NM_001353214.3(DYM):c.208C>T (p.Arg70Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV001591181]|not provided [RCV000519107] |
Chr18:49379744 [GRCh38] Chr18:46906114 [GRCh37] Chr18:18q21.1 |
pathogenic|likely pathogenic |
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000003334]|not provided [RCV005089150] |
Chr18:49430347 [GRCh38] Chr18:46956717 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.763del (p.Thr255fs) |
deletion |
Dyggve-Melchior-Clausen syndrome [RCV000003335] |
Chr18:49331864 [GRCh38] Chr18:46858234 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000003336]|Dyggve-Melchior-Clausen syndrome [RCV002482820]|Inborn genetic diseases [RCV002512699]|not provided [RCV001851607] |
Chr18:49378592 [GRCh38] Chr18:46904962 [GRCh37] Chr18:18q21.1 |
pathogenic|likely pathogenic |
NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000003337] |
Chr18:49257065 [GRCh38] Chr18:46783435 [GRCh37] Chr18:18q21.1 |
pathogenic |
DYM, IVS7AS, A-G, -2 |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000003339]|Smith McCort dysplasia [RCV000003338]|Smith-McCort dysplasia 1 [RCV000003338] |
Chr18:18q12-q21.1 |
pathogenic |
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys) |
single nucleotide variant |
DYM-related disorder [RCV004758589]|Smith-McCort dysplasia 1 [RCV000003340]|not provided [RCV002512700] |
Chr18:49379693 [GRCh38] Chr18:46906063 [GRCh37] Chr18:18q21.1 |
pathogenic|uncertain significance |
NM_001353214.3(DYM):c.1252-1G>A |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000003341]|not provided [RCV001851608] |
Chr18:49258494 [GRCh38] Chr18:46784864 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.2043del (p.Lys681fs) |
deletion |
Dyggve-Melchior-Clausen syndrome [RCV000003342]|not provided [RCV001851609] |
Chr18:49044187 [GRCh38] Chr18:46570557 [GRCh37] Chr18:18q21.1 |
pathogenic|likely pathogenic |
NM_001353214.3(DYM):c.422-2A>G |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000003343] |
Chr18:49363235 [GRCh38] Chr18:46889605 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.1789T>C (p.Cys597Arg) |
single nucleotide variant |
Smith-McCort dysplasia 1 [RCV000003344] |
Chr18:49118866 [GRCh38] Chr18:46645236 [GRCh37] Chr18:18q21.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000051048] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 |
copy number gain |
See cases [RCV000052543] |
Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 |
copy number gain |
See cases [RCV000052501] |
Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 |
copy number gain |
See cases [RCV000052549] |
Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 |
copy number gain |
See cases [RCV000052507] |
Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] |
Chr18:29249202..65448117 [GRCh38] Chr18:26829167..63115353 [GRCh37] Chr18:25083165..61266333 [NCBI36] Chr18:18q12.1-22.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 |
copy number gain |
See cases [RCV000052514] |
Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
NM_017653.3(DYM):c.1209C>T (p.Ile403=) |
single nucleotide variant |
Malignant melanoma [RCV000071835] |
Chr18:49272220 [GRCh38] Chr18:46798590 [GRCh37] Chr18:45052588 [NCBI36] Chr18:18q21.1 |
not provided |
NM_001353214.3(DYM):c.2025+1G>A |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV003987403]|not provided [RCV000171271] |
Chr18:49097401 [GRCh38] Chr18:46623771 [GRCh37] Chr18:18q21.1 |
pathogenic|likely pathogenic|no classifications from unflagged records |
NM_001353214.3(DYM):c.946+1G>A |
single nucleotide variant |
not provided [RCV000171273] |
Chr18:49286433 [GRCh38] Chr18:46812803 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.422G>A (p.Ser141Asn) |
single nucleotide variant |
not provided [RCV000171274] |
Chr18:49363233 [GRCh38] Chr18:46889603 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.272C>G (p.Ser91Ter) |
single nucleotide variant |
not provided [RCV000171275] |
Chr18:49379680 [GRCh38] Chr18:46906050 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter) |
single nucleotide variant |
not provided [RCV000171272] |
Chr18:49258463 [GRCh38] Chr18:46784833 [GRCh37] Chr18:18q21.1 |
pathogenic|likely pathogenic |
NM_001353214.3(DYM):c.122del (p.Phe41fs) |
deletion |
not provided [RCV000175880] |
Chr18:49430273 [GRCh38] Chr18:46956643 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.500T>A (p.Ile167Asn) |
single nucleotide variant |
DYM-related disorder [RCV004020160]|not provided [RCV000894265]|not specified [RCV000179952] |
Chr18:49333848 [GRCh38] Chr18:46860218 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.621-2A>G |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000003339]|Smith-McCort dysplasia 1 [RCV000003338]|not provided [RCV000180341] |
Chr18:49332008 [GRCh38] Chr18:46858378 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.1779C>G (p.Ile593Met) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149245] |
Chr18:49118876 [GRCh38] Chr18:46645246 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000404920]|Smith-McCort dysplasia [RCV000297024]|not provided [RCV000174382] |
Chr18:49258401 [GRCh38] Chr18:46784771 [GRCh37] Chr18:18q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001353214.3(DYM):c.1827A>G (p.Val609=) |
single nucleotide variant |
not provided [RCV000174933] |
Chr18:49118828 [GRCh38] Chr18:46645198 [GRCh37] Chr18:18q21.1 |
likely pathogenic|uncertain significance |
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 |
copy number gain |
See cases [RCV000134110] |
Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 |
copy number gain |
See cases [RCV000136910] |
Chr18:38794728..65632804 [GRCh38] Chr18:36374692..63300040 [GRCh37] Chr18:34628690..61451020 [NCBI36] Chr18:18q12.2-22.1 |
pathogenic |
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 |
copy number gain |
See cases [RCV000136890] |
Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23 |
pathogenic |
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 |
copy number gain |
See cases [RCV000137342] |
Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 |
copy number gain |
See cases [RCV000138034] |
Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 |
copy number gain |
See cases [RCV000138656] |
Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 |
copy number gain |
See cases [RCV000139397] |
Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 |
copy number gain |
See cases [RCV000142244] |
Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 |
copy number gain |
See cases [RCV000142227] |
Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 |
copy number gain |
See cases [RCV000143057] |
Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3 |
pathogenic |
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 |
copy number loss |
See cases [RCV000142696] |
Chr18:41722823..49043887 [GRCh38] Chr18:39302787..46570257 [GRCh37] Chr18:37556785..44824255 [NCBI36] Chr18:18q12.3-21.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 |
copy number gain |
See cases [RCV000143218] |
Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000148072] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 |
copy number gain |
See cases [RCV000240130] |
Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000293421]|Smith-McCort dysplasia [RCV000336606]|not provided [RCV000888403]|not specified [RCV000304877] |
Chr18:49163696 [GRCh38] Chr18:46690066 [GRCh37] Chr18:18q21.1 |
benign|likely benign|uncertain significance |
NM_001353214.3(DYM):c.288-10G>A |
single nucleotide variant |
DYM-related disorder [RCV004021308]|Dyggve-Melchior-Clausen syndrome [RCV000271206]|Smith-McCort dysplasia 1 [RCV000312331]|not provided [RCV000372965] |
Chr18:49378710 [GRCh38] Chr18:46905080 [GRCh37] Chr18:18q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) |
single nucleotide variant |
DYM-related disorder [RCV004021154]|Dyggve-Melchior-Clausen syndrome [RCV000378341]|Smith-McCort dysplasia [RCV000321281]|not provided [RCV000353342] |
Chr18:49097484 [GRCh38] Chr18:46623854 [GRCh37] Chr18:18q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353214.3(DYM):c.1669C>T (p.Gln557Ter) |
single nucleotide variant |
not provided [RCV000255789] |
Chr18:49163744 [GRCh38] Chr18:46690114 [GRCh37] Chr18:18q21.1 |
pathogenic |
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 |
copy number gain |
See cases [RCV000240476] |
Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23 |
pathogenic |
NM_001353214.3(DYM):c.1977G>A (p.Leu659=) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000268552]|Smith-McCort dysplasia [RCV000360438]|not provided [RCV001399741] |
Chr18:49097450 [GRCh38] Chr18:46623820 [GRCh37] Chr18:18q21.1 |
likely benign|uncertain significance |
NM_001353214.3(DYM):c.342G>A (p.Leu114=) |
single nucleotide variant |
Connective tissue disorder [RCV002278501]|Dyggve-Melchior-Clausen syndrome [RCV000393797]|Smith-McCort dysplasia [RCV000305151]|not provided [RCV001511130] |
Chr18:49378646 [GRCh38] Chr18:46905016 [GRCh37] Chr18:18q21.1 |
benign|likely benign |
NM_001353214.3(DYM):c.1116G>A (p.Met372Ile) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000305353]|Smith-McCort dysplasia [RCV000357801] |
Chr18:49282006 [GRCh38] Chr18:46808376 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.*22G>A |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000345011]|Smith-McCort dysplasia [RCV000287578]|not provided [RCV004703741] |
Chr18:49044033 [GRCh38] Chr18:46570403 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1914G>C (p.Val638=) |
single nucleotide variant |
Connective tissue disorder [RCV002278499]|Dyggve-Melchior-Clausen syndrome [RCV000289660]|Smith-McCort dysplasia [RCV000381595]|not provided [RCV001512745] |
Chr18:49097513 [GRCh38] Chr18:46623883 [GRCh37] Chr18:18q21.1 |
benign|likely benign |
NM_001353214.3(DYM):c.1995C>T (p.Gly665=) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000259918]|Smith-McCort dysplasia [RCV000317373]|not provided [RCV001859922] |
Chr18:49097432 [GRCh38] Chr18:46623802 [GRCh37] Chr18:18q21.1 |
likely benign|uncertain significance |
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) |
single nucleotide variant |
Connective tissue disorder [RCV002278500]|Dyggve-Melchior-Clausen syndrome [RCV000280905]|Smith-McCort dysplasia [RCV000340550]|not provided [RCV000514424] |
Chr18:49378567 [GRCh38] Chr18:46904937 [GRCh37] Chr18:18q21.1 |
benign|likely benign |
NM_001353214.3(DYM):c.-154G>T |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000379415]|Smith-McCort dysplasia [RCV000343061] |
Chr18:49460498 [GRCh38] Chr18:46986868 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.-215G>A |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000406741]|Smith-McCort dysplasia [RCV000309714] |
Chr18:49460559 [GRCh38] Chr18:46986929 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.980C>A (p.Ala327Asp) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000362850]|Inborn genetic diseases [RCV002521165]|Smith-McCort dysplasia [RCV000272862]|not provided [RCV001859923] |
Chr18:49282142 [GRCh38] Chr18:46808512 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.620+4T>G |
single nucleotide variant |
Connective tissue disorder [RCV002278306]|DYM-related disorder [RCV004021225]|Dyggve-Melchior-Clausen syndrome [RCV001125697]|Smith-McCort dysplasia 1 [RCV001125698]|not provided [RCV000377528] |
Chr18:49333724 [GRCh38] Chr18:46860094 [GRCh37] Chr18:18q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353214.3(DYM):c.-243C>T |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000296949]|Smith-McCort dysplasia [RCV000260387] |
Chr18:49460587 [GRCh38] Chr18:46986957 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.193+9G>A |
single nucleotide variant |
Connective tissue disorder [RCV002278503]|Dyggve-Melchior-Clausen syndrome [RCV000367031]|Smith-McCort dysplasia 1 [RCV000276533]|not provided [RCV000957756] |
Chr18:49391584 [GRCh38] Chr18:46917954 [GRCh37] Chr18:18q21.1 |
benign|likely benign |
NM_001353214.3(DYM):c.*12T>C |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000405691]|Smith-McCort dysplasia [RCV000315286] |
Chr18:49044043 [GRCh38] Chr18:46570413 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000367665]|Smith-McCort dysplasia [RCV000405928]|not provided [RCV002521164] |
Chr18:49044066 [GRCh38] Chr18:46570436 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.-251G>T |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000356471]|Smith-McCort dysplasia [RCV000261717] |
Chr18:49460595 [GRCh38] Chr18:46986965 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.-294C>T |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000321604]|Smith-McCort dysplasia [RCV000376302] |
Chr18:49460638 [GRCh38] Chr18:46987008 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.-222G>A |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000406341]|Smith-McCort dysplasia [RCV000350522] |
Chr18:49460566 [GRCh38] Chr18:46986936 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000290928]|Inborn genetic diseases [RCV003243082]|Smith-McCort dysplasia [RCV000329327]|not provided [RCV001753786] |
Chr18:49097503 [GRCh38] Chr18:46623873 [GRCh37] Chr18:18q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353214.3(DYM):c.144T>C (p.Ser48=) |
single nucleotide variant |
not provided [RCV000357775] |
Chr18:49391642 [GRCh38] Chr18:46918012 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.920C>T (p.Ala307Val) |
single nucleotide variant |
DYM-related disorder [RCV004021732]|Dyggve-Melchior-Clausen syndrome [RCV000333578]|Smith-McCort dysplasia [RCV000292810] |
Chr18:49286460 [GRCh38] Chr18:46812830 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.573A>T (p.Glu191Asp) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000375153]|Smith-McCort dysplasia [RCV000334825]|not provided [RCV000940130] |
Chr18:49333775 [GRCh38] Chr18:46860145 [GRCh37] Chr18:18q21.1 |
likely benign|uncertain significance |
NM_001353214.3(DYM):c.321G>A (p.Leu107=) |
single nucleotide variant |
Connective tissue disorder [RCV002278502]|Dyggve-Melchior-Clausen syndrome [RCV000341380]|Smith-McCort dysplasia [RCV000402458]|not provided [RCV000907132] |
Chr18:49378667 [GRCh38] Chr18:46905037 [GRCh37] Chr18:18q21.1 |
benign|likely benign|uncertain significance |
NM_001353214.3(DYM):c.946+7G>A |
single nucleotide variant |
DYM-related disorder [RCV004021075]|not provided [RCV000293735] |
Chr18:49286427 [GRCh38] Chr18:46812797 [GRCh37] Chr18:18q21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353214.3(DYM):c.1115T>C (p.Met372Thr) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000267104]|Smith-McCort dysplasia [RCV000326840] |
Chr18:49282007 [GRCh38] Chr18:46808377 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.21A>T (p.Arg7Ser) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000263518]|Inborn genetic diseases [RCV004021734]|Smith-McCort dysplasia [RCV000318563] |
Chr18:49430374 [GRCh38] Chr18:46956744 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2053G>A (p.Val685Met) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000299929]|Smith-McCort dysplasia [RCV000357111] |
Chr18:49044177 [GRCh38] Chr18:46570547 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.831T>C (p.Ser277=) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000388061]|Smith-McCort dysplasia [RCV000279749] |
Chr18:49286549 [GRCh38] Chr18:46812919 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.42T>G (p.Asn14Lys) |
single nucleotide variant |
DYM-related disorder [RCV004021733]|Dyggve-Melchior-Clausen syndrome [RCV000317600]|Smith-McCort dysplasia [RCV000372208] |
Chr18:49430353 [GRCh38] Chr18:46956723 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000391081]|Smith-McCort dysplasia [RCV000351589]|not provided [RCV000729040] |
Chr18:49118787 [GRCh38] Chr18:46645157 [GRCh37] Chr18:18q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_017653.4(DYM):c.-309G>C |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000323440]|Smith-McCort dysplasia [RCV000268340]|not provided [RCV004709841] |
Chr18:49460653 [GRCh38] Chr18:46987023 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1251+12T>C |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000354205]|Smith-McCort dysplasia 1 [RCV000402920]|not provided [RCV003765893] |
Chr18:49272166 [GRCh38] Chr18:46798536 [GRCh37] Chr18:18q21.1 |
likely benign|uncertain significance |
NM_001353214.3(DYM):c.2172C>T (p.Asp724=) |
single nucleotide variant |
not provided [RCV000886145]|not specified [RCV000597311] |
Chr18:49044058 [GRCh38] Chr18:46570428 [GRCh37] Chr18:18q21.1 |
benign|likely benign|uncertain significance |
NM_001353214.3(DYM):c.513A>G (p.Ile171Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003268476] |
Chr18:49333835 [GRCh38] Chr18:46860205 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.-238G>T |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000315479]|Smith-McCort dysplasia [RCV000369169] |
Chr18:49460582 [GRCh38] Chr18:46986952 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.*123G>A |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000391857]|Smith-McCort dysplasia [RCV000345938] |
Chr18:49043932 [GRCh38] Chr18:46570302 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.-94G>C |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000377915]|Smith-McCort dysplasia [RCV000283427] |
Chr18:49460438 [GRCh38] Chr18:46986808 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.297C>T (p.Phe99=) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000365773]|Smith-McCort dysplasia [RCV000306305] |
Chr18:49378691 [GRCh38] Chr18:46905061 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.-169G>A |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000289688]|Smith-McCort dysplasia [RCV000344687] |
Chr18:49460513 [GRCh38] Chr18:46986883 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.961C>T (p.Pro321Ser) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV000387047]|Smith-McCort dysplasia [RCV000327995] |
Chr18:49282161 [GRCh38] Chr18:46808531 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.-54G>C |
single nucleotide variant |
not provided [RCV000597587] |
Chr18:49460398 [GRCh38] Chr18:46986768 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.534A>G (p.Thr178=) |
single nucleotide variant |
not provided [RCV000731281] |
Chr18:49333814 [GRCh38] Chr18:46860184 [GRCh37] Chr18:18q21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 |
copy number gain |
See cases [RCV000446047] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 |
copy number gain |
See cases [RCV000445851] |
Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q21.1(chr18:46814533-46887714)x1 |
copy number loss |
See cases [RCV000448154] |
Chr18:46814533..46887714 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 |
copy number gain |
See cases [RCV000512081] |
Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23 |
pathogenic |
NM_001353214.3(DYM):c.-54+34G>C |
single nucleotide variant |
not provided [RCV001520173]|not specified [RCV000455505] |
Chr18:49460364 [GRCh38] Chr18:46986734 [GRCh37] Chr18:18q21.1 |
benign |
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 |
copy number gain |
See cases [RCV000511394] |
Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 |
copy number gain |
See cases [RCV000511734] |
Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1 |
pathogenic |
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 |
copy number gain |
See cases [RCV000512030] |
Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 |
copy number loss |
See cases [RCV000511759] |
Chr18:46177798..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 |
copy number gain |
See cases [RCV000511124] |
Chr18:24835114..46917217 [GRCh37] Chr18:18q11.2-21.1 |
likely benign |
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 |
copy number gain |
See cases [RCV000511203] |
Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) |
copy number gain |
See cases [RCV000511189] |
Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001353214.3(DYM):c.680A>C (p.Lys227Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003280194] |
Chr18:49331947 [GRCh38] Chr18:46858317 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 |
copy number gain |
See cases [RCV000512425] |
Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23 |
pathogenic |
GRCh37/hg19 18q21.1(chr18:46674881-46750191)x1 |
copy number loss |
not provided [RCV000683974] |
Chr18:46674881..46750191 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 |
copy number gain |
not provided [RCV000684057] |
Chr18:35866313..55082983 [GRCh37] Chr18:18q12.2-21.31 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 |
copy number loss |
not provided [RCV000684060] |
Chr18:46942427..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q21.1(chr18:46379232-46778031)x3 |
copy number gain |
not provided [RCV000683995] |
Chr18:46379232..46778031 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q21.1(chr18:46583722-46803612)x1 |
copy number loss |
not provided [RCV000683981] |
Chr18:46583722..46803612 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 |
copy number gain |
not provided [RCV000739776] |
Chr18:18539806..49926444 [GRCh37] Chr18:18q11.1-21.2 |
pathogenic |
NM_001353214.3(DYM):c.-53-211C>T |
single nucleotide variant |
not provided [RCV001611864] |
Chr18:49430658 [GRCh38] Chr18:46957028 [GRCh37] Chr18:18q21.1 |
benign |
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 |
copy number gain |
not provided [RCV000752245] |
Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 |
copy number gain |
not provided [RCV000752246] |
Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001353214.3(DYM):c.492C>T (p.Leu164=) |
single nucleotide variant |
not provided [RCV000927958] |
Chr18:49363163 [GRCh38] Chr18:46889533 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1230C>T (p.Phe410=) |
single nucleotide variant |
not provided [RCV000920694] |
Chr18:49272199 [GRCh38] Chr18:46798569 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.975A>C (p.Pro325=) |
single nucleotide variant |
not provided [RCV000923959] |
Chr18:49282147 [GRCh38] Chr18:46808517 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.504A>C (p.Thr168=) |
single nucleotide variant |
not provided [RCV000925921] |
Chr18:49333844 [GRCh38] Chr18:46860214 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.654A>G (p.Leu218=) |
single nucleotide variant |
not provided [RCV000900232] |
Chr18:49331973 [GRCh38] Chr18:46858343 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_017653.6(DYM):c.1746+9A>G |
single nucleotide variant |
not provided [RCV000982513] |
Chr18:49118735 [GRCh38] Chr18:46645105 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_017653.6(DYM):c.1461-8T>G |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV001125613]|Smith-McCort dysplasia 1 [RCV001125614]|not provided [RCV000900446] |
Chr18:49163795 [GRCh38] Chr18:46690165 [GRCh37] Chr18:18q21.1 |
likely benign|uncertain significance |
NM_017653.6(DYM):c.140+8A>T |
single nucleotide variant |
DYM-related disorder [RCV004029934]|not provided [RCV000968752] |
Chr18:49430247 [GRCh38] Chr18:46956617 [GRCh37] Chr18:18q21.1 |
benign|likely benign |
NM_017653.5:c.1878del |
variation |
Dyggve-Melchior-Clausen syndrome [RCV000824989] |
|
pathogenic |
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 |
copy number gain |
not provided [RCV000847118] |
Chr18:45621155..61416536 [GRCh37] Chr18:18q21.1-21.33 |
pathogenic |
NM_001353214.3(DYM):c.2103_2107del (p.Val702fs) |
deletion |
not provided [RCV001090351] |
Chr18:49044123..49044127 [GRCh38] Chr18:46570493..46570497 [GRCh37] Chr18:18q21.1 |
pathogenic |
GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3 |
copy number gain |
not provided [RCV000847739] |
Chr18:44619805..46854791 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q21.1(chr18:46952641-46980738)x3 |
copy number gain |
not provided [RCV000848648] |
Chr18:46952641..46980738 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1214C>T (p.Thr405Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003290788] |
Chr18:49272215 [GRCh38] Chr18:46798585 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1366-174A>T |
single nucleotide variant |
not provided [RCV001598358] |
Chr18:49257278 [GRCh38] Chr18:46783648 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1626-304T>G |
single nucleotide variant |
not provided [RCV001713533] |
Chr18:49164091 [GRCh38] Chr18:46690461 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1728+178C>T |
single nucleotide variant |
not provided [RCV001597772] |
Chr18:49163507 [GRCh38] Chr18:46689877 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1626-303C>T |
single nucleotide variant |
not provided [RCV001652181] |
Chr18:49164090 [GRCh38] Chr18:46690460 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.934A>G (p.Lys312Glu) |
single nucleotide variant |
not provided [RCV001563322] |
Chr18:49286446 [GRCh38] Chr18:46812816 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.495-287T>G |
single nucleotide variant |
not provided [RCV001539572] |
Chr18:49334140 [GRCh38] Chr18:46860510 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.316G>A (p.Ala106Thr) |
single nucleotide variant |
not provided [RCV001568599] |
Chr18:49378672 [GRCh38] Chr18:46905042 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1729-78G>C |
single nucleotide variant |
not provided [RCV001618947] |
Chr18:49119004 [GRCh38] Chr18:46645374 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.-53-309C>T |
single nucleotide variant |
not provided [RCV001684940] |
Chr18:49430756 [GRCh38] Chr18:46957126 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.422-30dup |
duplication |
not provided [RCV001654888] |
Chr18:49363254..49363255 [GRCh38] Chr18:46889624..46889625 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.2026-30G>A |
single nucleotide variant |
not provided [RCV001608797] |
Chr18:49044234 [GRCh38] Chr18:46570604 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.140+104G>A |
single nucleotide variant |
not provided [RCV001715517] |
Chr18:49430151 [GRCh38] Chr18:46956521 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1251+131T>A |
single nucleotide variant |
not provided [RCV001678222] |
Chr18:49272047 [GRCh38] Chr18:46798417 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1626-101del |
deletion |
not provided [RCV001618143] |
Chr18:49163888 [GRCh38] Chr18:46690258 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.763+144_763+148del |
deletion |
not provided [RCV001638254] |
Chr18:49331716..49331720 [GRCh38] Chr18:46858086..46858090 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.2026-130T>C |
single nucleotide variant |
not provided [RCV001599145] |
Chr18:49044334 [GRCh38] Chr18:46570704 [GRCh37] Chr18:18q21.1 |
benign |
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 |
copy number gain |
not provided [RCV001006980] |
Chr18:20689919..49455212 [GRCh37] Chr18:18q11.2-21.2 |
pathogenic |
NM_001353214.3(DYM):c.1251+155dup |
duplication |
not provided [RCV001645640] |
Chr18:49272006..49272007 [GRCh38] Chr18:46798376..46798377 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1252-328G>C |
single nucleotide variant |
not provided [RCV001679707] |
Chr18:49258821 [GRCh38] Chr18:46785191 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1126-224A>G |
single nucleotide variant |
not provided [RCV001614931] |
Chr18:49272527 [GRCh38] Chr18:46798897 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.-53-308G>A |
single nucleotide variant |
not provided [RCV001680459] |
Chr18:49430755 [GRCh38] Chr18:46957125 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.2026-88G>A |
single nucleotide variant |
not provided [RCV001667979] |
Chr18:49044292 [GRCh38] Chr18:46570662 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1126-72A>T |
single nucleotide variant |
not provided [RCV001670271] |
Chr18:49272375 [GRCh38] Chr18:46798745 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1365+117C>T |
single nucleotide variant |
not provided [RCV001671442] |
Chr18:49258263 [GRCh38] Chr18:46784633 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1365+154G>A |
single nucleotide variant |
not provided [RCV001650451] |
Chr18:49258226 [GRCh38] Chr18:46784596 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.422-290G>A |
single nucleotide variant |
not provided [RCV001647915] |
Chr18:49363523 [GRCh38] Chr18:46889893 [GRCh37] Chr18:18q21.1 |
benign |
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 |
copy number gain |
not provided [RCV001537911] |
Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23 |
pathogenic |
NM_001353214.3(DYM):c.621-167A>C |
single nucleotide variant |
not provided [RCV001713803] |
Chr18:49332173 [GRCh38] Chr18:46858543 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.141-151del |
deletion |
not provided [RCV001684052] |
Chr18:49391796 [GRCh38] Chr18:46918166 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1252-328GT[17] |
microsatellite |
not provided [RCV001540920] |
Chr18:49258782..49258787 [GRCh38] Chr18:46785152..46785157 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.95dup (p.Trp33fs) |
duplication |
Dyggve-Melchior-Clausen syndrome [RCV001004617] |
Chr18:49430299..49430300 [GRCh38] Chr18:46956669..46956670 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.416A>G (p.Asn139Ser) |
single nucleotide variant |
not provided [RCV001065945] |
Chr18:49378572 [GRCh38] Chr18:46904942 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.947-2A>G |
single nucleotide variant |
DYM-related disorder [RCV004035398]|Dyggve-Melchior-Clausen syndrome [RCV001262584] |
Chr18:49282177 [GRCh38] Chr18:46808547 [GRCh37] Chr18:18q21.1 |
pathogenic|likely pathogenic |
NM_001353214.3(DYM):c.1728+2T>C |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV001352909] |
Chr18:49163683 [GRCh38] Chr18:46690053 [GRCh37] Chr18:18q21.1 |
pathogenic|likely pathogenic |
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV001280803]|not provided [RCV001871621] |
Chr18:49118893 [GRCh38] Chr18:46645263 [GRCh37] Chr18:18q21.1 |
pathogenic|likely pathogenic |
NM_001353214.3(DYM):c.1653_1654del (p.His551fs) |
microsatellite |
Dyggve-Melchior-Clausen syndrome [RCV001352908] |
Chr18:49163759..49163760 [GRCh38] Chr18:46690129..46690130 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.705_708dup (p.Pro237fs) |
duplication |
Dyggve-Melchior-Clausen syndrome [RCV001352910] |
Chr18:49331918..49331919 [GRCh38] Chr18:46858288..46858289 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.719C>A (p.Ser240Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV001328005] |
Chr18:49331908 [GRCh38] Chr18:46858278 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.1126-2A>G |
single nucleotide variant |
not provided [RCV001310387] |
Chr18:49272305 [GRCh38] Chr18:46798675 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.1094_1097del (p.Tyr365fs) |
microsatellite |
not provided [RCV001536891] |
Chr18:49282025..49282028 [GRCh38] Chr18:46808395..46808398 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.1650dup (p.His551fs) |
duplication |
Dyggve-Melchior-Clausen syndrome [RCV001352905] |
Chr18:49163762..49163763 [GRCh38] Chr18:46690132..46690133 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.963del (p.Ser322fs) |
deletion |
Dyggve-Melchior-Clausen syndrome [RCV001352911] |
Chr18:49282159 [GRCh38] Chr18:46808529 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.550T>C (p.Ser184Pro) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV001352906] |
Chr18:49333798 [GRCh38] Chr18:46860168 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV001352907] |
Chr18:49282073 [GRCh38] Chr18:46808443 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1222del (p.Asp408fs) |
deletion |
Dyggve-Melchior-Clausen syndrome [RCV001358802] |
Chr18:49272207 [GRCh38] Chr18:46798577 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.973C>T (p.Pro325Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002539489]|not provided [RCV001301969] |
Chr18:49282149 [GRCh38] Chr18:46808519 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.935A>G (p.Lys312Arg) |
single nucleotide variant |
not provided [RCV001344120] |
Chr18:49286445 [GRCh38] Chr18:46812815 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1460G>A (p.Ser487Asn) |
single nucleotide variant |
not provided [RCV001344293] |
Chr18:49257010 [GRCh38] Chr18:46783380 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1729-5A>G |
single nucleotide variant |
not provided [RCV001297671] |
Chr18:49118931 [GRCh38] Chr18:46645301 [GRCh37] Chr18:18q21.1 |
likely benign|uncertain significance |
NM_001353214.3(DYM):c.899C>T (p.Ala300Val) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV001336382]|Inborn genetic diseases [RCV004619643] |
Chr18:49286481 [GRCh38] Chr18:46812851 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1252-449_1252-6del |
deletion |
not provided [RCV001464762] |
Chr18:49258499..49258942 [GRCh38] Chr18:46784869..46785312 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.207T>C (p.Pro69=) |
single nucleotide variant |
DYM-related disorder [RCV004037301]|not provided [RCV001489686] |
Chr18:49379745 [GRCh38] Chr18:46906115 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.561C>G (p.Leu187=) |
single nucleotide variant |
not provided [RCV001501216] |
Chr18:49333787 [GRCh38] Chr18:46860157 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.838C>T (p.Leu280=) |
single nucleotide variant |
not provided [RCV001506467] |
Chr18:49286542 [GRCh38] Chr18:46812912 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.673C>T (p.Gln225Ter) |
single nucleotide variant |
not provided [RCV001381491] |
Chr18:49331954 [GRCh38] Chr18:46858324 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.810G>A (p.Ala270=) |
single nucleotide variant |
not provided [RCV001405701] |
Chr18:49286570 [GRCh38] Chr18:46812940 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.54_55insC (p.Lys19fs) |
insertion |
Dyggve-Melchior-Clausen syndrome [RCV001391227] |
Chr18:49430340..49430341 [GRCh38] Chr18:46956710..46956711 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.1251+172dup |
duplication |
not provided [RCV001686457] |
Chr18:49272004..49272005 [GRCh38] Chr18:46798374..46798375 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.947-170G>A |
single nucleotide variant |
not provided [RCV001669085] |
Chr18:49282345 [GRCh38] Chr18:46808715 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.421+168C>G |
single nucleotide variant |
not provided [RCV001679889] |
Chr18:49378399 [GRCh38] Chr18:46904769 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.494+17C>T |
single nucleotide variant |
not provided [RCV001538369] |
Chr18:49363144 [GRCh38] Chr18:46889514 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.763+278A>G |
single nucleotide variant |
not provided [RCV001691768] |
Chr18:49331586 [GRCh38] Chr18:46857956 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.2026-298G>C |
single nucleotide variant |
not provided [RCV001687771] |
Chr18:49044502 [GRCh38] Chr18:46570872 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.276A>G (p.Ala92=) |
single nucleotide variant |
not provided [RCV001518610] |
Chr18:49379676 [GRCh38] Chr18:46906046 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.368del (p.Glu123fs) |
deletion |
not provided [RCV001390866] |
Chr18:49378620 [GRCh38] Chr18:46904990 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.915A>G (p.Arg305=) |
single nucleotide variant |
not provided [RCV001455602] |
Chr18:49286465 [GRCh38] Chr18:46812835 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.346G>T (p.Val116Leu) |
single nucleotide variant |
not provided [RCV001730331] |
Chr18:49378642 [GRCh38] Chr18:46905012 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.445dup (p.Glu149fs) |
duplication |
Dyggve-Melchior-Clausen syndrome [RCV002227914] |
Chr18:49363209..49363210 [GRCh38] Chr18:46889579..46889580 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.59T>A (p.Leu20Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV002250771]|not provided [RCV001783166] |
Chr18:49430336 [GRCh38] Chr18:46956706 [GRCh37] Chr18:18q21.1 |
pathogenic |
Single allele |
deletion |
Intellectual disability [RCV001787257] |
Chr18:1262336..53254747 [GRCh37] Chr18:18p11.32-q21.2 |
pathogenic |
NM_001353214.3(DYM):c.1849G>A (p.Asp617Asn) |
single nucleotide variant |
not provided [RCV001769422] |
Chr18:49118806 [GRCh38] Chr18:46645176 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q21.1(chr18:46379233-46642420)x3 |
copy number gain |
not provided [RCV001832994] |
Chr18:46379233..46642420 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1729-1G>A |
single nucleotide variant |
not provided [RCV001814442] |
Chr18:49118927 [GRCh38] Chr18:46645297 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.845A>G (p.Asn282Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004616939]|not provided [RCV001988426] |
Chr18:49286535 [GRCh38] Chr18:46812905 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1981A>G (p.Ile661Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003264151]|not provided [RCV001929878] |
Chr18:49097446 [GRCh38] Chr18:46623816 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.5G>A (p.Gly2Glu) |
single nucleotide variant |
not provided [RCV001945190] |
Chr18:49430390 [GRCh38] Chr18:46956760 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.943C>G (p.Gln315Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002561343]|not provided [RCV001929192] |
Chr18:49286437 [GRCh38] Chr18:46812807 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1244A>T (p.His415Leu) |
single nucleotide variant |
not provided [RCV002044751] |
Chr18:49272185 [GRCh38] Chr18:46798555 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1433A>G (p.His478Arg) |
single nucleotide variant |
not provided [RCV001874763] |
Chr18:49257037 [GRCh38] Chr18:46783407 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1884T>G (p.Phe628Leu) |
single nucleotide variant |
not provided [RCV001915520] |
Chr18:49118771 [GRCh38] Chr18:46645141 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q21.1(chr18:46379232-46778034) |
copy number gain |
not specified [RCV002052633] |
Chr18:46379232..46778034 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q21.1(chr18:46852441-46859524) |
copy number loss |
not specified [RCV002052635] |
Chr18:46852441..46859524 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.551C>T (p.Ser184Phe) |
single nucleotide variant |
not provided [RCV002003330] |
Chr18:49333797 [GRCh38] Chr18:46860167 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.229C>G (p.Leu77Val) |
single nucleotide variant |
not provided [RCV001986089] |
Chr18:49379723 [GRCh38] Chr18:46906093 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) |
copy number gain |
not specified [RCV002052616] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001353214.3(DYM):c.233T>G (p.Ile78Ser) |
single nucleotide variant |
not provided [RCV001889818] |
Chr18:49379719 [GRCh38] Chr18:46906089 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.535A>G (p.Met179Val) |
single nucleotide variant |
not provided [RCV001909322] |
Chr18:49333813 [GRCh38] Chr18:46860183 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1970G>A (p.Arg657Gln) |
single nucleotide variant |
not provided [RCV001926900] |
Chr18:49097457 [GRCh38] Chr18:46623827 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.281G>A (p.Cys94Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002560512]|not provided [RCV001927022] |
Chr18:49379671 [GRCh38] Chr18:46906041 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q21.1(chr18:46814533-46887714) |
copy number loss |
not specified [RCV002052634] |
Chr18:46814533..46887714 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2003C>T (p.Ala668Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004616969]|not provided [RCV002038464] |
Chr18:49097424 [GRCh38] Chr18:46623794 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.500T>C (p.Ile167Thr) |
single nucleotide variant |
not provided [RCV001932300] |
Chr18:49333848 [GRCh38] Chr18:46860218 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.778G>A (p.Val260Ile) |
single nucleotide variant |
not provided [RCV001886730] |
Chr18:49286602 [GRCh38] Chr18:46812972 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1157T>C (p.Val386Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002551177]|not provided [RCV002038539] |
Chr18:49272272 [GRCh38] Chr18:46798642 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.781T>C (p.Phe261Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004616892]|not provided [RCV001944236] |
Chr18:49286599 [GRCh38] Chr18:46812969 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.665T>G (p.Phe222Cys) |
single nucleotide variant |
not provided [RCV002033736] |
Chr18:49331962 [GRCh38] Chr18:46858332 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1424G>A (p.Arg475His) |
single nucleotide variant |
Inborn genetic diseases [RCV002557647]|not provided [RCV001942941] |
Chr18:49257046 [GRCh38] Chr18:46783416 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.163G>A (p.Glu55Lys) |
single nucleotide variant |
not provided [RCV002049173] |
Chr18:49391623 [GRCh38] Chr18:46917993 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.809C>T (p.Ala270Val) |
single nucleotide variant |
not provided [RCV001955517] |
Chr18:49286571 [GRCh38] Chr18:46812941 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.271T>C (p.Ser91Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004040521]|not provided [RCV001878958] |
Chr18:49379681 [GRCh38] Chr18:46906051 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.957T>C (p.Pro319=) |
single nucleotide variant |
not provided [RCV001903369] |
Chr18:49282165 [GRCh38] Chr18:46808535 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1033T>A (p.Ser345Thr) |
single nucleotide variant |
not provided [RCV001957911] |
Chr18:49282089 [GRCh38] Chr18:46808459 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.799G>T (p.Gly267Cys) |
single nucleotide variant |
not provided [RCV001939146] |
Chr18:49286581 [GRCh38] Chr18:46812951 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NC_000018.9:g.(?_46570425)_(48604837_?)dup |
duplication |
not provided [RCV001923066] |
Chr18:46570425..48604837 [GRCh37] Chr18:18q21.1-21.2 |
uncertain significance |
NM_001353214.3(DYM):c.1654A>G (p.Asn552Asp) |
single nucleotide variant |
not provided [RCV002017137] |
Chr18:49163759 [GRCh38] Chr18:46690129 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.658T>C (p.Tyr220His) |
single nucleotide variant |
Inborn genetic diseases [RCV003348620]|not provided [RCV001925828] |
Chr18:49331969 [GRCh38] Chr18:46858339 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.552C>A (p.Ser184=) |
single nucleotide variant |
not provided [RCV001956503] |
Chr18:49333796 [GRCh38] Chr18:46860166 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1090A>G (p.Thr364Ala) |
single nucleotide variant |
not provided [RCV001978687] |
Chr18:49282032 [GRCh38] Chr18:46808402 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1301C>T (p.Ser434Phe) |
single nucleotide variant |
not provided [RCV002011550] |
Chr18:49258444 [GRCh38] Chr18:46784814 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1196T>C (p.Ile399Thr) |
single nucleotide variant |
DYM-related disorder [RCV004039016]|Inborn genetic diseases [RCV002545814]|not provided [RCV001876438] |
Chr18:49272233 [GRCh38] Chr18:46798603 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.539T>G (p.Val180Gly) |
single nucleotide variant |
not provided [RCV001957804] |
Chr18:49333809 [GRCh38] Chr18:46860179 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.752C>T (p.Ser251Leu) |
single nucleotide variant |
not provided [RCV001937599] |
Chr18:49331875 [GRCh38] Chr18:46858245 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.280T>G (p.Cys94Gly) |
single nucleotide variant |
not provided [RCV001955985] |
Chr18:49379672 [GRCh38] Chr18:46906042 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.213A>G (p.Thr71=) |
single nucleotide variant |
not provided [RCV002106492] |
Chr18:49379739 [GRCh38] Chr18:46906109 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.621-14dup |
duplication |
not provided [RCV002127515] |
Chr18:49332019..49332020 [GRCh38] Chr18:46858389..46858390 [GRCh37] Chr18:18q21.1 |
benign |
NM_001353214.3(DYM):c.1740A>G (p.Leu580=) |
single nucleotide variant |
not provided [RCV002126191] |
Chr18:49118915 [GRCh38] Chr18:46645285 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.645G>A (p.Val215=) |
single nucleotide variant |
not provided [RCV002187368] |
Chr18:49331982 [GRCh38] Chr18:46858352 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.2129A>C (p.Tyr710Ser) |
single nucleotide variant |
not provided [RCV002126708] |
Chr18:49044101 [GRCh38] Chr18:46570471 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.93G>A (p.Pro31=) |
single nucleotide variant |
not provided [RCV002192173] |
Chr18:49430302 [GRCh38] Chr18:46956672 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1366-8C>G |
single nucleotide variant |
not provided [RCV002135259] |
Chr18:49257112 [GRCh38] Chr18:46783482 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1460+15T>C |
single nucleotide variant |
not provided [RCV002094545] |
Chr18:49256995 [GRCh38] Chr18:46783365 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1912-15C>T |
single nucleotide variant |
not provided [RCV002153467] |
Chr18:49097530 [GRCh38] Chr18:46623900 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1809C>T (p.His603=) |
single nucleotide variant |
not provided [RCV002173586] |
Chr18:49118846 [GRCh38] Chr18:46645216 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.780C>T (p.Val260=) |
single nucleotide variant |
not provided [RCV002089591] |
Chr18:49286600 [GRCh38] Chr18:46812970 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.140+12C>T |
single nucleotide variant |
not provided [RCV002129912] |
Chr18:49430243 [GRCh38] Chr18:46956613 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1659A>G (p.Lys553=) |
single nucleotide variant |
not provided [RCV002215676] |
Chr18:49163754 [GRCh38] Chr18:46690124 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.620+12C>T |
single nucleotide variant |
not provided [RCV002180946] |
Chr18:49333716 [GRCh38] Chr18:46860086 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1383A>C (p.Thr461=) |
single nucleotide variant |
not provided [RCV002100049] |
Chr18:49257087 [GRCh38] Chr18:46783457 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.421+8T>C |
single nucleotide variant |
not provided [RCV002160340] |
Chr18:49378559 [GRCh38] Chr18:46904929 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.963C>T (p.Pro321=) |
single nucleotide variant |
not provided [RCV002217308] |
Chr18:49282159 [GRCh38] Chr18:46808529 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.159G>A (p.Leu53=) |
single nucleotide variant |
not provided [RCV002123116] |
Chr18:49391627 [GRCh38] Chr18:46917997 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1792C>T (p.Leu598=) |
single nucleotide variant |
not provided [RCV002100083] |
Chr18:49118863 [GRCh38] Chr18:46645233 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.348G>C (p.Val116=) |
single nucleotide variant |
DYM-related disorder [RCV004046519]|not provided [RCV002123402] |
Chr18:49378640 [GRCh38] Chr18:46905010 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1125+19A>T |
single nucleotide variant |
not provided [RCV002099052] |
Chr18:49281978 [GRCh38] Chr18:46808348 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.123C>T (p.Phe41=) |
single nucleotide variant |
not provided [RCV002176739] |
Chr18:49430272 [GRCh38] Chr18:46956642 [GRCh37] Chr18:18q21.1 |
likely benign |
NC_000018.9:g.(?_46450976)_(46690177_?)dup |
duplication |
not provided [RCV003119780] |
Chr18:46450976..46690177 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) |
copy number gain |
Trisomy 18 [RCV002280660] |
Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001353214.3(DYM):c.1177_1178del (p.His393fs) |
deletion |
Dyggve-Melchior-Clausen syndrome [RCV002281596] |
Chr18:49272251..49272252 [GRCh38] Chr18:46798621..46798622 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.2170G>A (p.Asp724Asn) |
single nucleotide variant |
Connective tissue disorder [RCV002278715]|Inborn genetic diseases [RCV003101591] |
Chr18:49044060 [GRCh38] Chr18:46570430 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.543T>G (p.Val181=) |
single nucleotide variant |
Connective tissue disorder [RCV002278716] |
Chr18:49333805 [GRCh38] Chr18:46860175 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.457T>C (p.Cys153Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003262430] |
Chr18:49363198 [GRCh38] Chr18:46889568 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1381A>G (p.Thr461Ala) |
single nucleotide variant |
not provided [RCV002681718] |
Chr18:49257089 [GRCh38] Chr18:46783459 [GRCh37] Chr18:18q21.1 |
uncertain significance |
GRCh37/hg19 18q21.1(chr18:46379233-46777416)x3 |
copy number gain |
not provided [RCV002473538] |
Chr18:46379233..46777416 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.764-3174_764-3107del |
deletion |
Schizophrenia [RCV002463527] |
Chr18:49289723..49289790 [GRCh38] Chr18:46816093..46816160 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1694C>T (p.Ser565Leu) |
single nucleotide variant |
not provided [RCV003102290]|not specified [RCV002308635] |
Chr18:49163719 [GRCh38] Chr18:46690089 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2111A>G (p.Asn704Ser) |
single nucleotide variant |
not provided [RCV002681285] |
Chr18:49044119 [GRCh38] Chr18:46570489 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.526A>G (p.Ile176Val) |
single nucleotide variant |
not provided [RCV002615861] |
Chr18:49333822 [GRCh38] Chr18:46860192 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.764C>T (p.Thr255Ile) |
single nucleotide variant |
not provided [RCV002617510] |
Chr18:49286616 [GRCh38] Chr18:46812986 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.495-18G>A |
single nucleotide variant |
not provided [RCV002862877] |
Chr18:49333871 [GRCh38] Chr18:46860241 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.603T>C (p.Tyr201=) |
single nucleotide variant |
not provided [RCV002972609] |
Chr18:49333745 [GRCh38] Chr18:46860115 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.613G>A (p.Gly205Ser) |
single nucleotide variant |
not provided [RCV002775616] |
Chr18:49333735 [GRCh38] Chr18:46860105 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.60A>C (p.Leu20Phe) |
single nucleotide variant |
not provided [RCV003033670] |
Chr18:49430335 [GRCh38] Chr18:46956705 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.554G>A (p.Cys185Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002688103] |
Chr18:49333794 [GRCh38] Chr18:46860164 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1061C>T (p.Thr354Ile) |
single nucleotide variant |
not provided [RCV002735312] |
Chr18:49282061 [GRCh38] Chr18:46808431 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1412C>T (p.Ser471Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002639485]|not provided [RCV002658564] |
Chr18:49257058 [GRCh38] Chr18:46783428 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.413G>T (p.Gly138Val) |
single nucleotide variant |
not provided [RCV002572028] |
Chr18:49378575 [GRCh38] Chr18:46904945 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.469C>G (p.Gln157Glu) |
single nucleotide variant |
not provided [RCV003021208] |
Chr18:49363186 [GRCh38] Chr18:46889556 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1922T>C (p.Phe641Ser) |
single nucleotide variant |
not provided [RCV002590654] |
Chr18:49097505 [GRCh38] Chr18:46623875 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.780C>G (p.Val260=) |
single nucleotide variant |
not provided [RCV002796847] |
Chr18:49286600 [GRCh38] Chr18:46812970 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.2026-5T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002797837]|not provided [RCV003777759] |
Chr18:49044209 [GRCh38] Chr18:46570579 [GRCh37] Chr18:18q21.1 |
likely benign|uncertain significance |
NM_001353214.3(DYM):c.2008C>T (p.Pro670Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002783659] |
Chr18:49097419 [GRCh38] Chr18:46623789 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.947-16G>A |
single nucleotide variant |
not provided [RCV002795490] |
Chr18:49282191 [GRCh38] Chr18:46808561 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.494+7T>C |
single nucleotide variant |
not provided [RCV002885962] |
Chr18:49363154 [GRCh38] Chr18:46889524 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1146T>A (p.Ile382=) |
single nucleotide variant |
not provided [RCV002909779] |
Chr18:49272283 [GRCh38] Chr18:46798653 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1678C>T (p.Gln560Ter) |
single nucleotide variant |
not provided [RCV002795177] |
Chr18:49163735 [GRCh38] Chr18:46690105 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.2088C>A (p.Pro696=) |
single nucleotide variant |
not provided [RCV003018211] |
Chr18:49044142 [GRCh38] Chr18:46570512 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.657A>G (p.Leu219=) |
single nucleotide variant |
not provided [RCV002780182] |
Chr18:49331970 [GRCh38] Chr18:46858340 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.760G>T (p.Ala254Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003367917]|not provided [RCV002948365] |
Chr18:49331867 [GRCh38] Chr18:46858237 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1729G>T (p.Ala577Ser) |
single nucleotide variant |
not provided [RCV002658536] |
Chr18:49118926 [GRCh38] Chr18:46645296 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.106C>G (p.Leu36Val) |
single nucleotide variant |
not provided [RCV002933198] |
Chr18:49430289 [GRCh38] Chr18:46956659 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2115A>G (p.Ser705=) |
single nucleotide variant |
not provided [RCV003043594] |
Chr18:49044115 [GRCh38] Chr18:46570485 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002873794] |
Chr18:49332001 [GRCh38] Chr18:46858371 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1085_1087del (p.Ile362del) |
deletion |
not provided [RCV003022789] |
Chr18:49282035..49282037 [GRCh38] Chr18:46808405..46808407 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1727A>T (p.Tyr576Phe) |
single nucleotide variant |
not provided [RCV003023493] |
Chr18:49163686 [GRCh38] Chr18:46690056 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1910T>G (p.Leu637Arg) |
single nucleotide variant |
not provided [RCV002642986] |
Chr18:49118745 [GRCh38] Chr18:46645115 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2169C>T (p.Ser723=) |
single nucleotide variant |
not provided [RCV002580126] |
Chr18:49044061 [GRCh38] Chr18:46570431 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.2017A>G (p.Arg673Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002610169]|not provided [RCV002602601] |
Chr18:49097410 [GRCh38] Chr18:46623780 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.217A>T (p.Asn73Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002808503] |
Chr18:49379735 [GRCh38] Chr18:46906105 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1300T>C (p.Ser434Pro) |
single nucleotide variant |
not provided [RCV002580412] |
Chr18:49258445 [GRCh38] Chr18:46784815 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1126-15A>G |
single nucleotide variant |
not provided [RCV002580586] |
Chr18:49272318 [GRCh38] Chr18:46798688 [GRCh37] Chr18:18q21.1 |
likely benign|uncertain significance |
NM_001353214.3(DYM):c.946+8G>T |
single nucleotide variant |
not provided [RCV003031377] |
Chr18:49286426 [GRCh38] Chr18:46812796 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1205T>A (p.Leu402Ter) |
single nucleotide variant |
not provided [RCV002877416] |
Chr18:49272224 [GRCh38] Chr18:46798594 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.1106G>A (p.Arg369His) |
single nucleotide variant |
DYM-related disorder [RCV004066915]|not provided [RCV002714818] |
Chr18:49282016 [GRCh38] Chr18:46808386 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.196G>A (p.Glu66Lys) |
single nucleotide variant |
not provided [RCV002649469] |
Chr18:49379756 [GRCh38] Chr18:46906126 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2091T>C (p.Tyr697=) |
single nucleotide variant |
not provided [RCV002895591] |
Chr18:49044139 [GRCh38] Chr18:46570509 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1952C>T (p.Ala651Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002675298] |
Chr18:49097475 [GRCh38] Chr18:46623845 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.374A>G (p.Glu125Gly) |
single nucleotide variant |
not provided [RCV002580229] |
Chr18:49378614 [GRCh38] Chr18:46904984 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.712C>G (p.Gln238Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002718577] |
Chr18:49331915 [GRCh38] Chr18:46858285 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2108A>G (p.Tyr703Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004065202]|not provided [RCV002988765] |
Chr18:49044122 [GRCh38] Chr18:46570492 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2122G>A (p.Gly708Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002897208] |
Chr18:49044108 [GRCh38] Chr18:46570478 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.719C>T (p.Ser240Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002897955] |
Chr18:49331908 [GRCh38] Chr18:46858278 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.209G>A (p.Arg70Gln) |
single nucleotide variant |
not provided [RCV002634393] |
Chr18:49379743 [GRCh38] Chr18:46906113 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1415C>T (p.Ala472Val) |
single nucleotide variant |
not provided [RCV002943321] |
Chr18:49257055 [GRCh38] Chr18:46783425 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1877C>G (p.Pro626Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004617060]|not provided [RCV002634899] |
Chr18:49118778 [GRCh38] Chr18:46645148 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.422-20C>A |
single nucleotide variant |
not provided [RCV002654370] |
Chr18:49363253 [GRCh38] Chr18:46889623 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.702T>C (p.His234=) |
single nucleotide variant |
not provided [RCV002587226] |
Chr18:49331925 [GRCh38] Chr18:46858295 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.907C>T (p.Pro303Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004978560]|not provided [RCV003072465] |
Chr18:49286473 [GRCh38] Chr18:46812843 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.847C>A (p.Gln283Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004973482]|not provided [RCV002589865] |
Chr18:49286533 [GRCh38] Chr18:46812903 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1870A>G (p.Thr624Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003299560] |
Chr18:49118785 [GRCh38] Chr18:46645155 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV003326703]|not provided [RCV003561251] |
Chr18:49333738 [GRCh38] Chr18:46860108 [GRCh37] Chr18:18q21.1 |
pathogenic |
NM_001353214.3(DYM):c.1517C>T (p.Pro506Leu) |
single nucleotide variant |
not provided [RCV003421640] |
Chr18:49209659 [GRCh38] Chr18:46736029 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.99G>A (p.Trp33Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV003340804] |
Chr18:49430296 [GRCh38] Chr18:46956666 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.253A>T (p.Thr85Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003359242] |
Chr18:49379699 [GRCh38] Chr18:46906069 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1986T>C (p.Ile662=) |
single nucleotide variant |
not provided [RCV003543313] |
Chr18:49097441 [GRCh38] Chr18:46623811 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.750A>C (p.Ala250=) |
single nucleotide variant |
not provided [RCV003571661] |
Chr18:49331877 [GRCh38] Chr18:46858247 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.570A>G (p.Lys190=) |
single nucleotide variant |
not provided [RCV003831677] |
Chr18:49333778 [GRCh38] Chr18:46860148 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.916C>T (p.Gln306Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV003494001] |
Chr18:49286464 [GRCh38] Chr18:46812834 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.421+9T>G |
single nucleotide variant |
not provided [RCV003831574] |
Chr18:49378558 [GRCh38] Chr18:46904928 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1125+8T>C |
single nucleotide variant |
not provided [RCV003577724] |
Chr18:49281989 [GRCh38] Chr18:46808359 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1125+1G>A |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV003493995] |
Chr18:49281996 [GRCh38] Chr18:46808366 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.1626-14_1626-4del |
deletion |
Dyggve-Melchior-Clausen syndrome [RCV003493996] |
Chr18:49163791..49163801 [GRCh38] Chr18:46690161..46690171 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1460+8T>C |
single nucleotide variant |
not provided [RCV003829463] |
Chr18:49257002 [GRCh38] Chr18:46783372 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.140+10T>C |
single nucleotide variant |
not provided [RCV003876957] |
Chr18:49430245 [GRCh38] Chr18:46956615 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.442T>C (p.Leu148=) |
single nucleotide variant |
not provided [RCV003826071] |
Chr18:49363213 [GRCh38] Chr18:46889583 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1831G>A (p.Ala611Thr) |
single nucleotide variant |
not provided [RCV003825116] |
Chr18:49118824 [GRCh38] Chr18:46645194 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.699C>T (p.Ala233=) |
single nucleotide variant |
not provided [RCV003834744] |
Chr18:49331928 [GRCh38] Chr18:46858298 [GRCh37] Chr18:18q21.1 |
likely benign |
Single allele |
deletion |
Deletion of long arm of chromosome 18 [RCV004801487] |
Chr18:23614482..49306881 [GRCh38] Chr18:18q11.2-21.1 |
pathogenic |
NM_001353214.3(DYM):c.1998C>T (p.Val666=) |
single nucleotide variant |
not provided [RCV003717364] |
Chr18:49097429 [GRCh38] Chr18:46623799 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1626-1G>T |
single nucleotide variant |
not provided [RCV003558090] |
Chr18:49163788 [GRCh38] Chr18:46690158 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.1692T>G (p.Gly564=) |
single nucleotide variant |
not provided [RCV003816915] |
Chr18:49163721 [GRCh38] Chr18:46690091 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.617C>T (p.Pro206Leu) |
single nucleotide variant |
not provided [RCV003854384] |
Chr18:49333731 [GRCh38] Chr18:46860101 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1323G>A (p.Leu441=) |
single nucleotide variant |
not provided [RCV003671096] |
Chr18:49258422 [GRCh38] Chr18:46784792 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1366-16C>T |
single nucleotide variant |
not provided [RCV003840024] |
Chr18:49257120 [GRCh38] Chr18:46783490 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1365+18T>C |
single nucleotide variant |
not provided [RCV003838681] |
Chr18:49258362 [GRCh38] Chr18:46784732 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.252A>G (p.Arg84=) |
single nucleotide variant |
not provided [RCV003672074] |
Chr18:49379700 [GRCh38] Chr18:46906070 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1182G>C (p.Val394=) |
single nucleotide variant |
not provided [RCV003862788] |
Chr18:49272247 [GRCh38] Chr18:46798617 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.379C>A (p.Gln127Lys) |
single nucleotide variant |
not provided [RCV003705430] |
Chr18:49378609 [GRCh38] Chr18:46904979 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1969C>T (p.Arg657Trp) |
single nucleotide variant |
not provided [RCV003847748] |
Chr18:49097458 [GRCh38] Chr18:46623828 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.422-18T>C |
single nucleotide variant |
not provided [RCV003677016] |
Chr18:49363251 [GRCh38] Chr18:46889621 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1911+2T>C |
single nucleotide variant |
not provided [RCV003732193] |
Chr18:49118742 [GRCh38] Chr18:46645112 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.1912-10T>C |
single nucleotide variant |
not provided [RCV003676857] |
Chr18:49097525 [GRCh38] Chr18:46623895 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.84G>A (p.Glu28=) |
single nucleotide variant |
not provided [RCV003731869] |
Chr18:49430311 [GRCh38] Chr18:46956681 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.495-6T>C |
single nucleotide variant |
not provided [RCV003541883] |
Chr18:49333859 [GRCh38] Chr18:46860229 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.24C>T (p.Ile8=) |
single nucleotide variant |
not provided [RCV003733399] |
Chr18:49430371 [GRCh38] Chr18:46956741 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1092A>T (p.Thr364=) |
single nucleotide variant |
not provided [RCV003867531] |
Chr18:49282030 [GRCh38] Chr18:46808400 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1413G>A (p.Ser471=) |
single nucleotide variant |
DYM-related disorder [RCV004369624]|not provided [RCV003871300] |
Chr18:49257057 [GRCh38] Chr18:46783427 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.900G>A (p.Ala300=) |
single nucleotide variant |
not provided [RCV003731897] |
Chr18:49286480 [GRCh38] Chr18:46812850 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1776G>A (p.Glu592=) |
single nucleotide variant |
not provided [RCV003553104] |
Chr18:49118879 [GRCh38] Chr18:46645249 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.858G>C (p.Leu286=) |
single nucleotide variant |
not provided [RCV003732698] |
Chr18:49286522 [GRCh38] Chr18:46812892 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1371G>A (p.Lys457=) |
single nucleotide variant |
not provided [RCV003542066] |
Chr18:49257099 [GRCh38] Chr18:46783469 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.693A>C (p.Pro231=) |
single nucleotide variant |
not provided [RCV003684792] |
Chr18:49331934 [GRCh38] Chr18:46858304 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.855C>T (p.Leu285=) |
single nucleotide variant |
not provided [RCV003677083] |
Chr18:49286525 [GRCh38] Chr18:46812895 [GRCh37] Chr18:18q21.1 |
likely benign |
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1 |
copy number loss |
not specified [RCV003987274] |
Chr18:33793283..46823898 [GRCh37] Chr18:18q12.2-21.1 |
pathogenic |
NM_001353214.3(DYM):c.157T>C (p.Leu53=) |
single nucleotide variant |
not provided [RCV003844372] |
Chr18:49391629 [GRCh38] Chr18:46917999 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.193+19T>A |
single nucleotide variant |
not provided [RCV003711392] |
Chr18:49391574 [GRCh38] Chr18:46917944 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.27C>T (p.Gly9=) |
single nucleotide variant |
not provided [RCV003727375] |
Chr18:49430368 [GRCh38] Chr18:46956738 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1867C>T (p.Arg623Ter) |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV003990026] |
Chr18:49118788 [GRCh38] Chr18:46645158 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2021T>C (p.Leu674Pro) |
single nucleotide variant |
DYM-related disorder [RCV004369773] |
Chr18:49097406 [GRCh38] Chr18:46623776 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2020C>T (p.Leu674=) |
single nucleotide variant |
DYM-related disorder [RCV004369877] |
Chr18:49097407 [GRCh38] Chr18:46623777 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1728+7_1728+8insTACT |
insertion |
DYM-related disorder [RCV004369831] |
Chr18:49163677..49163678 [GRCh38] Chr18:46690047..46690048 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.751T>C (p.Ser251Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004379819] |
Chr18:49331876 [GRCh38] Chr18:46858246 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1285G>A (p.Val429Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004379815] |
Chr18:49258460 [GRCh38] Chr18:46784830 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.214G>A (p.Gly72Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004379817] |
Chr18:49379738 [GRCh38] Chr18:46906108 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1626-2A>G |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV004577077] |
Chr18:49163789 [GRCh38] Chr18:46690159 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
NM_001353214.3(DYM):c.2090A>G (p.Tyr697Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004379816] |
Chr18:49044140 [GRCh38] Chr18:46570510 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.923T>C (p.Ile308Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004379820] |
Chr18:49286457 [GRCh38] Chr18:46812827 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1126G>C (p.Val376Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004617253] |
Chr18:49272303 [GRCh38] Chr18:46798673 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1891A>G (p.Ile631Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004617255] |
Chr18:49118764 [GRCh38] Chr18:46645134 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.421+1G>T |
single nucleotide variant |
Dyggve-Melchior-Clausen syndrome [RCV004764352] |
|
likely pathogenic|uncertain significance |
NM_001353214.3(DYM):c.1609_1619del (p.Arg537fs) |
deletion |
DYM-related disorder [RCV004758968] |
Chr18:49209557..49209567 [GRCh38] Chr18:46735927..46735937 [GRCh37] Chr18:18q21.1 |
likely pathogenic |
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 |
copy number gain |
not provided [RCV004819319] |
Chr18:19309942..78014123 [GRCh37] Chr18:18q11.2-23 |
pathogenic |
GRCh37/hg19 18q21.1(chr18:45566463-47717242)x3 |
copy number gain |
not provided [RCV004819639] |
Chr18:45566463..47717242 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1626T>C (p.Ser542=) |
single nucleotide variant |
Inborn genetic diseases [RCV004974733] |
Chr18:49163787 [GRCh38] Chr18:46690157 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.157T>G (p.Leu53Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004974732] |
Chr18:49391629 [GRCh38] Chr18:46917999 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.416A>C (p.Asn139Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004974730] |
Chr18:49378572 [GRCh38] Chr18:46904942 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1076A>G (p.Asn359Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004974729] |
Chr18:49282046 [GRCh38] Chr18:46808416 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1751AAG[1] (p.Glu585del) |
microsatellite |
Dyggve-Melchior-Clausen syndrome [RCV005026276] |
Chr18:49118899..49118901 [GRCh38] Chr18:46645269..46645271 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.553T>G (p.Cys185Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004974734] |
Chr18:49333795 [GRCh38] Chr18:46860165 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.2071G>A (p.Glu691Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004974731] |
Chr18:49044159 [GRCh38] Chr18:46570529 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.495-20_495-19del |
microsatellite |
not provided [RCV005171602] |
Chr18:49333872..49333873 [GRCh38] Chr18:46860242..46860243 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1830C>T (p.Tyr610=) |
single nucleotide variant |
not provided [RCV005085993] |
Chr18:49118825 [GRCh38] Chr18:46645195 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.421+20A>G |
single nucleotide variant |
not provided [RCV005088784] |
Chr18:49378547 [GRCh38] Chr18:46904917 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1215G>A (p.Thr405=) |
single nucleotide variant |
not provided [RCV005086148] |
Chr18:49272214 [GRCh38] Chr18:46798584 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1148T>G (p.Leu383Arg) |
single nucleotide variant |
not provided [RCV005174044] |
Chr18:49272281 [GRCh38] Chr18:46798651 [GRCh37] Chr18:18q21.1 |
uncertain significance |
NM_001353214.3(DYM):c.1035T>C (p.Ser345=) |
single nucleotide variant |
not provided [RCV005172341] |
Chr18:49282087 [GRCh38] Chr18:46808457 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1296A>G (p.Glu432=) |
single nucleotide variant |
not provided [RCV005205252] |
Chr18:49258449 [GRCh38] Chr18:46784819 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1626-4C>G |
single nucleotide variant |
not provided [RCV005129995] |
Chr18:49163791 [GRCh38] Chr18:46690161 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1839T>G (p.Leu613=) |
single nucleotide variant |
not provided [RCV005150180] |
Chr18:49118816 [GRCh38] Chr18:46645186 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.18C>T (p.Ser6=) |
single nucleotide variant |
not provided [RCV005136020] |
Chr18:49430377 [GRCh38] Chr18:46956747 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.421+16A>C |
single nucleotide variant |
not provided [RCV005163980] |
Chr18:49378551 [GRCh38] Chr18:46904921 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.871T>C (p.Leu291=) |
single nucleotide variant |
not provided [RCV005182223] |
Chr18:49286509 [GRCh38] Chr18:46812879 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.288-17G>A |
single nucleotide variant |
not provided [RCV005169054] |
Chr18:49378717 [GRCh38] Chr18:46905087 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.880C>T (p.Leu294=) |
single nucleotide variant |
not provided [RCV005070377] |
Chr18:49286500 [GRCh38] Chr18:46812870 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1149G>A (p.Leu383=) |
single nucleotide variant |
not provided [RCV005193763] |
Chr18:49272280 [GRCh38] Chr18:46798650 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.813T>C (p.Ala271=) |
single nucleotide variant |
not provided [RCV005079599] |
Chr18:49286567 [GRCh38] Chr18:46812937 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.870G>T (p.Val290=) |
single nucleotide variant |
not provided [RCV005081526] |
Chr18:49286510 [GRCh38] Chr18:46812880 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.1912-17A>T |
single nucleotide variant |
not provided [RCV005148573] |
Chr18:49097532 [GRCh38] Chr18:46623902 [GRCh37] Chr18:18q21.1 |
likely benign |
NM_001353214.3(DYM):c.600G>A (p.Lys200=) |
single nucleotide variant |
not provided [RCV005152867] |
Chr18:49333748 [GRCh38] Chr18:46860118 [GRCh37] Chr18:18q21.1 |
likely benign |