| ELN Y150X | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| ELN V165L | insufficiently evaluated not reviewed, f=0.006 | unknown |
| var-GS19701-1100-36-ASM |
| ELN K176X | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| ELN Q253Shift | pathogenic, f=0.017 | dominant | This variant is a single base deletion in exon 15 of ELN (elastin) which predicts a frameshift starting at amino acid 253. Other severe variants in this gene have been reported to cause a congenital heart defect (supravalvular aortic stenosis) and Cutis Laxa; based on these reports, this variant would be predicted to have the same effect.
| var-GS19704-1100-36-ASM |
| ELN G412S | insufficiently evaluated none | unknown |
| |
| ELN G422S | insufficiently evaluated none, f=0.332 | unknown |
(5 web hits) | CGI sample GS00253-DNA_E01_200_37 |
| ELN G427S | insufficiently evaluated none | unknown |
(1 web hit) | |
| ELN Q442X | insufficiently evaluated pathogenic | unknown |
(6 web hits) | |
| ELN G552R | insufficiently evaluated none | unknown |
| |
| ELN G562R | insufficiently evaluated none | unknown |
| |
| ELN G567R | insufficiently evaluated none | unknown |
| |
| ELN R570X | insufficiently evaluated pathogenic | unknown |
(4 web hits) | |
| ELN G581R | uncertain benign, f=0.073 | unknown | Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).
(2 web hits) | hu34D5B9 exome |
| ELN G586R | insufficiently evaluated none | unknown |
| |
| ELN G610S | insufficiently evaluated not reviewed, f=0.003 | unknown |
| var-GS19020-1100-36-ASM |