Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	SNV Germline	Chr5:74718804	Pathogenic/Likely pathogenic	Sandhoff disease, juvenile form Sandhoff disease, adult form Condition: not provided Sandhoff disease See cases HEXB-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA116485	rs_28942073	17 SubmittersRCV000004082 RCV000004084 RCV000079058 RCV000174009 RCV002251870 RCV003407272 RCV004018549
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	SNV Germline	Chr5:74720648	Pathogenic/Likely pathogenic	Sandhoff disease, adult form Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA116487	rs_121907983	7 SubmittersRCV000004083 RCV000669552
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)	SNV Germline	Chr5:74720644	Pathogenic/Likely pathogenic	Sandhoff disease, chronic Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA116493	rs_121907985	5 SubmittersRCV000004088 RCV001238377
NM_000521.4(HEXB):c.1082+5G>C	SNV Germline	Chr5:74715695	Pathogenic	Sandhoff disease, infantile form	No Assertion Criteria Provided		rs_5030731	1 SubmittersRCV000004089
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)	SNV Germline	Chr5:74713584	Pathogenic	Sandhoff disease, infantile form Sandhoff disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116495	rs_121907986	13 SubmittersRCV000004091 RCV000184012 RCV000579011
NM_000521.4(HEXB):c.1243-2A>G	SNV Germline	Chr5:74718795	Pathogenic/Likely pathogenic	Condition: not provided Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA200786	rs_398123446	4 SubmittersRCV000079057 RCV000174010
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)	SNV Germline	Chr5:74721149	Conflicting classifications of pathogenicity	Condition: not provided Sandhoff disease	Criteria Provided Conflicting Classifications	CA221070	rs_398123448	2 SubmittersRCV000079062 RCV001854394
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)	SNV Germline	Chr5:74721156	Conflicting classifications of pathogenicity	Condition: not provided Sandhoff disease	Criteria Provided Conflicting Classifications	CA234120	rs_727503961	3 SubmittersRCV000153360 RCV000674784
NM_000521.4(HEXB):c.771+5G>C	SNV Germline	Chr5:74705325	Conflicting classifications of pathogenicity	Condition: not provided Sandhoff disease	Criteria Provided Conflicting Classifications	CA203234	rs_727503959	2 SubmittersRCV000179319 RCV001329340
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)	SNV Germline	Chr5:74720488	Conflicting classifications of pathogenicity	Condition: not provided Sandhoff disease	Criteria Provided Conflicting Classifications	CA200905	rs_794727049	3 SubmittersRCV000174253 RCV001323093
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)	SNV Germline	Chr5:74685430	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA360062267	rs_1114167287	3 SubmittersRCV000491131
NM_000521.4(HEXB):c.445+1G>C	SNV Germline	Chr5:74689474	Pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA10586919	rs_761197472	3 SubmittersRCV000709991
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)	SNV Germline	Chr5:74696733	Pathogenic	Condition: not provided Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA10602991	rs_573447174	5 SubmittersRCV000372047 RCV000666419
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)	SNV Germline	Chr5:74693701	Pathogenic/Likely pathogenic	Sandhoff disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3305850	rs_753823903	4 SubmittersRCV000286253 RCV000723437
NM_000521.4(HEXB):c.918G>C (p.Leu306=)	SNV Germline	Chr5:74715526	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications	CA3305985	rs_140607282	2 SubmittersRCV000311611
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)	SNV Germline	Chr5:74715643	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications	CA3306004	rs_202227927	3 SubmittersRCV000366647
NM_000521.4(HEXB):c.1082+5G>A	SNV Germline	Chr5:74715695	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA10622141	rs_5030731	7 SubmittersRCV000308357
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)	SNV Germline	Chr5:74718802	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications	CA3306090	rs_137915238	3 SubmittersRCV000363000
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)	SNV Germline	Chr5:74718971	Pathogenic/Likely pathogenic	Condition: not provided Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA3306126	rs_762892362	7 SubmittersRCV000414444 RCV000984275
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)	SNV Germline	Chr5:74713530	Pathogenic/Likely pathogenic	Condition: not provided Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA3305949	rs_373979283	5 SubmittersRCV000427051 RCV000669074
NM_000521.4(HEXB):c.299G>C (p.Arg100Pro)	SNV Germline	Chr5:74685559	Pathogenic	Sandhoff disease	No Assertion Criteria Provided	CA16609444	rs_1060499701	1 SubmittersRCV000449491
NM_000521.4(HEXB):c.778T>C (p.Tyr260His)	SNV Germline	Chr5:74713512	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter	CA360066974	rs_1453919511	1 SubmittersRCV000500181
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	SNV Germline	Chr5:74720731	Pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts	CA3306210	rs_764552042	10 SubmittersRCV000502357
NM_000521.4(HEXB):c.1509-26G>A	SNV Germline	Chr5:74720617	Pathogenic/Likely pathogenic	Sandhoff disease Inborn genetic diseases Sandhoff disease, juvenile form Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3306183	rs_201580118	10 SubmittersRCV000633008 RCV002529814 RCV002286417 RCV003153772
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)	SNV Germline	Chr5:74685406	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554034452	3 SubmittersRCV000671547
NM_000521.4(HEXB):c.902-1G>T	SNV Unknown	Chr5:74715509	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1554036638	1 SubmittersRCV000672264
NM_000521.4(HEXB):c.299+1G>A	SNV Unknown	Chr5:74685560	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1554034505	1 SubmittersRCV000664552
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)	SNV Germline	Chr5:74693641	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications		rs_938611392	3 SubmittersRCV000670728
NM_000521.4(HEXB):c.1417+5G>A	SNV Germline	Chr5:74718976	Conflicting classifications of pathogenicity	Condition: not provided Sandhoff disease	Criteria Provided Conflicting Classifications		rs_763517499	3 SubmittersRCV001310506 RCV000673197
NM_000521.4(HEXB):c.300-1G>A	SNV Germline	Chr5:74689327	Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_967720287	2 SubmittersRCV000668508
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)	SNV Germline	Chr5:74718943	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554036943	2 SubmittersRCV000673828
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)	SNV Germline	Chr5:74689361	Pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_761117459	3 SubmittersRCV000674196
NM_000521.4(HEXB):c.512-1G>T	SNV Germline	Chr5:74696692	Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554035308	2 SubmittersRCV000673291
NM_000521.4(HEXB):c.558+5G>A	SNV Germline	Chr5:74696744	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications		rs_892920643	4 SubmittersRCV000669675
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)	SNV Germline	Chr5:74718363	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1309123671	3 SubmittersRCV000674299
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)	SNV Germline	Chr5:74685420	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications		rs_778119481	3 SubmittersRCV000691227
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)	SNV Germline	Chr5:74713575	Pathogenic/Likely pathogenic	Sandhoff disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_138914144	6 SubmittersRCV000761439 RCV001562408
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)	SNV Germline	Chr5:74685558	Pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1007338250	3 SubmittersRCV000761558
NM_000521.4(HEXB):c.445+1G>A	SNV Germline	Chr5:74689474	Pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_761197472	2 SubmittersRCV000781464
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr)	SNV Germline	Chr5:74689438	Pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_779453450	2 SubmittersRCV000796892
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter)	SNV Germline	Chr5:74713573	Pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1579950499	2 SubmittersRCV000823115
NM_000521.4(HEXB):c.1269A>G (p.Val423=)	SNV Germline	Chr5:74718823	Conflicting classifications of pathogenicity	Sandhoff disease HEXB-related disorder	Criteria Provided Conflicting Classifications		rs_746407358	3 SubmittersRCV000971880 RCV003972928
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)	SNV Germline	Chr5:74685354	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1554034434	2 SubmittersRCV000985063
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)	SNV Germline	Chr5:74705310	Conflicting classifications of pathogenicity	Sandhoff disease not specified	Criteria Provided Conflicting Classifications		rs_771103635	3 SubmittersRCV000993713 RCV004526053
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)	SNV Germline	Chr5:74721171	Conflicting classifications of pathogenicity	Sandhoff disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_140627230	4 SubmittersRCV001154476 RCV000998400
NM_000521.4(HEXB):c.558+1G>C	SNV Germline	Chr5:74696740	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1198764997	3 SubmittersRCV001058264
NM_000521.4(HEXB):c.1082+2T>C	SNV Germline	Chr5:74715692	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_989299922	2 SubmittersRCV001038156
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly)	SNV Germline	Chr5:74720491	Pathogenic	Sandhoff disease, adult form	No Assertion Criteria Provided		rs_1554037088	1 SubmittersRCV001804177
NM_000521.4(HEXB):c.156G>A (p.Pro52=)	SNV Germline	Chr5:74685416	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications		rs_758965664	2 SubmittersRCV001155218
NM_000521.4(HEXB):c.1082+13C>T	SNV Germline	Chr5:74715703	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications		rs_201428805	2 SubmittersRCV001151446
NM_000521.4(HEXB):c.1083-14A>C	SNV Germline	Chr5:74716573	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications		rs_776536464	2 SubmittersRCV001151447
NM_000521.4(HEXB):c.1417+11C>T	SNV Germline	Chr5:74718982	Conflicting classifications of pathogenicity	Sandhoff disease	Criteria Provided Conflicting Classifications		rs_146572414	2 SubmittersRCV001151448
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)	SNV Germline	Chr5:74720672	Pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_778501777	2 SubmittersRCV001193758
NM_000521.4(HEXB):c.559-1G>T	SNV Germline	Chr5:74696995	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1311903314	1 SubmittersRCV001234727
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)	SNV Germline	Chr5:74720647	Conflicting classifications of pathogenicity	not specified Sandhoff disease	Criteria Provided Conflicting Classifications		rs_751592419	2 SubmittersRCV001251393 RCV001879821
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)	SNV Germline	Chr5:74689360	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1748943719	2 SubmittersRCV001264046
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)	SNV Germline	Chr5:74696710	Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1749120310	2 SubmittersRCV001264047
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter)	SNV Unknown	Chr5:74697076	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1749130074	1 SubmittersRCV001264048
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter)	SNV Unknown	Chr5:74705288	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1749359626	1 SubmittersRCV001264374
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter)	SNV Unknown	Chr5:74715632	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1749651571	1 SubmittersRCV001264375
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)	SNV Unknown	Chr5:74715647	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1749652247	1 SubmittersRCV001264376
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter)	SNV Unknown	Chr5:74715677	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1354786875	1 SubmittersRCV001264377
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)	SNV Germline	Chr5:74715690	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1361998528	2 SubmittersRCV001264378
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter)	SNV Unknown	Chr5:74718841	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1749739842	1 SubmittersRCV001264379
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter)	SNV Unknown	Chr5:74718841	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1749739842	1 SubmittersRCV001264380
NM_000521.4(HEXB):c.1242+3G>T	SNV Germline	Chr5:74718366	Likely pathogenic	Sandhoff disease	No Assertion Criteria Provided		rs_778226392	1 SubmittersRCV001264795
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)	SNV Germline	Chr5:74715665	Conflicting classifications of pathogenicity	Inborn genetic diseases Sandhoff disease	Criteria Provided Conflicting Classifications		rs_1749652995	2 SubmittersRCV001265747 RCV002541621
NM_000521.4(HEXB):c.703C>T (p.His235Tyr)	SNV Germline	Chr5:74705252	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1554035822	1 SubmittersRCV001269215
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter)	SNV Germline	Chr5:74716648	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1306678448	1 SubmittersRCV001381568
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter)	SNV Germline	Chr5:74720712	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1460801055	1 SubmittersRCV001383633
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)	SNV Germline	Chr5:74720732	Pathogenic/Likely pathogenic	Sandhoff disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1291555996	5 SubmittersRCV001732819 RCV003481126
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu)	SNV Germline	Chr5:74697048	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_762821794	1 SubmittersRCV003236447
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)	SNV Germline	Chr5:74713585	Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_1352786910	2 SubmittersRCV001797888
NM_000521.4(HEXB):c.1169+1G>C	SNV Germline	Chr5:74716674	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_2112177192	1 SubmittersRCV001984294
NM_000521.4(HEXB):c.1508+1G>A	SNV Germline	Chr5:74720519	Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_758459585	2 SubmittersRCV002015164
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro)	SNV Germline	Chr5:74697096	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1749130818	1 SubmittersRCV001932327
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)	SNV Germline	Chr5:74693645	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts		rs_2112135868	2 SubmittersRCV001902454
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr)	SNV Germline	Chr5:74715534	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1554036641	1 SubmittersRCV001928798
NM_000521.4(HEXB):c.300-1G>C	SNV Germline	Chr5:74689327	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_967720287	1 SubmittersRCV002046604
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro)	SNV Germline	Chr5:74720648	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_121907983	1 SubmittersRCV001983432
NM_000521.4(HEXB):c.705C>G (p.His235Gln)	SNV Germline	Chr5:74705254	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_2112156345	1 SubmittersRCV002038611
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)	SNV Germline	Chr5:74713606	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_2112171931	1 SubmittersRCV002038495
NM_000521.4(HEXB):c.1437A>C (p.Gln479His)	SNV Germline	Chr5:74720447	Conflicting classifications of pathogenicity	Sandhoff disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_139129900	2 SubmittersRCV002097664 RCV003007092
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter)	SNV Germline	Chr5:74693640	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter		rs_1319123888	1 SubmittersRCV002243554
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)	SNV Unknown	Chr5:74718340	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002306496
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)	SNV Unknown	Chr5:74718361	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002309962
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)	SNV Unknown	Chr5:74713519	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002309216
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)	SNV Germline	Chr5:74705287	Pathogenic/Likely pathogenic	Sandhoff disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002307327
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)	SNV Unknown	Chr5:74697054	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002310082
NM_000521.4(HEXB):c.1508+6G>C	SNV Germline	Chr5:74720524	Conflicting classifications of pathogenicity	Sandhoff disease HEXB-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003084038 RCV003963606
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)	SNV Germline	Chr5:74721149	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV003087850
NM_000521.4(HEXB):c.164C>T (p.Ala55Val)	SNV Germline	Chr5:74685424	Conflicting classifications of pathogenicity	Sandhoff disease Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002637726 RCV003162052
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)	SNV Germline	Chr5:74718337	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002740583
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)	SNV Germline	Chr5:74713628	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002819878
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)	SNV Germline	Chr5:74689437	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002833279
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)	SNV Germline	Chr5:74715545	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002875685
NM_000521.4(HEXB):c.559-1G>A	SNV Germline	Chr5:74696995	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV002923314
NM_000521.4(HEXB):c.772-2A>C	SNV Germline	Chr5:74713504	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV003503009
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)	SNV Germline	Chr5:74689467	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV003503384
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)	SNV Germline	Chr5:74713627	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV003610193
NM_000521.4(HEXB):c.1169+1G>A	SNV Germline	Chr5:74716674	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV003608832
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)	SNV Germline	Chr5:74715533	Likely pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV003609102
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)	SNV Germline	Chr5:74705256	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV003609651
NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)	SNV Germline	Chr5:74718933	Pathogenic	Sandhoff disease	Criteria Provided Single Submitter			1 SubmittersRCV003838636

NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)

SNV
Germline

Chr5:74718804

Pathogenic/Likely pathogenic

Sandhoff disease, juvenile form
Sandhoff disease, adult form
Condition: not provided
Sandhoff disease
See cases
HEXB-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA116485

rs_28942073

17 SubmittersRCV000004082 RCV000004084 RCV000079058 RCV000174009 RCV002251870 RCV003407272 RCV004018549

NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)

SNV
Germline

Chr5:74720648

Pathogenic/Likely pathogenic

Sandhoff disease, adult form
Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA116487

rs_121907983

7 SubmittersRCV000004083 RCV000669552

NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)

SNV
Germline

Chr5:74720644

Pathogenic/Likely pathogenic

Sandhoff disease, chronic
Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA116493

rs_121907985

5 SubmittersRCV000004088 RCV001238377

NM_000521.4(HEXB):c.1082+5G>C

SNV
Germline

Chr5:74715695

Pathogenic

Sandhoff disease, infantile form

No Assertion Criteria Provided

rs_5030731

1 SubmittersRCV000004089

NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)

SNV
Germline

Chr5:74713584

Pathogenic

Sandhoff disease, infantile form
Sandhoff disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116495

rs_121907986

13 SubmittersRCV000004091 RCV000184012 RCV000579011

NM_000521.4(HEXB):c.1243-2A>G

SNV
Germline

Chr5:74718795

Pathogenic/Likely pathogenic

Condition: not provided
Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA200786

rs_398123446

4 SubmittersRCV000079057 RCV000174010

NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)

SNV
Germline

Chr5:74721149

Conflicting classifications of pathogenicity

Condition: not provided
Sandhoff disease

Criteria Provided
Conflicting Classifications

CA221070

rs_398123448

2 SubmittersRCV000079062 RCV001854394

NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)

SNV
Germline

Chr5:74721156

Conflicting classifications of pathogenicity

Condition: not provided
Sandhoff disease

Criteria Provided
Conflicting Classifications

CA234120

rs_727503961

3 SubmittersRCV000153360 RCV000674784

NM_000521.4(HEXB):c.771+5G>C

SNV
Germline

Chr5:74705325

Conflicting classifications of pathogenicity

Condition: not provided
Sandhoff disease

Criteria Provided
Conflicting Classifications

CA203234

rs_727503959

2 SubmittersRCV000179319 RCV001329340

NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)

SNV
Germline

Chr5:74720488

Conflicting classifications of pathogenicity

Condition: not provided
Sandhoff disease

Criteria Provided
Conflicting Classifications

CA200905

rs_794727049

3 SubmittersRCV000174253 RCV001323093

NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)

SNV
Germline

Chr5:74685430

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA360062267

rs_1114167287

3 SubmittersRCV000491131

NM_000521.4(HEXB):c.445+1G>C

SNV
Germline

Chr5:74689474

Pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10586919

rs_761197472

3 SubmittersRCV000709991

NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)

SNV
Germline

Chr5:74696733

Pathogenic

Condition: not provided
Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10602991

rs_573447174

5 SubmittersRCV000372047 RCV000666419

NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)

SNV
Germline

Chr5:74693701

Pathogenic/Likely pathogenic

Sandhoff disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3305850

rs_753823903

4 SubmittersRCV000286253 RCV000723437

NM_000521.4(HEXB):c.918G>C (p.Leu306=)

SNV
Germline

Chr5:74715526

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

CA3305985

rs_140607282

2 SubmittersRCV000311611

NM_000521.4(HEXB):c.1035A>C (p.Pro345=)

SNV
Germline

Chr5:74715643

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

CA3306004

rs_202227927

3 SubmittersRCV000366647

NM_000521.4(HEXB):c.1082+5G>A

SNV
Germline

Chr5:74715695

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10622141

rs_5030731

7 SubmittersRCV000308357

NM_000521.4(HEXB):c.1248G>A (p.Ala416=)

SNV
Germline

Chr5:74718802

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

CA3306090

rs_137915238

3 SubmittersRCV000363000

NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)

SNV
Germline

Chr5:74718971

Pathogenic/Likely pathogenic

Condition: not provided
Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA3306126

rs_762892362

7 SubmittersRCV000414444 RCV000984275

NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)

SNV
Germline

Chr5:74713530

Pathogenic/Likely pathogenic

Condition: not provided
Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA3305949

rs_373979283

5 SubmittersRCV000427051 RCV000669074

NM_000521.4(HEXB):c.299G>C (p.Arg100Pro)

SNV
Germline

Chr5:74685559

Pathogenic

Sandhoff disease

No Assertion Criteria Provided

CA16609444

rs_1060499701

1 SubmittersRCV000449491

NM_000521.4(HEXB):c.778T>C (p.Tyr260His)

SNV
Germline

Chr5:74713512

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

CA360066974

rs_1453919511

1 SubmittersRCV000500181

NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)

SNV
Germline

Chr5:74720731

Pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

CA3306210

rs_764552042

10 SubmittersRCV000502357

NM_000521.4(HEXB):c.1509-26G>A

SNV
Germline

Chr5:74720617

Pathogenic/Likely pathogenic

Sandhoff disease
Inborn genetic diseases
Sandhoff disease, juvenile form
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3306183

rs_201580118

10 SubmittersRCV000633008 RCV002529814 RCV002286417 RCV003153772

NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)

SNV
Germline

Chr5:74685406

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554034452

3 SubmittersRCV000671547

NM_000521.4(HEXB):c.902-1G>T

SNV
Unknown

Chr5:74715509

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1554036638

1 SubmittersRCV000672264

NM_000521.4(HEXB):c.299+1G>A

SNV
Unknown

Chr5:74685560

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1554034505

1 SubmittersRCV000664552

NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)

SNV
Germline

Chr5:74693641

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_938611392

3 SubmittersRCV000670728

NM_000521.4(HEXB):c.1417+5G>A

SNV
Germline

Chr5:74718976

Conflicting classifications of pathogenicity

Condition: not provided
Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_763517499

3 SubmittersRCV001310506 RCV000673197

NM_000521.4(HEXB):c.300-1G>A

SNV
Germline

Chr5:74689327

Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_967720287

2 SubmittersRCV000668508

NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)

SNV
Germline

Chr5:74718943

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554036943

2 SubmittersRCV000673828

NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)

SNV
Germline

Chr5:74689361

Pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_761117459

3 SubmittersRCV000674196

NM_000521.4(HEXB):c.512-1G>T

SNV
Germline

Chr5:74696692

Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554035308

2 SubmittersRCV000673291

NM_000521.4(HEXB):c.558+5G>A

SNV
Germline

Chr5:74696744

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_892920643

4 SubmittersRCV000669675

NM_000521.4(HEXB):c.1242G>A (p.Lys414=)

SNV
Germline

Chr5:74718363

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1309123671

3 SubmittersRCV000674299

NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)

SNV
Germline

Chr5:74685420

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_778119481

3 SubmittersRCV000691227

NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)

SNV
Germline

Chr5:74713575

Pathogenic/Likely pathogenic

Sandhoff disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_138914144

6 SubmittersRCV000761439 RCV001562408

NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)

SNV
Germline

Chr5:74685558

Pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1007338250

3 SubmittersRCV000761558

NM_000521.4(HEXB):c.445+1G>A

SNV
Germline

Chr5:74689474

Pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_761197472

2 SubmittersRCV000781464

NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr)

SNV
Germline

Chr5:74689438

Pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_779453450

2 SubmittersRCV000796892

NM_000521.4(HEXB):c.839T>G (p.Leu280Ter)

SNV
Germline

Chr5:74713573

Pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1579950499

2 SubmittersRCV000823115

NM_000521.4(HEXB):c.1269A>G (p.Val423=)

SNV
Germline

Chr5:74718823

Conflicting classifications of pathogenicity

Sandhoff disease
HEXB-related disorder

Criteria Provided
Conflicting Classifications

rs_746407358

3 SubmittersRCV000971880 RCV003972928

NM_000521.4(HEXB):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr5:74685354

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1554034434

2 SubmittersRCV000985063

NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)

SNV
Germline

Chr5:74705310

Conflicting classifications of pathogenicity

Sandhoff disease
not specified

Criteria Provided
Conflicting Classifications

rs_771103635

3 SubmittersRCV000993713 RCV004526053

NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)

SNV
Germline

Chr5:74721171

Conflicting classifications of pathogenicity

Sandhoff disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140627230

4 SubmittersRCV001154476 RCV000998400

NM_000521.4(HEXB):c.558+1G>C

SNV
Germline

Chr5:74696740

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1198764997

3 SubmittersRCV001058264

NM_000521.4(HEXB):c.1082+2T>C

SNV
Germline

Chr5:74715692

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_989299922

2 SubmittersRCV001038156

NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly)

SNV
Germline

Chr5:74720491

Pathogenic

Sandhoff disease, adult form

No Assertion Criteria Provided

rs_1554037088

1 SubmittersRCV001804177

NM_000521.4(HEXB):c.156G>A (p.Pro52=)

SNV
Germline

Chr5:74685416

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_758965664

2 SubmittersRCV001155218

NM_000521.4(HEXB):c.1082+13C>T

SNV
Germline

Chr5:74715703

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_201428805

2 SubmittersRCV001151446

NM_000521.4(HEXB):c.1083-14A>C

SNV
Germline

Chr5:74716573

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_776536464

2 SubmittersRCV001151447

NM_000521.4(HEXB):c.1417+11C>T

SNV
Germline

Chr5:74718982

Conflicting classifications of pathogenicity

Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_146572414

2 SubmittersRCV001151448

NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)

SNV
Germline

Chr5:74720672

Pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_778501777

2 SubmittersRCV001193758

NM_000521.4(HEXB):c.559-1G>T

SNV
Germline

Chr5:74696995

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1311903314

1 SubmittersRCV001234727

NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)

SNV
Germline

Chr5:74720647

Conflicting classifications of pathogenicity

not specified
Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_751592419

2 SubmittersRCV001251393 RCV001879821

NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)

SNV
Germline

Chr5:74689360

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1748943719

2 SubmittersRCV001264046

NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)

SNV
Germline

Chr5:74696710

Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1749120310

2 SubmittersRCV001264047

NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter)

SNV
Unknown

Chr5:74697076

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1749130074

1 SubmittersRCV001264048

NM_000521.4(HEXB):c.739C>T (p.Gln247Ter)

SNV
Unknown

Chr5:74705288

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1749359626

1 SubmittersRCV001264374

NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter)

SNV
Unknown

Chr5:74715632

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1749651571

1 SubmittersRCV001264375

NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)

SNV
Unknown

Chr5:74715647

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1749652247

1 SubmittersRCV001264376

NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter)

SNV
Unknown

Chr5:74715677

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1354786875

1 SubmittersRCV001264377

NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)

SNV
Germline

Chr5:74715690

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1361998528

2 SubmittersRCV001264378

NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter)

SNV
Unknown

Chr5:74718841

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1749739842

1 SubmittersRCV001264379

NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter)

SNV
Unknown

Chr5:74718841

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1749739842

1 SubmittersRCV001264380

NM_000521.4(HEXB):c.1242+3G>T

SNV
Germline

Chr5:74718366

Likely pathogenic

Sandhoff disease

No Assertion Criteria Provided

rs_778226392

1 SubmittersRCV001264795

NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)

SNV
Germline

Chr5:74715665

Conflicting classifications of pathogenicity

Inborn genetic diseases
Sandhoff disease

Criteria Provided
Conflicting Classifications

rs_1749652995

2 SubmittersRCV001265747 RCV002541621

NM_000521.4(HEXB):c.703C>T (p.His235Tyr)

SNV
Germline

Chr5:74705252

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1554035822

1 SubmittersRCV001269215

NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter)

SNV
Germline

Chr5:74716648

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1306678448

1 SubmittersRCV001381568

NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter)

SNV
Germline

Chr5:74720712

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1460801055

1 SubmittersRCV001383633

NM_000521.4(HEXB):c.1598G>A (p.Arg533His)

SNV
Germline

Chr5:74720732

Pathogenic/Likely pathogenic

Sandhoff disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1291555996

5 SubmittersRCV001732819 RCV003481126

NM_000521.4(HEXB):c.611G>A (p.Gly204Glu)

SNV
Germline

Chr5:74697048

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_762821794

1 SubmittersRCV003236447

NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)

SNV
Germline

Chr5:74713585

Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1352786910

2 SubmittersRCV001797888

NM_000521.4(HEXB):c.1169+1G>C

SNV
Germline

Chr5:74716674

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_2112177192

1 SubmittersRCV001984294

NM_000521.4(HEXB):c.1508+1G>A

SNV
Germline

Chr5:74720519

Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_758459585

2 SubmittersRCV002015164

NM_000521.4(HEXB):c.659T>C (p.Leu220Pro)

SNV
Germline

Chr5:74697096

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1749130818

1 SubmittersRCV001932327

NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)

SNV
Germline

Chr5:74693645

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2112135868

2 SubmittersRCV001902454

NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr)

SNV
Germline

Chr5:74715534

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1554036641

1 SubmittersRCV001928798

NM_000521.4(HEXB):c.300-1G>C

SNV
Germline

Chr5:74689327

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_967720287

1 SubmittersRCV002046604

NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro)

SNV
Germline

Chr5:74720648

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_121907983

1 SubmittersRCV001983432

NM_000521.4(HEXB):c.705C>G (p.His235Gln)

SNV
Germline

Chr5:74705254

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_2112156345

1 SubmittersRCV002038611

NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)

SNV
Germline

Chr5:74713606

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_2112171931

1 SubmittersRCV002038495

NM_000521.4(HEXB):c.1437A>C (p.Gln479His)

SNV
Germline

Chr5:74720447

Conflicting classifications of pathogenicity

Sandhoff disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_139129900

2 SubmittersRCV002097664 RCV003007092

NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter)

SNV
Germline

Chr5:74693640

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

rs_1319123888

1 SubmittersRCV002243554

NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)

SNV
Unknown

Chr5:74718340

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002306496

NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)

SNV
Unknown

Chr5:74718361

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309962

NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)

SNV
Unknown

Chr5:74713519

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309216

NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)

SNV
Germline

Chr5:74705287

Pathogenic/Likely pathogenic

Sandhoff disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002307327

NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)

SNV
Unknown

Chr5:74697054

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002310082

NM_000521.4(HEXB):c.1508+6G>C

SNV
Germline

Chr5:74720524

Conflicting classifications of pathogenicity

Sandhoff disease
HEXB-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003084038 RCV003963606

NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)

SNV
Germline

Chr5:74721149

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV003087850

NM_000521.4(HEXB):c.164C>T (p.Ala55Val)

SNV
Germline

Chr5:74685424

Conflicting classifications of pathogenicity

Sandhoff disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002637726 RCV003162052

NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)

SNV
Germline

Chr5:74718337

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002740583

NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)

SNV
Germline

Chr5:74713628

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002819878

NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)

SNV
Germline

Chr5:74689437

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002833279

NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)

SNV
Germline

Chr5:74715545

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002875685

NM_000521.4(HEXB):c.559-1G>A

SNV
Germline

Chr5:74696995

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV002923314

NM_000521.4(HEXB):c.772-2A>C

SNV
Germline

Chr5:74713504

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV003503009

NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)

SNV
Germline

Chr5:74689467

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV003503384

NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)

SNV
Germline

Chr5:74713627

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV003610193

NM_000521.4(HEXB):c.1169+1G>A

SNV
Germline

Chr5:74716674

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV003608832

NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)

SNV
Germline

Chr5:74715533

Likely pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV003609102

NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)

SNV
Germline

Chr5:74705256

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV003609651

NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)

SNV
Germline

Chr5:74718933

Pathogenic

Sandhoff disease

Criteria Provided
Single Submitter

1 SubmittersRCV003838636