NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser)Likely pathogenic
not provided|Monogenic short statue|IMAGe syndrome
★★☆☆2025→ Residue 268
NM_001122630.2(CDKN1C):c.596_602dup (p.Ala202fs)Likely pathogenic
Beckwith-Wiedemann syndrome
★★☆☆2025→ Residue 202
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)Pathogenic
Beckwith-Wiedemann syndrome|not provided
★★☆☆2025→ Residue 271
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter)Pathogenic
Beckwith-Wiedemann syndrome|CDKN1C-related disorder
★★☆☆2025→ Residue 221
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter)Pathogenic
Beckwith-Wiedemann syndrome|not provided
★★☆☆2024→ Residue 214
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter)Pathogenic
Beckwith-Wiedemann syndrome
★★☆☆2024→ Residue 119
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs)Pathogenic
Beckwith-Wiedemann syndrome|IMAGe syndrome
★★☆☆2024→ Residue 137
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter)Pathogenic
Beckwith-Wiedemann syndrome
★★☆☆2024→ Residue 219
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu)Pathogenic
not provided|Beckwith-Wiedemann syndrome
★★☆☆2024→ Residue 59
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter)Pathogenic
Beckwith-Wiedemann syndrome
★★☆☆2024→ Residue 230
NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter)Pathogenic
Beckwith-Wiedemann syndrome|not provided
★★☆☆2024→ Residue 233
NM_001122630.2(CDKN1C):c.388del (p.Val130fs)Pathogenic
not provided|Beckwith-Wiedemann syndrome
★★☆☆2024→ Residue 130
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)Pathogenic
Beckwith-Wiedemann syndrome|Inborn genetic diseases|IMAGe syndrome
★★☆☆2022→ Residue 263
NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter)Pathogenic
Beckwith-Wiedemann syndrome
★★☆☆2021→ Residue 19
NM_001122630.2(CDKN1C):c.217_230del (p.Ser73fs)Pathogenic
Beckwith-Wiedemann syndrome
★☆☆☆2026→ Residue 73
NM_001122630.2(CDKN1C):c.748_749del (p.Gly250fs)Pathogenic
Beckwith-Wiedemann syndrome
★☆☆☆2025→ Residue 250
NM_001122630.2(CDKN1C):c.584_602dup (p.Ala202fs)Likely pathogenic
Beckwith-Wiedemann syndrome
★☆☆☆2025→ Residue 202
NM_001122630.2(CDKN1C):c.634_635del (p.Ser212fs)Pathogenic
Beckwith-Wiedemann syndrome
★☆☆☆2025→ Residue 212
NM_001122630.2(CDKN1C):c.643C>T (p.Gln215Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 215
NM_001122630.2(CDKN1C):c.660del (p.Gln221fs)Pathogenic
Beckwith-Wiedemann syndrome
★☆☆☆2024→ Residue 221