NM_019023.5(PRMT7):c.1056-1G>TPathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|Neurodevelopmental abnormality|not provided|PRMT7-related disorder
β
β
ββ2026
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 274
NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)Pathogenic
15 conditions|not provided|Short stature-brachydactyly-obesity-global developmental delay syndrome
β
β
ββ2025β Residue 571
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided
β
β
ββ2025β Residue 323
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)Pathogenic
15 conditions|Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 108
NM_019023.5(PRMT7):c.477T>A (p.Tyr159Ter)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided
β
β
ββ2024β Residue 159
NM_019023.5(PRMT7):c.1168C>T (p.Arg390Ter)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
β
ββ2024β Residue 390
NM_019023.5(PRMT7):c.471del (p.Ser158fs)Pathogenic
Inborn genetic diseases|not provided
β
β
ββ2023β Residue 158
NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome|not provided
β
β
ββ2023β Residue 416
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
βββ2025β Residue 387
NM_019023.5(PRMT7):c.1727_1745dup (p.Phe583fs)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
βββ2025β Residue 583
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
βββ2025β Residue 32
NM_019023.5(PRMT7):c.2008del (p.Tyr670fs)Pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
βββ2025β Residue 670
NM_019023.5(PRMT7):c.132+1G>ALikely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
βββ2025
NM_019023.5(PRMT7):c.1283C>G (p.Thr428Arg)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
βββ2024β Residue 428
NM_019023.5(PRMT7):c.391+5G>CLikely pathogenic
not provided
β
βββ2024
NM_019023.5(PRMT7):c.194del (p.Lys65fs)Pathogenic
not provided
β
βββ2024β Residue 65
NM_019023.5(PRMT7):c.282+1G>ALikely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
βββ2024
NM_019023.5(PRMT7):c.937C>T (p.His313Tyr)Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome
β
βββ2024β Residue 313
NM_019023.5(PRMT7):c.847del (p.Asp283fs)Pathogenic
not provided
β
βββ2023β Residue 283