NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided|Dyggve-Melchior-Clausen syndrome;Smith-McCort dysplasia 1|Inborn genetic diseases
β
β
ββ2025β Residue 132
NM_001353214.3(DYM):c.916C>T (p.Gln306Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|Early-onset non-syndromic cataract
β
β
ββ2025β Residue 306
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)Pathogenic
not provided|Dyggve-Melchior-Clausen syndrome
β
β
ββ2025β Residue 70
NM_001353214.3(DYM):c.2043del (p.Lys681fs)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided
β
β
ββ2025β Residue 681
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter)Pathogenic
not provided|Dyggve-Melchior-Clausen syndrome
β
β
ββ2025β Residue 428
NM_001353214.3(DYM):c.122del (p.Phe41fs)Pathogenic
not provided
β
β
ββ2024β Residue 41
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided
β
β
ββ2024β Residue 204
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided
β
β
ββ2023β Residue 588
NM_001353214.3(DYM):c.947-2A>GPathogenic
Dyggve-Melchior-Clausen syndrome|DYM-related disorder
β
β
ββ2023
NM_001353214.3(DYM):c.59T>A (p.Leu20Ter)Pathogenic
not provided|Dyggve-Melchior-Clausen syndrome
β
β
ββ2022β Residue 20
NM_001353214.3(DYM):c.1728+2T>CPathogenic
Dyggve-Melchior-Clausen syndrome
β
β
ββ2022
NM_001353214.3(DYM):c.107T>G (p.Leu36Arg)Likely pathogenic
Smith-McCort dysplasia 1
β
βββ2025β Residue 36
NM_001353214.3(DYM):c.780dup (p.Phe261fs)Pathogenic
not provided
β
βββ2025β Residue 261
NM_001353214.3(DYM):c.312_313dup (p.Asn105fs)Pathogenic
not provided
β
βββ2025β Residue 105
NM_001353214.3(DYM):c.1152T>A (p.Tyr384Ter)Pathogenic
not provided
β
βββ2025β Residue 384
NM_001353214.3(DYM):c.836del (p.Pro279fs)Pathogenic
Dyggve-Melchior-Clausen syndrome
β
βββ2025β Residue 279
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided
β
βββ2024β Residue 16
NM_001353214.3(DYM):c.368del (p.Glu123fs)Pathogenic
not provided
β
βββ2024β Residue 123
NM_001353214.3(DYM):c.1911+2T>CLikely pathogenic
not provided
β
βββ2024
NM_001353214.3(DYM):c.2025+1G>APathogenic
not provided|Dyggve-Melchior-Clausen syndrome
β
βββ2024