Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_153717.2(EVC):c.735delT (p.Asp246Thrfs) | 2121 | EVC | Pathogenic | 587776619 | RCV000005669; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5743475 | 5743475 | NM_153717.2:c.735delT | NP_714928.1:p.Asp246Thrfs | | OMIM Allelic Variant:604831.0004 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_153717.2(EVC):c.919T>C (p.Ser307Pro) | 2121 | EVC | Pathogenic | 121908426 | RCV000005672; RCV000005671; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005; MedGen:C0457013,OMIM:193530,ORPHA:952,SNOMED CT:277807007 | 4 | 5747048 | 5747048 | NM_153717.2:c.919T>C | NP_714928.1:p.Ser307Pro | NC_000004.11:g.5747048T>C | OMIM Allelic Variant:604831.0006 | C0013903 225500 Chondroectodermal dysplasia; C0457013 193530 Curry-Hall syndrome | | |
NM_153717.2(EVC):c.1018C>T (p.Arg340Ter) | 2121 | EVC | Pathogenic | 121908425 | RCV000005668; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5749953 | 5749953 | NM_153717.2:c.1018C>T | NP_714928.1:p.Arg340Ter | NC_000004.11:g.5749953C>T | OMIM Allelic Variant:604831.0003 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_153717.2(EVC):c.1328G>A (p.Arg443Gln) | 2121 | EVC | Pathogenic | 35953626 | RCV000005670; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5755524 | 5755524 | NM_153717.2:c.1328G>A | NP_714928.1:p.Arg443Gln | NC_000004.11:g.5755524G>A | OMIM Allelic Variant:604831.0005 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_153717.2(EVC):c.1886+5G>T | 2121 | EVC | Pathogenic | 794726665 | RCV000005666; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5795449 | 5795449 | NM_153717.2:c.1886+5G>T | | NC_000004.11:g.5795449G>T | OMIM Allelic Variant:604831.0001 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_153717.2(EVC):c.2457delG (p.Met820Trpfs) | 2121 | EVC | Pathogenic | 794726666 | RCV000005673; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5806464 | 5806464 | NM_153717.2:c.2457delG | NP_714928.1:p.Met820Trpfs | NC_000004.11:g.5806464delG | OMIM Allelic Variant:604831.0007 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_153717.2(EVC):c.2635C>T (p.Gln879Ter) | 2121 | EVC | Pathogenic | 121908424 | RCV000005667; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5810001 | 5810001 | NM_153717.2:c.2635C>T | NP_714928.1:p.Gln879Ter | NC_000004.11:g.5810001C>T | OMIM Allelic Variant:604831.0002 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_147127.4(EVC2):c.3405_3411delCGGGGCC (p.Gly1136Argfs) | 132884 | EVC2 | Pathogenic | 750396637 | RCV000176128; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5570317 | 5570323 | NM_147127.4:c.3405_3411delCGGGGCC | NP_667338.3:p.Gly1136Argfs | NC_000004.11:g.5570317_5570323delGGCCCCG | - | C0013903 225500 Chondroectodermal dysplasia | | |
NM_001166136.1(EVC2):c.3025C>T (p.Gln1009Ter) | 132884 | EVC2 | Pathogenic | 137852927 | RCV000003553; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5577974 | 5577974 | NM_001166136.1:c.3025C>T | NP_001159608.1:p.Gln1009Ter | NC_000004.11:g.5577974G>A | OMIM Allelic Variant:607261.0007 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_001166136.1(EVC2):c.2608C>T (p.Arg870Trp) | 132884 | EVC2 | Pathogenic | 137852928 | RCV000003554; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5586559 | 5586559 | NM_001166136.1:c.2608C>T | NP_001159608.1:p.Arg870Trp | NC_000004.11:g.5586559G>A | OMIM Allelic Variant:607261.0008 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_147127.4(EVC2):c.2653C>T (p.Arg885Ter) | 132884 | EVC2 | Pathogenic | 146538906 | RCV000023642; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5620258 | 5620258 | NM_147127.4:c.2653C>T | NP_667338.3:p.Arg885Ter | NC_000004.11:g.5620258G>A | OMIM Allelic Variant:607261.0011 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_147127.4(EVC2):c.2263C>T (p.Gln755Ter) | 132884 | EVC2 | Pathogenic | 751356206 | RCV000174810; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5624502 | 5624502 | NM_147127.4:c.2263C>T | NP_667338.3:p.Gln755Ter | NC_000004.11:g.5624502G>A | - | C0013903 225500 Chondroectodermal dysplasia | | |
NM_001166136.1(EVC2):c.1615C>T (p.Gln539Ter) | 132884 | EVC2 | Pathogenic | 137852925 | RCV000003551; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5630317 | 5630317 | NM_001166136.1:c.1615C>T | NP_001159608.1:p.Gln539Ter | NC_000004.11:g.5630317G>A | OMIM Allelic Variant:607261.0005 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_001166136.1(EVC2):c.955C>T (p.Arg319Ter) | 132884 | EVC2 | Pathogenic | 137852924 | RCV000003550; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5642516 | 5642516 | NM_001166136.1:c.955C>T | NP_001159608.1:p.Arg319Ter | NC_000004.11:g.5642516G>A | OMIM Allelic Variant:607261.0004 | C0013903 225500 Chondroectodermal dysplasia | | |
NM_001166136.1(EVC2):c.608T>G (p.Ile203Arg) | 132884 | EVC2 | Pathogenic | 137852926 | RCV000003552; | N | MedGen:C0013903,OMIM:225500,ORPHA:289,SNOMED CT:62501005 | 4 | 5683009 | 5683009 | NM_001166136.1:c.608T>G | NP_001159608.1:p.Ile203Arg | NC_000004.11:g.5683009A>C | OMIM Allelic Variant:607261.0006 | C0013903 225500 Chondroectodermal dysplasia | | |