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.451delT (p.Tyr151Ilefs) | 1836 | SLC26A2 | Likely pathogenic | 786204675 | RCV000169481; | N | MedGen:C1847593,OMIM:226900,ORPHA:93307 | 5 | 149357666 | 149357666 | NM_000112.3:c.451delT | NP_000103.2:p.Tyr151Ilefs | NC_000005.9:g.149357666delT | - | C1847593 226900 Multiple epiphyseal dysplasia 4 | | |
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) | 1836 | SLC26A2 | Pathogenic | 104893919 | RCV000004310; RCV000175526; RCV000023568; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002; MedGen:C1847593,OMIM:226900,ORPHA:93307 | 5 | 149357747 | 149357747 | NM_000112.3:c.532C>T | NP_000103.2:p.Arg178Ter | NC_000005.9:g.149357747C>T | OMIM Allelic Variant:606718.0005 | C0265274 600972 Achondrogenesis, type IB; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1; C1847593 226900 Multiple epiphyseal dysplasia 4 | | |
NM_000112.3(SLC26A2):c.700-1G>C | 1836 | SLC26A2 | Likely pathogenic | 200963884 | RCV000049436; RCV000169177; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C1847593,OMIM:226900,ORPHA:93307 | 5 | 149359855 | 149359855 | NM_000112.3:c.700-1G>C | | NC_000005.9:g.149359855G>C | - | C0220726 222600 Diastrophic dysplasia; C1847593 226900 Multiple epiphyseal dysplasia 4 | | |
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.1020_1022delTGT (p.Val341del) | 1836 | SLC26A2 | Likely pathogenic;Pathogenic | 121908077 | RCV000055756; RCV000169159; RCV000023571; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002; MedGen:C1847593,OMIM:226900,ORPHA:93307 | 5 | 149360176 | 149360178 | NM_000112.3:c.1020_1022delTGT | NP_000103.2:p.Val341del | NC_000005.9:g.149360176_149360178delTGT | OMIM Allelic Variant:606718.0008 | C0265274 600972 Achondrogenesis, type IB; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1; C1847593 226900 Multiple epiphyseal dysplasia 4 | | |
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) | 1836 | SLC26A2 | Benign;Likely benign | 78676079 | RCV000055759; RCV000169071; RCV000176980; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C1847593,OMIM:226900,ORPHA:93307; MedGen:CN169374 | 5 | 149360630 | 149360630 | NM_000112.3:c.1474C>T | NP_000103.2:p.Arg492Trp | NC_000005.9:g.149360630C>T | - | C0220726 222600 Diastrophic dysplasia; C1847593 226900 Multiple epiphyseal dysplasia 4; CN169374 not specified | | |
NM_000112.3(SLC26A2):c.1650delG (p.Ser551Valfs) | 1836 | SLC26A2 | Likely pathogenic | 386833497 | RCV000049425; RCV000169577; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C1847593,OMIM:226900,ORPHA:93307 | 5 | 149360806 | 149360806 | NM_000112.3:c.1650delG | NP_000103.2:p.Ser551Valfs | NC_000005.9:g.149360806delG | - | C0220726 222600 Diastrophic dysplasia; C1847593 226900 Multiple epiphyseal dysplasia 4 | | |
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) | 1836 | SLC26A2 | Pathogenic | 104893924 | RCV000055760; RCV000004313; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C1847593,OMIM:226900,ORPHA:93307 | 5 | 149361113 | 149361113 | NM_000112.3:c.1957T>A | NP_000103.2:p.Cys653Ser | NC_000005.9:g.149361113T>A | OMIM Allelic Variant:606718.0011 | C0220726 222600 Diastrophic dysplasia; C1847593 226900 Multiple epiphyseal dysplasia 4 | | |
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) | 1836 | SLC26A2 | Likely pathogenic;Pathogenic | 104893916 | RCV000055761; RCV000169017; RCV000023570; | N | MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002; MedGen:C1847593,OMIM:226900,ORPHA:93307 | 5 | 149361189 | 149361189 | NM_000112.3:c.2033G>T | NP_000103.2:p.Gly678Val | NC_000005.9:g.149361189G>T | OMIM Allelic Variant:606718.0007 | C0265274 600972 Achondrogenesis, type IB; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1; C1847593 226900 Multiple epiphyseal dysplasia 4 | | |