NEXMIF[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1009

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 592173	t(X;3)(q13.3;q11.2)dn	NEXMIF	Translocation	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 1673315	NM_001008537.3(NEXMIF):c.4545C>T (p.Asp1515=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406261	NM_001008537.3(NEXMIF):c.4545C>G (p.Asp1515Glu)	NEXMIF (D1515E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525526	NM_001008537.3(NEXMIF):c.4531A>G (p.Ile1511Val)	NEXMIF (I1511V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162078	NM_001008537.3(NEXMIF):c.4529G>A (p.Arg1510His)	NEXMIF (R1510H)	Single nucleotide variant (missense variant)	NEXMIF-related disorder +1 more	GUncertain significance
Select item 211270	NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2897650	NM_001008537.3(NEXMIF):c.4508C>T (p.Pro1503Leu)	NEXMIF (P1503L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1126012	NM_001008537.3(NEXMIF):c.4506A>G (p.Leu1502=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1000544	NM_001008537.3(NEXMIF):c.4502T>A (p.Val1501Asp)	NEXMIF (V1501D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874067	NM_001008537.3(NEXMIF):c.4494C>T (p.Thr1498=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1799619	NM_001008537.3(NEXMIF):c.4493C>A (p.Thr1498Asn)	NEXMIF (T1498N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 648767	NM_001008537.3(NEXMIF):c.4493C>T (p.Thr1498Ile)	NEXMIF (T1498I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 833815	NM_001008537.3(NEXMIF):c.4492A>G (p.Thr1498Ala)	NEXMIF (T1498A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3061250	NM_001008537.3(NEXMIF):c.4478T>G (p.Leu1493Arg)	NEXMIF (L1493R)	Single nucleotide variant (missense variant)	NEXMIF-related disorder	GUncertain significance
Select item 1016367	NM_001008537.3(NEXMIF):c.4478T>C (p.Leu1493Pro)	NEXMIF (L1493P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931854	NM_001008537.3(NEXMIF):c.4476C>G (p.Leu1492=)	NEXMIF	Single nucleotide variant (synonymous variant)	See cases	GUncertain significance
Select item 1953819	NM_001008537.3(NEXMIF):c.4472A>G (p.Asn1491Ser)	NEXMIF (N1491S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1130192	NM_001008537.3(NEXMIF):c.4467C>T (p.Asp1489=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313198	NM_001008537.3(NEXMIF):c.4465G>A (p.Asp1489Asn)	NEXMIF (D1489N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1164219	NM_001008537.3(NEXMIF):c.4464C>T (p.Ser1488=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1141799	NM_001008537.3(NEXMIF):c.4464C>A (p.Ser1488=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 861862	NM_001008537.3(NEXMIF):c.4460A>G (p.Asp1487Gly)	NEXMIF (D1487G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304356	NM_001008537.3(NEXMIF):c.4458G>A (p.Arg1486=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1302372	NM_001008537.3(NEXMIF):c.4458-2A>G	NEXMIF	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1640885	NM_001008537.3(NEXMIF):c.4458-13G>A	NEXMIF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196979	NM_001008537.3(NEXMIF):c.4458-13G>T	NEXMIF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215717	NM_001008537.3(NEXMIF):c.4458-194A>G	NEXMIF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615942	NM_001008537.3(NEXMIF):c.4457+17A>G	NEXMIF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029114	NM_001008537.3(NEXMIF):c.4457+14A>C	NEXMIF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1442117	NM_001008537.3(NEXMIF):c.4457+1G>A	NEXMIF	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 755698	NM_001008537.3(NEXMIF):c.4449A>G (p.Glu1483=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 588550	NM_001008537.3(NEXMIF):c.4446T>G (p.Phe1482Leu)	NEXMIF (F1482L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1533358	NM_001008537.3(NEXMIF):c.4445T>C (p.Phe1482Ser)	NEXMIF (F1482S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1382681	NM_001008537.3(NEXMIF):c.4441T>C (p.Ser1481Pro)	NEXMIF (S1481P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468130	NM_001008537.3(NEXMIF):c.4439del (p.Ala1480fs)	NEXMIF (A1480fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 716580	NM_001008537.3(NEXMIF):c.4422G>A (p.Lys1474=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2881170	NM_001008537.3(NEXMIF):c.4414G>A (p.Val1472Ile)	NEXMIF (V1472I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841917	NM_001008537.3(NEXMIF):c.4408G>T (p.Glu1470Ter)	NEXMIF (E1470*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 588912	NM_001008537.3(NEXMIF):c.4406G>A (p.Arg1469Gln)	NEXMIF (R1469Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 856581	NM_001008537.3(NEXMIF):c.4405C>T (p.Arg1469Ter)	NEXMIF (R1469*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1568415	NM_001008537.3(NEXMIF):c.4404G>A (p.Glu1468=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 950259	NM_001008537.3(NEXMIF):c.4399A>G (p.Met1467Val)	NEXMIF (M1467V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030948	NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro)	NEXMIF (H1466P)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 851365	NM_001008537.3(NEXMIF):c.4382_4383del (p.Lys1461fs)	NEXMIF (K1461fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1044861	NM_001008537.3(NEXMIF):c.4380G>C (p.Glu1460Asp)	NEXMIF (E1460D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3299396	NM_001008537.3(NEXMIF):c.4377T>A (p.Asp1459Glu)	NEXMIF (D1459E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 541134	NM_001008537.3(NEXMIF):c.4368C>A (p.Ala1456=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1297644	NM_001008537.3(NEXMIF):c.4363A>C (p.Lys1455Gln)	NEXMIF (K1455Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 640014	NM_001008537.3(NEXMIF):c.4346G>A (p.Arg1449His)	NEXMIF (R1449H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2231847	NM_001008537.3(NEXMIF):c.4341G>C (p.Leu1447Phe)	NEXMIF (L1447F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435594	NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2030196	NM_001008537.3(NEXMIF):c.4337A>T (p.Lys1446Met)	NEXMIF (K1446M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588029	NM_001008537.3(NEXMIF):c.4337A>G (p.Lys1446Arg)	NEXMIF (K1446R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1620881	NM_001008537.3(NEXMIF):c.4326G>A (p.Pro1442=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857486	NM_001008537.3(NEXMIF):c.4325C>A (p.Pro1442Gln)	NEXMIF (P1442Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096936	NM_001008537.3(NEXMIF):c.4325C>G (p.Pro1442Arg)	NEXMIF (P1442R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 753341	NM_001008537.3(NEXMIF):c.4325C>T (p.Pro1442Leu)	NEXMIF (P1442L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1057207	NM_001008537.3(NEXMIF):c.4324C>T (p.Pro1442Ser)	NEXMIF (P1442S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593565	NM_001008537.3(NEXMIF):c.4322G>A (p.Gly1441Glu)	NEXMIF (G1441E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1157196	NM_001008537.3(NEXMIF):c.4321G>A (p.Gly1441Arg)	NEXMIF (G1441R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 587915	NM_001008537.3(NEXMIF):c.4320C>T (p.Asn1440=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1303626	NM_001008537.3(NEXMIF):c.4304G>A (p.Ser1435Asn)	NEXMIF (S1435N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918016	NM_001008537.3(NEXMIF):c.4303A>G (p.Ser1435Gly)	NEXMIF (S1435G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021622	NM_001008537.3(NEXMIF):c.4298A>G (p.Asn1433Ser)	NEXMIF (N1433S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999756	NM_001008537.3(NEXMIF):c.4294A>T (p.Ser1432Cys)	NEXMIF (S1432C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966881	NM_001008537.3(NEXMIF):c.4294A>G (p.Ser1432Gly)	NEXMIF (S1432G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 573180	NM_001008537.3(NEXMIF):c.4289A>C (p.Lys1430Thr)	NEXMIF (K1430T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660930	NM_001008537.3(NEXMIF):c.4284T>C (p.Asp1428=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334328	NM_001008537.3(NEXMIF):c.4275CTT[1] (p.Phe1427del)	NEXMIF (F1427del)	Microsatellite (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 1006016	NM_001008537.3(NEXMIF):c.4274C>A (p.Thr1425Asn)	NEXMIF (T1425N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439327	NM_001008537.3(NEXMIF):c.4273A>G (p.Thr1425Ala)	NEXMIF (T1425A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030947	NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe)	NEXMIF (S1424F)	Single nucleotide variant (missense variant)	X-linked intellectual disability, Cantagrel type	GUncertain significance
Select item 684546	NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)	NEXMIF (R1423H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1389964	NM_001008537.3(NEXMIF):c.4267C>T (p.Arg1423Cys)	NEXMIF (R1423C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471394	NM_001008537.3(NEXMIF):c.4258G>A (p.Glu1420Lys)	NEXMIF (E1420K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1169675	NM_001008537.3(NEXMIF):c.4257C>T (p.Asn1419=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 374403	NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs)	NEXMIF (G1417fs)	Duplication (frameshift variant)	X-linked intellectual disability, Cantagrel type	GPathogenic
Select item 211269	NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser)	NEXMIF (P1416S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 211268	NM_001008537.3(NEXMIF):c.4243A>G (p.Met1415Val)	NEXMIF (M1415V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 949168	NM_001008537.3(NEXMIF):c.4235G>T (p.Arg1412Leu)	NEXMIF (R1412L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 765449	NM_001008537.3(NEXMIF):c.4235G>A (p.Arg1412His)	NEXMIF (R1412H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 857643	NM_001008537.3(NEXMIF):c.4234C>T (p.Arg1412Cys)	NEXMIF (R1412C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1133417	NM_001008537.3(NEXMIF):c.4231G>C (p.Gly1411Arg)	NEXMIF (G1411R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 393238	NM_001008537.3(NEXMIF):c.4228C>T (p.Pro1410Ser)	NEXMIF (P1410S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1130652	NM_001008537.3(NEXMIF):c.4221A>T (p.Ile1407=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189291	NM_001008537.3(NEXMIF):c.4219A>G (p.Ile1407Val)	NEXMIF (I1407V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1466926	NM_001008537.3(NEXMIF):c.4217C>A (p.Ala1406Glu)	NEXMIF (A1406E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 474074	NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser)	NEXMIF (N1402S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1426356	NM_001008537.3(NEXMIF):c.4204A>G (p.Asn1402Asp)	NEXMIF (N1402D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802006	NM_001008537.3(NEXMIF):c.4202G>A (p.Ser1401Asn)	NEXMIF (S1401N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1419350	NM_001008537.3(NEXMIF):c.4196G>C (p.Ser1399Thr)	NEXMIF (S1399T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707146	NM_001008537.3(NEXMIF):c.4189G>C (p.Gly1397Arg)	NEXMIF (G1397R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037629	NM_001008537.3(NEXMIF):c.4189G>T (p.Gly1397Cys)	NEXMIF (G1397C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617019	NM_001008537.3(NEXMIF):c.4185C>T (p.Ile1395=)	NEXMIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 949167	NM_001008537.3(NEXMIF):c.4183A>T (p.Ile1395Phe)	NEXMIF (I1395F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1501562	NM_001008537.3(NEXMIF):c.4178G>A (p.Arg1393Lys)	NEXMIF (R1393K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1799572	NM_001008537.3(NEXMIF):c.4177A>C (p.Arg1393=)	NEXMIF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 653076	NM_001008537.3(NEXMIF):c.4177A>G (p.Arg1393Gly)	NEXMIF (R1393G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319374	NM_001008537.3(NEXMIF):c.4165A>G (p.Thr1389Ala)	NEXMIF (T1389A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886551	NM_001008537.3(NEXMIF):c.4162G>A (p.Ala1388Thr)	NEXMIF (A1388T)	Single nucleotide variant (missense variant)	not provided	GBenign

<< First< Prev

Page of 11