All variants in the SYNJ1 gene

Information The variants shown are described using the NM_003895.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? - c.123G>A r.(=) p.(=) - VUS g.34099201C>T g.32726890C>T - - SYNJ1_000001 - PubMed: Quadri 2013 - rs61750221 Germline - - - 0 - Marialuisa Quadri
+/. - c.164dup r.(?) p.(Pro56ThrfsTer9) - pathogenic g.34099164dup g.32726853dup - - SYNJ1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? - c.242-148A>C r.(=) p.(=) - VUS g.34074505T>G g.32702195T>G - - SYNJ1_000020 - PubMed: Quadri 2013 - rs74625247 Germline - - - 0 - Marialuisa Quadri
?/. - c.282A>G r.(?) p.(Lys94=) - VUS g.34074317T>C g.32702007T>C SYNJ1(NM_203446.2):c.282A>G (p.K94=) - SYNJ1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? - c.328+134A>G r.(=) p.(=) - VUS g.34074137T>C g.32701827T>C - - SYNJ1_000019 - PubMed: Quadri 2013 - rs184110321 Germline - - - 0 - Marialuisa Quadri
?/? - c.596+9A>G r.(=) p.(=) - VUS g.34072139T>C g.32699829T>C - - SYNJ1_000018 - PubMed: Quadri 2013 - rs76502784 Germline - - - 0 - Marialuisa Quadri
-?/. - c.596+9A>G r.(=) p.(=) - likely benign g.34072139T>C g.32699829T>C SYNJ1(NM_003895.3):c.596+9A>G - SYNJ1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.690A>G r.(?) p.(Thr230=) - likely benign g.34067499T>C g.32695189T>C SYNJ1(NM_203446.2):c.690A>G (p.T230=) - SYNJ1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 5 c.773G>A r.(?) p.(Arg258Gln) - pathogenic g.34067416C>T g.32695106C>T - - SYNJ1_000002 - PubMed: Quadri 2013 - - Germline yes - - 0 - Marialuisa Quadri
-?/. - c.822+7A>G r.(=) p.(=) - likely benign g.34067360T>C g.32695050T>C SYNJ1(NM_203446.2):c.822+7A>G - SYNJ1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.823-7dup r.(=) p.(=) - benign g.34066636dup g.32694326dup SYNJ1(NM_203446.2):c.823-7dupT - SYNJ1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? - c.968+43A>G r.(=) p.(=) - VUS g.34060573T>C g.32688263T>C - - SYNJ1_000017 - PubMed: Quadri 2013 - rs73194279 Germline - - - 0 - Marialuisa Quadri
-?/. - c.1000A>C r.(?) p.(Lys334Gln) - likely benign g.34059353T>G - SYNJ1(NM_203446.2):c.1000A>C (p.K334Q) - SYNJ1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? - c.1001A>G r.(?) p.(Lys334Arg) - VUS g.34059352T>C g.32687042T>C - - SYNJ1_000003 - PubMed: Quadri 2013 - rs2254562 Germline - - - 0 - Marialuisa Quadri
-/. - c.1001A>G r.(?) p.(Lys334Arg) - benign g.34059352T>C g.32687042T>C SYNJ1(NM_003895.3):c.1001A>G (p.K334R), SYNJ1(NM_203446.2):c.1001A>G (p.K334R) - SYNJ1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1001A>G r.(?) p.(Lys334Arg) - benign g.34059352T>C g.32687042T>C SYNJ1(NM_003895.3):c.1001A>G (p.K334R), SYNJ1(NM_203446.2):c.1001A>G (p.K334R) - SYNJ1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? - c.1065+81G>A r.(=) p.(=) - VUS g.34059207C>T g.32686897C>T - - SYNJ1_000016 - PubMed: Quadri 2013 - rs844975 Germline - - - 0 - Marialuisa Quadri
?/? - c.1066-38A>C r.(=) p.(=) - VUS g.34058265T>G g.32685955T>G - - SYNJ1_000015 - PubMed: Quadri 2013 - rs143229035 Germline - - - 0 - Marialuisa Quadri
-?/. - c.1147G>A r.(?) p.(Ala383Thr) - likely benign g.34058146C>T - SYNJ1(NM_203446.2):c.1147G>A (p.A383T) - SYNJ1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1235+9G>A r.(=) p.(=) - likely benign g.34058049C>T g.32685739C>T SYNJ1(NM_203446.2):c.1235+9G>A - SYNJ1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? - c.1317+55T>C r.(=) p.(=) - VUS g.34056293A>G g.32683983A>G - - SYNJ1_000046 - PubMed: Quadri 2013 - rs75924460 Germline - - - 0 - Marialuisa Quadri
?/? - c.1317+69T>C r.(=) p.(=) - VUS g.34056279A>G g.32683969A>G - - SYNJ1_000014 - PubMed: Quadri 2013 - rs111884129 Germline - - - 0 - Marialuisa Quadri
?/? - c.1317+273A>G r.(=) p.(=) - VUS g.34056075T>C g.32683765T>C - - SYNJ1_000013 - PubMed: Quadri 2013 - rs73194278 Germline - - - 0 - Marialuisa Quadri
?/? - c.1318-3A>T r.spl? p.? - VUS g.34053961T>A g.32681651T>A - - SYNJ1_000012 - PubMed: Quadri 2013 - rs844988 Germline - - - 0 - Marialuisa Quadri
-/. - c.1318-3A>T r.spl? p.? - benign g.34053961T>A g.32681651T>A SYNJ1(NM_003895.3):c.1318-3A>T, SYNJ1(NM_203446.2):c.1318-3A>T - SYNJ1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1318-3A>T r.spl? p.? - benign g.34053961T>A g.32681651T>A SYNJ1(NM_003895.3):c.1318-3A>T, SYNJ1(NM_203446.2):c.1318-3A>T - SYNJ1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 11 c.1376G>C r.(?) p.(Arg459Pro) - likely pathogenic g.34053900C>G g.32681590C>G 1376missenseG - SYNJ1_000035 variant heterozygous in both parents, not present in 570 control chromosomes tested - - - Germline yes - - 0 - Thelma BK
?/? - c.1470+27C>T r.(=) p.(=) - VUS g.34053779G>A g.32681469G>A - - SYNJ1_000034 - PubMed: Quadri 2013 - rs80299581 Germline - - - 0 - Marialuisa Quadri
-/. - c.1627+13del r.(=) p.(=) - benign g.34050944del g.32678634del SYNJ1(NM_203446.2):c.1627+13delT - SYNJ1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1627+13_1627+15delinsA r.(=) p.(=) - likely benign g.34050940_34050942delinsT g.32678630_32678632delinsT SYNJ1(NM_003895.3):c.1627+13_1627+15delTATinsA - SYNJ1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1627+15del r.(=) p.(=) - benign g.34050940del g.32678630del SYNJ1(NM_203446.2):c.1627+15delT - SYNJ1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/? - c.1628-59T>A r.(=) p.(=) - VUS g.34048724A>T g.32676414A>T - - SYNJ1_000033 - PubMed: Quadri 2013 - rs116389986 Germline - - - 0 - Marialuisa Quadri
-?/. - c.1663G>A r.(?) p.(Val555Ile) - likely benign g.34045830C>T g.32673520C>T SYNJ1(NM_203446.2):c.1663G>A (p.V555I) - SYNJ1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? - c.1928+51A>G r.(=) p.(=) - VUS g.34042547T>C g.32670237T>C - - SYNJ1_000032 - PubMed: Quadri 2013 - rs114386610 Germline - - - 0 - Marialuisa Quadri
?/? - c.1929-100T>C r.(=) p.(=) - VUS g.34038983A>G g.32666673A>G - - SYNJ1_000031 - PubMed: Quadri 2013 - rs844998 Germline - - - 0 - Marialuisa Quadri
-?/. - c.2023G>A r.(?) p.(Val675Ile) - likely benign g.34038789C>T g.32666479C>T SYNJ1(NM_203446.2):c.2023G>A (p.V675I) - SYNJ1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2031G>A r.(?) p.(Leu677=) - likely benign g.34038781C>T g.32666471C>T SYNJ1(NM_203446.2):c.2031G>A (p.L677=) - SYNJ1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2088T>C r.(?) p.(Thr696=) - likely benign g.34038427A>G - SYNJ1(NM_203446.2):c.2088T>C (p.T696=) - SYNJ1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2289T>C r.(?) p.(Tyr763=) - likely benign g.34037355A>G g.32665045A>G SYNJ1(NM_203446.2):c.2289T>C (p.Y763=) - SYNJ1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2318G>A r.(?) p.(Arg773Gln) - VUS g.34037326C>T g.32665016C>T SYNJ1(NM_203446.2):c.2318G>A (p.R773Q) - SYNJ1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2343T>A r.(?) p.(Val781=) - likely benign g.34037301A>T g.32664991A>T SYNJ1(NM_203446.2):c.2343T>A (p.V781=) - SYNJ1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2371G>T r.(?) p.(Asp791Tyr) - VUS g.34037273C>A g.32664963C>A SYNJ1(NM_003895.3):c.2371G>T (p.D791Y), SYNJ1(NM_203446.2):c.2371G>T (p.D791Y) - SYNJ1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2371G>T r.(?) p.(Asp791Tyr) - VUS g.34037273C>A - SYNJ1(NM_003895.3):c.2371G>T (p.D791Y), SYNJ1(NM_203446.2):c.2371G>T (p.D791Y) - SYNJ1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? - c.2422-110T>A r.(=) p.(=) - VUS g.34030292A>T g.32657982A>T - - SYNJ1_000030 - PubMed: Quadri 2013 - - Germline - - - 0 - Marialuisa Quadri
-?/. - c.2463G>A r.(?) p.(Pro821=) - likely benign g.34030141C>T g.32657831C>T SYNJ1(NM_203446.2):c.2463G>A (p.P821=) - SYNJ1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2463G>A r.(?) p.(Pro821=) - likely benign g.34030141C>T g.32657831C>T SYNJ1(NM_203446.2):c.2463G>A (p.P821=) - SYNJ1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2696+10G>A r.(=) p.(=) - likely benign g.34029303C>T g.32656993C>T SYNJ1(NM_203446.2):c.2696+10G>A - SYNJ1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2720T>C r.(?) p.(Ile907Thr) - VUS g.34029189A>G g.32656879A>G SYNJ1(NM_203446.2):c.2720T>C (p.I907T) - SYNJ1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3013A>G r.(?) p.(Ile1005Val) - likely benign g.34022635T>C - SYNJ1(NM_203446.2):c.3013A>G (p.I1005V) - SYNJ1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3060G>T r.(?) p.(Met1020Ile) - likely benign g.34022588C>A g.32650278C>A SYNJ1(NM_203446.2):c.3060G>T (p.M1020I) - SYNJ1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3114T>C r.(?) p.(Leu1038=) - likely benign g.34022534A>G g.32650224A>G SYNJ1(NM_203446.2):c.3114T>C (p.L1038=) - SYNJ1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3239C>G r.(?) p.(Ser1080Cys) - VUS g.34018828G>C - SYNJ1(NM_203446.2):c.3239C>G (p.S1080C) - SYNJ1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? - c.3486A>G r.(=) p.(=) - VUS g.34017978T>C g.32645668T>C - - SYNJ1_000004 - PubMed: Quadri 2013 - - Germline - - - 0 - Marialuisa Quadri
-?/. - c.3486A>G r.(?) p.(Pro1162=) - likely benign g.34017978T>C g.32645668T>C SYNJ1(NM_003895.3):c.3486A>G (p.P1162=), SYNJ1(NM_203446.2):c.3486A>G (p.P1162=) - SYNJ1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3486A>G r.(?) p.(Pro1162=) - likely benign g.34017978T>C - SYNJ1(NM_003895.3):c.3486A>G (p.P1162=), SYNJ1(NM_203446.2):c.3486A>G (p.P1162=) - SYNJ1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? - c.3508+99A>T r.(=) p.(=) - VUS g.34017857T>A g.32645547T>A - - SYNJ1_000029 - PubMed: Quadri 2013 - rs2406 Germline - - - 0 - Marialuisa Quadri
?/? - c.3509-202_3509-199del r.(=) p.(=) - VUS g.34017518_34017521del g.32645208_32645211del - - SYNJ1_000028 - PubMed: Quadri 2013 - rs142688189 Germline - - - 0 - Marialuisa Quadri
?/? - c.3509-129G>T r.(=) p.(=) - VUS g.34017445C>A g.32645135C>A - - SYNJ1_000027 - PubMed: Quadri 2013 - rs189532601 Germline - - - 0 - Marialuisa Quadri
?/? - c.3509-96T>A r.(=) p.(=) - VUS g.34017412A>T g.32645102A>T - - SYNJ1_000026 - PubMed: Quadri 2013 - rs34001349 Germline - - - 0 - Marialuisa Quadri
?/? - c.3596-29T>G r.(=) p.(=) - VUS g.34014472A>C g.32642162A>C - - SYNJ1_000025 - PubMed: Quadri 2013 - - Germline - - - 0 - Marialuisa Quadri
?/? - c.3635-7G>T r.(=) p.(=) - VUS g.34014283C>A g.32641973C>A - - SYNJ1_000024 - PubMed: Quadri 2013 - rs2833929 Germline - - - 0 - Marialuisa Quadri
-/. - c.3635-7G>T r.(=) p.(=) - benign g.34014283C>A g.32641973C>A SYNJ1(NM_003895.3):c.3635-7G>T, SYNJ1(NM_203446.2):c.3635-7G>T - SYNJ1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3635-7G>T r.(=) p.(=) - benign g.34014283C>A g.32641973C>A SYNJ1(NM_003895.3):c.3635-7G>T, SYNJ1(NM_203446.2):c.3635-7G>T - SYNJ1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.3697G>C r.(?) p.(Ala1233Pro) - likely benign g.34014214C>G g.32641904C>G SYNJ1(NM_203446.2):c.3697G>C (p.A1233P) - SYNJ1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? - c.3705+14C>T r.(=) p.(=) - VUS g.34014192G>A g.32641882G>A - - SYNJ1_000023 - PubMed: Quadri 2013 - rs11702774 Germline - - - 0 - Marialuisa Quadri
-/. - c.3705+14C>T r.(=) p.(=) - benign g.34014192G>A g.32641882G>A SYNJ1(NM_003895.3):c.3705+14C>T, SYNJ1(NM_203446.2):c.3705+14C>T - SYNJ1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.3705+14C>T r.(=) p.(=) - benign g.34014192G>A g.32641882G>A SYNJ1(NM_003895.3):c.3705+14C>T, SYNJ1(NM_203446.2):c.3705+14C>T - SYNJ1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? - c.3705+128G>A r.(=) p.(=) - VUS g.34014078C>T g.32641768C>T - - SYNJ1_000022 - PubMed: Quadri 2013 - rs56238975 Germline - - - 0 - Marialuisa Quadri
-?/. - c.3707C>T r.(?) p.(Thr1236Met) - likely benign g.34012088G>A g.32639778G>A SYNJ1(NM_203446.2):c.3707C>T (p.T1236M) - SYNJ1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3707C>T r.(?) p.(Thr1236Met) - likely benign g.34012088G>A g.32639778G>A SYNJ1(NM_203446.2):c.3707C>T (p.T1236M) - SYNJ1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? - c.3755G>A r.(?) p.(Arg1252Gln) - VUS g.34012040C>T g.32639730C>T - - SYNJ1_000005 - PubMed: Quadri 2013 - - Germline - - - 0 - Marialuisa Quadri
?/? - c.3815-251G>C r.(=) p.(=) - VUS g.34011686C>G g.32639376C>G - - SYNJ1_000021 - PubMed: Quadri 2013 - rs147026277 Germline - - - 0 - Marialuisa Quadri
?/? - c.3838C>T r.(=) p.(=) - VUS g.34011412G>A g.32639102G>A - - SYNJ1_000006 - PubMed: Quadri 2013 - - Germline - - - 0 - Marialuisa Quadri
-/. - c.3838C>T r.(?) p.(Leu1280=) - benign g.34011412G>A g.32639102G>A SYNJ1(NM_003895.3):c.3838C>T (p.L1280=), SYNJ1(NM_203446.2):c.3838C>T (p.L1280=) - SYNJ1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.3838C>T r.(?) p.(Leu1280=) - benign g.34011412G>A g.32639102G>A SYNJ1(NM_003895.3):c.3838C>T (p.L1280=), SYNJ1(NM_203446.2):c.3838C>T (p.L1280=) - SYNJ1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3879C>T r.(?) p.(Pro1293=) - likely benign g.34011371G>A g.32639061G>A SYNJ1(NM_003895.3):c.3879C>T (p.P1293=) - SYNJ1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3882G>A r.(?) p.(Pro1294=) - likely benign g.34011368C>T g.32639058C>T SYNJ1(NM_203446.2):c.3882G>A (p.P1294=) - SYNJ1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4033G>A r.(?) p.(Val1345Ile) - likely benign g.34004111C>T g.32631801C>T SYNJ1(NM_003895.3):c.4033G>A (p.V1345I) - SYNJ1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? - c.4215_4216insAATACT r.(?) p.(Val1405_Leu1406insAsnThr) - VUS g.34003929_34003930insGTATTA g.32631619_32631620insGTATTA - - SYNJ1_000007 - PubMed: Quadri 2013 - rs71640263 Germline - - - 0 - Marialuisa Quadri
-/. - c.4215_4216insAATACT r.(?) p.(Val1405_Leu1406insAsnThr) - benign g.34003929_34003930insGTATTA g.32631619_32631620insGTATTA SYNJ1(NM_003895.3):c.4215_4216insAATACT (p.V1405_L1406insNT) - SYNJ1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4215_4216insAATACT r.(?) p.(Val1405_Leu1406insAsnThr) - benign g.34003929_34003930insGTATTA g.32631619_32631620insGTATTA SYNJ1(NM_003895.3):c.4215_4216insAATACT (p.V1405_L1406insNT) - SYNJ1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/? - c.4264A>C r.(?) p.(Ser1422Arg) - VUS g.34003880T>G g.32631570T>G - - SYNJ1_000008 - PubMed: Quadri 2013 - - Germline - - - 0 - Marialuisa Quadri
?/? - c.4286G>A r.(?) p.(Arg1429Gln) - VUS g.34003858C>T g.32631548C>T - - SYNJ1_000009 - PubMed: Quadri 2013 - rs112469776 Germline - - - 0 - Marialuisa Quadri
-?/. - c.4307T>G r.(?) p.(Ile1436Ser) - likely benign g.34003837A>C g.32631527A>C SYNJ1(NM_003895.3):c.4307T>G (p.I1436S) - SYNJ1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.4307T>G r.(?) p.(Ile1436Ser) - VUS g.34003837A>C g.32631527A>C SYNJ1(NM_003895.3):c.4307T>G (p.I1436S) - SYNJ1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? - c.4358G>A r.(?) p.(Gly1453Glu) - VUS g.34003786C>T g.32631476C>T - - SYNJ1_000010 - PubMed: Quadri 2013 - rs61750217 Germline - - - 0 - Marialuisa Quadri
-?/. - c.4358G>A r.(?) p.(Gly1453Glu) - likely benign g.34003786C>T g.32631476C>T SYNJ1(NM_003895.3):c.4358G>A (p.G1453E) - SYNJ1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.4358G>A r.(?) p.(Gly1453Glu) - benign g.34003786C>T g.32631476C>T - - SYNJ1_000010 107 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61750217 Germline - 107/2793 individuals - 0 - Mohammed Faruq
-?/. - c.4429A>G r.(?) p.(Ile1477Val) - likely benign g.34003715T>C g.32631405T>C SYNJ1(NM_003895.3):c.4429A>G (p.I1477V) - SYNJ1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? - c.4581G>A r.(=) p.(=) - VUS g.34003563C>T g.32631253C>T - - SYNJ1_000011 - PubMed: Quadri 2013 - rs146425050 Germline - - - 0 - Marialuisa Quadri
-?/. - c.4581G>A r.(?) p.(Glu1527=) - likely benign g.34003563C>T g.32631253C>T SYNJ1(NM_003895.3):c.4581G>A (p.E1527=) - SYNJ1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.4581G>A r.(?) p.(Glu1527=) - likely benign g.34003563C>T g.32631253C>T SYNJ1(NM_003895.3):c.4581G>A (p.E1527=) - SYNJ1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.4757C>T r.(?) p.(Pro1586Leu) - likely benign g.34003387G>A - SYNJ1(NM_003895.3):c.4757C>T (p.P1586L) - SYNJ1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query