1 |
RPE65 |
NM_000329.3(RPE65):c.1067del (p.Asn356fs) |
DEL |
Pathogenic
Pathogenic
|
98821 |
rs281865520 |
GRCh37: 1:68903931-68903931 GRCh38: 1:68438248-68438248 |
2 |
RPE65 |
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) |
SNV |
Pathogenic
Pathogenic
|
13114 |
rs61752895 |
GRCh37: 1:68905269-68905269 GRCh38: 1:68439586-68439586 |
3 |
RPE65 |
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) |
SNV |
Pathogenic
Pathogenic
|
13120 |
rs121917745 |
GRCh37: 1:68895518-68895518 GRCh38: 1:68429835-68429835 |
4 |
RPE65 |
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) |
SNV |
Pathogenic
Pathogenic
|
29870 |
rs62653011 |
GRCh37: 1:68903896-68903896 GRCh38: 1:68438213-68438213 |
5 |
RPE65 |
NM_000329.3(RPE65):c.11+5G>A |
SNV |
Pathogenic
Pathogenic
|
98825 |
rs61751276 |
GRCh37: 1:68915573-68915573 GRCh38: 1:68449890-68449890 |
6 |
RPE65 |
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) |
SNV |
Pathogenic
|
29872 |
rs61752904 |
GRCh37: 1:68904716-68904716 GRCh38: 1:68439033-68439033 |
7 |
RPE65 |
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) |
SNV |
Pathogenic
Pathogenic
|
29873 |
rs62636300 |
GRCh37: 1:68897011-68897011 GRCh38: 1:68431328-68431328 |
8 |
RPE65 |
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) |
SNV |
Pathogenic
|
374497 |
rs368088025 |
GRCh37: 1:68912508-68912508 GRCh38: 1:68446825-68446825 |
9 |
RPE65 |
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) |
SNV |
Pathogenic
Pathogenic
|
98866 |
rs61752877 |
GRCh37: 1:68910339-68910339 GRCh38: 1:68444656-68444656 |
10 |
RPE65 |
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) |
SNV |
Pathogenic
|
467827 |
rs1191496583 |
GRCh37: 1:68910290-68910290 GRCh38: 1:68444607-68444607 |
11 |
RPE65 |
NM_000329.3(RPE65):c.95-2A>T |
SNV |
Pathogenic
Pathogenic
|
98899 |
rs61751279 |
GRCh37: 1:68912545-68912545 GRCh38: 1:68446862-68446862 |
12 |
RPE65 |
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) |
SNV |
Pathogenic
Pathogenic
|
98889 |
rs61752896 |
GRCh37: 1:68905254-68905254 GRCh38: 1:68439571-68439571 |
13 |
RPE65 |
NM_000329.3(RPE65):c.10del (p.Gln4fs) |
DEL |
Pathogenic
|
569113 |
rs747393487 |
GRCh37: 1:68915579-68915579 GRCh38: 1:68449896-68449896 |
14 |
RPE65 |
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) |
SNV |
Pathogenic
Likely Pathogenic
|
98840 |
rs61751282 |
GRCh37: 1:68912507-68912507 GRCh38: 1:68446824-68446824 |
15 |
RPE65 |
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) |
DUP |
Pathogenic
Pathogenic
|
596673 |
rs281865520 |
GRCh37: 1:68903930-68903931 GRCh38: 1:68438247-68438248 |
16 |
RPE65 |
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) |
DEL |
Pathogenic
Pathogenic
|
98860 |
rs62642583 |
GRCh37: 1:68910501-68910520 GRCh38: 1:68444818-68444837 |
17 |
RPE65 |
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) |
SNV |
Pathogenic
Pathogenic
|
13117 |
rs121917744 |
GRCh37: 1:68903911-68903911 GRCh38: 1:68438228-68438228 |
18 |
RPE65 |
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) |
SNV |
Pathogenic
Likely Pathogenic
|
660359 |
rs774130993 |
GRCh37: 1:68897192-68897192 GRCh38: 1:68431509-68431509 |
19 |
RPE65 |
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) |
SNV |
Pathogenic
|
98863 |
rs62642584 |
GRCh37: 1:68910508-68910508 GRCh38: 1:68444825-68444825 |
20 |
RPE65 |
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) |
SNV |
Pathogenic
|
801494 |
rs1193631220 |
GRCh37: 1:68895478-68895478 GRCh38: 1:68429795-68429795 |
21 |
overlap with 2 genes |
NC_000001.11:g.(?_68438187)_(68484090_?)del |
DEL |
Pathogenic
|
830561 |
|
GRCh37: 1:68903870-68949773 GRCh38: |
22 |
RPE65 |
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) |
SNV |
Pathogenic
|
838191 |
rs1645898563 |
GRCh37: 1:68906672-68906672 GRCh38: 1:68440989-68440989 |
23 |
RPE65 |
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) |
SNV |
Pathogenic
Pathogenic
|
13118 |
rs61752909 |
GRCh37: 1:68903976-68903976 GRCh38: 1:68438293-68438293 |
24 |
RPE65 |
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) |
SNV |
Pathogenic
Pathogenic
|
98830 |
rs61751281 |
GRCh37: 1:68912520-68912520 GRCh38: 1:68446837-68446837 |
25 |
RPE65 |
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs) |
INSERT |
Pathogenic
|
848072 |
rs1645945978 |
GRCh37: 1:68912490-68912491 GRCh38: 1:68446807-68446808 |
26 |
RPE65 |
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) |
SNV |
Pathogenic
Conflicting Interpretations Of Pathogenicity
|
559523 |
rs1429137932 |
GRCh37: 1:68912396-68912396 GRCh38: 1:68446713-68446713 |
27 |
RPE65 |
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) |
SNV |
Pathogenic
Pathogenic
|
98857 |
rs61752873 |
GRCh37: 1:68910540-68910540 GRCh38: 1:68444857-68444857 |
28 |
RPE65 |
NM_000329.3(RPE65):c.1338+1G>A |
SNV |
Pathogenic
|
374139 |
rs1057518922 |
GRCh37: 1:68896964-68896964 GRCh38: 1:68431281-68431281 |
29 |
RPE65 |
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) |
SNV |
Pathogenic
|
750796 |
rs1571158279 |
GRCh37: 1:68896768-68896768 GRCh38: 1:68431085-68431085 |
30 |
RPE65 |
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) |
SNV |
Pathogenic
Likely Pathogenic
|
870343 |
rs1645823028 |
GRCh37: 1:68896818-68896818 GRCh38: 1:68431135-68431135 |
31 |
RPE65 |
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) |
SNV |
Pathogenic
|
937681 |
rs373652862 |
GRCh37: 1:68904986-68904986 GRCh38: 1:68439303-68439303 |
32 |
RPE65 |
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) |
SNV |
Pathogenic
Likely Pathogenic
|
98888 |
rs61751277 |
GRCh37: 1:68914336-68914336 GRCh38: 1:68448653-68448653 |
33 |
RPE65 |
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) |
SNV |
Pathogenic
Likely Pathogenic
|
801497 |
rs752058510 |
GRCh37: 1:68906619-68906619 GRCh38: 1:68440936-68440936 |
34 |
RPE65 |
NM_000329.3(RPE65):c.726-2A>T |
SNV |
Pathogenic
Pathogenic
|
952461 |
rs878853372 |
GRCh37: 1:68905008-68905008 GRCh38: 1:68439325-68439325 |
35 |
RPE65 |
NM_000329.3(RPE65):c.893del (p.Lys298fs) |
DEL |
Pathogenic
|
372493 |
rs61752902 |
GRCh37: 1:68904730-68904730 GRCh38: 1:68439047-68439047 |
36 |
RPE65 |
NM_000329.3(RPE65):c.829_833del (p.Asp277fs) |
DEL |
Pathogenic
|
955219 |
rs1645882447 |
GRCh37: 1:68904899-68904903 GRCh38: 1:68439216-68439220 |
37 |
RPE65 |
NM_000329.3(RPE65):c.962dup (p.Asn321fs) |
DUP |
Pathogenic
|
98902 |
rs61752906 |
GRCh37: 1:68904660-68904661 GRCh38: 1:68438977-68438978 |
38 |
RPE65 |
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) |
SNV |
Pathogenic
Likely Pathogenic
|
98873 |
rs61752883 |
GRCh37: 1:68906680-68906680 GRCh38: 1:68440997-68440997 |
39 |
RPE65 |
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter) |
SNV |
Pathogenic
|
970047 |
rs1469460289 |
GRCh37: 1:68910288-68910288 GRCh38: 1:68444605-68444605 |
40 |
RPE65 |
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) |
SNV |
Pathogenic
|
427864 |
rs1420672586 |
GRCh37: 1:68896965-68896965 GRCh38: 1:68431282-68431282 |
41 |
RPE65 |
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) |
SNV |
Pathogenic
Pathogenic
|
973963 |
rs1645885900 |
GRCh37: 1:68905263-68905263 GRCh38: 1:68439580-68439580 |
42 |
RPE65 |
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) |
DEL |
Pathogenic
Pathogenic
|
98880 |
rs61752888 |
GRCh37: 1:68906563-68906564 GRCh38: 1:68440880-68440881 |
43 |
RPE65 |
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs) |
INSERT |
Pathogenic
|
973964 |
rs1645826120 |
GRCh37: 1:68897187-68897188 GRCh38: 1:68431504-68431505 |
44 |
RPE65 |
NM_000329.3(RPE65):c.858+1G>A |
SNV |
Pathogenic
Pathogenic
|
98892 |
rs61752899 |
GRCh37: 1:68904873-68904873 GRCh38: 1:68439190-68439190 |
45 |
RPE65 |
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) |
MICROSAT |
Pathogenic
Pathogenic
|
973965 |
rs1201299067 |
GRCh37: 1:68910268-68910269 GRCh38: 1:68444585-68444586 |
46 |
RPE65 |
NM_000329.3(RPE65):c.1596dup (p.Ser533fs) |
DUP |
Pathogenic
|
973968 |
rs1645806893 |
GRCh37: 1:68895464-68895465 GRCh38: 1:68429781-68429782 |
47 |
RPE65 |
NM_000329.2:c.1_1602del |
DEL |
Pathogenic
|
973969 |
|
GRCh37: GRCh38: |
48 |
RPE65 |
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg) |
SNV |
Pathogenic
|
1068757 |
|
GRCh37: 1:68912438-68912438 GRCh38: 1:68446755-68446755 |
49 |
RPE65 |
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys) |
SNV |
Pathogenic
|
1068758 |
|
GRCh37: 1:68914307-68914307 GRCh38: 1:68448624-68448624 |
50 |
RPE65 |
NM_000329.3(RPE65):c.943_950del (p.Ile315fs) |
DEL |
Pathogenic
|
1069087 |
|
GRCh37: 1:68904673-68904680 GRCh38: 1:68438990-68438997 |