NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)Pathogenic
Cerebellar dysfunction with variable cognitive and behavioral abnormalities|not provided
★★☆☆2026→ Residue 806
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)Pathogenic
not provided|Cerebellar dysfunction with variable cognitive and behavioral abnormalities|Inborn genetic diseases
★★☆☆2025→ Residue 297
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)Pathogenic
Cerebellar dysfunction with variable cognitive and behavioral abnormalities|Inborn genetic diseases|not provided
★★☆☆2025→ Residue 1582
NM_015215.4(CAMTA1):c.4183-1G>ALikely pathogenic
not provided|Cerebellar dysfunction with variable cognitive and behavioral abnormalities
★★☆☆2025
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)Pathogenic
Cerebellar dysfunction with variable cognitive and behavioral abnormalities|not provided
★★☆☆2025→ Residue 1048
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)Pathogenic
not provided|Cerebellar dysfunction with variable cognitive and behavioral abnormalities
★★☆☆2025→ Residue 1594
NM_015215.4(CAMTA1):c.3962G>A (p.Trp1321Ter)Likely pathogenic
not provided|Cerebellar dysfunction with variable cognitive and behavioral abnormalities
★★☆☆2024→ Residue 1321
NM_015215.4(CAMTA1):c.2944C>T (p.Arg982Ter)Pathogenic
not provided
★★☆☆2024→ Residue 982
NM_015215.4(CAMTA1):c.403G>A (p.Glu135Lys)Pathogenic
not provided|Neurodevelopmental abnormality
★★☆☆2024→ Residue 135
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter)Pathogenic
not provided|Cerebellar dysfunction with variable cognitive and behavioral abnormalities
★★☆☆2023→ Residue 1411
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)Pathogenic
Cerebellar dysfunction with variable cognitive and behavioral abnormalities|not provided
★★☆☆2023→ Residue 1589
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)Pathogenic
Cerebellar dysfunction with variable cognitive and behavioral abnormalities|not provided
★★☆☆2022→ Residue 880
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)Pathogenic
not provided|Cerebellar dysfunction with variable cognitive and behavioral abnormalities
★★☆☆2018→ Residue 280
NM_015215.4(CAMTA1):c.4054C>T (p.Gln1352Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 1352
NM_015215.4(CAMTA1):c.4679_4689+23delLikely pathogenic
not provided
★☆☆☆2025
NM_015215.4(CAMTA1):c.940G>T (p.Glu314Ter)Pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 314
NM_015215.4(CAMTA1):c.2137del (p.Cys713fs)Pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 713
NM_015215.4(CAMTA1):c.271G>T (p.Glu91Ter)Pathogenic
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
★☆☆☆2025→ Residue 91
NM_015215.4(CAMTA1):c.1544C>A (p.Ser515Ter)Likely pathogenic
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
★☆☆☆2025→ Residue 515
NM_015215.4(CAMTA1):c.2623G>A (p.Asp875Asn)Likely pathogenic
not provided
★☆☆☆2025→ Residue 875