Variants
FBN1 variants
The 509 FBN1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.1A>C | Exon 2 | 48,644,769 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.989-1G>C | Intron 9 | 48,520,818 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4583-5A>G | Intron 37 | 48,468,107 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5065+2_5065+3insT | Intron 41 | 48,463,896 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6453C>T | Exon 53 | 48,437,004 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7204+1G>T | Intron 58 | 48,427,566 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.7330+3_7330+6del | Intron 59 | 48,425,732 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C67R | c.199T>C | Exon 3 | 48,613,058 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C210Y | c.629G>A | Exon 7 | 48,537,718 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C304Y | c.911G>A | Exon 9 | 48,526,207 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C358Y | c.1073G>A | Exon 10 | 48,520,733 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C460Y | c.1379G>A | Exon 12 | 48,515,476 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C494S | c.1481G>C | Exon 13 | 48,513,656 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C513F | c.1538G>T | Exon 13 | 48,513,599 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C570R | c.1708T>C | Exon 14 | 48,510,050 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C617Y | c.1850G>A | Exon 16 | 48,505,135 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C763G | c.2287T>G | Exon 19 | 48,497,272 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C763R | c.2287T>C | Exon 19 | 48,497,272 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C875Y | c.2624G>A | Exon 22 | 48,495,176 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C887Y | c.2660G>A | Exon 22 | 48,495,140 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C890Y | c.2669G>A | Exon 22 | 48,495,131 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1097Y | c.3290G>A | Exon 27 | 48,488,160 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1153R | c.3457T>C | Exon 28 | 48,487,318 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1159Y | c.3476G>A | Exon 29 | 48,487,188 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1201X | c.3603C>A | Exon 30 | 48,485,483 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1236Y | c.3707G>A | Exon 30 | 48,485,379 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1361R | c.4081T>C | Exon 33 | 48,474,534 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1444S | c.4330T>A | Exon 35 | 48,472,557 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1470dup | c.4407_4409dup | Exon 36 | 48,470,683 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1470Y | c.4409G>A | Exon 36 | 48,470,684 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1472R | c.4414T>C | Exon 36 | 48,470,679 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1853Y | c.5558G>A | Exon 46 | 48,448,881 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1916Y | c.5747G>A | Exon 47 | 48,446,747 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1942X | c.5826C>A | Exon 48 | 48,445,467 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C1989F | c.5966G>T | Exon 49 | 48,444,612 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2011Y | c.6032G>A | Exon 49 | 48,444,546 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2085Y | c.6254G>A | Exon 51 | 48,437,827 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2137Y | c.6410G>A | Exon 53 | 48,437,047 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2164Y | c.6491G>A | Exon 53 | 48,436,966 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2181R | c.6541T>C | Exon 54 | 48,434,669 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2221Y | c.6662G>A | Exon 55 | 48,432,943 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2274R | c.6820T>C | Exon 56 | 48,430,722 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2289S | c.6866G>C | Exon 56 | 48,430,676 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2339Y | c.7016G>A | Exon 58 | 48,427,755 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2390Sfs*15 | c.7167_7168del | Exon 58 | 48,427,602 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2470F | c.7409G>T | Exon 60 | 48,425,413 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2550S | c.7648T>A | Exon 62 | 48,421,609 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2592F | c.7775G>T | Exon 63 | 48,420,731 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2631Y | c.7892G>A | Exon 64 | 48,415,695 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D490Y | c.1468G>T | Exon 12 | 48,515,387 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1197N | c.3589G>A | Exon 29 | 48,487,075 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1238N | c.3712G>A | Exon 30 | 48,485,374 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1487N | c.4459G>A | Exon 36 | 48,470,634 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E383K | c.1147G>A | Exon 10 | 48,520,659 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E2169X | c.6505G>T | Exon 54 | 48,434,705 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E2417_N2420del | c.7251_7262del | Exon 59 | 48,425,806 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1211del | c.3632_3634del | Exon 30 | 48,485,451 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F1912del | c.5734_5736del | Exon 47 | 48,446,757 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G267Lfs*61 | c.799_805del | Exon 8 | 48,534,136 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G544R | c.1630G>A | Exon 14 | 48,510,128 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1185D | c.3554G>A | Exon 29 | 48,487,110 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1217D | c.3650G>A | Exon 30 | 48,485,436 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1567Vfs*14 | c.4700del | Exon 38 | 48,467,984 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2514R | c.7540G>A | Exon 61 | 48,421,982 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2514X | c.7540G>T | Exon 61 | 48,421,982 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2668C | c.8002G>T | Exon 64 | 48,415,585 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2684Vfs*21 | c.8051delinsTT | Exon 64 | 48,415,536 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I2806Nfs*28 | c.8416dup | Exon 66 | 48,411,189 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M1384_G1385del | c.4149_4154del | Exon 34 | 48,474,310 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N2461Kfs*221 | c.7383del | Exon 60 | 48,425,438 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N2526S | c.7577A>G | Exon 62 | 48,421,680 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1419X | c.4255C>T | Exon 35 | 48,472,632 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q2830X | c.8488C>T | Exon 66 | 48,411,118 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R344C | c.1030C>T | Exon 10 | 48,520,776 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R464C | c.1390C>T | Exon 12 | 48,515,465 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R485C | c.1453C>T | Exon 12 | 48,515,402 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1692del | c.5076_5078del | Exon 42 | 48,463,227 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1840C | c.5518C>T | Exon 45 | 48,452,589 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1915C | c.5743C>T | Exon 47 | 48,446,751 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2150C | c.6448C>T | Exon 53 | 48,437,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2335W | c.7003C>T | Exon 58 | 48,427,768 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2576C | c.7726C>T | Exon 63 | 48,420,780 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2694X | c.8080C>T | Exon 65 | 48,412,715 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2776X | c.8326C>T | Exon 66 | 48,411,280 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S113C | c.338C>G | Exon 4 | 48,610,736 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T679Afs*33 | c.2034_2052del | Exon 17 | 48,503,847 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V789Cfs*13 | c.2364dup | Exon 20 | 48,496,154 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y519C | c.1556A>G | Exon 13 | 48,513,581 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y1186C | c.3557A>G | Exon 29 | 48,487,107 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y1427C | c.4280A>G | Exon 35 | 48,472,607 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y1509C | c.4526A>G | Exon 37 | 48,468,468 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y1962C | c.5885A>G | Exon 48 | 48,445,408 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y2149C | c.6446A>G | Exon 53 | 48,437,011 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y2793C | c.8378A>G | Exon 66 | 48,411,228 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A882V | c.2645C>T | Exon 22 | 48,495,155 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A986Qfs*13 | c.2956del | Exon 25 | 48,489,976 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1728V | c.5183C>T | Exon 42 | 48,463,123 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.3G>A | Exon 2 | 48,644,767 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.164+1del | Intron 2 | 48,644,604 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.164+1G>A | Intron 2 | 48,644,605 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |