Variants of ABCA4 located in non-coding regions
| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| c.67-2A>G | intron 1 | D | Pathogenic | ClinVar |
| c.160+1G>A | intron 2 | ? | not provided | ClinVar |
| c.161-45G>T | intron 2 | ? | not provided | ClinVar |
| c.302+1G>A | intron 3 | ? | not provided | ClinVar |
| c.302+20C>T | intron 3 | ? | not provided | ClinVar |
| c.302+26A>G | intron 3 | ? | not provided | ClinVar |
| c.570+20C>T | intron 5 | N | Benign | ClinVar |
| c.571-29G>T | intron 5 | ? | not provided | ClinVar |
| c.571-2A>G | intron 5 | ? | not provided | ClinVar |
| c.571-1G>T | intron 5 | ? | not provided | ClinVar |
| c.769-32T>C | intron 6 | ? | not provided | ClinVar |
| c.769-5T>G | intron 6 | ? | not provided | ClinVar |
| c.769-1G>T | intron 6 | ? | not provided | ClinVar |
| c.859-11C>T | intron 7 | ? | not provided | ClinVar |
| c.1100-14T>C | intron 8 | ? | not provided | ClinVar |
| c.1240-14C>T | intron 9 | N | Benign | ClinVar |
| c.1356+6G>C | intron 10 | ? | not provided | ClinVar |
| c.1554+1G>A | intron 11 | ? | not provided | ClinVar |
| c.1555-1G>A | intron 11 | ? | not provided | ClinVar |
| c.1760+2T>G | intron 12 | D | Pathogenic | ClinVar |
| c.1760+22G>T | intron 12 | ? | not provided | ClinVar |
| c.1761-54G>A | intron 12 | ? | not provided | ClinVar |
| c.1761-50G>A | intron 12 | ? | not provided | ClinVar |
| c.1761-37G>A | intron 12 | ? | not provided | ClinVar |
| c.1937+1G>A | intron 13 | ? | not provided | ClinVar |
| c.1937+2T>C | intron 13 | ? | not provided | ClinVar |
| c.1938-1G>A | intron 13 | ? | not provided | ClinVar |
| c.2160+1G>C | intron 14 | ? | not provided | ClinVar |
| c.2383-10C>G | intron 15 | ? | not provided | ClinVar |
| c.2587+1G>A | intron 16 | ? | not provided | ClinVar |
| c.2588-12C>G | intron 16 | N | Benign | ClinVar |
| c.2653+60G>C | intron 17 | ? | not provided | ClinVar |
| c.2654-48G>C | intron 17 | ? | not provided | ClinVar |
| c.2654-21A>T | intron 17 | ? | not provided | ClinVar |
| c.3050+5G>A | intron 20 | ? | not provided | ClinVar |
| c.3051-14T>A | intron 20 | ? | not provided | ClinVar |
| c.3190+1G>T | intron 21 | ? | not provided | ClinVar |
| c.3190+83A>T | intron 21 | ? | not provided | ClinVar |
| c.3191-20C>T | intron 21 | ? | not provided | ClinVar |
| c.3191-2A>G | intron 21 | ? | not provided | ClinVar |
| c.3329-34A>G | intron 22 | ? | not provided | ClinVar |
| c.3523-28T>C | intron 23 | ? | not provided | ClinVar |
| c.3523-12C>T | intron 23 | ? | not provided | ClinVar |
| c.3523-9C>G | intron 23 | N | Benign | ClinVar |
| c.3607+1G>A | intron 24 | ? | not provided | ClinVar |
| c.3607+32G>A | intron 24 | ? | not provided | ClinVar |
| c.3608-16T>A | intron 24 | ? | not provided | ClinVar |
| c.3862+1G>A | intron 26 | ? | not provided | ClinVar |
| c.4129-71A>T | intron 27 | ? | not provided | ClinVar |
| c.4129-35A>T | intron 27 | ? | not provided | ClinVar |
| c.4253+1G>T | intron 28 | ? | not provided | ClinVar |
| c.4253+4C>T | intron 28 | ? | not provided | ClinVar |
| c.4253+5G>T | intron 28 | ? | not provided | ClinVar |
| c.4253+43G>A | intron 28 | ? | not provided | ClinVar |
| c.4254-47T>C | intron 28 | ? | not provided | ClinVar |
| c.4254-38G>A | intron 28 | ? | not provided | ClinVar |
| c.4254-2A>G | intron 28 | ? | not provided | ClinVar |
| c.4352+13G>A | intron 29 | ? | not provided | ClinVar |
| c.4353-1G>T | intron 29 | ? | not provided | ClinVar |
| c.4539+1G>T | intron 30 | ? | not provided | ClinVar |
| c.4539+3A>G | intron 30 | ? | not provided | ClinVar |
| c.4539+35G>C | intron 30 | ? | not provided | ClinVar |
| c.4539+40C>T | intron 30 | ? | not provided | ClinVar |
| c.4540-2A>G | intron 30 | D | Pathogenic | ClinVar |
| c.4667+2T>C | intron 32 | ? | not provided | ClinVar |
| c.4668-38C>T | intron 32 | ? | not provided | ClinVar |
| c.4668-15C>T | intron 32 | N | Benign | ClinVar |
| c.4773+1G>T | intron 33 | ? | not provided | ClinVar |
| c.4773+2T>C | intron 33 | ? | not provided | ClinVar |
| c.4773+48C>T | intron 33 | ? | not provided | ClinVar |
| c.4774-2A>C | intron 33 | ? | not provided | ClinVar |
| c.4849-1G>C | intron 34 | ? | not provided | ClinVar |
| c.5018+2T>A | intron 35 | ? | not provided | ClinVar |
| c.5018+2T>C | intron 35 | ? | not provided | ClinVar |
| c.5018+8A>G | intron 35 | N | Benign | ClinVar |
| c.5019-32G>A | intron 35 | ? | not provided | ClinVar |
| c.5196+1G>A | intron 36 | ? | not provided | ClinVar |
| c.5196+2T>C | intron 36 | ? | not provided | ClinVar |
| c.5196+2T>G | intron 36 | ? | not provided | ClinVar |
| c.5196+20G>A | intron 36 | ? | not provided | ClinVar |
| c.5312+8G>A | intron 37 | ? | Uncertain significance | ClinVar |
| c.5312+45G>T | intron 37 | ? | not provided | ClinVar |
| c.5460+1G>A | intron 38 | ? | not provided | ClinVar |
| c.5461-10T>C | intron 38 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| c.5584+5G>A | intron 39 | ? | not provided | ClinVar |
| c.5584+6T>C | intron 39 | ? | not provided | ClinVar |
| c.5585-70C>T | intron 39 | ? | not provided | ClinVar |
| c.5585-17T>A | intron 39 | ? | not provided | ClinVar |
| c.5585-10T>C | intron 39 | ? | not provided | ClinVar |
| c.5585-1G>A | intron 39 | ? | not provided | ClinVar |
| c.5714+5G>A | intron 40 | ? | not provided | ClinVar |
| c.5715-25A>C | intron 40 | ? | not provided | ClinVar |
| c.5836-40C>A | intron 41 | ? | not provided | ClinVar |
| c.5836-11G>A | intron 41 | N | Benign | ClinVar |
| c.5898+1G>T | intron 42 | ? | not provided | ClinVar |
| c.6005+1G>T | intron 43 | ? | not provided | ClinVar |
| c.6006-16G>A | intron 43 | N | Benign | ClinVar |
| c.6282+7G>A | intron 45 | N | Benign/Likely benign, not provided | ClinVar |
| c.6386+2C>G | intron 46 | ? | not provided | ClinVar |
| c.6729+1G>A | intron 48 | ? | not provided | ClinVar |
| c.6729+21C>T | intron 48 | ? | not provided | ClinVar |
| c.6730-27C>G | intron 48 | ? | not provided | ClinVar |
| c.6730-3T>C | intron 48 | N | Benign | ClinVar |