ClinVar Miner

List of variants in gene HEXB reported as pathogenic for cerebral lipidosis with dementia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) rs820878 0.02757
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) rs751592419 0.00002
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) rs398123448 0.00002
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) rs779453450 0.00002
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) rs778501777 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0
NC_000005.9:g.(?_73978914)_(73981242_?)del
NC_000005.9:g.(?_73980968)_(73992932_74001043)del
NC_000005.9:g.(?_73981066)_(74017020_?)del
NC_000005.9:g.(?_73981076)_(73981394_?)del
NC_000005.9:g.(?_73985143)_(74014806_?)del
NC_000005.9:g.(?_74011325)_(74017010_?)del
NG_009770.3:g.48585_63669del
NM_000521.3(HEXB):c.773del rs1373278959
NM_000521.4(HEXB):c.1010dup (p.Lys338fs) rs1579952143
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs) rs2112175206
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) rs1749651392
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1024del (p.Glu342fs) rs2112175228
NM_000521.4(HEXB):c.1082+5G>C rs5030731
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) rs1361998528
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter) rs1306678448
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs) rs1272697701
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer) rs2112177114
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)
NM_000521.4(HEXB):c.1227dup (p.Asp410Ter)
NM_000521.4(HEXB):c.1264dup (p.Glu422fs) rs2112180571
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs) rs2112180614
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs) rs2112180705
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs) rs2112180739
NM_000521.4(HEXB):c.1303del (p.Arg435fs)
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) rs761240717
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer) rs2112180944
NM_000521.4(HEXB):c.1404del (p.Asp470fs) rs2112180987
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs)
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs)
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs)
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs)
NM_000521.4(HEXB):c.1469del (p.Gly490fs)
NM_000521.4(HEXB):c.1469dup (p.Glu491fs)
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs) rs1749803258
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs)
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly) rs1554037088
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs) rs1749812910
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer)
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter) rs1460801055
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs) rs2112186316
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.201del (p.Asn68fs)
NM_000521.4(HEXB):c.283del (p.Glu95fs) rs1748845774
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.299G>C (p.Arg100Pro) rs1060499701
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) rs1748943719
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)
NM_000521.4(HEXB):c.445+1G>A rs761197472
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) rs1749049871
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) rs2112135868
NM_000521.4(HEXB):c.534_537del (p.Leu178fs)
NM_000521.4(HEXB):c.535_538del (p.Val179fs)
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.571_574del (p.Glu191fs) rs1749127843
NM_000521.4(HEXB):c.64_65del (p.Leu22fs) rs1748834145
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)
NM_000521.4(HEXB):c.731del (p.Phe244fs) rs2112156393
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.758del (p.Glu253fs)
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635
NM_000521.4(HEXB):c.76del (p.Met26fs) rs1580377105
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) rs1312009126
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter) rs1579950499
NM_000521.4(HEXB):c.875dup (p.Gly293fs)
NM_000521.4(HEXB):c.876del (p.His294fs) rs1749604779
NM_000521.4(HEXB):c.892del (p.Trp298fs)
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.916_917del (p.Leu306fs) rs2112174996
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr) rs1554036641
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter) rs1554034434
NM_000521.4(HEXB):c.973_1010del (p.Thr325fs)
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs) rs2112175171

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