NM_004260.4(RECQL4):c.1573del (p.Cys525fs)Pathogenic
Rothmund-Thomson syndrome|Rapadilino syndrome|Baller-Gerold syndrome|B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)|High grade surface osteosarcoma|Rothmund-Thomson syndrome type 2|not provided|Rapadilino syndrome;Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2|Inborn genetic diseases|RECQL4-related disorder
★★☆☆2026→ Residue 525
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)Pathogenic
not provided|RECQL4-related disorder|Rothmund-Thomson syndrome type 2|Baller-Gerold syndrome
★★☆☆2026→ Residue 523
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)Pathogenic
not provided|Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2|Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2;Rapadilino syndrome|RECQL4-related disorder
★★☆☆2026→ Residue 350
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)Pathogenic
Rapadilino syndrome|Baller-Gerold syndrome|not provided
★★☆☆2026→ Residue 466
NM_004260.4(RECQL4):c.2464-1G>CPathogenic
not provided|Baller-Gerold syndrome|Rapadilino syndrome;Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2|Rothmund-Thomson syndrome type 2|Sarcoma
★★☆☆2026
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)Pathogenic
Rothmund-Thomson syndrome|Baller-Gerold syndrome|Inborn genetic diseases|Rothmund-Thomson syndrome;Rapadilino syndrome;Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2|not provided|Hereditary cancer-predisposing syndrome|RECQL4-related disorder|Rapadilino syndrome;Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2
★★☆☆2026→ Residue 757
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp)Pathogenic
Baller-Gerold syndrome|RECQL4-related disorder|Rothmund-Thomson syndrome type 2
★★☆☆2026→ Residue 1021
NM_004260.4(RECQL4):c.2486_2501del (p.Arg829fs)Pathogenic
Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2
★★☆☆2025→ Residue 829
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs)Pathogenic
Baller-Gerold syndrome|not provided|Rapadilino syndrome|Rothmund-Thomson syndrome type 2
★★☆☆2025→ Residue 1026
NM_004260.4(RECQL4):c.2415_2419dup (p.Arg807fs)Pathogenic
Baller-Gerold syndrome|not provided
★★☆☆2025→ Residue 807
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)Pathogenic
Baller-Gerold syndrome|not provided|Rothmund-Thomson syndrome type 2|Baller-Gerold syndrome;Rapadilino syndrome;Rothmund-Thomson syndrome type 2
★★☆☆2025→ Residue 805
NM_004260.4(RECQL4):c.1089C>A (p.Tyr363Ter)Pathogenic
Baller-Gerold syndrome|RECQL4-related disorder
★★☆☆2025→ Residue 363
NM_004260.4(RECQL4):c.1391-1G>APathogenic
Rothmund-Thomson syndrome type 2|Baller-Gerold syndrome|not provided
★★☆☆2025
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)Pathogenic
Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 389
NM_004260.4(RECQL4):c.85-2A>GLikely pathogenic
not provided|Baller-Gerold syndrome
★★☆☆2025
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)Pathogenic
Rapadilino syndrome|not provided|Baller-Gerold syndrome|Hereditary cancer-predisposing syndrome|Rapadilino syndrome;Rothmund-Thomson syndrome type 2;Baller-Gerold syndrome
★★☆☆2025→ Residue 826
NM_004260.4(RECQL4):c.2552del (p.Pro851fs)Pathogenic
Baller-Gerold syndrome|not provided
★★☆☆2025→ Residue 851
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)Pathogenic
Rothmund-Thomson syndrome|Baller-Gerold syndrome
★★☆☆2025→ Residue 363
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter)Pathogenic
Baller-Gerold syndrome|Rothmund-Thomson syndrome type 2
★★☆☆2025→ Residue 567
NM_004260.4(RECQL4):c.3056-2A>CPathogenic
Baller-Gerold syndrome|Hereditary cancer-predisposing syndrome|not provided
★★☆☆2025