| GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052779]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052779]|See cases [RCV000052779] |
Chr12:6728665..7705620 [GRCh38]
Chr12:6837831..7858216 [GRCh37]
Chr12:6708092..7749483 [NCBI36]
Chr12:12p13.31 |
pathogenic |
| GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 |
copy number loss |
Global developmental delay [RCV000052776]|See cases [RCV000052776] |
Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22 |
pathogenic |
| GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 |
copy number gain |
Corpus callosum agenesis [RCV000053662]|See cases [RCV000053662] |
Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1 |
pathogenic |
| GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 |
copy number gain |
Global developmental delay [RCV000053663]|See cases [RCV000053663] |
Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31 |
pathogenic |
| GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] |
Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053666]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053666]|See cases [RCV000053666] |
Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 |
copy number gain |
Global developmental delay [RCV000053660]|Coarse facial features [RCV000053661]|See cases [RCV000053660] |
Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1 |
pathogenic |
| NM_001733.4(C1R):c.553G>A (p.Asp185Asn) |
single nucleotide variant |
Malignant melanoma [RCV000070193] |
Chr12:7089605 [GRCh38]
Chr12:7242201 [GRCh37]
Chr12:7133342 [NCBI36]
Chr12:12p13.31 |
not provided |
| 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-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 12p13.33-11.1(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 12p13.31(chr12:7055795-7428473)x3 |
copy number gain |
See cases [RCV000141432] |
Chr12:7055795..7428473 [GRCh38]
Chr12:7163099..7581069 [GRCh37]
Chr12:7033360..7472336 [NCBI36]
Chr12:12p13.31 |
uncertain significance |
| 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 |
| 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 |
| NM_001733.7(C1R):c.869A>G (p.Asp290Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755110]|Ehlers-Danlos syndrome, type 8 [RCV000258064] |
Chr12:7088886 [GRCh38]
Chr12:7241482 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755118]|Ehlers-Danlos syndrome, type 8 [RCV000258068] |
Chr12:7086423 [GRCh38]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.902G>C (p.Arg301Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755113]|Ehlers-Danlos syndrome, type 8 [RCV000258069] |
Chr12:7088853 [GRCh38]
Chr12:7241449 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) |
indel |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755115]|Ehlers-Danlos syndrome, type 8 [RCV000258071] |
Chr12:7088721..7088731 [GRCh38]
Chr12:7241317..7241327 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.927C>G (p.Cys309Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755116]|Ehlers-Danlos syndrome, type 8 [RCV000258072] |
Chr12:7088721 [GRCh38]
Chr12:7241317 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.4:c.149_150TC>AT |
variation |
Ehlers-Danlos syndrome, type 8 [RCV000258073] |
Chr12:12p13.31 |
pathogenic |
| NM_001733.7(C1R):c.899T>C (p.Leu300Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755112]|Ehlers-Danlos syndrome, type 8 [RCV000258067] |
Chr12:7088856 [GRCh38]
Chr12:7241452 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| Single allele |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] |
pathogenic|likely pathogenic |
| 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 |
| NM_001733.6:c.1200_1215delCCGTATCCAGTACTACinsTCATGTAATA |
indel |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755121] |
|
likely pathogenic |
| NM_001733.7(C1R):c.277G>T (p.Gly93Cys) |
single nucleotide variant |
not provided [RCV000733341] |
Chr12:7090203 [GRCh38]
Chr12:7242799 [GRCh37]
Chr12:12p13.31 |
uncertain significance |
| NM_001733.7(C1R):c.890G>A (p.Gly297Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755111]|Ehlers-Danlos syndrome, type 8 [RCV000412507] |
Chr12:7088865 [GRCh38]
Chr12:7241461 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) |
indel |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755109]|Ehlers-Danlos syndrome, type 8 [RCV000412647] |
Chr12:7091533..7091534 [GRCh38]
Chr12:7244129..7244130 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NC_000012.12:g.(1_3750000)_(5250000_9000000)del |
deletion |
Tumoral calcinosis, familial, hyperphosphatemic [RCV000758697] |
Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31 |
pathogenic |
| NM_001733.7(C1R):c.336G>C (p.Met112Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, type 8 [RCV000767907] |
Chr12:7090144 [GRCh38]
Chr12:7242740 [GRCh37]
Chr12:12p13.31 |
uncertain significance |
| 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 12p13.33-13.31(chr12:173786-8257049)x3 |
copy number gain |
See cases [RCV000446749] |
Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31 |
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 |
| NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) |
indel |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755121]|Ehlers-Danlos syndrome, type 8 [RCV000417044] |
Chr12:7085919..7085934 [GRCh38]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755114]|Ehlers-Danlos syndrome, type 8 [RCV000417060] |
Chr12:7088850 [GRCh38]
Chr12:7241446 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755120]|Ehlers-Danlos syndrome, type 8 [RCV000417063] |
Chr12:7086383 [GRCh38]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755119]|Ehlers-Danlos syndrome, type 8 [RCV000417050] |
Chr12:7086404 [GRCh38]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755117]|Ehlers-Danlos syndrome, type 8 [RCV000417066] |
Chr12:7088636 [GRCh38]
Chr12:7241232 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely pathogenic |
| NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, periodontal type, 2 [RCV000755122]|Ehlers-Danlos syndrome, type 8 [RCV000417057] |
Chr12:7082077 [GRCh38]
Chr12:7189381 [GRCh37]
Chr12:12p13.31 |
pathogenic|likely 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 12p13.33-13.2(chr12:173786-11677456)x3 |
copy number gain |
See cases [RCV000510853] |
Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2 |
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_001733.7(C1R):c.1977A>G (p.Ala659=) |
single nucleotide variant |
not specified [RCV000603508] |
Chr12:7080673 [GRCh38]
Chr12:7187977 [GRCh37]
Chr12:12p13.31 |
likely benign |
| NM_001733.7(C1R):c.926G>A (p.Cys309Tyr) |
single nucleotide variant |
not provided [RCV000658635] |
Chr12:7088722 [GRCh38]
Chr12:7241318 [GRCh37]
Chr12:12p13.31 |
likely 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 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
not provided [RCV000683479] |
Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1 |
pathogenic |
| GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 |
copy number gain |
not provided [RCV000683477] |
Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31 |
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 12p13.31(chr12:6911437-9381254)x3 |
copy number gain |
not provided [RCV000750277] |
Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31 |
uncertain significance |
| 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 12p13.33-13.31(chr12:189216-8185497) |
copy number gain |
not provided [RCV000767819] |
Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31 |
pathogenic |
| NC_000012.11:g.(?_6945914)_(9027627_?)dup |
duplication |
not provided [RCV000816630] |
Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31 |
uncertain significance |
| GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) |
copy number gain |
not provided [RCV000767818] |
Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31 |
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 |
| NM_001733.7(C1R):c.425-14T>C |
single nucleotide variant |
not provided [RCV000788121] |
Chr12:7089747 [GRCh38]
Chr12:7242343 [GRCh37]
Chr12:12p13.31 |
uncertain significance |
| GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 |
copy number gain |
not provided [RCV000846343] |
Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31 |
pathogenic |
| GRCh37/hg19 12p13.31(chr12:7162134-7605102)x3 |
copy number gain |
not provided [RCV000849455] |
Chr12:7162134..7605102 [GRCh37]
Chr12:12p13.31 |
uncertain significance |
Gene-Chemical Interaction Annotations
