Table 3 List of the 43 new variants identified in this study.
From: Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
Disease | Gene | Transmission | RefSeq | Exon/Intron | Nucleotide change | Amino acid change | Allele state | dbSNP rs | VarSome |
|---|---|---|---|---|---|---|---|---|---|
CD | ABCA4 | Aut. Recessive | NM_000350 | ex1-5 | c.1-?_571-?del | p.(?) | HET | NA | P |
CD | ABCA4 | Aut. Recessive | NM_000350 | ex8 | c.1085_1086del | p.(Tyr362*) | HET | NA | P |
CD | ABCA4 | Aut. Recessive | NM_000350 | ex17 | c.2624 T > C | p.(Leu875Pro) | HET | NA | VUS/LP |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex19 | c.2780C > T | p.(Pro927Leu) | HET | NA | VUS/LP |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex19 | c.2875A > G | p.(Thr959Ala) | HET | rs368846708 | LP |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex21 | c.3167A > T | p.(Asn1056Ile) | HET | NA | LP |
CRD | ABCA4 | Aut. Recessive | NM_000350 | ex23 | c.(3192-90_3418)_(3418_3562)dup | p.(?) | HET | NA | P |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex22 | c.3289A > G | p.(Arg1097Gly) | HET | NA | LP |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex27 | c.3999_4000insACCCCAGAGCCAGAGTGCCAGCCT | p.(Pro1333_Pro1334insThrProGluProGluCysGlnPro) | HET | NA | LP |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex27 | c.4085G > T | p.(Arg1362Ile) | HET | NA | VUS/LP |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex28 | c.4217del | p.(His1406Profs*29) | HET | NA | P |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex33 | c.4734_4739delinsCC | p.(Phe1579Glnfs*8) | HET | NA | P |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex38 | c.5384 T > G | p.(Leu1795*) | HET | NA | P |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex43 | c.5910_5912dup | p.(Leu1971dup) | HET | NA | LP |
MD + CD | ABCA4 | Aut. Recessive | NM_000350 | ex43 | c.5959_5964delinsTG | p.(Gly1987*) | HET | NA | P |
CD | ABCA4 | Aut. Recessive | NM_000350 | ex43 | c.5959G > T | p.(Gly1987Tpr) | HET | NA | LP |
MD | ABCA4 | Aut. Recessive | NM_000350 | ex45 | c.6184_6188del | p.(Val2062Argfs*33) | HET | NA | P |
CRD | ADAM9 | Aut. Recessive | NM_003816 | ex8 | c.725 T > G | p.Leu242Arg | HOM | NA | VUS/LP |
CRD | BEST1 | Aut. Dominant | NM_004183 | ex4 | c.318dup | p.(Met107Hisfs*125) | HET | NA | P |
MD | BEST1 | Aut. Dominant | NM_004183 | ex7 | c.718_720dup | p.(Val240dup) | HET | NA | LP |
CRD | CACNA1F | X-linked | NM_005183 | ex23 | c.2804_2806del | p.(Phe935del) | HEM | rs782068089 | VUS/LP |
CRD | CACNA1F | X-linked | NM_005183 | int23 | c.2874-1G > C | p.(?) | HEM | NA | P |
CRD | CFH | Aut. Dominant | NM_000186 | ex16 | c.2440C > T | p.(Pro814Ser) | HET | NA | VUS/LP |
MD | CFI | Aut. Dominant | NM_000204 | ex13 | c.1573T > C | p.(Ser525Pro) | HET | NA | VUS/LP |
CD | CNGB3 | Aut. Recessive | NM_019098 | ex2 | c.143del | p.(Gly48Valfs*35) | HOM | NA | LP |
CRD | CRB1 | Aut. Dominant | NM_201253 | ex7 | c.2149G > T | p.(Gly717Cys) | HET | NA | LP |
CRD | CRX | Aut. Dominant | NM_000554 | ex4 | c.329del | p.(Gly110Alafs*77) | HET | rs761108522 | P |
CRD | GUCA1A | Aut. Dominant | NM_000409 | ex4 | c.312_313delinsGC | p.(Asn104_Gly105delinsLysArg) | HET | NA | VUS/LP |
CD | GUCY2D | Aut. Dominant | NM_000180 | ex2 | c.286T > C | p.(Phe96Leu) | HET | NA | VUS/LP |
MD | GUCY2D | Aut. Dominant | NM_000180 | ex13 | c.2480A > C | p.(Tyr827Ser) | HET | NA | VUS/LP |
CD | GUCY2D | Aut. Dominant | NM_000180 | ex13 | c.2546C > G | p.(Thr849Arg) | HET | NA | LP |
CRD | IMPG2 | Aut. Dominant | NM_016247 | ex2 | c.283G > C | p.(Glu95Gln) | HET | rs1198094357 | VUS/LP |
CD | KCNV2 | Aut. Recessive | NM_133497 | ex2 | c.1427T > G | p.(Leu476Arg) | HOM | rs796658305 | LP |
CD | PDE6C | Aut. Recessive | NM_006204 | ex17 | c.2087C > T | p.(Thr696Met) | HET | rs41290222 | VUS/LP |
CD | PDE6C | Aut. Recessive | NM_006204 | ex20 | c.2367 + 1_2367 + 5del | p.(?) | HET | rs796051871 | P |
CRD | POC1B | Aut. Recessive | NM_172240 | ex6 | c.587C > T | p.(Pro196Leu) | HET | NA | VUS/LP |
CD | PRPH2 | Aut. Dominant | NM_000322 | ex1 | c.568A > G | p.(Lys190Glu) | HET | NA | VUS/LP |
CD | PRPH2 | Aut. Dominant | NM_000322 | ex2 | c.621C > A | p.(Asp207Glu) | HET | NA | LP |
MD | RP1L1 | Aut. Dominant | NM_178857 | ex2 | c.563 T > C | p.(Leu188Pro) | HET | NA | VUS/LP |
CRD | TTLL5 | Aut. Recessive | NM_015072 | ex10 | c.800T > C | p.(Leu267Pro) | HOM | NA | VUS/LP |
CRD | TTLL5 | Aut. Recessive | NM_015072 | ex13 | c.1060G > A | p.(Val354Met) | HOM | rs781509883 | VUS/LP |
CRD | TTLL5 | Aut. Recessive | NM_015072 | ex17 | c.1442G > C | p.(Gly481Ala) | HOM | rs771482604 | VUS/LP |
CRD | TULP1 | Aut. Recessive | NM_003322 | ex8 | c.822G > T | p.(Lys274Asn) | HET | NA | VUS/LP |
