NM_015100.4(POGZ):c.3022C>T (p.Arg1008Ter)Pathogenic
not provided|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β
β
ββ2025β Residue 1008
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter)Pathogenic
not provided|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 508
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter)Pathogenic
not provided|See cases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 784
NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β
β
ββ2025β Residue 903
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β
β
ββ2025β Residue 379
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)Pathogenic
not provided|dysmorphy;intellectual deficiency|See cases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Neurodevelopmental disorder|POGZ-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 394
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β
β
ββ2025β Residue 1001
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)Pathogenic
Inborn genetic diseases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β
β
ββ2025β Residue 997
NM_015100.4(POGZ):c.2914C>T (p.Gln972Ter)Pathogenic
not provided|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β
β
ββ2025β Residue 972
NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter)Pathogenic
Intellectual disability|not provided
β
β
ββ2024β Residue 770
NM_015100.4(POGZ):c.1679-2A>GPathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Intellectual disability
β
β
ββ2024
NM_015100.4(POGZ):c.3312del (p.Phe1104fs)Pathogenic
not provided
β
β
ββ2024β Residue 1104
NM_015100.4(POGZ):c.2309dup (p.Tyr770Ter)Pathogenic
Inborn genetic diseases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β
β
ββ2024β Residue 770
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided|Neurodevelopmental disorder|Inborn genetic diseases|POGZ-related disorder
β
β
ββ2024β Residue 1154
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)Pathogenic
not provided|See cases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Inborn genetic diseases
β
β
ββ2024β Residue 1087
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)Pathogenic
not provided|Global developmental delay;Speech apraxia|Intellectual disability|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|Inborn genetic diseases
β
β
ββ2024β Residue 1014
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter)Pathogenic
not provided|Inborn genetic diseases|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β
β
ββ2024β Residue 698
NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys)Pathogenic
not provided|Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
β
β
ββ2024β Residue 1040
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β
β
ββ2024β Residue 1142
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter)Pathogenic
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|not provided
β
β
ββ2024β Residue 864