MAF[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 414

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 655227	NC_000016.10:g.(?_78278583)_(80589366_?)del	LOC111429607, LOC112486209 +47 more	Deletion	Cataract 21 multiple types +1 more	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	ARLNC1, ATMIN +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 149542	GRCh38/hg38 16q23.1-23.2(chr16:78923731-79507803)x3	LOC125177356, LOC126862412 +4 more	Copy number gain	See cases	GUncertain significance
Select item 545213	NC_000016.10:g.(?_79103200)_(79402155_?)del	LOC129390812, MAF +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 669924	NM_016373.4(WWOX):c.1057-292C>T	MAF, WWOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668843	NM_016373.4(WWOX):c.1057-266T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183518	NM_016373.4(WWOX):c.1057-247T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677512	NM_016373.4(WWOX):c.1057-142C>G	MAF, WWOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670869	NM_016373.4(WWOX):c.1057-40T>C	MAF, WWOX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1189403	NM_016373.4(WWOX):c.1057-23dup	MAF, WWOX	Duplication (intron variant)	not provided	GLikely benign
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)	Autosomal recessive spinocerebellar ataxia 12 +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	WWOX, MAF	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 511782	NM_016373.4(WWOX):c.1057-18_1057-17dup	MAF, WWOX	Duplication (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GLikely benign
Select item 2931344	NM_016373.4(WWOX):c.1057-13_1057-11del	MAF, WWOX	Microsatellite (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1645516	NM_016373.4(WWOX):c.1057-18T>G	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 421502	NM_016373.4(WWOX):c.1057-16del	MAF, WWOX	Deletion (intron variant)	not specified	GLikely benign
Select item 2936752	NM_016373.4(WWOX):c.1057-14_1057-13insTCTC	MAF, WWOX	Insertion (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 260736	NM_016373.4(WWOX):c.1057-14T>C	WWOX, MAF	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 28 +3 more	GBenign
Select item 2183678	NM_016373.4(WWOX):c.1057-10G>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 1425648	NM_016373.4(WWOX):c.1057-9_1057-6dup	MAF, WWOX	Duplication (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2940449	NM_016373.4(WWOX):c.1057-9G>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2932169	NM_016373.4(WWOX):c.1057-7T>C	MAF, WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 509294	NM_016373.4(WWOX):c.1057-4C>T	MAF, WWOX	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)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1381570	NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)	MAF, WWOX (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 +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2438615	NM_016373.4(WWOX):c.1060C>T (p.Gln354Ter)	MAF, WWOX (Q241* +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334431	NM_016373.4(WWOX):c.1063G>C (p.Gly355Arg)	MAF, WWOX (G242R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
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)	WWOX, MAF (A356T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +2 more	GUncertain significance
Select item 2103855	NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)	MAF, WWOX (A243V +1 more)	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1905071	NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)	MAF, WWOX (A244T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +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)	Developmental and epileptic encephalopathy, 1 +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)	Autosomal recessive spinocerebellar ataxia 12 +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)	Developmental and epileptic encephalopathy, 1 +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)	not specified +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 +2 more	GUncertain significance
Select item 2939550	NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +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)	Developmental and epileptic encephalopathy, 1 +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)	Developmental and epileptic encephalopathy, 1 +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 871671	NM_016373.4(WWOX):c.1087G>C (p.Ala363Pro)	MAF, WWOX (A363P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 (T212I)	Single nucleotide variant (missense variant +1 more)	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 (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +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)	Autosomal recessive spinocerebellar ataxia 12 +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 (S215A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +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 +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2939533	NM_016373.4(WWOX):c.1113G>A (p.Leu371=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +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)	Autosomal recessive spinocerebellar ataxia 12 +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)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 100648	NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg)	MAF, WWOX (G372R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 419331	NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)	MAF, WWOX (G372E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +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)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 2027731	NM_016373.4(WWOX):c.1119G>C (p.Gly373=)	MAF, WWOX (D218H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2646887	NM_016373.4(WWOX):c.1122G>T (p.Met374Ile)	MAF, WWOX (M261I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423818	NM_016373.4(WWOX):c.1122G>A (p.Met374Ile)	MAF, WWOX (M374I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 759793	NM_016373.4(WWOX):c.1125C>T (p.Tyr375=)	MAF, WWOX	Single nucleotide variant (synonymous variant)	WWOX-related disorder +2 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)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 1700190	NM_016373.4(WWOX):c.1129AAC[1] (p.Asn378del)	MAF, WWOX (N265del +1 more)	Microsatellite (inframe_deletion)	Neurodevelopmental delay	GPathogenic
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)	WWOX, MAF (N264S +1 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +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 +2 more	GUncertain significance
Select item 839154	NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys)	MAF, WWOX (N265C +1 more)	Indel (missense variant)	Autosomal recessive spinocerebellar ataxia 12 +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)	Malignant tumor of esophagus +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)	Inborn genetic diseases +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 1316933	NM_016373.4(WWOX):c.1141C>G (p.Arg381Gly)	MAF, WWOX (R268G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235284	NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)	MAF, WWOX (R381C +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Autosomal recessive spinocerebellar ataxia 12 +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

<< First< Prev

Page of 5