NM_000124.4(ERCC6):c.439dup (p.Leu147fs)Pathogenic
not provided|Cockayne syndrome type 2|ERCC6-related disorder
β
β
ββ2026β Residue 147
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)Pathogenic
Cockayne syndrome type 2|not provided|ERCC6-related disorder|DE SANCTIS-CACCHIONE SYNDROME|Cockayne syndrome|Inborn genetic diseases|7 conditions
β
β
ββ2026β Residue 723
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)Pathogenic
Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2|not provided|Cockayne syndrome
β
β
ββ2026β Residue 652
NM_000124.4(ERCC6):c.2792_2802del (p.Ile931fs)Pathogenic
not provided|7 conditions
β
β
ββ2026β Residue 931
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)Pathogenic
Cockayne syndrome type 2|Cerebrooculofacioskeletal syndrome 1;DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2|7 conditions|not provided|7 conditions
β
β
ββ2026β Residue 453
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)Pathogenic
Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2|not provided|Cockayne syndrome|7 conditions
β
β
ββ2026β Residue 1318
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1|not provided|Cockayne syndrome type 2|Inborn genetic diseases|Cockayne syndrome
β
β
ββ2025β Residue 176
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1|not provided|ERCC6-related disorder|Cockayne syndrome type 2|Inborn genetic diseases
β
β
ββ2025β Residue 857
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME|Cockayne syndrome type 2|ERCC6-related disorder|not provided|Cerebrooculofacioskeletal syndrome 1|7 conditions
β
β
ββ2025β Residue 735
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)Pathogenic
Cockayne syndrome type 2|not provided|DE SANCTIS-CACCHIONE SYNDROME|7 conditions|6 conditions
β
β
ββ2025β Residue 156
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)Pathogenic
not provided|Cockayne syndrome type 2
β
β
ββ2025β Residue 640
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1|Cockayne syndrome type 2|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 687
NM_000124.4(ERCC6):c.3500del (p.Ala1167fs)Pathogenic
not provided|Cockayne syndrome type 2
β
β
ββ2025β Residue 1167
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)Pathogenic
Cerebrooculofacioskeletal syndrome 1|ERCC6-related disorder|not provided|DE SANCTIS-CACCHIONE SYNDROME|7 conditions|Cockayne syndrome type 2
β
β
ββ2025β Residue 683
NM_000124.4(ERCC6):c.2599-26A>GPathogenic
Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2|not provided|Cockayne syndrome|7 conditions|ERCC6-related disorder
β
β
ββ2025
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)Pathogenic
not provided|Inborn genetic diseases|DE SANCTIS-CACCHIONE SYNDROME|Cerebrooculofacioskeletal syndrome 1|7 conditions
β
β
ββ2025β Residue 612
NM_000124.4(ERCC6):c.145del (p.Ser49fs)Pathogenic
not provided|Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
β
β
ββ2025β Residue 49
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)Pathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cockayne syndrome type 2;Cerebrooculofacioskeletal syndrome 1|not provided|See cases|ERCC6-related disorder|Cockayne syndrome|7 conditions
β
β
ββ2025β Residue 21
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)Likely pathogenic
not provided|Cockayne syndrome type 2|Cockayne syndrome
β
β
ββ2025β Residue 934
NM_000124.4(ERCC6):c.2286+1G>APathogenic
DE SANCTIS-CACCHIONE SYNDROME;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome type 2|not provided|7 conditions
β
β
ββ2025