single nucleotide variant | NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) | WFS1 | Pathogenic | 4 | 6303576 | 6303576 | G | C | criteria provided, single submitter | ClinGen:CA261750,UniProtKB:O76024#VAR_074212 |
single nucleotide variant | NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) | WFS1 | Pathogenic | 4 | 6303573 | 6303573 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA129328,UniProtKB:O76024#VAR_011310,OMIM:606201.0028 |
single nucleotide variant | NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) | WFS1 | Pathogenic/Likely pathogenic | 4 | 6304112 | 6304112 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA116903,UniProtKB:O76024#VAR_032969,OMIM:606201.0020 |
single nucleotide variant | NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) | WFS1 | Pathogenic/Likely pathogenic | 4 | 6304008 | 6304008 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA253199,UniProtKB:O76024#VAR_032967,OMIM:606201.0015 |
single nucleotide variant | NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) | WFS1 | Pathogenic/Likely pathogenic | 4 | 6303668 | 6303668 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA253197,UniProtKB:O76024#VAR_032965,OMIM:606201.0014 |
Duplication | NM_006005.3(WFS1):c.409_424dup (p.Val142fs) | WFS1 | Pathogenic/Likely pathogenic | 4 | 6290805 | 6290806 | A | AGGGCCGTCGCGAGGCT | criteria provided, multiple submitters, no conflicts | ClinGen:CA253196,OMIM:606201.0013 |
single nucleotide variant | NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) | WFS1 | Pathogenic | 4 | 6293688 | 6293688 | C | T | criteria provided, single submitter | ClinGen:CA253192,OMIM:606201.0010 |
single nucleotide variant | NM_006005.3(WFS1):c.460+1G>A | WFS1 | Pathogenic | 4 | 6290859 | 6290859 | G | A | criteria provided, single submitter | OMIM:606201.0009 |
Deletion | NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) | WFS1 | Likely pathogenic | 4 | 6302902 | 6302910 | CCACCGAGGT | C | criteria provided, single submitter | OMIM:606201.0008 |
single nucleotide variant | NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) | WFS1 | Pathogenic/Likely pathogenic | 4 | 6303033 | 6303033 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA253190,UniProtKB:O76024#VAR_005842,OMIM:606201.0006 |