Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_018344.5(SLC29A3):c.73C>T (p.Arg25Ter) | 55315 | SLC29A3 | Pathogenic | 746408350 | RCV000192336; | N | MedGen:C1864445,OMIM:602782 | 10 | 73082584 | 73082584 | NM_018344.5:c.73C>T | NP_060814.4:p.Arg25Ter | NC_000010.10:g.73082584C>T | - | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.300+1G>A | 55315 | SLC29A3 | Pathogenic | 587780463 | RCV000118377; | N | MedGen:C1864445,OMIM:602782 | 10 | 73082812 | 73082812 | NM_018344.5:c.300+1G>A | | NC_000010.10:g.73082812G>A | - | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.308_309delTT (p.Phe103Terfs) | 55315 | SLC29A3 | Pathogenic | 796052139 | RCV000023937; | N | MedGen:C1864445,OMIM:602782 | 10 | 73103973 | 73103974 | NM_018344.5:c.308_309delTT | NP_060814.4:p.Phe103Terfs | NC_000010.10:g.73103973_73103974delTT | OMIM Allelic Variant:612373.0009 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.347T>G (p.Met116Arg) | 55315 | SLC29A3 | Pathogenic | 267607057 | RCV000000598; | N | MedGen:C1864445,OMIM:602782 | 10 | 73104012 | 73104012 | NM_018344.5:c.347T>G | NP_060814.4:p.Met116Arg | NC_000010.10:g.73104012T>G | OMIM Allelic Variant:612373.0006 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.607T>C (p.Ser203Pro) | 55315 | SLC29A3 | Pathogenic | 397514626 | RCV000033098; | N | MedGen:C1864445,OMIM:602782 | 10 | 73111542 | 73111542 | NM_018344.5:c.607T>C | NP_060814.4:p.Ser203Pro | NC_000010.10:g.73111542T>C | OMIM Allelic Variant:612373.0014 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.940delT (p.Tyr314Thrfs) | 55315 | SLC29A3 | Pathogenic | 869025177 | RCV000000597; | N | MedGen:C1864445,OMIM:602782 | 10 | 73121877 | 73121877 | NM_018344.5:c.940delT | NP_060814.4:p.Tyr314Thrfs | NC_000010.10:g.73121877delT | OMIM Allelic Variant:612373.0005,SLC29A3 @ LOVD:SLC29A3_00005 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1045delC (p.Leu349Serfs) | 55315 | SLC29A3 | Pathogenic | 869025176 | RCV000000596; | N | MedGen:C1864445,OMIM:602782 | 10 | 73121982 | 73121982 | NM_018344.5:c.1045delC | NP_060814.4:p.Leu349Serfs | NC_000010.10:g.73121982delC | OMIM Allelic Variant:612373.0003,SLC29A3 @ LOVD:SLC29A3_00003 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1087C>T (p.Arg363Trp) | 55315 | SLC29A3 | Pathogenic | 387907067 | RCV000023939; | N | MedGen:C1864445,OMIM:602782 | 10 | 73122024 | 73122024 | NM_018344.5:c.1087C>T | NP_060814.4:p.Arg363Trp | NC_000010.10:g.73122024C>T | OMIM Allelic Variant:612373.0011 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1088G>A (p.Arg363Gln) | 55315 | SLC29A3 | Pathogenic | 387907066 | RCV000023938; | N | MedGen:C1864445,OMIM:602782 | 10 | 73122025 | 73122025 | NM_018344.5:c.1088G>A | NP_060814.4:p.Arg363Gln | NC_000010.10:g.73122025G>A | OMIM Allelic Variant:612373.0010 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1157G>A (p.Arg386Gln) | 55315 | SLC29A3 | Pathogenic | 397515429 | RCV000033097; | N | MedGen:C1864445,OMIM:602782 | 10 | 73122094 | 73122094 | NM_018344.5:c.1157G>A | NP_060814.4:p.Arg386Gln | NC_000010.10:g.73122094G>A | OMIM Allelic Variant:612373.0013 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1228C>T (p.Gln410Ter) | 55315 | SLC29A3 | Pathogenic | 587780462 | RCV000118376; | N | MedGen:C1864445,OMIM:602782 | 10 | 73122165 | 73122165 | NM_018344.5:c.1228C>T | NP_060814.4:p.Gln410Ter | NC_000010.10:g.73122165C>T | - | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1279G>A (p.Gly427Ser) | 55315 | SLC29A3 | Pathogenic | 121912583 | RCV000000593; | N | MedGen:C1864445,OMIM:602782 | 10 | 73122216 | 73122216 | NM_018344.5:c.1279G>A | NP_060814.4:p.Gly427Ser | NC_000010.10:g.73122216G>A | OMIM Allelic Variant:612373.0001 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1309G>A (p.Gly437Arg) | 55315 | SLC29A3 | Pathogenic | 121912584 | RCV000000595; | N | MedGen:C1864445,OMIM:602782 | 10 | 73122246 | 73122246 | NM_018344.5:c.1309G>A | NP_060814.4:p.Gly437Arg | NC_000010.10:g.73122246G>A | OMIM Allelic Variant:612373.0002 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1330G>T (p.Glu444Ter) | 55315 | SLC29A3 | Pathogenic | 267607056 | RCV000000594; | N | MedGen:C1864445,OMIM:602782 | 10 | 73122267 | 73122267 | NM_018344.5:c.1330G>T | NP_060814.4:p.Glu444Ter | NC_000010.10:g.73122267G>T | OMIM Allelic Variant:612373.0004 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |
NM_018344.5(SLC29A3):c.1346C>G (p.Thr449Arg) | 55315 | SLC29A3 | Pathogenic | 267607058 | RCV000000599; | N | MedGen:C1864445,OMIM:602782 | 10 | 73122283 | 73122283 | NM_018344.5:c.1346C>G | NP_060814.4:p.Thr449Arg | NC_000010.10:g.73122283C>G | OMIM Allelic Variant:612373.0007 | C1864445 602782 Histiocytosis-lymphadenopathy plus syndrome | | |