| Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu) | 10516 | FBLN5 | Pathogenic | 121434303 | RCV000005817; | N | MedGen:C1837187,OMIM:608895 | 14 | 92336680 | 92336680 | NM_006329.3:c.1235G>A | NP_006320.2:p.Gly412Glu | NC_000014.8:g.92336680C>T | OMIM Allelic Variant:604580.0009 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) | 10516 | FBLN5 | Pathogenic | 864309526 | RCV000202609; | N | MedGen:C1837187,OMIM:608895 | 14 | 92343899 | 92343899 | NM_006329.3:c.1117C>T | NP_006320.2:p.Arg373Cys | NC_000014.8:g.92343899G>A | OMIM Allelic Variant:604580.0012 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr) | 10516 | FBLN5 | Pathogenic | 121434302 | RCV000005816; | N | MedGen:C1837187,OMIM:608895 | 14 | 92343929 | 92343929 | NM_006329.3:c.1087G>A | NP_006320.2:p.Ala363Thr | NC_000014.8:g.92343929C>T | OMIM Allelic Variant:604580.0008 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) | 10516 | FBLN5 | Pathogenic | 28939073 | RCV000005815; | N | MedGen:C1837187,OMIM:608895 | 14 | 92343965 | 92343965 | NM_006329.3:c.1051C>T | NP_006320.2:p.Arg351Trp | NC_000014.8:g.92343965G>A | OMIM Allelic Variant:604580.0007 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr) | 10516 | FBLN5 | Pathogenic | 28939072 | RCV000005814; | N | MedGen:C1837187,OMIM:608895 | 14 | 92357678 | 92357678 | NM_006329.3:c.506T>C | NP_006320.2:p.Ile169Thr | NC_000014.8:g.92357678A>G | OMIM Allelic Variant:604580.0006 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.376G>A (p.Val126Met) | 10516 | FBLN5 | Pathogenic | 61734479 | RCV000202603; | N | MedGen:C1837187,OMIM:608895 | 14 | 92403294 | 92403294 | NM_006329.3:c.376G>A | NP_006320.2:p.Val126Met | NC_000014.8:g.92403294C>T | OMIM Allelic Variant:604580.0014 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) | 10516 | FBLN5 | Pathogenic | 144288844 | RCV000202614; | N | MedGen:C1837187,OMIM:608895 | 14 | 92403402 | 92403402 | NM_006329.3:c.268G>A | NP_006320.2:p.Gly90Ser | NC_000014.8:g.92403402C>T | OMIM Allelic Variant:604580.0013 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser) | 10516 | FBLN5 | Pathogenic | 121434301 | RCV000005813; | N | MedGen:C1837187,OMIM:608895 | 14 | 92403411 | 92403411 | NM_006329.3:c.259C>T | NP_006320.2:p.Pro87Ser | NC_000014.8:g.92403411G>A | OMIM Allelic Variant:604580.0005 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln) | 10516 | FBLN5 | Pathogenic | 121434300 | RCV000005812; | N | MedGen:C1837187,OMIM:608895 | 14 | 92403458 | 92403458 | NM_006329.3:c.212G>A | NP_006320.2:p.Arg71Gln | NC_000014.8:g.92403458C>T | OMIM Allelic Variant:604580.0004 | C1837187 608895 Age-related macular degeneration 3 | | |
| NM_006329.3(FBLN5):c.178G>C (p.Val60Leu) | 10516 | FBLN5 | Pathogenic | 121434299 | RCV000005811; | N | MedGen:C1837187,OMIM:608895 | 14 | 92403492 | 92403492 | NM_006329.3:c.178G>C | NP_006320.2:p.Val60Leu | NC_000014.8:g.92403492C>G | OMIM Allelic Variant:604580.0003 | C1837187 608895 Age-related macular degeneration 3 | | |
Macular Degeneration, Age-Related, 3 
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