Variants
ABCA4 variants
The 107 ABCA4 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 |
|---|---|---|---|---|---|
| A960Dfs*17 | c.2879del | Exon 19 | 94,046,957 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A967V | c.2900C>T | Exon 19 | 94,046,937 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1773V | c.5318C>T | Exon 38 | 94,014,685 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1791Gfs*9 | c.5371dup | Exon 38 | 94,014,631 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>G | Exon 1 | 94,121,045 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>T | Exon 1 | 94,121,043 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1937+1G>A | Intron 13 | 94,062,576 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3328+2T>A | Intron 22 | 94,042,759 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3523-1G>A | Intron 23 | 94,040,128 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4253+43G>A | Intron 28 | 94,030,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4254-1G>C | Intron 28 | 94,030,527 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4352+1G>A | Intron 29 | 94,030,427 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.4773+3A>G | Intron 33 | 94,021,843 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5018+2T>A | Intron 35 | 94,021,238 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5018+2T>C | Intron 35 | 94,021,238 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5196+1137G>A | Intron 36 | 94,018,445 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5460+1G>A | Intron 38 | 94,014,542 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5461-10T>C | Intron 38 | 94,011,395 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5714+5G>A | Intron 40 | 94,010,795 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C1490Y | c.4469G>A | Exon 30 | 94,029,515 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2133R | c.6397T>C | Exon 47 | 94,000,918 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2137Y | c.6410G>A | Exon 47 | 94,000,905 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C2150Y | c.6449G>A | Exon 47 | 94,000,866 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D279Ifs*21 | c.834del | Exon 7 | 94,083,375 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D507Y | c.1519G>T | Exon 11 | 94,077,725 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1918G | c.5753A>G | Exon 41 | 94,008,833 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D1918V | c.5753A>T | Exon 41 | 94,008,833 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E830X | c.2488G>T | Exon 16 | 94,055,210 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1399X | c.4195G>T | Exon 28 | 94,031,054 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1452X | c.4354G>T | Exon 30 | 94,029,630 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1574X | c.4720G>T | Exon 33 | 94,021,899 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E2031K | c.6091G>A | Exon 44 | 94,005,497 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G607R | c.1819G>A | Exon 13 | 94,062,695 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G818E | c.2453G>A | Exon 16 | 94,055,245 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G963Afs*14 | c.2888del | Exon 19 | 94,046,948 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1862R | c.5584G>C | Exon 39 | 94,011,262 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1862S | c.5584G>A | Exon 39 | 94,011,262 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1886E | c.5657G>A | Exon 40 | 94,010,857 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1961E | c.5882G>A | Exon 42 | 94,008,251 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2041S | c.6121G>A | Exon 44 | 94,005,467 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H2128R | c.6383A>G | Exon 46 | 94,001,005 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1033Sfs*51 | c.3098del | Exon 21 | 94,043,427 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K1536X | c.4605_4606insT | Exon 31 | 94,024,982 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K2056X | c.6166A>T | Exon 45 | 94,001,974 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L11P | c.32T>C | Exon 1 | 94,121,014 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L210Q | c.629T>A | Exon 6 | 94,098,933 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L296Cfs*4 | c.885del | Exon 8 | 94,080,691 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1070Rfs*15 | c.3208_3209insGT | Exon 22 | 94,042,880 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1138P | c.3413T>C | Exon 23 | 94,041,318 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1159S | c.3476T>C | Exon 23 | 94,041,255 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L1741Hfs*42 | c.5222_5232del | Exon 37 | 94,015,818 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2241P | c.6722T>C | Exon 48 | 93,997,868 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N965S | c.2894A>G | Exon 19 | 94,046,943 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N1632Kfs*14 | c.4895dup | Exon 35 | 94,021,362 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P68L | c.203C>T | Exon 3 | 94,111,537 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P1380L | c.4139C>T | Exon 28 | 94,031,110 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P1486L | c.4457C>T | Exon 30 | 94,029,527 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P1511H | c.4532C>A | Exon 30 | 94,029,452 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P2097S | c.6289C>T | Exon 46 | 94,001,099 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q635X | c.1903C>T | Exon 13 | 94,062,611 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1003X | c.3007C>T | Exon 20 | 94,044,656 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1315X | c.3943C>T | Exon 27 | 94,031,963 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1332X | c.3994C>T | Exon 27 | 94,031,912 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1513Pfs*42 | c.4537dup | Exon 30 | 94,029,446 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1852X | c.5554C>T | Exon 39 | 94,011,292 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q1926X | c.5776C>T | Exon 41 | 94,008,810 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q2190X | c.6568C>T | Exon 48 | 93,998,022 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q2220X | c.6658C>T | Exon 48 | 93,997,932 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R152X | c.454C>T | Exon 5 | 94,103,131 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R212C | c.634C>T | Exon 6 | 94,098,928 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R408X | c.1222C>T | Exon 9 | 94,079,339 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R511C | c.1531C>T | Exon 11 | 94,077,713 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R572P | c.1715G>C | Exon 12 | 94,063,157 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R572Q | c.1715G>A | Exon 12 | 94,063,157 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R602W | c.1804C>T | Exon 13 | 94,062,710 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R653C | c.1957C>T | Exon 14 | 94,060,740 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R681X | c.2041C>T | Exon 14 | 94,060,656 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1108C | c.3322C>T | Exon 22 | 94,042,767 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1108H | c.3323G>A | Exon 22 | 94,042,766 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1129L | c.3386G>T | Exon 23 | 94,041,345 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2030Q | c.6089G>A | Exon 44 | 94,005,499 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2038Q | c.6113G>A | Exon 44 | 94,005,475 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2038W | c.6112C>T | Exon 44 | 94,005,476 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2077W | c.6229C>T | Exon 45 | 94,001,911 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2107C | c.6319C>T | Exon 46 | 94,001,069 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2107H | c.6320G>A | Exon 46 | 94,001,068 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2139P | c.6416G>C | Exon 47 | 94,000,899 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2139Q | c.6416G>A | Exon 47 | 94,000,899 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2139W | c.6415C>T | Exon 47 | 94,000,900 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2149X | c.6445C>T | Exon 47 | 94,000,870 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2201Afs*49 | c.6601_6602del | Exon 48 | 93,997,987 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1071Cfs*14 | c.3210_3211dup | Exon 22 | 94,042,877 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1642Cfs*19 | c.4924_4927del | Exon 35 | 94,021,330 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1019M | c.3056C>T | Exon 21 | 94,043,470 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1519Rfs*7 | c.4555del | Exon 31 | 94,025,032 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1526M | c.4577C>T | Exon 31 | 94,025,011 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T1537Nfs*18 | c.4604dup | Exon 31 | 94,024,983 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V1973X | c.5917del | Exon 43 | 94,007,721 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W15X | c.45G>A | Exon 1 | 94,121,001 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W782X | c.2345G>A | Exon 15 | 94,056,638 | Pathogenic | 3 stars out of 4 reviewed by expert panel |