| nsv513799 |
deletion |
Sandhoff disease [RCV000004077] |
Chr5:5q13 |
pathogenic |
| NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) |
single nucleotide variant |
AllHighlyPenetrant [RCV000079063]|HEXB POLYMORPHISM [RCV000004078]|Sandhoff disease [RCV000336190]|not provided [RCV000675618]|not specified [RCV000079063] |
Chr5:74689390 [GRCh38]
Chr5:73985215 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| HEXB, 24-BP INS |
insertion |
Sandhoff disease, juvenile type [RCV000004079] |
Chr5:5q13 |
pathogenic |
| HEXB, 18-BP INS |
insertion |
HEXOSAMINIDASE B (PARIS) [RCV000004080]|Hexosaminidase B (paris) [RCV000004080] |
Chr5:5q13 |
pathogenic |
| NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) |
single nucleotide variant |
Sandhoff disease [RCV000675054]|Sandhoff disease, juvenile type [RCV000004081] |
Chr5:74718921 [GRCh38]
Chr5:74014746 [GRCh37]
Chr5:5q13.3 |
pathogenic|uncertain significance |
| NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) |
single nucleotide variant |
Sandhoff disease [RCV000174009]|Sandhoff disease, adult type [RCV000004084]|Sandhoff disease, juvenile type [RCV000004082]|not provided [RCV000079058] |
Chr5:74718804 [GRCh38]
Chr5:74014629 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) |
single nucleotide variant |
Sandhoff disease [RCV000669552]|Sandhoff disease, adult type [RCV000004083] |
Chr5:74720648 [GRCh38]
Chr5:74016473 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) |
single nucleotide variant |
HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM [RCV000004085]|not provided [RCV000079061] |
Chr5:74721131 [GRCh38]
Chr5:74016956 [GRCh37]
Chr5:5q13.3 |
benign|likely benign|other|not provided |
| NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) |
single nucleotide variant |
Sandhoff disease, infantile type [RCV000004086] |
Chr5:74685445 [GRCh38]
Chr5:73981270 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| HEXB, PARTIAL DEL |
deletion |
Sandhoff disease, infantile type [RCV000004087] |
Chr5:5q13 |
pathogenic |
| NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) |
single nucleotide variant |
Sandhoff disease, chronic [RCV000004088] |
Chr5:74720644 [GRCh38]
Chr5:74016469 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.1082+5G>C |
single nucleotide variant |
Sandhoff disease, infantile [RCV000004089] |
Chr5:74715695 [GRCh38]
Chr5:74011520 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.76del (p.Met26fs) |
deletion |
Sandhoff disease, infantile [RCV000004090] |
Chr5:74685336 [GRCh38]
Chr5:73981161 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) |
single nucleotide variant |
Sandhoff disease [RCV000184012]|Sandhoff disease, infantile [RCV000004091]|not provided [RCV000579011] |
Chr5:74713584 [GRCh38]
Chr5:74009409 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| HEXB, 1-BP DEL, 965T |
deletion |
Sandhoff disease, infantile [RCV000004092] |
Chr5:5q13 |
pathogenic |
| GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051839]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051839]|See cases [RCV000051839] |
Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1 |
pathogenic |
| NM_000521.4(HEXB):c.115del (p.Val39fs) |
deletion |
Sandhoff disease [RCV000173146]|not provided [RCV000079054] |
Chr5:74685375 [GRCh38]
Chr5:73981200 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.1169+3_1169+10del |
deletion |
not specified [RCV000079055] |
Chr5:74716676..74716683 [GRCh38]
Chr5:74012501..74012508 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1234_1238AAAGC[1] (p.Lys414fs) |
deletion |
Sandhoff disease [RCV000173703]|not provided [RCV000079056] |
Chr5:74718359..74718363 [GRCh38]
Chr5:74014184..74014188 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.1243-2A>G |
single nucleotide variant |
Sandhoff disease [RCV000174010]|not provided [RCV000079057] |
Chr5:74718795 [GRCh38]
Chr5:74014620 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_000521.4(HEXB):c.1375G>T (p.Asp459Tyr) |
single nucleotide variant |
Sandhoff disease [RCV000174011]|not provided [RCV000079059] |
Chr5:74718929 [GRCh38]
Chr5:74014754 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1614-14C>A |
single nucleotide variant |
AllHighlyPenetrant [RCV000079060]|Sandhoff disease [RCV000673104]|not specified [RCV000079060] |
Chr5:74721104 [GRCh38]
Chr5:74016929 [GRCh37]
Chr5:5q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) |
single nucleotide variant |
not specified [RCV000079062] |
Chr5:74721149 [GRCh38]
Chr5:74016974 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.587A>C (p.Asp196Ala) |
single nucleotide variant |
not specified [RCV000079064] |
Chr5:74697024 [GRCh38]
Chr5:73992849 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.619A>G (p.Ile207Val) |
single nucleotide variant |
AllHighlyPenetrant [RCV000079065]|HEXB POLYMORPHISM [RCV000235014]|Sandhoff disease [RCV000403428]|not provided [RCV000675619]|not specified [RCV000079065] |
Chr5:74697056 [GRCh38]
Chr5:73992881 [GRCh37]
Chr5:5q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000521.4(HEXB):c.772-4A>G |
single nucleotide variant |
AllHighlyPenetrant [RCV000079066]|Sandhoff disease [RCV000351167]|not provided [RCV000590368]|not specified [RCV000079066] |
Chr5:74713502 [GRCh38]
Chr5:74009327 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_000521.4(HEXB):c.797A>G (p.Tyr266Cys) |
single nucleotide variant |
Sandhoff disease [RCV000179766]|not provided [RCV000079067] |
Chr5:74713531 [GRCh38]
Chr5:74009356 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.895G>A (p.Gly299Arg) |
single nucleotide variant |
not specified [RCV000079068] |
Chr5:74713629 [GRCh38]
Chr5:74009454 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.3(HEXB):c.902-50delT |
deletion |
AllHighlyPenetrant [RCV000079069]|not specified [RCV000079069] |
Chr5:74715460 [GRCh38]
Chr5:74011285 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.1051T>C (p.Leu351=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000117218]|Sandhoff disease [RCV000397650]|not specified [RCV000117218] |
Chr5:74715659 [GRCh38]
Chr5:74011484 [GRCh37]
Chr5:5q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) |
single nucleotide variant |
AllHighlyPenetrant [RCV000117219]|Sandhoff disease [RCV000537573]|not provided [RCV000224126]|not specified [RCV000117219] |
Chr5:74685474 [GRCh38]
Chr5:73981299 [GRCh37]
Chr5:5q13.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) |
single nucleotide variant |
Sandhoff disease [RCV000174253] |
Chr5:74720488 [GRCh38]
Chr5:74016313 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs) |
duplication |
Sandhoff disease [RCV000174487] |
Chr5:74720651..74720663 [GRCh38]
Chr5:74016476..74016488 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.1531_1532GA[2] (p.Arg512fs) |
microsatellite |
Sandhoff disease [RCV000174488]|not provided [RCV000724463] |
Chr5:74720669..74720670 [GRCh38]
Chr5:74016494..74016495 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_000521.3(HEXB):c.1616_1617insTTCATGTTATCTACAGAC (p.Arg539_Gly540insSerCysTyrLeuGlnThr) |
insertion |
not provided [RCV000174689] |
Chr5:74721120..74721121 [GRCh38]
Chr5:74016945..74016946 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh38/hg38 5q13.3(chr5:74715712-74767984)x3 |
copy number gain |
See cases [RCV000141307] |
Chr5:74715712..74767984 [GRCh38]
Chr5:74011537..74063809 [GRCh37]
Chr5:74047293..74099565 [NCBI36]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) |
single nucleotide variant |
not specified [RCV000153357] |
Chr5:74685445 [GRCh38]
Chr5:73981270 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) |
single nucleotide variant |
not specified [RCV000175617] |
Chr5:74689339 [GRCh38]
Chr5:73985164 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.771+5G>C |
single nucleotide variant |
Sandhoff disease [RCV000179319]|not provided [RCV000153358] |
Chr5:74705325 [GRCh38]
Chr5:74001150 [GRCh37]
Chr5:5q13.3 |
likely pathogenic|uncertain significance |
| NM_000521.4(HEXB):c.1601G>T (p.Cys534Phe) |
single nucleotide variant |
not specified [RCV000153359] |
Chr5:74720735 [GRCh38]
Chr5:74016560 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) |
single nucleotide variant |
Sandhoff disease [RCV000674784]|not specified [RCV000153360] |
Chr5:74721156 [GRCh38]
Chr5:74016981 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001292004.1(HEXB):c.-377+8338A>G |
single nucleotide variant |
Lung cancer [RCV000096167] |
Chr5:74648896 [GRCh38]
Chr5:73944721 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) |
single nucleotide variant |
Sandhoff disease [RCV000671169]|not specified [RCV000194629] |
Chr5:74685387 [GRCh38]
Chr5:73981212 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.298del (p.Arg100fs) |
deletion |
Sandhoff disease [RCV000668469]|not provided [RCV000255439] |
Chr5:74685558 [GRCh38]
Chr5:73981383 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_000521.4(HEXB):c.1418-12_1418del |
deletion |
Sandhoff disease [RCV000669423] |
Chr5:74720416..74720428 [GRCh38]
Chr5:74016239..74016252 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) |
single nucleotide variant |
Sandhoff disease [RCV000547772]|not provided [RCV000224288]|not specified [RCV000246282] |
Chr5:74693642 [GRCh38]
Chr5:73989467 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.1559_1560GA[4] (p.Asp521fs) |
microsatellite |
Sandhoff disease [RCV000669540] |
Chr5:74720693..74720696 [GRCh38]
Chr5:74016516 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.558+5G>A |
single nucleotide variant |
Sandhoff disease [RCV000669675] |
Chr5:74696744 [GRCh38]
Chr5:73992569 [GRCh37]
Chr5:5q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000521.4(HEXB):c.118del (p.Ala40fs) |
deletion |
Sandhoff disease [RCV000669727] |
Chr5:74685378 [GRCh38]
Chr5:73981201..73981202 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.300-32C>T |
single nucleotide variant |
not specified [RCV000248560] |
Chr5:74689296 [GRCh38]
Chr5:73985121 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.902-48del |
deletion |
not specified [RCV000250878] |
Chr5:74715462 [GRCh38]
Chr5:74011287 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) |
single nucleotide variant |
Sandhoff disease [RCV000286253]|not provided [RCV000723437] |
Chr5:74693701 [GRCh38]
Chr5:73989526 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_000521.4(HEXB):c.300-46T>A |
single nucleotide variant |
not specified [RCV000251490] |
Chr5:74689282 [GRCh38]
Chr5:73985107 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.1082+26T>A |
single nucleotide variant |
not specified [RCV000247070] |
Chr5:74715716 [GRCh38]
Chr5:74011541 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) |
single nucleotide variant |
Sandhoff disease [RCV000268566]|not provided [RCV000514555]|not specified [RCV000252021] |
Chr5:74718812 [GRCh38]
Chr5:74014637 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_000521.4(HEXB):c.558+45G>A |
single nucleotide variant |
not specified [RCV000249577] |
Chr5:74696784 [GRCh38]
Chr5:73992609 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.445+1G>C |
single nucleotide variant |
Sandhoff disease [RCV000709991]|not specified [RCV000248071] |
Chr5:74689474 [GRCh38]
Chr5:73985299 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic|benign |
| NM_000521.4(HEXB):c.446-13A>G |
single nucleotide variant |
not specified [RCV000253018] |
Chr5:74693626 [GRCh38]
Chr5:73989451 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) |
single nucleotide variant |
Sandhoff disease [RCV000397655] |
Chr5:74713576 [GRCh38]
Chr5:74009401 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1248G>A (p.Ala416=) |
single nucleotide variant |
Sandhoff disease [RCV000363000] |
Chr5:74718802 [GRCh38]
Chr5:74014627 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1082+5G>A |
single nucleotide variant |
Sandhoff disease [RCV000308357] |
Chr5:74715695 [GRCh38]
Chr5:74011520 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000521.4(HEXB):c.*105T>C |
single nucleotide variant |
Sandhoff disease [RCV000278139] |
Chr5:74721280 [GRCh38]
Chr5:74017105 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) |
single nucleotide variant |
Sandhoff disease [RCV000359685] |
Chr5:74720746 [GRCh38]
Chr5:74016571 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1035A>C (p.Pro345=) |
single nucleotide variant |
Sandhoff disease [RCV000366647] |
Chr5:74715643 [GRCh38]
Chr5:74011468 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.918G>C (p.Leu306=) |
single nucleotide variant |
Sandhoff disease [RCV000311611] |
Chr5:74715526 [GRCh38]
Chr5:74011351 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.*40A>C |
single nucleotide variant |
Sandhoff disease [RCV000317974] |
Chr5:74721215 [GRCh38]
Chr5:74017040 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) |
single nucleotide variant |
Sandhoff disease [RCV000666419]|not provided [RCV000372047] |
Chr5:74696733 [GRCh38]
Chr5:73992558 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_000521.4(HEXB):c.*82_*83del |
deletion |
Sandhoff disease [RCV000372579] |
Chr5:74721257..74721258 [GRCh38]
Chr5:74017082..74017083 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_000521.4(HEXB):c.78G>A (p.Met26Ile) |
single nucleotide variant |
Sandhoff disease [RCV000281221] |
Chr5:74685338 [GRCh38]
Chr5:73981163 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.833C>T (p.Ala278Val) |
single nucleotide variant |
Sandhoff disease [RCV000784909]|not specified [RCV000312602] |
Chr5:74713567 [GRCh38]
Chr5:74009392 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1613+14del |
deletion |
Sandhoff disease [RCV000265045] |
Chr5:74720761 [GRCh38]
Chr5:74016586 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) |
deletion |
Sandhoff disease [RCV000390326]|not provided [RCV000723406] |
Chr5:74715631..74715634 [GRCh38]
Chr5:74011456..74011459 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_001292004.1(HEXB):c.-376-4193C>T |
single nucleotide variant |
Sandhoff disease [RCV000343015]|not provided [RCV000841649] |
Chr5:74685135 [GRCh38]
Chr5:73980960 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001292004.1(HEXB):c.-376-4119C>A |
single nucleotide variant |
Sandhoff disease [RCV000320555] |
Chr5:74685209 [GRCh38]
Chr5:73981034 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.670-14_670-13del |
microsatellite |
Sandhoff disease [RCV000296290] |
Chr5:74705205..74705206 [GRCh38]
Chr5:74001030..74001031 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001292004.1(HEXB):c.-376-4189del |
deletion |
Sandhoff disease [RCV000406221] |
Chr5:74685139 [GRCh38]
Chr5:73980964 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.-14G>A |
single nucleotide variant |
Sandhoff disease [RCV000375729] |
Chr5:74685247 [GRCh38]
Chr5:73981072 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.978G>C (p.Leu326=) |
single nucleotide variant |
not provided [RCV000587177] |
Chr5:74715586 [GRCh38]
Chr5:74011411 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.274_277dup (p.Leu93fs) |
duplication |
not provided [RCV000414696] |
Chr5:74685534..74685537 [GRCh38]
Chr5:73981359..73981362 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.838T>A (p.Leu280Ile) |
single nucleotide variant |
not specified [RCV000414653] |
Chr5:74713572 [GRCh38]
Chr5:74009397 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.272G>C (p.Cys91Ser) |
single nucleotide variant |
Sandhoff disease [RCV000415095] |
Chr5:74685532 [GRCh38]
Chr5:73981357 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) |
single nucleotide variant |
not provided [RCV000414444] |
Chr5:74718971 [GRCh38]
Chr5:74014796 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.299G>C (p.Arg100Pro) |
single nucleotide variant |
Sandhoff disease [RCV000449491] |
Chr5:74685559 [GRCh38]
Chr5:73981384 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| GRCh37/hg19 5q13.3(chr5:73979022-73993252)x1 |
copy number loss |
See cases [RCV000447398] |
Chr5:73979022..73993252 [GRCh37]
Chr5:5q13.3 |
conflicting data from submitters |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) |
single nucleotide variant |
Sandhoff disease [RCV000669074]|not provided [RCV000427051] |
Chr5:74713530 [GRCh38]
Chr5:74009355 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys) |
single nucleotide variant |
not specified [RCV000482174] |
Chr5:74721134 [GRCh38]
Chr5:74016959 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) |
single nucleotide variant |
Sandhoff disease [RCV000502357] |
Chr5:74720731 [GRCh38]
Chr5:74016556 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_000521.4(HEXB):c.778T>C (p.Tyr260His) |
single nucleotide variant |
Sandhoff disease [RCV000500181] |
Chr5:74713512 [GRCh38]
Chr5:74009337 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2 |
pathogenic |
| NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) |
single nucleotide variant |
Sandhoff disease [RCV000491131] |
Chr5:74685430 [GRCh38]
Chr5:73981255 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NC_000005.9:g.(?_73981066)_(73992951_?)del |
deletion |
Sandhoff disease [RCV000633009] |
Chr5:74685241..74697126 [GRCh38]
Chr5:73981066..73992951 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.902-1G>T |
single nucleotide variant |
Sandhoff disease [RCV000672264] |
Chr5:74715509 [GRCh38]
Chr5:74011334 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1614-16_1615dup |
duplication |
Sandhoff disease [RCV000674261]|not specified [RCV000596163] |
Chr5:74721102..74721119 [GRCh38]
Chr5:74016927..74016944 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) |
deletion |
Sandhoff disease [RCV000671971] |
Chr5:74685321..74685332 [GRCh38]
Chr5:73981140..73981152 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.715G>A (p.Val239Ile) |
single nucleotide variant |
Sandhoff disease [RCV000612023] |
Chr5:74705264 [GRCh38]
Chr5:74001089 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.500G>C (p.Gly167Ala) |
single nucleotide variant |
Sandhoff disease [RCV000633007] |
Chr5:74693693 [GRCh38]
Chr5:73989518 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1509-26G>A |
single nucleotide variant |
Sandhoff disease [RCV000633008] |
Chr5:74720617 [GRCh38]
Chr5:74016442 [GRCh37]
Chr5:5q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) |
single nucleotide variant |
Sandhoff disease [RCV000664782] |
Chr5:74721119 [GRCh38]
Chr5:74016944 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1417+5G>A |
single nucleotide variant |
Sandhoff disease [RCV000673197] |
Chr5:74718976 [GRCh38]
Chr5:74014801 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.299+1G>A |
single nucleotide variant |
Sandhoff disease [RCV000664552] |
Chr5:74685560 [GRCh38]
Chr5:73981385 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.230_232del (p.Phe77del) |
deletion |
Sandhoff disease [RCV000670595] |
Chr5:74685490..74685492 [GRCh38]
Chr5:73981312..73981315 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.512-3C>A |
single nucleotide variant |
Sandhoff disease [RCV000671236] |
Chr5:74696690 [GRCh38]
Chr5:73992515 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.825del (p.Ile275fs) |
deletion |
Sandhoff disease [RCV000670270] |
Chr5:74713559 [GRCh38]
Chr5:74009382..74009383 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1303_1304AG[1] (p.Arg435fs) |
microsatellite |
Sandhoff disease [RCV000669759] |
Chr5:74718859..74718860 [GRCh38]
Chr5:74014681..74014683 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1611_1613+2del |
deletion |
Sandhoff disease [RCV000665204] |
Chr5:74720745..74720749 [GRCh38]
Chr5:74016567..74016572 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) |
single nucleotide variant |
Sandhoff disease [RCV000673828] |
Chr5:74718943 [GRCh38]
Chr5:74014768 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1425_1430GAAACA[1] (p.476_477KQ[1]) |
microsatellite |
Sandhoff disease [RCV000668414] |
Chr5:74720441..74720446 [GRCh38]
Chr5:74016257..74016263 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) |
single nucleotide variant |
Sandhoff disease [RCV000671547] |
Chr5:74685406 [GRCh38]
Chr5:73981231 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) |
deletion |
Sandhoff disease [RCV000674477] |
Chr5:74685322..74685336 [GRCh38]
Chr5:73981141..73981156 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.56del (p.Leu19fs) |
deletion |
Sandhoff disease [RCV000674483] |
Chr5:74685316 [GRCh38]
Chr5:73981139..73981140 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.*4dup (p.Ter557=) |
duplication |
Sandhoff disease [RCV000667019] |
Chr5:74721179 [GRCh38]
Chr5:74016998 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.512-1G>T |
single nucleotide variant |
Sandhoff disease [RCV000673291] |
Chr5:74696692 [GRCh38]
Chr5:73992517 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) |
deletion |
Sandhoff disease [RCV000664678] |
Chr5:74685348..74685365 [GRCh38]
Chr5:73981164..73981182 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.965del (p.Ile322fs) |
deletion |
Sandhoff disease [RCV000673580] |
Chr5:74715573 [GRCh38]
Chr5:74011397..74011398 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| NM_000521.4(HEXB):c.1614-25_1614-7dup |
duplication |
Sandhoff disease [RCV000669973] |
Chr5:74721093..74721111 [GRCh38]
Chr5:74016917 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) |
single nucleotide variant |
Sandhoff disease [RCV000670728] |
Chr5:74693641 [GRCh38]
Chr5:73989466 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1613+15_1613+18dup |
duplication |
Sandhoff disease [RCV000671283] |
Chr5:74720762..74720765 [GRCh38]
Chr5:74016585 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.171del (p.Trp57fs) |
deletion |
Sandhoff disease [RCV000673881] |
Chr5:74685431 [GRCh38]
Chr5:73981254..73981255 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_032380.5(GFM2):c.2239dup (p.Thr747fs) |
duplication |
Sandhoff disease [RCV000673981] |
Chr5:74721757 [GRCh38]
Chr5:74017580 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) |
single nucleotide variant |
Sandhoff disease [RCV000674196] |
Chr5:74689361 [GRCh38]
Chr5:73985186 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter) |
single nucleotide variant |
Sandhoff disease [RCV000671110] |
Chr5:74721765 [GRCh38]
Chr5:74017590 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.133del (p.Ala45fs) |
deletion |
Sandhoff disease [RCV000667714] |
Chr5:74685393 [GRCh38]
Chr5:73981215..73981216 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1614-8_1614-6dup |
duplication |
Sandhoff disease [RCV000672849] |
Chr5:74721110..74721112 [GRCh38]
Chr5:74016934 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter) |
single nucleotide variant |
Sandhoff disease [RCV000664438] |
Chr5:74721699 [GRCh38]
Chr5:74017524 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) |
deletion |
Sandhoff disease [RCV000671549] |
Chr5:74721131..74721142 [GRCh38]
Chr5:74016954..74016966 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.300-1G>A |
single nucleotide variant |
Sandhoff disease [RCV000668508] |
Chr5:74689327 [GRCh38]
Chr5:73985152 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) |
deletion |
Sandhoff disease [RCV000667162] |
Chr5:74689371..74689379 [GRCh38]
Chr5:73985191..73985200 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) |
duplication |
Sandhoff disease [RCV000674128] |
Chr5:74720709..74720724 [GRCh38]
Chr5:74016533 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) |
deletion |
Sandhoff disease [RCV000665099] |
Chr5:74689369..74689371 [GRCh38]
Chr5:73985193..73985196 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1242G>A (p.Lys414=) |
single nucleotide variant |
Sandhoff disease [RCV000674299] |
Chr5:74718363 [GRCh38]
Chr5:74014188 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) |
deletion |
Sandhoff disease [RCV000674425] |
Chr5:74685330..74685350 [GRCh38]
Chr5:73981148..73981169 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) |
deletion |
Sandhoff disease [RCV000666620] |
Chr5:74685333..74685344 [GRCh38]
Chr5:73981152..73981164 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.1520del (p.Ser507fs) |
deletion |
Sandhoff disease [RCV000667704] |
Chr5:74720654 [GRCh38]
Chr5:74016478..74016479 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_000521.4(HEXB):c.1614-16_1622dup |
duplication |
Sandhoff disease [RCV000685380] |
Chr5:74721102..74721126 [GRCh38]
Chr5:74016927..74016951 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) |
single nucleotide variant |
Sandhoff disease [RCV000691227] |
Chr5:74685420 [GRCh38]
Chr5:73981245 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) |
single nucleotide variant |
Sandhoff disease [RCV000688835] |
Chr5:74715594 [GRCh38]
Chr5:74011419 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NC_000005.9:g.(?_73981086)_(73992931_?)del |
deletion |
Sandhoff disease [RCV000707942] |
Chr5:74685261..74697106 [GRCh38]
Chr5:73981086..73992931 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5q13.3(chr5:73980065-73993871)x1 |
copy number loss |
not provided [RCV000744855] |
Chr5:73980065..73993871 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) |
single nucleotide variant |
Sandhoff disease [RCV000761439] |
Chr5:74713575 [GRCh38]
Chr5:74009400 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) |
single nucleotide variant |
Sandhoff disease [RCV000761558] |
Chr5:74685558 [GRCh38]
Chr5:73981383 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) |
single nucleotide variant |
not specified [RCV000781465] |
Chr5:74693702 [GRCh38]
Chr5:73989527 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.445+1G>A |
single nucleotide variant |
Sandhoff disease [RCV000781464] |
Chr5:74689474 [GRCh38]
Chr5:73985299 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.3:c.-2059_669+1737del |
deletion |
Sandhoff disease [RCV000781940] |
Chr5:5q13.3 |
pathogenic |
| NC_000005.10:g.74685135C>T |
single nucleotide variant |
not provided [RCV000841649] |
Chr5:73980960 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.445+236T>C |
single nucleotide variant |
not provided [RCV000841650] |
Chr5:74689709 [GRCh38]
Chr5:73985534 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) |
single nucleotide variant |
Sandhoff disease [RCV000796892] |
Chr5:74689438 [GRCh38]
Chr5:73985263 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000521.4(HEXB):c.839T>G (p.Leu280Ter) |
single nucleotide variant |
Sandhoff disease [RCV000823115] |
Chr5:74713573 [GRCh38]
Chr5:74009398 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.1010dup (p.Lys338fs) |
duplication |
Sandhoff disease [RCV000823847] |
Chr5:74715618 [GRCh38]
Chr5:74011443 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_001292004.1(HEXB):c.-376-4450A>T |
single nucleotide variant |
not provided [RCV000840394] |
Chr5:74684878 [GRCh38]
Chr5:73980703 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.171_176delinsCCCCC (p.Trp57fs) |
indel |
Sandhoff disease [RCV000815579] |
Chr5:74685431..74685436 [GRCh38]
Chr5:73981256..73981261 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala) |
single nucleotide variant |
Sandhoff disease [RCV000790389] |
Chr5:74720458 [GRCh38]
Chr5:74016283 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 |
copy number loss |
not provided [RCV000846928] |
Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32 |
uncertain significance |
| GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 |
copy number loss |
not provided [RCV000846158] |
Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_001292004.1(HEXB):c.-376-4449T>G |
single nucleotide variant |
not provided [RCV000840396] |
Chr5:74684879 [GRCh38]
Chr5:73980704 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001292004.1(HEXB):c.-376-4354G>C |
single nucleotide variant |
not provided [RCV000840397] |
Chr5:74684974 [GRCh38]
Chr5:73980799 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.299+278G>A |
single nucleotide variant |
not provided [RCV000840399] |
Chr5:74685837 [GRCh38]
Chr5:73981662 [GRCh37]
Chr5:5q13.3 |
benign |
| NC_000005.9:g.(?_73981076)_(73992941_?)del |
deletion |
Sandhoff disease [RCV000798158] |
Chr5:74685251..74697116 [GRCh38]
Chr5:73981076..73992941 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_000521.4(HEXB):c.1417+229T>C |
single nucleotide variant |
not provided [RCV000829704] |
Chr5:74719200 [GRCh38]
Chr5:74015025 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_000521.4(HEXB):c.1625C>T (p.Ala542Val) |
single nucleotide variant |
Sandhoff disease [RCV000801007] |
Chr5:74721129 [GRCh38]
Chr5:74016954 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.3(chr5:73974274-74011878)x1 |
copy number loss |
not provided [RCV000847623] |
Chr5:73974274..74011878 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 |
copy number loss |
not provided [RCV000847565] |
Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3 |
pathogenic |
Gene-Chemical Interaction Annotations
