NG_009770.3:g.48585_63669del |
deletion |
Sandhoff disease [RCV000004077] |
Chr5:5q13 |
pathogenic |
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) |
single nucleotide variant |
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 form [RCV000004079] |
Chr5:5q13 |
pathogenic |
HEXB, 18-BP INS |
insertion |
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 form [RCV000004081]|not specified [RCV001553740] |
Chr5:74718921 [GRCh38] Chr5:74014746 [GRCh37] Chr5:5q13.3 |
pathogenic|uncertain significance |
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) |
single nucleotide variant |
HEXB-related condition [RCV003407272]|Sandhoff disease [RCV000174009]|Sandhoff disease, adult form [RCV000004084]|Sandhoff disease, juvenile form [RCV000004082]|See cases [RCV002251870]|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 form [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]|Sandhoff disease [RCV000987527]|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 [RCV000869482]|Sandhoff disease, infantile form [RCV000004086] |
Chr5:74685445 [GRCh38] Chr5:73981270 [GRCh37] Chr5:5q13.3 |
pathogenic|benign |
NC_000005.10:g.(?_74640023)_(74705321_74713505)del |
deletion |
Sandhoff disease, infantile form [RCV000004087] |
Chr5:74640023..74705321 [GRCh38] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) |
single nucleotide variant |
Sandhoff disease [RCV001238377]|Sandhoff disease, chronic [RCV000004088] |
Chr5:74720644 [GRCh38] Chr5:74016469 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1082+5G>C |
single nucleotide variant |
Sandhoff disease, infantile form [RCV000004089] |
Chr5:74715695 [GRCh38] Chr5:74011520 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.76del (p.Met26fs) |
deletion |
Sandhoff disease [RCV002512733]|Sandhoff disease, infantile form [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 form [RCV000004091]|not provided [RCV000579011] |
Chr5:74713584 [GRCh38] Chr5:74009409 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4:c.965del |
deletion |
Sandhoff disease, infantile [RCV000004092] |
Chr5:5q13 |
pathogenic |
NM_000521.4(HEXB):c.1086A>G (p.Glu362=) |
single nucleotide variant |
Sandhoff disease [RCV001494979] |
Chr5:74716590 [GRCh38] Chr5:74012415 [GRCh37] Chr5:5q13.3 |
likely benign |
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 |
copy number gain |
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 [RCV001004173]|not provided [RCV000173146] |
Chr5:74685374 [GRCh38] Chr5:73981199 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1169+3_1169+10del |
deletion |
Sandhoff disease [RCV001028022]|not provided [RCV000079055] |
Chr5:74716675..74716682 [GRCh38] Chr5:74012500..74012507 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000521.4(HEXB):c.1239_1243del (p.Lys414fs) |
deletion |
not provided [RCV000173703] |
Chr5:74718355..74718359 [GRCh38] Chr5:74014180..74014184 [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 |
not provided [RCV000174011] |
Chr5:74718929 [GRCh38] Chr5:74014754 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1614-14C>A |
single nucleotide variant |
Sandhoff disease [RCV000673104]|not provided [RCV001310507]|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 |
Sandhoff disease [RCV001854394]|not provided [RCV000079062] |
Chr5:74721149 [GRCh38] Chr5:74016974 [GRCh37] Chr5:5q13.3 |
pathogenic|uncertain significance |
NM_000521.4(HEXB):c.587A>C (p.Asp196Ala) |
single nucleotide variant |
not provided [RCV000079064] |
Chr5:74697024 [GRCh38] Chr5:73992849 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) |
single nucleotide variant |
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 |
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 |
not provided [RCV000179766] |
Chr5:74713531 [GRCh38] Chr5:74009356 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.895G>A (p.Gly299Arg) |
single nucleotide variant |
not provided [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 |
Sandhoff disease [RCV000397650]|not provided [RCV001705832]|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 |
Sandhoff disease [RCV001082206]|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 [RCV001323093]|not provided [RCV000174253] |
Chr5:74720488 [GRCh38] Chr5:74016313 [GRCh37] Chr5:5q13.3 |
likely pathogenic|uncertain significance |
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs) |
duplication |
not provided [RCV000174487] |
Chr5:74720648..74720649 [GRCh38] Chr5:74016473..74016474 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) |
microsatellite |
Sandhoff disease [RCV000174488]|not provided [RCV000724463] |
Chr5:74720665..74720666 [GRCh38] Chr5:74016490..74016491 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
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 |
Sandhoff disease [RCV000987526]|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 |
Sandhoff disease [RCV001270125]|not provided [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 [RCV001329340]|not provided [RCV000179319] |
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 provided [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 provided [RCV000153360] |
Chr5:74721156 [GRCh38] Chr5:74016981 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|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 |
Inborn genetic diseases [RCV002517081]|Sandhoff disease [RCV000671169]|not provided [RCV003480547]|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] |
Chr5:74720415..74720427 [GRCh38] Chr5:74016240..74016252 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) |
single nucleotide variant |
Sandhoff disease [RCV001085568]|not provided [RCV000224288]|not specified [RCV000246282] |
Chr5:74693642 [GRCh38] Chr5:73989467 [GRCh37] Chr5:5q13.3 |
benign|likely benign |
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) |
microsatellite |
Sandhoff disease [RCV000669540] |
Chr5:74720691..74720692 [GRCh38] Chr5:74016516..74016517 [GRCh37] Chr5:5q13.3 |
pathogenic|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] |
Chr5:74685377 [GRCh38] Chr5:73981202 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.300-32C>T |
single nucleotide variant |
Sandhoff disease [RCV001543963]|not provided [RCV001651131]|not specified [RCV000248560] |
Chr5:74689296 [GRCh38] Chr5:73985121 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.902-48del |
deletion |
not provided [RCV001668440]|not specified [RCV000250878] |
Chr5:74715460 [GRCh38] Chr5:74011285 [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 provided [RCV001640483]|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 provided [RCV001711657]|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 |
Sandhoff disease [RCV001543965]|not provided [RCV001682982]|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] |
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 |
likely benign|conflicting interpretations of pathogenicity|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 |
Inborn genetic diseases [RCV002520382]|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 |
likely benign|conflicting interpretations of pathogenicity|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 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000521.4(HEXB):c.*40A>C |
single nucleotide variant |
Sandhoff disease [RCV000317974] |
Chr5:74721215 [GRCh38] Chr5:74017040 [GRCh37] Chr5:5q13.3 |
likely benign|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]|not provided [RCV001712155] |
Chr5:74721256..74721257 [GRCh38] Chr5:74017081..74017082 [GRCh37] Chr5:5q13.3 |
benign|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 provided [RCV000312602] |
Chr5:74713567 [GRCh38] Chr5:74009392 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1613+14del |
deletion |
Sandhoff disease [RCV000265045]|not specified [RCV001553738] |
Chr5:74720760 [GRCh38] Chr5:74016585 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) |
deletion |
Sandhoff disease [RCV000390326]|not provided [RCV000723406] |
Chr5:74715629..74715632 [GRCh38] Chr5:74011454..74011457 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val) |
single nucleotide variant |
Sandhoff disease [RCV001279184] |
Chr5:74715653 [GRCh38] Chr5:74011478 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.-126C>T |
single nucleotide variant |
Sandhoff disease [RCV000343015]|not provided [RCV000841649] |
Chr5:74685135 [GRCh38] Chr5:73980960 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.3(HEXB):c.-52C>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] |
Chr5:74705203..74705204 [GRCh38] Chr5:74001028..74001029 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000521.4(HEXB):c.-122del |
deletion |
Sandhoff disease [RCV000406221]|not provided [RCV001662363] |
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 |
Sandhoff disease [RCV000896988]|not specified [RCV000587177] |
Chr5:74715586 [GRCh38] Chr5:74011411 [GRCh37] Chr5:5q13.3 |
likely benign|uncertain significance |
NM_000521.4(HEXB):c.274_277dup (p.Leu93fs) |
duplication |
not provided [RCV000414696] |
Chr5:74685532..74685533 [GRCh38] Chr5:73981357..73981358 [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 |
Sandhoff disease [RCV000984275]|not provided [RCV000414444] |
Chr5:74718971 [GRCh38] Chr5:74014796 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
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 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys) |
single nucleotide variant |
Sandhoff disease [RCV002525932]|not provided [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|likely 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_000005.10:g.(?_74685241)_(74697126_?)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 |
Hexosaminidase B (paris) [RCV002286414]|Sandhoff disease [RCV000674261]|not provided [RCV000596163] |
Chr5:74721101..74721102 [GRCh38] Chr5:74016926..74016927 [GRCh37] Chr5:5q13.3 |
pathogenic|uncertain significance |
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) |
deletion |
Sandhoff disease [RCV000671971] |
Chr5:74685316..74685327 [GRCh38] Chr5:73981141..73981152 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) |
single nucleotide variant |
Sandhoff disease [RCV000612023]|not provided [RCV001573050]|not specified [RCV001797763] |
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 |
Inborn genetic diseases [RCV002529814]|Sandhoff disease [RCV000633008]|Sandhoff disease, juvenile form [RCV002286417]|not provided [RCV003153772] |
Chr5:74720617 [GRCh38] Chr5:74016442 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic|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]|not provided [RCV001310506] |
Chr5:74718976 [GRCh38] Chr5:74014801 [GRCh37] Chr5:5q13.3 |
likely pathogenic|conflicting interpretations of pathogenicity|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] |
Chr5:74685488..74685490 [GRCh38] Chr5:73981313..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] |
Chr5:74713558 [GRCh38] Chr5:74009383 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) |
microsatellite |
Sandhoff disease [RCV000669759] |
Chr5:74718857..74718858 [GRCh38] Chr5:74014682..74014683 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1611_1613+2del |
deletion |
Sandhoff disease [RCV000665204] |
Chr5:74720743..74720747 [GRCh38] Chr5:74016568..74016572 [GRCh37] Chr5:5q13.3 |
pathogenic|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 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1]) |
microsatellite |
Inborn genetic diseases [RCV002531197]|Sandhoff disease [RCV000668414] |
Chr5:74720433..74720438 [GRCh38] Chr5:74016258..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 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) |
deletion |
Sandhoff disease [RCV000674477] |
Chr5:74685317..74685331 [GRCh38] Chr5:73981142..73981156 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.56del (p.Leu19fs) |
deletion |
Sandhoff disease [RCV000674483] |
Chr5:74685315 [GRCh38] Chr5:73981140 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.*4dup (p.Ter557=) |
duplication |
Sandhoff disease [RCV000667019] |
Chr5:74721173..74721174 [GRCh38] Chr5:74016998..74016999 [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] |
Chr5:74685340..74685357 [GRCh38] Chr5:73981165..73981182 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.965del (p.Ile322fs) |
deletion |
Sandhoff disease [RCV000673580]|Sandhoff disease, infantile form [RCV000004092] |
Chr5:74715573 [GRCh38] Chr5:74011398 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1614-25_1614-7dup |
duplication |
Sandhoff disease [RCV000669973] |
Chr5:74721092..74721093 [GRCh38] Chr5:74016917..74016918 [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 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000521.4(HEXB):c.1613+15_1613+18dup |
duplication |
Sandhoff disease [RCV000671283] |
Chr5:74720760..74720761 [GRCh38] Chr5:74016585..74016586 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000521.4(HEXB):c.171del (p.Trp57fs) |
deletion |
Sandhoff disease [RCV000673881] |
Chr5:74685430 [GRCh38] Chr5:73981255 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_032380.5(GFM2):c.2239dup (p.Thr747fs) |
duplication |
Sandhoff disease [RCV000673981] |
Chr5:74721755..74721756 [GRCh38] Chr5:74017580..74017581 [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] |
Chr5:74685391 [GRCh38] Chr5:73981216 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1614-8_1614-6dup |
duplication |
Sandhoff disease [RCV000672849] |
Chr5:74721109..74721110 [GRCh38] Chr5:74016934..74016935 [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] |
Chr5:74721130..74721141 [GRCh38] Chr5:74016955..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] |
Chr5:74689367..74689375 [GRCh38] Chr5:73985192..73985200 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) |
duplication |
Sandhoff disease [RCV000674128] |
Chr5:74720708..74720709 [GRCh38] Chr5:74016533..74016534 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) |
deletion |
Sandhoff disease [RCV000665099] |
Chr5:74689369..74689371 [GRCh38] Chr5:73985194..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 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) |
deletion |
Sandhoff disease [RCV000674425] |
Chr5:74685324..74685344 [GRCh38] Chr5:73981149..73981169 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) |
deletion |
Sandhoff disease [RCV000666620] |
Chr5:74685328..74685339 [GRCh38] Chr5:73981153..73981164 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1520del (p.Ser507fs) |
deletion |
Sandhoff disease [RCV000667704] |
Chr5:74720654 [GRCh38] Chr5:74016479 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1614-16_1622dup |
duplication |
Sandhoff disease [RCV000685380]|not provided [RCV001756151] |
Chr5:74721101..74721102 [GRCh38] Chr5:74016926..74016927 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|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 |
likely benign|conflicting interpretations of pathogenicity|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_000005.10:g.(?_74685261)_(74697106_?)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.1082+301T>G |
single nucleotide variant |
not provided [RCV001679024] |
Chr5:74715991 [GRCh38] Chr5:74011816 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.300-240A>G |
single nucleotide variant |
not provided [RCV001612627] |
Chr5:74689088 [GRCh38] Chr5:73984913 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1082+7T>A |
single nucleotide variant |
Sandhoff disease [RCV001462715] |
Chr5:74715697 [GRCh38] Chr5:74011522 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.772-310G>A |
single nucleotide variant |
not provided [RCV001648055] |
Chr5:74713196 [GRCh38] Chr5:74009021 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) |
single nucleotide variant |
Sandhoff disease [RCV000761439]|not provided [RCV001562408] |
Chr5:74713575 [GRCh38] Chr5:74009400 [GRCh37] Chr5:5q13.3 |
pathogenic|likely 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.512-112T>G |
single nucleotide variant |
Sandhoff disease [RCV001543964]|not provided [RCV001685483] |
Chr5:74696581 [GRCh38] Chr5:73992406 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1082+26del |
deletion |
not provided [RCV001547409] |
Chr5:74715714 [GRCh38] Chr5:74011539 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.42G>A (p.Leu14=) |
single nucleotide variant |
Sandhoff disease [RCV000975338] |
Chr5:74685302 [GRCh38] Chr5:73981127 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1269A>G (p.Val423=) |
single nucleotide variant |
Sandhoff disease [RCV000971880] |
Chr5:74718823 [GRCh38] Chr5:74014648 [GRCh37] Chr5:5q13.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000521.4(HEXB):c.1418-5T>C |
single nucleotide variant |
Sandhoff disease [RCV000928841] |
Chr5:74720423 [GRCh38] Chr5:74016248 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1029G>A (p.Val343=) |
single nucleotide variant |
Sandhoff disease [RCV001461343] |
Chr5:74715637 [GRCh38] Chr5:74011462 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro) |
single nucleotide variant |
Sandhoff disease [RCV001048153]|not provided [RCV001759974] |
Chr5:74721141 [GRCh38] Chr5:74016966 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly) |
single nucleotide variant |
Sandhoff disease, adult form [RCV001804177] |
Chr5:74720491 [GRCh38] Chr5:74016316 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.64_65del (p.Leu22fs) |
deletion |
Sandhoff disease [RCV001067035] |
Chr5:74685324..74685325 [GRCh38] Chr5:73981149..73981150 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1082+2T>C |
single nucleotide variant |
Sandhoff disease [RCV001038156] |
Chr5:74715692 [GRCh38] Chr5:74011517 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) |
single nucleotide variant |
Sandhoff disease [RCV001271416]|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 |
NM_000521.4(HEXB):c.16C>T (p.Leu6=) |
single nucleotide variant |
Sandhoff disease [RCV001475160] |
Chr5:74685276 [GRCh38] Chr5:73981101 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.150C>T (p.Ala50=) |
single nucleotide variant |
Sandhoff disease [RCV001274211] |
Chr5:74685410 [GRCh38] Chr5:73981235 [GRCh37] Chr5:5q13.3 |
likely benign|uncertain significance |
NM_000521.4(HEXB):c.69G>A (p.Leu23=) |
single nucleotide variant |
Sandhoff disease [RCV001437280]|not provided [RCV003424483] |
Chr5:74685329 [GRCh38] Chr5:73981154 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1243-6T>C |
single nucleotide variant |
Sandhoff disease [RCV000872703]|not specified [RCV001175477] |
Chr5:74718791 [GRCh38] Chr5:74014616 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) |
single nucleotide variant |
Sandhoff disease [RCV000919377] |
Chr5:74720706 [GRCh38] Chr5:74016531 [GRCh37] Chr5:5q13.3 |
likely benign |
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.1614-4A>G |
single nucleotide variant |
Sandhoff disease [RCV000937001] |
Chr5:74721114 [GRCh38] Chr5:74016939 [GRCh37] Chr5:5q13.3 |
likely 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 |
pathogenic|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] |
Chr5:74715613..74715614 [GRCh38] Chr5:74011438..74011439 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_001292004.2(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 |
NM_000521.4(HEXB):c.1083-14A>C |
single nucleotide variant |
Sandhoff disease [RCV001151447] |
Chr5:74716573 [GRCh38] Chr5:74012398 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|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_000521.4(HEXB):c.383T>G (p.Leu128Arg) |
single nucleotide variant |
Sandhoff disease [RCV000872361]|not provided [RCV003457882] |
Chr5:74689411 [GRCh38] Chr5:73985236 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_001292004.2(HEXB):c.-376-4449T>G |
single nucleotide variant |
not provided [RCV000840396] |
Chr5:74684879 [GRCh38] Chr5:73980704 [GRCh37] Chr5:5q13.3 |
benign |
NM_001292004.2(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_000005.10:g.(?_74685251)_(74697116_?)del |
deletion |
Sandhoff disease [RCV000798158] |
Chr5:74685251..74697116 [GRCh38] Chr5:73981076..73992941 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.672T>C (p.Asp224=) |
single nucleotide variant |
Sandhoff disease [RCV001274212] |
Chr5:74705221 [GRCh38] Chr5:74001046 [GRCh37] Chr5:5q13.3 |
likely benign|uncertain significance |
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 |
NM_000521.4(HEXB):c.1345del (p.Trp449fs) |
deletion |
Sandhoff disease [RCV001194423] |
Chr5:74718898 [GRCh38] Chr5:74014723 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) |
single nucleotide variant |
Sandhoff disease [RCV001154476]|not provided [RCV000998400] |
Chr5:74721171 [GRCh38] Chr5:74016996 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|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 5q13.2-15(chr5:72790061-97478870)x3 |
copy number gain |
not provided [RCV001005683] |
Chr5:72790061..97478870 [GRCh37] Chr5:5q13.2-15 |
pathogenic |
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg) |
single nucleotide variant |
Sandhoff disease [RCV001175296] |
Chr5:74720723 [GRCh38] Chr5:74016548 [GRCh37] Chr5:5q13.3 |
likely benign|not provided |
NM_000521.4(HEXB):c.283del (p.Glu95fs) |
deletion |
Sandhoff disease [RCV001240185] |
Chr5:74685542 [GRCh38] Chr5:73981367 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu) |
single nucleotide variant |
Sandhoff disease [RCV001242017] |
Chr5:74685319 [GRCh38] Chr5:73981144 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala) |
single nucleotide variant |
Sandhoff disease [RCV001239378] |
Chr5:74713612 [GRCh38] Chr5:74009437 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.3(HEXB):c.773del |
deletion |
Sandhoff disease [RCV001239339] |
Chr5:74713505 [GRCh38] Chr5:74009330 [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 |
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) |
single nucleotide variant |
Sandhoff disease [RCV000993713] |
Chr5:74705310 [GRCh38] Chr5:74001135 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg) |
single nucleotide variant |
Sandhoff disease [RCV001246112] |
Chr5:74689359 [GRCh38] Chr5:73985184 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.156G>A (p.Pro52=) |
single nucleotide variant |
Sandhoff disease [RCV001155218] |
Chr5:74685416 [GRCh38] Chr5:73981241 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000521.4(HEXB):c.1082+13C>T |
single nucleotide variant |
Sandhoff disease [RCV001151446] |
Chr5:74715703 [GRCh38] Chr5:74011528 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000521.4(HEXB):c.772-39C>T |
single nucleotide variant |
not provided [RCV001638601] |
Chr5:74713467 [GRCh38] Chr5:74009292 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.-175G>A |
single nucleotide variant |
Sandhoff disease [RCV001832856]|not provided [RCV001679565] |
Chr5:74685086 [GRCh38] Chr5:73980911 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1169+242C>T |
single nucleotide variant |
not provided [RCV001556573] |
Chr5:74716915 [GRCh38] Chr5:74012740 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.446-167C>T |
single nucleotide variant |
not provided [RCV001639735] |
Chr5:74693472 [GRCh38] Chr5:73989297 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.669+281C>T |
single nucleotide variant |
not provided [RCV001562558] |
Chr5:74697387 [GRCh38] Chr5:73993212 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr) |
single nucleotide variant |
Sandhoff disease [RCV002001616] |
Chr5:74697021 [GRCh38] Chr5:73992846 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.670-274A>T |
single nucleotide variant |
not provided [RCV001696732] |
Chr5:74704945 [GRCh38] Chr5:74000770 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1169+89T>A |
single nucleotide variant |
not provided [RCV001558578] |
Chr5:74716762 [GRCh38] Chr5:74012587 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.512-119A>G |
single nucleotide variant |
not provided [RCV001590806] |
Chr5:74696574 [GRCh38] Chr5:73992399 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.806del (p.Asn269fs) |
deletion |
Sandhoff disease [RCV001580726] |
Chr5:74713538 [GRCh38] Chr5:74009363 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.670-107del |
deletion |
not provided [RCV001614627] |
Chr5:74705092 [GRCh38] Chr5:74000917 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.276C>T (p.Thr92=) |
single nucleotide variant |
Sandhoff disease [RCV000873106]|not provided [RCV001585840] |
Chr5:74685536 [GRCh38] Chr5:73981361 [GRCh37] Chr5:5q13.3 |
benign|likely benign |
NM_000521.4(HEXB):c.1149A>G (p.Leu383=) |
single nucleotide variant |
Sandhoff disease [RCV000979818] |
Chr5:74716653 [GRCh38] Chr5:74012478 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1614-10T>C |
single nucleotide variant |
Sandhoff disease [RCV001427059] |
Chr5:74721108 [GRCh38] Chr5:74016933 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.771+9A>G |
single nucleotide variant |
Sandhoff disease [RCV001490132] |
Chr5:74705329 [GRCh38] Chr5:74001154 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1374A>G (p.Gln458=) |
single nucleotide variant |
Sandhoff disease [RCV000933373] |
Chr5:74718928 [GRCh38] Chr5:74014753 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu) |
single nucleotide variant |
Sandhoff disease [RCV001221870] |
Chr5:74715648 [GRCh38] Chr5:74011473 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs) |
indel |
Sandhoff disease [RCV001244478] |
Chr5:74720484..74720487 [GRCh38] Chr5:74016309..74016312 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) |
duplication |
Sandhoff disease [RCV001056488]|not provided [RCV001732027] |
Chr5:74718846..74718847 [GRCh38] Chr5:74014671..74014672 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.571_574del (p.Glu191fs) |
deletion |
Sandhoff disease [RCV001224279] |
Chr5:74697005..74697008 [GRCh38] Chr5:73992830..73992833 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter) |
single nucleotide variant |
Sandhoff disease [RCV000985063] |
Chr5:74685354 [GRCh38] Chr5:73981179 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.670-108_670-107del |
deletion |
not provided [RCV001563499] |
Chr5:74705092..74705093 [GRCh38] Chr5:74000917..74000918 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1332C>G (p.Ile444Met) |
single nucleotide variant |
Sandhoff disease [RCV001563768] |
Chr5:74718886 [GRCh38] Chr5:74014711 [GRCh37] Chr5:5q13.3 |
uncertain significance |
GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3 |
copy number gain |
not provided [RCV001005684] |
Chr5:72829994..74076751 [GRCh37] Chr5:5q13.2-13.3 |
uncertain significance |
NM_000521.4(HEXB):c.445+59T>C |
single nucleotide variant |
not provided [RCV001688367] |
Chr5:74689532 [GRCh38] Chr5:73985357 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1614-66A>C |
single nucleotide variant |
not provided [RCV001590654] |
Chr5:74721052 [GRCh38] Chr5:74016877 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1242+217G>A |
single nucleotide variant |
not provided [RCV001596424] |
Chr5:74718580 [GRCh38] Chr5:74014405 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1082+40dup |
duplication |
not provided [RCV001643291] |
Chr5:74715716..74715717 [GRCh38] Chr5:74011541..74011542 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.772-132T>G |
single nucleotide variant |
not provided [RCV001594324] |
Chr5:74713374 [GRCh38] Chr5:74009199 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.300-276_300-275insA |
insertion |
not provided [RCV001636295] |
Chr5:74689052..74689053 [GRCh38] Chr5:73984877..73984878 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) |
microsatellite |
Sandhoff disease [RCV001090117] |
Chr5:74697089..74697091 [GRCh38] Chr5:73992914..73992916 [GRCh37] Chr5:5q13.3 |
pathogenic|uncertain significance |
NM_000521.3(HEXB):c.-62G>A |
single nucleotide variant |
Sandhoff disease [RCV001155217] |
Chr5:74685199 [GRCh38] Chr5:73981024 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.669G>A (p.Leu223=) |
single nucleotide variant |
Sandhoff disease [RCV001156876] |
Chr5:74697106 [GRCh38] Chr5:73992931 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr) |
single nucleotide variant |
Sandhoff disease [RCV001245816] |
Chr5:74720455 [GRCh38] Chr5:74016280 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) |
single nucleotide variant |
Sandhoff disease [RCV001193758] |
Chr5:74720672 [GRCh38] Chr5:74016497 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.3(HEXB):c.-63G>A |
single nucleotide variant |
Sandhoff disease [RCV001155216] |
Chr5:74685198 [GRCh38] Chr5:73981023 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) |
duplication |
Sandhoff disease [RCV001043436] |
Chr5:74693642..74693643 [GRCh38] Chr5:73989467..73989468 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.299+75C>A |
single nucleotide variant |
not provided [RCV001616861] |
Chr5:74685634 [GRCh38] Chr5:73981459 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) |
indel |
Sandhoff disease [RCV001053207] |
Chr5:74715629..74715631 [GRCh38] Chr5:74011454..74011456 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.445+280A>C |
single nucleotide variant |
not provided [RCV001680776] |
Chr5:74689753 [GRCh38] Chr5:73985578 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.771+215A>C |
single nucleotide variant |
not provided [RCV001586181] |
Chr5:74705535 [GRCh38] Chr5:74001360 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs) |
deletion |
Sandhoff disease [RCV001206614] |
Chr5:74721146..74721161 [GRCh38] Chr5:74016971..74016986 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.559-1G>T |
single nucleotide variant |
Sandhoff disease [RCV001234727] |
Chr5:74696995 [GRCh38] Chr5:73992820 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.558+1G>C |
single nucleotide variant |
Sandhoff disease [RCV001058264] |
Chr5:74696740 [GRCh38] Chr5:73992565 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) |
microsatellite |
Sandhoff disease [RCV001233820] |
Chr5:74718862..74718863 [GRCh38] Chr5:74014687..74014688 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) |
single nucleotide variant |
Sandhoff disease [RCV001218156]|not specified [RCV001194422] |
Chr5:74718819 [GRCh38] Chr5:74014644 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.249C>T (p.Pro83=) |
single nucleotide variant |
Sandhoff disease [RCV001505485]|not provided [RCV001171848] |
Chr5:74685509 [GRCh38] Chr5:73981334 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile) |
single nucleotide variant |
Sandhoff disease [RCV001062976] |
Chr5:74697000 [GRCh38] Chr5:73992825 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1417+11C>T |
single nucleotide variant |
Sandhoff disease [RCV001151448] |
Chr5:74718982 [GRCh38] Chr5:74014807 [GRCh37] Chr5:5q13.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) |
single nucleotide variant |
Sandhoff disease [RCV001879821]|not specified [RCV001251393] |
Chr5:74720647 [GRCh38] Chr5:74016472 [GRCh37] Chr5:5q13.3 |
pathogenic|uncertain significance |
NM_000521.4(HEXB):c.1242+3G>T |
single nucleotide variant |
Sandhoff disease [RCV001264795] |
Chr5:74718366 [GRCh38] Chr5:74014191 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV001265747]|Sandhoff disease [RCV002541621] |
Chr5:74715665 [GRCh38] Chr5:74011490 [GRCh37] Chr5:5q13.3 |
likely pathogenic|uncertain significance |
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264377] |
Chr5:74715677 [GRCh38] Chr5:74011502 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264378] |
Chr5:74715690 [GRCh38] Chr5:74011515 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264380] |
Chr5:74718841 [GRCh38] Chr5:74014666 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264046] |
Chr5:74689360 [GRCh38] Chr5:73985185 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264047] |
Chr5:74696710 [GRCh38] Chr5:73992535 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264048] |
Chr5:74697076 [GRCh38] Chr5:73992901 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264379] |
Chr5:74718841 [GRCh38] Chr5:74014666 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile) |
single nucleotide variant |
Sandhoff disease [RCV001830064]|not specified [RCV001264467] |
Chr5:74720717 [GRCh38] Chr5:74016542 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264374] |
Chr5:74705288 [GRCh38] Chr5:74001113 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264375] |
Chr5:74715632 [GRCh38] Chr5:74011457 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter) |
single nucleotide variant |
Sandhoff disease [RCV001264376] |
Chr5:74715647 [GRCh38] Chr5:74011472 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4:c.1_669del |
deletion |
Intellectual disability [RCV001263359] |
|
likely pathogenic |
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys) |
single nucleotide variant |
Sandhoff disease [RCV001318216] |
Chr5:74689330 [GRCh38] Chr5:73985155 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe) |
single nucleotide variant |
Sandhoff disease [RCV001319475] |
Chr5:74713520 [GRCh38] Chr5:74009345 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) |
deletion |
Sandhoff disease [RCV001382863] |
Chr5:74713514..74713517 [GRCh38] Chr5:74009339..74009342 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.174C>T (p.Pro58=) |
single nucleotide variant |
Sandhoff disease [RCV001412639] |
Chr5:74685434 [GRCh38] Chr5:73981259 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.180G>A (p.Pro60=) |
single nucleotide variant |
Sandhoff disease [RCV001392149] |
Chr5:74685440 [GRCh38] Chr5:73981265 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg) |
single nucleotide variant |
Sandhoff disease [RCV001367809] |
Chr5:74713635 [GRCh38] Chr5:74009460 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1243-8G>A |
single nucleotide variant |
Sandhoff disease [RCV001396758] |
Chr5:74718789 [GRCh38] Chr5:74014614 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.36C>T (p.Pro12=) |
single nucleotide variant |
Sandhoff disease [RCV001422977] |
Chr5:74685296 [GRCh38] Chr5:73981121 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.511+10A>C |
single nucleotide variant |
Sandhoff disease [RCV001397421] |
Chr5:74693714 [GRCh38] Chr5:73989539 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1614-6_1628dup |
duplication |
Sandhoff disease [RCV001369836] |
Chr5:74721111..74721112 [GRCh38] Chr5:74016936..74016937 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.42G>T (p.Leu14=) |
single nucleotide variant |
Sandhoff disease [RCV001392013] |
Chr5:74685302 [GRCh38] Chr5:73981127 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) |
duplication |
Sandhoff disease [RCV001381997]|not provided [RCV001310505] |
Chr5:74716668..74716669 [GRCh38] Chr5:74012493..74012494 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.300A>C (p.Arg100=) |
single nucleotide variant |
Sandhoff disease [RCV001371148] |
Chr5:74689328 [GRCh38] Chr5:73985153 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs) |
deletion |
Sandhoff disease [RCV001382579] |
Chr5:74715624..74715625 [GRCh38] Chr5:74011449..74011450 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.876del (p.His294fs) |
deletion |
Sandhoff disease [RCV002545035]|not provided [RCV001310504] |
Chr5:74713610 [GRCh38] Chr5:74009435 [GRCh37] Chr5:5q13.3 |
pathogenic |
NC_000005.9:g.(?_73981066)_(74017020_?)del |
deletion |
Sandhoff disease [RCV001382808] |
Chr5:73981066..74017020 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.703C>T (p.His235Tyr) |
single nucleotide variant |
Sandhoff disease [RCV001269215] |
Chr5:74705252 [GRCh38] Chr5:74001077 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) |
single nucleotide variant |
Sandhoff disease [RCV001279185] |
Chr5:74721174 [GRCh38] Chr5:74016999 [GRCh37] Chr5:5q13.3 |
likely benign|uncertain significance |
NM_000521.4(HEXB):c.965T>C (p.Ile322Thr) |
single nucleotide variant |
Sandhoff disease [RCV001290316] |
Chr5:74715573 [GRCh38] Chr5:74011398 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser) |
single nucleotide variant |
Sandhoff disease [RCV001307119] |
Chr5:74721159 [GRCh38] Chr5:74016984 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala) |
single nucleotide variant |
Sandhoff disease [RCV001367084] |
Chr5:74685396 [GRCh38] Chr5:73981221 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu) |
single nucleotide variant |
Sandhoff disease [RCV001279183] |
Chr5:74685274 [GRCh38] Chr5:73981099 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1542G>C (p.Trp514Cys) |
single nucleotide variant |
Sandhoff disease [RCV001329339] |
Chr5:74720676 [GRCh38] Chr5:74016501 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1563T>C (p.Asp521=) |
single nucleotide variant |
Sandhoff disease [RCV001450943] |
Chr5:74720697 [GRCh38] Chr5:74016522 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1296A>G (p.Glu432=) |
single nucleotide variant |
Sandhoff disease [RCV001461083] |
Chr5:74718850 [GRCh38] Chr5:74014675 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-6T>C |
single nucleotide variant |
Sandhoff disease [RCV001485811] |
Chr5:74718285 [GRCh38] Chr5:74014110 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1536A>G (p.Arg512=) |
single nucleotide variant |
Sandhoff disease [RCV001399712] |
Chr5:74720670 [GRCh38] Chr5:74016495 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.838T>C (p.Leu280=) |
single nucleotide variant |
Sandhoff disease [RCV001482202] |
Chr5:74713572 [GRCh38] Chr5:74009397 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-7dup |
duplication |
Sandhoff disease [RCV001488153] |
Chr5:74720633..74720634 [GRCh38] Chr5:74016458..74016459 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1251G>A (p.Pro417=) |
single nucleotide variant |
Sandhoff disease [RCV001452055] |
Chr5:74718805 [GRCh38] Chr5:74014630 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1362T>A (p.Ile454=) |
single nucleotide variant |
Sandhoff disease [RCV001462794] |
Chr5:74718916 [GRCh38] Chr5:74014741 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1026G>A (p.Glu342=) |
single nucleotide variant |
Sandhoff disease [RCV001462903] |
Chr5:74715634 [GRCh38] Chr5:74011459 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1062T>C (p.Asp354=) |
single nucleotide variant |
Sandhoff disease [RCV001474326] |
Chr5:74715670 [GRCh38] Chr5:74011495 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.486C>A (p.Ala162=) |
single nucleotide variant |
Sandhoff disease [RCV001459930] |
Chr5:74693679 [GRCh38] Chr5:73989504 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1279A>G (p.Ser427Gly) |
single nucleotide variant |
Sandhoff disease [RCV001434165] |
Chr5:74718833 [GRCh38] Chr5:74014658 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1500A>G (p.Pro500=) |
single nucleotide variant |
Sandhoff disease [RCV001491651] |
Chr5:74720510 [GRCh38] Chr5:74016335 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1041A>G (p.Gln347=) |
single nucleotide variant |
Sandhoff disease [RCV001453144] |
Chr5:74715649 [GRCh38] Chr5:74011474 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.108G>A (p.Val36=) |
single nucleotide variant |
Sandhoff disease [RCV001504263] |
Chr5:74685368 [GRCh38] Chr5:73981193 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.519G>A (p.Glu173=) |
single nucleotide variant |
Sandhoff disease [RCV001434300] |
Chr5:74696700 [GRCh38] Chr5:73992525 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.924A>G (p.Pro308=) |
single nucleotide variant |
Sandhoff disease [RCV001487290] |
Chr5:74715532 [GRCh38] Chr5:74011357 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1281C>T (p.Ser427=) |
single nucleotide variant |
Sandhoff disease [RCV001437771] |
Chr5:74718835 [GRCh38] Chr5:74014660 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1494C>G (p.Leu498=) |
single nucleotide variant |
Sandhoff disease [RCV001463590] |
Chr5:74720504 [GRCh38] Chr5:74016329 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.42G>C (p.Leu14=) |
single nucleotide variant |
Sandhoff disease [RCV001419577] |
Chr5:74685302 [GRCh38] Chr5:73981127 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.670-10T>G |
single nucleotide variant |
Sandhoff disease [RCV001411862] |
Chr5:74705209 [GRCh38] Chr5:74001034 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.558+7A>T |
single nucleotide variant |
Sandhoff disease [RCV001425514] |
Chr5:74696746 [GRCh38] Chr5:73992571 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.216C>T (p.Leu72=) |
single nucleotide variant |
Sandhoff disease [RCV001434505] |
Chr5:74685476 [GRCh38] Chr5:73981301 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1029G>C (p.Val343=) |
single nucleotide variant |
Sandhoff disease [RCV001449209] |
Chr5:74715637 [GRCh38] Chr5:74011462 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.567C>A (p.Ile189=) |
single nucleotide variant |
Sandhoff disease [RCV001405212] |
Chr5:74697004 [GRCh38] Chr5:73992829 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.597G>A (p.Arg199=) |
single nucleotide variant |
Sandhoff disease [RCV001444141] |
Chr5:74697034 [GRCh38] Chr5:73992859 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.303T>C (p.Tyr101=) |
single nucleotide variant |
Sandhoff disease [RCV001444561] |
Chr5:74689331 [GRCh38] Chr5:73985156 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.219C>G (p.Ala73=) |
single nucleotide variant |
Sandhoff disease [RCV001417490] |
Chr5:74685479 [GRCh38] Chr5:73981304 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs) |
deletion |
Sandhoff disease [RCV001388183] |
Chr5:74720717..74720720 [GRCh38] Chr5:74016542..74016545 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter) |
single nucleotide variant |
Sandhoff disease [RCV001383633] |
Chr5:74720712 [GRCh38] Chr5:74016537 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.948G>A (p.Leu316=) |
single nucleotide variant |
Sandhoff disease [RCV001431619] |
Chr5:74715556 [GRCh38] Chr5:74011381 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1275A>G (p.Lys425=) |
single nucleotide variant |
Sandhoff disease [RCV001437963] |
Chr5:74718829 [GRCh38] Chr5:74014654 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter) |
single nucleotide variant |
Sandhoff disease [RCV001381568] |
Chr5:74716648 [GRCh38] Chr5:74012473 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.126G>T (p.Ala42=) |
single nucleotide variant |
Sandhoff disease [RCV001431602] |
Chr5:74685386 [GRCh38] Chr5:73981211 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.633A>G (p.Arg211=) |
single nucleotide variant |
Sandhoff disease [RCV001447906] |
Chr5:74697070 [GRCh38] Chr5:73992895 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.33G>T (p.Pro11=) |
single nucleotide variant |
Sandhoff disease [RCV001408893] |
Chr5:74685293 [GRCh38] Chr5:73981118 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1320C>G (p.Gly440=) |
single nucleotide variant |
Sandhoff disease [RCV001411471] |
Chr5:74718874 [GRCh38] Chr5:74014699 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.450T>A (p.Thr150=) |
single nucleotide variant |
Sandhoff disease [RCV001429776] |
Chr5:74693643 [GRCh38] Chr5:73989468 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs) |
deletion |
Sandhoff disease [RCV001382002] |
Chr5:74716657..74716660 [GRCh38] Chr5:74012482..74012485 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.201G>A (p.Pro67=) |
single nucleotide variant |
Sandhoff disease [RCV001411572] |
Chr5:74685461 [GRCh38] Chr5:73981286 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer) |
deletion |
Sandhoff disease [RCV001387227] |
Chr5:74718940..74718944 [GRCh38] Chr5:74014765..74014769 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.727T>A (p.Ser243Thr) |
single nucleotide variant |
not provided [RCV001507647] |
Chr5:74705276 [GRCh38] Chr5:74001101 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.504A>C (p.Ala168=) |
single nucleotide variant |
Sandhoff disease [RCV001468579] |
Chr5:74693697 [GRCh38] Chr5:73989522 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.345T>C (p.Pro115=) |
single nucleotide variant |
Sandhoff disease [RCV001493743] |
Chr5:74689373 [GRCh38] Chr5:73985198 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.210G>T (p.Leu70=) |
single nucleotide variant |
Sandhoff disease [RCV001506102] |
Chr5:74685470 [GRCh38] Chr5:73981295 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1243-9C>T |
single nucleotide variant |
Sandhoff disease [RCV001496555] |
Chr5:74718788 [GRCh38] Chr5:74014613 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1419T>C (p.Gly473=) |
single nucleotide variant |
Sandhoff disease [RCV001476587] |
Chr5:74720429 [GRCh38] Chr5:74016254 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.723C>T (p.Asp241=) |
single nucleotide variant |
Sandhoff disease [RCV001479906] |
Chr5:74705272 [GRCh38] Chr5:74001097 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.972T>C (p.Pro324=) |
single nucleotide variant |
Sandhoff disease [RCV001497218] |
Chr5:74715580 [GRCh38] Chr5:74011405 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.843A>G (p.Arg281=) |
single nucleotide variant |
Sandhoff disease [RCV001459721] |
Chr5:74713577 [GRCh38] Chr5:74009402 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1614-7dup |
duplication |
Sandhoff disease [RCV001480282] |
Chr5:74721110..74721111 [GRCh38] Chr5:74016935..74016936 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.855C>T (p.Val285=) |
single nucleotide variant |
Sandhoff disease [RCV001477518] |
Chr5:74713589 [GRCh38] Chr5:74009414 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.300-7C>T |
single nucleotide variant |
Sandhoff disease [RCV001497440] |
Chr5:74689321 [GRCh38] Chr5:73985146 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.69G>T (p.Leu23=) |
single nucleotide variant |
Sandhoff disease [RCV001463675] |
Chr5:74685329 [GRCh38] Chr5:73981154 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.300-201C>A |
single nucleotide variant |
not provided [RCV001680887] |
Chr5:74689127 [GRCh38] Chr5:73984952 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.670-107dup |
duplication |
not provided [RCV001687314] |
Chr5:74705091..74705092 [GRCh38] Chr5:74000916..74000917 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=) |
single nucleotide variant |
Sandhoff disease [RCV001471806] |
Chr5:74716665 [GRCh38] Chr5:74012490 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1614-8A>G |
single nucleotide variant |
Sandhoff disease [RCV001478034] |
Chr5:74721110 [GRCh38] Chr5:74016935 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-4T>C |
single nucleotide variant |
Sandhoff disease [RCV001456733] |
Chr5:74720639 [GRCh38] Chr5:74016464 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.445+7A>G |
single nucleotide variant |
Sandhoff disease [RCV001462501] |
Chr5:74689480 [GRCh38] Chr5:73985305 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.654T>C (p.Ile218=) |
single nucleotide variant |
Sandhoff disease [RCV001465669] |
Chr5:74697091 [GRCh38] Chr5:73992916 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1539C>A (p.Leu513=) |
single nucleotide variant |
Sandhoff disease [RCV001488551] |
Chr5:74720673 [GRCh38] Chr5:74016498 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.276C>A (p.Thr92=) |
single nucleotide variant |
Sandhoff disease [RCV001457911]|not provided [RCV003434245] |
Chr5:74685536 [GRCh38] Chr5:73981361 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs) |
deletion |
Sandhoff disease [RCV001378417] |
Chr5:74720697..74720707 [GRCh38] Chr5:74016522..74016532 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.126G>A (p.Ala42=) |
single nucleotide variant |
Sandhoff disease [RCV001398613] |
Chr5:74685386 [GRCh38] Chr5:73981211 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1417+9A>G |
single nucleotide variant |
Sandhoff disease [RCV001398452] |
Chr5:74718980 [GRCh38] Chr5:74014805 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.378A>G (p.Gln126=) |
single nucleotide variant |
Sandhoff disease [RCV001404815] |
Chr5:74689406 [GRCh38] Chr5:73985231 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.735A>T (p.Pro245=) |
single nucleotide variant |
Sandhoff disease [RCV001494135] |
Chr5:74705284 [GRCh38] Chr5:74001109 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs) |
deletion |
Sandhoff disease [RCV001386324] |
Chr5:74718853..74718857 [GRCh38] Chr5:74014678..74014682 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.299+7G>C |
single nucleotide variant |
Sandhoff disease [RCV001479567] |
Chr5:74685566 [GRCh38] Chr5:73981391 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.855C>A (p.Val285=) |
single nucleotide variant |
Sandhoff disease [RCV001424567] |
Chr5:74713589 [GRCh38] Chr5:74009414 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.240C>T (p.Ser80=) |
single nucleotide variant |
Sandhoff disease [RCV001466906] |
Chr5:74685500 [GRCh38] Chr5:73981325 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.147G>C (p.Ser49=) |
single nucleotide variant |
Sandhoff disease [RCV003108942] |
Chr5:74685407 [GRCh38] Chr5:73981232 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu) |
single nucleotide variant |
Sandhoff disease [RCV003236447] |
Chr5:74697048 [GRCh38] Chr5:73992873 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.988T>G (p.Tyr330Asp) |
single nucleotide variant |
not specified [RCV001797887] |
Chr5:74715596 [GRCh38] Chr5:74011421 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln) |
single nucleotide variant |
Sandhoff disease [RCV001797888] |
Chr5:74713585 [GRCh38] Chr5:74009410 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.178C>A (p.Pro60Thr) |
single nucleotide variant |
not specified [RCV001797889] |
Chr5:74685438 [GRCh38] Chr5:73981263 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.299G>A (p.Arg100Gln) |
single nucleotide variant |
not specified [RCV001806718] |
Chr5:74685559 [GRCh38] Chr5:73981384 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) |
single nucleotide variant |
Sandhoff disease [RCV001732819]|not provided [RCV003481126] |
Chr5:74720732 [GRCh38] Chr5:74016557 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1378T>C (p.Trp460Arg) |
single nucleotide variant |
not specified [RCV001733375] |
Chr5:74718932 [GRCh38] Chr5:74014757 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.880C>T (p.His294Tyr) |
single nucleotide variant |
Sandhoff disease [RCV001806307] |
Chr5:74713614 [GRCh38] Chr5:74009439 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg) |
single nucleotide variant |
not provided [RCV001816395]|not specified [RCV003388052] |
Chr5:74720720 [GRCh38] Chr5:74016545 [GRCh37] Chr5:5q13.3 |
likely pathogenic|uncertain significance |
NM_000521.4(HEXB):c.1049A>T (p.His350Leu) |
single nucleotide variant |
Sandhoff disease [RCV001823432] |
Chr5:74715657 [GRCh38] Chr5:74011482 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser) |
single nucleotide variant |
Sandhoff disease [RCV001864525] |
Chr5:74689420 [GRCh38] Chr5:73985245 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr) |
single nucleotide variant |
Sandhoff disease [RCV001928798] |
Chr5:74715534 [GRCh38] Chr5:74011359 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer) |
deletion |
Sandhoff disease [RCV002040611] |
Chr5:74721143..74721156 [GRCh38] Chr5:74016968..74016981 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs) |
insertion |
Sandhoff disease [RCV001949467] |
Chr5:74718857..74718858 [GRCh38] Chr5:74014682..74014683 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1614-7_1614-1dup |
duplication |
Sandhoff disease [RCV002020553] |
Chr5:74721110..74721111 [GRCh38] Chr5:74016935..74016936 [GRCh37] Chr5:5q13.3 |
likely pathogenic|uncertain significance |
NM_000521.4(HEXB):c.1169+1G>C |
single nucleotide variant |
Sandhoff disease [RCV001984294] |
Chr5:74716674 [GRCh38] Chr5:74012499 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro) |
single nucleotide variant |
Sandhoff disease [RCV001891756]|not specified [RCV002266054] |
Chr5:74685436 [GRCh38] Chr5:73981261 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1482T>C (p.Asp494=) |
single nucleotide variant |
Sandhoff disease [RCV001970402] |
Chr5:74720492 [GRCh38] Chr5:74016317 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.766A>C (p.Asn256His) |
single nucleotide variant |
Inborn genetic diseases [RCV002542730]|Sandhoff disease [RCV001823551] |
Chr5:74705315 [GRCh38] Chr5:74001140 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1614-63_1614-36del |
deletion |
not provided [RCV002052329] |
Chr5:74721042..74721069 [GRCh38] Chr5:74016867..74016894 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro) |
single nucleotide variant |
Sandhoff disease [RCV001983432] |
Chr5:74720648 [GRCh38] Chr5:74016473 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile) |
single nucleotide variant |
Sandhoff disease [RCV002038495] |
Chr5:74713606 [GRCh38] Chr5:74009431 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.705C>G (p.His235Gln) |
single nucleotide variant |
Sandhoff disease [RCV002038611] |
Chr5:74705254 [GRCh38] Chr5:74001079 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1508+1G>A |
single nucleotide variant |
Sandhoff disease [RCV002015164] |
Chr5:74720519 [GRCh38] Chr5:74016344 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1024del (p.Glu342fs) |
deletion |
Sandhoff disease [RCV001941667] |
Chr5:74715632 [GRCh38] Chr5:74011457 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.300-1G>C |
single nucleotide variant |
Sandhoff disease [RCV002046604] |
Chr5:74689327 [GRCh38] Chr5:73985152 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NC_000005.9:g.(?_73992508)_(73992941_?)dup |
duplication |
Sandhoff disease [RCV002010274] |
Chr5:73992508..73992941 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.916_917del (p.Leu306fs) |
deletion |
Sandhoff disease [RCV001922480] |
Chr5:74715524..74715525 [GRCh38] Chr5:74011349..74011350 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.881A>G (p.His294Arg) |
single nucleotide variant |
Sandhoff disease [RCV001918425] |
Chr5:74713615 [GRCh38] Chr5:74009440 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.731del (p.Phe244fs) |
deletion |
Sandhoff disease [RCV001952947] |
Chr5:74705278 [GRCh38] Chr5:74001103 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro) |
single nucleotide variant |
Sandhoff disease [RCV001932327] |
Chr5:74697096 [GRCh38] Chr5:73992921 [GRCh37] Chr5:5q13.3 |
likely pathogenic|uncertain significance |
NC_000005.9:g.(?_73985143)_(74014806_?)del |
deletion |
Sandhoff disease [RCV001939657] |
Chr5:73985143..74014806 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer) |
insertion |
Sandhoff disease [RCV001989977] |
Chr5:74716646..74716647 [GRCh38] Chr5:74012471..74012472 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1404del (p.Asp470fs) |
deletion |
Sandhoff disease [RCV001956231] |
Chr5:74718958 [GRCh38] Chr5:74014783 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) |
single nucleotide variant |
Sandhoff disease [RCV001902454] |
Chr5:74693645 [GRCh38] Chr5:73989470 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro) |
single nucleotide variant |
Sandhoff disease [RCV001937627] |
Chr5:74696723 [GRCh38] Chr5:73992548 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs) |
deletion |
Sandhoff disease [RCV001920974] |
Chr5:74718831..74718832 [GRCh38] Chr5:74014656..74014657 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs) |
insertion |
Sandhoff disease [RCV001958961] |
Chr5:74715600..74715601 [GRCh38] Chr5:74011425..74011426 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg) |
single nucleotide variant |
Sandhoff disease [RCV001883239] |
Chr5:74718919 [GRCh38] Chr5:74014744 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1264dup (p.Glu422fs) |
duplication |
Sandhoff disease [RCV001883814] |
Chr5:74718817..74718818 [GRCh38] Chr5:74014642..74014643 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.902-5T>G |
single nucleotide variant |
Sandhoff disease [RCV001999146] |
Chr5:74715505 [GRCh38] Chr5:74011330 [GRCh37] Chr5:5q13.3 |
likely benign|uncertain significance |
NC_000005.9:g.(?_74011325)_(74017010_?)del |
deletion |
Sandhoff disease [RCV001899173] |
Chr5:74011325..74017010 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.531G>A (p.Gln177=) |
single nucleotide variant |
Sandhoff disease [RCV002208982] |
Chr5:74696712 [GRCh38] Chr5:73992537 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.879G>C (p.Gly293=) |
single nucleotide variant |
Sandhoff disease [RCV002075543] |
Chr5:74713613 [GRCh38] Chr5:74009438 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.138G>A (p.Pro46=) |
single nucleotide variant |
Sandhoff disease [RCV002144876] |
Chr5:74685398 [GRCh38] Chr5:73981223 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.582T>C (p.Ile194=) |
single nucleotide variant |
Sandhoff disease [RCV002125512] |
Chr5:74697019 [GRCh38] Chr5:73992844 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.75G>A (p.Ala25=) |
single nucleotide variant |
Sandhoff disease [RCV002088593] |
Chr5:74685335 [GRCh38] Chr5:73981160 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1242+17C>A |
single nucleotide variant |
Sandhoff disease [RCV002075676] |
Chr5:74718380 [GRCh38] Chr5:74014205 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.669+10T>C |
single nucleotide variant |
Sandhoff disease [RCV002186444] |
Chr5:74697116 [GRCh38] Chr5:73992941 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.381T>C (p.Leu127=) |
single nucleotide variant |
Sandhoff disease [RCV002089151] |
Chr5:74689409 [GRCh38] Chr5:73985234 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.339T>C (p.His113=) |
single nucleotide variant |
Sandhoff disease [RCV002191171] |
Chr5:74689367 [GRCh38] Chr5:73985192 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.660T>G (p.Leu220=) |
single nucleotide variant |
Sandhoff disease [RCV002145986] |
Chr5:74697097 [GRCh38] Chr5:73992922 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.738T>C (p.Tyr246=) |
single nucleotide variant |
Sandhoff disease [RCV002074533] |
Chr5:74705287 [GRCh38] Chr5:74001112 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.669+10T>G |
single nucleotide variant |
Sandhoff disease [RCV002148208] |
Chr5:74697116 [GRCh38] Chr5:73992941 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.138G>T (p.Pro46=) |
single nucleotide variant |
Sandhoff disease [RCV002105296] |
Chr5:74685398 [GRCh38] Chr5:73981223 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.567C>T (p.Ile189=) |
single nucleotide variant |
Sandhoff disease [RCV002209418] |
Chr5:74697004 [GRCh38] Chr5:73992829 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.66G>A (p.Leu22=) |
single nucleotide variant |
Sandhoff disease [RCV002129278] |
Chr5:74685326 [GRCh38] Chr5:73981151 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.471G>A (p.Val157=) |
single nucleotide variant |
Sandhoff disease [RCV002166972] |
Chr5:74693664 [GRCh38] Chr5:73989489 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.858G>A (p.Leu286=) |
single nucleotide variant |
Sandhoff disease [RCV002205154] |
Chr5:74713592 [GRCh38] Chr5:74009417 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.559-18A>T |
single nucleotide variant |
Sandhoff disease [RCV002191332] |
Chr5:74696978 [GRCh38] Chr5:73992803 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+6_1613+21dup |
duplication |
Sandhoff disease [RCV002209628] |
Chr5:74720752..74720753 [GRCh38] Chr5:74016577..74016578 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1512T>C (p.Pro504=) |
single nucleotide variant |
Sandhoff disease [RCV002129322] |
Chr5:74720646 [GRCh38] Chr5:74016471 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.446-6A>T |
single nucleotide variant |
Sandhoff disease [RCV002128196] |
Chr5:74693633 [GRCh38] Chr5:73989458 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.12C>T (p.Cys4=) |
single nucleotide variant |
Sandhoff disease [RCV002086426] |
Chr5:74685272 [GRCh38] Chr5:73981097 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-4C>T |
single nucleotide variant |
Sandhoff disease [RCV002088606] |
Chr5:74718287 [GRCh38] Chr5:74014112 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1508+7G>A |
single nucleotide variant |
Sandhoff disease [RCV002152934] |
Chr5:74720525 [GRCh38] Chr5:74016350 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.993C>T (p.Ser331=) |
single nucleotide variant |
Sandhoff disease [RCV002115008] |
Chr5:74715601 [GRCh38] Chr5:74011426 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.159G>A (p.Gly53=) |
single nucleotide variant |
Sandhoff disease [RCV002113155] |
Chr5:74685419 [GRCh38] Chr5:73981244 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.93T>C (p.Thr31=) |
single nucleotide variant |
Sandhoff disease [RCV002197470] |
Chr5:74685353 [GRCh38] Chr5:73981178 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.888A>G (p.Leu296=) |
single nucleotide variant |
Sandhoff disease [RCV002117280] |
Chr5:74713622 [GRCh38] Chr5:74009447 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.670-8G>A |
single nucleotide variant |
Sandhoff disease [RCV002153764] |
Chr5:74705211 [GRCh38] Chr5:74001036 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.772-8T>C |
single nucleotide variant |
Sandhoff disease [RCV002153217] |
Chr5:74713498 [GRCh38] Chr5:74009323 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.559-4A>G |
single nucleotide variant |
Sandhoff disease [RCV002114233] |
Chr5:74696992 [GRCh38] Chr5:73992817 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.354C>T (p.Phe118=) |
single nucleotide variant |
Sandhoff disease [RCV002113689] |
Chr5:74689382 [GRCh38] Chr5:73985207 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1437A>C (p.Gln479His) |
single nucleotide variant |
Inborn genetic diseases [RCV003007092]|Sandhoff disease [RCV002097664] |
Chr5:74720447 [GRCh38] Chr5:74016272 [GRCh37] Chr5:5q13.3 |
likely benign|uncertain significance |
NM_000521.4(HEXB):c.705C>T (p.His235=) |
single nucleotide variant |
Sandhoff disease [RCV002127661] |
Chr5:74705254 [GRCh38] Chr5:74001079 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1437A>G (p.Gln479=) |
single nucleotide variant |
Sandhoff disease [RCV002091689] |
Chr5:74720447 [GRCh38] Chr5:74016272 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-26G>C |
single nucleotide variant |
Sandhoff disease [RCV002150194] |
Chr5:74720617 [GRCh38] Chr5:74016442 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1263T>G (p.Val421=) |
single nucleotide variant |
Sandhoff disease [RCV002118984] |
Chr5:74718817 [GRCh38] Chr5:74014642 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.873C>T (p.Thr291=) |
single nucleotide variant |
Sandhoff disease [RCV002121079] |
Chr5:74713607 [GRCh38] Chr5:74009432 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1382G>A (p.Arg461Lys) |
single nucleotide variant |
Sandhoff disease [RCV002226893] |
Chr5:74718936 [GRCh38] Chr5:74014761 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=) |
single nucleotide variant |
Sandhoff disease [RCV002175524] |
Chr5:74721154 [GRCh38] Chr5:74016979 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.251A>G (p.Asn84Ser) |
single nucleotide variant |
Sandhoff disease [RCV002177544] |
Chr5:74685511 [GRCh38] Chr5:73981336 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.657T>C (p.Ile219=) |
single nucleotide variant |
Sandhoff disease [RCV002202162] |
Chr5:74697094 [GRCh38] Chr5:73992919 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.670-9T>G |
single nucleotide variant |
Sandhoff disease [RCV002100781] |
Chr5:74705210 [GRCh38] Chr5:74001035 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.446-7A>G |
single nucleotide variant |
Sandhoff disease [RCV002200778] |
Chr5:74693632 [GRCh38] Chr5:73989457 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1560A>G (p.Arg520=) |
single nucleotide variant |
Sandhoff disease [RCV002182239] |
Chr5:74720694 [GRCh38] Chr5:74016519 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.558+16A>G |
single nucleotide variant |
Sandhoff disease [RCV002100056] |
Chr5:74696755 [GRCh38] Chr5:73992580 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+10del |
deletion |
Sandhoff disease [RCV002083847] |
Chr5:74720757 [GRCh38] Chr5:74016582 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.525T>C (p.Phe175=) |
single nucleotide variant |
Sandhoff disease [RCV002120464] |
Chr5:74696706 [GRCh38] Chr5:73992531 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1101T>C (p.Ile367=) |
single nucleotide variant |
Sandhoff disease [RCV002198718] |
Chr5:74716605 [GRCh38] Chr5:74012430 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1027G>C (p.Val343Leu) |
single nucleotide variant |
Sandhoff disease [RCV002156829] |
Chr5:74715635 [GRCh38] Chr5:74011460 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.654T>A (p.Ile218=) |
single nucleotide variant |
Sandhoff disease [RCV002178270] |
Chr5:74697091 [GRCh38] Chr5:73992916 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1251G>T (p.Pro417=) |
single nucleotide variant |
Sandhoff disease [RCV002120531] |
Chr5:74718805 [GRCh38] Chr5:74014630 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1169+8G>T |
single nucleotide variant |
Sandhoff disease [RCV002162716] |
Chr5:74716681 [GRCh38] Chr5:74012506 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1083-10T>A |
single nucleotide variant |
Sandhoff disease [RCV002184251] |
Chr5:74716577 [GRCh38] Chr5:74012402 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-7A>T |
single nucleotide variant |
Sandhoff disease [RCV002164634] |
Chr5:74720636 [GRCh38] Chr5:74016461 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=) |
single nucleotide variant |
Sandhoff disease [RCV002182681] |
Chr5:74721145 [GRCh38] Chr5:74016970 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.552T>C (p.Tyr184=) |
single nucleotide variant |
Sandhoff disease [RCV002098714] |
Chr5:74696733 [GRCh38] Chr5:73992558 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.189G>A (p.Val63=) |
single nucleotide variant |
Sandhoff disease [RCV002143348] |
Chr5:74685449 [GRCh38] Chr5:73981274 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1082+25_1082+26insA |
insertion |
not provided [RCV002222779] |
Chr5:74715715..74715716 [GRCh38] Chr5:74011540..74011541 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1494C>T (p.Leu498=) |
single nucleotide variant |
Sandhoff disease [RCV002199508] |
Chr5:74720504 [GRCh38] Chr5:74016329 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.772-5T>C |
single nucleotide variant |
Sandhoff disease [RCV002123050] |
Chr5:74713501 [GRCh38] Chr5:74009326 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.390A>C (p.Ser130=) |
single nucleotide variant |
Sandhoff disease [RCV002176102] |
Chr5:74689418 [GRCh38] Chr5:73985243 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.135C>T (p.Ala45=) |
single nucleotide variant |
Sandhoff disease [RCV002176219] |
Chr5:74685395 [GRCh38] Chr5:73981220 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-21del |
deletion |
Sandhoff disease [RCV002100975] |
Chr5:74720617 [GRCh38] Chr5:74016442 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.55T>C (p.Leu19=) |
single nucleotide variant |
Sandhoff disease [RCV002178649] |
Chr5:74685315 [GRCh38] Chr5:73981140 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1539C>T (p.Leu513=) |
single nucleotide variant |
Sandhoff disease [RCV002142397] |
Chr5:74720673 [GRCh38] Chr5:74016498 [GRCh37] Chr5:5q13.3 |
likely benign |
NC_000005.9:g.(?_73981076)_(73981394_?)del |
deletion |
Sandhoff disease [RCV003111341] |
Chr5:73981076..73981394 [GRCh37] Chr5:5q13.3 |
pathogenic |
NC_000005.9:g.(?_73980960)_(75008762_?)dup |
duplication |
Sandhoff disease [RCV003111342]|not provided [RCV003122290] |
Chr5:73980960..75008762 [GRCh37] Chr5:5q13.3 |
uncertain significance|no classifications from unflagged records |
NC_000005.9:g.(?_73978914)_(73981242_?)del |
deletion |
Sandhoff disease [RCV003111343] |
Chr5:73978914..73981242 [GRCh37] Chr5:5q13.3 |
pathogenic |
NC_000005.9:g.(?_73980960)_(74041702_?)del |
deletion |
Sandhoff disease [RCV003111344] |
Chr5:73980960..74041702 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.771+14A>G |
single nucleotide variant |
Sandhoff disease [RCV003117048] |
Chr5:74705334 [GRCh38] Chr5:74001159 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.79T>C (p.Leu27=) |
single nucleotide variant |
Sandhoff disease [RCV003117255] |
Chr5:74685339 [GRCh38] Chr5:73981164 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-20A>T |
single nucleotide variant |
Sandhoff disease [RCV003118827] |
Chr5:74720623 [GRCh38] Chr5:74016448 [GRCh37] Chr5:5q13.3 |
likely benign |
NC_000005.9:g.(?_73980960)_(74059567_?)dup |
duplication |
not provided [RCV003122863] |
Chr5:73980960..74059567 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly) |
single nucleotide variant |
Sandhoff disease [RCV002273215] |
Chr5:74715669 [GRCh38] Chr5:74011494 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter) |
single nucleotide variant |
Sandhoff disease [RCV002243554] |
Chr5:74693640 [GRCh38] Chr5:73989465 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NC_000005.9:g.(?_73980968)_(73992932_74001043)del |
deletion |
Sandhoff disease [RCV002282832] |
Chr5:73980968..73992932 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1082+40del |
deletion |
not provided [RCV002285654] |
Chr5:74715717 [GRCh38] Chr5:74011542 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.686A>G (p.Asn229Ser) |
single nucleotide variant |
not provided [RCV002261767] |
Chr5:74705235 [GRCh38] Chr5:74001060 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.969C>A (p.Asn323Lys) |
single nucleotide variant |
Sandhoff disease [RCV003131128] |
Chr5:74715577 [GRCh38] Chr5:74011402 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter) |
single nucleotide variant |
Sandhoff disease [RCV002309216] |
Chr5:74713519 [GRCh38] Chr5:74009344 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter) |
single nucleotide variant |
Sandhoff disease [RCV002306496] |
Chr5:74718340 [GRCh38] Chr5:74014165 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter) |
single nucleotide variant |
Sandhoff disease [RCV002310082] |
Chr5:74697054 [GRCh38] Chr5:73992879 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.341_342del (p.Glu114fs) |
deletion |
Sandhoff disease [RCV002306995] |
Chr5:74689369..74689370 [GRCh38] Chr5:73985194..73985195 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1434dup (p.Gln479fs) |
duplication |
Sandhoff disease [RCV002307052] |
Chr5:74720441..74720442 [GRCh38] Chr5:74016266..74016267 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter) |
single nucleotide variant |
Sandhoff disease [RCV002307327] |
Chr5:74705287 [GRCh38] Chr5:74001112 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.971dup (p.Thr325fs) |
duplication |
Sandhoff disease [RCV002307068] |
Chr5:74715576..74715577 [GRCh38] Chr5:74011401..74011402 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs) |
indel |
Sandhoff disease [RCV002309465] |
Chr5:74685555..74685556 [GRCh38] Chr5:73981380..73981381 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.860del (p.Pro287fs) |
deletion |
Sandhoff disease [RCV002309205] |
Chr5:74713593 [GRCh38] Chr5:74009418 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.626del (p.Thr209fs) |
deletion |
Sandhoff disease [RCV002309533] |
Chr5:74697063 [GRCh38] Chr5:73992888 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.277del (p.Leu93fs) |
deletion |
Sandhoff disease [RCV002309840] |
Chr5:74685535 [GRCh38] Chr5:73981360 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter) |
single nucleotide variant |
Sandhoff disease [RCV002309962] |
Chr5:74718361 [GRCh38] Chr5:74014186 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs) |
indel |
Sandhoff disease [RCV002310382] |
Chr5:74685555..74685557 [GRCh38] Chr5:73981380..73981382 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs) |
indel |
Sandhoff disease [RCV002308275] |
Chr5:74716642..74716644 [GRCh38] Chr5:74012467..74012469 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.187G>A (p.Val63Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002840190] |
Chr5:74685447 [GRCh38] Chr5:73981272 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg) |
single nucleotide variant |
Sandhoff disease [RCV002615841] |
Chr5:74685481 [GRCh38] Chr5:73981306 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1469del (p.Gly490fs) |
deletion |
Sandhoff disease [RCV002686008] |
Chr5:74720476 [GRCh38] Chr5:74016301 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter) |
duplication |
Sandhoff disease [RCV002510393] |
Chr5:74721143..74721144 [GRCh38] Chr5:74016968..74016969 [GRCh37] Chr5:5q13.3 |
pathogenic|likely pathogenic |
NM_000521.4(HEXB):c.1671A>G (p.Ter557=) |
single nucleotide variant |
Sandhoff disease [RCV002838763] |
Chr5:74721175 [GRCh38] Chr5:74017000 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr) |
single nucleotide variant |
Sandhoff disease [RCV002972548] |
Chr5:74713558 [GRCh38] Chr5:74009383 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1473A>G (p.Glu491=) |
single nucleotide variant |
Sandhoff disease [RCV002881657] |
Chr5:74720483 [GRCh38] Chr5:74016308 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002904462]|Sandhoff disease [RCV002904461] |
Chr5:74697029 [GRCh38] Chr5:73992854 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs) |
duplication |
Sandhoff disease [RCV003033041] |
Chr5:74720441..74720442 [GRCh38] Chr5:74016266..74016267 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1653T>C (p.Cys551=) |
single nucleotide variant |
Sandhoff disease [RCV002858385] |
Chr5:74721157 [GRCh38] Chr5:74016982 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.306T>C (p.His102=) |
single nucleotide variant |
Sandhoff disease [RCV002751056] |
Chr5:74689334 [GRCh38] Chr5:73985159 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.495T>C (p.Val165=) |
single nucleotide variant |
Sandhoff disease [RCV003076262] |
Chr5:74693688 [GRCh38] Chr5:73989513 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1276G>C (p.Asp426His) |
single nucleotide variant |
Sandhoff disease [RCV003098915] |
Chr5:74718830 [GRCh38] Chr5:74014655 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.261G>A (p.Ala87=) |
single nucleotide variant |
Sandhoff disease [RCV003076548] |
Chr5:74685521 [GRCh38] Chr5:73981346 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser) |
single nucleotide variant |
Sandhoff disease [RCV003077083] |
Chr5:74689453 [GRCh38] Chr5:73985278 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter) |
single nucleotide variant |
Sandhoff disease [RCV002819878] |
Chr5:74713628 [GRCh38] Chr5:74009453 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.7C>T (p.Leu3=) |
single nucleotide variant |
Sandhoff disease [RCV002779997] |
Chr5:74685267 [GRCh38] Chr5:73981092 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg) |
single nucleotide variant |
Sandhoff disease [RCV002726224] |
Chr5:74718806 [GRCh38] Chr5:74014631 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser) |
single nucleotide variant |
Sandhoff disease [RCV002947833] |
Chr5:74685420 [GRCh38] Chr5:73981245 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.670-10T>C |
single nucleotide variant |
Sandhoff disease [RCV002815604] |
Chr5:74705209 [GRCh38] Chr5:74001034 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.408G>A (p.Glu136=) |
single nucleotide variant |
Sandhoff disease [RCV002881656] |
Chr5:74689436 [GRCh38] Chr5:73985261 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu) |
single nucleotide variant |
Sandhoff disease [RCV003075400] |
Chr5:74713601 [GRCh38] Chr5:74009426 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.446-4A>G |
single nucleotide variant |
Sandhoff disease [RCV002994502] |
Chr5:74693635 [GRCh38] Chr5:73989460 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.250A>C (p.Asn84His) |
single nucleotide variant |
Sandhoff disease [RCV003076174] |
Chr5:74685510 [GRCh38] Chr5:73981335 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.165G>T (p.Ala55=) |
single nucleotide variant |
Sandhoff disease [RCV002863647] |
Chr5:74685425 [GRCh38] Chr5:73981250 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.387C>G (p.Val129=) |
single nucleotide variant |
Sandhoff disease [RCV003076661] |
Chr5:74689415 [GRCh38] Chr5:73985240 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1614-9T>C |
single nucleotide variant |
Sandhoff disease [RCV003038458] |
Chr5:74721109 [GRCh38] Chr5:74016934 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.646G>A (p.Val216Ile) |
single nucleotide variant |
Sandhoff disease [RCV002780635] |
Chr5:74697083 [GRCh38] Chr5:73992908 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.445+8C>T |
single nucleotide variant |
Sandhoff disease [RCV003039433] |
Chr5:74689481 [GRCh38] Chr5:73985306 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.875dup (p.Gly293fs) |
duplication |
Sandhoff disease [RCV002871343] |
Chr5:74713605..74713606 [GRCh38] Chr5:74009430..74009431 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.822G>C (p.Val274=) |
single nucleotide variant |
Sandhoff disease [RCV002800058] |
Chr5:74713556 [GRCh38] Chr5:74009381 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.52C>T (p.Leu18=) |
single nucleotide variant |
Sandhoff disease [RCV002848143] |
Chr5:74685312 [GRCh38] Chr5:73981137 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.858G>T (p.Leu286=) |
single nucleotide variant |
Sandhoff disease [RCV002871127] |
Chr5:74713592 [GRCh38] Chr5:74009417 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp) |
single nucleotide variant |
Sandhoff disease [RCV002756836] |
Chr5:74718807 [GRCh38] Chr5:74014632 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu) |
single nucleotide variant |
Sandhoff disease [RCV002785653] |
Chr5:74685292 [GRCh38] Chr5:73981117 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.164C>T (p.Ala55Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003162052]|Sandhoff disease [RCV002637726] |
Chr5:74685424 [GRCh38] Chr5:73981249 [GRCh37] Chr5:5q13.3 |
likely benign|uncertain significance |
NM_000521.4(HEXB):c.771+10T>C |
single nucleotide variant |
Sandhoff disease [RCV003077654] |
Chr5:74705330 [GRCh38] Chr5:74001155 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln) |
single nucleotide variant |
Sandhoff disease [RCV003035910] |
Chr5:74685310 [GRCh38] Chr5:73981135 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr) |
single nucleotide variant |
Sandhoff disease [RCV002636896] |
Chr5:74685496 [GRCh38] Chr5:73981321 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys) |
single nucleotide variant |
Sandhoff disease [RCV003079671] |
Chr5:74685529 [GRCh38] Chr5:73981354 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.558+10A>G |
single nucleotide variant |
Sandhoff disease [RCV002659519] |
Chr5:74696749 [GRCh38] Chr5:73992574 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1581C>T (p.Asp527=) |
single nucleotide variant |
Sandhoff disease [RCV002691001] |
Chr5:74720715 [GRCh38] Chr5:74016540 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.231C>T (p.Phe77=) |
single nucleotide variant |
Sandhoff disease [RCV002781320] |
Chr5:74685491 [GRCh38] Chr5:73981316 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr) |
single nucleotide variant |
Sandhoff disease [RCV003077662] |
Chr5:74705319 [GRCh38] Chr5:74001144 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.444T>G (p.Ser148=) |
single nucleotide variant |
Sandhoff disease [RCV003078366] |
Chr5:74689472 [GRCh38] Chr5:73985297 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.181C>T (p.Leu61Phe) |
single nucleotide variant |
Sandhoff disease [RCV003001951] |
Chr5:74685441 [GRCh38] Chr5:73981266 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1050T>C (p.His350=) |
single nucleotide variant |
Sandhoff disease [RCV002867026] |
Chr5:74715658 [GRCh38] Chr5:74011483 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.811G>A (p.Val271Ile) |
single nucleotide variant |
Sandhoff disease [RCV003079900] |
Chr5:74713545 [GRCh38] Chr5:74009370 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.234C>T (p.Tyr78=) |
single nucleotide variant |
Sandhoff disease [RCV002591440] |
Chr5:74685494 [GRCh38] Chr5:73981319 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.758del (p.Glu253fs) |
deletion |
Sandhoff disease [RCV003020686] |
Chr5:74705307 [GRCh38] Chr5:74001132 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1613+15_1613+19dup |
duplication |
Sandhoff disease [RCV002785271] |
Chr5:74720761..74720762 [GRCh38] Chr5:74016586..74016587 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp) |
single nucleotide variant |
Sandhoff disease [RCV003055316] |
Chr5:74705229 [GRCh38] Chr5:74001054 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003089561]|Sandhoff disease [RCV003078641] |
Chr5:74718830 [GRCh38] Chr5:74014655 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1327G>A (p.Val443Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002782955] |
Chr5:74718881 [GRCh38] Chr5:74014706 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser) |
single nucleotide variant |
Sandhoff disease [RCV003100183] |
Chr5:74693681 [GRCh38] Chr5:73989506 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.446-12T>C |
single nucleotide variant |
Sandhoff disease [RCV002870759] |
Chr5:74693627 [GRCh38] Chr5:73989452 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.559-1G>A |
single nucleotide variant |
Sandhoff disease [RCV002923314] |
Chr5:74696995 [GRCh38] Chr5:73992820 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.710A>G (p.His237Arg) |
single nucleotide variant |
Sandhoff disease [RCV002638100] |
Chr5:74705259 [GRCh38] Chr5:74001084 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg) |
single nucleotide variant |
Sandhoff disease [RCV002592841] |
Chr5:74720475 [GRCh38] Chr5:74016300 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1569T>C (p.Asp523=) |
single nucleotide variant |
Sandhoff disease [RCV002870973] |
Chr5:74720703 [GRCh38] Chr5:74016528 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1169+5G>C |
single nucleotide variant |
Sandhoff disease [RCV002918340] |
Chr5:74716678 [GRCh38] Chr5:74012503 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1654A>C (p.Asn552His) |
single nucleotide variant |
Inborn genetic diseases [RCV002830974] |
Chr5:74721158 [GRCh38] Chr5:74016983 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.810T>C (p.Asp270=) |
single nucleotide variant |
Sandhoff disease [RCV003043609] |
Chr5:74713544 [GRCh38] Chr5:74009369 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_001292004.2(HEXB):c.-376-4189C>T |
single nucleotide variant |
Sandhoff disease [RCV002958911] |
Chr5:74685139 [GRCh38] Chr5:73980964 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.534_537del (p.Leu178fs) |
microsatellite |
Sandhoff disease [RCV002640733] |
Chr5:74696711..74696714 [GRCh38] Chr5:73992536..73992539 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1416C>T (p.Gly472=) |
single nucleotide variant |
Sandhoff disease [RCV002643832] |
Chr5:74718970 [GRCh38] Chr5:74014795 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1066G>A (p.Val356Met) |
single nucleotide variant |
Sandhoff disease [RCV002644527] |
Chr5:74715674 [GRCh38] Chr5:74011499 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1508+6G>C |
single nucleotide variant |
Sandhoff disease [RCV003084038] |
Chr5:74720524 [GRCh38] Chr5:74016349 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe) |
single nucleotide variant |
Sandhoff disease [RCV002851422] |
Chr5:74720502 [GRCh38] Chr5:74016327 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1398G>A (p.Val466=) |
single nucleotide variant |
Sandhoff disease [RCV002663985] |
Chr5:74718952 [GRCh38] Chr5:74014777 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.817A>G (p.Met273Val) |
single nucleotide variant |
Sandhoff disease [RCV003005313] |
Chr5:74713551 [GRCh38] Chr5:74009376 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.300-4dup |
duplication |
Sandhoff disease [RCV002890104] |
Chr5:74689321..74689322 [GRCh38] Chr5:73985146..73985147 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter) |
single nucleotide variant |
Sandhoff disease [RCV002740583] |
Chr5:74718337 [GRCh38] Chr5:74014162 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.190A>G (p.Lys64Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002763472] |
Chr5:74685450 [GRCh38] Chr5:73981275 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1082+7T>C |
single nucleotide variant |
Sandhoff disease [RCV003057340] |
Chr5:74715697 [GRCh38] Chr5:74011522 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1107T>C (p.Asp369=) |
single nucleotide variant |
Sandhoff disease [RCV002745595] |
Chr5:74716611 [GRCh38] Chr5:74012436 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002786753]|Sandhoff disease [RCV002800630]|not provided [RCV003427507] |
Chr5:74697069 [GRCh38] Chr5:73992894 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.558+7A>G |
single nucleotide variant |
Sandhoff disease [RCV002805253] |
Chr5:74696746 [GRCh38] Chr5:73992571 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1284A>G (p.Ala428=) |
single nucleotide variant |
Sandhoff disease [RCV003056457] |
Chr5:74718838 [GRCh38] Chr5:74014663 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1243-9C>A |
single nucleotide variant |
Sandhoff disease [RCV003039941] |
Chr5:74718788 [GRCh38] Chr5:74014613 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly) |
single nucleotide variant |
Sandhoff disease [RCV002644344] |
Chr5:74720737 [GRCh38] Chr5:74016562 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1134A>G (p.Thr378=) |
single nucleotide variant |
Sandhoff disease [RCV003083341] |
Chr5:74716638 [GRCh38] Chr5:74012463 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1464A>G (p.Leu488=) |
single nucleotide variant |
Sandhoff disease [RCV002852987] |
Chr5:74720474 [GRCh38] Chr5:74016299 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs) |
deletion |
Sandhoff disease [RCV002594449] |
Chr5:74720440..74720441 [GRCh38] Chr5:74016265..74016266 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys) |
single nucleotide variant |
Sandhoff disease [RCV003084431] |
Chr5:74689361 [GRCh38] Chr5:73985186 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter) |
single nucleotide variant |
Sandhoff disease [RCV002875685] |
Chr5:74715545 [GRCh38] Chr5:74011370 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.120G>A (p.Ala40=) |
single nucleotide variant |
Sandhoff disease [RCV003083479] |
Chr5:74685380 [GRCh38] Chr5:73981205 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.21G>A (p.Gly7=) |
single nucleotide variant |
Sandhoff disease [RCV002871689] |
Chr5:74685281 [GRCh38] Chr5:73981106 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1593G>A (p.Arg531=) |
single nucleotide variant |
Sandhoff disease [RCV003010314] |
Chr5:74720727 [GRCh38] Chr5:74016552 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg) |
single nucleotide variant |
Sandhoff disease [RCV002833279] |
Chr5:74689437 [GRCh38] Chr5:73985262 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.790C>T (p.His264Tyr) |
single nucleotide variant |
Sandhoff disease [RCV003048491] |
Chr5:74713524 [GRCh38] Chr5:74009349 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala) |
single nucleotide variant |
Sandhoff disease [RCV002900554] |
Chr5:74715530 [GRCh38] Chr5:74011355 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1605G>A (p.Arg535=) |
single nucleotide variant |
Sandhoff disease [RCV003045992] |
Chr5:74720739 [GRCh38] Chr5:74016564 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1048C>G (p.His350Asp) |
single nucleotide variant |
Sandhoff disease [RCV002627930] |
Chr5:74715656 [GRCh38] Chr5:74011481 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=) |
single nucleotide variant |
Sandhoff disease [RCV002579759] |
Chr5:74720486 [GRCh38] Chr5:74016311 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.321T>A (p.Gly107=) |
single nucleotide variant |
Sandhoff disease [RCV003089778] |
Chr5:74689349 [GRCh38] Chr5:73985174 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys) |
single nucleotide variant |
Sandhoff disease [RCV002628427] |
Chr5:74696720 [GRCh38] Chr5:73992545 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1104A>C (p.Gln368His) |
single nucleotide variant |
Inborn genetic diseases [RCV003068291]|Sandhoff disease [RCV003062914] |
Chr5:74716608 [GRCh38] Chr5:74012433 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg) |
single nucleotide variant |
Sandhoff disease [RCV002746567] |
Chr5:74713578 [GRCh38] Chr5:74009403 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1005A>G (p.Thr335=) |
single nucleotide variant |
Sandhoff disease [RCV002810067]|not provided [RCV003326638] |
Chr5:74715613 [GRCh38] Chr5:74011438 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.924A>C (p.Pro308=) |
single nucleotide variant |
Sandhoff disease [RCV003046733] |
Chr5:74715532 [GRCh38] Chr5:74011357 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.96G>C (p.Gln32His) |
single nucleotide variant |
Sandhoff disease [RCV002806423] |
Chr5:74685356 [GRCh38] Chr5:73981181 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.166C>T (p.Leu56=) |
single nucleotide variant |
Sandhoff disease [RCV002805970] |
Chr5:74685426 [GRCh38] Chr5:73981251 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1242+3G>A |
single nucleotide variant |
Sandhoff disease [RCV002671463] |
Chr5:74718366 [GRCh38] Chr5:74014191 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.516A>G (p.Leu172=) |
single nucleotide variant |
Sandhoff disease [RCV002876929] |
Chr5:74696697 [GRCh38] Chr5:73992522 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile) |
single nucleotide variant |
Sandhoff disease [RCV002646614] |
Chr5:74716637 [GRCh38] Chr5:74012462 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.117G>T (p.Val39=) |
single nucleotide variant |
Sandhoff disease [RCV003030323]|not provided [RCV003222455] |
Chr5:74685377 [GRCh38] Chr5:73981202 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-10T>C |
single nucleotide variant |
Sandhoff disease [RCV002857678] |
Chr5:74720633 [GRCh38] Chr5:74016458 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.15G>T (p.Gly5=) |
single nucleotide variant |
Sandhoff disease [RCV003026421] |
Chr5:74685275 [GRCh38] Chr5:73981100 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.565A>G (p.Ile189Val) |
single nucleotide variant |
Sandhoff disease [RCV003087528] |
Chr5:74697002 [GRCh38] Chr5:73992827 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter) |
single nucleotide variant |
Sandhoff disease [RCV003087850] |
Chr5:74721149 [GRCh38] Chr5:74016974 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu) |
single nucleotide variant |
Sandhoff disease [RCV002579001] |
Chr5:74685280 [GRCh38] Chr5:73981105 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1509-8A>T |
single nucleotide variant |
Sandhoff disease [RCV002961891] |
Chr5:74720635 [GRCh38] Chr5:74016460 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe) |
single nucleotide variant |
Sandhoff disease [RCV003046519] |
Chr5:74715661 [GRCh38] Chr5:74011486 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1242+9dup |
duplication |
Sandhoff disease [RCV003031662] |
Chr5:74718370..74718371 [GRCh38] Chr5:74014195..74014196 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1611C>T (p.Val537=) |
single nucleotide variant |
Sandhoff disease [RCV002580668] |
Chr5:74720745 [GRCh38] Chr5:74016570 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1335T>G (p.Leu445=) |
single nucleotide variant |
Sandhoff disease [RCV003090627] |
Chr5:74718889 [GRCh38] Chr5:74014714 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.801A>G (p.Thr267=) |
single nucleotide variant |
Sandhoff disease [RCV003051965] |
Chr5:74713535 [GRCh38] Chr5:74009360 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr) |
single nucleotide variant |
Sandhoff disease [RCV003050796] |
Chr5:74685549 [GRCh38] Chr5:73981374 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.522C>A (p.Thr174=) |
single nucleotide variant |
Sandhoff disease [RCV003049656] |
Chr5:74696703 [GRCh38] Chr5:73992528 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+17G>T |
single nucleotide variant |
Sandhoff disease [RCV003051215] |
Chr5:74720764 [GRCh38] Chr5:74016589 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.587A>T (p.Asp196Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002723230] |
Chr5:74697024 [GRCh38] Chr5:73992849 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.219C>A (p.Ala73=) |
single nucleotide variant |
Sandhoff disease [RCV003066980] |
Chr5:74685479 [GRCh38] Chr5:73981304 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser) |
single nucleotide variant |
Sandhoff disease [RCV003051218] |
Chr5:74685378 [GRCh38] Chr5:73981203 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.63A>G (p.Thr21=) |
single nucleotide variant |
Sandhoff disease [RCV002653277] |
Chr5:74685323 [GRCh38] Chr5:73981148 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly) |
single nucleotide variant |
Sandhoff disease [RCV002611300] |
Chr5:74720482 [GRCh38] Chr5:74016307 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp) |
single nucleotide variant |
Sandhoff disease [RCV002611855] |
Chr5:74685390 [GRCh38] Chr5:73981215 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.514T>G (p.Leu172Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003186063] |
Chr5:74696695 [GRCh38] Chr5:73992520 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.771+985G>A |
single nucleotide variant |
Sandhoff disease [RCV003135564] |
Chr5:74706305 [GRCh38] Chr5:74002130 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.512G>T (p.Gly171Val) |
single nucleotide variant |
Sandhoff disease [RCV003135565] |
Chr5:74696693 [GRCh38] Chr5:73992518 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.34C>T (p.Pro12Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003198066] |
Chr5:74685294 [GRCh38] Chr5:73981119 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1181T>G (p.Ile394Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003184433] |
Chr5:74718302 [GRCh38] Chr5:74014127 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1170-16T>G |
single nucleotide variant |
Sandhoff disease [RCV003502763] |
Chr5:74718275 [GRCh38] Chr5:74014100 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+4A>G |
single nucleotide variant |
not specified [RCV003324393] |
Chr5:74720751 [GRCh38] Chr5:74016576 [GRCh37] Chr5:5q13.3 |
uncertain significance |
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0 |
copy number loss |
Sandhoff disease [RCV003327708] |
Chr5:74695284..74702264 [GRCh38] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.427A>C (p.Ile143Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003360248] |
Chr5:74689455 [GRCh38] Chr5:73985280 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.158G>A (p.Gly53Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003367384] |
Chr5:74685418 [GRCh38] Chr5:73981243 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs) |
deletion |
Sandhoff disease [RCV003333376] |
Chr5:74720444..74720445 [GRCh38] Chr5:74016269..74016270 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1559G>C (p.Arg520Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003373503] |
Chr5:74720693 [GRCh38] Chr5:74016518 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.755C>G (p.Pro252Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003362243] |
Chr5:74705304 [GRCh38] Chr5:74001129 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.594A>G (p.Pro198=) |
single nucleotide variant |
Sandhoff disease [RCV003503270] |
Chr5:74697031 [GRCh38] Chr5:73992856 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.591T>C (p.Ser197=) |
single nucleotide variant |
Sandhoff disease [RCV003503166] |
Chr5:74697028 [GRCh38] Chr5:73992853 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1418-11T>C |
single nucleotide variant |
Sandhoff disease [RCV003503398] |
Chr5:74720417 [GRCh38] Chr5:74016242 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer) |
deletion |
Sandhoff disease [RCV003503922] |
Chr5:74720710..74720711 [GRCh38] Chr5:74016535..74016536 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1242+10G>A |
single nucleotide variant |
Sandhoff disease [RCV003504012] |
Chr5:74718373 [GRCh38] Chr5:74014198 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.729T>C (p.Ser243=) |
single nucleotide variant |
Sandhoff disease [RCV003503470] |
Chr5:74705278 [GRCh38] Chr5:74001103 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1243-18A>C |
single nucleotide variant |
Sandhoff disease [RCV003880100] |
Chr5:74718779 [GRCh38] Chr5:74014604 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-9T>A |
single nucleotide variant |
Sandhoff disease [RCV003503511] |
Chr5:74718282 [GRCh38] Chr5:74014107 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.699T>C (p.Val233=) |
single nucleotide variant |
Sandhoff disease [RCV003503685] |
Chr5:74705248 [GRCh38] Chr5:74001073 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.299+12C>T |
single nucleotide variant |
Sandhoff disease [RCV003504468] |
Chr5:74685571 [GRCh38] Chr5:73981396 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+14T>A |
single nucleotide variant |
Sandhoff disease [RCV003503635] |
Chr5:74720761 [GRCh38] Chr5:74016586 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.771+20C>G |
single nucleotide variant |
Sandhoff disease [RCV003503803] |
Chr5:74705340 [GRCh38] Chr5:74001165 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.267C>T (p.Pro89=) |
single nucleotide variant |
Sandhoff disease [RCV003503877] |
Chr5:74685527 [GRCh38] Chr5:73981352 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.535_538del (p.Val179fs) |
deletion |
Sandhoff disease [RCV003503918] |
Chr5:74696716..74696719 [GRCh38] Chr5:73992541..73992544 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1613+11T>G |
single nucleotide variant |
Sandhoff disease [RCV003504413] |
Chr5:74720758 [GRCh38] Chr5:74016583 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.299+19G>A |
single nucleotide variant |
Sandhoff disease [RCV003503851] |
Chr5:74685578 [GRCh38] Chr5:73981403 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.445+16A>G |
single nucleotide variant |
Sandhoff disease [RCV003504108] |
Chr5:74689489 [GRCh38] Chr5:73985314 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.511+14A>G |
single nucleotide variant |
Sandhoff disease [RCV003875158] |
Chr5:74693718 [GRCh38] Chr5:73989543 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1169+18C>T |
single nucleotide variant |
Sandhoff disease [RCV003504414] |
Chr5:74716691 [GRCh38] Chr5:74012516 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.669+12C>T |
single nucleotide variant |
Sandhoff disease [RCV003504372] |
Chr5:74697118 [GRCh38] Chr5:73992943 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1418-18_1418-14del |
deletion |
Sandhoff disease [RCV003504310] |
Chr5:74720407..74720411 [GRCh38] Chr5:74016232..74016236 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1158C>T (p.Phe386=) |
single nucleotide variant |
Sandhoff disease [RCV003502957] |
Chr5:74716662 [GRCh38] Chr5:74012487 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1083-6C>G |
single nucleotide variant |
Sandhoff disease [RCV003503095] |
Chr5:74716581 [GRCh38] Chr5:74012406 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.558+18_558+19del |
microsatellite |
Sandhoff disease [RCV003874808] |
Chr5:74696754..74696755 [GRCh38] Chr5:73992579..73992580 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1626T>C (p.Ala542=) |
single nucleotide variant |
Sandhoff disease [RCV003502988] |
Chr5:74721130 [GRCh38] Chr5:74016955 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.558+16A>T |
single nucleotide variant |
Sandhoff disease [RCV003503154] |
Chr5:74696755 [GRCh38] Chr5:73992580 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1191C>T (p.Thr397=) |
single nucleotide variant |
Sandhoff disease [RCV003502882] |
Chr5:74718312 [GRCh38] Chr5:74014137 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1418-21_1418-19del |
deletion |
Sandhoff disease [RCV003503432] |
Chr5:74720406..74720408 [GRCh38] Chr5:74016231..74016233 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.670-14A>T |
single nucleotide variant |
Sandhoff disease [RCV003502885] |
Chr5:74705205 [GRCh38] Chr5:74001030 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.441G>A (p.Glu147=) |
single nucleotide variant |
Sandhoff disease [RCV003503014] |
Chr5:74689469 [GRCh38] Chr5:73985294 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-11T>G |
single nucleotide variant |
Sandhoff disease [RCV003502995] |
Chr5:74718280 [GRCh38] Chr5:74014105 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.772-2A>C |
single nucleotide variant |
Sandhoff disease [RCV003503009] |
Chr5:74713504 [GRCh38] Chr5:74009329 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.445+12T>G |
single nucleotide variant |
Sandhoff disease [RCV003503180] |
Chr5:74689485 [GRCh38] Chr5:73985310 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.670-13T>C |
single nucleotide variant |
Sandhoff disease [RCV003503063] |
Chr5:74705206 [GRCh38] Chr5:74001031 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-12T>A |
single nucleotide variant |
Sandhoff disease [RCV003503361] |
Chr5:74720631 [GRCh38] Chr5:74016456 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1509-21_1509-13del |
deletion |
Sandhoff disease [RCV003503363] |
Chr5:74720622..74720630 [GRCh38] Chr5:74016447..74016455 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter) |
single nucleotide variant |
Sandhoff disease [RCV003503384] |
Chr5:74689467 [GRCh38] Chr5:73985292 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1489A>C (p.Asn497His) |
single nucleotide variant |
Sandhoff disease [RCV003448834] |
Chr5:74720499 [GRCh38] Chr5:74016324 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.534A>G (p.Leu178=) |
single nucleotide variant |
Sandhoff disease [RCV003609401] |
Chr5:74696715 [GRCh38] Chr5:73992540 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1377T>C (p.Asp459=) |
single nucleotide variant |
Sandhoff disease [RCV003609433] |
Chr5:74718931 [GRCh38] Chr5:74014756 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.445+12T>C |
single nucleotide variant |
Sandhoff disease [RCV003609943] |
Chr5:74689485 [GRCh38] Chr5:73985310 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1303del (p.Arg435fs) |
deletion |
Sandhoff disease [RCV003610078] |
Chr5:74718857 [GRCh38] Chr5:74014682 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter) |
single nucleotide variant |
Sandhoff disease [RCV003610193] |
Chr5:74713627 [GRCh38] Chr5:74009452 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.147G>A (p.Ser49=) |
single nucleotide variant |
Sandhoff disease [RCV003609994] |
Chr5:74685407 [GRCh38] Chr5:73981232 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.759G>A (p.Glu253=) |
single nucleotide variant |
Sandhoff disease [RCV003609502] |
Chr5:74705308 [GRCh38] Chr5:74001133 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1082+13C>A |
single nucleotide variant |
Sandhoff disease [RCV003610087] |
Chr5:74715703 [GRCh38] Chr5:74011528 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-5A>C |
single nucleotide variant |
Sandhoff disease [RCV003831686] |
Chr5:74718286 [GRCh38] Chr5:74014111 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-16T>A |
single nucleotide variant |
Sandhoff disease [RCV003610202] |
Chr5:74718275 [GRCh38] Chr5:74014100 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr) |
single nucleotide variant |
Sandhoff disease [RCV003609961] |
Chr5:74720707 [GRCh38] Chr5:74016532 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1629A>G (p.Ala543=) |
single nucleotide variant |
Sandhoff disease [RCV003610213] |
Chr5:74721133 [GRCh38] Chr5:74016958 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+7_1613+21dup |
duplication |
Sandhoff disease [RCV003609518] |
Chr5:74720752..74720753 [GRCh38] Chr5:74016577..74016578 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1314A>G (p.Ala438=) |
single nucleotide variant |
Sandhoff disease [RCV003609062] |
Chr5:74718868 [GRCh38] Chr5:74014693 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter) |
single nucleotide variant |
Sandhoff disease [RCV003609651] |
Chr5:74705256 [GRCh38] Chr5:74001081 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1170-18A>C |
single nucleotide variant |
Sandhoff disease [RCV003609726] |
Chr5:74718273 [GRCh38] Chr5:74014098 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.477C>T (p.Val159=) |
single nucleotide variant |
Sandhoff disease [RCV003608919] |
Chr5:74693670 [GRCh38] Chr5:73989495 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.901+8G>C |
single nucleotide variant |
Sandhoff disease [RCV003610134] |
Chr5:74713643 [GRCh38] Chr5:74009468 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1082+20C>G |
single nucleotide variant |
Sandhoff disease [RCV003609428] |
Chr5:74715710 [GRCh38] Chr5:74011535 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1479G>A (p.Val493=) |
single nucleotide variant |
Sandhoff disease [RCV003609504] |
Chr5:74720489 [GRCh38] Chr5:74016314 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs) |
duplication |
Sandhoff disease [RCV003609864] |
Chr5:74720471..74720472 [GRCh38] Chr5:74016296..74016297 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.102G>T (p.Ala34=) |
single nucleotide variant |
Sandhoff disease [RCV003609866] |
Chr5:74685362 [GRCh38] Chr5:73981187 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.64C>T (p.Leu22=) |
single nucleotide variant |
Sandhoff disease [RCV003610031] |
Chr5:74685324 [GRCh38] Chr5:73981149 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.711C>T (p.His237=) |
single nucleotide variant |
Sandhoff disease [RCV003609527] |
Chr5:74705260 [GRCh38] Chr5:74001085 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-11del |
deletion |
Sandhoff disease [RCV003609879] |
Chr5:74718274 [GRCh38] Chr5:74014099 [GRCh37] Chr5:5q13.3 |
benign |
NM_000521.4(HEXB):c.630C>T (p.Ser210=) |
single nucleotide variant |
Sandhoff disease [RCV003610305] |
Chr5:74697067 [GRCh38] Chr5:73992892 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.902-15A>C |
single nucleotide variant |
Sandhoff disease [RCV003609322] |
Chr5:74715495 [GRCh38] Chr5:74011320 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs) |
microsatellite |
Sandhoff disease [RCV003494058] |
Chr5:74720486..74720487 [GRCh38] Chr5:74016311..74016312 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.511+7T>C |
single nucleotide variant |
Sandhoff disease [RCV003609746] |
Chr5:74693711 [GRCh38] Chr5:73989536 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1251G>C (p.Pro417=) |
single nucleotide variant |
Sandhoff disease [RCV003608658] |
Chr5:74718805 [GRCh38] Chr5:74014630 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1365C>T (p.Ser455=) |
single nucleotide variant |
Sandhoff disease [RCV003609094] |
Chr5:74718919 [GRCh38] Chr5:74014744 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs) |
deletion |
Sandhoff disease [RCV003608730] |
Chr5:74718842..74718848 [GRCh38] Chr5:74014667..74014673 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.282G>A (p.Leu94=) |
single nucleotide variant |
Sandhoff disease [RCV003608735] |
Chr5:74685542 [GRCh38] Chr5:73981367 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1083-12T>G |
single nucleotide variant |
Sandhoff disease [RCV003608705] |
Chr5:74716575 [GRCh38] Chr5:74012400 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1169+1G>A |
single nucleotide variant |
Sandhoff disease [RCV003608832] |
Chr5:74716674 [GRCh38] Chr5:74012499 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.1613+13_1613+15del |
deletion |
Sandhoff disease [RCV003876405] |
Chr5:74720758..74720760 [GRCh38] Chr5:74016583..74016585 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn) |
single nucleotide variant |
Sandhoff disease [RCV003494059] |
Chr5:74720484 [GRCh38] Chr5:74016309 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1083-15C>A |
single nucleotide variant |
Sandhoff disease [RCV003829046] |
Chr5:74716572 [GRCh38] Chr5:74012397 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1575C>T (p.Ala525=) |
single nucleotide variant |
Sandhoff disease [RCV003609009] |
Chr5:74720709 [GRCh38] Chr5:74016534 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs) |
duplication |
Sandhoff disease [RCV003880834] |
Chr5:74713564..74713565 [GRCh38] Chr5:74009389..74009390 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1635T>G (p.Pro545=) |
single nucleotide variant |
Sandhoff disease [RCV003608700] |
Chr5:74721139 [GRCh38] Chr5:74016964 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1169+8G>A |
single nucleotide variant |
Sandhoff disease [RCV003608688] |
Chr5:74716681 [GRCh38] Chr5:74012506 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1469dup (p.Glu491fs) |
duplication |
Sandhoff disease [RCV003608756] |
Chr5:74720475..74720476 [GRCh38] Chr5:74016300..74016301 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.1418-16A>G |
single nucleotide variant |
Sandhoff disease [RCV003609762] |
Chr5:74720412 [GRCh38] Chr5:74016237 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+5_1613+10del |
deletion |
not specified [RCV003490885] |
Chr5:74720752..74720757 [GRCh38] Chr5:74016577..74016582 [GRCh37] Chr5:5q13.3 |
uncertain significance |
NM_000521.4(HEXB):c.1243-20G>A |
single nucleotide variant |
Sandhoff disease [RCV003608802] |
Chr5:74718777 [GRCh38] Chr5:74014602 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.511+10A>G |
single nucleotide variant |
Sandhoff disease [RCV003609511] |
Chr5:74693714 [GRCh38] Chr5:73989539 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.300-6A>G |
single nucleotide variant |
Sandhoff disease [RCV003609344] |
Chr5:74689322 [GRCh38] Chr5:73985147 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.299+18G>T |
single nucleotide variant |
Sandhoff disease [RCV003609646] |
Chr5:74685577 [GRCh38] Chr5:73981402 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.772-12T>C |
single nucleotide variant |
Sandhoff disease [RCV003877002] |
Chr5:74713494 [GRCh38] Chr5:74009319 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+19C>G |
single nucleotide variant |
Sandhoff disease [RCV003609052] |
Chr5:74720766 [GRCh38] Chr5:74016591 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1125C>T (p.Gly375=) |
single nucleotide variant |
Sandhoff disease [RCV003609057] |
Chr5:74716629 [GRCh38] Chr5:74012454 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.114G>A (p.Gln38=) |
single nucleotide variant |
Sandhoff disease [RCV003609407] |
Chr5:74685374 [GRCh38] Chr5:73981199 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg) |
single nucleotide variant |
Sandhoff disease [RCV003609102] |
Chr5:74715533 [GRCh38] Chr5:74011358 [GRCh37] Chr5:5q13.3 |
likely pathogenic |
NM_000521.4(HEXB):c.771+17G>C |
single nucleotide variant |
Sandhoff disease [RCV003609412] |
Chr5:74705337 [GRCh38] Chr5:74001162 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+15_1613+16dup |
duplication |
Sandhoff disease [RCV003608720] |
Chr5:74720761..74720762 [GRCh38] Chr5:74016586..74016587 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-10G>A |
single nucleotide variant |
Sandhoff disease [RCV003608726] |
Chr5:74718281 [GRCh38] Chr5:74014106 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1418-15A>T |
single nucleotide variant |
Sandhoff disease [RCV003609118] |
Chr5:74720413 [GRCh38] Chr5:74016238 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1350C>T (p.Tyr450=) |
single nucleotide variant |
Sandhoff disease [RCV003609137] |
Chr5:74718904 [GRCh38] Chr5:74014729 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1320C>T (p.Gly440=) |
single nucleotide variant |
Sandhoff disease [RCV003610534] |
Chr5:74718874 [GRCh38] Chr5:74014699 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.669+16A>G |
single nucleotide variant |
Sandhoff disease [RCV003610481] |
Chr5:74697122 [GRCh38] Chr5:73992947 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.771+20C>T |
single nucleotide variant |
Sandhoff disease [RCV003810634] |
Chr5:74705340 [GRCh38] Chr5:74001165 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.512-18A>G |
single nucleotide variant |
Sandhoff disease [RCV003610882] |
Chr5:74696675 [GRCh38] Chr5:73992500 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-17T>A |
single nucleotide variant |
Sandhoff disease [RCV003610914] |
Chr5:74718274 [GRCh38] Chr5:74014099 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1614-6C>T |
single nucleotide variant |
Sandhoff disease [RCV003610993] |
Chr5:74721112 [GRCh38] Chr5:74016937 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1508+11T>C |
single nucleotide variant |
Sandhoff disease [RCV003610945] |
Chr5:74720529 [GRCh38] Chr5:74016354 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+19C>T |
single nucleotide variant |
Sandhoff disease [RCV003850896] |
Chr5:74720766 [GRCh38] Chr5:74016591 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1614-19_1614-18del |
deletion |
Sandhoff disease [RCV003833001] |
Chr5:74721098..74721099 [GRCh38] Chr5:74016923..74016924 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1617T>A (p.Arg539=) |
single nucleotide variant |
Sandhoff disease [RCV003610425] |
Chr5:74721121 [GRCh38] Chr5:74016946 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs) |
insertion |
Sandhoff disease [RCV003610537] |
Chr5:74718962..74718963 [GRCh38] Chr5:74014787..74014788 [GRCh37] Chr5:5q13.3 |
pathogenic |
NM_000521.4(HEXB):c.299+17C>G |
single nucleotide variant |
Sandhoff disease [RCV003610620] |
Chr5:74685576 [GRCh38] Chr5:73981401 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.559-18A>G |
single nucleotide variant |
Sandhoff disease [RCV003610731] |
Chr5:74696978 [GRCh38] Chr5:73992803 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1170-18A>T |
single nucleotide variant |
Sandhoff disease [RCV003610783] |
Chr5:74718273 [GRCh38] Chr5:74014098 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1613+8A>C |
single nucleotide variant |
Sandhoff disease [RCV003610400] |
Chr5:74720755 [GRCh38] Chr5:74016580 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.445+14C>T |
single nucleotide variant |
Sandhoff disease [RCV003610488] |
Chr5:74689487 [GRCh38] Chr5:73985312 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.446-21_446-14del |
deletion |
Sandhoff disease [RCV003610573] |
Chr5:74693618..74693625 [GRCh38] Chr5:73989443..73989450 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1508+15T>C |
single nucleotide variant |
Sandhoff disease [RCV003610575] |
Chr5:74720533 [GRCh38] Chr5:74016358 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.72G>A (p.Ala24=) |
single nucleotide variant |
Sandhoff disease [RCV003851617] |
Chr5:74685332 [GRCh38] Chr5:73981157 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1418-15A>G |
single nucleotide variant |
Sandhoff disease [RCV003610939] |
Chr5:74720413 [GRCh38] Chr5:74016238 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.558+19T>C |
single nucleotide variant |
Sandhoff disease [RCV003610902] |
Chr5:74696758 [GRCh38] Chr5:73992583 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1243-15T>C |
single nucleotide variant |
Sandhoff disease [RCV003610792] |
Chr5:74718782 [GRCh38] Chr5:74014607 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1242+18T>C |
single nucleotide variant |
Sandhoff disease [RCV003610935] |
Chr5:74718381 [GRCh38] Chr5:74014206 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.670-6T>C |
single nucleotide variant |
Sandhoff disease [RCV003610441] |
Chr5:74705213 [GRCh38] Chr5:74001038 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.60G>A (p.Ala20=) |
single nucleotide variant |
Sandhoff disease [RCV003610447] |
Chr5:74685320 [GRCh38] Chr5:73981145 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.1518A>C (p.Ala506=) |
single nucleotide variant |
Sandhoff disease [RCV003610495] |
Chr5:74720652 [GRCh38] Chr5:74016477 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.299+14G>A |
single nucleotide variant |
Sandhoff disease [RCV003610815] |
Chr5:74685573 [GRCh38] Chr5:73981398 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.9G>T (p.Leu3=) |
single nucleotide variant |
Sandhoff disease [RCV003610869] |
Chr5:74685269 [GRCh38] Chr5:73981094 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.511+16T>G |
single nucleotide variant |
Sandhoff disease [RCV003610986] |
Chr5:74693720 [GRCh38] Chr5:73989545 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.888A>C (p.Leu296=) |
single nucleotide variant |
Sandhoff disease [RCV003610396] |
Chr5:74713622 [GRCh38] Chr5:74009447 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.300-18C>T |
single nucleotide variant |
Sandhoff disease [RCV003610743] |
Chr5:74689310 [GRCh38] Chr5:73985135 [GRCh37] Chr5:5q13.3 |
likely benign |
NM_000521.4(HEXB):c.264C>G (p.Gly88=) |
single nucleotide variant |
Sandhoff disease [RCV003610762] |
Chr5:74685524 [GRCh38] Chr5:73981349 [GRCh37] Chr5:5q13.3 |
likely benign |