NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Congenital cerebellar hypoplasia|Intellectual disability, CASK-related, X-linked|X-linked intellectual disability-cerebellar hypoplasia syndrome
β
β
ββ2026β Residue 27
NM_001367721.1(CASK):c.2647C>T (p.Gln883Ter)Pathogenic
Intellectual disability, CASK-related, X-linked|Syndromic X-linked intellectual disability Najm type
β
β
ββ2025β Residue 883
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided
β
β
ββ2025β Residue 106
NM_001367721.1(CASK):c.2100G>A (p.Trp700Ter)Pathogenic
not provided|Syndromic X-linked intellectual disability Najm type
β
β
ββ2025β Residue 700
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Intellectual disability
β
β
ββ2025β Residue 639
NM_001367721.1(CASK):c.2317+1G>APathogenic
Syndromic X-linked intellectual disability Najm type|Intellectual disability, CASK-related, X-linked|not provided|Inborn genetic diseases
β
β
ββ2025
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Intellectual disability, CASK-related, X-linked|FG syndrome 4|Inborn genetic diseases|CASK-related syndromic intellectual disability
β
β
ββ2025β Residue 28
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Intellectual disability, CASK-related, X-linked|FG syndrome 4
β
β
ββ2025β Residue 613
NM_001367721.1(CASK):c.285_288del (p.Asp95fs)Pathogenic
not provided|Syndromic X-linked intellectual disability Najm type
β
β
ββ2025β Residue 95
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided
β
β
ββ2024β Residue 681
NM_001367721.1(CASK):c.1015+1G>APathogenic
not provided|Syndromic X-linked intellectual disability Najm type
β
β
ββ2024
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)Pathogenic
not provided|FG syndrome 4|Abnormality of the nervous system|Intellectual disability, CASK-related, X-linked
β
β
ββ2024β Residue 489
NM_001367721.1(CASK):c.1315-1G>APathogenic
Intellectual disability, CASK-related, X-linked|Syndromic X-linked intellectual disability Najm type
β
β
ββ2024
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided
β
β
ββ2024β Residue 657
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)Pathogenic
Smith-Magenis Syndrome-like|Syndromic X-linked intellectual disability Najm type|CASK-related disorder|not provided|Intellectual disability, CASK-related, X-linked
β
β
ββ2024β Residue 489
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Syndromic X-linked intellectual disability Najm type;FG syndrome 4|Inborn genetic diseases
β
β
ββ2024β Residue 282
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)Likely pathogenic
FG syndrome 4|Syndromic X-linked intellectual disability Najm type|not provided
β
β
ββ2023β Residue 728
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided
β
β
ββ2022β Residue 622
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)Pathogenic
not provided|Syndromic X-linked intellectual disability Najm type
β
β
ββ2022β Residue 537
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs)Pathogenic
Intellectual disability, CASK-related, X-linked|not provided|Syndromic X-linked intellectual disability Najm type
β
β
ββ2022β Residue 548