NM_170675.5(MEIS2):c.655C>T (p.Arg219Ter)Pathogenic
not provided|Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
β
ββ2025β Residue 219
NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter)Pathogenic
Inborn genetic diseases|not provided|Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
β
ββ2025β Residue 174
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|not provided|MEIS2-related disorder|Inborn genetic diseases|Cleft palate
β
β
ββ2025β Residue 333
NM_170675.5(MEIS2):c.916G>A (p.Glu306Lys)Pathogenic
not provided|Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
β
ββ2024β Residue 306
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|Inborn genetic diseases|not provided
β
β
ββ2024β Residue 312
NM_170675.5(MEIS2):c.777_781del (p.Ala260fs)Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
β
ββ2024β Residue 260
NM_170675.5(MEIS2):c.505_512dup (p.Phe171fs)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
βββ2025β Residue 171
NM_170675.5(MEIS2):c.905C>T (p.Pro302Leu)Likely pathogenic
not provided|Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
βββ2025β Residue 302
NM_170675.5(MEIS2):c.825dup (p.Arg276fs)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
βββ2025β Residue 276
NM_170675.5(MEIS2):c.654G>A (p.Trp218Ter)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
βββ2025β Residue 218
NM_170675.5(MEIS2):c.998G>A (p.Arg333Lys)Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
βββ2024β Residue 333
NM_170675.5(MEIS2):c.1010_1012del (p.Pro337_Met338delinsLeu)Likely pathogenic
Cleft palate
β
βββ2024β Residue 337
NM_170675.5(MEIS2):c.170del (p.His57fs)Likely pathogenic
Syndromic intellectual disability
β
βββ2024β Residue 57
NM_170675.5(MEIS2):c.889C>T (p.Gln297Ter)Pathogenic
not provided
β
βββ2024β Residue 297
NM_170675.5(MEIS2):c.1030C>T (p.Arg344Ter)Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
βββ2024β Residue 344
NM_170675.5(MEIS2):c.908A>G (p.Tyr303Cys)Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
βββ2024β Residue 303
NM_170675.5(MEIS2):c.991A>G (p.Arg331Gly)Pathogenic
not provided
β
βββ2023β Residue 331
NM_170675.5(MEIS2):c.122_126delinsTGA (p.His41fs)Pathogenic
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
β
βββ2023β Residue 41
NM_170675.5(MEIS2):c.994A>G (p.Arg332Gly)Likely pathogenic
not provided
β
βββ2023β Residue 332
NM_170675.5(MEIS2):c.104dup (p.Val36fs)Pathogenic
not provided
β
βββ2022β Residue 36