List of variants in gene HEXB reported as likely pathogenic for GM2 gangliosidosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 115

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.1082+5G>A	rs5030731	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.1417+5G>A	rs763517499	0.00002
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)	rs398123448	0.00002
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)	rs1352786910	0.00002
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.1287T>G (p.Tyr429Ter)	rs1749739842	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.1508+1G>A	rs758459585	0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	rs121907983	0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)	rs1291555996	0.00001
NM_000521.4(HEXB):c.1614-16_1622dup	rs756912360	0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)	rs938611392	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.611G>A (p.Gly204Glu)	rs762821794	0.00001
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter)	rs1749130074	0.00001
NM_000521.4(HEXB):c.778T>C (p.Tyr260His)	rs1453919511	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.965del (p.Ile322fs)	rs768438206	0.00001
NC_000005.9:g.(?_73992508)_(73992941_?)dup
NM_000521.4(HEXB):c.1015G>T (p.Glu339Ter)
NM_000521.4(HEXB):c.1015_1018del (p.Glu339fs)
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)	rs776476415
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter)	rs1749651571
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)	rs1749652247
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter)	rs1354786875
NM_000521.4(HEXB):c.1082+2T>C	rs989299922
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)	rs1361998528
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs)
NM_000521.4(HEXB):c.1169+1G>A
NM_000521.4(HEXB):c.1169+1G>C	rs2112177192
NM_000521.4(HEXB):c.1169+3_1169+10del	rs398123444
NM_000521.4(HEXB):c.118del (p.Ala40fs)	rs1554034447
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)
NM_000521.4(HEXB):c.1242+3G>T	rs778226392
NM_000521.4(HEXB):c.1263_1268del (p.Glu422_Val423del)
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter)	rs1749739842
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)	rs775920504
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.133del (p.Ala45fs)	rs1554034449
NM_000521.4(HEXB):c.1345del (p.Trp449fs)	rs1324338803
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)	rs1554036943
NM_000521.4(HEXB):c.1404del (p.Asp470fs)	rs2112180987
NM_000521.4(HEXB):c.1417+1G>T
NM_000521.4(HEXB):c.1418-12_1418del	rs1554037076
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs)
NM_000521.4(HEXB):c.1509-26G>A	rs201580118
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro)	rs121907983
NM_000521.4(HEXB):c.1520del (p.Ser507fs)	rs1554037120
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)	rs794727091
NM_000521.4(HEXB):c.1540_1541del (p.Trp514fs)
NM_000521.4(HEXB):c.1558dup (p.Arg520fs)
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.1579dup (p.Asp527fs)
NM_000521.4(HEXB):c.1600T>C (p.Cys534Arg)
NM_000521.4(HEXB):c.1611_1613+2del	rs1554037170
NM_000521.4(HEXB):c.1613+15_1613+18dup	rs779273534
NM_000521.4(HEXB):c.1614-7_1614-1dup	rs2112188865
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer)	rs2112189087
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs)	rs1749847524
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)	rs1114167287
NM_000521.4(HEXB):c.257_268delinsGC (p.Thr86fs)
NM_000521.4(HEXB):c.277del (p.Leu93fs)
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.298del (p.Arg100fs)	rs886039499
NM_000521.4(HEXB):c.299+1G>A	rs1554034505
NM_000521.4(HEXB):c.300-1G>A	rs967720287
NM_000521.4(HEXB):c.300-1G>C	rs967720287
NM_000521.4(HEXB):c.300-1_300del
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)	rs1748943719
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter)	rs1319123888
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)	rs2112135868
NM_000521.4(HEXB):c.512-1G>T	rs1554035308
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)	rs1749120310
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)	rs573447174
NM_000521.4(HEXB):c.558+1G>C	rs1198764997
NM_000521.4(HEXB):c.559-1G>A
NM_000521.4(HEXB):c.559-1G>T	rs1311903314
NM_000521.4(HEXB):c.56del (p.Leu19fs)	rs1554034423
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)
NM_000521.4(HEXB):c.626del (p.Thr209fs)
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro)	rs1749130818
NM_000521.4(HEXB):c.692_693del (p.Lys230_Phe231insTer)
NM_000521.4(HEXB):c.703C>T (p.His235Tyr)	rs1554035822
NM_000521.4(HEXB):c.705C>G (p.His235Gln)	rs2112156345
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter)	rs1749359626
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)	rs771103635
NM_000521.4(HEXB):c.771+985G>A
NM_000521.4(HEXB):c.772-2A>C
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)
NM_000521.4(HEXB):c.806del (p.Asn269fs)	rs2112171738
NM_000521.4(HEXB):c.825del (p.Ile275fs)	rs1554036523
NM_000521.4(HEXB):c.826_829del (p.Glu276fs)
NM_000521.4(HEXB):c.860del (p.Pro287fs)
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)	rs2112171931
NM_000521.4(HEXB):c.901+1dup
NM_000521.4(HEXB):c.902-1G>T	rs1554036638
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
NM_000521.4(HEXB):c.971dup (p.Thr325fs)
NM_000521.4:c.1_669del

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