| GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 |
copy number loss |
See cases [RCV000052776] |
Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22 |
pathogenic |
| GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1 |
copy number loss |
See cases [RCV000052780] |
Chr12:12388842..15540422 [GRCh38]
Chr12:12541776..15693356 [GRCh37]
Chr12:12433043..15584623 [NCBI36]
Chr12:12p13.2-12.3 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 |
copy number gain |
See cases [RCV000053660] |
Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 |
copy number gain |
See cases [RCV000053662] |
Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 |
copy number gain |
See cases [RCV000053666] |
Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_016312.2(WBP11):c.1177C>T (p.Pro393Ser) |
single nucleotide variant |
Malignant melanoma [RCV000069913] |
Chr12:14790588 [GRCh38]
Chr12:14943522 [GRCh37]
Chr12:14834789 [NCBI36]
Chr12:12p12.3 |
not provided |
| NM_001013698.2(SMCO3):c.182C>T (p.Thr61Ile) |
single nucleotide variant |
Malignant melanoma [RCV000069914] |
Chr12:14806499 [GRCh38]
Chr12:14959433 [GRCh37]
Chr12:14850700 [NCBI36]
Chr12:12p12.3 |
not provided |
| GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1 |
copy number loss |
See cases [RCV000135331] |
Chr12:12363649..15280588 [GRCh38]
Chr12:12514722..15433522 [GRCh37]
Chr12:12405989..15324789 [NCBI36]
Chr12:12p13.2-12.3 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 |
copy number gain |
See cases [RCV000136611] |
Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 |
copy number gain |
See cases [RCV000137694] |
Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 |
copy number gain |
See cases [RCV000139052] |
Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 |
copy number gain |
See cases [RCV000139787] |
Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 |
copy number gain |
See cases [RCV000141905] |
Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 |
copy number gain |
See cases [RCV000142149] |
Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 |
copy number loss |
See cases [RCV000142882] |
Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3 |
likely pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 |
copy number gain |
See cases [RCV000240164] |
Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| chr12:10074776-18800953 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207105] |
Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 |
copy number gain |
See cases [RCV000240487] |
Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 |
copy number gain |
See cases [RCV000449191] |
Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 |
copy number gain |
See cases [RCV000449287] |
Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
See cases [RCV000447551] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 |
copy number gain |
See cases [RCV000446050] |
Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) |
copy number gain |
See cases [RCV000446017] |
Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 |
copy number gain |
See cases [RCV000511580] |
Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
likely pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 |
copy number gain |
See cases [RCV000510961] |
Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22 |
pathogenic |
| NM_016312.3(WBP11):c.572C>T (p.Pro191Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003277128] |
Chr12:14794686 [GRCh38]
Chr12:14947620 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1787C>T (p.Pro596Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003243878] |
Chr12:14787204 [GRCh38]
Chr12:14940138 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
not provided [RCV000683479] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 |
copy number gain |
not provided [RCV000683478] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 |
copy number gain |
not provided [RCV000683480] |
Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 |
copy number gain |
not provided [RCV000750245] |
Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21 |
pathogenic |
| GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) |
copy number gain |
not provided [RCV000767817] |
Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 |
copy number gain |
not provided [RCV000847209] |
Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1 |
copy number loss |
not provided [RCV001006482] |
Chr12:11737824..16780886 [GRCh37]
Chr12:12p13.2-12.3 |
pathogenic |
| NM_016312.3(WBP11):c.612del (p.Gly205fs) |
deletion |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV001312231]|WBP11 spliceosomopathy [RCV001199834] |
Chr12:14794646 [GRCh38]
Chr12:14947580 [GRCh37]
Chr12:12p12.3 |
pathogenic|likely pathogenic |
| NM_016312.3(WBP11):c.484C>T (p.Gln162Ter) |
single nucleotide variant |
WBP11 spliceosomopathy [RCV001199831] |
Chr12:14795008 [GRCh38]
Chr12:14947942 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| NM_016312.3(WBP11):c.280C>T (p.Arg94Ter) |
single nucleotide variant |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV001312232]|WBP11 spliceosomopathy [RCV001199830] |
Chr12:14796914 [GRCh38]
Chr12:14949848 [GRCh37]
Chr12:12p12.3 |
pathogenic|likely pathogenic |
| NM_016312.3(WBP11):c.937A>G (p.Met313Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003290514] |
Chr12:14791247 [GRCh38]
Chr12:14944181 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1559dup (p.Gly521fs) |
duplication |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV003339526]|WBP11 spliceosomopathy [RCV001199832] |
Chr12:14787431..14787432 [GRCh38]
Chr12:14940365..14940366 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| NM_016312.3(WBP11):c.688C>T (p.Arg230Ter) |
single nucleotide variant |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV001312230]|WBP11 spliceosomopathy [RCV001199833] |
Chr12:14794570 [GRCh38]
Chr12:14947504 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 |
copy number gain |
not provided [RCV001006470] |
Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| NM_016312.3(WBP11):c.169A>G (p.Met57Val) |
single nucleotide variant |
WBP11 spliceosomopathy [RCV001199835] |
Chr12:14799656 [GRCh38]
Chr12:14952590 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.387+11dup |
duplication |
not provided [RCV001639627] |
Chr12:14796786..14796787 [GRCh38]
Chr12:14949720..14949721 [GRCh37]
Chr12:12p12.3 |
benign |
| NM_016312.3(WBP11):c.1792A>G (p.Arg598Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004683534] |
Chr12:14787199 [GRCh38]
Chr12:14940133 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.331G>T (p.Glu111Ter) |
single nucleotide variant |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV001754553] |
Chr12:14796863 [GRCh38]
Chr12:14949797 [GRCh37]
Chr12:12p12.3 |
likely pathogenic |
| NM_016312.3(WBP11):c.585del (p.Gly196fs) |
deletion |
Inborn genetic diseases [RCV004683533] |
Chr12:14794673 [GRCh38]
Chr12:14947607 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| NM_016312.3(WBP11):c.1592C>G (p.Pro531Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004683536] |
Chr12:14787399 [GRCh38]
Chr12:14940333 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) |
copy number gain |
not specified [RCV002052955] |
Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) |
copy number gain |
not specified [RCV002052957] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) |
copy number gain |
not specified [RCV002052958] |
Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11 |
pathogenic |
| NC_000012.11:g.(?_11803062)_(15835885_?)dup |
duplication |
Intellectual disability, autosomal dominant 6 [RCV001931714]|not provided [RCV001946435] |
Chr12:11803062..15835885 [GRCh37]
Chr12:12p13.2-12.3 |
uncertain significance|no classifications from unflagged records |
| NC_000012.11:g.(?_14849146)_(15669910_?)dup |
duplication |
not provided [RCV001978819] |
Chr12:14849146..15669910 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 |
copy number loss |
not provided [RCV002292878] |
Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1 |
pathogenic |
| NM_016312.3(WBP11):c.1505C>T (p.Pro502Leu) |
single nucleotide variant |
not provided [RCV002293845] |
Chr12:14787486 [GRCh38]
Chr12:14940420 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 |
copy number gain |
Pallister-Killian syndrome [RCV003154827] |
Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_016312.3(WBP11):c.431T>C (p.Met144Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002970501] |
Chr12:14795061 [GRCh38]
Chr12:14947995 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1802_1803del (p.Glu601fs) |
microsatellite |
Inborn genetic diseases [RCV002707841] |
Chr12:14787188..14787189 [GRCh38]
Chr12:14940122..14940123 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1104G>C (p.Lys368Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002845197] |
Chr12:14790661 [GRCh38]
Chr12:14943595 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.925C>T (p.Arg309Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002983865] |
Chr12:14791259 [GRCh38]
Chr12:14944193 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1039C>T (p.Arg347Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002873767] |
Chr12:14790726 [GRCh38]
Chr12:14943660 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1181C>T (p.Pro394Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002701572] |
Chr12:14790584 [GRCh38]
Chr12:14943518 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1148C>T (p.Thr383Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002744351]|not provided [RCV003395686] |
Chr12:14790617 [GRCh38]
Chr12:14943551 [GRCh37]
Chr12:12p12.3 |
benign|likely benign|uncertain significance |
| NM_016312.3(WBP11):c.742G>A (p.Asp248Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002965662] |
Chr12:14793902 [GRCh38]
Chr12:14946836 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.556C>G (p.Leu186Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002989617] |
Chr12:14794702 [GRCh38]
Chr12:14947636 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_016312.3(WBP11):c.509C>T (p.Thr170Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002718474] |
Chr12:14794983 [GRCh38]
Chr12:14947917 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1540C>A (p.Pro514Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002935022] |
Chr12:14787451 [GRCh38]
Chr12:14940385 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.99C>G (p.Asn33Lys) |
single nucleotide variant |
not provided [RCV003225420] |
Chr12:14799726 [GRCh38]
Chr12:14952660 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.758G>A (p.Ser253Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003181354] |
Chr12:14793886 [GRCh38]
Chr12:14946820 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.386A>G (p.Lys129Arg) |
single nucleotide variant |
not provided [RCV003223958] |
Chr12:14796808 [GRCh38]
Chr12:14949742 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1237_1251del (p.Leu413_Pro417del) |
deletion |
not provided [RCV003323256] |
Chr12:14790514..14790528 [GRCh38]
Chr12:14943448..14943462 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.280C>G (p.Arg94Gly) |
single nucleotide variant |
not provided [RCV003318865] |
Chr12:14796914 [GRCh38]
Chr12:14949848 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1298G>T (p.Gly433Val) |
single nucleotide variant |
not provided [RCV003319762] |
Chr12:14790467 [GRCh38]
Chr12:14943401 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.972G>A (p.Met324Ile) |
single nucleotide variant |
not provided [RCV003319091] |
Chr12:14791212 [GRCh38]
Chr12:14944146 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1493G>T (p.Gly498Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003381965] |
Chr12:14787498 [GRCh38]
Chr12:14940432 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1526C>A (p.Pro509Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003364647] |
Chr12:14787465 [GRCh38]
Chr12:14940399 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1521dup (p.Arg508fs) |
duplication |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV003332931] |
Chr12:14787469..14787470 [GRCh38]
Chr12:14940403..14940404 [GRCh37]
Chr12:12p12.3 |
pathogenic |
| NM_016312.3(WBP11):c.871C>T (p.Arg291Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003349568] |
Chr12:14793773 [GRCh38]
Chr12:14946707 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| Single allele |
duplication |
not provided [RCV003448692] |
Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_016312.3(WBP11):c.1397G>A (p.Arg466Gln) |
single nucleotide variant |
not provided [RCV003396258] |
Chr12:14789046 [GRCh38]
Chr12:14941980 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.251dup (p.Leu85fs) |
duplication |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV003388640] |
Chr12:14796942..14796943 [GRCh38]
Chr12:14949876..14949877 [GRCh37]
Chr12:12p12.3 |
likely pathogenic |
| NM_016312.3(WBP11):c.191-8_191-3del |
deletion |
WBP11-related disorder [RCV003429070] |
Chr12:14797006..14797011 [GRCh38]
Chr12:14949940..14949945 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1213C>T (p.Pro405Ser) |
single nucleotide variant |
not provided [RCV003390184] |
Chr12:14790552 [GRCh38]
Chr12:14943486 [GRCh37]
Chr12:12p12.3 |
likely benign |
| NM_016312.3(WBP11):c.1192C>G (p.Pro398Ala) |
single nucleotide variant |
WBP11-related disorder [RCV003410533] |
Chr12:14790573 [GRCh38]
Chr12:14943507 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1203G>C (p.Gln401His) |
single nucleotide variant |
not provided [RCV003390185] |
Chr12:14790562 [GRCh38]
Chr12:14943496 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 |
copy number gain |
not specified [RCV003986979] |
Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_016312.3(WBP11):c.1396C>T (p.Arg466Ter) |
single nucleotide variant |
not provided [RCV003887682] |
Chr12:14789047 [GRCh38]
Chr12:14941981 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.533G>A (p.Arg178Gln) |
single nucleotide variant |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV004555993] |
Chr12:14794725 [GRCh38]
Chr12:14947659 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.734ATG[3] (p.Asp248del) |
microsatellite |
not provided [RCV004585839] |
Chr12:14793899..14793901 [GRCh38]
Chr12:14946833..14946835 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1093G>A (p.Glu365Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004478045] |
Chr12:14790672 [GRCh38]
Chr12:14943606 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1352G>A (p.Arg451Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004478046] |
Chr12:14789091 [GRCh38]
Chr12:14942025 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1541C>A (p.Pro514His) |
single nucleotide variant |
Inborn genetic diseases [RCV004478047] |
Chr12:14787450 [GRCh38]
Chr12:14940384 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1716G>C (p.Lys572Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004478048] |
Chr12:14787275 [GRCh38]
Chr12:14940209 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.1820C>T (p.Pro607Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004478049] |
Chr12:14787171 [GRCh38]
Chr12:14940105 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.574C>A (p.Arg192Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004478050] |
Chr12:14794684 [GRCh38]
Chr12:14947618 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.706T>C (p.Tyr236His) |
single nucleotide variant |
Inborn genetic diseases [RCV004478051] |
Chr12:14794552 [GRCh38]
Chr12:14947486 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.868C>T (p.His290Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004478052] |
Chr12:14793776 [GRCh38]
Chr12:14946710 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
| NM_016312.3(WBP11):c.64+1G>A |
single nucleotide variant |
not provided [RCV004698243] |
Chr12:14801319 [GRCh38]
Chr12:14954253 [GRCh37]
Chr12:12p12.3 |
likely pathogenic |
| NM_016312.3(WBP11):c.914G>T (p.Gly305Val) |
single nucleotide variant |
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [RCV004566632] |
Chr12:14791270 [GRCh38]
Chr12:14944204 [GRCh37]
Chr12:12p12.3 |
uncertain significance |
