):c.5803C>T (p.Pro1935Ser)	DMXL2 (P1262S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2184650	NM_001378457.1(DMXL2):c.5728A>G (p.Lys1910Glu)	DMXL2 (K1830E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1968994	NM_001378457.1(DMXL2):c.5720A>G (p.Lys1907Arg)	DMXL2 (K1234R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2231888	NM_001378457.1(DMXL2):c.5716T>G (p.Ser1906Ala)	DMXL2 (S1826A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403401	NM_001378457.1(DMXL2):c.5674C>T (p.His1892Tyr)	DMXL2 (H1892Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264487	NM_001378457.1(DMXL2):c.5546T>C (p.Leu1849Ser)	DMXL2 (L1769S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320287	NM_001378457.1(DMXL2):c.5545T>G (p.Leu1849Val)	DMXL2 (L1769V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494021	NM_001378457.1(DMXL2):c.5365A>G (p.Lys1789Glu)	DMXL2 (K1153E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2160001	NM_001378457.1(DMXL2):c.5360G>T (p.Ser1787Ile)	DMXL2 (S1787I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1978892	NM_001378457.1(DMXL2):c.5333G>C (p.Gly1778Ala)	DMXL2 (G1105A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2241070	NM_001378457.1(DMXL2):c.5267G>A (p.Arg1756His)	DMXL2 (R1676H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1990199	NM_001378457.1(DMXL2):c.4987G>A (p.Ala1663Thr)	DMXL2 (A1663T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3083273	NM_001378457.1(DMXL2):c.4840A>G (p.Ile1614Val)	DMXL2 (I1534V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256963	NM_001378457.1(DMXL2):c.4730C>T (p.Thr1577Ile)	DMXL2 (T1577I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285815	NM_001378457.1(DMXL2):c.4720C>T (p.Arg1574Cys)	DMXL2 (R1574C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2172280	NM_001378457.1(DMXL2):c.4319A>G (p.Asp1440Gly)	DMXL2 (D1360G +1 more)	Single nucleotide variant (intron variant +2 more)	not provided +1 more	GUncertain significance
Select item 3083271	NM_001378457.1(DMXL2):c.4262C>G (p.Thr1421Ser)	DMXL2 (T1341S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 709279	NM_001378457.1(DMXL2):c.4187C>T (p.Ser1396Phe)	DMXL2 (S1396F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2287964	NM_001378457.1(DMXL2):c.4144G>C (p.Val1382Leu)	DMXL2 (V1302L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1396921	NM_001378457.1(DMXL2):c.4016T>G (p.Val1339Gly)	DMXL2 (V1259G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1510933	NM_001378457.1(DMXL2):c.3949A>G (p.Ile1317Val)	DMXL2 (I1317V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2412271	NM_001378457.1(DMXL2):c.3914T>C (p.Met1305Thr)	DMXL2 (M1305T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1489074	NM_001378457.1(DMXL2):c.3896C>T (p.Ser1299Leu)	DMXL2 (S1299L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2240704	NM_001378457.1(DMXL2):c.3836A>G (p.Lys1279Arg)	DMXL2 (K1199R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2073068	NM_001378457.1(DMXL2):c.3790A>G (p.Met1264Val)	DMXL2 (M1264V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3083270	NM_001378457.1(DMXL2):c.3677T>C (p.Val1226Ala)	DMXL2 (V1146A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1378889	NM_001378457.1(DMXL2):c.3667A>C (p.Lys1223Gln)	DMXL2 (K1143Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2304147	NM_001378457.1(DMXL2):c.3581A>G (p.Tyr1194Cys)	DMXL2 (Y1114C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2228681	NM_001378457.1(DMXL2):c.3520G>T (p.Val1174Leu)	DMXL2 (V1174L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1910958	NM_001378457.1(DMXL2):c.3490A>T (p.Asn1164Tyr)	DMXL2 (N1164Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3083269	NM_001378457.1(DMXL2):c.3439G>A (p.Val1147Met)	DMXL2 (V1067M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2396064	NM_001378457.1(DMXL2):c.3421G>A (p.Val1141Ile)	DMXL2 (V1061I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3083268	NM_001378457.1(DMXL2):c.3391G>A (p.Val1131Ile)	DMXL2 (V1131I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1397986	NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp)	DMXL2 (E956D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1448471	NM_001378457.1(DMXL2):c.3102C>A (p.Asn1034Lys)	DMXL2 (N1034K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2330224	NM_001378457.1(DMXL2):c.3073C>T (p.Arg1025Cys)	DMXL2 (R1025C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2553892	NM_001378457.1(DMXL2):c.2846C>G (p.Ser949Cys)	DMXL2 (S869C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2461946	NM_001378457.1(DMXL2):c.2816A>G (p.Gln939Arg)	DMXL2 (Q939R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1494400	NM_001378457.1(DMXL2):c.2806G>A (p.Val936Ile)	DMXL2 (V856I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2268368	NM_001378457.1(DMXL2):c.2771C>A (p.Ala924Asp)	DMXL2 (A924D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3083267	NM_001378457.1(DMXL2):c.2705A>G (p.Asn902Ser)	DMXL2 (N822S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1938712	NM_001378457.1(DMXL2):c.2669A>T (p.Glu890Val)	DMXL2 (E890V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2543883	NM_001378457.1(DMXL2):c.2656C>G (p.Pro886Ala)	DMXL2 (P886A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607901	NM_001378457.1(DMXL2):c.2617A>G (p.Thr873Ala)	DMXL2 (T793A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485291	NM_001378457.1(DMXL2):c.2577A>G (p.Ile859Met)	DMXL2 (I779M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1984856	NM_001378457.1(DMXL2):c.2576T>C (p.Ile859Thr)	DMXL2 (I859T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3083266	NM_001378457.1(DMXL2):c.2521A>G (p.Asn841Asp)	DMXL2 (N761D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3083265	NM_001378457.1(DMXL2):c.2500A>G (p.Ile834Val)	DMXL2 (I754V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1980078	NM_001378457.1(DMXL2):c.2488C>G (p.Pro830Ala)	DMXL2 (P830A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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