NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)Pathogenic
Ataxia-telangiectasia-like disorder 1|Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|not provided
β
β
ββ2026β Residue 633
NM_005591.4(MRE11):c.1927-1G>TLikely pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder
β
β
ββ2025
NM_005591.4(MRE11):c.295_298del (p.Val99fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β
β
ββ2025β Residue 99
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|not provided|Hereditary breast ovarian cancer syndrome
β
β
ββ2025β Residue 364
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|not provided|Colonic neoplasm
β
β
ββ2025β Residue 576
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β
β
ββ2025β Residue 169
NM_005591.4(MRE11):c.315-2A>GLikely pathogenic
Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder
β
β
ββ2025
NM_005591.4(MRE11):c.402+1G>ALikely pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β
β
ββ2025
NM_005591.4(MRE11):c.784del (p.Tyr262fs)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|not provided
β
β
ββ2025β Residue 262
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1|Hereditary breast ovarian cancer syndrome
β
β
ββ2025β Residue 506
NM_005591.4(MRE11):c.1867+2T>CPathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1|not provided
β
β
ββ2025
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)Pathogenic
Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β
β
ββ2025β Residue 630
NM_005591.4(MRE11):c.1927-2A>GPathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder 1|Ataxia-telangiectasia-like disorder|not provided
β
β
ββ2025
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β
β
ββ2025β Residue 511
NM_005591.4(MRE11):c.1326+2T>GLikely pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β
β
ββ2025
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Ataxia-telangiectasia-like disorder 1
β
β
ββ2025β Residue 77
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder|Acute myeloid leukemia|Ataxia-telangiectasia-like disorder 1
β
β
ββ2025β Residue 57
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs)Pathogenic
Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia-like disorder
β
β
ββ2024β Residue 482
NM_005591.4(MRE11):c.163_167del (p.Ile55fs)Pathogenic
Ataxia-telangiectasia-like disorder|Hereditary cancer-predisposing syndrome
β
β
ββ2024β Residue 55
NM_005591.4(MRE11):c.1742_1743insAT (p.Gln582fs)Likely pathogenic
not provided|Ataxia-telangiectasia-like disorder 1
β
β
ββ2024β Residue 582