Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000112.3(SLC26A2):c.374A>T (p.Gln125Leu) | 1836 | SLC26A2 | Pathogenic | -1 | RCV000211636; | N | MedGen:C1850554,OMIM:256050 | 5 | 149357589 | 149357589 | NM_000112.3:c.374A>T | NP_000103.2:p.Gln125Leu | | - | C1850554 256050 Atelosteogenesis type 2 | | |
NM_000112.3(SLC26A2):c.391delC (p.Leu131Cysfs) | 1836 | SLC26A2 | Pathogenic | 786200881 | RCV000004304; | N | MedGen:C1850554,OMIM:256050 | 5 | 149357606 | 149357606 | NM_000112.3:c.391delC | NP_000103.2:p.Leu131Cysfs | NC_000005.9:g.149357606delC | OMIM Allelic Variant:606718.0012 | C1850554 256050 Atelosteogenesis type 2 | | |
NM_000112.3(SLC26A2):c.764G>A (p.Gly255Glu) | 1836 | SLC26A2 | Pathogenic | 104893917 | RCV000004308; | N | MedGen:C1850554,OMIM:256050 | 5 | 149359920 | 149359920 | NM_000112.3:c.764G>A | NP_000103.2:p.Gly255Glu | NC_000005.9:g.149359920G>A | OMIM Allelic Variant:606718.0003 | C1850554 256050 Atelosteogenesis type 2 | | |
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) | 1836 | SLC26A2 | Pathogenic | 104893915 | RCV000004306; RCV000004305; RCV000004307; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C1847593,OMIM:226900,ORPHA:93307; MedGen:C1850554,OMIM:256050 | 5 | 149359991 | 149359991 | NM_000112.3:c.835C>T | NP_000103.2:p.Arg279Trp | NC_000005.9:g.149359991C>T | OMIM Allelic Variant:606718.0002 | C1850554 256050 Atelosteogenesis type 2; C0220726 222600 Diastrophic dysplasia; C1847593 226900 Multiple epiphyseal dysplasia 4 | | |
NM_000112.3(SLC26A2):c.1724delA (p.Lys575Serfs) | 1836 | SLC26A2 | Likely pathogenic;Pathogenic | 386833498 | RCV000004302; RCV000004303; RCV000023567; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002; MedGen:C1850554,OMIM:256050 | 5 | 149360880 | 149360880 | NM_000112.3:c.1724delA | NP_000103.2:p.Lys575Serfs | NC_000005.9:g.149360880delA | OMIM Allelic Variant:606718.0001 | C0265274 600972 Achondrogenesis, type IB; C1850554 256050 Atelosteogenesis type 2; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1 | | |
NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) | 1836 | SLC26A2 | Pathogenic | 104893918 | RCV000004309; | N | MedGen:C1850554,OMIM:256050 | 5 | 149361300 | 149361300 | NM_000112.3:c.2144C>T | NP_000103.2:p.Ala715Val | NC_000005.9:g.149361300C>T | OMIM Allelic Variant:606718.0004 | C1850554 256050 Atelosteogenesis type 2 | | |