NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)Pathogenic
Tay-Sachs disease
β
β
ββ2026β Residue 485
NM_000520.6(HEXA):c.533G>A (p.Arg178His)Pathogenic
|Tay-Sachs disease, B1 variant|not provided|Tay-Sachs disease|Inborn genetic diseases|HEXA-related disorder|Global developmental delay
β
β
ββ2026β Residue 178
NM_000520.6(HEXA):c.459+5G>APathogenic
Tay-Sachs disease|not provided
β
β
ββ2026
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)Pathogenic
Tay-Sachs disease|Inborn genetic diseases|not provided
β
β
ββ2026β Residue 170
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)Pathogenic
Tay-Sachs disease
β
β
ββ2026β Residue 366
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)Pathogenic
not provided|Tay-Sachs disease
β
β
ββ2026β Residue 78
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)Pathogenic
Gm2-gangliosidosis, adult|Tay-Sachs disease|not provided|Inborn genetic diseases|HEXA-related disorder|Familial cancer of breast
β
β
ββ2026β Residue 269
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)Pathogenic
GM2-GANGLIOSIDOSIS, JUVENILE|Inborn genetic diseases|Tay-Sachs disease|not provided
β
β
ββ2026β Residue 499
NM_000520.6(HEXA):c.460-1G>TPathogenic
Tay-Sachs disease|not provided
β
β
ββ2026
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)Pathogenic
Tay-Sachs disease
β
β
ββ2026β Residue 322
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)Pathogenic
Tay-Sachs disease|not provided
β
β
ββ2026β Residue 420
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)Pathogenic
Tay-Sachs disease|not provided|Inborn genetic diseases|Tay-Sachs disease, variant AB;Tay-Sachs disease|Intellectual disability|HEXA-related disorder
β
β
ββ2026β Residue 427
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)Pathogenic
Tay-Sachs disease
β
β
ββ2026β Residue 114
NM_000520.6(HEXA):c.346+1G>TPathogenic
Tay-Sachs disease|Inborn genetic diseases
β
β
ββ2026
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)Likely pathogenic
Tay-Sachs disease|not provided|Inborn genetic diseases|HEXA-related disorder
β
β
ββ2026β Residue 465
NM_000520.6(HEXA):c.1073+1G>APathogenic
Tay-Sachs disease|not provided|Clear cell carcinoma of kidney|Thyroid cancer, nonmedullary, 1|Lung cancer|Acute myeloid leukemia|Familial cancer of breast|Inborn genetic diseases|HEXA-related disorder
β
β
ββ2026
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)Pathogenic
Tay-Sachs disease
β
β
ββ2026β Residue 47
NM_000520.6(HEXA):c.1421+1G>CPathogenic
Tay-Sachs disease|not provided|Sarcoma
β
β
ββ2026
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)Pathogenic
Tay-Sachs disease|not provided
β
β
ββ2026β Residue 393
NM_000520.6(HEXA):c.535C>T (p.His179Tyr)Pathogenic
Tay-Sachs disease
β
β
ββ2026β Residue 179