Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) | 7466 | WFS1 | Pathogenic | 71530923 | RCV000169684; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6279306 | 6279306 | NM_006005.3:c.124C>T | NP_005996.2:p.Arg42Ter | NC_000004.11:g.6279306C>T | - | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.409_424dup16 (p.Val142Glyfs) | 7466 | WFS1 | Pathogenic | 587776598 | RCV000004777; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6290807 | 6290822 | NM_006005.3:c.409_424dup16 | NP_005996.2:p.Val142Glyfs | | OMIM Allelic Variant:606201.0013 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) | 7466 | WFS1 | Pathogenic | 104893880 | RCV000004774; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6293688 | 6293688 | NM_006005.3:c.676C>T | NP_005996.2:p.Gln226Ter | NC_000004.11:g.6293688C>T | OMIM Allelic Variant:606201.0010 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.1060_1062delTTC (p.Phe354del) | 7466 | WFS1 | Pathogenic | -1 | RCV000215662; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6302582 | 6302584 | NM_006005.3:c.1060_1062delTTC | NP_005996.2:p.Phe354del | | - | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.1441_1447dupCTGAAGG (p.Val483Alafs) | 7466 | WFS1 | Pathogenic | 727503745 | RCV000152660; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6302963 | 6302969 | NM_006005.3:c.1441_1447dupCTGAAGG | NP_005996.2:p.Val483Alafs | NC_000004.11:g.6302963_6302969dupCTGAAGG | - | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) | 7466 | WFS1 | Pathogenic | 28937892 | RCV000004770; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6303033 | 6303033 | NM_006005.3:c.1511C>T | NP_005996.2:p.Pro504Leu | NC_000004.11:g.6303033C>T | OMIM Allelic Variant:606201.0006 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) | 7466 | WFS1 | Likely pathogenic | 199946797 | RCV000180290; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6303194 | 6303194 | NM_006005.3:c.1672C>T | NP_005996.2:p.Arg558Cys | NC_000004.11:g.6303194C>T | - | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) | 7466 | WFS1 | Pathogenic | 104893879 | RCV000004769; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6303466 | 6303466 | NM_006005.3:c.1944G>A | NP_005996.2:p.Trp648Ter | NC_000004.11:g.6303466G>A | OMIM Allelic Variant:606201.0005 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) | 7466 | WFS1 | Pathogenic | 387906930 | RCV000023515; RCV000023514; RCV000200668; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009; MedGen:C1857286,OMIM:614296; MedGen:CN221809 | 4 | 6303573 | 6303573 | NM_006005.3:c.2051C>T | NP_005996.2:p.Ala684Val | NC_000004.11:g.6303573C>T | OMIM Allelic Variant:606201.0028 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness; CN221809 not provided; C1857286 614296 Wolfram-like syndrome, autosomal dominant | | |
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) | 7466 | WFS1 | Pathogenic | 28937891 | RCV000004768; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6303606 | 6303606 | NM_006005.3:c.2084G>T | NP_005996.2:p.Gly695Val | NC_000004.11:g.6303606G>T | OMIM Allelic Variant:606201.0004 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.2119G>T (p.Val707Phe) | 7466 | WFS1 | Pathogenic | 71524377 | RCV000023510; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6303641 | 6303641 | NM_006005.3:c.2119G>T | NP_005996.2:p.Val707Phe | NC_000004.11:g.6303641G>A,NC_000004.11:g.6303641G>T | OMIM Allelic Variant:606201.0024 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) | 7466 | WFS1 | Likely pathogenic;Pathogenic | 28937893 | RCV000152686; RCV000004778; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009; MedGen:C1833021,OMIM:600965 | 4 | 6303668 | 6303668 | NM_006005.3:c.2146G>A | NP_005996.2:p.Ala716Thr | NC_000004.11:g.6303668G>A | OMIM Allelic Variant:606201.0014 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness; C1833021 600965 WFS1-Related Disorders | | |
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) | 7466 | WFS1 | Pathogenic | 28937890 | RCV000004767; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6303693 | 6303693 | NM_006005.3:c.2171C>T | NP_005996.2:p.Pro724Leu | NC_000004.11:g.6303693C>T | OMIM Allelic Variant:606201.0003 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) | 7466 | WFS1 | Likely pathogenic | 797045075 | RCV000191145; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6303785 | 6303785 | NM_006005.3:c.2263T>C | NP_005996.2:p.Cys755Arg | NC_000004.11:g.6303785T>C | - | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) | 7466 | WFS1 | Pathogenic | 104893881 | RCV000004775; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009 | 4 | 6303977 | 6303977 | NM_006005.3:c.2455C>T | NP_005996.2:p.Gln819Ter | NC_000004.11:g.6303977C>T | OMIM Allelic Variant:606201.0011 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness | | |
NM_006005.3(WFS1):c.2648_2651delTCTT (p.Phe883Serfs) | 7466 | WFS1 | Pathogenic | 797045076 | RCV000191146; RCV000200365; | N | MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009; MedGen:CN221809 | 4 | 6304169 | 6304173 | NM_006005.3:c.2648_2651delTCTT | NP_005996.2:p.Phe883Serfs | NC_000004.11:g.6304170_6304173delTCTT | OMIM Allelic Variant:606201.0012 | C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness; CN221809 not provided | | |