NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)Pathogenic
Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
β
β
ββ2026β Residue 7
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|Coats plus syndrome|Dyskeratosis congenita|not provided
β
β
ββ2026β Residue 985
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)Pathogenic
Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
β
β
ββ2026β Residue 396
NM_025099.6(CTC1):c.2T>A (p.Met1Lys)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita
β
β
ββ2026β Residue 1
NM_025099.6(CTC1):c.2386-1G>ALikely pathogenic
Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
β
β
ββ2026
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|not provided|Dyskeratosis congenita
β
β
ββ2026β Residue 665
NM_025099.6(CTC1):c.1360del (p.Glu454fs)Pathogenic
Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
β
β
ββ2026β Residue 454
NM_025099.6(CTC1):c.2831del (p.Pro944fs)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita|not provided|Coats plus syndrome|CTC1-related disorder
β
β
ββ2026β Residue 944
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)Likely pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita|not provided
β
β
ββ2025β Residue 840
NM_025099.6(CTC1):c.775G>A (p.Val259Met)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita|not provided
β
β
ββ2025β Residue 259
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita|not provided|Inborn genetic diseases|CTC1-related disorder
β
β
ββ2025β Residue 242
NM_025099.6(CTC1):c.1213del (p.Asp405fs)Pathogenic
Coats plus syndrome|Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
β
β
ββ2025β Residue 405
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|not provided|Dyskeratosis congenita
β
β
ββ2025β Residue 287
NM_025099.6(CTC1):c.248_251dup (p.His84fs)Pathogenic
Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1|not provided
β
β
ββ2025β Residue 84
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)Pathogenic
Dyskeratosis congenita|not provided|Cerebroretinal microangiopathy with calcifications and cysts 1|Coats plus syndrome|CTC1-related disorder
β
β
ββ2025β Residue 1007
NM_025099.6(CTC1):c.2758+1G>TPathogenic
Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
β
β
ββ2025
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)Pathogenic
Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1|CTC1-related disorder|not provided
β
β
ββ2025β Residue 999
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita|not provided|Colon adenocarcinoma
β
β
ββ2025β Residue 987
NM_025099.6(CTC1):c.2452C>T (p.Arg818Ter)Pathogenic
not provided|Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1
β
β
ββ2025β Residue 818
NM_025099.6(CTC1):c.2176del (p.His726fs)Pathogenic
Cerebroretinal microangiopathy with calcifications and cysts 1|Dyskeratosis congenita
β
β
ββ2025β Residue 726