NM_000350.3:c.1140T>A | Saudi Arabia | NC_000001.11:g.94079421A>T | Likely Benign, Uncertain Significance | Likely Pathogenic | Retinitis Pigmentosa 19 | NG_009073.2:g.46727T>A; NM_000350.3:c.1140T>A; NP_000341.2:p.Asn380Lys | 61748549 | 99033 |
NM_000350.3:c.1532G>A | Saudi Arabia | NC_000001.11:g.94077712C>T | Benign, Likely Benign, Uncertain Significance | Likely Pathogenic | Cone-Rod Dystrophy 3 | NG_009073.2:g.48436G>A; NM_000350.3:c.1532G>A; NP_000341.2:p.Arg511His | 140482171 | 283387 |
NM_000350.3:c.1615del | Saudi Arabia | NC_000001.11:g.94063259del | Pathogenic | Likely Pathogenic | Retinitis Pigmentosa 19 | NG_009073.2:g.62891del; NM_000350.3:c.1615del; NP_000341.2:p.Leu539SerfsTer29 | 1661179785 | 978982 |
NM_000350.3:c.1630_1633dup | Saudi Arabia | NC_000001.11:g.94063239_94063242dup | Likely Pathogenic | Likely Pathogenic, Pathogenic | Cone-Rod Dystrophy 3; Retinitis Pigmentosa 19 | NG_009073.2:g.62906_62909dup; NM_000350.3:c.1630_1633dup; NP_000341.2:p.Asn545ArgfsTer12 | 793888523 | 191262 |
NM_000350.3:c.1648G>A | Lebanon | chr1:94063224 | Likely Pathogenic, Pathogenic | Likely Pathogenic, Pathogenic | Stargardt Disease 1 | NG_009073.1:g.62926G>A; NM_000350.3:c.1648G>A; NP_000341.2:p.Gly550Arg | 61748558 | 99070 |
NM_000350.3:c.1714C>T | United Arab Emirates | NC_000001.11:g.94063158G>A | Pathogenic | Pathogenic | Stargardt Disease 1 | NG_009073.1:g.62992C>T; NM_000350.3:c.1714C>T; NP_000341.2:p.Arg572Ter | 1557787756 | 620085 |
NM_000350.3:c.1804C>T | Jordan | chr1:94062710 | Pathogenic | Pathogenic | Stargardt Disease 1 | NG_009073.1:g.63440C>T; NM_000350.3:c.1804C>T; NP_000341.2:p.Arg602Trp | 61749409 | 99084 |
NM_000350.3:c.1807T>C | Lebanon | chr1:94062707 | Likely Pathogenic, Pathogenic, Uncertain Significance | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.63443T>C; NM_000350.3:c.1807T>C; NP_000341.2:p.Tyr603His | 1064793006 | 417981 |
NM_000350.3:c.2294G>A | Jordan; Saudi Arabia | chr1:94056689 | Likely Pathogenic | Likely Pathogenic, Pathogenic | Stargardt Disease 1 | NG_009073.1:g.69461G>A; NM_000350.3:c.2294G>A; NP_000341.2:p.Ser765Asn | 61749429 | 99125 |
NM_000350.3:c.2570T>C | United Arab Emirates | NC_000001.11:g.94055128A>G | Pathogenic, Uncertain Significance | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.71022T>C; NM_000350.3:c.2570T>C; NP_000341.2:p.Leu857Pro | 768435443 | 867186 |
NM_000350.3:c.2657del | United Arab Emirates | NC_000001.11:g.94048954del | | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.77196del; NM_000350.3:c.2657del; NP_000341.2:p.Cys886PhefsTer15 | | |
NM_000350.3:c.2690C>T | Saudi Arabia | NC_000001.11:g.94048921G>A | Likely Benign, Pathogenic, Uncertain Significance | Likely Pathogenic | Cone-Rod Dystrophy 3 | NG_009073.2:g.77227C>T; NM_000350.3:c.2690C>T; NP_000341.2:p.Thr897Ile | 61749440 | 99153 |
NM_000350.3:c.2791G>A | Saudi Arabia | chr1:94047046 | Likely Pathogenic | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.79104G>A; NM_000350.3:c.2791G>A; NP_000341.2:p.Val931Met | 58331765 | 7880 |
NM_000350.3:c.2815G>T | Saudi Arabia | NC_000001.11:g.94047022C>A | Likely Pathogenic | Likely Pathogenic | Retinitis Pigmentosa 19 | NG_009073.2:g.79126G>T; NM_000350.3:c.2815G>T; NP_000341.2:p.Glu939Ter | 786205447 | 190985 |
NM_000350.3:c.3259G>A | United Arab Emirates | NC_000001.11:g.94042830C>T | Pathogenic | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.83320G>A; NM_000350.3:c.3259G>A; NP_000341.2:p.Glu1087Lys | 61751398 | 99211 |
NM_000350.3:c.3482G>A | Syria | chr1:94041249 | Likely Pathogenic | Pathogenic | Retinitis Pigmentosa 19 | NG_009073.1:g.84901G>A; NM_000350.3:c.3482G>A; NP_000341.2:p.Arg1161His | 768278935 | 236102 |
NM_000350.3:c.3610G>A | Syria | chr1:94037348 | Pathogenic | Pathogenic | Cone-Rod Dystrophy 3 | NG_009073.1:g.88802G>A; NM_000350.3:c.3610G>A; NP_000341.2:p.Asp1204Asn | 61750127 | 99234 |
NM_000350.3:c.3623T>G | United Arab Emirates | NC_000001.11:g.94037335A>C | | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.88815T>G; NM_000350.3:c.3623T>G; NP_000341.2:p.Leu1208Arg | | |
NM_000350.3:c.3898C>T | United Arab Emirates | NC_000001.11:g.94032008G>A | Pathogenic | Likely Pathogenic, Pathogenic | Stargardt Disease 1 | NG_009073.1:g.94142C>T; NM_000350.3:c.3898C>T; NP_000341.2:p.Arg1300Ter | 61752427 | 99245 |
NM_000350.3:c.4328G>A | United Arab Emirates | NC_000001.11:g.94030452C>T | Likely Pathogenic, Pathogenic | Pathogenic | Stargardt Disease 1 | NG_009073.1:g.95698G>A; NM_000350.3:c.4328G>A; NP_000341.2:p.Arg1443His | 61750142 | 99278 |
NM_000350.3:c.4567C>T | United Arab Emirates | NC_000001.11:g.94025021G>A | Pathogenic | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.101129C>T; NM_000350.3:c.4567C>T; NP_000341.2:p.Gln1523Ter | 1553188916 | 522465 |
NM_000350.3:c.4793C>A | United Arab Emirates | NC_000001.11:g.94021695G>T | Likely Pathogenic, Pathogenic | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.104455C>A; NM_000350.3:c.4793C>A; NP_000341.2:p.Ala1598Asp | 61750155 | 99321 |
NM_000350.3:c.4852T>A | Saudi Arabia | NC_000001.11:g.94021406A>T | Likely Pathogenic | Likely Pathogenic | Stargardt Disease 1 | NG_009073.2:g.104742T>A; NM_000350.3:c.4852T>A; NP_000341.2:p.Trp1618Arg | 786205446 | 190984 |
NM_000350.3:c.4867G>C | Saudi Arabia | NC_000001.11:g.94021391C>G | | Likely Pathogenic | Cone-Rod Dystrophy 3; Retinitis Pigmentosa 19 | NG_009073.2:g.104757G>C; NM_000350.3:c.4867G>C; NP_000341.2:p.Gly1623Arg | | |
NM_000350.3:c.5391_5392del | Saudi Arabia | NC_000001.11:g.94014613_94014614del | Likely Pathogenic, Pathogenic | Pathogenic | Retinitis Pigmentosa 19 | NG_009073.2:g.111536_111537del; NM_000350.3:c.5391_5392del; NP_000341.2:p.Ala1798Ter | 786205445 | 190983 |
NM_000350.3:c.5461-10T>C | United Arab Emirates | NC_000001.11:g.94011395A>G | Likely Pathogenic, Pathogenic | Pathogenic | Stargardt Disease 1 | NG_009073.1:g.114755T>C; NM_000350.3:c.5461-10T>C; NP_000341.2:p.? | 1800728 | 92870 |
NM_000350.3:c.5512C>G | United Arab Emirates | NC_000001.11:g.94011334G>C | Likely Pathogenic, Pathogenic | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.114816C>G; NM_000350.3:c.5512C>G; NP_000341.2:p.His1838Asp | 62642562 | 99380 |
NM_000350.3:c.5642C>G | Saudi Arabia | NC_000001.11:g.94010872G>C | Pathogenic | Pathogenic | Retinitis Pigmentosa 19 | NG_009073.2:g.115276C>G; NM_000350.3:c.5642C>G; NP_000341.2:p.Ala1881Gly | 369973540 | 978987 |
NM_000350.3:c.5714+5G>A | United Arab Emirates | NC_000001.11:g.94010795C>T | Likely Pathogenic, Pathogenic | Pathogenic | Stargardt Disease 1 | NG_009073.1:g.115355G>A; NM_000350.3:c.5714+5G>A; NP_000341.2:p.? | 61751407 | 99403 |
NM_000350.3:c.5882G>A | Somalia; United Arab E... | NC_000001.11:g.94008251C>T | Benign, Likely Pathogenic, Pathogenic, Uncertain Significance | Likely Benign, Likely Pathogenic, Pathogenic | Stargardt Disease 1 | NG_009073.1:g.117899G>A; NM_000350.3:c.5882G>A; NP_000341.2:p.Gly1961Glu | 1800553 | 7888 |
NM_000350.3:c.607_611del | United Arab Emirates | NC_000001.11:g.94098952_94098956del | | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.27195_27199del; NM_000350.3:c.607_611del; NP_000341.2:p.Ile203LeufsTer75 | | |
NM_000350.3:c.6286G>A | Saudi Arabia | NC_000001.11:g.94001102C>T | Pathogenic, Uncertain Significance | Pathogenic | Stargardt Disease 1 | NG_009073.2:g.125046G>A; NM_000350.3:c.6286G>A; NP_000341.2:p.Glu2096Lys | 61750646 | 99445 |
NM_000350.3:c.749del | United Arab Emirates | NC_000001.11:g.94098814del | | Likely Pathogenic | Stargardt Disease 1 | NG_009073.1:g.27337del; NM_000350.3:c.749del; NP_000341.2:p.Phe250SerfsTer12 | | |