"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MAF"[ge - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 211

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 655227	NC_000016.10:g.(?_78278583)_(80589366_?)del	LOC132090434, LOC132090435 +47 more	Deletion	Cataract 21 multiple types +1 more	GPathogenic
Select item 2026794	NM_016373.4(WWOX):c.1057-22_1057-19del	MAF, WWOX	Deletion (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1661153	NM_016373.4(WWOX):c.1057-22_1057-20del	MAF, WWOX	Deletion (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1655305	NM_016373.4(WWOX):c.1057-17_1057-14del	MAF, WWOX	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2143833	NM_016373.4(WWOX):c.1057-20C>T	MAF, WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 657908	NC_000016.10:g.(?_79211588)_(79211816_?)del	MAF, WWOX	Deletion	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 511782	NM_016373.4(WWOX):c.1057-18_1057-17dup	MAF, WWOX	Duplication (intron variant)	not specified +2 more	GLikely benign
Select item 2931344	NM_016373.4(WWOX):c.1057-13_1057-11del	MAF, WWOX	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1645516	NM_016373.4(WWOX):c.1057-18T>G	MAF, WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2936752	NM_016373.4(WWOX):c.1057-14_1057-13insTCTC	MAF, WWOX	Insertion (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 260736	NM_016373.4(WWOX):c.1057-14T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 2183678	NM_016373.4(WWOX):c.1057-10G>C	MAF, WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1425648	NM_016373.4(WWOX):c.1057-9_1057-6dup	MAF, WWOX	Duplication (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2940449	NM_016373.4(WWOX):c.1057-9G>C	MAF, WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2932169	NM_016373.4(WWOX):c.1057-7T>C	MAF, WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 509294	NM_016373.4(WWOX):c.1057-4C>T	WWOX, MAF	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 571723	NM_016373.4(WWOX):c.1057-3C>T	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1418567	NM_016373.4(WWOX):c.1057-2A>G	MAF, WWOX	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1381570	NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)	WWOX, MAF (Q353* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 999242	NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys)	MAF, WWOX (Q240K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2022047	NM_016373.4(WWOX):c.1059A>C (p.Gln353His)	MAF, WWOX (Q353H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1016765	NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg)	MAF, WWOX (G242R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 391689	NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr)	MAF, WWOX (A356T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2103855	NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)	MAF, WWOX (A243V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1905071	NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)	MAF, WWOX (A244T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 582502	NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro)	MAF, WWOX (T358P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1385440	NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser)	MAF, WWOX (T245S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 540232	NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile)	MAF, WWOX (T358I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1647358	NM_016373.4(WWOX):c.1077C>G (p.Thr359=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 392079	NM_016373.4(WWOX):c.1077C>T (p.Thr359=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 540230	NM_016373.4(WWOX):c.1078G>A (p.Val360Met)	MAF, WWOX (V360M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +3 more	GUncertain significance
Select item 2939550	NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1047640	NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg)	MAF, WWOX (C362R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1046813	NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr)	MAF, WWOX (C249Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1093818	NM_016373.4(WWOX):c.1086T>C (p.Cys362=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1436911	NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly)	MAF, WWOX (A363G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2056946	NM_016373.4(WWOX):c.1102C>T (p.Leu368=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1975886	NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)	MAF, WWOX (L255R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 958916	NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs)	MAF, WWOX (L258fs +1 more)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GPathogenic/Likely pathogenic
Select item 699887	NM_016373.4(WWOX):c.1107G>A (p.Glu369=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1027321	NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser)	MAF, WWOX (G257S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1472765	NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp)	MAF, WWOX (G257D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1901906	NM_016373.4(WWOX):c.1110T>G (p.Gly370=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 759134	NM_016373.4(WWOX):c.1110T>A (p.Gly370=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1720623	NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)	MAF, WWOX (L258R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2939533	NM_016373.4(WWOX):c.1113G>A (p.Leu371=)	WWOX, MAF	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1099799	NM_016373.4(WWOX):c.1113G>T (p.Leu371=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1390703	NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg)	MAF, WWOX (G372R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 450593	NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)	MAF, WWOX (G372* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 419331	NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)	MAF, WWOX (G372E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1045361	NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg)	MAF, WWOX (G373R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 655246	NM_016373.4(WWOX):c.1118G>T (p.Gly373Val)	MAF, WWOX (G260V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2027731	NM_016373.4(WWOX):c.1119G>C (p.Gly373=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1423818	NM_016373.4(WWOX):c.1122G>A (p.Met374Ile)	MAF, WWOX (M374I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 759793	NM_016373.4(WWOX):c.1125C>T (p.Tyr375=)	WWOX, MAF	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 963804	NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu)	MAF, WWOX (F263L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1586407	NM_016373.4(WWOX):c.1128C>T (p.Phe376=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2946373	NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser)	MAF, WWOX (N264S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 540234	NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys)	MAF, WWOX (N377K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 839154	NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys)	MAF, WWOX (N265C +1 more)	Indel (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1051151	NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys)	MAF, WWOX (N265K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 383124	NM_016373.4(WWOX):c.1134C>T (p.Asn378=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 28 +5 more	GBenign/Likely benign
Select item 546347	NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr)	MAF, WWOX (C380Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1465480	NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser)	MAF, WWOX (R268S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 235284	NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)	MAF, WWOX (R381C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GBenign/Likely benign
Select item 1474460	NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro)	MAF, WWOX (R268P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 540235	NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu)	MAF, WWOX (R381L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 410089	NM_016373.4(WWOX):c.1142G>A (p.Arg381His)	MAF, WWOX (R381H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 514670	NM_016373.4(WWOX):c.1143C>T (p.Arg381=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 946158	NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr)	MAF, WWOX (C269Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 384388	NM_016373.4(WWOX):c.1146C>T (p.Cys382=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1391640	NM_016373.4(WWOX):c.1148T>C (p.Met383Thr)	MAF, WWOX (M383T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 661599	NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser)	MAF, WWOX (P271S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 845836	NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg)	MAF, WWOX (P271R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 540244	NM_016373.4(WWOX):c.1155A>C (p.Ser385=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1717306	NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser)	MAF, WWOX (P273S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 955034	NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu)	MAF, WWOX (P386L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 415949	NM_016373.4(WWOX):c.1158A>G (p.Pro386=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1023838	NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly)	MAF, WWOX (E274G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 410094	NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro)	MAF, WWOX (A388P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1356028	NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)	MAF, WWOX (Q276* +1 more)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 968139	NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu)	MAF, WWOX (Q276E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 568465	NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg)	MAF, WWOX (S390R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 415951	NM_016373.4(WWOX):c.1170C>T (p.Ser390=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 410096	NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg)	MAF, WWOX (S390R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1381921	NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln)	MAF, WWOX (E278Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 540238	NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys)	MAF, WWOX (E391K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 838781	NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly)	MAF, WWOX (E391G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1432253	NM_016373.4(WWOX):c.1175A>T (p.Glu392Val)	WWOX, MAF (E279V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1479488	NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp)	MAF, WWOX (E279D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2040940	NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg)	MAF, WWOX (T280R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 410090	NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs)	MAF, WWOX (A281fs +1 more)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 410084	NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)	MAF, WWOX (T393M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 382145	NM_016373.4(WWOX):c.1179G>A (p.Thr393=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 567630	NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr)	MAF, WWOX (A394T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2007335	NM_016373.4(WWOX):c.1182C>G (p.Ala394=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2197039	NM_016373.4(WWOX):c.1183C>A (p.Arg395=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1517395	NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp)	MAF, WWOX (R395W +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1492251	NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly)	MAF, WWOX (R282G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 645483	NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln)	MAF, WWOX (R395Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

<< First< Prev

Page of 3