NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)Pathogenic
Bloom syndrome|not provided|Hereditary cancer-predisposing syndrome|BLM-related disorder
β
β
ββ2026β Residue 736
NM_000057.4(BLM):c.3028del (p.Asp1010fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026β Residue 1010
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)Pathogenic
not provided|Bloom syndrome|Hereditary cancer-predisposing syndrome|BLM-related disorder|Colorectal cancer
β
β
ββ2026β Residue 548
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided|BLM-related disorder
β
β
ββ2026β Residue 836
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)Pathogenic
not provided|Bloom syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 899
NM_000057.4(BLM):c.3210+2delPathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026
NM_000057.4(BLM):c.1752del (p.Gln585fs)Pathogenic
Bloom syndrome|not provided
β
β
ββ2026β Residue 585
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)Pathogenic
Bloom syndrome
β
β
ββ2026β Residue 498
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)Pathogenic
Bloom syndrome
β
β
ββ2026β Residue 1027
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)Pathogenic
Bloom syndrome
β
β
ββ2026β Residue 704
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)Pathogenic
Bloom syndrome|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 700
NM_000057.4(BLM):c.772_773del (p.Leu258fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026β Residue 258
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided|BLM-related disorder
β
β
ββ2026β Residue 645
NM_000057.4(BLM):c.1544dup (p.Asn515fs)Pathogenic
Bloom syndrome|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026β Residue 515
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 1223
NM_000057.4(BLM):c.1968dup (p.Lys657fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026β Residue 657
NM_000057.4(BLM):c.3020-258A>GPathogenic
Bloom syndrome
β
β
ββ2026
NM_000057.4(BLM):c.511dup (p.Thr171fs)Pathogenic
Hereditary cancer-predisposing syndrome|Bloom syndrome
β
β
ββ2026β Residue 171
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 494
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 751