NM_015465.5(GEMIN5):c.2962A>T (p.Ile988Phe)Likely pathogenic
GEMIN5-related neurodevelopmental disorder|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction|Inborn genetic diseases|GEMIN5-related disorder
β
β
ββ2026β Residue 988
NM_015465.5(GEMIN5):c.4100T>C (p.Leu1367Pro)Likely pathogenic
GEMIN5-related disorder|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β
β
ββ2025β Residue 1367
NM_015465.5(GEMIN5):c.778C>T (p.Arg260Ter)Likely pathogenic
not provided|Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β
β
ββ2024β Residue 260
NM_015465.5(GEMIN5):c.1200_1201del (p.Asp401fs)Pathogenic
not provided
β
βββ2025β Residue 401
NM_015465.5(GEMIN5):c.2224A>T (p.Lys742Ter)Pathogenic
not provided
β
βββ2025β Residue 742
NM_015465.5(GEMIN5):c.414G>A (p.Trp138Ter)Likely pathogenic
not provided
β
βββ2025β Residue 138
NM_015465.5(GEMIN5):c.3085T>C (p.Trp1029Arg)Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β
βββ2025β Residue 1029
NM_015465.5(GEMIN5):c.2035C>T (p.Arg679Ter)Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β
βββ2025β Residue 679
NM_015465.5(GEMIN5):c.1995+1G>ALikely pathogenic
not provided
β
βββ2024
NM_015465.5(GEMIN5):c.1081-2A>GLikely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β
βββ2024
NM_015465.5(GEMIN5):c.4263-1G>CLikely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β
βββ2024
NM_015465.5(GEMIN5):c.1856del (p.Glu619fs)Likely pathogenic
not provided
β
βββ2024β Residue 619
NM_015465.5(GEMIN5):c.167-3_167-2delLikely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β
βββ2023
NM_015465.5(GEMIN5):c.1045A>T (p.Lys349Ter)Pathogenic
not provided
β
βββ2023β Residue 349
NM_015465.5(GEMIN5):c.3153_3160dup (p.Asp1054fs)Likely pathogenic
GEMIN5-related disorder
β
βββ2023β Residue 1054
NM_015465.5(GEMIN5):c.3931dup (p.Ser1311fs)Pathogenic
Inborn genetic diseases
β
βββ2023β Residue 1311
NM_015465.5(GEMIN5):c.3429del (p.Ser1144fs)Pathogenic
Inborn genetic diseases
β
βββ2022β Residue 1144
NM_015465.5(GEMIN5):c.119del (p.Arg40fs)Pathogenic
Inborn genetic diseases
β
βββ2022β Residue 40
NM_015465.5(GEMIN5):c.819AGG[1] (p.Gly276del)Likely pathogenic
not provided
β
βββ2022β Residue 276
NM_015465.5(GEMIN5):c.1267C>T (p.Gln423Ter)Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
β
βββ2022β Residue 423