Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000021.8:g.(?_32439271)_(37133458_?)dup | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001338842; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 32439271 | 37133458 | na | na | -1 | - | | |
NC_000021.8:g.(?_33974153)_(34074377_?)dup | 8867 | SYNJ1 | Uncertain significance | -1 | RCV000708396; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 33974153 | 34074377 | na | na | | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NC_000021.9:g.(?_32601843)_(32634904_?)dup | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001033655; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 33974153 | 34007214 | na | na | -1 | - | | |
NC_000021.8:g.(?_34000069)_(34101351_?)dup | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001033279; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34000069 | 34101351 | na | na | -1 | - | | |
NM_203446.3(SYNJ1):c.*807A>G | 8867 | SYNJ1 | Uncertain significance | rs2039296175 | RCV001064670; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003308 | 34003308 | T | C | 21:g.34003308T>C | - | | |
NM_203446.3(SYNJ1):c.*806G>A | 8867 | SYNJ1 | Uncertain significance | rs772562248 | RCV001224896; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003309 | 34003309 | C | T | 21:g.34003309C>T | - | | |
NM_203446.3(SYNJ1):c.*806G>C | 8867 | SYNJ1 | Uncertain significance | rs772562248 | RCV001238755; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003309 | 34003309 | C | G | 21:g.34003309C>G | - | | |
NM_203446.3(SYNJ1):c.*798T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002214008; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003317 | 34003317 | A | G | 34003317 | - | | |
NM_203446.3(SYNJ1):c.*797T>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001991549; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003318 | 34003318 | A | T | 34003318 | - | | |
NM_203446.3(SYNJ1):c.*793G>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001886069; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003322 | 34003322 | C | A | 34003322 | - | | |
NM_203446.3(SYNJ1):c.*770C>T | 8867 | SYNJ1 | Uncertain significance | rs2039298283 | RCV001070167; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003345 | 34003345 | G | A | 21:g.34003345G>A | - | | |
NM_203446.3(SYNJ1):c.*767T>G | 8867 | SYNJ1 | Uncertain significance | rs764949465 | RCV000791696; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003348 | 34003348 | A | C | 21:g.34003348A>C | - | | |
NM_203446.3(SYNJ1):c.*763A>G | 8867 | SYNJ1 | Uncertain significance | rs778073626 | RCV001240169; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003352 | 34003352 | T | C | 21:g.34003352T>C | - | | |
NM_203446.3(SYNJ1):c.*762G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002107699; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003353 | 34003353 | C | T | 34003353 | - | | |
NM_203446.3(SYNJ1):c.*761C>T | 8867 | SYNJ1 | Likely benign | rs111516740 | RCV000558151; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003354 | 34003354 | G | A | NC_000021.8:g.34003354G>A | ClinGen:CA10003043 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*755C>T | 8867 | SYNJ1 | Uncertain significance | rs2039299981 | RCV001341387; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003360 | 34003360 | G | A | 34003360 | - | | |
NM_203446.3(SYNJ1):c.*753T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV001504834; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003362 | 34003362 | A | G | 34003362 | - | | |
NM_203446.3(SYNJ1):c.*741C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001415574; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003374 | 34003374 | G | A | 34003374 | - | | |
NM_203446.3(SYNJ1):c.*738C>T | 8867 | SYNJ1 | Likely benign | rs747245690 | RCV000655785; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003377 | 34003377 | G | A | 21:g.34003377G>A | ClinGen:CA10003049 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*737C>G | 8867 | SYNJ1 | Uncertain significance | rs746226206 | RCV001220175; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003378 | 34003378 | G | C | 21:g.34003378G>C | - | | |
NM_203446.3(SYNJ1):c.*733G>A | 8867 | SYNJ1 | Uncertain significance | rs758953009 | RCV001217726; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003382 | 34003382 | C | T | 21:g.34003382C>T | - | | |
NM_203446.3(SYNJ1):c.*732C>T | 8867 | SYNJ1 | Benign | rs148676465 | RCV000964602; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003383 | 34003383 | G | A | 21:g.34003383G>A | - | | |
NM_203446.3(SYNJ1):c.*729G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV001418553; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003386 | 34003386 | C | T | 34003386 | - | | |
NM_203446.3(SYNJ1):c.*728C>T | 8867 | SYNJ1 | Likely benign | rs2230767 | RCV000713734|RCV001084764; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003387 | 34003387 | G | A | NC_000021.8:g.34003387G>A | ClinGen:CA10003055 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*719CT[1] | 8867 | SYNJ1 | Uncertain significance | rs1236484854 | RCV001228026; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003393 | 34003394 | CAG | C | 21:g.34003393_34003394del | - | | |
NM_203446.3(SYNJ1):c.*721C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002144213; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003394 | 34003394 | G | A | 34003394 | - | | |
NM_203446.3(SYNJ1):c.*720T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002175334; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003395 | 34003395 | A | G | 34003395 | - | | |
NM_203446.3(SYNJ1):c.*712C>T | 8867 | SYNJ1 | Uncertain significance | rs2039303366 | RCV001059547; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003403 | 34003403 | G | A | 21:g.34003403G>A | - | | |
NM_203446.3(SYNJ1):c.*709C>T | 8867 | SYNJ1 | Uncertain significance | rs912535820 | RCV001223989; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003406 | 34003406 | G | A | 21:g.34003406G>A | - | | |
NM_203446.3(SYNJ1):c.*707C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001895151; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003408 | 34003408 | G | A | 34003408 | - | | |
NM_203446.3(SYNJ1):c.*704C>G | 8867 | SYNJ1 | Uncertain significance | rs367591704 | RCV001225929; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003411 | 34003411 | G | C | 21:g.34003411G>C | - | | |
NM_203446.3(SYNJ1):c.*690G>A | 8867 | SYNJ1 | Benign | -1 | RCV001521869; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003425 | 34003425 | C | T | 34003425 | - | | |
NM_203446.3(SYNJ1):c.*689C>T | 8867 | SYNJ1 | Uncertain significance | rs766938091 | RCV001215449; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003426 | 34003426 | G | A | 21:g.34003426G>A | - | | |
NM_203446.3(SYNJ1):c.*677_*679del | 8867 | SYNJ1 | Likely benign | rs528030561 | RCV000879439; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003436 | 34003438 | CAGA | C | 21:g.34003436_34003438del | - | | |
NM_203446.3(SYNJ1):c.*679T>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001883866; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003436 | 34003436 | A | T | 34003436 | - | | |
NM_203446.3(SYNJ1):c.*678C>G | 8867 | SYNJ1 | Uncertain significance | rs760299495 | RCV000820638; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003437 | 34003437 | G | C | 21:g.34003437G>C | - | | |
NM_203446.3(SYNJ1):c.*676T>C | 8867 | SYNJ1 | Uncertain significance | rs2039305600 | RCV001214034; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003439 | 34003439 | A | G | 21:g.34003439A>G | - | | |
NM_203446.3(SYNJ1):c.*668A>C | 8867 | SYNJ1 | Uncertain significance | rs2039305821 | RCV001325874; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003447 | 34003447 | T | G | 34003447 | - | | |
NM_203446.3(SYNJ1):c.*666A>G | 8867 | SYNJ1 | Uncertain significance | rs763776246 | RCV000813890; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003449 | 34003449 | T | C | 21:g.34003449T>C | - | | |
NM_203446.3(SYNJ1):c.*665C>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001489826; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003450 | 34003450 | G | C | 34003450 | - | | |
NM_203446.3(SYNJ1):c.*644A>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001959462; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003471 | 34003471 | T | C | 34003471 | - | | |
NM_203446.3(SYNJ1):c.*643A>C | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002010050; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003472 | 34003472 | T | G | 34003472 | - | | |
NM_203446.3(SYNJ1):c.*641dup | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002050087; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003473 | 34003474 | C | CA | 34003473 | - | | |
NM_203446.3(SYNJ1):c.*638C>T | 8867 | SYNJ1 | Uncertain significance | rs755473642 | RCV001056699; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003477 | 34003477 | G | A | 21:g.34003477G>A | - | | |
NM_203446.3(SYNJ1):c.*633C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001413824; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003482 | 34003482 | G | A | 34003482 | - | | |
NM_203446.3(SYNJ1):c.*628T>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002047864; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003487 | 34003487 | A | T | 34003487 | - | | |
NM_203446.3(SYNJ1):c.*618A>G | 8867 | SYNJ1 | Likely benign | rs139212871 | RCV000946037; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003497 | 34003497 | T | C | 21:g.34003497T>C | - | | |
NM_203446.3(SYNJ1):c.*613A>G | 8867 | SYNJ1 | Uncertain significance | rs769954720 | RCV000694869; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003502 | 34003502 | T | C | 21:g.34003502T>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*613A>C | 8867 | SYNJ1 | Uncertain significance | rs769954720 | RCV001229156; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003502 | 34003502 | T | G | 21:g.34003502T>G | - | | |
NM_203446.3(SYNJ1):c.*611C>T | 8867 | SYNJ1 | Benign/Likely benign | rs76056543 | RCV000713733|RCV001082702; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003504 | 34003504 | G | A | NC_000021.8:g.34003504G>A | ClinGen:CA10003077 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*602G>A | 8867 | SYNJ1 | Uncertain significance | rs375352780 | RCV001223988; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003513 | 34003513 | C | T | 21:g.34003513C>T | - | | |
NM_203446.3(SYNJ1):c.*598C>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001368581; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003517 | 34003517 | G | T | 34003517 | - | | |
NM_203446.3(SYNJ1):c.*594C>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001976632; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003521 | 34003521 | G | C | 34003521 | - | | |
NM_203446.3(SYNJ1):c.*576_*584del | 8867 | SYNJ1 | Uncertain significance | rs769088554 | RCV001037484; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003531 | 34003539 | AGCTGACTTT | A | 21:g.34003531_34003539del | - | | |
NM_203446.3(SYNJ1):c.*574T>A | 8867 | SYNJ1 | Uncertain significance | rs138122167 | RCV000552863; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003541 | 34003541 | A | T | NC_000021.8:g.34003541A>T | ClinGen:CA319449810 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*560del | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001907520; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003555 | 34003555 | AC | A | 34003554 | - | | |
NM_203446.3(SYNJ1):c.*552G>A | 8867 | SYNJ1 | Likely benign | rs146425050 | RCV000544822|RCV001171960; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34003563 | 34003563 | C | T | NC_000021.8:g.34003563C>T | ClinGen:CA10003094 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*541G>A | 8867 | SYNJ1 | Uncertain significance | rs770188528 | RCV001235644; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003574 | 34003574 | C | T | 21:g.34003574C>T | - | | |
NM_203446.3(SYNJ1):c.*540C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001442361; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003575 | 34003575 | G | A | 34003575 | - | | |
NM_203446.3(SYNJ1):c.*536C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001931994; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003579 | 34003579 | G | A | 34003579 | - | | |
NM_203446.3(SYNJ1):c.*530G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002020481; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003585 | 34003585 | C | T | 34003585 | - | | |
NM_203446.3(SYNJ1):c.*526G>A | 8867 | SYNJ1 | Uncertain significance | rs1304102538 | RCV001302128; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003589 | 34003589 | C | T | 34003589 | - | | |
NM_203446.3(SYNJ1):c.*522G>A | 8867 | SYNJ1 | Likely benign | rs777945782 | RCV000532497; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003593 | 34003593 | C | T | NC_000021.8:g.34003593C>T | ClinGen:CA10003097 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*521C>G | 8867 | SYNJ1 | Uncertain significance | rs749527882 | RCV000655769; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003594 | 34003594 | G | C | NC_000021.8:g.34003594G>C | ClinGen:CA10003099 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*521C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001867828; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003594 | 34003594 | G | A | 34003594 | - | | |
NM_203446.3(SYNJ1):c.*519C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002189270; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003596 | 34003596 | G | A | 34003596 | - | | |
NM_203446.3(SYNJ1):c.*513T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002145561; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003602 | 34003602 | A | G | 34003602 | - | | |
NM_203446.3(SYNJ1):c.*491A>C | 8867 | SYNJ1 | Uncertain significance | rs776115769 | RCV000801905; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003624 | 34003624 | T | G | 21:g.34003624T>G | - | | |
NM_203446.3(SYNJ1):c.*485A>T | 8867 | SYNJ1 | Uncertain significance | rs764848521 | RCV001241242; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003630 | 34003630 | T | A | 21:g.34003630T>A | - | | |
NM_203446.3(SYNJ1):c.*482T>C | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002016075; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003633 | 34003633 | A | G | 34003633 | - | | |
NM_203446.3(SYNJ1):c.*474G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002030468; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003641 | 34003641 | C | T | 34003641 | - | | |
NM_203446.3(SYNJ1):c.*469T>C | 8867 | SYNJ1 | Uncertain significance | rs753264526 | RCV001218963; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003646 | 34003646 | A | G | 21:g.34003646A>G | - | | |
NM_203446.3(SYNJ1):c.*459A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001393712; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003656 | 34003656 | T | C | 34003656 | - | | |
NM_203446.3(SYNJ1):c.*449C>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001891146; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003666 | 34003666 | G | T | 34003666 | - | | |
NM_203446.3(SYNJ1):c.*443G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV001487588; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003672 | 34003672 | C | T | 34003672 | - | | |
NM_203446.3(SYNJ1):c.*442A>G | 8867 | SYNJ1 | Uncertain significance | rs1443131725 | RCV001069861; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003673 | 34003673 | T | C | 21:g.34003673T>C | - | | |
NM_203446.3(SYNJ1):c.*431G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001987957; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003684 | 34003684 | C | T | 34003684 | - | | |
NM_203446.3(SYNJ1):c.*412C>G | 8867 | SYNJ1 | Uncertain significance | rs1012542243 | RCV001235592; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003703 | 34003703 | G | C | 21:g.34003703G>C | - | | |
NM_203446.3(SYNJ1):c.*411C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001459697; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003704 | 34003704 | G | A | 34003704 | - | | |
NM_203446.3(SYNJ1):c.*396T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV001445567; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003719 | 34003719 | A | G | 34003719 | - | | |
NM_203446.3(SYNJ1):c.*393C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001445398; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003722 | 34003722 | G | A | 34003722 | - | | |
NM_203446.3(SYNJ1):c.*390G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002162875; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003725 | 34003725 | C | T | 34003725 | - | | |
NM_203446.3(SYNJ1):c.*388G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001971774; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003727 | 34003727 | C | T | 34003727 | - | | |
NM_203446.3(SYNJ1):c.*367A>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001968526; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003748 | 34003748 | T | C | 34003748 | - | | |
NM_203446.3(SYNJ1):c.*347A>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001974115; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003768 | 34003768 | T | C | 34003768 | - | | |
NM_203446.3(SYNJ1):c.*333C>T | 8867 | SYNJ1 | Likely benign | rs548047319 | RCV000901758; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003782 | 34003782 | G | A | 21:g.34003782G>A | - | | |
NM_203446.3(SYNJ1):c.*329G>A | 8867 | SYNJ1 | Benign | rs61750217 | RCV000556286|RCV000713732; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34003786 | 34003786 | C | T | NC_000021.8:g.34003786C>T | ClinGen:CA10003130 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*320C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002014716; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003795 | 34003795 | G | A | 34003795 | - | | |
NM_203446.3(SYNJ1):c.*319G>C | 8867 | SYNJ1 | Uncertain significance | rs565075239 | RCV001324878; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003796 | 34003796 | C | G | 34003796 | - | | |
NM_203446.3(SYNJ1):c.*316del | 8867 | SYNJ1 | Uncertain significance | rs1569014970 | RCV000692154; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003799 | 34003799 | GT | G | 21:g.34003799_34003799del | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*315G>A | 8867 | SYNJ1 | Benign/Likely benign | rs145347648 | RCV000655783|RCV001569990; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN517202 | 21 | 34003800 | 34003800 | C | T | 21:g.34003800C>T | ClinGen:CA10003133 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*312C>T | 8867 | SYNJ1 | Likely benign | rs149199429 | RCV000655775; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003803 | 34003803 | G | A | NC_000021.8:g.34003803G>A | ClinGen:CA10003134 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*309T>G | 8867 | SYNJ1 | Uncertain significance | rs750670440 | RCV001323641; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003806 | 34003806 | A | C | 34003806 | - | | |
NM_203446.3(SYNJ1):c.*303T>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001461997; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003812 | 34003812 | A | C | 34003812 | - | | |
NM_203446.3(SYNJ1):c.*295A>G | 8867 | SYNJ1 | Uncertain significance | rs2039325513 | RCV001346312; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003820 | 34003820 | T | C | 34003820 | - | | |
NM_203446.3(SYNJ1):c.*284G>C | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001903355; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003831 | 34003831 | C | G | 34003831 | - | | |
NM_203446.3(SYNJ1):c.*278T>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001938799|RCV002074441; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34003837 | 34003837 | A | C | 34003837 | - | | |
NM_203446.3(SYNJ1):c.*277A>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001982576; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003838 | 34003838 | T | C | 34003838 | - | | |
NM_203446.3(SYNJ1):c.*276del | 8867 | SYNJ1 | Uncertain significance | rs1324658792 | RCV001306876; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003839 | 34003839 | TA | T | 34003838 | - | | |
NM_203446.3(SYNJ1):c.*270C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001441980; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003845 | 34003845 | G | A | 34003845 | - | | |
NM_203446.3(SYNJ1):c.*265C>A | 8867 | SYNJ1 | Uncertain significance | rs769312346 | RCV001349070; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003850 | 34003850 | G | T | 34003850 | - | | |
NM_203446.3(SYNJ1):c.*257G>T | 8867 | SYNJ1 | Uncertain significance | rs112469776 | RCV000811994; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003858 | 34003858 | C | A | 21:g.34003858C>A | - | | |
NM_203446.3(SYNJ1):c.*257G>A | 8867 | SYNJ1 | Uncertain significance | rs112469776 | RCV001323724; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003858 | 34003858 | C | T | 34003858 | - | | |
NM_203446.3(SYNJ1):c.*256C>T | 8867 | SYNJ1 | Uncertain significance | rs565341830 | RCV001052068; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003859 | 34003859 | G | A | 21:g.34003859G>A | - | | |
NM_203446.3(SYNJ1):c.*255G>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001913763; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003860 | 34003860 | C | A | 34003860 | - | | |
NM_203446.3(SYNJ1):c.*253A>G | 8867 | SYNJ1 | Uncertain significance | rs1398328287 | RCV000791575; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003862 | 34003862 | T | C | 21:g.34003862T>C | - | | |
NM_203446.3(SYNJ1):c.*251A>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001939982; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003864 | 34003864 | T | A | 34003864 | - | | |
NM_203446.3(SYNJ1):c.*227_*244dup | 8867 | SYNJ1 | Uncertain significance | rs1332100317 | RCV001312315; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003870 | 34003871 | T | TGGGATTGACTCCGAGCTG | 34003870 | - | | |
NM_203446.3(SYNJ1):c.*235A>C | 8867 | SYNJ1 | Uncertain significance | rs769099271 | RCV001067626; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003880 | 34003880 | T | G | 21:g.34003880T>G | - | | |
NM_203446.3(SYNJ1):c.*234G>T | 8867 | SYNJ1 | Likely benign | rs777299829 | RCV000538312; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003881 | 34003881 | C | A | 21:g.34003881C>A | ClinGen:CA10003149 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*233G>A | 8867 | SYNJ1 | Uncertain significance | rs765410501 | RCV000818809; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003882 | 34003882 | C | T | 21:g.34003882C>T | - | | |
NM_203446.3(SYNJ1):c.*232C>T | 8867 | SYNJ1 | Uncertain significance | rs373563239 | RCV001288851|RCV001871723; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003883 | 34003883 | G | A | 34003883 | - | | |
NM_203446.3(SYNJ1):c.*223A>G | 8867 | SYNJ1 | Likely benign | rs113978322 | RCV000525739; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003892 | 34003892 | T | C | NC_000021.8:g.34003892T>C | ClinGen:CA10003154 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*212C>T | 8867 | SYNJ1 | Uncertain significance | rs754791304 | RCV000690136; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003903 | 34003903 | G | A | NC_000021.8:g.34003903G>A | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*195T>G | 8867 | SYNJ1 | Uncertain significance | rs1323976540 | RCV001348689; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003920 | 34003920 | A | C | 34003920 | - | | |
NM_203446.3(SYNJ1):c.*195T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002136205; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003920 | 34003920 | A | G | 34003920 | - | | |
NM_203446.3(SYNJ1):c.*188T>C | 8867 | SYNJ1 | Uncertain significance | rs866258846 | RCV000655749; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003927 | 34003927 | A | G | NC_000021.8:g.34003927A>G | ClinGen:CA319450227 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*186_*187insAATAC | 8867 | SYNJ1 | Benign | rs869265580 | RCV000655773; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003928 | 34003929 | A | AGTATT | NC_000021.8:g.34003928_34003929insGTATT | ClinGen:CA10003163 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*186_*187insAATACT | 8867 | SYNJ1 | Benign | rs57257560 | RCV000713731|RCV001522159|RCV001579732|RCV001815378|RCV001815474; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN169374|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:6173 | 21 | 34003928 | 34003929 | A | AAGTATT | NC_000021.8:g.34003929_34003930insGTATTA | - | | |
NM_203446.3(SYNJ1):c.*186_*187insATTACT | 8867 | SYNJ1 | Uncertain significance | rs57257560 | RCV001049561; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003928 | 34003929 | A | AAGTAAT | 21:g.34003928_34003929insAGTAAT | - | | |
NM_203446.3(SYNJ1):c.*187T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV001447509; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003928 | 34003928 | A | G | 34003928 | - | | |
NM_203446.3(SYNJ1):c.*182A>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001956829; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003933 | 34003933 | T | C | 34003933 | - | | |
NM_203446.3(SYNJ1):c.*174G>A | 8867 | SYNJ1 | Likely benign | rs745464855 | RCV000935760|RCV002068686; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003941 | 34003941 | C | T | 21:g.34003941C>T | - | | |
NM_203446.3(SYNJ1):c.*173C>T | 8867 | SYNJ1 | Uncertain significance | rs1341548536 | RCV000554414; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003942 | 34003942 | G | A | 21:g.34003942G>A | ClinGen:CA410082740 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*158A>G | 8867 | SYNJ1 | Uncertain significance | rs1340359289 | RCV001221067; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003957 | 34003957 | T | C | 21:g.34003957T>C | - | | |
NM_203446.3(SYNJ1):c.*152T>C | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002006389; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003963 | 34003963 | A | G | 34003963 | - | | |
NM_203446.3(SYNJ1):c.*148A>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002159504; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003967 | 34003967 | T | G | 34003967 | - | | |
NM_203446.3(SYNJ1):c.*132C>A | 8867 | SYNJ1 | Likely benign | -1 | RCV001449292; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003983 | 34003983 | G | T | 34003983 | - | | |
NM_203446.3(SYNJ1):c.*127G>C | 8867 | SYNJ1 | Uncertain significance | rs1342453394 | RCV000820012; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34003988 | 34003988 | C | G | 21:g.34003988C>G | - | | |
NM_203446.3(SYNJ1):c.*124C>T | 8867 | SYNJ1 | Uncertain significance | rs770180376 | RCV001209325; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003991 | 34003991 | G | A | 21:g.34003991G>A | - | | |
NM_203446.3(SYNJ1):c.*120G>A | 8867 | SYNJ1 | Likely benign | rs377721268 | RCV000878186|RCV001459059; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003995 | 34003995 | C | T | 21:g.34003995C>T | - | | |
NM_203446.3(SYNJ1):c.*119C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001362047; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34003996 | 34003996 | G | A | 34003996 | - | | |
NM_203446.3(SYNJ1):c.*110C>T | 8867 | SYNJ1 | Uncertain significance | rs959757570 | RCV001322931; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004005 | 34004005 | G | A | 34004005 | - | | |
NM_203446.3(SYNJ1):c.*109T>C | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002018770; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004006 | 34004006 | A | G | 34004006 | - | | |
NM_203446.3(SYNJ1):c.*108A>G | 8867 | SYNJ1 | Likely benign | rs371381727 | RCV000983377; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34004007 | 34004007 | T | C | 21:g.34004007T>C | - | | |
NM_203446.3(SYNJ1):c.*100G>T | 8867 | SYNJ1 | Uncertain significance | rs2039335923 | RCV001227067; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34004015 | 34004015 | C | A | 21:g.34004015C>A | - | | |
NM_203446.3(SYNJ1):c.*89C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001369313; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34004026 | 34004026 | G | A | 34004026 | - | | |
NM_203446.3(SYNJ1):c.*88G>C | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001359311; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004027 | 34004027 | C | G | 34004027 | - | | |
NM_203446.3(SYNJ1):c.*75A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001483430; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004040 | 34004040 | T | C | 34004040 | - | | |
NM_203446.3(SYNJ1):c.*60A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001479143; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34004055 | 34004055 | T | C | 34004055 | - | | |
NM_203446.3(SYNJ1):c.*60A>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002075352; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004055 | 34004055 | T | G | 34004055 | - | | |
NM_203446.3(SYNJ1):c.*41C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001878084; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004074 | 34004074 | G | A | 34004074 | - | | |
NM_203446.3(SYNJ1):c.*21C>A | 8867 | SYNJ1 | Likely benign | -1 | RCV001423818; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004094 | 34004094 | G | T | 34004094 | - | | |
NM_203446.3(SYNJ1):c.*14A>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001993107; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004101 | 34004101 | T | C | 34004101 | - | | |
NM_203446.3(SYNJ1):c.*9A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001463098; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34004106 | 34004106 | T | C | 34004106 | - | | |
NM_203446.3(SYNJ1):c.*4G>A | 8867 | SYNJ1 | Likely benign | rs115648918 | RCV000541804|RCV001584365; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34004111 | 34004111 | C | T | NC_000021.8:g.34004111C>T | ClinGen:CA10003187 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.*4-17C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002149621; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34004128 | 34004128 | G | A | 34004128 | - | | |
NM_203446.3(SYNJ1):c.3915+10A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001400871; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011208 | 34011208 | T | C | 34011208 | - | | |
NM_203446.3(SYNJ1):c.3915+7C>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001460872; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011211 | 34011211 | G | C | 34011211 | - | | |
NM_203446.3(SYNJ1):c.3915+5G>T | 8867 | SYNJ1 | Benign | rs61750220 | RCV000713730|RCV001079280; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011213 | 34011213 | C | A | NC_000021.8:g.34011213C>A | ClinGen:CA10003221 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3915+5G>A | 8867 | SYNJ1 | Uncertain significance | rs61750220 | RCV001059422; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011213 | 34011213 | C | T | 21:g.34011213C>T | - | | |
NM_203446.3(SYNJ1):c.3912G>A (p.Pro1304=) | 8867 | SYNJ1 | Likely benign | rs372695378 | RCV000655784; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011221 | 34011221 | C | T | NC_000021.8:g.34011221C>T | ClinGen:CA10003223 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3912G>T (p.Pro1304=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001396978; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011221 | 34011221 | C | A | 34011221 | - | | |
NM_203446.3(SYNJ1):c.3908A>G (p.Gln1303Arg) | 8867 | SYNJ1 | Uncertain significance | rs546986773 | RCV000655759; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011225 | 34011225 | T | C | 21:g.34011225T>C | ClinGen:CA10003226 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3882T>G (p.His1294Gln) | 8867 | SYNJ1 | Uncertain significance | rs1569025711 | RCV000699190; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011251 | 34011251 | A | C | 21:g.34011251A>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3879C>G (p.Ser1293=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001498551; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011254 | 34011254 | G | C | 34011254 | - | | |
NM_203446.3(SYNJ1):c.3873G>T (p.Arg1291Ser) | 8867 | SYNJ1 | Uncertain significance | rs141669628 | RCV001323010; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011260 | 34011260 | C | A | 34011260 | - | | |
NM_203446.3(SYNJ1):c.3866G>C (p.Arg1289Pro) | 8867 | SYNJ1 | Uncertain significance | rs780038881 | RCV001315365; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011267 | 34011267 | C | G | 34011267 | - | | |
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001390943; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011268 | 34011268 | G | A | 34011268 | - | | |
NM_203446.3(SYNJ1):c.3840G>A (p.Leu1280=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002073643; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011293 | 34011293 | C | T | 34011293 | - | | |
NM_203446.3(SYNJ1):c.3837T>A (p.Asn1279Lys) | 8867 | SYNJ1 | Uncertain significance | rs1555888329 | RCV000655764; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011296 | 34011296 | A | T | 21:g.34011296A>T | ClinGen:CA410086736 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3832C>A (p.Pro1278Thr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001365779; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011301 | 34011301 | G | T | 34011301 | - | | |
NM_203446.3(SYNJ1):c.3829dup (p.Gln1277fs) | 8867 | SYNJ1 | Uncertain significance | rs1555888341 | RCV000655760; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011303 | 34011304 | T | TG | NC_000021.8:g.34011308dup | ClinGen:CA658799407 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3827C>G (p.Pro1276Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002010294; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011306 | 34011306 | G | C | 34011306 | - | | |
NM_203446.3(SYNJ1):c.3823G>A (p.Gly1275Ser) | 8867 | SYNJ1 | Uncertain significance | rs1601231173 | RCV000815572; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011310 | 34011310 | C | T | 21:g.34011310C>T | - | | |
NM_203446.3(SYNJ1):c.3811A>G (p.Met1271Val) | 8867 | SYNJ1 | Uncertain significance | rs751069566 | RCV000655758; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011322 | 34011322 | T | C | 21:g.34011322T>C | ClinGen:CA10003243 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3807A>C (p.Ala1269=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001472147; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011326 | 34011326 | T | G | 34011326 | - | | |
NM_203446.3(SYNJ1):c.3806C>G (p.Ala1269Gly) | 8867 | SYNJ1 | Uncertain significance | rs2039705571 | RCV001348509; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011327 | 34011327 | G | C | 34011327 | - | | |
NM_203446.3(SYNJ1):c.3803C>T (p.Ala1268Val) | 8867 | SYNJ1 | Uncertain significance | rs1601231363 | RCV000813037; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011330 | 34011330 | G | A | 21:g.34011330G>A | - | | |
NM_203446.3(SYNJ1):c.3797C>G (p.Pro1266Arg) | 8867 | SYNJ1 | Uncertain significance | rs767170641 | RCV000699952; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011336 | 34011336 | G | C | 21:g.34011336G>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3796C>T (p.Pro1266Ser) | 8867 | SYNJ1 | Uncertain significance | rs2039706224 | RCV001315226; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011337 | 34011337 | G | A | 34011337 | - | | |
NM_203446.3(SYNJ1):c.3788C>G (p.Pro1263Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001887847; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011345 | 34011345 | G | C | 34011345 | - | | |
NM_203446.3(SYNJ1):c.3786G>A (p.Glu1262=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001460454; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011347 | 34011347 | C | T | 34011347 | - | | |
NM_203446.3(SYNJ1):c.3783A>G (p.Gln1261=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001459674; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011350 | 34011350 | T | C | 34011350 | - | | |
NM_203446.3(SYNJ1):c.3780G>T (p.Leu1260Phe) | 8867 | SYNJ1 | Uncertain significance | rs758900160 | RCV001203719; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011353 | 34011353 | C | A | 21:g.34011353C>A | - | | |
NM_203446.3(SYNJ1):c.3770C>G (p.Ala1257Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002022488; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011363 | 34011363 | G | C | 34011363 | - | | |
NM_203446.3(SYNJ1):c.3767C>T (p.Pro1256Leu) | 8867 | SYNJ1 | Uncertain significance | rs147025577 | RCV000692074; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011366 | 34011366 | G | A | NC_000021.8:g.34011366G>A | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3766C>T (p.Pro1256Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001926605; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011367 | 34011367 | G | A | 34011367 | - | | |
NM_203446.3(SYNJ1):c.3765G>A (p.Pro1255=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002165390; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011368 | 34011368 | C | T | 34011368 | - | | |
NM_203446.3(SYNJ1):c.3764C>T (p.Pro1255Leu) | 8867 | SYNJ1 | Uncertain significance | rs141785091 | RCV001210832; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011369 | 34011369 | G | A | 21:g.34011369G>A | - | | |
NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=) | 8867 | SYNJ1 | Likely benign | rs201117151 | RCV000524929; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011371 | 34011371 | G | A | NC_000021.8:g.34011371G>A | ClinGen:CA10003258 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3753T>G (p.Ser1251=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001394880|RCV001815546; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN517202 | 21 | 34011380 | 34011380 | A | C | 34011380 | - | | |
NM_203446.3(SYNJ1):c.3749A>T (p.Gln1250Leu) | 8867 | SYNJ1 | Uncertain significance | rs1433204750 | RCV001302392; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011384 | 34011384 | T | A | 34011384 | - | | |
NM_203446.3(SYNJ1):c.3747G>T (p.Pro1249=) | 8867 | SYNJ1 | Likely benign | rs138579227 | RCV000655786; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011386 | 34011386 | C | A | 21:g.34011386C>A | ClinGen:CA10003263 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=) | 8867 | SYNJ1 | Likely benign | rs138579227 | RCV000917819; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011386 | 34011386 | C | T | 21:g.34011386C>T | - | | |
NM_203446.3(SYNJ1):c.3746C>T (p.Pro1249Leu) | 8867 | SYNJ1 | Uncertain significance | rs149288077 | RCV000687228; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011387 | 34011387 | G | A | 21:g.34011387G>A | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3732G>A (p.Gln1244=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001454624; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011401 | 34011401 | C | T | 34011401 | - | | |
NM_203446.3(SYNJ1):c.3722T>C (p.Leu1241Pro) | 8867 | SYNJ1 | Uncertain significance | rs548516848 | RCV000548786; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011411 | 34011411 | A | G | 21:g.34011411A>G | ClinGen:CA10003267 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3721C>T (p.Leu1241=) | 8867 | SYNJ1 | Benign | rs2230766 | RCV000713729|RCV001518258|RCV001579328; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN169374 | 21 | 34011412 | 34011412 | G | A | NC_000021.8:g.34011412G>A | - | | |
NM_203446.3(SYNJ1):c.3721C>A (p.Leu1241Met) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001916183; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011412 | 34011412 | G | T | 34011412 | - | | |
NM_203446.3(SYNJ1):c.3714T>G (p.Pro1238=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001486915; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011419 | 34011419 | A | C | 34011419 | - | | |
NM_203446.3(SYNJ1):c.3703A>G (p.Thr1235Ala) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002047359; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011430 | 34011430 | T | C | 34011430 | - | | |
NM_203446.3(SYNJ1):c.3697+12T>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002204172; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011969 | 34011969 | A | C | 34011969 | - | | |
NM_203446.3(SYNJ1):c.3697+10C>G | 8867 | SYNJ1 | Benign | -1 | RCV001517085; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011971 | 34011971 | G | C | 34011971 | - | | |
NM_203446.3(SYNJ1):c.3697+8C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001465110; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34011973 | 34011973 | G | A | 34011973 | - | | |
NM_203446.3(SYNJ1):c.3691T>C (p.Ser1231Pro) | 8867 | SYNJ1 | Uncertain significance | rs767695759 | RCV000540996; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011987 | 34011987 | A | G | NC_000021.8:g.34011987A>G | ClinGen:CA10003293 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=) | 8867 | SYNJ1 | Likely benign | rs1446522492 | RCV000918677; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011988 | 34011988 | C | T | 21:g.34011988C>T | - | | |
NM_203446.3(SYNJ1):c.3689C>T (p.Thr1230Met) | 8867 | SYNJ1 | Uncertain significance | rs752805765 | RCV000528408; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011989 | 34011989 | G | A | NC_000021.8:g.34011989G>A | ClinGen:CA10003294 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3688A>C (p.Thr1230Pro) | 8867 | SYNJ1 | Uncertain significance | rs2039743427 | RCV001343832; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011990 | 34011990 | T | G | 34011990 | - | | |
NM_203446.3(SYNJ1):c.3680C>G (p.Thr1227Arg) | 8867 | SYNJ1 | Uncertain significance | rs1275854378 | RCV001326130; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34011998 | 34011998 | G | C | 34011998 | - | | |
NM_203446.3(SYNJ1):c.3675C>G (p.Ser1225Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002025989; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012003 | 34012003 | G | C | 34012003 | - | | |
NM_203446.3(SYNJ1):c.3673A>T (p.Ser1225Cys) | 8867 | SYNJ1 | Uncertain significance | rs2039744699 | RCV001220901; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012005 | 34012005 | T | A | 21:g.34012005T>A | - | | |
NM_203446.3(SYNJ1):c.3665A>G (p.Glu1222Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001985373; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012013 | 34012013 | T | C | 34012013 | - | | |
NM_203446.3(SYNJ1):c.3652A>G (p.Arg1218Gly) | 8867 | SYNJ1 | Uncertain significance | rs139146760 | RCV000821336; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34012026 | 34012026 | T | C | 21:g.34012026T>C | - | | |
NM_203446.3(SYNJ1):c.3639G>A (p.Arg1213=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002201314; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34012039 | 34012039 | C | T | 34012039 | - | | |
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln) | 8867 | SYNJ1 | Uncertain significance | rs144048853 | RCV000549180|RCV000713728; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34012040 | 34012040 | C | T | NC_000021.8:g.34012040C>T | ClinGen:CA10003301 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3637C>T (p.Arg1213Trp) | 8867 | SYNJ1 | Uncertain significance | rs779662077 | RCV001319975; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34012041 | 34012041 | G | A | 34012041 | - | | |
NM_203446.3(SYNJ1):c.3637C>G (p.Arg1213Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001910337; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012041 | 34012041 | G | C | 34012041 | - | | |
NM_203446.3(SYNJ1):c.3636G>A (p.Ala1212=) | 8867 | SYNJ1 | Likely benign | rs576444776 | RCV000536527; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012042 | 34012042 | C | T | NC_000021.8:g.34012042C>T | ClinGen:CA10003304 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3635C>T (p.Ala1212Val) | 8867 | SYNJ1 | Likely benign | -1 | RCV001398947; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34012043 | 34012043 | G | A | 34012043 | - | | |
NM_203446.3(SYNJ1):c.3634G>A (p.Ala1212Thr) | 8867 | SYNJ1 | Uncertain significance | rs769125182 | RCV000800705; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012044 | 34012044 | C | T | 21:g.34012044C>T | - | | |
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=) | 8867 | SYNJ1 | Likely benign | rs771394723 | RCV000919272; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012045 | 34012045 | G | A | 21:g.34012045G>A | - | | |
NM_203446.3(SYNJ1):c.3610G>A (p.Val1204Ile) | 8867 | SYNJ1 | Uncertain significance | rs1569027714 | RCV000693739; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012068 | 34012068 | C | T | 21:g.34012068C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3607G>A (p.Gly1203Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001772678|RCV002034474; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012071 | 34012071 | C | T | 34012071 | - | | |
NM_203446.3(SYNJ1):c.3604G>T (p.Ala1202Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001364513; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012074 | 34012074 | C | A | 34012074 | - | | |
NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His) | 8867 | SYNJ1 | Uncertain significance | rs376836481 | RCV001246259|RCV001773559; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN517202 | 21 | 34012076 | 34012076 | C | T | 21:g.34012076C>T | - | | |
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) | 8867 | SYNJ1 | Conflicting interpretations of pathogenicity | rs114994257 | RCV000784966|RCV000784964|RCV000784965|RCV001523237; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:6155 | 21 | 34012077 | 34012077 | G | A | 21:g.34012077G>A | - | | |
NM_203446.3(SYNJ1):c.3601C>G (p.Arg1201Gly) | 8867 | SYNJ1 | Uncertain significance | rs114994257 | RCV001038795; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012077 | 34012077 | G | C | 21:g.34012077G>C | - | | |
NM_203446.3(SYNJ1):c.3598C>T (p.Pro1200Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001367871; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012080 | 34012080 | G | A | 34012080 | - | | |
NM_203446.3(SYNJ1):c.3595C>T (p.Pro1199Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001760955|RCV002034464; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012083 | 34012083 | G | A | 34012083 | - | | |
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=) | 8867 | SYNJ1 | Likely benign | rs764207431 | RCV000952666; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34012087 | 34012087 | C | T | 21:g.34012087C>T | - | | |
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met) | 8867 | SYNJ1 | Likely benign | rs145937537 | RCV000658922|RCV001079642; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012088 | 34012088 | G | A | NC_000021.8:g.34012088G>A | ClinGen:CA10003314 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3589-8A>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001493761; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012097 | 34012097 | T | A | 34012097 | - | | |
NM_203446.3(SYNJ1):c.3589-16T>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002183443; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34012105 | 34012105 | A | C | 34012105 | - | | |
NM_203446.3(SYNJ1):c.3589-16T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002109357; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34012105 | 34012105 | A | G | 34012105 | - | | |
NM_203446.3(SYNJ1):c.3588+20G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002119676; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014186 | 34014186 | C | T | 34014186 | - | | |
NM_203446.3(SYNJ1):c.3588+15G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002175194; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014191 | 34014191 | C | T | 34014191 | - | | |
NM_203446.3(SYNJ1):c.3588+14C>T | 8867 | SYNJ1 | Benign | -1 | RCV001579504|RCV001615343|RCV002072284; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014192 | 34014192 | G | A | 34014192 | - | | |
NM_203446.3(SYNJ1):c.3588+7A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001487426; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014199 | 34014199 | T | C | 34014199 | - | | |
NM_203446.3(SYNJ1):c.3588+5G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001912198; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014201 | 34014201 | C | T | 34014201 | - | | |
NM_203446.3(SYNJ1):c.3588G>A (p.Pro1196=) | 8867 | SYNJ1 | Uncertain significance | rs1160685381 | RCV000548087; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014206 | 34014206 | C | T | NC_000021.8:g.34014206C>T | ClinGen:CA512143858 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3587C>T (p.Pro1196Leu) | 8867 | SYNJ1 | Uncertain significance | rs61752550 | RCV000697536; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014207 | 34014207 | G | A | 21:g.34014207G>A | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3587C>A (p.Pro1196Gln) | 8867 | SYNJ1 | Uncertain significance | rs61752550 | RCV000698606; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014207 | 34014207 | G | T | NC_000021.8:g.34014207G>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3587C>G (p.Pro1196Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001936731; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014207 | 34014207 | G | C | 34014207 | - | | |
NM_203446.3(SYNJ1):c.3585A>G (p.Arg1195=) | 8867 | SYNJ1 | Likely benign | rs1404447301 | RCV000920785|RCV001503733; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014209 | 34014209 | T | C | 21:g.34014209T>C | - | | |
NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr) | 8867 | SYNJ1 | Uncertain significance | rs1336877948 | RCV001054682; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014210 | 34014210 | C | G | 21:g.34014210C>G | - | | |
NM_203446.3(SYNJ1):c.3581C>G (p.Ala1194Gly) | 8867 | SYNJ1 | Uncertain significance | rs779766895 | RCV000796047; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014213 | 34014213 | G | C | 21:g.34014213G>C | - | | |
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro) | 8867 | SYNJ1 | Uncertain significance | rs77164494 | RCV000655766; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014214 | 34014214 | C | G | NC_000021.8:g.34014214C>G | ClinGen:CA10003340 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3578C>G (p.Thr1193Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001975835; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014216 | 34014216 | G | C | 34014216 | - | | |
NM_203446.3(SYNJ1):c.3575G>T (p.Ser1192Ile) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001976160; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014219 | 34014219 | C | A | 34014219 | - | | |
NM_203446.3(SYNJ1):c.3572A>T (p.Tyr1191Phe) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001933628; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014222 | 34014222 | T | A | 34014222 | - | | |
NM_203446.3(SYNJ1):c.3568G>A (p.Gly1190Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002014552; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014226 | 34014226 | C | T | 34014226 | - | | |
NM_203446.3(SYNJ1):c.3560G>A (p.Gly1187Glu) | 8867 | SYNJ1 | Uncertain significance | rs1601244421 | RCV001298521; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014234 | 34014234 | C | T | 34014234 | - | | |
NM_203446.3(SYNJ1):c.3558A>T (p.Pro1186=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002199691; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014236 | 34014236 | T | A | 34014236 | - | | |
NM_203446.3(SYNJ1):c.3554G>A (p.Gly1185Asp) | 8867 | SYNJ1 | Uncertain significance | rs1569030684 | RCV000688391; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014240 | 34014240 | C | T | NC_000021.8:g.34014240C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3551_3552insGCA (p.Ala1184_Gly1185insGln) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001876823; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014242 | 34014243 | T | TTGC | 34014242 | - | | |
NM_203446.3(SYNJ1):c.3550G>C (p.Ala1184Pro) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002006051; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014244 | 34014244 | C | G | 34014244 | - | | |
NM_203446.3(SYNJ1):c.3547C>G (p.Leu1183Val) | 8867 | SYNJ1 | Uncertain significance | rs2039857400 | RCV001053334; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014247 | 34014247 | G | C | 21:g.34014247G>C | - | | |
NM_203446.3(SYNJ1):c.3524G>C (p.Ser1175Thr) | 8867 | SYNJ1 | Uncertain significance | rs994115947 | RCV000655744; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014270 | 34014270 | C | G | NC_000021.8:g.34014270C>G | ClinGen:CA319422118 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys) | 8867 | SYNJ1 | Uncertain significance | rs1367145848 | RCV001046232; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014274 | 34014274 | G | A | 21:g.34014274G>A | - | | |
NM_203446.3(SYNJ1):c.3518-7G>T | 8867 | SYNJ1 | Benign | rs2833929 | RCV000713727|RCV001522160|RCV001815376|RCV001815377|RCV001579669; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN1693 | 21 | 34014283 | 34014283 | C | A | NC_000021.8:g.34014283C>A | - | | |
NM_203446.3(SYNJ1):c.3518-9T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002169662; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014285 | 34014285 | A | G | 34014285 | - | | |
NM_203446.3(SYNJ1):c.3518-17T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002203517; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014293 | 34014293 | A | G | 34014293 | - | | |
NM_203446.3(SYNJ1):c.3517+13G>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002151063; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014392 | 34014392 | C | G | 34014392 | - | | |
NM_203446.3(SYNJ1):c.3517+10C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001400246; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014395 | 34014395 | G | A | 34014395 | - | | |
NM_203446.3(SYNJ1):c.3517+7A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001437549; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014398 | 34014398 | T | C | 34014398 | - | | |
NM_203446.3(SYNJ1):c.3517+6A>C | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002035884; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014399 | 34014399 | T | G | 34014399 | - | | |
NM_203446.3(SYNJ1):c.3490C>T (p.Pro1164Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001961019; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014432 | 34014432 | G | A | 34014432 | - | | |
NM_203446.3(SYNJ1):c.3489C>T (p.Ser1163=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001473164; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014433 | 34014433 | G | A | 34014433 | - | | |
NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala) | 8867 | SYNJ1 | Uncertain significance | rs1473250864 | RCV001221984; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34014441 | 34014441 | G | C | 21:g.34014441G>C | - | | |
NM_203446.3(SYNJ1):c.3479-14T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002145554; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014457 | 34014457 | A | G | 34014457 | - | | |
NM_203446.3(SYNJ1):c.3479-18del | 8867 | SYNJ1 | Benign | -1 | RCV001681856|RCV002073209; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34014461 | 34014461 | GA | G | 34014460 | - | | |
NM_203446.3(SYNJ1):c.3478+12C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002133363; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34015708 | 34015708 | G | A | 34015708 | - | | |
NM_203446.3(SYNJ1):c.3476A>T (p.Glu1159Val) | 8867 | SYNJ1 | Uncertain significance | rs2039931880 | RCV001236801; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34015722 | 34015722 | T | A | 21:g.34015722T>A | - | | |
NM_203446.3(SYNJ1):c.3475G>A (p.Glu1159Lys) | 8867 | SYNJ1 | Uncertain significance | rs561276644 | RCV001349137; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34015723 | 34015723 | C | T | 34015723 | - | | |
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer) | 8867 | SYNJ1 | Pathogenic | rs2039933328 | RCV001222105; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34015741 | 34015741 | AC | A | 21:g.34015741_34015741del | - | | |
NM_203446.3(SYNJ1):c.3456G>C (p.Gly1152=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002156302; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34015742 | 34015742 | C | G | 34015742 | - | | |
NM_203446.3(SYNJ1):c.3448A>C (p.Ser1150Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001945793; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34015750 | 34015750 | T | G | 34015750 | - | | |
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001382931; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34015759 | 34015760 | C | CT | 34015759 | - | | |
NM_203446.3(SYNJ1):c.3431G>A (p.Gly1144Asp) | 8867 | SYNJ1 | Uncertain significance | rs142964720 | RCV000535707|RCV001770500; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34015767 | 34015767 | C | T | NC_000021.8:g.34015767C>T | ClinGen:CA10003401 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3431-6A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001458911; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34015773 | 34015773 | T | C | 34015773 | - | | |
NM_203446.3(SYNJ1):c.3431-8C>A | 8867 | SYNJ1 | Uncertain significance | rs369584002 | RCV000798274; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34015775 | 34015775 | G | T | 21:g.34015775G>T | - | | |
NM_203446.3(SYNJ1):c.3431-10C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001464118; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34015777 | 34015777 | G | A | 34015777 | - | | |
NM_203446.3(SYNJ1):c.3430+12C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002071147; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017266 | 34017266 | G | A | 34017266 | - | | |
NM_203446.3(SYNJ1):c.3430+1G>A | 8867 | SYNJ1 | Likely pathogenic | -1 | RCV002003966; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017277 | 34017277 | C | T | 34017277 | - | | |
NM_203446.3(SYNJ1):c.3411C>T (p.Pro1137=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002187690; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017297 | 34017297 | G | A | 34017297 | - | | |
NM_203446.3(SYNJ1):c.3410C>T (p.Pro1137Leu) | 8867 | SYNJ1 | Uncertain significance | rs569046864 | RCV000655767; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017298 | 34017298 | G | A | 21:g.34017298G>A | ClinGen:CA10003418 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3409C>T (p.Pro1137Ser) | 8867 | SYNJ1 | Uncertain significance | rs1461988082 | RCV001315715; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017299 | 34017299 | G | A | 34017299 | - | | |
NM_203446.3(SYNJ1):c.3403C>T (p.Pro1135Ser) | 8867 | SYNJ1 | Uncertain significance | rs151126056 | RCV001046387|RCV001552430; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34017305 | 34017305 | G | A | 21:g.34017305G>A | - | | |
NM_203446.3(SYNJ1):c.3396T>C (p.Ala1132=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002191615; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017312 | 34017312 | A | G | 34017312 | - | | |
NM_203446.3(SYNJ1):c.3393G>A (p.Gly1131=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002091659; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017315 | 34017315 | C | T | 34017315 | - | | |
NM_203446.3(SYNJ1):c.3392-5A>G | 8867 | SYNJ1 | Uncertain significance | rs776721216 | RCV000797876; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017321 | 34017321 | T | C | 21:g.34017321T>C | - | | |
NM_203446.3(SYNJ1):c.3392-5A>T | 8867 | SYNJ1 | Likely benign | rs776721216 | RCV000977574; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017321 | 34017321 | T | A | 21:g.34017321T>A | - | | |
NM_203446.3(SYNJ1):c.3392-8A>T | 8867 | SYNJ1 | Likely benign | rs533064963 | RCV000929801; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017324 | 34017324 | T | A | 21:g.34017324T>A | - | | |
NM_203446.3(SYNJ1):c.3392-10G>C | 8867 | SYNJ1 | Likely benign | -1 | RCV001418521; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017326 | 34017326 | C | G | 34017326 | - | | |
NM_203446.3(SYNJ1):c.3392-20A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002072892; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017336 | 34017336 | T | C | 34017336 | - | | |
NM_203446.3(SYNJ1):c.3391+15T>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002190157; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017941 | 34017941 | A | T | 34017941 | - | | |
NM_203446.3(SYNJ1):c.3391+8C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002078902; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017948 | 34017948 | G | A | 34017948 | - | | |
NM_203446.3(SYNJ1):c.3391+6A>C | 8867 | SYNJ1 | Uncertain significance | rs745914222 | RCV001296530; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017950 | 34017950 | T | G | 34017950 | - | | |
NM_203446.3(SYNJ1):c.3378TCC[1] (p.Pro1129del) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001959815; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017964 | 34017966 | CGGA | C | 34017963 | - | | |
NM_203446.3(SYNJ1):c.3378T>A (p.Pro1126=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001482779; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017969 | 34017969 | A | T | 34017969 | - | | |
NM_203446.3(SYNJ1):c.3376C>A (p.Pro1126Thr) | 8867 | SYNJ1 | Uncertain significance | rs1485482944 | RCV000815075|RCV001329149; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34017971 | 34017971 | G | T | 21:g.34017971G>T | - | | |
NM_203446.3(SYNJ1):c.3370C>G (p.Gln1124Glu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001920677; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017977 | 34017977 | G | C | 34017977 | - | | |
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) | 8867 | SYNJ1 | Benign/Likely benign | rs368850131 | RCV000713726|RCV001083407|RCV001644669; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN169374 | 21 | 34017978 | 34017978 | T | C | NC_000021.8:g.34017978T>C | ClinGen:CA10003439 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3369A>C (p.Pro1123=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002074974; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017978 | 34017978 | T | G | 34017978 | - | | |
NM_203446.3(SYNJ1):c.3368C>A (p.Pro1123Gln) | 8867 | SYNJ1 | Uncertain significance | rs748154988 | RCV001061834; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017979 | 34017979 | G | T | 21:g.34017979G>T | - | | |
NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser) | 8867 | SYNJ1 | Uncertain significance | rs1274970038 | RCV001205063; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017983 | 34017983 | G | A | 21:g.34017983G>A | - | | |
NM_203446.3(SYNJ1):c.3359C>T (p.Pro1120Leu) | 8867 | SYNJ1 | Uncertain significance | rs773242399 | RCV001257216; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017988 | 34017988 | G | A | 21:g.34017988G>A | - | | |
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=) | 8867 | SYNJ1 | Likely benign | rs1601259728 | RCV000921992; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017990 | 34017990 | G | A | 21:g.34017990G>A | - | | |
NM_203446.3(SYNJ1):c.3355C>A (p.Arg1119Ser) | 8867 | SYNJ1 | Uncertain significance | rs1157846436 | RCV001326798; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017992 | 34017992 | G | T | 34017992 | - | | |
NM_203446.3(SYNJ1):c.3355C>T (p.Arg1119Cys) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002011066; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017992 | 34017992 | G | A | 34017992 | - | | |
NM_203446.3(SYNJ1):c.3352A>G (p.Thr1118Ala) | 8867 | SYNJ1 | Uncertain significance | rs1189796802 | RCV001063021; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34017995 | 34017995 | T | C | 21:g.34017995T>C | - | | |
NM_203446.3(SYNJ1):c.3347C>T (p.Pro1116Leu) | 8867 | SYNJ1 | Uncertain significance | rs765746949 | RCV001049739; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018000 | 34018000 | G | A | 21:g.34018000G>A | - | | |
NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile) | 8867 | SYNJ1 | Uncertain significance | rs527362526 | RCV001245323; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018007 | 34018007 | C | T | 21:g.34018007C>T | - | | |
NM_203446.3(SYNJ1):c.3333C>G (p.Pro1111=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002109815; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018014 | 34018014 | G | C | 34018014 | - | | |
NM_203446.3(SYNJ1):c.3327G>A (p.Pro1109=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001493272; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018020 | 34018020 | C | T | 34018020 | - | | |
NM_203446.3(SYNJ1):c.3320G>A (p.Arg1107Gln) | 8867 | SYNJ1 | Uncertain significance | rs917502531 | RCV000690589; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018027 | 34018027 | C | T | 21:g.34018027C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3318G>C (p.Lys1106Asn) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001973183; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018029 | 34018029 | C | G | 34018029 | - | | |
NM_203446.3(SYNJ1):c.3304C>T (p.Pro1102Ser) | 8867 | SYNJ1 | Uncertain significance | rs1368672974 | RCV000655755; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018043 | 34018043 | G | A | 21:g.34018043G>A | ClinGen:CA410068343 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3301C>G (p.Gln1101Glu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001958305; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018046 | 34018046 | G | C | 34018046 | - | | |
NM_203446.3(SYNJ1):c.3296C>T (p.Pro1099Leu) | 8867 | SYNJ1 | Uncertain significance | rs1447192933 | RCV001318469; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018051 | 34018051 | G | A | 34018051 | - | | |
NM_203446.3(SYNJ1):c.3290A>G (p.Lys1097Arg) | 8867 | SYNJ1 | Uncertain significance | rs946267411 | RCV000530098; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018057 | 34018057 | T | C | NC_000021.8:g.34018057T>C | ClinGen:CA319422840 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3287A>G (p.Gln1096Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001932022; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018060 | 34018060 | T | C | 34018060 | - | | |
NM_203446.3(SYNJ1):c.3281_3286del (p.Leu1094_Pro1095del) | 8867 | SYNJ1 | Uncertain significance | rs1283379982 | RCV000702703; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018061 | 34018066 | TGCGGCA | T | NC_000021.8:g.34018066_34018071del | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3285G>A (p.Pro1095=) | 8867 | SYNJ1 | Likely benign | rs376395608 | RCV000655782; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018062 | 34018062 | C | T | 21:g.34018062C>T | ClinGen:CA10003451 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=) | 8867 | SYNJ1 | Likely benign | rs376395608 | RCV000941255; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018062 | 34018062 | C | A | 21:g.34018062C>A | - | | |
NM_203446.3(SYNJ1):c.3275CGC[3] (p.Pro1093dup) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001367909; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018066 | 34018067 | A | AGCG | 34018066 | - | | |
NM_203446.3(SYNJ1):c.3278C>T (p.Pro1093Leu) | 8867 | SYNJ1 | Uncertain significance | rs1326671091 | RCV000713725|RCV001861996; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018069 | 34018069 | G | A | NC_000021.8:g.34018069G>A | - | | |
NM_203446.3(SYNJ1):c.3273A>C (p.Ala1091=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002181388; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018074 | 34018074 | T | G | 34018074 | - | | |
NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001410979; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018077 | 34018077 | T | C | 34018077 | - | | |
NM_203446.3(SYNJ1):c.3266A>G (p.Gln1089Arg) | 8867 | SYNJ1 | Uncertain significance | rs779932426 | RCV001343499; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018081 | 34018081 | T | C | 34018081 | - | | |
NM_203446.3(SYNJ1):c.3263C>G (p.Ala1088Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002000808; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018084 | 34018084 | G | C | 34018084 | - | | |
NM_203446.3(SYNJ1):c.3261C>T (p.Asp1087=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001474343; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018086 | 34018086 | G | A | 34018086 | - | | |
NM_203446.3(SYNJ1):c.3249T>G (p.Ser1083Arg) | 8867 | SYNJ1 | Uncertain significance | rs1396229702 | RCV001317134; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018098 | 34018098 | A | C | 34018098 | - | | |
NM_203446.3(SYNJ1):c.3248-6T>G | 8867 | SYNJ1 | Uncertain significance | rs567223330 | RCV001060692; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018105 | 34018105 | A | C | 21:g.34018105A>C | - | | |
NM_203446.3(SYNJ1):c.3248-18C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002186849; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018117 | 34018117 | G | A | 34018117 | - | | |
NM_203446.3(SYNJ1):c.3248-19C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002071331; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018118 | 34018118 | G | A | 34018118 | - | | |
NM_203446.3(SYNJ1):c.3215C>A (p.Pro1072Gln) | 8867 | SYNJ1 | Uncertain significance | rs771524798 | RCV000685214; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018735 | 34018735 | G | T | NC_000021.8:g.34018735G>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3209G>A (p.Arg1070Gln) | 8867 | SYNJ1 | Uncertain significance | rs141107054 | RCV000655746; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018741 | 34018741 | C | T | 21:g.34018741C>T | ClinGen:CA10003485 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3205A>G (p.Ser1069Gly) | 8867 | SYNJ1 | Likely benign | rs149817769 | RCV000557586; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018745 | 34018745 | T | C | NC_000021.8:g.34018745T>C | ClinGen:CA10003486 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3202C>G (p.Pro1068Ala) | 8867 | SYNJ1 | Uncertain significance | rs1374696982 | RCV001069121; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018748 | 34018748 | G | C | 21:g.34018748G>C | - | | |
NM_203446.3(SYNJ1):c.3196A>G (p.Ile1066Val) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001877871; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018754 | 34018754 | T | C | 34018754 | - | | |
NM_203446.3(SYNJ1):c.3195C>T (p.Pro1065=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001462763; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018755 | 34018755 | G | A | 34018755 | - | | |
NM_203446.3(SYNJ1):c.3187T>C (p.Ser1063Pro) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001879651; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018763 | 34018763 | A | G | 34018763 | - | | |
NM_203446.3(SYNJ1):c.3181G>C (p.Val1061Leu) | 8867 | SYNJ1 | Uncertain significance | rs753032623 | RCV001219325; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018769 | 34018769 | C | G | 21:g.34018769C>G | - | | |
NM_203446.3(SYNJ1):c.3179C>G (p.Pro1060Arg) | 8867 | SYNJ1 | Uncertain significance | rs1430500307 | RCV000655762; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018771 | 34018771 | G | C | NC_000021.8:g.34018771G>C | ClinGen:CA410069312 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3175G>A (p.Gly1059Ser) | 8867 | SYNJ1 | Uncertain significance | rs2040073930 | RCV001064419; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018775 | 34018775 | C | T | 21:g.34018775C>T | - | | |
NM_203446.3(SYNJ1):c.3166A>C (p.Ile1056Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001880368; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018784 | 34018784 | T | G | 34018784 | - | | |
NM_203446.3(SYNJ1):c.3145_3147dup (p.Ser1049dup) | 8867 | SYNJ1 | Uncertain significance | rs2040075484 | RCV001222312; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018802 | 34018803 | G | GACT | 21:g.34018802_34018803insACT | - | | |
NM_203446.3(SYNJ1):c.3139C>G (p.Arg1047Gly) | 8867 | SYNJ1 | Uncertain significance | rs147931121 | RCV000699027; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018811 | 34018811 | G | C | NC_000021.8:g.34018811G>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs) | 8867 | SYNJ1 | Pathogenic | rs1230133310 | RCV001051902; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018824 | 34018824 | TG | T | 21:g.34018824_34018824del | - | | |
NM_203446.3(SYNJ1):c.3124C>T (p.Pro1042Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001958560; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018826 | 34018826 | G | A | 34018826 | - | | |
NM_203446.3(SYNJ1):c.3097T>C (p.Ser1033Pro) | 8867 | SYNJ1 | Uncertain significance | rs61752559 | RCV000704245|RCV001333169; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018853 | 34018853 | A | G | 21:g.34018853A>G | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3057T>G (p.Ser1019Arg) | 8867 | SYNJ1 | Uncertain significance | rs767760891 | RCV000686383; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018893 | 34018893 | A | C | 21:g.34018893A>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.3049G>T (p.Asp1017Tyr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001906395; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34018901 | 34018901 | C | A | 34018901 | - | | |
NM_203446.3(SYNJ1):c.3042T>A (p.Asp1014Glu) | 8867 | SYNJ1 | Uncertain significance | rs115353088 | RCV001060419; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34018908 | 34018908 | A | T | 21:g.34018908A>T | - | | |
NM_203446.3(SYNJ1):c.3037+18A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002126957; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022476 | 34022476 | T | C | 34022476 | - | | |
NM_203446.3(SYNJ1):c.3037+11_3037+12insGGAAGGTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTCGGGATCCTCCC | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001976520; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022482 | 34022483 | T | TAAGAAACAAACCTTCCGGCCGGGCGACGTGGCTCTCGCCTGTAATCCCAGCTCATTGGGAGGCAGAGGCGGGAGGATCCCGAGTNNNNNNNNNNAAAAAAAAAAAAAAA | 34022482 | - | | |
NM_203446.3(SYNJ1):c.3036A>C (p.Glu1012Asp) | 8867 | SYNJ1 | Uncertain significance | rs2040223517 | RCV001066571; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022495 | 34022495 | T | G | 21:g.34022495T>G | - | | |
NM_203446.3(SYNJ1):c.3015T>C (p.Val1005=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002132892; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022516 | 34022516 | A | G | 34022516 | - | | |
NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr) | 8867 | SYNJ1 | Uncertain significance | rs911362591 | RCV001337508; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022524 | 34022524 | C | T | 34022524 | - | | |
NM_203446.3(SYNJ1):c.3004G>C (p.Asp1002His) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001990105; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022527 | 34022527 | C | G | 34022527 | - | | |
NM_203446.3(SYNJ1):c.2997T>C (p.Leu999=) | 8867 | SYNJ1 | Likely benign | rs111774827 | RCV000655777; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022534 | 34022534 | A | G | 21:g.34022534A>G | ClinGen:CA10003532 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2996T>A (p.Leu999His) | 8867 | SYNJ1 | Uncertain significance | rs1601283152 | RCV000821417; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022535 | 34022535 | A | T | 21:g.34022535A>T | - | | |
NM_203446.3(SYNJ1):c.2994G>A (p.Leu998=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001472018; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022537 | 34022537 | C | T | 34022537 | - | | |
NM_203446.3(SYNJ1):c.2983A>C (p.Ser995Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002048325; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022548 | 34022548 | T | G | 34022548 | - | | |
NM_203446.3(SYNJ1):c.2981C>A (p.Thr994Lys) | 8867 | SYNJ1 | Uncertain significance | rs776726487 | RCV000819595; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022550 | 34022550 | G | T | 21:g.34022550G>T | - | | |
NM_203446.3(SYNJ1):c.2976A>G (p.Ser992=) | 8867 | SYNJ1 | Likely benign | rs115204185 | RCV000940079|RCV001506297; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022555 | 34022555 | T | C | 21:g.34022555T>C | - | | |
NM_203446.3(SYNJ1):c.2958T>C (p.Ile986=) | 8867 | SYNJ1 | Likely benign | rs879835661 | RCV000896725|RCV001471061; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022573 | 34022573 | A | G | 21:g.34022573A>G | - | | |
NM_203446.3(SYNJ1):c.2955A>G (p.Lys985=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001425904; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022576 | 34022576 | T | C | 34022576 | - | | |
NM_203446.3(SYNJ1):c.2954A>G (p.Lys985Arg) | 8867 | SYNJ1 | Uncertain significance | rs1325187801 | RCV000824245; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022577 | 34022577 | T | C | 21:g.34022577T>C | - | | |
NM_203446.3(SYNJ1):c.2943G>T (p.Met981Ile) | 8867 | SYNJ1 | Benign/Likely benign | rs115683257 | RCV000655774|RCV001662715; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN517202 | 21 | 34022588 | 34022588 | C | A | 21:g.34022588C>A | ClinGen:CA10003539 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2937A>G (p.Glu979=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001422927; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022594 | 34022594 | T | C | 34022594 | - | | |
NM_203446.3(SYNJ1):c.2909G>C (p.Ser970Thr) | 8867 | SYNJ1 | Likely benign | -1 | RCV001425205; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022622 | 34022622 | C | G | 34022622 | - | | |
NM_203446.3(SYNJ1):c.2902T>G (p.Leu968Val) | 8867 | SYNJ1 | Uncertain significance | rs1372258834 | RCV001233196; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022629 | 34022629 | A | C | 21:g.34022629A>C | - | | |
NM_203446.3(SYNJ1):c.2896A>G (p.Ile966Val) | 8867 | SYNJ1 | Uncertain significance | rs1601283648 | RCV000795373; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022635 | 34022635 | T | C | 21:g.34022635T>C | - | | |
NM_203446.3(SYNJ1):c.2885G>A (p.Arg962Gln) | 8867 | SYNJ1 | Uncertain significance | rs371117480 | RCV001046770; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022646 | 34022646 | C | T | 21:g.34022646C>T | - | | |
NM_203446.3(SYNJ1):c.2884C>T (p.Arg962Trp) | 8867 | SYNJ1 | Uncertain significance | rs149147152 | RCV000815512; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022647 | 34022647 | G | A | 21:g.34022647G>A | - | | |
NM_203446.3(SYNJ1):c.2882A>G (p.Asn961Ser) | 8867 | SYNJ1 | Uncertain significance | rs754401787 | RCV000545053; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022649 | 34022649 | T | C | 21:g.34022649T>C | ClinGen:CA319424147 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2875-4C>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002077673; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022660 | 34022660 | G | T | 34022660 | - | | |
NM_203446.3(SYNJ1):c.2875-5G>A | 8867 | SYNJ1 | Likely benign | rs376206541 | RCV000532720|RCV001490505; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022661 | 34022661 | C | T | NC_000021.8:g.34022661C>T | ClinGen:CA10003547 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2875-6C>T | 8867 | SYNJ1 | Likely benign | rs183558612 | RCV000973055; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34022662 | 34022662 | G | A | 21:g.34022662G>A | - | | |
NM_203446.3(SYNJ1):c.2875-20T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002135578; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34022676 | 34022676 | A | G | 34022676 | - | | |
NM_203446.3(SYNJ1):c.2874+6G>A | 8867 | SYNJ1 | Uncertain significance | rs368204504 | RCV000707385; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34025592 | 34025592 | C | T | NC_000021.8:g.34025592C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2874+5G>A | 8867 | SYNJ1 | Conflicting interpretations of pathogenicity | rs371765751 | RCV000552019|RCV000997819; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34025593 | 34025593 | C | T | 21:g.34025593C>T | ClinGen:CA10003564 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2861T>G (p.Leu954Arg) | 8867 | SYNJ1 | Uncertain significance | rs755535504 | RCV001315044; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34025611 | 34025611 | A | C | 34025611 | - | | |
NM_203446.3(SYNJ1):c.2860C>T (p.Leu954=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001466862; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34025612 | 34025612 | G | A | 34025612 | - | | |
NM_203446.3(SYNJ1):c.2849A>G (p.Asn950Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001984310; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34025623 | 34025623 | T | C | 34025623 | - | | |
NM_203446.3(SYNJ1):c.2844C>T (p.Ala948=) | 8867 | SYNJ1 | Likely benign | rs1432339434 | RCV000655772|RCV001431434; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34025628 | 34025628 | G | A | 21:g.34025628G>A | ClinGen:CA512150663 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2818G>T (p.Val940Phe) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002046719; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34025654 | 34025654 | C | A | 34025654 | - | | |
NM_203446.3(SYNJ1):c.2814G>A (p.Met938Ile) | 8867 | SYNJ1 | Uncertain significance | rs546854566 | RCV001062148; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34025658 | 34025658 | C | T | 21:g.34025658C>T | - | | |
NM_203446.3(SYNJ1):c.2802A>G (p.Val934=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001489371; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34025670 | 34025670 | T | C | 34025670 | - | | |
NM_203446.3(SYNJ1):c.2795+16T>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002206856; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34028981 | 34028981 | A | T | 34028981 | - | | |
NM_203446.3(SYNJ1):c.2795+10T>C | 8867 | SYNJ1 | Likely benign | rs756959605 | RCV000932445; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34028987 | 34028987 | A | G | 21:g.34028987A>G | - | | |
NM_203446.3(SYNJ1):c.2795+7T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV001452648; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34028990 | 34028990 | A | G | 34028990 | - | | |
NM_203446.3(SYNJ1):c.2793_2797del (p.Arg932fs) | 8867 | SYNJ1 | Pathogenic | rs778394516 | RCV000691883; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34028997 | 34029001 | CCTTAT | C | 21:g.34028997_34029001del | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2793A>G (p.Ile931Met) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001993819; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34028999 | 34028999 | T | C | 34028999 | - | | |
NM_203446.3(SYNJ1):c.2788_2793del (p.Leu930_Ile931del) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002042904; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34028999 | 34029004 | TTATAAG | T | 34028998 | - | | |
NM_203446.3(SYNJ1):c.2792T>C (p.Ile931Thr) | 8867 | SYNJ1 | Uncertain significance | rs932390799 | RCV000655752; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029000 | 34029000 | A | G | 21:g.34029000A>G | ClinGen:CA319425769 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2786T>C (p.Ile929Thr) | 8867 | SYNJ1 | Uncertain significance | rs755258923 | RCV000655756; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029006 | 34029006 | A | G | 21:g.34029006A>G | ClinGen:CA10003594 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2786T>G (p.Ile929Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001362486; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029006 | 34029006 | A | C | 34029006 | - | | |
NM_203446.3(SYNJ1):c.2782G>A (p.Val928Ile) | 8867 | SYNJ1 | Uncertain significance | rs1327987813 | RCV001066066; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029010 | 34029010 | C | T | 21:g.34029010C>T | - | | |
NM_203446.3(SYNJ1):c.2781A>G (p.Glu927=) | 8867 | SYNJ1 | Uncertain significance | rs1350091132 | RCV000694181; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029011 | 34029011 | T | C | 21:g.34029011T>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2777G>A (p.Gly926Asp) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002032893; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029015 | 34029015 | C | T | 34029015 | - | | |
NM_203446.3(SYNJ1):c.2774T>A (p.Phe925Tyr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002018794; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029018 | 34029018 | A | T | 34029018 | - | | |
NM_203446.3(SYNJ1):c.2766T>C (p.Phe922=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001443665; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029026 | 34029026 | A | G | 34029026 | - | | |
NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His) | 8867 | SYNJ1 | Uncertain significance | rs777815557 | RCV001244206; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029032 | 34029032 | C | G | 21:g.34029032C>G | - | | |
NM_203446.3(SYNJ1):c.2757G>T (p.Leu919=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001406669; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029035 | 34029035 | C | A | 34029035 | - | | |
NM_203446.3(SYNJ1):c.2744T>C (p.Ile915Thr) | 8867 | SYNJ1 | Uncertain significance | rs867564053 | RCV000701873; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029048 | 34029048 | A | G | NC_000021.8:g.34029048A>G | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2744T>G (p.Ile915Ser) | 8867 | SYNJ1 | Uncertain significance | rs867564053 | RCV001245890; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029048 | 34029048 | A | C | 21:g.34029048A>C | - | | |
NM_203446.3(SYNJ1):c.2739C>T (p.Ala913=) | 8867 | SYNJ1 | Likely benign | rs267606107 | RCV000905639; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029053 | 34029053 | G | A | 21:g.34029053G>A | - | | |
NM_203446.3(SYNJ1):c.2720A>G (p.Asn907Ser) | 8867 | SYNJ1 | Uncertain significance | rs542405957 | RCV001039499; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029072 | 34029072 | T | C | 21:g.34029072T>C | - | | |
NM_203446.3(SYNJ1):c.2715A>G (p.Pro905=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002090210; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029077 | 34029077 | T | C | 34029077 | - | | |
NM_203446.3(SYNJ1):c.2713C>A (p.Pro905Thr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001884311; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029079 | 34029079 | G | T | 34029079 | - | | |
NM_203446.3(SYNJ1):c.2708C>G (p.Ser903Cys) | 8867 | SYNJ1 | Uncertain significance | rs373328306 | RCV001216706; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029084 | 34029084 | G | C | 21:g.34029084G>C | - | | |
NM_203446.3(SYNJ1):c.2708C>A (p.Ser903Tyr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001991721; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029084 | 34029084 | G | T | 34029084 | - | | |
NM_203446.3(SYNJ1):c.2696C>T (p.Ser899Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002006694; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029096 | 34029096 | G | A | 34029096 | - | | |
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=) | 8867 | SYNJ1 | Benign | rs115263361 | RCV000923279; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029101 | 34029101 | C | T | 21:g.34029101C>T | - | | |
NM_203446.3(SYNJ1):c.2685A>G (p.Thr895=) | 8867 | SYNJ1 | Uncertain significance | rs939655575 | RCV000806394; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029107 | 34029107 | T | C | 21:g.34029107T>C | - | | |
NM_203446.3(SYNJ1):c.2685A>T (p.Thr895=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001497748; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029107 | 34029107 | T | A | 34029107 | - | | |
NM_203446.3(SYNJ1):c.2668G>C (p.Gly890Arg) | 8867 | SYNJ1 | Uncertain significance | rs1187688126 | RCV001071891; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029124 | 34029124 | C | G | 21:g.34029124C>G | - | | |
NM_203446.3(SYNJ1):c.2663T>G (p.Val888Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001941049; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029129 | 34029129 | A | C | 34029129 | - | | |
NM_203446.3(SYNJ1):c.2653G>A (p.Val885Ile) | 8867 | SYNJ1 | Uncertain significance | rs763757097 | RCV000705648; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029139 | 34029139 | C | T | 21:g.34029139C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2631G>C (p.Glu877Asp) | 8867 | SYNJ1 | Uncertain significance | rs375526059 | RCV000655747; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029161 | 34029161 | C | G | 21:g.34029161C>G | ClinGen:CA10003608 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr) | 8867 | SYNJ1 | Uncertain significance | rs753305423 | RCV001222410; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029183 | 34029183 | A | G | 21:g.34029183A>G | - | | |
NM_203446.3(SYNJ1):c.2608A>G (p.Ile870Val) | 8867 | SYNJ1 | Uncertain significance | rs2040476929 | RCV001348225; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029184 | 34029184 | T | C | 34029184 | - | | |
NM_203446.3(SYNJ1):c.2607T>C (p.Asp869=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001465164; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029185 | 34029185 | A | G | 34029185 | - | | |
NM_203446.3(SYNJ1):c.2604A>G (p.Ile868Met) | 8867 | SYNJ1 | Uncertain significance | rs377165480 | RCV000539702; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029188 | 34029188 | T | C | 21:g.34029188T>C | ClinGen:CA10003614 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2603T>C (p.Ile868Thr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001373660; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029189 | 34029189 | A | G | 34029189 | - | | |
NM_203446.3(SYNJ1):c.2597T>C (p.Ile866Thr) | 8867 | SYNJ1 | Uncertain significance | rs114053718 | RCV000655751; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029195 | 34029195 | A | G | NC_000021.8:g.34029195A>G | ClinGen:CA10003616 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2587G>A (p.Val863Ile) | 8867 | SYNJ1 | Likely benign | -1 | RCV001471926; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029205 | 34029205 | C | T | 34029205 | - | | |
NM_203446.3(SYNJ1):c.2586C>T (p.Val862=) | 8867 | SYNJ1 | Likely benign | rs771973400 | RCV000531679; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029206 | 34029206 | G | A | 21:g.34029206G>A | ClinGen:CA10003620 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2580-7C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001402491; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029219 | 34029219 | G | A | 34029219 | - | | |
NM_203446.3(SYNJ1):c.2580-9T>C | 8867 | SYNJ1 | Likely benign | rs1601308461 | RCV000938946|RCV001474685; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029221 | 34029221 | A | G | 21:g.34029221A>G | - | | |
NM_203446.3(SYNJ1):c.2580-14C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002182210; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029226 | 34029226 | G | A | 34029226 | - | | |
NM_203446.3(SYNJ1):c.2580-20A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002204682; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029232 | 34029232 | T | C | 34029232 | - | | |
NM_203446.3(SYNJ1):c.2579+14_2579+15del | 8867 | SYNJ1 | Likely benign | -1 | RCV002174234; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029298 | 34029299 | CTG | C | 34029297 | - | | |
NC_000021.8:g.(?_34029319)_(34031816_?)del | 8867 | SYNJ1 | Likely pathogenic | -1 | RCV002017975; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029319 | 34031816 | na | na | -1 | - | | |
NM_203446.3(SYNJ1):c.2567C>A (p.Thr856Asn) | 8867 | SYNJ1 | Uncertain significance | rs1191504880 | RCV000798550; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029325 | 34029325 | G | T | 21:g.34029325G>T | - | | |
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=) | 8867 | SYNJ1 | Likely benign | rs61756207 | RCV000953864; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029345 | 34029345 | A | G | 21:g.34029345A>G | - | | |
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr) | 8867 | SYNJ1 | Likely benign | rs1601309236 | RCV000938087; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029350 | 34029351 | GC | AA | NC_000021.8:g.34029350_34029351delinsAA | - | | |
NM_203446.3(SYNJ1):c.2525C>T (p.Thr842Ile) | 8867 | SYNJ1 | Uncertain significance | rs370346211 | RCV001065439; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029367 | 34029367 | G | A | 21:g.34029367G>A | - | | |
NM_203446.3(SYNJ1):c.2525C>A (p.Thr842Asn) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001366504; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029367 | 34029367 | G | T | 34029367 | - | | |
NM_203446.3(SYNJ1):c.2524A>G (p.Thr842Ala) | 8867 | SYNJ1 | Uncertain significance | rs779943757 | RCV001237104; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029368 | 34029368 | T | C | 21:g.34029368T>C | - | | |
NM_203446.3(SYNJ1):c.2523G>T (p.Trp841Cys) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001925892; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029369 | 34029369 | C | A | 34029369 | - | | |
NM_203446.3(SYNJ1):c.2520G>A (p.Thr840=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002133123; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029372 | 34029372 | C | T | 34029372 | - | | |
NM_203446.3(SYNJ1):c.2519C>T (p.Thr840Met) | 8867 | SYNJ1 | Uncertain significance | rs560413403 | RCV000793880; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029373 | 34029373 | G | A | 21:g.34029373G>A | - | | |
NM_203446.3(SYNJ1):c.2514G>C (p.Leu838=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002202639; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029378 | 34029378 | C | G | 34029378 | - | | |
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg) | 8867 | SYNJ1 | Uncertain significance | rs748032685 | RCV000997820|RCV001042341|RCV001197985; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029387 | 34029387 | G | T | 21:g.34029387G>T | - | | |
NM_203446.3(SYNJ1):c.2475TCT[1] (p.Leu827del) | 8867 | SYNJ1 | Uncertain significance | rs769856515 | RCV000687857; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029412 | 34029414 | TAGA | T | 21:g.34029412_34029414del | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2473G>T (p.Asp825Tyr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002005239; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029419 | 34029419 | C | A | 34029419 | - | | |
NM_203446.3(SYNJ1):c.2472A>C (p.Leu824=) | 8867 | SYNJ1 | Likely benign | rs1601309726 | RCV000915737|RCV001434092; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029420 | 34029420 | T | G | 21:g.34029420T>G | - | | |
NM_203446.3(SYNJ1):c.2462-6C>A | 8867 | SYNJ1 | Uncertain significance | rs1601309850 | RCV000815447; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029436 | 34029436 | G | T | 21:g.34029436G>T | - | | |
NM_203446.3(SYNJ1):c.2462-10C>G | 8867 | SYNJ1 | Uncertain significance | rs775703634 | RCV000655763; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34029440 | 34029440 | G | C | 21:g.34029440G>C | ClinGen:CA10003656 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2462-19T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002092035; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34029449 | 34029449 | A | G | 34029449 | - | | |
NM_203446.3(SYNJ1):c.2461+4G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001968109; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030022 | 34030022 | C | T | 34030022 | - | | |
NM_203446.3(SYNJ1):c.2453A>G (p.Asp818Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001963723; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34030034 | 34030034 | T | C | 34030034 | - | | |
NM_203446.3(SYNJ1):c.2446C>T (p.Pro816Ser) | 8867 | SYNJ1 | Uncertain significance | rs1473591033 | RCV001326934; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030041 | 34030041 | G | A | 34030041 | - | | |
NM_203446.3(SYNJ1):c.2439G>A (p.Arg813=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001392287; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030048 | 34030048 | C | T | 34030048 | - | | |
NM_203446.3(SYNJ1):c.2403C>T (p.Thr801=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001425188; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34030084 | 34030084 | G | A | 34030084 | - | | |
NM_203446.3(SYNJ1):c.2400C>T (p.Arg800=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002173260; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030087 | 34030087 | G | A | 34030087 | - | | |
NM_203446.3(SYNJ1):c.2399G>A (p.Arg800His) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001907060; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030088 | 34030088 | C | T | 34030088 | - | | |
NM_203446.3(SYNJ1):c.2396G>C (p.Cys799Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001910629; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030091 | 34030091 | C | G | 34030091 | - | | |
NM_203446.3(SYNJ1):c.2386A>G (p.Ser796Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001966910; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34030101 | 34030101 | T | C | 34030101 | - | | |
NM_203446.3(SYNJ1):c.2378A>G (p.Tyr793Cys) | 8867 | SYNJ1 | Uncertain significance | rs1283151166 | RCV000703018; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030109 | 34030109 | T | C | NC_000021.8:g.34030109T>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2373C>T (p.Asp791=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001423380; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34030114 | 34030114 | G | A | 34030114 | - | | |
NM_203446.3(SYNJ1):c.2372A>G (p.Asp791Gly) | 8867 | SYNJ1 | Uncertain significance | rs1195357077 | RCV001347848; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030115 | 34030115 | T | C | 34030115 | - | | |
NM_203446.3(SYNJ1):c.2364G>C (p.Leu788Phe) | 8867 | SYNJ1 | Uncertain significance | rs2040517909 | RCV001040571; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030123 | 34030123 | C | G | 21:g.34030123C>G | - | | |
NM_203446.3(SYNJ1):c.2352T>C (p.Tyr784=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001413761; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030135 | 34030135 | A | G | 34030135 | - | | |
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=) | 8867 | SYNJ1 | Likely benign | rs61753644 | RCV000555768|RCV001591312; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34030141 | 34030141 | C | T | 21:g.34030141C>T | ClinGen:CA10003678 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2337C>G (p.Thr779=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002179345; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030150 | 34030150 | G | C | 34030150 | - | | |
NM_203446.3(SYNJ1):c.2332G>A (p.Val778Ile) | 8867 | SYNJ1 | Uncertain significance | rs762956275 | RCV001307745; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34030155 | 34030155 | C | T | 34030155 | - | | |
NM_203446.3(SYNJ1):c.2325A>G (p.Glu775=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001432448; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34030162 | 34030162 | T | C | 34030162 | - | | |
NM_203446.3(SYNJ1):c.2304+20A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002110660; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037203 | 34037203 | T | C | 34037203 | - | | |
NM_203446.3(SYNJ1):c.2304+9A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001436598; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037214 | 34037214 | T | C | 34037214 | - | | |
NM_203446.3(SYNJ1):c.2302C>G (p.Gln768Glu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001968947; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037225 | 34037225 | G | C | 34037225 | - | | |
NM_203446.3(SYNJ1):c.2296G>T (p.Ala766Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001943934; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037231 | 34037231 | C | A | 34037231 | - | | |
NM_203446.3(SYNJ1):c.2295T>C (p.Asn765=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001461471; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037232 | 34037232 | A | G | 34037232 | - | | |
NM_203446.3(SYNJ1):c.2282T>C (p.Ile761Thr) | 8867 | SYNJ1 | Uncertain significance | rs373953139 | RCV001070349; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037245 | 34037245 | A | G | 21:g.34037245A>G | - | | |
NM_203446.3(SYNJ1):c.2260C>T (p.Leu754Phe) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001888477; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037267 | 34037267 | G | A | 34037267 | - | | |
NM_203446.3(SYNJ1):c.2254G>T (p.Asp752Tyr) | 8867 | SYNJ1 | Uncertain significance | rs145978776 | RCV000695137|RCV001529862; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN517202 | 21 | 34037273 | 34037273 | C | A | 21:g.34037273C>A | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2254del (p.Asp752fs) | 8867 | SYNJ1 | Likely pathogenic | rs2040866242 | RCV001281693; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037273 | 34037273 | TC | T | 34037272 | - | | |
NM_203446.3(SYNJ1):c.2250T>A (p.Asn750Lys) | 8867 | SYNJ1 | Uncertain significance | rs570501803 | RCV000809591; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037277 | 34037277 | A | T | 21:g.34037277A>T | - | | |
NM_203446.3(SYNJ1):c.2236A>C (p.Ile746Leu) | 8867 | SYNJ1 | Uncertain significance | rs2040867077 | RCV001063828; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037291 | 34037291 | T | G | 21:g.34037291T>G | - | | |
NM_203446.3(SYNJ1):c.2226T>A (p.Val742=) | 8867 | SYNJ1 | Benign | rs566533509 | RCV000655770; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037301 | 34037301 | A | T | 21:g.34037301A>T | ClinGen:CA10003708 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2223A>G (p.Glu741=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001429295; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037304 | 34037304 | T | C | 34037304 | - | | |
NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001501400; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037310 | 34037310 | G | A | 34037310 | - | | |
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=) | 8867 | SYNJ1 | Likely benign | rs149236383 | RCV000919206; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037322 | 34037322 | G | A | 21:g.34037322G>A | - | | |
NM_203446.3(SYNJ1):c.2202A>C (p.Arg734=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001494939; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037325 | 34037325 | T | G | 34037325 | - | | |
NM_203446.3(SYNJ1):c.2201G>A (p.Arg734Gln) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001366805; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037326 | 34037326 | C | T | 34037326 | - | | |
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=) | 8867 | SYNJ1 | Likely benign | rs144454116 | RCV000880161; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037355 | 34037355 | A | G | 21:g.34037355A>G | - | | |
NM_203446.3(SYNJ1):c.2171A>G (p.Tyr724Cys) | 8867 | SYNJ1 | Uncertain significance | rs201485861 | RCV000690036; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037356 | 34037356 | T | C | NC_000021.8:g.34037356T>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2165A>C (p.His722Pro) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001875524; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037362 | 34037362 | T | G | 34037362 | - | | |
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=) | 8867 | SYNJ1 | Likely benign | rs112875942 | RCV000915369; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037370 | 34037370 | T | C | 21:g.34037370T>C | - | | |
NM_203446.3(SYNJ1):c.2146-8G>A | 8867 | SYNJ1 | Likely benign | rs759701632 | RCV000655781; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34037389 | 34037389 | C | T | NC_000021.8:g.34037389C>T | ClinGen:CA10003721 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2146-14C>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002085949; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34037395 | 34037395 | G | C | 34037395 | - | | |
NM_203446.3(SYNJ1):c.2145+13T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002199757; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038240 | 34038240 | A | G | 34038240 | - | | |
NM_203446.3(SYNJ1):c.2143A>C (p.Met715Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001991465; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038255 | 34038255 | T | G | 34038255 | - | | |
NM_203446.3(SYNJ1):c.2126G>A (p.Arg709Gln) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001881765; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038272 | 34038272 | C | T | 34038272 | - | | |
NM_203446.3(SYNJ1):c.2125C>G (p.Arg709Gly) | 8867 | SYNJ1 | Uncertain significance | rs2040913777 | RCV001322372; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038273 | 34038273 | G | C | 34038273 | - | | |
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr) | 8867 | SYNJ1 | Conflicting interpretations of pathogenicity | rs147929290 | RCV000655757|RCV001531537; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN517202 | 21 | 34038278 | 34038278 | A | G | 21:g.34038278A>G | ClinGen:CA10003744 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.2113A>G (p.Ile705Val) | 8867 | SYNJ1 | Uncertain significance | rs761614356 | RCV001042712; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038285 | 34038285 | T | C | 21:g.34038285T>C | - | | |
NM_203446.3(SYNJ1):c.2113A>T (p.Ile705Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001365793; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038285 | 34038285 | T | A | 34038285 | - | | |
NM_203446.3(SYNJ1):c.2096A>G (p.Glu699Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002017491; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038302 | 34038302 | T | C | 34038302 | - | | |
NM_203446.3(SYNJ1):c.2090T>C (p.Val697Ala) | 8867 | SYNJ1 | Uncertain significance | rs764946363 | RCV000804235; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038308 | 34038308 | A | G | 21:g.34038308A>G | - | | |
NM_203446.3(SYNJ1):c.2079G>A (p.Gly693=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001454430; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038319 | 34038319 | C | T | 34038319 | - | | |
NM_203446.3(SYNJ1):c.2076A>T (p.Ala692=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001451809; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038322 | 34038322 | T | A | 34038322 | - | | |
NM_203446.3(SYNJ1):c.2055C>T (p.Phe685=) | 8867 | SYNJ1 | Likely benign | rs765857459 | RCV000915564|RCV002065878; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038343 | 34038343 | G | A | 21:g.34038343G>A | - | | |
NM_203446.3(SYNJ1):c.2050T>G (p.Cys684Gly) | 8867 | SYNJ1 | Uncertain significance | rs751110096 | RCV001296998; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038348 | 34038348 | A | C | 34038348 | - | | |
NM_203446.3(SYNJ1):c.2047C>T (p.Leu683Phe) | 8867 | SYNJ1 | Uncertain significance | rs2040916269 | RCV001041815; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038351 | 34038351 | G | A | 21:g.34038351G>A | - | | |
NM_203446.3(SYNJ1):c.2045G>A (p.Ser682Asn) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002023807; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038353 | 34038353 | C | T | 34038353 | - | | |
NM_203446.3(SYNJ1):c.2043C>G (p.Thr681=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002196375; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038355 | 34038355 | G | C | 34038355 | - | | |
NM_203446.3(SYNJ1):c.2037T>C (p.His679=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002193268; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038361 | 34038361 | A | G | 34038361 | - | | |
NM_203446.3(SYNJ1):c.2025A>G (p.Arg675=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001431935; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038373 | 34038373 | T | C | 34038373 | - | | |
NM_203446.3(SYNJ1):c.1996A>G (p.Thr666Ala) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002034196; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038402 | 34038402 | T | C | 34038402 | - | | |
NM_203446.3(SYNJ1):c.1971T>C (p.Thr657=) | 8867 | SYNJ1 | Benign | -1 | RCV001519298; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038427 | 34038427 | A | G | 34038427 | - | | |
NM_203446.3(SYNJ1):c.1968T>C (p.Asp656=) | 8867 | SYNJ1 | Likely benign | rs140112176 | RCV000925322|RCV001499277; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038430 | 34038430 | A | G | 21:g.34038430A>G | - | | |
NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val) | 8867 | SYNJ1 | Uncertain significance | rs2040918972 | RCV001215540; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038437 | 34038437 | G | A | 21:g.34038437G>A | - | | |
NM_203446.3(SYNJ1):c.1959T>G (p.Val653=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002113548; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038439 | 34038439 | A | C | 34038439 | - | | |
NM_203446.3(SYNJ1):c.1957G>A (p.Val653Ile) | 8867 | SYNJ1 | Uncertain significance | rs1456047190 | RCV001050555; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038441 | 34038441 | C | T | 21:g.34038441C>T | - | | |
NM_203446.3(SYNJ1):c.1953-10T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV001412194; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038455 | 34038455 | A | G | 34038455 | - | | |
NM_203446.3(SYNJ1):c.1952+19C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002164001; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038724 | 34038724 | G | A | 34038724 | - | | |
NM_203446.3(SYNJ1):c.1933_1934delinsAG (p.Gln645Arg) | 8867 | SYNJ1 | Uncertain significance | rs1555896707 | RCV000538615; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038761 | 34038762 | TG | CT | NC_000021.8:g.34038761_34038762delinsCT | ClinGen:CA658658885 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1929A>G (p.Arg643=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002071711; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038766 | 34038766 | T | C | 34038766 | - | | |
NM_203446.3(SYNJ1):c.1914G>A (p.Leu638=) | 8867 | SYNJ1 | Benign | rs534908601 | RCV000655771; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038781 | 34038781 | C | T | NC_000021.8:g.34038781C>T | ClinGen:CA10003778 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) | 8867 | SYNJ1 | Conflicting interpretations of pathogenicity | rs373820739 | RCV000527465|RCV000784961|RCV000784962|RCV000784963; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4 | 21 | 34038789 | 34038789 | C | T | NC_000021.8:g.34038789C>T | ClinGen:CA10003779 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1886C>T (p.Ala629Val) | 8867 | SYNJ1 | Uncertain significance | rs773372851 | RCV001245514; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038809 | 34038809 | G | A | 21:g.34038809G>A | - | | |
NM_203446.3(SYNJ1):c.1880T>C (p.Leu627Pro) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001893173; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038815 | 34038815 | A | G | 34038815 | - | | |
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=) | 8867 | SYNJ1 | Likely benign | rs1601348321 | RCV000981561; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038817 | 34038817 | C | T | 21:g.34038817C>T | - | | |
NM_203446.3(SYNJ1):c.1876G>A (p.Val626Met) | 8867 | SYNJ1 | Uncertain significance | rs2040938849 | RCV001039021; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038819 | 34038819 | C | T | 21:g.34038819C>T | - | | |
NM_203446.3(SYNJ1):c.1868A>G (p.Asn623Ser) | 8867 | SYNJ1 | Uncertain significance | rs1298315820 | RCV001346170; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038827 | 34038827 | T | C | 34038827 | - | | |
NM_203446.3(SYNJ1):c.1867A>G (p.Asn623Asp) | 8867 | SYNJ1 | Uncertain significance | rs377719553 | RCV001210497; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038828 | 34038828 | T | C | 21:g.34038828T>C | - | | |
NM_203446.3(SYNJ1):c.1851G>A (p.Lys617=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002171809; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038844 | 34038844 | C | T | 34038844 | - | | |
NM_203446.3(SYNJ1):c.1848G>A (p.Gln616=) | 8867 | SYNJ1 | Likely benign | rs1601348530 | RCV000929655|RCV002066086; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038847 | 34038847 | C | T | 21:g.34038847C>T | - | | |
NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys) | 8867 | SYNJ1 | Uncertain significance | rs2040940591 | RCV001224989; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038849 | 34038849 | G | T | 21:g.34038849G>T | - | | |
NM_203446.3(SYNJ1):c.1835C>A (p.Ala612Asp) | 8867 | SYNJ1 | Uncertain significance | rs2040941103 | RCV001059002; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038860 | 34038860 | G | T | 21:g.34038860G>T | - | | |
NM_203446.3(SYNJ1):c.1832G>T (p.Trp611Leu) | 8867 | SYNJ1 | Uncertain significance | rs1481650772 | RCV000655765; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038863 | 34038863 | C | A | NC_000021.8:g.34038863C>A | ClinGen:CA410081076 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1830C>G (p.Leu610=) | 8867 | SYNJ1 | Likely benign | rs115658799 | RCV000551316; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038865 | 34038865 | G | C | 21:g.34038865G>C | ClinGen:CA10003788 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1825A>C (p.Lys609Gln) | 8867 | SYNJ1 | Uncertain significance | rs760221186 | RCV001341639; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038870 | 34038870 | T | G | 34038870 | - | | |
NM_203446.3(SYNJ1):c.1824G>A (p.Gln608=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002080294; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34038871 | 34038871 | C | T | 34038871 | - | | |
NM_203446.3(SYNJ1):c.1812-10T>A | 8867 | SYNJ1 | Uncertain significance | rs2040942245 | RCV001240182; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038893 | 34038893 | A | T | 21:g.34038893A>T | - | | |
NM_203446.3(SYNJ1):c.1812-16T>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002140136; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34038899 | 34038899 | A | C | 34038899 | - | | |
NM_203446.3(SYNJ1):c.1811+8_1811+9insCTT | 8867 | SYNJ1 | Likely benign | -1 | RCV002142454; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34042589 | 34042590 | C | CAAG | 34042589 | - | | |
NM_203446.3(SYNJ1):c.1811+9G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002124180; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34042589 | 34042589 | C | T | 34042589 | - | | |
NM_203446.3(SYNJ1):c.1811+8A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002142455; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34042590 | 34042590 | T | C | 34042590 | - | | |
NM_203446.3(SYNJ1):c.1800T>C (p.Ile600=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001432872; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34042609 | 34042609 | A | G | 34042609 | - | | |
NM_203446.3(SYNJ1):c.1789G>A (p.Ala597Thr) | 8867 | SYNJ1 | Uncertain significance | rs1601363222 | RCV000795490; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34042620 | 34042620 | C | T | 21:g.34042620C>T | - | | |
NM_203446.3(SYNJ1):c.1744A>G (p.Thr582Ala) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001996697; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34042665 | 34042665 | T | C | 34042665 | - | | |
NM_203446.3(SYNJ1):c.1728T>C (p.Asp576=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001454851; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34042681 | 34042681 | A | G | 34042681 | - | | |
NM_203446.3(SYNJ1):c.1726+18T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002163858; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045632 | 34045632 | A | G | 34045632 | - | | |
NM_203446.3(SYNJ1):c.1726+10_1726+11insA | 8867 | SYNJ1 | Likely benign | -1 | RCV002167087; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045639 | 34045640 | A | AT | 34045639 | - | | |
NM_203446.3(SYNJ1):c.1726+6C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001983845; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045644 | 34045644 | G | A | 34045644 | - | | |
NM_203446.3(SYNJ1):c.1719G>A (p.Glu573=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001499069; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045657 | 34045657 | C | T | 34045657 | - | | |
NM_203446.3(SYNJ1):c.1717G>C (p.Glu573Gln) | 8867 | SYNJ1 | Uncertain significance | rs1057062132 | RCV001209351; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045659 | 34045659 | C | G | 21:g.34045659C>G | - | | |
NM_203446.3(SYNJ1):c.1711A>G (p.Ile571Val) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002030280; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045665 | 34045665 | T | C | 34045665 | - | | |
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=) | 8867 | SYNJ1 | Likely benign | rs1384171922 | RCV000891130; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045669 | 34045669 | A | C | 21:g.34045669A>C | - | | |
NM_203446.3(SYNJ1):c.1701G>C (p.Lys567Asn) | 8867 | SYNJ1 | Uncertain significance | rs147684005 | RCV001319134; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045675 | 34045675 | C | G | 34045675 | - | | |
NM_203446.3(SYNJ1):c.1696_1699del (p.Pro566fs) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001972707; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045677 | 34045680 | TTGGG | T | 34045676 | - | | |
NM_203446.3(SYNJ1):c.1699A>C (p.Lys567Gln) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002002585; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045677 | 34045677 | T | G | 34045677 | - | | |
NM_203446.3(SYNJ1):c.1697C>T (p.Pro566Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001993481; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045679 | 34045679 | G | A | 34045679 | - | | |
NM_203446.3(SYNJ1):c.1671A>G (p.Thr557=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001401524; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045705 | 34045705 | T | C | 34045705 | - | | |
NM_203446.3(SYNJ1):c.1659T>C (p.Phe553=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001399892; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045717 | 34045717 | A | G | 34045717 | - | | |
NM_203446.3(SYNJ1):c.1646G>A (p.Arg549His) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002023806; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045730 | 34045730 | C | T | 34045730 | - | | |
NM_203446.3(SYNJ1):c.1645C>T (p.Arg549Cys) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001905943; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045731 | 34045731 | G | A | 34045731 | - | | |
NM_203446.3(SYNJ1):c.1641A>G (p.Gln547=) | 8867 | SYNJ1 | Likely benign | rs753893833 | RCV000932362|RCV001498069; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045735 | 34045735 | T | C | 21:g.34045735T>C | - | | |
NM_203446.3(SYNJ1):c.1617C>A (p.Thr539=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002199325; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045759 | 34045759 | G | T | 34045759 | - | | |
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=) | 8867 | SYNJ1 | Likely benign | rs150180190 | RCV000977583; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045765 | 34045765 | G | A | 21:g.34045765G>A | - | | |
NM_203446.3(SYNJ1):c.1611C>G (p.Val537=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001492901; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045765 | 34045765 | G | C | 34045765 | - | | |
NM_203446.3(SYNJ1):c.1609G>A (p.Val537Ile) | 8867 | SYNJ1 | Uncertain significance | rs1555898799 | RCV000655753; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045767 | 34045767 | C | T | NC_000021.8:g.34045767C>T | ClinGen:CA410085364 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1603G>A (p.Val535Ile) | 8867 | SYNJ1 | Uncertain significance | rs145712835 | RCV000698348; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045773 | 34045773 | C | T | NC_000021.8:g.34045773C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1601G>A (p.Arg534Gln) | 8867 | SYNJ1 | Uncertain significance | rs750585610 | RCV001300977; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045775 | 34045775 | C | T | 34045775 | - | | |
NM_203446.3(SYNJ1):c.1566G>A (p.Glu522=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002216156; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045810 | 34045810 | C | T | 34045810 | - | | |
NM_203446.3(SYNJ1):c.1555A>G (p.Ser519Gly) | 8867 | SYNJ1 | Uncertain significance | rs148901211 | RCV000538976|RCV001171961; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34045821 | 34045821 | T | C | 21:g.34045821T>C | ClinGen:CA10003845 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1554G>C (p.Lys518Asn) | 8867 | SYNJ1 | Uncertain significance | rs371301276 | RCV000822292; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045822 | 34045822 | C | G | 21:g.34045822C>G | - | | |
NM_203446.3(SYNJ1):c.1546G>A (p.Val516Ile) | 8867 | SYNJ1 | Benign | rs113708828 | RCV000526405; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34045830 | 34045830 | C | T | 21:g.34045830C>T | ClinGen:CA10003848 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1535C>T (p.Ala512Val) | 8867 | SYNJ1 | Likely benign | rs115989459 | RCV000655776; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045841 | 34045841 | G | A | NC_000021.8:g.34045841G>A | ClinGen:CA10003850 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1535-18G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002187603; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34045859 | 34045859 | C | T | 34045859 | - | | |
NM_203446.3(SYNJ1):c.1534+16T>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002099903; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34048626 | 34048626 | A | T | 34048626 | - | | |
NM_203446.3(SYNJ1):c.1534+9T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002099894; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34048633 | 34048633 | A | G | 34048633 | - | | |
NM_203446.3(SYNJ1):c.1534+5A>G | 8867 | SYNJ1 | Uncertain significance | rs367718431 | RCV001062078; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34048637 | 34048637 | T | C | 21:g.34048637T>C | - | | |
NM_203446.3(SYNJ1):c.1511-4A>G | 8867 | SYNJ1 | Likely benign | rs533995497 | RCV000941256; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34048669 | 34048669 | T | C | 21:g.34048669T>C | - | | |
NM_203446.3(SYNJ1):c.1511-5C>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001953207; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34048670 | 34048670 | G | T | 34048670 | - | | |
NM_203446.3(SYNJ1):c.1510+20T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV001895374; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34050935 | 34050935 | A | G | 34050935 | - | | |
NM_203446.3(SYNJ1):c.1510+16_1510+17del | 8867 | SYNJ1 | Benign | -1 | RCV002124774; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34050938 | 34050939 | AAT | A | 34050937 | - | | |
NM_203446.3(SYNJ1):c.1510+13T>A | 8867 | SYNJ1 | Benign | -1 | RCV002115756; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34050942 | 34050942 | A | T | 34050942 | - | | |
NM_203446.3(SYNJ1):c.1508G>A (p.Arg503His) | 8867 | SYNJ1 | Uncertain significance | rs756697570 | RCV000696652; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34050957 | 34050957 | C | T | 21:g.34050957C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1507C>T (p.Arg503Cys) | 8867 | SYNJ1 | Uncertain significance | rs115061921 | RCV000799986; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34050958 | 34050958 | G | A | 21:g.34050958G>A | - | | |
NM_203446.3(SYNJ1):c.1481G>A (p.Arg494Gln) | 8867 | SYNJ1 | Uncertain significance | rs781599934 | RCV000538149; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34050984 | 34050984 | C | T | 21:g.34050984C>T | ClinGen:CA10003896 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1468G>C (p.Ala490Pro) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001866937; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34050997 | 34050997 | C | G | 34050997 | - | | |
NM_203446.3(SYNJ1):c.1466T>C (p.Leu489Ser) | 8867 | SYNJ1 | Uncertain significance | rs1238065971 | RCV000655761; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34050999 | 34050999 | A | G | 21:g.34050999A>G | ClinGen:CA410089203 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1465T>G (p.Leu489Val) | 8867 | SYNJ1 | Uncertain significance | rs1261158817 | RCV001208621; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34051000 | 34051000 | A | C | 21:g.34051000A>C | - | | |
NM_203446.3(SYNJ1):c.1449T>G (p.Asn483Lys) | 8867 | SYNJ1 | Uncertain significance | rs1490214505 | RCV000817025; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34051016 | 34051016 | A | C | 21:g.34051016A>C | - | | |
NM_203446.3(SYNJ1):c.1448A>G (p.Asn483Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002029777; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34051017 | 34051017 | T | C | 34051017 | - | | |
NM_203446.3(SYNJ1):c.1427T>C (p.Ile476Thr) | 8867 | SYNJ1 | Uncertain significance | rs771070426 | RCV001324014; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34051038 | 34051038 | A | G | 34051038 | - | | |
NM_203446.3(SYNJ1):c.1415A>G (p.Lys472Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001925079; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34051050 | 34051050 | T | C | 34051050 | - | | |
NM_203446.3(SYNJ1):c.1404T>C (p.Phe468=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002093747; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34051061 | 34051061 | A | G | 34051061 | - | | |
NM_203446.3(SYNJ1):c.1402T>G (p.Phe468Val) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001962716; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34051063 | 34051063 | A | C | 34051063 | - | | |
NM_203446.3(SYNJ1):c.1400T>A (p.Phe467Tyr) | 8867 | SYNJ1 | Uncertain significance | rs922232672 | RCV001313903; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34051065 | 34051065 | A | T | 34051065 | - | | |
NM_203446.3(SYNJ1):c.1399T>C (p.Phe467Leu) | 8867 | SYNJ1 | Uncertain significance | rs2041510835 | RCV001309541; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34051066 | 34051066 | A | G | 34051066 | - | | |
NM_203446.3(SYNJ1):c.1370G>A (p.Arg457His) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001360277; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34051095 | 34051095 | C | T | 34051095 | - | | |
NM_203446.3(SYNJ1):c.1369C>T (p.Arg457Cys) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001989898; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34051096 | 34051096 | G | A | 34051096 | - | | |
NM_203446.3(SYNJ1):c.1367C>A (p.Ala456Asp) | 8867 | SYNJ1 | Uncertain significance | rs2041512501 | RCV001248168; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34051098 | 34051098 | G | T | 21:g.34051098G>T | - | | |
NM_203446.3(SYNJ1):c.1353+15A>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002071559; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053791 | 34053791 | T | G | 34053791 | - | | |
NM_203446.3(SYNJ1):c.1353+5A>G | 8867 | SYNJ1 | Uncertain significance | rs376825246 | RCV001217662; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053801 | 34053801 | T | C | 21:g.34053801T>C | - | | |
NM_203446.3(SYNJ1):c.1349C>A (p.Ala450Glu) | 8867 | SYNJ1 | Uncertain significance | rs1416896181 | RCV001059202; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053810 | 34053810 | G | T | 21:g.34053810G>T | - | | |
NM_203446.3(SYNJ1):c.1346A>G (p.Lys449Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002021467; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053813 | 34053813 | T | C | 34053813 | - | | |
NM_203446.3(SYNJ1):c.1335T>C (p.Ala445=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002193882; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053824 | 34053824 | A | G | 34053824 | - | | |
NM_203446.3(SYNJ1):c.1323A>G (p.Ala441=) | 8867 | SYNJ1 | Likely benign | rs1468223961 | RCV000976420|RCV001495830; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053836 | 34053836 | T | C | 21:g.34053836T>C | - | | |
NM_203446.3(SYNJ1):c.1318T>C (p.Tyr440His) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001888747; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053841 | 34053841 | A | G | 34053841 | - | | |
NM_203446.3(SYNJ1):c.1315A>G (p.Ile439Val) | 8867 | SYNJ1 | Uncertain significance | rs1569085743 | RCV001315095; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053844 | 34053844 | T | C | 34053844 | - | | |
NM_203446.3(SYNJ1):c.1311T>C (p.Ser437=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001479425; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053848 | 34053848 | A | G | 34053848 | - | | |
NM_203446.3(SYNJ1):c.1306A>G (p.Ile436Val) | 8867 | SYNJ1 | Uncertain significance | rs763870801 | RCV000655754; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053853 | 34053853 | T | C | NC_000021.8:g.34053853T>C | ClinGen:CA10003924 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1291G>A (p.Val431Met) | 8867 | SYNJ1 | Uncertain significance | rs749980859 | RCV000800971; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053868 | 34053868 | C | T | 21:g.34053868C>T | - | | |
NM_203446.3(SYNJ1):c.1290C>T (p.Ser430=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002143337; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053869 | 34053869 | G | A | 34053869 | - | | |
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001389214; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053878 | 34053879 | T | TGA | 34053878 | - | | |
NM_203446.3(SYNJ1):c.1281A>G (p.Ser427=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002166436; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053878 | 34053878 | T | C | 34053878 | - | | |
NM_203446.3(SYNJ1):c.1277G>A (p.Arg426Gln) | 8867 | SYNJ1 | Uncertain significance | rs1601403500 | RCV000997823|RCV001205779; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053882 | 34053882 | C | T | 21:g.34053882C>T | - | | |
NM_203446.3(SYNJ1):c.1265A>C (p.Gln422Pro) | 8867 | SYNJ1 | Uncertain significance | rs1474918219 | RCV001337826; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053894 | 34053894 | T | G | 34053894 | - | | |
NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro) | 8867 | SYNJ1 | Pathogenic | rs1060499619 | RCV000445361; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053900 | 34053900 | C | G | NC_000021.8:g.34053900C>G | ClinGen:CA16609345,OMIM:604297.0002 | C3809824 615530 Parkinson disease 20, early-onset; | |
NM_203446.3(SYNJ1):c.1259G>A (p.Arg420His) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001977051; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053900 | 34053900 | C | T | 34053900 | - | | |
NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001498863; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053902 | 34053902 | A | C | 34053902 | - | | |
NM_203446.3(SYNJ1):c.1256_1257insAACT (p.Arg420fs) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001970065; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053902 | 34053903 | A | AAGTT | 34053902 | - | | |
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=) | 8867 | SYNJ1 | Likely benign | rs111655347 | RCV000915370; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053914 | 34053914 | A | G | 21:g.34053914A>G | - | | |
NM_203446.3(SYNJ1):c.1244C>T (p.Pro415Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001890975; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053915 | 34053915 | G | A | 34053915 | - | | |
NM_203446.3(SYNJ1):c.1228G>C (p.Gly410Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002010621; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053931 | 34053931 | C | G | 34053931 | - | | |
NM_203446.3(SYNJ1):c.1208C>T (p.Ala403Val) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001935047; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053951 | 34053951 | G | A | 34053951 | - | | |
NM_203446.3(SYNJ1):c.1201-2A>G | 8867 | SYNJ1 | Likely pathogenic | rs1569086116 | RCV000691672; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34053960 | 34053960 | T | C | 21:g.34053960T>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1201-3A>T | 8867 | SYNJ1 | Benign | -1 | RCV001518259|RCV001579407|RCV001712932; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN169374|MedGen:CN517202 | 21 | 34053961 | 34053961 | T | A | 34053961 | - | | |
NM_203446.3(SYNJ1):c.1201-16_1201-15del | 8867 | SYNJ1 | Likely benign | -1 | RCV002140139; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053973 | 34053974 | CAA | C | 34053972 | - | | |
NM_203446.3(SYNJ1):c.1201-20T>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002047084; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34053978 | 34053978 | A | C | 34053978 | - | | |
NM_203446.3(SYNJ1):c.1200+6A>C | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001945577; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34056342 | 34056342 | T | G | 34056342 | - | | |
NM_203446.3(SYNJ1):c.1200+2dup | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002000553; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34056345 | 34056346 | T | TA | 34056345 | - | | |
NM_203446.3(SYNJ1):c.1195T>G (p.Leu399Val) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001911846; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34056353 | 34056353 | A | C | 34056353 | - | | |
NM_203446.3(SYNJ1):c.1183G>A (p.Ala395Thr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001825334; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34056365 | 34056365 | C | T | 34056365 | - | | |
NM_203446.3(SYNJ1):c.1182G>A (p.Gln394=) | 8867 | SYNJ1 | Benign | -1 | RCV001520167; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34056366 | 34056366 | C | T | 34056366 | - | | |
NM_203446.3(SYNJ1):c.1179G>T (p.Val393=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001472588; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34056369 | 34056369 | C | A | 34056369 | - | | |
NM_203446.3(SYNJ1):c.1176T>C (p.Ser392=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001421190; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34056372 | 34056372 | A | G | 34056372 | - | | |
NM_203446.3(SYNJ1):c.1167A>G (p.Arg389=) | 8867 | SYNJ1 | Likely benign | rs747274485 | RCV000934741|RCV001432807; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34056381 | 34056381 | T | C | 21:g.34056381T>C | - | | |
NM_203446.3(SYNJ1):c.1157G>A (p.Cys386Tyr) | 8867 | SYNJ1 | Uncertain significance | rs2041732521 | RCV001053016; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34056391 | 34056391 | C | T | 21:g.34056391C>T | - | | |
NM_203446.3(SYNJ1):c.1150T>C (p.Leu384=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001397364; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34056398 | 34056398 | A | G | 34056398 | - | | |
NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly) | 8867 | SYNJ1 | Uncertain significance | rs1163151498 | RCV001046908; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34056422 | 34056422 | T | C | 21:g.34056422T>C | - | | |
NM_203446.3(SYNJ1):c.1119-7G>C | 8867 | SYNJ1 | Likely benign | rs562245468 | RCV000915086|RCV001500573; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34056436 | 34056436 | C | G | 21:g.34056436C>G | - | | |
NM_203446.3(SYNJ1):c.1119-8G>T | 8867 | SYNJ1 | Benign | rs138882423 | RCV000548562|RCV001288849|RCV001595020; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN169374|MedGen:CN517202 | 21 | 34056437 | 34056437 | C | A | 21:g.34056437C>A | ClinGen:CA10003962 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1118+9G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV001427550; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058049 | 34058049 | C | T | 34058049 | - | | |
NM_203446.3(SYNJ1):c.1118+7C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002107387; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058051 | 34058051 | G | A | 34058051 | - | | |
NM_203446.3(SYNJ1):c.1106G>A (p.Ser369Asn) | 8867 | SYNJ1 | Uncertain significance | rs147544792 | RCV000706776; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058070 | 34058070 | C | T | 21:g.34058070C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1100A>G (p.Asn367Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001870392; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058076 | 34058076 | T | C | 34058076 | - | | |
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001387875; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058082 | 34058083 | T | TA | 34058082 | - | | |
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn) | 8867 | SYNJ1 | Benign | rs533216340 | RCV000908890; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058095 | 34058095 | A | T | 21:g.34058095A>T | - | | |
NM_203446.3(SYNJ1):c.1055A>C (p.Lys352Thr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002024517; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058121 | 34058121 | T | G | 34058121 | - | | |
NM_203446.3(SYNJ1):c.1047T>C (p.Ser349=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002161302; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058129 | 34058129 | A | G | 34058129 | - | | |
NM_203446.3(SYNJ1):c.1046G>T (p.Ser349Ile) | 8867 | SYNJ1 | Uncertain significance | rs748368610 | RCV001226521; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058130 | 34058130 | C | A | 21:g.34058130C>A | - | | |
NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly) | 8867 | SYNJ1 | Likely benign | -1 | RCV001441239; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058131 | 34058131 | T | C | 34058131 | - | | |
NM_203446.3(SYNJ1):c.1042C>A (p.His348Asn) | 8867 | SYNJ1 | Uncertain significance | rs2041820050 | RCV001229270; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058134 | 34058134 | G | T | 21:g.34058134G>T | - | | |
NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr) | 8867 | SYNJ1 | Likely benign | rs114942253 | RCV000535919|RCV001086242; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058146 | 34058146 | C | T | NC_000021.8:g.34058146C>T | ClinGen:CA10003981 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1017T>C (p.Val339=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001504874; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058159 | 34058159 | A | G | 34058159 | - | | |
NM_203446.3(SYNJ1):c.1005TCA[3] (p.His336dup) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002005141; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058165 | 34058166 | T | TTGA | 34058165 | - | | |
NM_203446.3(SYNJ1):c.1004A>C (p.Tyr335Ser) | 8867 | SYNJ1 | Uncertain significance | rs1469620917 | RCV000823534; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058172 | 34058172 | T | G | 21:g.34058172T>G | - | | |
NM_203446.3(SYNJ1):c.1002C>T (p.Asp334=) | 8867 | SYNJ1 | Likely benign | rs763601982 | RCV000560027; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058174 | 34058174 | G | A | 21:g.34058174G>A | ClinGen:CA319447596 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.1001A>G (p.Asp334Gly) | 8867 | SYNJ1 | Benign | -1 | RCV001815639|RCV001816030; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058175 | 34058175 | T | C | 34058175 | - | | |
NM_203446.3(SYNJ1):c.988A>T (p.Met330Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001365865; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058188 | 34058188 | T | A | 34058188 | - | | |
NM_203446.3(SYNJ1):c.981T>C (p.Asp327=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001408810; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058195 | 34058195 | A | G | 34058195 | - | | |
NM_203446.3(SYNJ1):c.976G>T (p.Ala326Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002009732; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058200 | 34058200 | C | A | 34058200 | - | | |
NM_203446.3(SYNJ1):c.969A>G (p.Glu323=) | 8867 | SYNJ1 | Likely benign | rs1601418926 | RCV000944205|RCV001476495; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058207 | 34058207 | T | C | 21:g.34058207T>C | - | | |
NM_203446.3(SYNJ1):c.952C>A (p.His318Asn) | 8867 | SYNJ1 | Uncertain significance | rs2041822657 | RCV001351416; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058224 | 34058224 | G | T | 34058224 | - | | |
NM_203446.3(SYNJ1):c.949-31_949-2del | 8867 | SYNJ1 | Likely benign | rs1281313151 | RCV000931704|RCV001505970; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34058229 | 34058258 | CTGAAAGTAAAAAGGCAAATATTCATCTAAA | C | 21:g.34058229_34058258del | - | | |
NM_203446.3(SYNJ1):c.949-9del | 8867 | SYNJ1 | Benign | -1 | RCV002089593; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058236 | 34058236 | TA | T | 34058235 | - | | |
NM_203446.3(SYNJ1):c.949-15C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002213878; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34058242 | 34058242 | G | A | 34058242 | - | | |
NM_203446.3(SYNJ1):c.948+7A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001392285; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059281 | 34059281 | T | C | 34059281 | - | | |
NM_203446.3(SYNJ1):c.948G>C (p.Gln316His) | 8867 | SYNJ1 | Uncertain significance | rs1569093889 | RCV001307078; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34059288 | 34059288 | C | G | 34059288 | - | | |
NM_203446.3(SYNJ1):c.930G>A (p.Met310Ile) | 8867 | SYNJ1 | Uncertain significance | rs749045961 | RCV000697724; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34059306 | 34059306 | C | T | 21:g.34059306C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.924A>G (p.Glu308=) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001904063; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34059312 | 34059312 | T | C | 34059312 | - | | |
NM_203446.3(SYNJ1):c.914A>C (p.Lys305Thr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001908356; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34059322 | 34059322 | T | G | 34059322 | - | | |
NM_203446.3(SYNJ1):c.909A>G (p.Gly303=) | 8867 | SYNJ1 | Likely benign | rs145522240 | RCV000542163|RCV001726247; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34059327 | 34059327 | T | C | 21:g.34059327T>C | ClinGen:CA10004004 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val) | 8867 | SYNJ1 | Uncertain significance | rs775110785 | RCV001242296; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34059347 | 34059347 | T | C | 21:g.34059347T>C | - | | |
NM_203446.3(SYNJ1):c.887A>G (p.Gln296Arg) | 8867 | SYNJ1 | Uncertain significance | rs2041858912 | RCV001341052; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059349 | 34059349 | T | C | 34059349 | - | | |
NM_203446.3(SYNJ1):c.885A>G (p.Lys295=) | 8867 | SYNJ1 | Conflicting interpretations of pathogenicity | -1 | RCV001816312|RCV001869645; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059351 | 34059351 | T | C | 34059351 | - | | |
NM_203446.3(SYNJ1):c.884A>G (p.Lys295Arg) | 8867 | SYNJ1 | Benign | rs2254562 | RCV000713723|RCV001522161|RCV001579568; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MedGen:CN169374 | 21 | 34059352 | 34059352 | T | C | NC_000021.8:g.34059352T>C | - | | |
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln) | 8867 | SYNJ1 | Likely benign | rs554456240 | RCV000878467; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059353 | 34059353 | T | G | 21:g.34059353T>G | - | | |
NM_203446.3(SYNJ1):c.877T>C (p.Tyr293His) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002047275; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34059359 | 34059359 | A | G | 34059359 | - | | |
NM_203446.3(SYNJ1):c.873C>T (p.Asn291=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001493113; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059363 | 34059363 | G | A | 34059363 | - | | |
NM_203446.3(SYNJ1):c.868A>G (p.Lys290Glu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001867538; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059368 | 34059368 | T | C | 34059368 | - | | |
NM_203446.3(SYNJ1):c.862A>C (p.Thr288Pro) | 8867 | SYNJ1 | Uncertain significance | rs571120951 | RCV001205807; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059374 | 34059374 | T | G | 21:g.34059374T>G | - | | |
NM_203446.3(SYNJ1):c.856T>C (p.Phe286Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001361350; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059380 | 34059380 | A | G | 34059380 | - | | |
NM_203446.3(SYNJ1):c.852-10_852-7del | 8867 | SYNJ1 | Likely benign | -1 | RCV002134630; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059391 | 34059394 | TAAGA | T | 34059390 | - | | |
NM_203446.3(SYNJ1):c.852-20T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002210775; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34059404 | 34059404 | A | G | 34059404 | - | | |
NM_203446.3(SYNJ1):c.851+20G>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002082277; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34060596 | 34060596 | C | G | 34060596 | - | | |
NM_203446.3(SYNJ1):c.851+10T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV001427938; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060606 | 34060606 | A | G | 34060606 | - | | |
NM_203446.3(SYNJ1):c.851+5G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001915740; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34060611 | 34060611 | C | T | 34060611 | - | | |
NM_203446.3(SYNJ1):c.851G>A (p.Arg284Lys) | 8867 | SYNJ1 | Conflicting interpretations of pathogenicity | rs565013600 | RCV000624913|RCV000997825|RCV001489751; | N | MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060616 | 34060616 | C | T | 21:g.34060616C>T | ClinGen:CA10004028 | C0950123 Inborn genetic diseases; | |
NM_203446.3(SYNJ1):c.846T>G (p.Phe282Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001889283; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34060621 | 34060621 | A | C | 34060621 | - | | |
NM_203446.3(SYNJ1):c.843T>C (p.Ala281=) | 8867 | SYNJ1 | Likely benign | rs372016074 | RCV000534789; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060624 | 34060624 | A | G | 21:g.34060624A>G | ClinGen:CA10004029 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.842C>G (p.Ala281Gly) | 8867 | SYNJ1 | Uncertain significance | rs1046699971 | RCV000527006; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060625 | 34060625 | G | C | 21:g.34060625G>C | ClinGen:CA410094159 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.842C>T (p.Ala281Val) | 8867 | SYNJ1 | Uncertain significance | rs1046699971 | RCV001298658; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060625 | 34060625 | G | A | 34060625 | - | | |
NM_203446.3(SYNJ1):c.841G>C (p.Ala281Pro) | 8867 | SYNJ1 | Uncertain significance | rs2041902084 | RCV001235058; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34060626 | 34060626 | C | G | 21:g.34060626C>G | - | | |
NM_203446.3(SYNJ1):c.834T>C (p.Asn278=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002091953; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060633 | 34060633 | A | G | 34060633 | - | | |
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=) | 8867 | SYNJ1 | Likely benign | rs148732160 | RCV000904198; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060636 | 34060636 | G | A | 21:g.34060636G>A | - | | |
NM_203446.3(SYNJ1):c.809G>A (p.Arg270His) | 8867 | SYNJ1 | Uncertain significance | rs532075408 | RCV000655750; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34060658 | 34060658 | C | T | NC_000021.8:g.34060658C>T | ClinGen:CA10004035 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.809G>T (p.Arg270Leu) | 8867 | SYNJ1 | Uncertain significance | rs532075408 | RCV001297019; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060658 | 34060658 | C | A | 34060658 | - | | |
NM_203446.3(SYNJ1):c.808C>T (p.Arg270Cys) | 8867 | SYNJ1 | Uncertain significance | rs547450707 | RCV000550869; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060659 | 34060659 | G | A | 21:g.34060659G>A | ClinGen:CA10004036 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His) | 8867 | SYNJ1 | Uncertain significance | rs201796096 | RCV000699530|RCV001197963; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34060664 | 34060664 | C | T | 21:g.34060664C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.802C>T (p.Arg268Cys) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002020634; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060665 | 34060665 | G | A | 34060665 | - | | |
NM_203446.3(SYNJ1):c.790-6T>G | 8867 | SYNJ1 | Uncertain significance | rs2041904445 | RCV001214753; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060683 | 34060683 | A | C | 21:g.34060683A>C | - | | |
NM_203446.3(SYNJ1):c.790-18A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002143389; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34060695 | 34060695 | T | C | 34060695 | - | | |
NM_203446.3(SYNJ1):c.790-20A>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001866563; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34060697 | 34060697 | T | C | 34060697 | - | | |
NM_203446.3(SYNJ1):c.789+8_789+11del | 8867 | SYNJ1 | Likely benign | rs751922511 | RCV000900088; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066527 | 34066530 | TCAAA | T | 21:g.34066527_34066530del | - | | |
NM_203446.3(SYNJ1):c.789+10T>C | 8867 | SYNJ1 | Likely benign | rs1601446146 | RCV000919905|RCV001446175; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066528 | 34066528 | A | G | 21:g.34066528A>G | - | | |
NM_203446.3(SYNJ1):c.789+4T>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002051428; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34066534 | 34066534 | A | T | 34066534 | - | | |
NM_203446.3(SYNJ1):c.789+1G>A | 8867 | SYNJ1 | Likely pathogenic | rs2042124608 | RCV001236322; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34066537 | 34066537 | C | T | 21:g.34066537C>T | - | | |
NM_203446.3(SYNJ1):c.786G>T (p.Leu262Phe) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001945648; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066541 | 34066541 | C | A | 34066541 | - | | |
NM_203446.3(SYNJ1):c.768C>G (p.Phe256Leu) | 8867 | SYNJ1 | Uncertain significance | rs1456955061 | RCV000822274; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34066559 | 34066559 | G | C | 21:g.34066559G>C | - | | |
NM_203446.3(SYNJ1):c.762A>G (p.Pro254=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001431681; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066565 | 34066565 | T | C | 34066565 | - | | |
NM_203446.3(SYNJ1):c.759T>G (p.Val253=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002100332; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34066568 | 34066568 | A | C | 34066568 | - | | |
NM_203446.3(SYNJ1):c.749G>A (p.Arg250Gln) | 8867 | SYNJ1 | Uncertain significance | rs762909719 | RCV001208004; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066578 | 34066578 | C | T | 21:g.34066578C>T | - | | |
NM_203446.3(SYNJ1):c.748C>T (p.Arg250Ter) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001946790; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34066579 | 34066579 | G | A | 34066579 | - | | |
NM_203446.3(SYNJ1):c.747C>T (p.Ile249=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001433808; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34066580 | 34066580 | G | A | 34066580 | - | | |
NM_203446.3(SYNJ1):c.741A>G (p.Ile247Met) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001366829; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066586 | 34066586 | T | C | 34066586 | - | | |
NM_203446.3(SYNJ1):c.727G>T (p.Val243Phe) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001959684; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34066600 | 34066600 | C | A | 34066600 | - | | |
NM_203446.3(SYNJ1):c.711G>A (p.Val237=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001500249; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066616 | 34066616 | C | T | 34066616 | - | | |
NM_203446.3(SYNJ1):c.706-15dup | 8867 | SYNJ1 | Benign | rs202044634 | RCV000655779; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34066627 | 34066628 | G | GA | 21:g.34066627_34066628insA | ClinGen:CA10004067 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.706-7del | 8867 | SYNJ1 | Benign | rs202044634 | RCV000976426; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066628 | 34066628 | GA | G | 21:g.34066628_34066628del | - | | |
NM_203446.3(SYNJ1):c.706-7T>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002119777; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066628 | 34066628 | A | G | 34066628 | - | | |
NM_203446.3(SYNJ1):c.706-8T>C | 8867 | SYNJ1 | Likely benign | rs752261171 | RCV000943662|RCV001450759; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066629 | 34066629 | A | G | 21:g.34066629A>G | - | | |
NM_203446.3(SYNJ1):c.706-11T>C | 8867 | SYNJ1 | Benign | -1 | RCV002074782; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066632 | 34066632 | A | G | 34066632 | - | | |
NM_203446.3(SYNJ1):c.706-19A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002176712; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34066640 | 34066640 | T | C | 34066640 | - | | |
NM_203446.3(SYNJ1):c.705+17A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002147999; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067350 | 34067350 | T | C | 34067350 | - | | |
NM_203446.3(SYNJ1):c.705+9A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV001505210; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067358 | 34067358 | T | C | 34067358 | - | | |
NM_203446.3(SYNJ1):c.705+7A>G | 8867 | SYNJ1 | Benign | rs187016397 | RCV000713737|RCV001082091; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067360 | 34067360 | T | C | 21:g.34067360T>C | ClinGen:CA10004091 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.691G>T (p.Val231Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001918028; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067381 | 34067381 | C | A | 34067381 | - | | |
NM_203446.3(SYNJ1):c.690T>G (p.Phe230Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001888216; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067382 | 34067382 | A | C | 34067382 | - | | |
NM_203446.3(SYNJ1):c.685A>C (p.Asn229His) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001910869; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067387 | 34067387 | T | G | 34067387 | - | | |
NM_203446.3(SYNJ1):c.684C>T (p.Ala228=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002083266; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067388 | 34067388 | G | A | 34067388 | - | | |
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) | 8867 | SYNJ1 | Pathogenic | rs398122403 | RCV000074432|RCV001854269; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067416 | 34067416 | C | T | 21:g.34067416C>T | ClinGen:CA145358,OMIM:604297.0001 | C3809824 615530 Parkinson disease 20, early-onset; | |
NM_203446.3(SYNJ1):c.652G>A (p.Val218Ile) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001924082; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067420 | 34067420 | C | T | 34067420 | - | | |
NM_203446.3(SYNJ1):c.630A>T (p.Glu210Asp) | 8867 | SYNJ1 | Uncertain significance | rs1377390036 | RCV000690772; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067442 | 34067442 | T | A | 21:g.34067442T>A | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.622A>G (p.Ser208Gly) | 8867 | SYNJ1 | Uncertain significance | rs1601449471 | RCV000801143; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067450 | 34067450 | T | C | 21:g.34067450T>C | - | | |
NM_203446.3(SYNJ1):c.614C>T (p.Ser205Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001927565; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067458 | 34067458 | G | A | 34067458 | - | | |
NM_203446.3(SYNJ1):c.601G>T (p.Ala201Ser) | 8867 | SYNJ1 | Uncertain significance | rs371958110 | RCV001322458; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067471 | 34067471 | C | A | 34067471 | - | | |
NM_203446.3(SYNJ1):c.601G>C (p.Ala201Pro) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002010334; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067471 | 34067471 | C | G | 34067471 | - | | |
NM_203446.3(SYNJ1):c.597G>A (p.Ala199=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001499264; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067475 | 34067475 | C | T | 34067475 | - | | |
NM_203446.3(SYNJ1):c.592C>A (p.Gln198Lys) | 8867 | SYNJ1 | Uncertain significance | rs771210989 | RCV001209987; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067480 | 34067480 | G | T | 21:g.34067480G>T | - | | |
NM_203446.3(SYNJ1):c.583G>A (p.Ala195Thr) | 8867 | SYNJ1 | Uncertain significance | rs774367309 | RCV000808944; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067489 | 34067489 | C | T | 21:g.34067489C>T | - | | |
NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His) | 8867 | SYNJ1 | Uncertain significance | rs2042158818 | RCV001281694; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067495 | 34067495 | A | G | 34067495 | - | | |
NM_203446.3(SYNJ1):c.574A>G (p.Ile192Val) | 8867 | SYNJ1 | Uncertain significance | rs2042159051 | RCV001318324; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067498 | 34067498 | T | C | 34067498 | - | | |
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=) | 8867 | SYNJ1 | Benign/Likely benign | rs61756694 | RCV000713736|RCV001081845; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067499 | 34067499 | T | C | NC_000021.8:g.34067499T>C | ClinGen:CA10004106 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.564A>C (p.Glu188Asp) | 8867 | SYNJ1 | Uncertain significance | rs1423467857 | RCV001049838; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067508 | 34067508 | T | G | 21:g.34067508T>G | - | | |
NM_203446.3(SYNJ1):c.559G>A (p.Val187Ile) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001360141; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067513 | 34067513 | C | T | 34067513 | - | | |
NM_203446.3(SYNJ1):c.550T>A (p.Cys184Ser) | 8867 | SYNJ1 | Uncertain significance | rs903887015 | RCV001229562; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067522 | 34067522 | A | T | 21:g.34067522A>T | - | | |
NM_203446.3(SYNJ1):c.549G>T (p.Met183Ile) | 8867 | SYNJ1 | Uncertain significance | rs760573856 | RCV001295049; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067523 | 34067523 | C | A | 34067523 | - | | |
NM_203446.3(SYNJ1):c.549G>A (p.Met183Ile) | 8867 | SYNJ1 | Uncertain significance | rs760573856 | RCV001315720; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067523 | 34067523 | C | T | 34067523 | - | | |
NM_203446.3(SYNJ1):c.542G>A (p.Arg181His) | 8867 | SYNJ1 | Uncertain significance | rs763977309 | RCV001244430; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067530 | 34067530 | C | T | 21:g.34067530C>T | - | | |
NM_203446.3(SYNJ1):c.537A>G (p.Leu179=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002204922; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067535 | 34067535 | T | C | 34067535 | - | | |
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu) | 8867 | SYNJ1 | Uncertain significance | rs1277503442 | RCV001315426; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067544 | 34067544 | A | T | 34067544 | - | | |
NM_203446.3(SYNJ1):c.517G>A (p.Val173Met) | 8867 | SYNJ1 | Uncertain significance | rs756663722 | RCV001302794; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067555 | 34067555 | C | T | 34067555 | - | | |
NM_203446.3(SYNJ1):c.494A>G (p.His165Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002012245; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067578 | 34067578 | T | C | 34067578 | - | | |
NM_203446.3(SYNJ1):c.480-5A>G | 8867 | SYNJ1 | Likely benign | rs1001176616 | RCV000906501|RCV002065745; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34067597 | 34067597 | T | C | 21:g.34067597T>C | - | | |
NM_203446.3(SYNJ1):c.480-7C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002190645; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067599 | 34067599 | G | A | 34067599 | - | | |
NM_203446.3(SYNJ1):c.480-17A>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002145552; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067609 | 34067609 | T | G | 34067609 | - | | |
NM_203446.3(SYNJ1):c.480-18T>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002190057; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34067610 | 34067610 | A | C | 34067610 | - | | |
NC_000021.8:g.(?_34072128)_(34074377_?)del | 8867 | SYNJ1 | Pathogenic | -1 | RCV001956528; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072128 | 34074377 | na | na | -1 | - | | |
NM_203446.3(SYNJ1):c.479+13T>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002094585; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072135 | 34072135 | A | T | 34072135 | - | | |
NM_203446.3(SYNJ1):c.479+9A>G | 8867 | SYNJ1 | Benign | rs76502784 | RCV000545547|RCV000713735; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34072139 | 34072139 | T | C | NC_000021.8:g.34072139T>C | ClinGen:CA10004128 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.470G>C (p.Arg157Thr) | 8867 | SYNJ1 | Uncertain significance | rs375831365 | RCV000707208; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072157 | 34072157 | C | G | NC_000021.8:g.34072157C>G | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.463G>A (p.Asp155Asn) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001910137; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072164 | 34072164 | C | T | 34072164 | - | | |
NM_203446.3(SYNJ1):c.462T>A (p.Thr154=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001505237; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072165 | 34072165 | A | T | 34072165 | - | | |
NM_203446.3(SYNJ1):c.455A>G (p.Gln152Arg) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001370362; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072172 | 34072172 | T | C | 34072172 | - | | |
NM_203446.3(SYNJ1):c.447G>T (p.Met149Ile) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001942401; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072180 | 34072180 | C | A | 34072180 | - | | |
NM_203446.3(SYNJ1):c.443G>A (p.Ser148Asn) | 8867 | SYNJ1 | Uncertain significance | rs2042337641 | RCV001223144; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072184 | 34072184 | C | T | 21:g.34072184C>T | - | | |
NM_203446.3(SYNJ1):c.440G>A (p.Arg147His) | 8867 | SYNJ1 | Uncertain significance | rs749741780 | RCV001313317; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072187 | 34072187 | C | T | 34072187 | - | | |
NM_203446.3(SYNJ1):c.439C>T (p.Arg147Cys) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002014380; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072188 | 34072188 | G | A | 34072188 | - | | |
NM_203446.3(SYNJ1):c.437A>G (p.His146Arg) | 8867 | SYNJ1 | Uncertain significance | rs2042338087 | RCV001319551; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072190 | 34072190 | T | C | 34072190 | - | | |
NM_203446.3(SYNJ1):c.435G>A (p.Ala145=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001481465; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072192 | 34072192 | C | T | 34072192 | - | | |
NM_203446.3(SYNJ1):c.435G>T (p.Ala145=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002080488; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072192 | 34072192 | C | A | 34072192 | - | | |
NM_203446.3(SYNJ1):c.434C>T (p.Ala145Val) | 8867 | SYNJ1 | Uncertain significance | rs111886678 | RCV001214796; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072193 | 34072193 | G | A | 21:g.34072193G>A | - | | |
NM_203446.3(SYNJ1):c.434C>G (p.Ala145Gly) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001895169; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072193 | 34072193 | G | C | 34072193 | - | | |
NM_203446.3(SYNJ1):c.431A>C (p.Asn144Thr) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001906124; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072196 | 34072196 | T | G | 34072196 | - | | |
NM_203446.3(SYNJ1):c.429T>C (p.Leu143=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002211783; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072198 | 34072198 | A | G | 34072198 | - | | |
NM_203446.3(SYNJ1):c.425G>A (p.Ser142Asn) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001886770; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072202 | 34072202 | C | T | 34072202 | - | | |
NM_203446.3(SYNJ1):c.421T>C (p.Leu141=) | 8867 | SYNJ1 | Likely benign | rs140461566 | RCV000537465; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072206 | 34072206 | A | G | 21:g.34072206A>G | ClinGen:CA10004143 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.409A>G (p.Ile137Val) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002006991; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072218 | 34072218 | T | C | 34072218 | - | | |
NM_203446.3(SYNJ1):c.409A>T (p.Ile137Phe) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001906538; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072218 | 34072218 | T | A | 34072218 | - | | |
NM_203446.3(SYNJ1):c.407G>A (p.Gly136Asp) | 8867 | SYNJ1 | Uncertain significance | rs771507886 | RCV001068914; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072220 | 34072220 | C | T | 21:g.34072220C>T | - | | |
NM_203446.3(SYNJ1):c.406G>A (p.Gly136Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001896341; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072221 | 34072221 | C | T | 34072221 | - | | |
NM_203446.3(SYNJ1):c.395G>A (p.Trp132Ter) | 8867 | SYNJ1 | Pathogenic | rs1555907463 | RCV000664071; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072232 | 34072232 | C | T | NC_000021.8:g.34072232C>T | - | C3809824 615530 Parkinson disease 20, early-onset; | |
NM_203446.3(SYNJ1):c.387T>C (p.Tyr129=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002179179; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072240 | 34072240 | A | G | 34072240 | - | | |
NM_203446.3(SYNJ1):c.359G>A (p.Arg120Gln) | 8867 | SYNJ1 | Uncertain significance | rs768435291 | RCV001327132|RCV001773654; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34072268 | 34072268 | C | T | 34072268 | - | | |
NM_203446.3(SYNJ1):c.356T>C (p.Val119Ala) | 8867 | SYNJ1 | Uncertain significance | rs2042341669 | RCV001065451; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072271 | 34072271 | A | G | 21:g.34072271A>G | - | | |
NM_203446.3(SYNJ1):c.351A>G (p.Ser117=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002101091; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072276 | 34072276 | T | C | 34072276 | - | | |
NM_203446.3(SYNJ1):c.345del (p.Ile116fs) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001919494; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072282 | 34072282 | TG | T | 34072281 | - | | |
NM_203446.3(SYNJ1):c.344G>T (p.Arg115Leu) | 8867 | SYNJ1 | Uncertain significance | rs951976946 | RCV001205777; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072283 | 34072283 | C | A | 21:g.34072283C>A | - | | |
NM_203446.3(SYNJ1):c.344G>A (p.Arg115His) | 8867 | SYNJ1 | Uncertain significance | rs951976946 | RCV001300626; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072283 | 34072283 | C | T | 34072283 | - | | |
NM_203446.3(SYNJ1):c.343C>T (p.Arg115Cys) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001786871|RCV001868886; | N | MedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072284 | 34072284 | G | A | 34072284 | - | | |
NM_203446.3(SYNJ1):c.326A>T (p.Asp109Val) | 8867 | SYNJ1 | Uncertain significance | rs764528223 | RCV000796372; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072301 | 34072301 | T | A | 21:g.34072301T>A | - | | |
NM_203446.3(SYNJ1):c.324C>T (p.Ile108=) | 8867 | SYNJ1 | Likely benign | rs551070196 | RCV000904515|RCV001463521; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072303 | 34072303 | G | A | 21:g.34072303G>A | - | | |
NM_203446.3(SYNJ1):c.320G>A (p.Arg107Gln) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001888034; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072307 | 34072307 | C | T | 34072307 | - | | |
NM_203446.3(SYNJ1):c.313T>C (p.Ser105Pro) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002049374; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072314 | 34072314 | A | G | 34072314 | - | | |
NM_203446.3(SYNJ1):c.311T>C (p.Ile104Thr) | 8867 | SYNJ1 | Uncertain significance | rs779426150 | RCV000655748; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072316 | 34072316 | A | G | NC_000021.8:g.34072316A>G | ClinGen:CA10004158 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.303T>C (p.Thr101=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001439965; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072324 | 34072324 | A | G | 34072324 | - | | |
NM_203446.3(SYNJ1):c.301A>T (p.Thr101Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001950285; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072326 | 34072326 | T | A | 34072326 | - | | |
NM_203446.3(SYNJ1):c.295A>G (p.Thr99Ala) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001926672; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072332 | 34072332 | T | C | 34072332 | - | | |
NM_203446.3(SYNJ1):c.295del (p.Thr99fs) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001931914; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072332 | 34072332 | GT | G | 34072331 | - | | |
NM_203446.3(SYNJ1):c.290G>A (p.Arg97Gln) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001919639; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072337 | 34072337 | C | T | 34072337 | - | | |
NM_203446.3(SYNJ1):c.255G>T (p.Met85Ile) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001954479; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072372 | 34072372 | C | A | 34072372 | - | | |
NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys) | 8867 | SYNJ1 | Uncertain significance | rs2042345500 | RCV001041336; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072373 | 34072373 | A | T | 21:g.34072373A>T | - | | |
NM_203446.3(SYNJ1):c.244A>T (p.Thr82Ser) | 8867 | SYNJ1 | Uncertain significance | rs2042346087 | RCV001069394; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072383 | 34072383 | T | A | 21:g.34072383T>A | - | | |
NM_203446.3(SYNJ1):c.243C>T (p.Val81=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002162311; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34072384 | 34072384 | G | A | 34072384 | - | | |
NM_203446.3(SYNJ1):c.225A>C (p.Leu75Phe) | 8867 | SYNJ1 | Uncertain significance | rs2042346717 | RCV001308259; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072402 | 34072402 | T | G | 34072402 | - | | |
NM_203446.3(SYNJ1):c.220A>G (p.Met74Val) | 8867 | SYNJ1 | Uncertain significance | rs762562029 | RCV001056698; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072407 | 34072407 | T | C | 21:g.34072407T>C | - | | |
NM_203446.3(SYNJ1):c.212G>A (p.Gly71Asp) | 8867 | SYNJ1 | Uncertain significance | rs1438911029 | RCV001056802; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34072415 | 34072415 | C | T | 21:g.34072415C>T | - | | |
NM_203446.3(SYNJ1):c.211+19A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002089060; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074252 | 34074252 | T | C | 34074252 | - | | |
NM_203446.3(SYNJ1):c.211G>C (p.Gly71Arg) | 8867 | SYNJ1 | Uncertain significance | rs1569113660 | RCV000685571; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34074271 | 34074271 | C | G | 21:g.34074271C>G | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.200G>A (p.Arg67Gln) | 8867 | SYNJ1 | Uncertain significance | rs969446324 | RCV000803592; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34074282 | 34074282 | C | T | 21:g.34074282C>T | - | | |
NM_203446.3(SYNJ1):c.199C>T (p.Arg67Trp) | 8867 | SYNJ1 | Uncertain significance | rs372488661 | RCV000655745; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34074283 | 34074283 | G | A | 21:g.34074283G>A | ClinGen:CA10004185 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.193G>A (p.Val65Ile) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001363699; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074289 | 34074289 | C | T | 34074289 | - | | |
NM_203446.3(SYNJ1):c.177A>G (p.Ala59=) | 8867 | SYNJ1 | Uncertain significance | rs749212329 | RCV000822850; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34074305 | 34074305 | T | C | 21:g.34074305T>C | - | | |
NM_203446.3(SYNJ1):c.165A>G (p.Lys55=) | 8867 | SYNJ1 | Likely benign | rs141138675 | RCV000655778; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34074317 | 34074317 | T | C | NC_000021.8:g.34074317T>C | ClinGen:CA10004189 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.162C>T (p.Ser54=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001408445; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074320 | 34074320 | G | A | 34074320 | - | | |
NM_203446.3(SYNJ1):c.161C>T (p.Ser54Phe) | 8867 | SYNJ1 | Uncertain significance | rs2042421673 | RCV001340179; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074321 | 34074321 | G | A | 34074321 | - | | |
NM_203446.3(SYNJ1):c.156A>G (p.Thr52=) | 8867 | SYNJ1 | Uncertain significance | rs144728528 | RCV001307009; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34074326 | 34074326 | T | C | 34074326 | - | | |
NM_203446.3(SYNJ1):c.150G>A (p.Lys50=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001491432; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074332 | 34074332 | C | T | 34074332 | - | | |
NM_203446.3(SYNJ1):c.133G>A (p.Glu45Lys) | 8867 | SYNJ1 | Uncertain significance | rs2042422640 | RCV001054657; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34074349 | 34074349 | C | T | 21:g.34074349C>T | - | | |
NM_203446.3(SYNJ1):c.130G>T (p.Ala44Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001957706; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074352 | 34074352 | C | A | 34074352 | - | | |
NM_203446.3(SYNJ1):c.126A>T (p.Ser42=) | 8867 | SYNJ1 | Likely benign | rs1286622528 | RCV000919920|RCV001471072; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074356 | 34074356 | T | A | 21:g.34074356T>A | - | | |
NM_203446.3(SYNJ1):c.126A>G (p.Ser42=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002177983; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074356 | 34074356 | T | C | 34074356 | - | | |
NM_203446.3(SYNJ1):c.125-6_125-5del | 8867 | SYNJ1 | Benign | -1 | RCV001512107; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074362 | 34074363 | CAA | C | 34074361 | - | | |
NM_203446.3(SYNJ1):c.125-13del | 8867 | SYNJ1 | Likely benign | -1 | RCV002109223; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34074370 | 34074370 | AG | A | 34074369 | - | | |
NM_203446.3(SYNJ1):c.125-17A>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002076922; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34074374 | 34074374 | T | C | 34074374 | - | | |
NM_203446.3(SYNJ1):c.124+20C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002094033; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099063 | 34099063 | G | A | 34099063 | - | | |
NM_203446.3(SYNJ1):c.124+3A>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001877907; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099080 | 34099080 | T | C | 34099080 | - | | |
NM_203446.3(SYNJ1):c.121C>T (p.Leu41Phe) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001372622; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099086 | 34099086 | G | A | 34099086 | - | | |
NM_203446.3(SYNJ1):c.99C>G (p.Phe33Leu) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001904507; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099108 | 34099108 | G | C | 34099108 | - | | |
NM_203446.3(SYNJ1):c.96G>A (p.Met32Ile) | 8867 | SYNJ1 | Uncertain significance | rs770096593 | RCV001338151; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099111 | 34099111 | C | T | 34099111 | - | | |
NM_203446.3(SYNJ1):c.93C>G (p.Leu31=) | 8867 | SYNJ1 | Likely benign | rs201322530 | RCV000655780; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099114 | 34099114 | G | C | NC_000021.8:g.34099114G>C | ClinGen:CA10004216 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.83A>C (p.Glu28Ala) | 8867 | SYNJ1 | Uncertain significance | rs199750187 | RCV001067909; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099124 | 34099124 | T | G | 21:g.34099124T>G | - | | |
NM_203446.3(SYNJ1):c.63A>G (p.Ile21Met) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002007041; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099144 | 34099144 | T | C | 34099144 | - | | |
NM_203446.3(SYNJ1):c.53T>A (p.Phe18Tyr) | 8867 | SYNJ1 | Uncertain significance | rs2043478146 | RCV001214172; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099154 | 34099154 | A | T | 21:g.34099154A>T | - | | |
NM_203446.3(SYNJ1):c.46C>T (p.Pro16Ser) | 8867 | SYNJ1 | Uncertain significance | rs1487423508 | RCV001295254; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099161 | 34099161 | G | A | 34099161 | - | | |
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser) | 8867 | SYNJ1 | Benign/Likely benign | rs61755328 | RCV000513799|RCV001086261; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099164 | 34099164 | G | A | 21:g.34099164G>A | ClinGen:CA10004225 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.41A>G (p.Asp14Gly) | 8867 | SYNJ1 | Uncertain significance | rs565807712 | RCV000691330; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099166 | 34099166 | T | C | NC_000021.8:g.34099166T>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.38T>C (p.Leu13Ser) | 8867 | SYNJ1 | Conflicting interpretations of pathogenicity | -1 | RCV001448730|RCV001751768; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34099169 | 34099169 | A | G | 34099169 | - | | |
NM_203446.3(SYNJ1):c.35A>G (p.Lys12Arg) | 8867 | SYNJ1 | Uncertain significance | rs2043479501 | RCV001232604; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099172 | 34099172 | T | C | 21:g.34099172T>C | - | | |
NM_203446.3(SYNJ1):c.33C>G (p.His11Gln) | 8867 | SYNJ1 | Uncertain significance | rs750372776 | RCV001210340; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099174 | 34099174 | G | C | 21:g.34099174G>C | - | | |
NM_203446.3(SYNJ1):c.29A>G (p.Tyr10Cys) | 8867 | SYNJ1 | Uncertain significance | rs967674859 | RCV001051813; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099178 | 34099178 | T | C | 21:g.34099178T>C | - | | |
NM_203446.3(SYNJ1):c.25A>G (p.Ile9Val) | 8867 | SYNJ1 | Uncertain significance | rs757895747 | RCV000693334; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099182 | 34099182 | T | C | 21:g.34099182T>C | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.24G>T (p.Arg8=) | 8867 | SYNJ1 | Likely benign | -1 | RCV002201151; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099183 | 34099183 | C | A | 34099183 | - | | |
NM_203446.3(SYNJ1):c.20T>A (p.Phe7Tyr) | 8867 | SYNJ1 | Uncertain significance | rs748690832 | RCV000691317|RCV001093461; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34099187 | 34099187 | A | T | NC_000021.8:g.34099187A>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=) | 8867 | SYNJ1 | Benign/Likely benign | rs61750221 | RCV000713724|RCV001086325; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099201 | 34099201 | C | T | NC_000021.8:g.34099201C>T | ClinGen:CA10004232 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.4G>A (p.Ala2Thr) | 8867 | SYNJ1 | Uncertain significance | rs2043481026 | RCV001312720; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099203 | 34099203 | C | T | 34099203 | - | | |
NM_203446.3(SYNJ1):c.-7_-5del | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001920045; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099211 | 34099213 | CCTT | C | 34099210 | - | | |
NM_203446.3(SYNJ1):c.-12G>T | 8867 | SYNJ1 | Pathogenic | -1 | RCV001953846; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099218 | 34099218 | C | A | 34099218 | - | | |
NM_203446.3(SYNJ1):c.-19T>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002178932; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34099225 | 34099225 | A | T | 34099225 | - | | |
NM_203446.3(SYNJ1):c.-22-4G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV001441880; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099232 | 34099232 | C | T | 34099232 | - | | |
NM_203446.3(SYNJ1):c.-22-10G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV001460063; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34099238 | 34099238 | C | T | 34099238 | - | | |
NC_000021.9:g.(?_32727926)_(32728060_?)del | 8867 | SYNJ1 | Pathogenic | -1 | RCV001033697; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100237 | 34100371 | na | na | -1 | - | | |
NM_203446.3(SYNJ1):c.-23+20G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002180097; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100237 | 34100237 | C | T | 34100237 | - | | |
NM_203446.3(SYNJ1):c.-23+19G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002166156; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100238 | 34100238 | C | T | 34100238 | - | | |
NM_203446.3(SYNJ1):c.-23+16G>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002149520; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100241 | 34100241 | C | G | 34100241 | - | | |
NM_203446.3(SYNJ1):c.-23+15G>A | 8867 | SYNJ1 | Benign | -1 | RCV002132501; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100242 | 34100242 | C | T | 34100242 | - | | |
NM_203446.3(SYNJ1):c.-23+11C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV002191846; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100246 | 34100246 | G | A | 34100246 | - | | |
NM_203446.3(SYNJ1):c.-23+3G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001369051; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100254 | 34100254 | C | T | 34100254 | - | | |
NM_203446.3(SYNJ1):c.-23G>A | 8867 | SYNJ1 | Uncertain significance | rs1195858283 | RCV001324406; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100257 | 34100257 | C | T | 34100257 | - | | |
NM_203446.3(SYNJ1):c.-23G>C | 8867 | SYNJ1 | Uncertain significance | rs1195858283 | RCV001340744; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100257 | 34100257 | C | G | 34100257 | - | | |
NM_203446.3(SYNJ1):c.-25G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV001435562; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100259 | 34100259 | C | T | 34100259 | - | | |
NM_203446.3(SYNJ1):c.-29G>A | 8867 | SYNJ1 | Uncertain significance | rs2043550944 | RCV001223324; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100263 | 34100263 | C | T | 21:g.34100263C>T | - | | |
NM_203446.3(SYNJ1):c.-30A>G | 8867 | SYNJ1 | Uncertain significance | rs2043551030 | RCV001319170; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100264 | 34100264 | T | C | 34100264 | - | | |
NM_203446.3(SYNJ1):c.-31G>C | 8867 | SYNJ1 | Likely benign | rs751083536 | RCV000944985; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100265 | 34100265 | C | G | 21:g.34100265C>G | - | | |
NM_203446.3(SYNJ1):c.-34C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001431832; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100268 | 34100268 | G | A | 34100268 | - | | |
NM_203446.3(SYNJ1):c.-37G>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002115446; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100271 | 34100271 | C | T | 34100271 | - | | |
NM_203446.3(SYNJ1):c.-42A>G | 8867 | SYNJ1 | Uncertain significance | rs988950141 | RCV000655743; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100276 | 34100276 | T | C | NC_000021.8:g.34100276T>C | ClinGen:CA319437508 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.-43G>C | 8867 | SYNJ1 | Uncertain significance | rs2043552321 | RCV001313711; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100277 | 34100277 | C | G | 34100277 | - | | |
NM_203446.3(SYNJ1):c.-47G>C | 8867 | SYNJ1 | Uncertain significance | rs1018405878 | RCV001038796; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100281 | 34100281 | C | G | 21:g.34100281C>G | - | | |
NM_203446.3(SYNJ1):c.-49A>G | 8867 | SYNJ1 | Likely benign | rs780877494 | RCV000944167|RCV001493136; | N | MedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100283 | 34100283 | T | C | 21:g.34100283T>C | - | | |
NM_203446.3(SYNJ1):c.-51A>C | 8867 | SYNJ1 | Likely benign | -1 | RCV002165108; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100285 | 34100285 | T | G | 34100285 | - | | |
NM_203446.3(SYNJ1):c.-64_-53dup | 8867 | SYNJ1 | Uncertain significance | rs1427487040 | RCV001213193; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100286 | 34100287 | C | CCCGCAGCCGCCG | 21:g.34100286_34100287insCCGCAGCCGCCG | - | | |
NM_203446.3(SYNJ1):c.-56_-55delinsAT | 8867 | SYNJ1 | Uncertain significance | rs2043553723 | RCV001315357; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100289 | 34100290 | GC | AT | 34100289 | - | | |
NM_203446.3(SYNJ1):c.-55C>G | 8867 | SYNJ1 | Uncertain significance | -1 | RCV002040962; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100289 | 34100289 | G | C | 34100289 | - | | |
NM_203446.3(SYNJ1):c.-67_-56del | 8867 | SYNJ1 | Uncertain significance | rs1035093736 | RCV000655768; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100290 | 34100301 | GCAGCCGCCGCCA | G | 21:g.34100290_34100301del | ClinGen:CA319437559 | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_203446.3(SYNJ1):c.-56G>T | 8867 | SYNJ1 | Uncertain significance | rs1486511197 | RCV001235589; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100290 | 34100290 | C | A | 21:g.34100290C>A | - | | |
NM_203446.3(SYNJ1):c.-57T>G | 8867 | SYNJ1 | Uncertain significance | rs921606190 | RCV001294298|RCV001333170; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100291 | 34100291 | A | C | 34100291 | - | | |
NM_203446.3(SYNJ1):c.-59G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001882859|RCV001766883; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202 | 21 | 34100293 | 34100293 | C | T | 34100293 | - | | |
NM_203446.3(SYNJ1):c.-60G>T | 8867 | SYNJ1 | Uncertain significance | rs535611172 | RCV001215745; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100294 | 34100294 | C | A | 21:g.34100294C>A | - | | |
NM_203446.3(SYNJ1):c.-61C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001398103; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100295 | 34100295 | G | A | 34100295 | - | | |
NM_203446.3(SYNJ1):c.-61C>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002120189; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100295 | 34100295 | G | T | 34100295 | - | | |
NM_203446.3(SYNJ1):c.-62G>A | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001905241; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100296 | 34100296 | C | T | 34100296 | - | | |
NM_203446.3(SYNJ1):c.-63G>A | 8867 | SYNJ1 | Uncertain significance | rs779276328 | RCV001226518; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100297 | 34100297 | C | T | 21:g.34100297C>T | - | | |
NM_203446.3(SYNJ1):c.-64C>T | 8867 | SYNJ1 | Likely benign | -1 | RCV001470612; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100298 | 34100298 | G | A | 34100298 | - | | |
NM_203446.3(SYNJ1):c.-64C>A | 8867 | SYNJ1 | Likely benign | -1 | RCV002140138; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100298 | 34100298 | G | T | 34100298 | - | | |
NM_203446.3(SYNJ1):c.-64C>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002085012; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100298 | 34100298 | G | C | 34100298 | - | | |
NM_203446.3(SYNJ1):c.-68G>A | 8867 | SYNJ1 | Uncertain significance | rs746182035 | RCV001036356; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100302 | 34100302 | C | T | 21:g.34100302C>T | - | | |
NM_203446.3(SYNJ1):c.-73C>G | 8867 | SYNJ1 | Likely benign | -1 | RCV002139149; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100307 | 34100307 | G | C | 34100307 | - | | |
NM_203446.3(SYNJ1):c.-75G>A | 8867 | SYNJ1 | Uncertain significance | rs2043555401 | RCV001231723; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100309 | 34100309 | C | T | 21:g.34100309C>T | - | | |
NM_203446.3(SYNJ1):c.-78C>T | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001966408; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100312 | 34100312 | G | A | 34100312 | - | | |
NM_203446.3(SYNJ1):c.-81G>T | 8867 | SYNJ1 | Uncertain significance | rs907760868 | RCV001057464; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100315 | 34100315 | C | A | 21:g.34100315C>A | - | | |
NM_203446.3(SYNJ1):c.-83A>G | 8867 | SYNJ1 | Uncertain significance | rs775805673 | RCV001345727; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100317 | 34100317 | T | C | 34100317 | - | | |
NM_203446.3(SYNJ1):c.-86G>A | 8867 | SYNJ1 | Uncertain significance | rs768854034 | RCV000800995; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100320 | 34100320 | C | T | 21:g.34100320C>T | - | | |
NM_203446.3(SYNJ1):c.-89G>T | 8867 | SYNJ1 | Uncertain significance | rs1339841336 | RCV001224480; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100323 | 34100323 | C | A | 21:g.34100323C>A | - | | |
NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter) | 8867 | SYNJ1 | Pathogenic | rs1569147057 | RCV000697507; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100328 | 34100328 | C | T | 21:g.34100328C>T | - | C4479313 617389 Epileptic encephalopathy, early infantile, 53; | |
NM_003895.3(SYNJ1):c.12_13dup (p.Trp5fs) | 8867 | SYNJ1 | Pathogenic | -1 | RCV001381958; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100338 | 34100339 | C | CAT | 34100338 | - | | |
NM_003895.3(SYNJ1):c.13T>C (p.Trp5Arg) | 8867 | SYNJ1 | Uncertain significance | rs1255271636 | RCV001308342; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100339 | 34100339 | A | G | 34100339 | - | | |
NM_003895.3(SYNJ1):c.12A>T (p.Arg4Ser) | 8867 | SYNJ1 | Uncertain significance | -1 | RCV001936148; | N | MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389 | 21 | 34100340 | 34100340 | T | A | 34100340 | - | | |
NM_003895.3(SYNJ1):c.9G>A (p.Lys3=) | 8867 | SYNJ1 | Likely benign | -1 | RCV001469293; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100343 | 34100343 | C | T | 34100343 | - | | |
NM_003895.3(SYNJ1):c.7A>C (p.Lys3Gln) | 8867 | SYNJ1 | Uncertain significance | rs1037328706 | RCV000807790; | N | MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411 | 21 | 34100345 | 34100345 | T | G | 21:g.34100345T>G | - | | |