Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_033409.3(SLC52A3):c.1371C>G (p.Phe457Leu) | 113278 | SLC52A3 | Pathogenic | 145431028 | RCV000191974; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 741709 | 741709 | NM_033409.3:c.1371C>G | NP_212134.3:p.Phe457Leu | NC_000020.10:g.741709G>C | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.1325_1326delTC (p.Leu442Argfs) | 113278 | SLC52A3 | Pathogenic | 794728004 | RCV000000162; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 741754 | 741755 | NM_033409.3:c.1325_1326delTC | NP_212134.3:p.Leu442Argfs | NC_000020.10:g.741754_741755delGA | OMIM Allelic Variant:613350.0001 | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.1296C>A (p.Cys432Ter) | 113278 | SLC52A3 | Pathogenic | 758570021 | RCV000191972; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 741784 | 741784 | NM_033409.3:c.1296C>A | NP_212134.3:p.Cys432Ter | NC_000020.10:g.741784G>T | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.1255G>A (p.Val419Met) | 113278 | SLC52A3 | Pathogenic | 797045198 | RCV000191980; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 741825 | 741825 | NM_033409.3:c.1255G>A | NP_212134.3:p.Val419Met | NC_000020.10:g.741825C>T | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.1238T>C (p.Val413Ala) | 113278 | SLC52A3 | Pathogenic | 267606687 | RCV000000167; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 741842 | 741842 | NM_033409.3:c.1238T>C | NP_212134.3:p.Val413Ala | NC_000020.10:g.741842A>G | OMIM Allelic Variant:613350.0006 | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.1198-2A>C | 113278 | SLC52A3 | Pathogenic | 754753126 | RCV000191970; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 741884 | 741884 | NM_033409.3:c.1198-2A>C | | NC_000020.10:g.741884T>G | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.1048T>A (p.Leu350Met) | 113278 | SLC52A3 | Pathogenic | 76947760 | RCV000191969; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744167 | 744167 | NM_033409.3:c.1048T>A | NP_212134.3:p.Leu350Met | NC_000020.10:g.744167A>T | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.989G>T (p.Gly330Val) | 113278 | SLC52A3 | Pathogenic | 797045196 | RCV000191968; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744226 | 744226 | NM_033409.3:c.989G>T | NP_212134.3:p.Gly330Val | NC_000020.10:g.744226C>A | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.955C>T (p.Pro319Ser) | 113278 | SLC52A3 | Pathogenic | 797045195 | RCV000191967; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744260 | 744260 | NM_033409.3:c.955C>T | NP_212134.3:p.Pro319Ser | NC_000020.10:g.744260G>A | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.935C>T (p.Ala312Val) | 113278 | SLC52A3 | Pathogenic | 752218005 | RCV000191966; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744280 | 744280 | NM_033409.3:c.935C>T | NP_212134.3:p.Ala312Val | NC_000020.10:g.744280G>A | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.796C>T (p.Arg266Trp) | 113278 | SLC52A3 | Pathogenic | 370499474 | RCV000191965; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744419 | 744419 | NM_033409.3:c.796C>T | NP_212134.3:p.Arg266Trp | NC_000020.10:g.744419G>A | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.671T>G (p.Phe224Cys) | 113278 | SLC52A3 | Pathogenic | 797045197 | RCV000191978; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744544 | 744544 | NM_033409.3:c.671T>G | NP_212134.3:p.Phe224Cys | NC_000020.10:g.744544A>C | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.670T>C (p.Phe224Leu) | 113278 | SLC52A3 | Pathogenic | 267606685 | RCV000000165; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744545 | 744545 | NM_033409.3:c.670T>C | NP_212134.3:p.Phe224Leu | NC_000020.10:g.744545A>G | OMIM Allelic Variant:613350.0004 | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.659C>A (p.Pro220His) | 113278 | SLC52A3 | Pathogenic | 797045194 | RCV000191964; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744556 | 744556 | NM_033409.3:c.659C>A | NP_212134.3:p.Pro220His | NC_000020.10:g.744556G>T | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.639C>G (p.Tyr213Ter) | 113278 | SLC52A3 | Pathogenic | 778363575 | RCV000191963; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744576 | 744576 | NM_033409.3:c.639C>G | NP_212134.3:p.Tyr213Ter | NC_000020.10:g.744576G>C | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.634C>T (p.Arg212Cys) | 113278 | SLC52A3 | Pathogenic | 778479139 | RCV000191977; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 744581 | 744581 | NM_033409.3:c.634C>T | NP_212134.3:p.Arg212Cys | NC_000020.10:g.744581G>A | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.403A>G (p.Thr135Ala) | 113278 | SLC52A3 | Pathogenic | 527853872 | RCV000191976; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746016 | 746016 | NM_033409.3:c.403A>G | NP_212134.3:p.Thr135Ala | NC_000020.10:g.746016T>C | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.394C>T (p.Arg132Trp) | 113278 | SLC52A3 | Pathogenic | 267606684 | RCV000000164; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746025 | 746025 | NM_033409.3:c.394C>T | NP_212134.3:p.Arg132Trp | NC_000020.10:g.746025G>A | OMIM Allelic Variant:613350.0003 | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.374C>A (p.Thr125Asn) | 113278 | SLC52A3 | Pathogenic | 767263985 | RCV000191975; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746045 | 746045 | NM_033409.3:c.374C>A | NP_212134.3:p.Thr125Asn | NC_000020.10:g.746045G>T | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.224T>C (p.Ile75Thr) | 113278 | SLC52A3 | Pathogenic | 797045193 | RCV000191961; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746195 | 746195 | NM_033409.3:c.224T>C | NP_212134.3:p.Ile75Thr | NC_000020.10:g.746195A>G | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.211G>T (p.Glu71Ter) | 113278 | SLC52A3 | Pathogenic | 267606683 | RCV000000163; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746208 | 746208 | NM_033409.3:c.211G>T | NP_212134.3:p.Glu71Ter | NC_000020.10:g.746208C>A,NC_000020.10:g.746208C>T | OMIM Allelic Variant:613350.0002 | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.211G>A (p.Glu71Lys) | 113278 | SLC52A3 | Pathogenic | 267606683 | RCV000191960; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746208 | 746208 | NM_033409.3:c.211G>A | NP_212134.3:p.Glu71Lys | NC_000020.10:g.746208C>A,NC_000020.10:g.746208C>T | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.173T>A (p.Val58Asp) | 113278 | SLC52A3 | Pathogenic | 797045192 | RCV000191959; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746246 | 746246 | NM_033409.3:c.173T>A | NP_212134.3:p.Val58Asp | NC_000020.10:g.746246A>T | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.160G>A (p.Gly54Arg) | 113278 | SLC52A3 | Pathogenic | 797045191 | RCV000191958; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746259 | 746259 | NM_033409.3:c.160G>A | NP_212134.3:p.Gly54Arg | NC_000020.10:g.746259C>T | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.106G>A (p.Glu36Lys) | 113278 | SLC52A3 | Pathogenic | 267606686 | RCV000000166; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746313 | 746313 | NM_033409.3:c.106G>A | NP_212134.3:p.Glu36Lys | NC_000020.10:g.746313C>T | OMIM Allelic Variant:613350.0005 | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.82C>A (p.Pro28Thr) | 113278 | SLC52A3 | Pathogenic | 267606688 | RCV000000168; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746337 | 746337 | NM_033409.3:c.82C>A | NP_212134.3:p.Pro28Thr | NC_000020.10:g.746337G>T | OMIM Allelic Variant:613350.0007 | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.62A>G (p.Asn21Ser) | 113278 | SLC52A3 | Pathogenic | 199588390 | RCV000191957; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746357 | 746357 | NM_033409.3:c.62A>G | NP_212134.3:p.Asn21Ser | NC_000020.10:g.746357T>C | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |
NM_033409.3(SLC52A3):c.49T>C (p.Trp17Arg) | 113278 | SLC52A3 | Pathogenic | 797045190 | RCV000191956; | N | MedGen:C0796274,OMIM:211530,ORPHA:97229 | 20 | 746370 | 746370 | NM_033409.3:c.49T>C | NP_212134.3:p.Trp17Arg | NC_000020.10:g.746370A>G | - | C0796274 211530 Brown-Vialetto-Van laere syndrome | | |