Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001042537.1(SLC9A6):c.183delG (p.Lys61Asnfs) | 10479 | SLC9A6 | Pathogenic | 587784398 | RCV000147540; | N | MedGen:C2678194,OMIM:300243 | X | 135067844 | 135067844 | NM_001042537.1:c.183delG | NP_001036002.1:p.Lys61Asnfs | NC_000023.10:g.135067844delG | - | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) | 10479 | SLC9A6 | Uncertain significance | 587784400 | RCV000147543; | N | MedGen:C2678194,OMIM:300243 | X | 135076986 | 135076986 | NM_001042537.1:c.367C>T | NP_001036002.1:p.Pro123Ser | NC_000023.10:g.135076986C>T | - | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) | 10479 | SLC9A6 | Uncertain significance | 587784401 | RCV000147544; | N | MedGen:C2678194,OMIM:300243 | X | 135077031 | 135077031 | NM_001042537.1:c.412A>G | NP_001036002.1:p.Ser138Gly | NC_000023.10:g.135077031A>G | - | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.603+3_603+4delAAinsCC | 10479 | SLC9A6 | Pathogenic | 730882187 | RCV000012233; | N | MedGen:C2678194,OMIM:300243 | X | 135080347 | 135080348 | NM_001042537.1:c.603+3_603+4delAAinsCC | | NC_000023.10:g.135080347_135080348delAAinsCC | OMIM Allelic Variant:300231.0003 | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.604-1G>A | 10479 | SLC9A6 | Pathogenic | 797044508 | RCV000153971; | N | MedGen:C2678194,OMIM:300243 | X | 135080640 | 135080640 | NM_001042537.1:c.604-1G>A | | NC_000023.10:g.135080640G>A | - | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.608_609delAT (p.His203Leufs) | 10479 | SLC9A6 | Pathogenic | 730882188 | RCV000012234; | N | MedGen:C2678194,OMIM:300243 | X | 135080645 | 135080646 | NM_001042537.1:c.608_609delAT | NP_001036002.1:p.His203Leufs | NC_000023.10:g.135080645_135080646delAT | OMIM Allelic Variant:300231.0004 | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) | 10479 | SLC9A6 | Uncertain significance | 587784402 | RCV000147545; | N | MedGen:C2678194,OMIM:300243 | X | 135081019 | 135081019 | NM_001042537.1:c.685A>G | NP_001036002.1:p.Ile229Val | NC_000023.10:g.135081019A>G | - | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) | 10479 | SLC9A6 | Pathogenic | 398122849 | RCV000022841; | N | MedGen:C2678194,OMIM:300243 | X | 135092713 | 135092721 | NM_001042537.1:c.1012_1020delGGTGCTGCT | NP_001036002.1:p.Gly338_Ala340del | NC_000023.10:g.135092713_135092721delGGTGCTGCT | OMIM Allelic Variant:300231.0005 | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter) | 10479 | SLC9A6 | Pathogenic | 122461162 | RCV000012232; | N | MedGen:C2678194,OMIM:300243 | X | 135106524 | 135106524 | NM_001042537.1:c.1498C>T | NP_001036002.1:p.Arg500Ter | NC_000023.10:g.135106524C>T | OMIM Allelic Variant:300231.0002 | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) | 10479 | SLC9A6 | Pathogenic | 398123003 | RCV000077787; | N | MedGen:C2678194,OMIM:300243 | X | 135112313 | 135112313 | NM_001042537.1:c.1639G>T | NP_001036002.1:p.Glu547Ter | NC_000023.10:g.135112313G>T | OMIM Allelic Variant:300231.0006 | C2678194 300243 Christianson syndrome | | |
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) | 10479 | SLC9A6 | Pathogenic | 587784399 | RCV000147541; | N | MedGen:C2678194,OMIM:300243 | X | 135126855 | 135126855 | NM_001042537.1:c.2078T>G | NP_001036002.1:p.Leu693Ter | NC_000023.10:g.135126855T>G | - | C2678194 300243 Christianson syndrome | | |