Table 1.
Sixty-three novel variants in patients with Stargardt disease and their classification. Nucleotide positions and translation correspond to CCDS747.1 and NP_000341.2, respectively.
| Exon/Intron | Variant | Protein Change | Classification |
|---|---|---|---|
| 1 | c.53G>A | p.(Arg18Gln) | likely pathogenic |
| IVS5 | c.570+1_570+8del | p.? | pathogenic |
| 6 | c.686T>C | p.(Leu229Pro) | likely pathogenic |
| IVS7 | c.859−2A>G | p.? | pathogenic |
| 8 | c.902del | p.(Arg301Serfs*15) | pathogenic |
| 8 | c.972_973delinsAT | p.(Cys324 *) | pathogenic |
| 8 | c.978C>A | p.(Tyr326 *) | pathogenic |
| 8 | c.1019A>G | p.(Tyr340Cys) | likely pathogenic |
| 8 | c.1050del | p.(Ile351Leufs*23) | pathogenic |
| IVS8 | c.1099+1G>C | p.? | pathogenic |
| 9 | c.1201A>C | p.(Thr401Pro) | likely pathogenic |
| 10 | c.1252T>C | p.(Phe418Leu) | likely pathogenic |
| 10 | c.1301T>G | p.(Val434Gly) | likely pathogenic |
| 12 | c.1556G>A | p.(Cys519Tyr) | likely pathogenic |
| 12 | c.1648_1659del | p.(Gly550_Phe553del) | likely pathogenic |
| 12 | c.1706A>G | p.(Tyr569Cys) | likely pathogenic |
| 13 | c.1895T>A | p.(Ile632Asn) | likely pathogenic |
| 14 | c.2083G>C | p.(Val695Leu) | likely pathogenic |
| 15 | c.2169_2172dup | p.(Leu725Asnfs*42) | pathogenic |
| 15 | c.2299del | p.(Val767Serfs*20) | pathogenic |
| 16 | c.2443C>T | p.(Gln815 *) | pathogenic |
| 16 | c.2572dup | p.(Asp858Glyfs*27) | pathogenic |
| 19 | c.2868C>A | p.(Asn956Lys) | uncertain |
| 21 | c.3080A>G | p.(Tyr1027Cys) | likely pathogenic |
| 22 | c.3311T>C | p.(Leu1104Pro) | likely pathogenic |
| 23 | c.3409A>G | p.(Arg1137Gly) | uncertain |
| 25 | c.3682G>T | p.(Glu1228 *) | likely pathogenic |
| 25 | c.3811G>C | p.(Glu1271Asp) | likely pathogenic |
| 26 | c.3825G>C | p.(Lys1275Asn) | likely pathogenic |
| 27 | c.3966del | p.(Ala1324Argfs*65) | pathogenic |
| 27 | c.4061A>C | p.(His1354Pro) | likely pathogenic |
| IVS27 | c.4129−3C>A | p.? | likely pathogenic |
| 28 | c.4178_4192del | p.(Val1393_Phe1397del) | likely pathogenic |
| 29 | c.4324A>G | p.(Asn1442Asp) | likely pathogenic |
| 30 | c.4510_4535del | p.(Glu1504Profs*42) | pathogenic |
| 32 | c.4663_4664del | p.(Gln1555Glufs*41) | pathogenic |
| 33 | c.4689del | p.(Gly1564Glufs*17) | pathogenic |
| 33 | c.4696C>T | p.(Leu1566Phe) | likely pathogenic |
| 33 | c.4700C>T | p.(Pro1567Leu) | likely pathogenic |
| 34 | c.4775G>A | p.(Gly1592Asp) | likely pathogenic |
| 37 | c.5282C>G | p.(Pro1761Arg) | likely pathogenic |
| 38 | c.5332A>T | p.(Met1778Leu) | likely pathogenic |
| 38 | c.5342C>A | p.(Ala1781Glu) | likely pathogenic |
| 38 | c.5351T>C | p.(Leu1784Pro) | likely pathogenic |
| 38 | c.5384T>C | p.(Leu1795Ser) | likely pathogenic |
| 40 | c.5621T>C | p.(Leu1874Pro) | likely pathogenic |
| IVS42 | c.5898+2T>C | p.? | pathogenic |
| IVS42 | c.5899−3T>C | p.? | uncertain |
| 43 | c.5939C>T | p.(Thr1980Ile) | likely pathogenic |
| IVS43 | c.6005+1del | p.? | pathogenic |
| 44 | c.6110C>A | p.(Ala2037Asp) | likely pathogenic |
| 45 | c.6181_6184del | p.(Thr2061Serfs*53) | pathogenic |
| 45 | c.6191C>T | p.(Ala2064Val) | likely pathogenic |
| 45 | c.6250G>A | p.(Ala2084Thr) | likely pathogenic |
| 46 | c.6284A>G | p.(Asp2095Gly) | likely pathogenic |
| 47 | c.6394G>T | p.(Glu2132 *) | pathogenic |
| 47 | c.6454G>A | p.(Gly2152Ser) | likely pathogenic |
| 47 | c.6455G>T | p.(Gly2152Val) | likely pathogenic |
| 47 | c.6436_6437insT | p.(Gly2146Valfs*36) | pathogenic |
| 48 | c.6693del | p.(Ile2231Metfs*16) | pathogenic |
| 48 | c.6704C>G | p.(Ser2235 *) | pathogenic |
| 49 | c.6746C>A | p.(Ala2249Asp) | likely pathogenic |
| IVS49 | c.6816+1G>T | p.? | pathogenic |
p.?: Protein has not been analysed, an effect is expected but difficult to predict.