NM_000520.5:c.1177C>T | Iraq | NC_000015.10:g.72346680G>A | Pathogenic | | | NG_009017.2:g.34500C>T; NM_000520.5:c.1177C>T
; NP_000511.2:p.Arg393Ter | 121907963 | 3905 |
NM_000520.5:c.1277_1278insTATC | Iraq; Morocco | NC_000015.10:g.72346580_72346583dup | Pathogenic | Pathogenic | | NG_009017.2:g.34597_34600dup; NM_000520.5:c.1277_1278insTATC
; NP_000511.2:p.Tyr427IlefsTer5 | 387906309 | 3889 |
NM_000520.5:c.1351C>G | Iraq | NC_000015.10:g.72346305G>C | Uncertain Significance | Pathogenic | | NG_009017.2:g.34875C>G; NM_000520.5:c.1351C>G
; NP_000511.2:p.Leu451Val | 28940871 | 3942 |
NM_000520.5:c.1421+1G>C | Morocco | NC_000015.10:g.72346234C>G | Pathogenic | | | NG_009017.2:g.34946G>C; NM_000520.5:c.1421+1G>C
; NP_000511.2:p.? | 147324677 | 3890 |
NM_000520.5:c.1444G>A | Morocco | NC_000015.10:g.72345528C>T | Likely Pathogenic, Pathogenic | | | NG_009017.2:g.35652G>A; NM_000520.5:c.1444G>A
; NP_000511.2:p.Glu482Lys | 121907952 | 3892 |
NM_000520.5:c.1510delC | Iraq | NC_000015.10:g.72345463del | Pathogenic | | | NG_009017.2:g.35718del; NM_000520.5:c.1510delC
; NP_000511.2:p.Arg504AlafsTer5 | 797044433 | 3894 |
NM_000520.5:c.1511G>A | Kuwait; Lebanon; Saudi... | NC_000015.10:g.72345461C>T | Likely Pathogenic, Pathogenic | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.35719G>A; NM_000520.5:c.1511G>A
; NP_000511.2:p.Arg504His | 121907955 | 3895 |
NM_000520.5:c.1528C>T | Saudi Arabia | NC_000015.10:g.72344139G>A | Likely Pathogenic, Pathogenic | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.37041C>T; NM_000520.5:c.1528C>T
; NP_000511.2:p.Arg510Ter | 786204585 | 188954 |
NM_000520.5:c.496C>G | Syria | NC_000015.10:g.72353142G>C | | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.28038C>G; NM_000520.5:c.496C>G
; NP_000511.2:p.Arg166Gly | | |
NM_000520.5:c.498delC | Syria | NC_000015.10:g.72353140del | | Pathogenic | | NG_009017.2:g.28040del; NM_000520.5:c.498delC
; NP_000511.2:p.Pro168LeufsTer31 | | |
NM_000520.5:c.509G>A | Iraq; Morocco | NC_000015.10:g.72353129C>T | Likely Pathogenic, Pathogenic | | | NG_009017.2:g.28051G>A; NM_000520.5:c.509G>A
; NP_000511.2:p.Arg170Gln | 121907957 | 3900 |
NM_000520.5:c.533G>A | Palestine | NC_000015.10:g.72353105C>T | Pathogenic | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.28075G>A; NM_000520.5:c.533G>A
; NP_000511.2:p.Arg178His | 28941770 | 3896 |
NM_000520.5:c.540C>G | Morocco | NC_000015.10:g.72353098G>C | Pathogenic | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.28082C>G; NM_000520.5:c.540C>G
; NP_000511.2:p.Tyr180Ter | 121907969 | 3919 |
NM_000520.5:c.571-2A>G | Morocco | NC_000015.10:g.72351236T>C | | | | NG_009017.2:g.29944A>G; NM_000520.5:c.571-2A>G
; NP_000511.2:p.? | | |
NM_000520.5:c.749G>T | Iraq; Lebanon | NC_000015.10:g.72350574C>A | Uncertain Significance | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.30606G>T; NM_000520.5:c.749G>T
; NP_000511.2:p.Gly250Val | 121907959 | 557210 |
NM_000520.5:c.78G>A | Palestine; Saudi Arabi... | NC_000015.10:g.72375895C>T | Pathogenic | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.5285G>A; NM_000520.5:c.78G>A
; NP_000511.2:p.Trp26Ter | 121907964 | 3911 |
NM_000520.5:c.805G>A | Iraq | NC_000015.10:g.72350518C>T | Likely Pathogenic, Pathogenic | Pathogenic | | NG_009017.2:g.30662G>A; NM_000520.5:c.805G>A; NP_000511.2:p.Gly269Ser | 121907954 | 3898 |
NM_000520.5:c.910_912delTTC | Iraq; Morocco | NC_000015.10:g.72349153_72349155del | Likely Pathogenic | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.32030_32032del; NM_000520.5:c.910_912delTTC
; NP_000511.2:p.Phe305del | 121907960 | 188812 |
NM_000520.6:c.2T>C | United Arab Emirates | NC_000015.10:g.72375971A>G | Likely Pathogenic, Pathogenic | Pathogenic | Tay-Sachs Disease | NG_009017.2:g.5209T>C; NM_000520.6:c.2T>C; NP_000511.2:p.Met1Thr | 786204721 | 189126 |