NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)Pathogenic
Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 1|not provided|Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
β
ββ2025β Residue 1213
NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|not provided|Deafness|Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
β
ββ2025β Residue 1049
NM_005219.5(DIAPH1):c.145-1G>ALikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
β
ββ2025
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1|not provided
β
β
ββ2025β Residue 704
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1|not provided|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
β
ββ2025β Residue 351
NM_005219.5(DIAPH1):c.991C>T (p.Arg331Ter)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1|not provided
β
β
ββ2024β Residue 331
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)Pathogenic
Failure to thrive;Global developmental delay;Microcephaly;Epilepsy|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Autosomal dominant nonsyndromic hearing loss 1|not provided
β
β
ββ2024β Residue 778
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome|Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
β
ββ2024β Residue 847
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs)Pathogenic
not provided|Hearing impairment|Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
β
ββ2022β Residue 1090
NM_005219.5(DIAPH1):c.1396+1G>ALikely pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
βββ2026
NM_005219.5(DIAPH1):c.3149-2A>GLikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β
βββ2025
NM_005219.5(DIAPH1):c.1016del (p.Met339fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
βββ2025β Residue 339
NM_005219.5(DIAPH1):c.118-1G>TLikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β
βββ2025
NM_005219.5(DIAPH1):c.2350_2351dup (p.Trp784fs)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β
βββ2025β Residue 784
NM_005219.5(DIAPH1):c.3149-1G>ALikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β
βββ2025
NM_005219.5(DIAPH1):c.3516del (p.Glu1173fs)Pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β
βββ2025β Residue 1173
NM_005219.5(DIAPH1):c.2108del (p.Pro703fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
βββ2024β Residue 703
NM_005219.5(DIAPH1):c.1609del (p.Leu537fs)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
βββ2024β Residue 537
NM_005219.5(DIAPH1):c.811C>T (p.Gln271Ter)Pathogenic
Autosomal dominant nonsyndromic hearing loss 1;Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
β
βββ2024β Residue 271
NM_005219.5(DIAPH1):c.533+1G>TLikely pathogenic
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome;Autosomal dominant nonsyndromic hearing loss 1
β
βββ2024