Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_020461.3(TUBGCP6):c.5458T>G (p.Ter1820Gly) | 85378 | TUBGCP6 | Pathogenic | 387907019 | RCV000023794; | N | MedGen:C1855056,OMIM:251270 | 22 | 50656167 | 50656167 | NM_020461.3:c.5458T>G | NP_065194.2:p.Ter1820Gly | NC_000022.10:g.50656167A>C | OMIM Allelic Variant:610053.0001 | C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive | | |
NM_020461.3(TUBGCP6):c.4333_4334insT (p.His1445Leufs) | 85378 | TUBGCP6 | Pathogenic | 727502807 | RCV000149797; | N | MedGen:C1855056,OMIM:251270 | 22 | 50657867 | 50657868 | NM_020461.3:c.4333_4334insT | NP_065194.2:p.His1445Leufs | NC_000022.10:g.50657867_50657868insA | OMIM Allelic Variant:610053.0002 | C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive | | |
NM_020461.3(TUBGCP6):c.3565G>T (p.Gly1189Ter) | 85378 | TUBGCP6 | Pathogenic | 724159976 | RCV000149800; | N | MedGen:C1855056,OMIM:251270 | 22 | 50659223 | 50659223 | NM_020461.3:c.3565G>T | NP_065194.2:p.Gly1189Ter | NC_000022.10:g.50659223C>A | OMIM Allelic Variant:610053.0005 | C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive | | |
NM_020461.3(TUBGCP6):c.3163C>T (p.His1055Tyr) | 85378 | TUBGCP6 | Pathogenic | 724159997 | RCV000149801; | N | MedGen:C1855056,OMIM:251270 | 22 | 50659625 | 50659625 | NM_020461.3:c.3163C>T | NP_065194.2:p.His1055Tyr | NC_000022.10:g.50659625G>A | OMIM Allelic Variant:610053.0006 | C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive | | |
NM_020461.3(TUBGCP6):c.2546A>G (p.Glu849Gly) | 85378 | TUBGCP6 | Pathogenic | 368449236 | RCV000149799; | N | MedGen:C1855056,OMIM:251270 | 22 | 50660242 | 50660242 | NM_020461.3:c.2546A>G | NP_065194.2:p.Glu849Gly | NC_000022.10:g.50660242T>C | OMIM Allelic Variant:610053.0004 | C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive | | |
NM_020461.3(TUBGCP6):c.2215C>T (p.Arg739Ter) | 85378 | TUBGCP6 | Pathogenic | 724159975 | RCV000149798; | N | MedGen:C1855056,OMIM:251270 | 22 | 50662625 | 50662625 | NM_020461.3:c.2215C>T | NP_065194.2:p.Arg739Ter | NC_000022.10:g.50662625G>A | OMIM Allelic Variant:610053.0003 | C1855056 251270 Microcephaly with chorioretinopathy, autosomal recessive | | |