DMXL1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 280

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 776061	NM_001290321.3(DMXL1):c.36C>T (p.Asn12=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	DMXL1-related disorder +1 more	GBenign
Select item 2332605	NM_001290321.3(DMXL1):c.77A>G (p.Gln26Arg)	DMXL1 (Q26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034998	NM_001290321.3(DMXL1):c.264A>C (p.Leu88=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	DMXL1-related disorder	GLikely benign
Select item 2554048	NM_001290321.3(DMXL1):c.318A>T (p.Gln106His)	DMXL1 (Q106H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083219	NM_001290321.3(DMXL1):c.341A>G (p.His114Arg)	DMXL1 (H114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297755	NM_001290321.3(DMXL1):c.348A>G (p.Ile116Met)	DMXL1 (I116M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332246	NM_001290321.3(DMXL1):c.359C>T (p.Pro120Leu)	DMXL1 (P120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515224	NM_001290321.3(DMXL1):c.392A>G (p.Tyr131Cys)	DMXL1 (Y131C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3059735	NM_001290321.3(DMXL1):c.585T>G (p.Val195=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	DMXL1-related disorder	GBenign
Select item 3049987	NM_001290321.3(DMXL1):c.608G>A (p.Arg203Gln)	DMXL1 (R203Q)	Single nucleotide variant (missense variant +1 more)	DMXL1-related disorder	GBenign
Select item 2509662	NM_001290321.3(DMXL1):c.638C>T (p.Ser213Leu)	DMXL1 (S213L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713080	NM_001290321.3(DMXL1):c.651C>T (p.Ser217=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3083245	NM_001290321.3(DMXL1):c.655G>A (p.Gly219Arg)	DMXL1 (G219R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048540	NM_001290321.3(DMXL1):c.663T>G (p.Ile221Met)	DMXL1 (I221M)	Single nucleotide variant (missense variant +1 more)	DMXL1-related disorder	GLikely benign
Select item 2475751	NM_001290321.3(DMXL1):c.854A>G (p.His285Arg)	DMXL1 (H285R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590387	NM_001290321.3(DMXL1):c.886T>C (p.Phe296Leu)	DMXL1 (F296L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564508	NM_001290321.3(DMXL1):c.914G>A (p.Arg305Gln)	DMXL1 (R305Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057864	NM_001290321.3(DMXL1):c.921A>G (p.Gln307=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	DMXL1-related disorder	GLikely benign
Select item 3033146	NM_001290321.3(DMXL1):c.939T>C (p.Asn313=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	DMXL1-related disorder	GBenign
Select item 3083256	NM_001290321.3(DMXL1):c.970T>A (p.Ser324Thr)	DMXL1 (S324T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296979	NM_001290321.3(DMXL1):c.973C>G (p.Leu325Val)	DMXL1 (L325V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083257	NM_001290321.3(DMXL1):c.977C>G (p.Ala326Gly)	DMXL1 (A326G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083258	NM_001290321.3(DMXL1):c.989A>G (p.His330Arg)	DMXL1 (H330R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3030045	NM_001290321.3(DMXL1):c.996A>G (p.Gly332=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	DMXL1-related disorder	GLikely benign
Select item 2562085	NM_001290321.3(DMXL1):c.1012C>G (p.Gln338Glu)	DMXL1 (Q338E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540792	NM_001290321.3(DMXL1):c.1087A>G (p.Ile363Val)	DMXL1 (I363V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034233	NM_001290321.3(DMXL1):c.1110A>G (p.Pro370=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	DMXL1-related disorder	GBenign
Select item 780561	NM_001290321.3(DMXL1):c.1161C>T (p.Thr387=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	DMXL1-related disorder +1 more	GBenign
Select item 3083199	NM_001290321.3(DMXL1):c.1162G>A (p.Gly388Arg)	DMXL1 (G388R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083200	NM_001290321.3(DMXL1):c.1267G>C (p.Glu423Gln)	DMXL1 (E423Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 796647	NM_001290321.3(DMXL1):c.1272C>T (p.Ala424=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3083201	NM_001290321.3(DMXL1):c.1293G>T (p.Gln431His)	DMXL1 (Q431H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083202	NM_001290321.3(DMXL1):c.1304A>C (p.Lys435Thr)	DMXL1 (K435T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709226	NM_001290321.3(DMXL1):c.1315+8T>C	DMXL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 717210	NM_001290321.3(DMXL1):c.1351C>A (p.Pro451Thr)	DMXL1 (P451T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 773462	NM_001290321.3(DMXL1):c.1396A>C (p.Ser466Arg)	DMXL1 (S466R)	Single nucleotide variant (missense variant +1 more)	DMXL1-related disorder +1 more	GBenign
Select item 2232448	NM_001290321.3(DMXL1):c.1403C>T (p.Thr468Ile)	DMXL1 (T468I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321378	NM_001290321.3(DMXL1):c.1483A>T (p.Ser495Cys)	DMXL1 (S495C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083204	NM_001290321.3(DMXL1):c.1485T>G (p.Ser495Arg)	DMXL1 (S495R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083205	NM_001290321.3(DMXL1):c.1489C>T (p.His497Tyr)	DMXL1 (H497Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208740	NM_001290321.3(DMXL1):c.1559G>A (p.Arg520His)	DMXL1 (R520H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3083206	NM_001290321.3(DMXL1):c.1628G>C (p.Cys543Ser)	DMXL1 (C543S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521581	NM_001290321.3(DMXL1):c.1675A>C (p.Ile559Leu)	DMXL1 (I559L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3083207	NM_001290321.3(DMXL1):c.1723A>G (p.Met575Val)	DMXL1 (M575V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342448	NM_001290321.3(DMXL1):c.1759A>C (p.Ser587Arg)	DMXL1 (S587R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302734	NM_001290321.3(DMXL1):c.1760G>C (p.Ser587Thr)	DMXL1 (S587T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383086	NM_001290321.3(DMXL1):c.1849G>A (p.Glu617Lys)	DMXL1 (E617K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561571	NM_001290321.3(DMXL1):c.1909C>T (p.Arg637Cys)	DMXL1 (R637C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3053356	NM_001290321.3(DMXL1):c.1942G>A (p.Val648Ile)	DMXL1 (V648I)	Single nucleotide variant (missense variant +2 more)	DMXL1-related disorder	GBenign
Select item 3083208	NM_001290321.3(DMXL1):c.1988C>T (p.Thr663Ile)	DMXL1 (T663I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3083209	NM_001290321.3(DMXL1):c.2060A>G (p.Asn687Ser)	DMXL1 (N687S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621266	NM_001290321.3(DMXL1):c.2061T>A (p.Asn687Lys)	DMXL1 (N687K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3038601	NM_001290321.3(DMXL1):c.2076C>T (p.Asp692=)	DMXL1	Single nucleotide variant (synonymous variant +2 more)	DMXL1-related disorder	GLikely benign
Select item 2530044	NM_001290321.3(DMXL1):c.2080G>A (p.Ala694Thr)	DMXL1 (A694T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3083210	NM_001290321.3(DMXL1):c.2102T>A (p.Val701Asp)	DMXL1 (V701D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391648	NM_001290321.3(DMXL1):c.2108G>C (p.Ser703Thr)	DMXL1 (S703T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513975	NM_001290321.3(DMXL1):c.2387G>T (p.Gly796Val)	DMXL1 (G561V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083211	NM_001290321.3(DMXL1):c.2401A>G (p.Ile801Val)	DMXL1 (I566V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268950	NM_001290321.3(DMXL1):c.2404G>A (p.Val802Ile)	DMXL1 (V567I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368944	NM_001290321.3(DMXL1):c.2468A>G (p.His823Arg)	DMXL1 (H588R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055502	NM_001290321.3(DMXL1):c.2552G>A (p.Ser851Asn)	DMXL1 (S616N +2 more)	Single nucleotide variant (missense variant +1 more)	DMXL1-related disorder	GBenign
Select item 2242976	NM_001290321.3(DMXL1):c.2561C>T (p.Ser854Phe)	DMXL1 (S619F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376900	NM_001290321.3(DMXL1):c.2590T>G (p.Ser864Ala)	DMXL1 (S629A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3083212	NM_001290321.3(DMXL1):c.2635C>T (p.Arg879Cys)	DMXL1 (R879C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514039	NM_001290321.3(DMXL1):c.2698G>A (p.Val900Ile)	DMXL1 (V900I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3052472	NM_001290321.3(DMXL1):c.2715C>T (p.Ser905=)	DMXL1	Single nucleotide variant (synonymous variant +2 more)	DMXL1-related disorder	GBenign
Select item 3033556	NM_001290321.3(DMXL1):c.2716G>A (p.Glu906Lys)	DMXL1 (E671K +1 more)	Single nucleotide variant (missense variant +2 more)	DMXL1-related disorder	GBenign
Select item 3042044	NM_001290321.3(DMXL1):c.2721G>A (p.Ala907=)	DMXL1	Single nucleotide variant (synonymous variant +2 more)	DMXL1-related disorder	GBenign
Select item 2519898	NM_001290321.3(DMXL1):c.2741A>G (p.His914Arg)	DMXL1 (H914R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3083213	NM_001290321.3(DMXL1):c.2747C>T (p.Ser916Phe)	DMXL1 (S681F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368983	NM_001290321.3(DMXL1):c.3089T>C (p.Ile1030Thr)	DMXL1 (I795T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037232	NM_001290321.3(DMXL1):c.3115A>T (p.Ser1039Cys)	DMXL1 (S1039C +2 more)	Single nucleotide variant (missense variant +1 more)	DMXL1-related disorder	GBenign
Select item 787040	NM_001290321.3(DMXL1):c.3118A>G (p.Ile1040Val)	DMXL1 (I1040V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3083214	NM_001290321.3(DMXL1):c.3149G>A (p.Ser1050Asn)	DMXL1 (S1050N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457983	NM_001290321.3(DMXL1):c.3160A>T (p.Thr1054Ser)	DMXL1 (T1054S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083215	NM_001290321.3(DMXL1):c.3209C>G (p.Ser1070Cys)	DMXL1 (S1070C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083216	NM_001290321.3(DMXL1):c.3278T>A (p.Leu1093His)	DMXL1 (L858H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1181625	NM_001290321.3(DMXL1):c.3282G>A (p.Glu1094=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2381658	NM_001290321.3(DMXL1):c.3289A>G (p.Ile1097Val)	DMXL1 (I1097V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038837	NM_001290321.3(DMXL1):c.3299A>G (p.Asp1100Gly)	DMXL1 (D1100G +2 more)	Single nucleotide variant (missense variant +1 more)	DMXL1-related disorder	GLikely benign
Select item 3083217	NM_001290321.3(DMXL1):c.3307A>G (p.Ser1103Gly)	DMXL1 (S774G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302735	NM_001290321.3(DMXL1):c.3310A>C (p.Thr1104Pro)	DMXL1 (T1104P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489118	NM_001290321.3(DMXL1):c.3311C>T (p.Thr1104Ile)	DMXL1 (T869I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786531	NM_001290321.3(DMXL1):c.3319G>T (p.Asp1107Tyr)	DMXL1 (D1107Y +2 more)	Single nucleotide variant (missense variant +1 more)	DMXL1-related disorder +1 more	GBenign
Select item 3083218	NM_001290321.3(DMXL1):c.3343A>G (p.Asn1115Asp)	DMXL1 (N786D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396687	NM_001290321.3(DMXL1):c.3368A>T (p.Asp1123Val)	DMXL1 (D888V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275309	NM_001290321.3(DMXL1):c.3435G>A (p.Met1145Ile)	DMXL1 (M910I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717211	NM_001290321.3(DMXL1):c.3447C>T (p.Asp1149=)	DMXL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1690364	NM_001290321.3(DMXL1):c.3448G>A (p.Gly1150Ser)	DMXL1 (G1150S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2288210	NM_001290321.3(DMXL1):c.3473T>C (p.Ile1158Thr)	DMXL1 (I829T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 3