Q16518
PR
Gene name |
RPE65 |
Protein name |
Retinoid isomerohydrolase |
Names |
All-trans-retinyl-palmitate hydrolase, Lutein isomerase, Meso-zeaxanthin isomerase, Retinal pigment epithelium-specific 65 kDa protein, Retinol isomerase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6121 |
EC number |
3.1.1.64: Carboxylic ester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q16518
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16518-F1 | Predicted | AlphaFoldDB |
586 variants for Q16518
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001376504 RCV001377675 rs281865285 RCV000085190 |
1 | M>T | Retinitis pigmentosa 20 Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239510 RCV001834093 CA902661 rs777461552 |
3 | I>V | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000689657 rs747393487 |
4 | Q>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645959906 RCV001349633 |
18 | T>S | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001309761 rs1645959875 |
19 | V>E | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001075170 rs62642582 RCV000085207 |
20 | E>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001825925 rs755545288 RCV001346164 CA902631 |
20 | E>K | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218527 RCV001250672 RCV002222384 CA226576 rs61751277 VAR_017126 RCV000085218 |
22 | L>P | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000504723 RCV001377674 RCV002496962 RCV001250673 RCV001834621 rs199683808 RCV001724032 CA902628 |
25 | P>L | Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinal dystrophy Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001376508 rs281865286 RCV000085230 RCV002514527 |
31 | T>missing | Retinitis pigmentosa 20 Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001834109 RCV001239945 CA902594 rs371586530 |
36 | L>F | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_060808 | 36 | L>del | LCA2 [UniProt] | Yes | UniProt |
|
rs1557603965 RCV000754596 CA340749285 |
37 | W>S | Congenital isolated adrenocorticotropic hormone deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001073366 rs1645946362 |
38 | L>R | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_081684 | 40 | G>D | LCA2 [UniProt] | Yes | UniProt |
|
CA226491 RCV000132582 RCV001250675 RCV000085155 RCV002498450 RCV001275340 RCV001074416 rs61751281 RCV001047503 VAR_017127 |
40 | G>S | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinal dystrophy LCA2; reduced protein levels; decreased function in the retinoid cycle [NCI-TCGA, ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001773551 RCV001829042 RCV001243775 CA902590 rs750724065 |
42 | L>F | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis Leber congenital amaurosis 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002466496 RCV000787883 rs368088025 RCV001275339 CA902588 RCV001249416 RCV000416243 RCV000528380 |
44 | R>* | RPE65-Related Disorders Retinitis pigmentosa RPE65-related recessive retinopathy Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs61751282 COSM911895 RCV000701390 RCV000085166 RCV001250676 RCV001275338 CA226506 VAR_017128 RCV001808321 RCV001257816 |
44 | R>Q | Autosomal recessive retinitis pigmentosa Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 20 endometrium Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2; severely decreased retinol isomerase activity [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs61752865 RCV001250677 RCV000085170 |
47 | P>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051752 rs1645945978 |
50 | F>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340749064 VAR_071672 rs1266217912 |
60 | L>P | RP20 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV001250678 rs1645945582 |
62 | D>E | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250679 rs1645945643 |
63 | G>R | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250680 rs1645945599 |
64 | Q>* | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340749010 rs1344724754 VAR_070172 |
67 | L>R | LCA2; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA340749000 RCV000754598 rs1557603862 |
68 | H>P | Congenital isolated adrenocorticotropic hormone deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_017129 rs61752866 CA226523 RCV000085179 |
68 | H>Y | LCA2 [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
| VAR_067160 | 70 | F>V | LCA2 and RP20 [UniProt] | Yes | UniProt |
|
rs1553153597 RCV002287424 CA340748948 RCV000553292 |
72 | F>S | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002494926 RCV000381272 rs201062742 CA902578 COSM1264539 RCV002520510 RCV000326761 |
75 | G>E | Retinitis pigmentosa oesophagus Leber congenital amaurosis 2 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1571172233 RCV001003188 CA340748920 |
76 | H>P | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348498 rs1571172233 |
76 | H>R | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_060809 CA226528 rs61752869 RCV000085182 |
79 | Y>H | RP20 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001053470 RCV001756143 RCV001098873 RCV001098872 CA340748885 rs1429137932 RCV000754977 |
81 | R>I | Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002556009 RCV001098870 RCV002480467 CA902559 rs763317722 RCV001098871 |
85 | R>C | Retinitis pigmentosa Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_060810 RCV002514526 CA226529 rs61752870 COSM171737 RCV000085183 |
85 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Leber congenital amaurosis 2 RP20; uncertain pathological significance [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1645931073 RCV001760420 RCV001326816 |
86 | T>N | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370076628 CA902553 RCV001275288 RCV001041393 |
90 | V>I | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis Leber congenital amaurosis 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_067161 CA226534 RCV001250683 rs61752873 RCV000085187 |
91 | R>P | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001275336 RCV000085186 CA226533 RCV001731373 VAR_017131 RCV002247485 rs61752873 RCV001061074 |
91 | R>Q | Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2; severely decreased retinol isomerase activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001275337 RCV000527143 CA226531 RCV001257818 RCV001250682 VAR_017130 RCV001073556 rs61752871 RCV000013994 RCV000787698 RCV001095690 RCV001813981 RCV000085184 |
91 | R>W | Autosomal recessive retinitis pigmentosa Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinal dystrophy Retinitis pigmentosa (rp) Retinitis pigmentosa 20 (rp20) RP20 and LCA2; reduced protein levels; decreased function in the retinoid cycle [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1645930710 RCV001350344 |
94 | T>A | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_060811 CA226535 COSM682303 rs61752874 RCV000085188 |
95 | E>Q | lung Variant assessed as Somatic; impact. RP20 [Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
RCV000754976 rs62642583 RCV000815030 RCV000986333 RCV000085189 |
98 | I>missing | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304231 RCV001835468 rs1645930635 |
98 | I>T | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143056561 COSM194767 RCV000972144 CA902549 VAR_067162 RCV001275335 RCV001097120 RCV001097119 |
99 | V>I | kidney Retinitis pigmentosa large_intestine Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2; unknown pathological significance [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA902548 rs142626873 RCV001063520 RCV001275334 |
100 | I>L | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001089888 VAR_083292 RCV002554669 RCV001073555 CA340748300 rs1444234037 |
101 | T>I | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinal dystrophy LCA2; severely decreased retinol isomerase activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001249229 RCV001275333 rs62642584 RCV000763389 RCV000085192 CA226540 |
102 | E>* | RPE65-Related Disorders Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs62642584 VAR_060812 CA226539 RCV000085191 |
102 | E>K | Leber congenital amaurosis 2 (lca2) RP20 and LCA2 [Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001246228 rs1645930469 |
103 | F>S | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767478543 RCV001257819 |
104 | G>R | Autosomal recessive retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA226542 RCV000085193 rs61752875 RCV001588914 |
104 | G>V | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001250684 RCV001249891 RCV001235816 rs1260914084 |
105 | T>N | Retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002535759 CA340748193 RCV000787882 rs1571170561 |
110 | D>G | Retinitis pigmentosa Leber congenital amaurosis 2 Retinitis pigmentosa (rp) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000288725 CA10603953 RCV002519096 rs886042220 |
111 | P>S | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001074561 rs886042220 |
111 | P>T | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_083293 rs61752876 |
118 | R>S | LCA2; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV001089893 rs1015895028 |
118 | R>S | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000754975 RCV001387317 rs121918844 |
121 | S>missing | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA226545 RCV000538669 RCV000986332 RCV001275332 RCV000085195 rs61752877 RCV002490740 |
124 | R>* | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA902517 RCV001278138 rs375611153 |
128 | V>F | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000013998 RCV000085196 RCV000665910 CA226547 VAR_017132 rs61752878 RCV000986331 RCV002265555 RCV001278137 |
132 | A>T | Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinitis pigmentosa 20 (rp20) RP20; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1276965909 RCV001097114 CA340747909 RCV001097113 |
132 | A>V | Retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001207157 rs1170746947 |
134 | V>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645928251 RCV001250696 |
136 | V>G | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340747862 RCV000754974 rs1191496583 RCV000542372 |
140 | G>E | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001245546 rs1469460289 |
141 | E>* | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_017133 RCV000085198 CA226550 rs61752880 RCV001854498 |
144 | Y>D | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA340747763 rs767528365 RCV000678616 |
145 | A>P | Leber congenital amaurosis 2 (lca2) Cone-rod dystrophy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767528365 RCV001244171 CA902508 RCV001836228 RCV001701309 |
145 | A>T | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002499440 rs1201299067 RCV001830054 RCV001388258 RCV001250704 |
147 | T>missing | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645927790 RCV001250707 |
148 | E>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61752882 CA226553 RCV001250685 VAR_060813 RCV000085200 |
148 | E>D | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002535068 CA23574788 rs891340302 RCV000728310 |
150 | N>S | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001102520 RCV001102519 rs1645927491 |
158 | E>D | Retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206190 CA902499 rs774309607 RCV001089896 VAR_083294 |
162 | T>P | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2; unknown pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000778252 RCV001250708 VAR_060814 RCV001245153 CA226557 RCV000085203 RCV001831894 RCV000678617 rs61752883 |
167 | D>Y | RPE65-Related Disorders Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 RP20 and LCA2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001039691 rs1645898563 |
169 | C>* | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645898589 RCV001278136 |
169 | C>R | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001257820 rs1645898413 |
172 | V>D | Autosomal recessive retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA902474 rs771863086 RCV001341988 RCV001831077 |
175 | N>S | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001319194 rs1645898290 |
179 | A>T | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1645898265 RCV001238369 |
179 | A>V | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000085204 VAR_060815 CA226558 RCV001250687 rs61752884 |
182 | H>N | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2 [NCI-TCGA, Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_017134 RCV001388257 RCV000085205 RCV001257821 CA226559 rs61752884 |
182 | H>Y | Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000994023 RCV001593170 rs1010958875 CA23572126 RCV001585900 RCV002549849 |
183 | I>V | Retinitis pigmentosa 20 Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553153243 CA340747108 RCV000626100 |
186 | D>N | Variant assessed as Somatic; impact. Leber congenital amaurosis 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001585895 RCV001219364 CA902468 rs752058510 RCV000986330 RCV002255100 |
187 | G>E | RPE65-Related Disorders Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA902465 RCV001585980 RCV001100592 RCV002554965 RCV001100593 rs752990312 |
189 | V>I | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [NCI-TCGA, ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA340747062 rs1189903735 RCV001250686 |
191 | N>D | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000085209 rs61752887 COSM1503362 CA226565 RCV002513923 |
205 | N>S | lung Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000085210 RCV001388255 rs61752888 RCV001250700 |
206 | I>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001029769 CA902456 RCV001836068 rs768445391 RCV001208105 RCV001073324 |
206 | I>T | Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1170839612 RCV001348731 |
208 | K>N | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA203400 rs114379164 RCV000950898 RCV000179752 |
225 | I>M | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001830037 RCV001248290 rs750099371 CA902426 |
226 | V>I | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000265981 rs886046510 CA10611418 RCV000321010 |
228 | Q>P | Retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000013993 COSM169998 rs61752895 RCV001831567 RCV001236263 CA226577 RCV000085219 RCV001376448 |
234 | R>* | large_intestine Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinitis pigmentosa 20 (rp20) [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002554964 CA902424 RCV001100588 rs577193739 RCV001100589 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Leber congenital amaurosis 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_080043 | 234 | R>del | LCA2; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001250699 rs1645885900 RCV001390652 |
236 | K>* | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA226579 rs61752896 VAR_060816 RCV000678618 RCV001207227 RCV000085220 RCV001831895 |
239 | Y>D | Leber congenital amaurosis Leber congenital amaurosis 2 LCA2 and RP20; severely decreased retinol isomerase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA902422 rs192907397 RCV000754973 RCV001244442 |
240 | V>F | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA902423 RCV001098761 rs192907397 RCV001098762 RCV002557998 |
240 | V>I | Retinitis pigmentosa Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1557600322 RCV001003187 CA340745914 |
241 | H>L | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000754597 rs1557600322 CA340745913 |
241 | H>R | Congenital isolated adrenocorticotropic hormone deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1343005273 RCV001278135 RCV003166561 RCV001247781 CA340745855 |
248 | N>K | Leber congenital amaurosis Leber congenital amaurosis 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001234482 CA902405 rs758264644 RCV001828865 |
248 | N>S | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001833815 CA902404 rs373652862 RCV001206748 |
249 | Y>C | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001827422 RCV001065289 CA340745838 rs1325815513 |
251 | V>I | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340745829 RCV001549804 RCV000672055 rs1553153135 |
252 | F>S | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001250709 rs1645883131 |
257 | V>G | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs988133284 RCV001382566 RCV001731903 RCV000754599 CA340745589 |
275 | Y>* | Retinitis pigmentosa Congenital isolated adrenocorticotropic hormone deficiency Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001227820 rs1645882447 |
277 | D>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002502181 rs144612129 RCV000305340 CA902383 RCV000360661 RCV002520509 |
282 | N>S | Retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs281865289 VAR_017135 RCV000085226 CA226585 RCV002226457 |
287 | V>F | Leber congenital amaurosis 2 LCA2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001830003 rs377762154 RCV001247069 CA902355 |
292 | A>T | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001275283 RCV000078655 CA146043 RCV002483132 RCV000085227 RCV001097020 VAR_060817 RCV000552728 rs61752901 RCV001097019 |
294 | K>T | Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinitis pigmentosa (rp) RP20; likely benign variant; very mild decrease of retinol isomerase activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000414568 RCV001275330 RCV001074534 rs61752902 RCV001225799 |
298 | K>missing | Leber congenital amaurosis Leber congenital amaurosis 2 Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201075875 RCV002290601 RCV001097017 RCV001097018 RCV001245178 RCV001828548 CA902346 |
301 | N>S | Retinitis pigmentosa Leber congenital amaurosis Retinitis pigmentosa 87 with choroidal involvement Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA226589 RCV000022753 RCV002513174 RCV000085231 rs61752904 RCV002490403 |
303 | K>* | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1645880293 RCV001250689 |
305 | R>I | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1171545533 RCV001212438 CA340744901 |
306 | T>I | Variant assessed as Somatic; impact. Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1261473838 RCV002558024 RCV001102430 RCV001102431 CA340744891 |
307 | S>F | Retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1645880232 RCV001250690 |
308 | P>L | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067163 rs1375943362 CA340744821 |
313 | H>R | LCA2 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
CA902339 RCV001828780 rs761284021 RCV001773503 RCV001223252 |
318 | Y>C | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA226592 rs61752905 RCV001854499 RCV000085233 RCV001089895 VAR_083295 |
318 | Y>N | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2; severely decreased retinol isomerase activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001233846 RCV000085235 rs61752906 RCV001074533 |
321 | N>missing | Leber congenital amaurosis 2 Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001275282 RCV000078656 RCV001102427 RCV001258234 RCV001727561 RCV000945854 VAR_017136 CA146044 rs149916178 RCV001102426 |
321 | N>K | Joubert syndrome 9 (jbts9) Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 2 Joubert syndrome 9 no effect on retinol isomerase activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000259446 RCV000354218 RCV001229718 RCV001833426 rs761227832 CA902337 |
325 | I>M | Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1169420841 RCV000672144 CA340744630 |
328 | L>F | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA226599 RCV000808234 VAR_060818 rs61752908 RCV000085237 RCV001250691 |
330 | C>Y | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1571165140 RCV000815733 |
331 | W>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250692 rs1645879569 RCV001257822 RCV002570429 |
331 | W>* | Autosomal recessive retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340744560 VAR_067164 rs1459522532 |
333 | G>R | LCA2; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA340744471 rs1571164534 RCV000986329 |
335 | E>V | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001299163 rs1645875407 |
338 | Y>C | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61752909 RCV000986328 RCV000085141 RCV001047062 RCV000013997 RCV002496352 RCV001831568 CA226472 VAR_017137 |
341 | L>S | Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinitis pigmentosa 20 (rp20) RP20 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001835227 rs769440649 CA902310 RCV001245109 |
345 | N>S | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002554658 COSM1474173 CA902309 rs562037932 RCV001073373 |
347 | R>H | Variant assessed as Somatic; 0.0 impact. Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 breast Retinal dystrophy [NCI-TCGA, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000013992 RCV002466426 RCV001074144 RCV001830624 RCV000812394 RCV001250698 RCV001383022 rs281865520 RCV000085145 RCV001826772 RCV000732582 |
356 | N>missing | Retinal dystrophy RPE65-related recessive retinopathy Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs187198628 RCV001100475 RCV001044603 RCV001100474 CA902305 |
357 | A>D | Retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs62646883 CA226480 RCV000085147 RCV001854496 |
360 | A>P | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1571164333 RCV001003571 CA340744135 |
362 | Q>* | Autism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000815732 CA256730 RCV001250693 RCV001826460 VAR_017138 RCV000013996 rs121917744 |
363 | P>T | Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinitis pigmentosa 20 (rp20) LCA2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs764589805 RCV001042626 CA340744085 |
366 | R>S | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_070173 RCV000085151 CA226485 rs62653012 |
368 | Y>C | LCA2; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA226484 RCV000787920 RCV001275328 RCV000022750 VAR_017139 RCV000085150 RCV000022749 rs62653011 RCV001054423 RCV000348257 |
368 | Y>H | RPE65-Related Disorders Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinitis pigmentosa (rp) Retinitis pigmentosa 20 (rp20) RP20 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1645874179 RCV001327076 |
373 | N>S | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001073986 rs1645826797 |
384 | V>F | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000884725 CA902266 RCV001098674 rs201379753 RCV001098673 |
385 | T>M | Retinitis pigmentosa Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001055979 rs1645826475 |
390 | T>I | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_060819 | 393 | A>E | LCA2 [UniProt] | Yes | UniProt |
|
VAR_017140 rs62635773 CA226490 RCV000085154 |
393 | A>G | LCA2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA902255 RCV001243184 RCV001829017 rs144673747 |
399 | E>K | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001089892 rs774130993 RCV000817537 RCV001830793 CA902254 RCV001075233 RCV001593012 |
402 | W>* | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinal dystrophy [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_083296 | 402 | W>del | LCA2 [UniProt] | Yes | UniProt |
|
rs62636295 RCV000085156 RCV002465380 RCV001383021 |
404 | E>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250701 rs1645826120 |
404 | E>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA226495 rs62636297 RCV001339104 RCV000085158 RCV001835681 |
407 | V>A | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000085159 RCV001089894 VAR_083297 CA226497 RCV002509207 RCV001041992 rs62636298 |
408 | L>P | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2; severely decreased retinol isomerase activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs369142161 CA902248 RCV000802261 RCV001273332 |
413 | R>C | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001096919 RCV002555987 RCV001578815 rs200950327 CA902247 RCV001096920 |
413 | R>H | Retinitis pigmentosa Leber congenital amaurosis 2 Cone-rod dystrophy 15 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA340742798 RCV001858636 rs1571158755 RCV000986327 |
415 | A>T | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323215 rs62636299 RCV000085160 CA226499 RCV001074061 VAR_017141 |
417 | E>Q | Leber congenital amaurosis 2 Retinal dystrophy LCA2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
RCV001054426 rs62636300 VAR_018151 RCV000022754 CA226500 RCV000085161 |
431 | Y>C | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA902212 RCV001052989 rs147206805 |
433 | Y>C | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001827346 RCV001250697 rs34627040 RCV001054822 |
434 | A>E | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001096918 RCV000539372 RCV002490739 rs34627040 RCV001273331 RCV000085162 RCV000327489 RCV001096917 VAR_034477 CA226501 |
434 | A>V | Retinitis pigmentosa Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2; benign variant; no effect on retinol isomerase activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA226504 RCV000085164 rs62636302 VAR_060820 |
435 | Y>C | LCA2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA226505 RCV000085165 rs62637002 VAR_060821 |
436 | G>V | RP20 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001074419 rs1645824260 |
437 | L>F | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003130129 RCV001053365 rs1645824226 |
441 | H>R | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862663 RCV001089891 RCV001102321 VAR_083298 rs1645824187 |
443 | V>A | Retinitis pigmentosa Leber congenital amaurosis 2 LCA2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001245608 rs1420672586 RCV000515733 CA340742354 |
446 | R>S | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000013995 rs62637004 RCV001304649 RCV000085169 CA226509 RCV003114190 VAR_017142 |
452 | V>G | Retinitis pigmentosa 20 Leber congenital amaurosis 2 Retinitis pigmentosa 20 (rp20) RP20 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000171153 rs786205444 RCV001257817 |
456 | E>missing | Autosomal recessive retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001089890 RCV002511032 RCV001201914 rs1645823028 |
460 | W>* | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083299 | 460 | W>del | LCA2 [UniProt] | Yes | UniProt |
|
RCV001250694 RCV002513922 RCV000085172 CA226513 rs62637006 RCV001376503 |
462 | E>* | Retinitis pigmentosa 20 Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000678615 rs1395763356 RCV001868293 CA340741969 |
467 | P>S | Variant assessed as Somatic; impact. Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001227306 rs774211361 |
470 | P>H | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340741897 rs774211361 VAR_060822 |
470 | P>L | Variant assessed as Somatic; 0.0 impact. LCA2 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
CA226515 RCV001257424 RCV000085173 VAR_060823 rs62637007 RCV001250706 |
473 | V>D | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 RP20 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000927801 RCV001376263 VAR_067757 rs1571158279 RCV001068036 RCV001034696 RCV003117646 RCV002279647 CA340741778 RCV001074701 |
477 | D>G | RPE65-Related Disorders Retinitis pigmentosa 20 Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Neurodevelopmental disorder Retinitis pigmentosa 87 with choroidal involvement Retinal dystrophy Retinitis pigmentosa 20 (rp20) RP87; unknown pathological significance; does not affect protein abundance; does not affect subcellular localization; does not affect isomerization activity; may cause abnormal splicing mRNAs thereby decreasing protein levels [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1557595745 RCV002265965 RCV001250695 RCV001339011 |
481 | E>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001559438 rs749242996 RCV001054425 CA902169 |
482 | D>G | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000085175 RCV001826773 rs62653015 CA226517 RCV001250703 RCV001854497 |
484 | G>D | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA902151 RCV001199757 rs62653015 |
484 | G>V | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1645808193 RCV001278133 |
485 | V>A | Leber congenital amaurosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000732591 RCV002535281 CA340741271 rs1557595139 |
499 | P>L | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002552654 CA902138 rs767931252 RCV001273294 RCV001048980 |
507 | A>S | Leber congenital amaurosis Leber congenital amaurosis 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001299519 rs1645807408 |
511 | S>N | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs190761343 RCV001832419 RCV001044093 CA902136 |
511 | S>R | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000085176 RCV000132583 RCV001826461 VAR_037619 CA226519 RCV000014000 rs121917745 RCV000816506 RCV000013999 |
515 | R>W | Retinitis pigmentosa Retinitis pigmentosa 20 Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 Retinitis pigmentosa 20 (rp20) RP20 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs281865291 CA226520 RCV001826774 RCV000085177 RCV001237268 |
520 | I>T | Leber congenital amaurosis Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001278132 rs879123797 CA340740616 |
525 | T>N | Leber congenital amaurosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA23562482 RCV001211697 rs150832066 |
528 | G>R | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
CA340740566 rs1193631220 RCV000986326 VAR_060824 |
528 | G>V | Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 RP20 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001250710 rs1645806893 |
533 | S>missing | Leber congenital amaurosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002489725 RCV001828545 VAR_083300 RCV001089889 RCV001732038 CA902125 rs577335767 RCV001210767 |
533 | S>T | Leber congenital amaurosis Leber congenital amaurosis 2 (lca2) Leber congenital amaurosis 2 LCA2; unknown pathological significance [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
| TCGA novel | 2 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902660 rs534901182 |
3 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA902659 rs748096417 |
4 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1645960147 RCV001090222 |
4 | Q>H | No |
ClinVar dbSNP |
|
|
rs1557605458 CA340750367 |
4 | Q>R | No |
ClinGen Ensembl |
|
|
rs1315607990 CA340750346 |
6 | E>K | No |
ClinGen TOPMed |
|
|
rs938458992 CA23578560 |
8 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 10 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340750300 rs1233702775 |
12 | Y>* | No |
ClinGen gnomAD |
|
|
CA902633 rs758419556 |
13 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902632 rs765691555 |
18 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1349861264 CA340750166 |
23 | S>P | No |
ClinGen TOPMed |
|
|
rs201587195 CA23578452 |
23 | S>Y | No |
ClinGen Ensembl |
|
|
rs893611409 CA23578447 |
24 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs199683808 CA340750130 |
25 | P>R | Leber congenital amaurosis 2 (lca2) Retinitis pigmentosa (rp) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA340750125 rs1571174186 |
26 | L>F | No |
ClinGen Ensembl |
|
|
rs766996940 CA902626 |
26 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs794727245 RCV000175585 CA241334 |
27 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA340750103 rs1285702731 |
28 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340750062 rs1373308880 |
30 | V>A | No |
ClinGen gnomAD |
|
|
CA902624 rs774306896 |
31 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768448761 CA902623 |
32 | G>C | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA340750046 rs768448761 |
32 | G>S | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
RCV000085234 CA226594 rs61751278 |
32 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA340749322 rs1398705256 |
34 | I>F | No |
ClinGen TOPMed |
|
|
CA902596 rs748456353 |
34 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs61751280 RCV000085146 |
36 | L>missing | No |
ClinVar dbSNP |
|
|
CA902591 rs756508097 |
41 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1022487798 CA23577160 |
46 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs886042807 RCV000368059 |
49 | L>* | No |
ClinVar dbSNP |
|
|
CA23577145 rs1011553769 |
49 | L>R | No |
ClinGen TOPMed |
|
|
rs1186660643 CA340749139 |
50 | F>Y | No |
ClinGen gnomAD |
|
|
rs892723493 CA23577122 |
52 | V>D | No |
ClinGen Ensembl |
|
|
rs763536294 CA902587 |
53 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23577117 rs930635180 |
54 | S>A | No |
ClinGen TOPMed |
|
|
rs1268808384 CA340749106 |
54 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1268808384 CA340749107 |
54 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA23577102 rs375272714 |
55 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340749095 rs1193374066 |
56 | P>S | No |
ClinGen TOPMed |
|
|
rs1479049517 CA340749090 |
57 | F>L | No |
ClinGen TOPMed |
|
|
CA340748990 rs1343988525 |
69 | K>E | No |
ClinGen gnomAD |
|
|
CA902580 rs774650221 |
69 | K>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000085180 CA226524 rs281865287 |
70 | F>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1645945363 RCV001268583 |
70 | F>S | No |
ClinVar dbSNP |
|
|
CA340748927 rs267598701 CA902579 |
75 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
| TCGA novel | 83 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340748580 rs1571170742 |
84 | I>T | No |
ClinGen Ensembl |
|
|
rs1261322768 CA340748587 |
84 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA902558 rs61752870 |
85 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309759632 CA340748495 |
89 | Y>F | No |
ClinGen gnomAD |
|
|
RCV000085185 rs61752872 |
91 | R>missing | No |
ClinVar dbSNP |
|
|
CA902552 rs778323735 |
92 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA340748391 rs61752874 |
95 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 100 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61752875 CA340748262 |
104 | G>D | No |
ClinGen TOPMed |
|
|
rs767478543 CA902547 |
104 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA340748252 rs1260914084 |
105 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs142052358 CA902546 |
106 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA902545 rs775867619 |
107 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs202186372 CA902544 |
107 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1448061146 CA340748160 |
112 | C>* | No |
ClinGen gnomAD |
|
|
rs759690120 CA902543 |
112 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776612353 CA902542 |
113 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1051380960 CA23575232 |
115 | I>V | No |
ClinGen TOPMed |
|
|
rs1315670304 CA340748110 |
116 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 117 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381010953 CA340748079 |
118 | R>K | No |
ClinGen gnomAD |
|
|
rs1571170394 CA340748027 |
119 | F>V | No |
ClinGen Ensembl |
|
|
rs1478850590 CA340748013 |
120 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902522 rs761099368 |
123 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs748546353 CA902520 |
124 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1270467125 CA340747952 |
126 | V>I | No |
ClinGen gnomAD |
|
|
CA902516 rs768336015 |
129 | T>I | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA902515 rs748951871 |
131 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA340747904 rs1437631975 |
133 | L>P | No |
ClinGen gnomAD |
|
|
CA902514 rs745750377 |
134 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA902512 rs544763671 |
136 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs544763671 CA902513 |
136 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA340747855 rs1469460289 |
141 | E>K | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA340747836 rs1359997339 |
142 | D>N | No |
ClinGen TOPMed |
|
|
COSM3977842 CA340747768 rs56021047 |
144 | Y>* | lung Leber congenital amaurosis 2 (lca2) Retinitis pigmentosa (rp) [Cosmic, Ensembl] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA340747704 rs1457977097 |
147 | T>I | No |
ClinGen gnomAD |
|
|
CA23574806 rs1004377966 |
149 | T>A | No |
ClinGen Ensembl |
|
|
CA340747615 rs1294404717 |
152 | I>V | No |
ClinGen TOPMed |
|
|
rs774764689 CA902503 |
153 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774764689 CA23574735 |
153 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs762601687 CA902501 |
155 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs925278950 CA23574724 |
158 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1557602593 CA340747484 |
159 | T>S | No |
ClinGen Ensembl |
|
|
rs1360779220 CA340747410 |
162 | T>I | No |
ClinGen gnomAD |
|
|
CA340747383 rs1176748800 |
163 | I>V | No |
ClinGen gnomAD |
|
|
rs1476090966 CA340747357 |
164 | K>T | No |
ClinGen TOPMed |
|
|
CA340747340 rs1202384396 |
165 | Q>* | No |
ClinGen gnomAD |
|
|
CA902498 rs745338004 |
165 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1261673206 CA340747235 |
166 | V>I | No |
ClinGen gnomAD |
|
|
rs770565619 CA902477 |
167 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1230865018 CA340747222 |
168 | L>V | No |
ClinGen TOPMed |
|
|
CA902476 rs746904646 |
171 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902473 rs747866162 |
176 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902472 rs778732572 |
177 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA902471 rs756319324 |
178 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 179 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400341789 CA340747144 |
180 | H>R | No |
ClinGen gnomAD |
|
|
rs1280046980 CA340747146 |
180 | H>Y | No |
ClinGen gnomAD |
|
|
rs1335032692 CA340747137 |
181 | P>L | No |
ClinGen TOPMed |
|
|
rs1459110114 CA340747132 |
182 | H>R | No |
ClinGen gnomAD |
|
|
CA23572115 rs188244770 |
183 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188244770 CA902469 |
183 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340747100 rs1426240927 COSM1687870 |
187 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1196428445 CA340747090 |
188 | T>I | No |
ClinGen gnomAD |
|
|
CA902466 rs752990312 |
189 | V>L | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs533797369 CA902464 |
192 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776433230 CA902462 |
193 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420074381 CA340746992 |
195 | C>F | No |
ClinGen TOPMed |
|
|
CA23572028 rs1046084226 |
197 | G>R | No |
ClinGen Ensembl |
|
|
CA902459 rs772821305 |
199 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA902458 COSM1126953 rs141527042 |
199 | N>K | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 199 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340746940 rs1219145736 |
199 | N>S | No |
ClinGen gnomAD |
|
|
COSM1344092 CA340746933 rs1406145019 |
200 | F>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 203 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340746872 rs1557600983 |
204 | Y>* | No |
ClinGen Ensembl |
|
|
CA902457 rs748178346 |
204 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA340746878 rs1374157765 |
204 | Y>H | No |
ClinGen Ensembl |
|
|
rs1402737240 CA340746867 |
205 | N>H | No |
ClinGen TOPMed |
|
|
rs1367807503 CA340746853 |
206 | I>V | No |
ClinGen gnomAD |
|
|
CA340746842 rs1460185726 |
207 | V>L | No |
ClinGen gnomAD |
|
|
rs781416768 CA902454 |
209 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757538512 CA902453 |
210 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA902452 rs747036331 |
212 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA902451 rs777966849 |
213 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340746763 rs1224080719 |
213 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs62646881 CA226574 RCV000085217 |
215 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA340746076 rs1557600450 |
216 | K>E | No |
ClinGen Ensembl |
|
|
CA340746063 rs1557600436 |
217 | E>D | No |
ClinGen Ensembl |
|
|
rs777646597 CA902433 |
217 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483568414 CA340746068 |
217 | E>Q | No |
ClinGen gnomAD |
|
|
CA902431 rs748612997 |
219 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748612997 CA902432 |
219 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340746052 rs1240694274 |
219 | P>S | No |
ClinGen TOPMed |
|
|
rs201009374 CA902430 |
220 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340746041 rs1345706441 |
221 | S>N | No |
ClinGen TOPMed |
|
|
rs1208781001 CA340746030 |
222 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 223 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375716419 CA23571070 |
224 | E>* | No |
ClinGen ESP TOPMed |
|
|
rs559980827 CA902429 |
224 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1338162249 CA340746012 |
225 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1338162249 CA340746013 |
225 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs148361356 CA902428 |
225 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340746010 rs750099371 |
226 | V>F | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs867817996 CA23571018 |
228 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA902425 rs766880580 |
229 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865834283 CA23571004 |
230 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA23571011 rs865834283 |
230 | P>T | No |
ClinGen TOPMed |
|
|
rs577193739 CA340745957 |
234 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1382361726 CA340745935 |
237 | P>L | No |
ClinGen gnomAD |
|
|
CA340745927 rs61752896 |
239 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1424252299 CA340745908 |
242 | S>G | No |
ClinGen gnomAD |
|
|
rs868562244 CA23570991 |
242 | S>N | No |
ClinGen Ensembl |
|
|
CA902401 rs776327627 |
254 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767754954 CA902400 |
255 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1168696080 CA340745803 |
256 | P>L | No |
ClinGen gnomAD |
|
|
CA23570733 rs893938161 |
256 | P>S | No |
ClinGen Ensembl |
|
|
CA340745793 rs1191709569 |
258 | K>T | No |
ClinGen TOPMed |
|
|
RCV000085222 rs63749059 |
260 | N>missing | No |
ClinVar dbSNP |
|
|
rs768864571 CA902397 |
261 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs776087415 CA902395 |
263 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1199103073 CA340745744 |
264 | F>L | No |
ClinGen gnomAD |
|
|
CA340745737 RCV000594684 rs1457086571 |
265 | L>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA902393 rs370553891 |
265 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370553891 CA902394 |
265 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781460267 CA902392 |
268 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156741316 CA340745650 |
271 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA902390 rs746668196 |
273 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 273 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746668196 CA23570677 |
273 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA902388 rs571637161 |
275 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340745579 rs1320228634 |
276 | M>T | No |
ClinGen TOPMed |
|
|
rs752534184 CA902387 |
276 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs765187623 CA902386 |
279 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs754918678 CA902385 COSM536205 |
280 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753656894 CA902384 |
281 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762063627 CA902382 |
284 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412737636 CA340745382 |
285 | M>I | No |
ClinGen gnomAD |
|
|
rs765234445 CA902359 |
288 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA23570510 rs970298069 |
288 | W>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 288 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902358 rs760028903 |
289 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771240677 CA902356 |
291 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA902357 rs199824408 |
291 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340745136 rs773612245 |
293 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA340745114 rs1381189679 |
294 | K>N | No |
ClinGen gnomAD |
|
|
rs747824902 CA902353 |
295 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs746127684 | 296 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000085229 rs61752903 |
298 | K>missing | No |
ClinVar dbSNP |
|
|
rs768068723 CA902349 |
298 | K>N | No |
ClinGen ExAC TOPMed |
|
|
rs1015237242 CA23570433 |
298 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340745031 rs1015237242 |
298 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1348949936 CA340744998 |
299 | Y>C | No |
ClinGen gnomAD |
|
|
CA340744988 rs1162024534 |
300 | L>F | No |
ClinGen gnomAD |
|
|
rs201075875 CA902347 |
301 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189232709 CA340744963 |
302 | N>D | No |
ClinGen gnomAD |
|
|
CA340744957 rs1557599874 |
302 | N>S | No |
ClinGen Ensembl |
|
|
rs756160706 CA902345 |
303 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340744887 rs1196303805 |
308 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340744880 rs1557599850 |
309 | F>I | No |
ClinGen Ensembl |
|
|
rs758577890 CA902341 |
313 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1571165248 CA340744797 |
315 | I>V | No |
ClinGen Ensembl |
|
|
CA340744656 rs1291463939 |
326 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761471961 CA902335 |
331 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA340744552 rs1173207597 |
333 | G>V | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762116242 CA902315 |
335 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340744444 rs1289760001 |
337 | V>A | No |
ClinGen TOPMed |
|
|
CA902312 rs762755850 |
339 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902313 rs762755850 |
339 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340744382 rs1229695080 |
342 | Y>H | No |
ClinGen gnomAD |
|
|
rs775139279 CA902311 |
344 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340744356 rs1173475019 |
344 | A>P | No |
ClinGen Ensembl |
|
|
CA23569522 rs775139279 |
344 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23569514 rs936592713 |
347 | R>C | No |
ClinGen gnomAD |
|
|
rs562037932 CA340744312 |
347 | R>L | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA340744308 rs1465926622 |
348 | E>K | No |
ClinGen TOPMed |
|
|
RCV000085142 rs61752910 |
349 | N>G | No |
ClinVar dbSNP |
|
|
rs1571164422 CA340744268 |
350 | W>C | No |
ClinGen Ensembl |
|
|
CA902308 rs12145904 |
352 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs281865520 | 356 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs281865520 | 356 | N>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746758414 CA902306 |
357 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA340744179 rs1307155552 |
358 | R>G | No |
ClinGen gnomAD |
|
|
CA902304 rs559544081 |
359 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs62646883 CA902302 |
360 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567348047 CA23569436 |
360 | A>V | No |
ClinGen Ensembl |
|
|
CA340744140 rs1331683200 |
361 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 361 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158240863 CA340744121 |
363 | P>H | No |
ClinGen gnomAD |
|
|
rs1158240863 CA340744119 |
363 | P>L | No |
ClinGen gnomAD |
|
|
CA902299 rs121917744 |
363 | P>S | Leber congenital amaurosis 2 (lca2) Retinitis pigmentosa 20 (rp20) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA340744094 rs1276527969 |
366 | R>G | No |
ClinGen TOPMed |
|
|
CA340744077 rs1342662704 |
367 | R>T | No |
ClinGen TOPMed |
|
|
CA902295 rs764797700 |
368 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs776250699 CA902293 |
370 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs759083163 CA902294 |
370 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA902292 rs770760551 |
371 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747033834 CA902291 |
372 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355495996 CA340744020 |
373 | N>D | No |
ClinGen gnomAD |
|
|
RCV000085152 rs62653013 |
374 | I>missing | No |
ClinVar dbSNP |
|
|
CA902289 rs771869960 |
375 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1571158941 CA340743467 |
377 | A>G | No |
ClinGen Ensembl |
|
|
rs781070470 CA902267 |
378 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA340743443 rs1476291228 |
379 | T>R | No |
ClinGen gnomAD |
|
|
rs1242530157 CA340743424 |
381 | K>N | No |
ClinGen gnomAD |
|
|
rs974466164 CA23564445 |
383 | L>* | No |
ClinGen Ensembl |
|
|
rs1571158901 CA340743368 |
386 | L>P | No |
ClinGen Ensembl |
|
|
rs759019904 CA340743363 |
387 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753094079 CA902263 |
387 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA902264 rs759019904 |
387 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759019904 CA902265 |
387 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902262 rs779487067 |
388 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA23564398 rs546259571 |
388 | N>S | No |
ClinGen 1000Genomes |
|
|
CA340743329 rs1217379552 |
389 | T>I | No |
ClinGen gnomAD |
|
|
CA23564392 rs75303265 |
390 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA902261 rs75303265 |
390 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA902260 rs753540419 |
391 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA340743286 rs934488383 |
392 | T>I | No |
ClinGen TOPMed |
|
|
CA23564367 rs934488383 |
392 | T>N | No |
ClinGen TOPMed |
|
|
rs1329564876 CA340743258 |
394 | I>M | No |
ClinGen gnomAD |
|
|
CA902259 rs780321185 |
394 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA902258 rs760264027 |
395 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259732122 CA340743248 |
395 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749942889 CA902257 |
397 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206606444 CA340743228 |
397 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 398 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411638879 CA340743143 COSM1344085 |
400 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 401 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768447444 CA902253 |
403 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA226493 rs62636296 RCV000085157 |
403 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA340743057 rs1255454885 |
405 | P>H | No |
ClinGen TOPMed |
|
|
CA340743061 rs1476800158 |
405 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 409 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340742928 rs1235881190 |
410 | S>* | No |
ClinGen gnomAD |
|
|
CA23564286 rs199613555 |
412 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA340742880 rs1458452392 |
412 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200950327 CA340742827 |
413 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA902249 rs369142161 |
413 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1064795255 CA16617183 RCV000483168 |
415 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs532646837 CA23564084 |
416 | F>S | No |
ClinGen Ensembl |
|
|
rs1400815962 CA340742692 |
417 | E>D | No |
ClinGen gnomAD |
|
|
CA902222 rs756785114 |
418 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs751107532 CA902221 |
420 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 422 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767599203 CA902220 |
422 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1355323529 CA340742621 |
423 | Y>* | No |
ClinGen gnomAD |
|
|
CA902219 rs758321182 |
424 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs752528881 CA340742598 |
425 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA902218 rs752528881 |
425 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1180787574 CA340742578 |
427 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 428 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902215 rs773589920 |
430 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760922403 CA902216 |
430 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA340742522 rs1289316104 |
431 | Y>* | No |
ClinGen gnomAD |
|
|
rs985047210 CA23564019 |
431 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA340742511 rs1231370695 |
432 | T>K | No |
ClinGen gnomAD |
|
|
CA902214 rs774624260 |
433 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA902213 rs774624260 |
433 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 439 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902208 COSM323118 rs770615371 |
441 | H>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs746506594 CA340742362 |
445 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340742360 rs1460279725 |
446 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 447 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340742297 rs1252785686 |
448 | C>W | No |
ClinGen gnomAD |
|
|
rs1311204202 CA340742264 |
451 | N>Y | No |
ClinGen gnomAD |
|
|
rs143435745 CA902190 |
453 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340742222 rs1353289001 |
454 | T>S | No |
ClinGen TOPMed |
|
|
CA902189 rs771504682 |
455 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA902188 rs755805126 |
456 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000085171 rs62637005 CA226511 |
457 | T>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs539205642 CA902186 |
459 | V>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs780061944 CA902185 |
461 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs886046509 CA340742064 |
462 | E>D | No |
ClinGen Ensembl |
|
|
rs375358477 CA902184 |
463 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA340742008 rs1358987810 |
465 | S>* | No |
ClinGen gnomAD |
|
|
rs751747069 CA902183 |
466 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1395763356 CA340741972 |
467 | P>A | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
rs774211361 CA23563719 |
470 | P>R | No |
ClinGen gnomAD |
|
|
CA902179 rs148859816 |
473 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA902180 rs148859816 |
473 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340741851 rs148859816 |
473 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs760099873 CA902178 |
475 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340741821 rs1277991141 |
475 | H>Y | No |
ClinGen gnomAD |
|
|
rs1557595768 CA340741797 |
476 | P>R | No |
ClinGen Ensembl |
|
|
rs776910617 CA902177 |
476 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377763733 CA902175 |
478 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA902173 rs377763733 |
478 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA902174 rs377763733 |
478 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373882259 CA902172 |
479 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768710948 CA902170 |
481 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs768710948 CA340741721 |
481 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340741685 rs1355211931 |
483 | D>V | No |
ClinGen gnomAD |
|
|
rs1289523859 CA340741534 |
485 | V>I | No |
ClinGen gnomAD |
|
|
rs769814819 CA902149 |
488 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372504908 CA23562640 |
489 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs745631048 COSM3386319 CA902148 |
490 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA902146 rs758478861 |
491 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs781104072 CA902147 |
491 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1469799490 CA340741351 |
495 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340741343 rs1468393625 COSM376498 |
496 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA23562597 rs766848627 CA902141 |
497 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA23562609 rs745365047 |
497 | Q>R | No |
ClinGen Ensembl |
|
|
rs756701183 CA902140 |
498 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA23562585 rs868473289 |
505 | L>R | No |
ClinGen Ensembl |
|
|
CA23562570 rs201449203 |
507 | A>G | No |
ClinGen gnomAD |
|
|
CA340741145 rs201449203 |
507 | A>V | No |
ClinGen gnomAD |
|
|
rs369335287 CA23562561 |
508 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340741109 rs1173697304 |
510 | L>* | No |
ClinGen gnomAD |
|
|
rs763660740 CA902135 |
512 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340741065 rs1461949532 |
513 | V>A | No |
ClinGen gnomAD |
|
|
rs1327810800 CA340741069 |
513 | V>F | No |
ClinGen gnomAD |
|
|
CA902134 rs559975684 |
515 | R>Q | Leber congenital amaurosis 2 (lca2) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1192423257 CA340741004 |
518 | V>A | No |
ClinGen gnomAD |
|
|
rs759518248 CA902132 |
518 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902130 rs373274945 |
519 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA23562522 rs200661005 |
521 | N>I | No |
ClinGen Ensembl |
|
|
rs200661005 CA340740673 |
521 | N>T | No |
ClinGen Ensembl |
|
|
rs981115954 CA23562520 |
522 | I>V | No |
ClinGen Ensembl |
|
|
CA23562518 rs776329100 |
523 | P>S | No |
ClinGen Ensembl |
|
|
rs879123797 CA23562514 |
525 | T>I | No |
ClinGen TOPMed |
|
|
CA340740585 rs1194458561 |
527 | H>R | No |
ClinGen gnomAD |
|
|
CA902128 rs779073856 |
527 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000085178 rs281865292 |
530 | F>missing | No |
ClinVar dbSNP |
|
|
CA23562467 rs867808254 |
533 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA340740505 rs867808254 |
533 | S>Y | No |
ClinGen TOPMed gnomAD |
3 associated diseases with Q16518
[MIM: 204100]: Leber congenital amaurosis 2 (LCA2)
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:10090910, ECO:0000269|PubMed:10766140, ECO:0000269|PubMed:11462243, ECO:0000269|PubMed:14611946, ECO:0000269|PubMed:14962443, ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:16205573, ECO:0000269|PubMed:17297704, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:17964524, ECO:0000269|PubMed:18682808, ECO:0000269|PubMed:19431183, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:22509104, ECO:0000269|PubMed:28418496, ECO:0000269|PubMed:9326927, ECO:0000269|PubMed:9326941, ECO:0000269|PubMed:9801879}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613794]: Retinitis pigmentosa 20 (RP20)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11095629, ECO:0000269|PubMed:12960219, ECO:0000269|PubMed:15557452, ECO:0000269|PubMed:19431183, ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:23878505, ECO:0000269|PubMed:9501220}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618697]: Retinitis pigmentosa 87 with choroidal involvement (RP87)
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP87 is an autosomal dominant form characterized by a slowly progressive visual disturbance accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected. {ECO:0000269|PubMed:21654732, ECO:0000269|PubMed:27307694, ECO:0000269|PubMed:29659842, ECO:0000269|PubMed:30628748}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:10090910, ECO:0000269|PubMed:10766140, ECO:0000269|PubMed:11462243, ECO:0000269|PubMed:14611946, ECO:0000269|PubMed:14962443, ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:16205573, ECO:0000269|PubMed:17297704, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:17964524, ECO:0000269|PubMed:18682808, ECO:0000269|PubMed:19431183, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:22509104, ECO:0000269|PubMed:28418496, ECO:0000269|PubMed:9326927, ECO:0000269|PubMed:9326941, ECO:0000269|PubMed:9801879}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11095629, ECO:0000269|PubMed:12960219, ECO:0000269|PubMed:15557452, ECO:0000269|PubMed:19431183, ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:23878505, ECO:0000269|PubMed:9501220}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP87 is an autosomal dominant form characterized by a slowly progressive visual disturbance accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected. {ECO:0000269|PubMed:21654732, ECO:0000269|PubMed:27307694, ECO:0000269|PubMed:29659842, ECO:0000269|PubMed:30628748}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q16518
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q16518 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.1.64 | Carboxylic ester hydrolases |
| Subcellular Localization |
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| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell body | The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity | Catalysis of the reaction: H(2)O + all-trans-retinyl ester = 11-cis-retinol + fatty acid. |
| all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity | Catalysis of the reaction: H(2)O + all-trans-retinyl palmitate = 11-cis-retinol + H(+) + palmitate. |
| cardiolipin binding | Binding to cardiolipin. |
| isomerase activity | Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. |
| metal ion binding | Binding to a metal ion. |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from one donor, and two oxygen atoms is incorporated into a donor. |
| phosphatidylcholine binding | Binding to a phosphatidylcholine, a glycophospholipid in which a phosphatidyl group is esterified to the hydroxyl group of choline. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
| retinal isomerase activity | Catalysis of the reaction: all-trans-retinal = 11-cis-retinal. |
| retinol isomerase activity | Catalysis of the reaction: all-trans-retinol = 11-cis-retinol. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to electrical stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electrical stimulus. |
| circadian rhythm | Any biological process in an organism that recurs with a regularity of approximately 24 hours. |
| detection of light stimulus involved in visual perception | The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. |
| insulin receptor signaling pathway | The series of molecular signals generated as a consequence of the insulin receptor binding to insulin. |
| neural retina development | The progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| retina homeostasis | A tissue homeostatic process involved in the maintenance of an internal equilibrium within the retina of the eye, including control of cellular proliferation and death and control of metabolic function. |
| retina morphogenesis in camera-type eye | The process in which the anatomical structure of the retina is generated and organized. |
| retinal metabolic process | The chemical reactions and pathways involving retinal, a compound that plays an important role in the visual process in most vertebrates. In the retina, retinal combines with opsins to form visual pigments. Retinal is one of the forms of vitamin A. |
| retinoid metabolic process | The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
| vitamin A metabolic process | The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. |
| zeaxanthin biosynthetic process | The chemical reactions and pathways resulting in the formation of zeaxanthin. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28175 | RPE65 | Retinoid isomerohydrolase | Bos taurus (Bovine) | PR |
| Q9YGX2 | RPE65 | Retinoid isomerohydrolase | Gallus gallus (Chicken) | PR |
| Q9TVB8 | RPE65 | Retinoid isomerohydrolase | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| O24592 | VP14 | 9-cis-epoxycarotenoid dioxygenase 1, chloroplastic | Zea mays (Maize) | PR |
| Q91ZQ5 | Rpe65 | Retinoid isomerohydrolase | Mus musculus (Mouse) | PR |
| O70276 | Rpe65 | Retinoid isomerohydrolase | Rattus norvegicus (Rat) | PR |
| Q8LIY8 | CCD8B | Carotenoid cleavage dioxygenase 8 homolog B, chloroplastic | Oryza sativa subsp japonica (Rice) | PR |
| Q9C6Z1 | NCED5 | Probable 9-cis-epoxycarotenoid dioxygenase NCED5, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LRR7 | NCED3 | 9-cis-epoxycarotenoid dioxygenase NCED3, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LRM7 | NCED6 | 9-cis-epoxycarotenoid dioxygenase NCED6, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSIQVEHPAG | GYKKLFETVE | ELSSPLTAHV | TGRIPLWLTG | SLLRCGPGLF | EVGSEPFYHL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FDGQALLHKF | DFKEGHVTYH | RRFIRTDAYV | RAMTEKRIVI | TEFGTCAFPD | PCKNIFSRFF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SYFRGVEVTD | NALVNVYPVG | EDYYACTETN | FITKINPETL | ETIKQVDLCN | YVSVNGATAH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PHIENDGTVY | NIGNCFGKNF | SIAYNIVKIP | PLQADKEDPI | SKSEIVVQFP | CSDRFKPSYV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HSFGLTPNYI | VFVETPVKIN | LFKFLSSWSL | WGANYMDCFE | SNETMGVWLH | IADKKRKKYL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NNKYRTSPFN | LFHHINTYED | NGFLIVDLCC | WKGFEFVYNY | LYLANLRENW | EEVKKNARKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PQPEVRRYVL | PLNIDKADTG | KNLVTLPNTT | ATAILCSDET | IWLEPEVLFS | GPRQAFEFPQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| INYQKYCGKP | YTYAYGLGLN | HFVPDRLCKL | NVKTKETWVW | QEPDSYPSEP | IFVSHPDALE |
| 490 | 500 | 510 | 520 | 530 | |
| EDDGVVLSVV | VSPGAGQKPA | YLLILNAKDL | SEVARAEVEI | NIPVTFHGLF | KKS |