NM_017653.4:c.1125+1G>T | Morocco | NC_000018.10:g.49281996C>A | | Uncertain Significance | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.183738G>A; NM_017653.4:c.1125+1G>T; NP_060123.3:p.? | | |
NM_017653.4:c.1252-1G>A | Lebanon | NC_000018.10:g.49258494C>T | Pathogenic | Likely Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.207240G>A; NM_017653.4:c.1252-1G>A; NP_060123.3:p.? | 1568119124 | 3190 |
NM_017653.4:c.1447C>T | Morocco | NC_000018.10:g.49257023G>A | | Likely Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.208711C>T; NM_017653.4:c.1447C>T; NP_060123.3:p.Gln483Ter | | |
NM_017653.4:c.580C>T | Tunisia | NC_000018.10:g.49333768G>A | | Likely Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.131966C>T; NM_017653.4:c.580C>T; NP_060123.3:p.Arg194Ter | 752075665 | |
NM_017653.4:c.610C>T | Morocco | NC_000018.10:g.49333738G>A | | Likely Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.131996C>T; NM_017653.4:c.610C>T; NP_060123.3:p.Arg204Ter | 752868357 | |
NM_017653.4:c.656T>G | Morocco | NC_000018.10:g.49331971A>C | | Likely Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.133763T>G; NM_017653.4:c.656T>G; NP_060123.3:p.Leu219Ter | | |
NM_017653.5:c.194-1G>A | Lebanon | NC_000018.10:g.49379759C>T | | Likely Pathogenic | Dyggve-Melchior-Clausen Disease | NM_017653.5:c.194-1G>A | | |
NM_017653.6:c.1282C>T | Saudi Arabia | NC_000018.10:g.49258463G>A | Likely Pathogenic | Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.207271C>T; NM_017653.6:c.1282C>T; NP_060123.3:p.Arg428Ter | 771414481 | 191092 |
NM_017653.6:c.1365+3_1365+10del | Egypt | NC_000018.10:g.49258370_49258377del | | Uncertain Significance | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.207357_207364del; NM_017653.6:c.1365+3_1365+10del | | |
NM_017653.6:c.1860+1G>A | Saudi Arabia | NC_000018.10:g.49097401C>T | Likely Pathogenic | Pathogenic | Smith-Mccort Dysplasia 1 | NG_009239.2:g.368333G>A; NM_017653.6:c.1860+1G>A | 786205511 | 191091 |
NM_017653.6:c.1878del | Egypt; Morocco | NC_000018.10:g.49044189del | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.421547del; NM_017653.6:c.1878del; NP_060123.3:p.Lys626AsnfsTer94 | 1471488189 | 3191 |
NM_017653.6:c.272C>G | Egypt | NC_000018.10:g.49379680G>C | Likely Pathogenic | Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.1:g.86030C>G; NM_017653.6:c.272C>G; NP_060123.3:p.Ser91Ter | 786205513 | 191095 |
NM_017653.6:c.302G>A | Egypt | NC_000018.10:g.49378686C>T | | Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.87048G>A; NM_017653.6:c.302G>A; NP_060123.3:p.Trp101Ter | 1468696571 | |
NM_017653.6:c.610C>T | Egypt | NC_000018.10:g.49333738G>A | | Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.131996C>T; NM_017653.6:c.610C>T; NP_060123.3:p.Arg204Ter | 752868357 | |
NM_017653.6:c.946+1G>A | Egypt | NC_000018.10:g.49286433C>T | Likely Pathogenic | Pathogenic | Dyggve-Melchior-Clausen Disease | NG_009239.2:g.179301G>A; NM_017653.6:c.946+1G>A | 786205512 | 191093 |