NM_138927.4(SON):c.5753_5756del (p.Val1918fs)Pathogenic
ZTTK syndrome|Global developmental delay;Failure to thrive|Inborn genetic diseases|not provided|Neurodevelopmental abnormality|See cases|Hereditary spastic paraplegia 17
β
β
ββ2025β Residue 1918
NM_138927.4(SON):c.286C>T (p.Gln96Ter)Pathogenic
ZTTK syndrome|Global developmental delay;Failure to thrive|not provided
β
β
ββ2025β Residue 96
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs)Pathogenic
not provided|Inborn genetic diseases|ZTTK syndrome
β
β
ββ2025β Residue 1906
NM_138927.4(SON):c.4897_4900del (p.Thr1633fs)Pathogenic
ZTTK syndrome
β
β
ββ2024β Residue 1633
NM_138927.4(SON):c.3241C>T (p.Arg1081Ter)Pathogenic
not provided
β
β
ββ2024β Residue 1081
NM_138927.4(SON):c.2619_2620del (p.Gln874fs)Pathogenic
not provided|ZTTK syndrome
β
β
ββ2024β Residue 874
NM_138927.4(SON):c.4777_4778del (p.Leu1593fs)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2024β Residue 1593
NM_138927.4(SON):c.6321+1G>APathogenic
ZTTK syndrome|not provided
β
β
ββ2024
NM_138927.4(SON):c.3073dup (p.Met1025fs)Likely pathogenic
ZTTK syndrome|Global developmental delay;Failure to thrive
β
β
ββ2024β Residue 1025
NM_138927.4(SON):c.384del (p.Lys128fs)Pathogenic
ZTTK syndrome|not provided|Inborn genetic diseases
β
β
ββ2023β Residue 128
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)Pathogenic
Global developmental delay;Failure to thrive|ZTTK syndrome|not provided
β
β
ββ2022β Residue 1284
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)Pathogenic
not provided|Inborn genetic diseases|ZTTK syndrome
β
β
ββ2022β Residue 1112
NM_138927.4(SON):c.5662_5666del (p.Lys1888fs)Pathogenic
See cases|ZTTK syndrome
β
β
ββ2021β Residue 1888
NM_138927.4(SON):c.5473C>T (p.Arg1825Ter)Pathogenic
not provided
β
β
ββ2018β Residue 1825
NM_138927.4(SON):c.6022C>T (p.Arg2008Ter)Pathogenic
not provided|ZTTK syndrome
β
β
ββ2017β Residue 2008
NM_138927.4(SON):c.3597_3598dup (p.Pro1200fs)Pathogenic
ZTTK syndrome
β
βββ2025β Residue 1200
NM_138927.4(SON):c.1403_1578del (p.Glu468fs)Pathogenic
not provided
β
βββ2025β Residue 468
NM_138927.4(SON):c.4457_4459delinsATTAAATATGAAAGATAT (p.Gly1486_Ile1487delinsAspTer)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 1486
NM_138927.4(SON):c.2742T>A (p.Tyr914Ter)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 914
NM_138927.4(SON):c.5331_5334del (p.Arg1778fs)Pathogenic
ZTTK syndrome
β
βββ2025β Residue 1778