| NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655973]|not provided [RCV000792412] |
Chr1:43431792 [GRCh38]
Chr1:43897463 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655974]|Developmental and epileptic encephalopathy, 18 [RCV003457710]|Inborn genetic diseases [RCV002314859]|not provided [RCV001212620] |
Chr1:43432589 [GRCh38]
Chr1:43898260 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.8030C>G (p.Ala2677Gly) |
single nucleotide variant |
not provided [RCV001302550] |
Chr1:43442497 [GRCh38]
Chr1:43908168 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2129G>A (p.Gly710Glu) |
single nucleotide variant |
not provided [RCV001302663] |
Chr1:43423190 [GRCh38]
Chr1:43888861 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000057518] |
Chr1:43403222 [GRCh38]
Chr1:43868893 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.2092C>T (p.Gln698Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000057519] |
Chr1:43423153 [GRCh38]
Chr1:43888824 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000057520] |
Chr1:43420983 [GRCh38]
Chr1:43886654 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4370TCT[1] (p.Phe1458del) |
microsatellite |
not provided [RCV000083300] |
Chr1:43430070..43430072 [GRCh38]
Chr1:43895741..43895743 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 |
copy number loss |
See cases [RCV000050706] |
Chr1:40693289..44514104 [GRCh38]
Chr1:41158961..44979776 [GRCh37]
Chr1:40931548..44752363 [NCBI36]
Chr1:1p34.2-34.1 |
pathogenic |
| GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] |
Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33 |
pathogenic |
| GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 |
copy number gain |
See cases [RCV000051803] |
Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1 |
pathogenic |
| GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 |
copy number loss |
See cases [RCV000053837] |
Chr1:40462415..44668040 [GRCh38]
Chr1:40928087..45133712 [GRCh37]
Chr1:40700674..44906299 [NCBI36]
Chr1:1p34.2-34.1 |
pathogenic |
| NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002313745]|SZT2-related condition [RCV003905033]|not provided [RCV000488231] |
Chr1:43443673 [GRCh38]
Chr1:43909344 [GRCh37]
Chr1:43681931 [NCBI36]
Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_015284.3(SZT2):c.459C>T (p.Ile153=) |
single nucleotide variant |
Malignant melanoma [RCV000064784] |
Chr1:43404511 [GRCh38]
Chr1:43870182 [GRCh37]
Chr1:43642769 [NCBI36]
Chr1:1p34.2 |
not provided |
| NM_015284.3(SZT2):c.8525C>G (p.Ser2842Trp) |
single nucleotide variant |
Malignant melanoma [RCV000064785] |
Chr1:43443667 [GRCh38]
Chr1:43909338 [GRCh37]
Chr1:43681925 [NCBI36]
Chr1:1p34.2 |
not provided |
| NM_001365999.1(SZT2):c.8700C>T (p.Pro2900=) |
single nucleotide variant |
not provided [RCV002899028] |
Chr1:43443671 [GRCh38]
Chr1:43909342 [GRCh37]
Chr1:43681929 [NCBI36]
Chr1:1p34.2 |
likely benign|not provided |
| NM_015284.3(SZT2):c.8530C>T (p.Pro2844Ser) |
single nucleotide variant |
Malignant melanoma [RCV000064787] |
Chr1:43443672 [GRCh38]
Chr1:43909343 [GRCh37]
Chr1:43681930 [NCBI36]
Chr1:1p34.2 |
not provided |
| NM_001365999.1(SZT2):c.4396C>T (p.Arg1466Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457670]|not provided [RCV000363038] |
Chr1:43430098 [GRCh38]
Chr1:43895769 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9830C>G (p.Thr3277Ser) |
single nucleotide variant |
not provided [RCV001302556] |
Chr1:43448345 [GRCh38]
Chr1:43914016 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9452A>G (p.Tyr3151Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458020]|SZT2-related condition [RCV003416247]|not provided [RCV001348149] |
Chr1:43447860 [GRCh38]
Chr1:43913531 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8333C>G (p.Ser2778Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001292589] |
Chr1:43443000 [GRCh38]
Chr1:43908671 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9887G>A (p.Gly3296Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457991]|not provided [RCV001302662] |
Chr1:43448402 [GRCh38]
Chr1:43914073 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3668dup (p.Ala1224fs) |
duplication |
Developmental and epileptic encephalopathy, 18 [RCV001292586] |
Chr1:43427598..43427599 [GRCh38]
Chr1:43893269..43893270 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001190880.3(HYI):c.302G>A (p.Gly101Asp) |
single nucleotide variant |
not provided [RCV000514979] |
Chr1:43453395 [GRCh38]
Chr1:43919066 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10156-3_10156-2del |
microsatellite |
not provided [RCV001302665] |
Chr1:43450332..43450333 [GRCh38]
Chr1:43916003..43916004 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.7276G>C (p.Ala2426Pro) |
single nucleotide variant |
not provided [RCV001348357] |
Chr1:43440518 [GRCh38]
Chr1:43906189 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8603C>G (p.Thr2868Ser) |
single nucleotide variant |
not provided [RCV001348520] |
Chr1:43443455 [GRCh38]
Chr1:43909126 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2645+116G>C |
single nucleotide variant |
not provided [RCV001572437] |
Chr1:43425323 [GRCh38]
Chr1:43890994 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2972T>C (p.Phe991Ser) |
single nucleotide variant |
not provided [RCV001348756] |
Chr1:43426080 [GRCh38]
Chr1:43891751 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5114T>C (p.Met1705Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458022]|not provided [RCV001348772] |
Chr1:43431741 [GRCh38]
Chr1:43897412 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5039C>T (p.Ser1680Phe) |
single nucleotide variant |
not provided [RCV001294463] |
Chr1:43431474 [GRCh38]
Chr1:43897145 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002336548]|not provided [RCV000767160]|not specified [RCV000203154] |
Chr1:43432342 [GRCh38]
Chr1:43898013 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.4647C>T (p.Gly1549=) |
single nucleotide variant |
not provided [RCV000981746]|not specified [RCV000192319] |
Chr1:43430662 [GRCh38]
Chr1:43896333 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002317715]|SZT2-related condition [RCV003947616]|not provided [RCV000858783]|not specified [RCV000192430] |
Chr1:43437684 [GRCh38]
Chr1:43903355 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.8916+8G>A |
single nucleotide variant |
not provided [RCV000863654]|not specified [RCV000193449] |
Chr1:43445992 [GRCh38]
Chr1:43911663 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003741157]|Inborn genetic diseases [RCV002317714]|not provided [RCV000867998]|not specified [RCV000194293] |
Chr1:43420759 [GRCh38]
Chr1:43886430 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345696]|SZT2-related condition [RCV003967505]|not provided [RCV000862466]|not specified [RCV000194392] |
Chr1:43433158 [GRCh38]
Chr1:43898829 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002478675]|not provided [RCV001853113]|not specified [RCV000193733] |
Chr1:43432313 [GRCh38]
Chr1:43897984 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.1335A>T (p.Ala445=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457754]|Inborn genetic diseases [RCV002316103]|not provided [RCV000861943] |
Chr1:43420822 [GRCh38]
Chr1:43886493 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10288C>T (p.Arg3430Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457747]|Inborn genetic diseases [RCV002312400]|not provided [RCV001050900] |
Chr1:43450469 [GRCh38]
Chr1:43916140 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_001365999.1(SZT2):c.9970-7C>G |
single nucleotide variant |
not provided [RCV000228267] |
Chr1:43448605 [GRCh38]
Chr1:43914276 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6888C>T (p.Cys2296=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457658]|Inborn genetic diseases [RCV002311358]|not provided [RCV000713754]|not specified [RCV000231248] |
Chr1:43439615 [GRCh38]
Chr1:43905286 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002503915]|Inborn genetic diseases [RCV002311356]|not provided [RCV000713740]|not specified [RCV000229211] |
Chr1:43425193 [GRCh38]
Chr1:43890864 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457659]|Inborn genetic diseases [RCV002317768]|not provided [RCV000231555]|not specified [RCV001820752] |
Chr1:43442603 [GRCh38]
Chr1:43908274 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001196745]|Inborn genetic diseases [RCV002311357]|SZT2-related condition [RCV003919973]|not provided [RCV000424295]|not specified [RCV001706268] |
Chr1:43430546 [GRCh38]
Chr1:43896217 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.2356C>T (p.Leu786=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457655]|Inborn genetic diseases [RCV002444916]|not provided [RCV000232662] |
Chr1:43424317 [GRCh38]
Chr1:43889988 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.3469C>T (p.Pro1157Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457657]|Inborn genetic diseases [RCV002313945]|not provided [RCV000233060] |
Chr1:43427316 [GRCh38]
Chr1:43892987 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.6290+3A>T |
single nucleotide variant |
not provided [RCV001373977] |
Chr1:43437511 [GRCh38]
Chr1:43903182 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7275T>C (p.Pro2425=) |
single nucleotide variant |
not provided [RCV000234045] |
Chr1:43440517 [GRCh38]
Chr1:43906188 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4481-5A>G |
single nucleotide variant |
not provided [RCV000228020] |
Chr1:43430491 [GRCh38]
Chr1:43896162 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8201G>A (p.Arg2734Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457660]|not provided [RCV001317977] |
Chr1:43442868 [GRCh38]
Chr1:43908539 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457654]|Inborn genetic diseases [RCV002311331]|SZT2-related condition [RCV003937875]|not provided [RCV000224645] |
Chr1:43441554 [GRCh38]
Chr1:43907225 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457656]|Inborn genetic diseases [RCV002311355]|not provided [RCV001082813]|not specified [RCV000227489] |
Chr1:43425140 [GRCh38]
Chr1:43890811 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1708G>A (p.Ala570Thr) |
single nucleotide variant |
not provided [RCV001368110] |
Chr1:43422164 [GRCh38]
Chr1:43887835 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8782G>A (p.Gly2928Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000623143] |
Chr1:43443753 [GRCh38]
Chr1:43909424 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1 |
copy number loss |
See cases [RCV000446029] |
Chr1:42914303..45001279 [GRCh37]
Chr1:1p34.2-34.1 |
pathogenic |
| NM_001365999.1(SZT2):c.7211-13C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003445819]|not provided [RCV001582869]|not specified [RCV000248448] |
Chr1:43440440 [GRCh38]
Chr1:43906111 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.7356A>G (p.Glu2452=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457667]|Inborn genetic diseases [RCV002311393]|not provided [RCV000713756]|not specified [RCV000253624] |
Chr1:43441225 [GRCh38]
Chr1:43906896 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.5198G>A (p.Arg1733His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457663]|Inborn genetic diseases [RCV002311389]|not provided [RCV001080135]|not specified [RCV000244467] |
Chr1:43431825 [GRCh38]
Chr1:43897496 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.546C>T (p.Phe182=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003490258]|not provided [RCV001493848] |
Chr1:43415129 [GRCh38]
Chr1:43880800 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5385T>G (p.Ser1795=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457664]|Inborn genetic diseases [RCV002311390]|not provided [RCV001080541]|not specified [RCV000249638] |
Chr1:43432382 [GRCh38]
Chr1:43898053 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2550+5G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003445817]|Inborn genetic diseases [RCV002311388]|not provided [RCV001080134]|not specified [RCV000252157] |
Chr1:43424867 [GRCh38]
Chr1:43890538 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.8626-3T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003343735]|Inborn genetic diseases [RCV002311394]|not provided [RCV000713761]|not specified [RCV000242391] |
Chr1:43443594 [GRCh38]
Chr1:43909265 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001815264]|Inborn genetic diseases [RCV002311387]|not provided [RCV000713739]|not specified [RCV000247399] |
Chr1:43420823 [GRCh38]
Chr1:43886494 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457668]|Inborn genetic diseases [RCV002317785]|not provided [RCV000858355]|not specified [RCV000245444] |
Chr1:43441264 [GRCh38]
Chr1:43906935 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365999.1(SZT2):c.2929+9G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003445818]|not provided [RCV000713743]|not specified [RCV000252668] |
Chr1:43425958 [GRCh38]
Chr1:43891629 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.5535T>G (p.Ser1845Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457665]|Inborn genetic diseases [RCV002311391]|not provided [RCV000713750]|not specified [RCV000252770] |
Chr1:43432732 [GRCh38]
Chr1:43898403 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.8429G>T (p.Arg2810Leu) |
single nucleotide variant |
not provided [RCV000522091] |
Chr1:43443197 [GRCh38]
Chr1:43908868 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6034+11A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003343733]|not provided [RCV001722330]|not specified [RCV000243204] |
Chr1:43435340 [GRCh38]
Chr1:43901011 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.8499+8A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003445820]|not provided [RCV000861989]|not specified [RCV000250595] |
Chr1:43443275 [GRCh38]
Chr1:43908946 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457666]|Inborn genetic diseases [RCV002311392]|not provided [RCV000858100]|not specified [RCV000253139] |
Chr1:43438733 [GRCh38]
Chr1:43904404 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365999.1(SZT2):c.9360T>C (p.Ser3120=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457669]|not provided [RCV000864562]|not specified [RCV000245984] |
Chr1:43447618 [GRCh38]
Chr1:43913289 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6508+16G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003343734]|not provided [RCV001651208]|not specified [RCV000248361] |
Chr1:43437918 [GRCh38]
Chr1:43903589 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.9441-12C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003445821]|not provided [RCV001675739]|not specified [RCV000250734] |
Chr1:43447837 [GRCh38]
Chr1:43913508 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.8826-2A>G |
single nucleotide variant |
not provided [RCV000309619] |
Chr1:43445892 [GRCh38]
Chr1:43911563 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1497-95C>T |
single nucleotide variant |
not provided [RCV001565862] |
Chr1:43421079 [GRCh38]
Chr1:43886750 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1027C>G (p.Arg343Gly) |
single nucleotide variant |
not provided [RCV001368381] |
Chr1:43419881 [GRCh38]
Chr1:43885552 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7936C>T (p.Arg2646Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001262973]|not provided [RCV000519864] |
Chr1:43442330 [GRCh38]
Chr1:43908001 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2932T>C (p.Leu978=) |
single nucleotide variant |
not provided [RCV000487885] |
Chr1:43426040 [GRCh38]
Chr1:43891711 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.499-183C>T |
single nucleotide variant |
not provided [RCV001546213] |
Chr1:43414899 [GRCh38]
Chr1:43880570 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8711G>A (p.Arg2904His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457724]|Inborn genetic diseases [RCV002448815]|not provided [RCV000585346] |
Chr1:43443682 [GRCh38]
Chr1:43909353 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10030C>T (p.Arg3344Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457725]|not provided [RCV000591866] |
Chr1:43448672 [GRCh38]
Chr1:43914343 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655978]|not provided [RCV002527162] |
Chr1:43443774 [GRCh38]
Chr1:43909445 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.4211G>A (p.Arg1404His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457814]|Inborn genetic diseases [RCV002325570]|not provided [RCV000806276] |
Chr1:43429747 [GRCh38]
Chr1:43895418 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.184A>G (p.Ser62Gly) |
single nucleotide variant |
not provided [RCV000523881] |
Chr1:43403631 [GRCh38]
Chr1:43869302 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5025-2A>G |
single nucleotide variant |
Cryptorchidism [RCV000735286]|Developmental and epileptic encephalopathy, 18 [RCV001249341]|See cases [RCV003156110] |
Chr1:43431458 [GRCh38]
Chr1:43897129 [GRCh37]
Chr1:1p34.2 |
likely pathogenic|not provided |
| NM_001365999.1(SZT2):c.8044G>A (p.Val2682Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457792]|Inborn genetic diseases [RCV002535201]|not provided [RCV000731286] |
Chr1:43442511 [GRCh38]
Chr1:43908182 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8213C>T (p.Pro2738Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457793]|not provided [RCV000731287] |
Chr1:43442880 [GRCh38]
Chr1:43908551 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.74G>A (p.Arg25Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457678]|not provided [RCV000416154] |
Chr1:43403223 [GRCh38]
Chr1:43868894 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) |
deletion |
Cryptorchidism [RCV000735287]|Developmental and epileptic encephalopathy, 18 [RCV001004920]|See cases [RCV003156093]|not provided [RCV000412881] |
Chr1:43437254..43437256 [GRCh38]
Chr1:43902925..43902927 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.2929+15C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000723351] |
Chr1:43425964 [GRCh38]
Chr1:43891635 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9893G>A (p.Arg3298His) |
single nucleotide variant |
Obesity [RCV000449496] |
Chr1:43448408 [GRCh38]
Chr1:43914079 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4618G>A (p.Asp1540Asn) |
single nucleotide variant |
not provided [RCV000442430] |
Chr1:43430633 [GRCh38]
Chr1:43896304 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.616G>A (p.Asp206Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457679]|not provided [RCV000420379] |
Chr1:43415199 [GRCh38]
Chr1:43880870 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1770-11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003445986]|not provided [RCV002524854]|not specified [RCV000436392] |
Chr1:43422469 [GRCh38]
Chr1:43888140 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2550+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003445971]|Inborn genetic diseases [RCV002314160]|not provided [RCV000858611] |
Chr1:43424867 [GRCh38]
Chr1:43890538 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001365999.1(SZT2):c.3267C>T (p.Val1089=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457693]|Inborn genetic diseases [RCV002311797]|SZT2-related condition [RCV003915319]|not provided [RCV000460633] |
Chr1:43426767 [GRCh38]
Chr1:43892438 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.3924A>G (p.Leu1308=) |
single nucleotide variant |
not provided [RCV000460776] |
Chr1:43428244 [GRCh38]
Chr1:43893915 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.368A>G (p.His123Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457688]|Inborn genetic diseases [RCV002349980]|not provided [RCV000460987] |
Chr1:43404420 [GRCh38]
Chr1:43870091 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.588G>A (p.Lys196=) |
single nucleotide variant |
not provided [RCV000461167] |
Chr1:43415171 [GRCh38]
Chr1:43880842 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2138G>T (p.Gly713Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457685]|not provided [RCV001321182] |
Chr1:43423199 [GRCh38]
Chr1:43888870 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4051T>C (p.Trp1351Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457695]|Inborn genetic diseases [RCV002313235]|not provided [RCV000713745] |
Chr1:43428371 [GRCh38]
Chr1:43894042 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.3511G>T (p.Gly1171Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000763917]|not provided [RCV000461838] |
Chr1:43427358 [GRCh38]
Chr1:43893029 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457704]|Inborn genetic diseases [RCV002367619]|not provided [RCV000462518]|not specified [RCV001821381] |
Chr1:43440487 [GRCh38]
Chr1:43906158 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.5075C>T (p.Thr1692Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457701]|Inborn genetic diseases [RCV002318569]|not provided [RCV000462658] |
Chr1:43431510 [GRCh38]
Chr1:43897181 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.8594C>T (p.Pro2865Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457689]|Inborn genetic diseases [RCV003168860]|not provided [RCV001201391]|not specified [RCV000463401] |
Chr1:43443446 [GRCh38]
Chr1:43909117 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2353A>G (p.Ser785Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000763916]|not provided [RCV000463489] |
Chr1:43424314 [GRCh38]
Chr1:43889985 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9970-9C>T |
single nucleotide variant |
not provided [RCV000464156] |
Chr1:43448603 [GRCh38]
Chr1:43914274 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3582T>C (p.Ser1194=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457708]|Inborn genetic diseases [RCV002313240]|not provided [RCV000713744] |
Chr1:43427429 [GRCh38]
Chr1:43893100 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457683]|Inborn genetic diseases [RCV002523407]|not provided [RCV000713741]|not specified [RCV003230505] |
Chr1:43425908 [GRCh38]
Chr1:43891579 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.92G>A (p.Arg31His) |
single nucleotide variant |
not provided [RCV001366470] |
Chr1:43403241 [GRCh38]
Chr1:43868912 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5906G>A (p.Arg1969Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000763921]|not provided [RCV000465626] |
Chr1:43435201 [GRCh38]
Chr1:43900872 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4892C>T (p.Thr1631Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000763920]|Inborn genetic diseases [RCV002339188]|SZT2-related condition [RCV003972760]|not provided [RCV000465656] |
Chr1:43431066 [GRCh38]
Chr1:43896737 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000763922]|SZT2-related condition [RCV003925413]|not provided [RCV000484121] |
Chr1:43446206 [GRCh38]
Chr1:43911877 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.348C>A (p.Ile116=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457698]|Inborn genetic diseases [RCV002311799]|not provided [RCV001082756]|not specified [RCV000466011] |
Chr1:43404400 [GRCh38]
Chr1:43870071 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2930-4G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002436519]|not provided [RCV000466156] |
Chr1:43426034 [GRCh38]
Chr1:43891705 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.2025G>A (p.Pro675=) |
single nucleotide variant |
Inborn genetic diseases [RCV002418490]|not provided [RCV000466965] |
Chr1:43422871 [GRCh38]
Chr1:43888542 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001365999.1(SZT2):c.3804-9G>A |
single nucleotide variant |
not provided [RCV000467456] |
Chr1:43427994 [GRCh38]
Chr1:43893665 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4721G>A (p.Arg1574Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002468579]|Inborn genetic diseases [RCV002318532]|not provided [RCV000467634] |
Chr1:43430736 [GRCh38]
Chr1:43896407 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002506155]|Inborn genetic diseases [RCV002318568]|not provided [RCV000468418] |
Chr1:43431331 [GRCh38]
Chr1:43897002 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457700]|Inborn genetic diseases [RCV002313236]|not provided [RCV000713762] |
Chr1:43445978 [GRCh38]
Chr1:43911649 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.4064A>G (p.His1355Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000763918]|Inborn genetic diseases [RCV002313182]|not provided [RCV000469229] |
Chr1:43428384 [GRCh38]
Chr1:43894055 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457702]|Inborn genetic diseases [RCV002313237]|not provided [RCV000514276] |
Chr1:43441565 [GRCh38]
Chr1:43907236 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.6920C>T (p.Ala2307Val) |
single nucleotide variant |
not provided [RCV000470042] |
Chr1:43439647 [GRCh38]
Chr1:43905318 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5780G>T (p.Arg1927Leu) |
single nucleotide variant |
not provided [RCV000470149] |
Chr1:43433166 [GRCh38]
Chr1:43898837 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7975-10C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446075]|SZT2-related condition [RCV003915320]|not provided [RCV000470255] |
Chr1:43442432 [GRCh38]
Chr1:43908103 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.4342C>T (p.Arg1448Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000763919]|Inborn genetic diseases [RCV002329077]|SZT2-related condition [RCV003942497]|not provided [RCV000470409] |
Chr1:43430044 [GRCh38]
Chr1:43895715 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002496846]|Inborn genetic diseases [RCV002313238]|not provided [RCV000470419] |
Chr1:43440498 [GRCh38]
Chr1:43906169 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.5665G>T (p.Ala1889Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002349981]|SZT2-related condition [RCV003970291]|not provided [RCV000470893] |
Chr1:43433051 [GRCh38]
Chr1:43898722 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002339189]|not provided [RCV000471146] |
Chr1:43432374 [GRCh38]
Chr1:43898045 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.4457A>C (p.Glu1486Ala) |
single nucleotide variant |
not provided [RCV001348274] |
Chr1:43430366 [GRCh38]
Chr1:43896037 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3216T>C (p.Gly1072=) |
single nucleotide variant |
not provided [RCV000471341] |
Chr1:43426716 [GRCh38]
Chr1:43892387 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6117C>T (p.Asp2039=) |
single nucleotide variant |
not provided [RCV000472432] |
Chr1:43437253 [GRCh38]
Chr1:43902924 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2547T>A (p.Ile849=) |
single nucleotide variant |
not provided [RCV000472626] |
Chr1:43424859 [GRCh38]
Chr1:43890530 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457706]|Inborn genetic diseases [RCV002313239]|not provided [RCV000472892] |
Chr1:43429712 [GRCh38]
Chr1:43895383 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001190880.3(HYI):c.505+5G>A |
single nucleotide variant |
not provided [RCV000513965] |
Chr1:43451930 [GRCh38]
Chr1:43917601 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6536G>A (p.Arg2179Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457686]|Inborn genetic diseases [RCV002365664]|not provided [RCV000473860] |
Chr1:43438726 [GRCh38]
Chr1:43904397 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3570C>T (p.Val1190=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457692]|Inborn genetic diseases [RCV002455903]|not provided [RCV000474291] |
Chr1:43427417 [GRCh38]
Chr1:43893088 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.5645A>G (p.Asn1882Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002525620]|not provided [RCV000474476] |
Chr1:43433031 [GRCh38]
Chr1:43898702 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457699]|Inborn genetic diseases [RCV002311800]|SZT2-related condition [RCV003915321]|not provided [RCV000474846] |
Chr1:43442487 [GRCh38]
Chr1:43908158 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.9286+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002374883]|not provided [RCV000485962] |
Chr1:43447173 [GRCh38]
Chr1:43912844 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.4069C>A (p.Pro1357Thr) |
single nucleotide variant |
not provided [RCV000475253] |
Chr1:43428389 [GRCh38]
Chr1:43894060 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5167G>A (p.Ala1723Thr) |
single nucleotide variant |
not provided [RCV000475727] |
Chr1:43431794 [GRCh38]
Chr1:43897465 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7012C>G (p.Arg2338Gly) |
single nucleotide variant |
not provided [RCV001363516] |
Chr1:43439739 [GRCh38]
Chr1:43905410 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2038-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446066]|Inborn genetic diseases [RCV002418423]|not provided [RCV000476380] |
Chr1:43423096 [GRCh38]
Chr1:43888767 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1791C>T (p.His597=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457694]|Inborn genetic diseases [RCV002402367]|not provided [RCV000476401] |
Chr1:43422501 [GRCh38]
Chr1:43888172 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457696]|Inborn genetic diseases [RCV002413308]|not provided [RCV000476462] |
Chr1:43442498 [GRCh38]
Chr1:43908169 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8998-6del |
deletion |
not provided [RCV000476672] |
Chr1:43446334 [GRCh38]
Chr1:43912005 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7512-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446076]|Inborn genetic diseases [RCV002311801]|SZT2-related condition [RCV003915322]|not provided [RCV000477606] |
Chr1:43441501 [GRCh38]
Chr1:43907172 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.1373G>A (p.Arg458Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457709]|not provided [RCV000482376] |
Chr1:43420860 [GRCh38]
Chr1:43886531 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8479C>T (p.Pro2827Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457690]|not provided [RCV001371923] |
Chr1:43443247 [GRCh38]
Chr1:43908918 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4225C>T (p.Pro1409Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457684]|Inborn genetic diseases [RCV002323755]|not provided [RCV001851123] |
Chr1:43429761 [GRCh38]
Chr1:43895432 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457697]|Inborn genetic diseases [RCV002311798]|not provided [RCV000713749] |
Chr1:43432591 [GRCh38]
Chr1:43898262 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.1107A>G (p.Leu369=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457705]|SZT2-related condition [RCV003970364]|not provided [RCV000456643] |
Chr1:43420169 [GRCh38]
Chr1:43885840 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.759G>A (p.Ser253=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457707]|Inborn genetic diseases [RCV002311803]|not provided [RCV000713759] |
Chr1:43416088 [GRCh38]
Chr1:43881759 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.2024C>T (p.Pro675Leu) |
single nucleotide variant |
not provided [RCV000457995] |
Chr1:43422870 [GRCh38]
Chr1:43888541 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3309+9C>T |
single nucleotide variant |
not provided [RCV000458261] |
Chr1:43426818 [GRCh38]
Chr1:43892489 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457703]|Inborn genetic diseases [RCV002311802]|not provided [RCV000458410] |
Chr1:43448238 [GRCh38]
Chr1:43913909 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.7443C>T (p.Thr2481=) |
single nucleotide variant |
not provided [RCV000459074] |
Chr1:43441312 [GRCh38]
Chr1:43906983 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457687]|Inborn genetic diseases [RCV002313181]|Intellectual disability [RCV001252126]|not provided [RCV000459918] |
Chr1:43442844 [GRCh38]
Chr1:43908515 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.4503G>A (p.Val1501=) |
single nucleotide variant |
not provided [RCV001857174]|not specified [RCV000503690] |
Chr1:43430518 [GRCh38]
Chr1:43896189 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.2477G>A (p.Arg826Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457713]|Inborn genetic diseases [RCV002527295]|not provided [RCV000803382]|not specified [RCV000503874] |
Chr1:43424789 [GRCh38]
Chr1:43890460 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4288G>A (p.Ala1430Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000509328]|not provided [RCV001865668] |
Chr1:43429824 [GRCh38]
Chr1:43895495 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.8182G>C (p.Glu2728Gln) |
single nucleotide variant |
not specified [RCV000502134] |
Chr1:43442849 [GRCh38]
Chr1:43908520 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His) |
single nucleotide variant |
Inborn genetic diseases [RCV002341188]|Seizure [RCV001255057]|not provided [RCV000864618]|not specified [RCV000500168] |
Chr1:43430742 [GRCh38]
Chr1:43896413 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV000500500] |
Chr1:43415983..43415984 [GRCh38]
Chr1:43881654..43881655 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001365999.1(SZT2):c.8039G>A (p.Arg2680His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457714]|Inborn genetic diseases [RCV002524305]|not provided [RCV000822279]|not specified [RCV000500684] |
Chr1:43442506 [GRCh38]
Chr1:43908177 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003133279]|not provided [RCV000494105] |
Chr1:43424324 [GRCh38]
Chr1:43889995 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000664408]|not provided [RCV000493018] |
Chr1:43439025 [GRCh38]
Chr1:43904696 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000576903]|not provided [RCV000865640] |
Chr1:43423147 [GRCh38]
Chr1:43888818 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.8834G>A (p.Arg2945Gln) |
single nucleotide variant |
not provided [RCV001226026] |
Chr1:43445902 [GRCh38]
Chr1:43911573 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2353A>T (p.Ser785Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003290415] |
Chr1:43424314 [GRCh38]
Chr1:43889985 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001292590]|not specified [RCV000590899] |
Chr1:43441689 [GRCh38]
Chr1:43907360 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.5516G>A (p.Arg1839His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457729]|Inborn genetic diseases [RCV000623036]|not provided [RCV000797578] |
Chr1:43432590 [GRCh38]
Chr1:43898261 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5905-13C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446115]|not provided [RCV000514463] |
Chr1:43435187 [GRCh38]
Chr1:43900858 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001190880.3(HYI):c.804T>G (p.Asp268Glu) |
single nucleotide variant |
not provided [RCV000515007] |
Chr1:43451268 [GRCh38]
Chr1:43916939 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8459C>T (p.Thr2820Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457730]|Inborn genetic diseases [RCV000624109]|not provided [RCV001217388] |
Chr1:43443227 [GRCh38]
Chr1:43908898 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655969] |
Chr1:43403254 [GRCh38]
Chr1:43868925 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655971]|not provided [RCV002524109] |
Chr1:43428297 [GRCh38]
Chr1:43893968 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001190880.3(HYI):c.353G>A (p.Arg118Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003299083] |
Chr1:43452278 [GRCh38]
Chr1:43917949 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655976] |
Chr1:43439950 [GRCh38]
Chr1:43905621 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4309-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446167]|not provided [RCV000585098] |
Chr1:43430008 [GRCh38]
Chr1:43895679 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655970]|Developmental and epileptic encephalopathy, 18 [RCV001199346]|not provided [RCV000805074] |
Chr1:43425640 [GRCh38]
Chr1:43891311 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655972]|not provided [RCV001217314] |
Chr1:43428455 [GRCh38]
Chr1:43894126 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655975] |
Chr1:43435233 [GRCh38]
Chr1:43900904 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655977]|not provided [RCV001044610] |
Chr1:43442281 [GRCh38]
Chr1:43907952 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655979]|Developmental and epileptic encephalopathy, 18 [RCV003457711]|not provided [RCV001343243] |
Chr1:43446201 [GRCh38]
Chr1:43911872 [GRCh37]
Chr1:1p34.2 |
pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.8151+16G>T |
single nucleotide variant |
not provided [RCV003690684] |
Chr1:43442634 [GRCh38]
Chr1:43908305 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.498G>T (p.Gln166His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV000677214] |
Chr1:43404550 [GRCh38]
Chr1:43870221 [GRCh37]
Chr1:1p34.2 |
likely pathogenic|uncertain significance |
| NM_001365999.1(SZT2):c.8255G>A (p.Arg2752His) |
single nucleotide variant |
Inborn genetic diseases [RCV002317908]|SZT2-related condition [RCV003953219]|not provided [RCV000658509] |
Chr1:43442922 [GRCh38]
Chr1:43908593 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.4187G>A (p.Ser1396Asn) |
single nucleotide variant |
not provided [RCV000713746] |
Chr1:43429723 [GRCh38]
Chr1:43895394 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335728]|Inborn genetic diseases [RCV002312256]|SZT2-related condition [RCV003918152]|not provided [RCV000713748] |
Chr1:43431072 [GRCh38]
Chr1:43896743 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457741]|Inborn genetic diseases [RCV002317943]|not provided [RCV000713753] |
Chr1:43438763 [GRCh38]
Chr1:43904434 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.8216C>T (p.Pro2739Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457743]|not provided [RCV000713760] |
Chr1:43442883 [GRCh38]
Chr1:43908554 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3215-5T>C |
single nucleotide variant |
not provided [RCV000658508] |
Chr1:43426710 [GRCh38]
Chr1:43892381 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457734]|Inborn genetic diseases [RCV002317907]|SZT2-related condition [RCV003953218]|not provided [RCV000658507] |
Chr1:43426063 [GRCh38]
Chr1:43891734 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.9828C>T (p.Asp3276=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457744]|Inborn genetic diseases [RCV002312326]|not provided [RCV000861342] |
Chr1:43448343 [GRCh38]
Chr1:43914014 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7831C>T (p.Leu2611=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457745]|Inborn genetic diseases [RCV002312339]|not provided [RCV000861392] |
Chr1:43442088 [GRCh38]
Chr1:43907759 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.2916G>T (p.Pro972=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457739]|not provided [RCV000713742] |
Chr1:43425936 [GRCh38]
Chr1:43891607 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7513C>T (p.Arg2505Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457742]|Inborn genetic diseases [RCV002317945]|not provided [RCV000713757] |
Chr1:43441505 [GRCh38]
Chr1:43907176 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.675G>A (p.Lys225=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457776]|Inborn genetic diseases [RCV002316900]|not provided [RCV001511788] |
Chr1:43416004 [GRCh38]
Chr1:43881675 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_001365999.1(SZT2):c.6623T>G (p.Val2208Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001808245] |
Chr1:43438813 [GRCh38]
Chr1:43904484 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002499295]|Inborn genetic diseases [RCV002312255]|not provided [RCV000713747] |
Chr1:43430716 [GRCh38]
Chr1:43896387 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.629A>G (p.Gln210Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457740]|not provided [RCV000713752] |
Chr1:43415212 [GRCh38]
Chr1:43880883 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7692_7694del (p.Val2565del) |
deletion |
not provided [RCV000713758] |
Chr1:43441767..43441769 [GRCh38]
Chr1:43907438..43907440 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5551C>T (p.Arg1851Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457762]|Inborn genetic diseases [RCV002314595]|not provided [RCV000815346] |
Chr1:43432748 [GRCh38]
Chr1:43898419 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2646-3T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446391]|Inborn genetic diseases [RCV002316151]|not provided [RCV000807441] |
Chr1:43425471 [GRCh38]
Chr1:43891142 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2824C>T (p.Arg942Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457757]|Inborn genetic diseases [RCV002314386]|not provided [RCV002533009] |
Chr1:43425844 [GRCh38]
Chr1:43891515 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4480+4T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002313460]|not provided [RCV001061401] |
Chr1:43430393 [GRCh38]
Chr1:43896064 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.2034C>T (p.His678=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457746]|Inborn genetic diseases [RCV002312398]|not provided [RCV000865737] |
Chr1:43422880 [GRCh38]
Chr1:43888551 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.137C>T (p.Thr46Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002312484]|not provided [RCV001840730] |
Chr1:43403286 [GRCh38]
Chr1:43868957 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.9931G>T (p.Val3311Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002312748] |
Chr1:43448446 [GRCh38]
Chr1:43914117 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2775G>A (p.Lys925=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457750]|Inborn genetic diseases [RCV002312749]|not provided [RCV001466626] |
Chr1:43425603 [GRCh38]
Chr1:43891274 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9576C>T (p.Phe3192=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335733]|Inborn genetic diseases [RCV002316112]|SZT2-related condition [RCV003907989]|not provided [RCV000863665] |
Chr1:43448091 [GRCh38]
Chr1:43913762 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.7816C>T (p.Arg2606Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457755]|Inborn genetic diseases [RCV002316120]|not provided [RCV000818504] |
Chr1:43442073 [GRCh38]
Chr1:43907744 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4524G>A (p.Glu1508=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457756]|Inborn genetic diseases [RCV002316169]|not provided [RCV000865612] |
Chr1:43430539 [GRCh38]
Chr1:43896210 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4814G>T (p.Gly1605Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457758]|Inborn genetic diseases [RCV002314413]|not provided [RCV001060492] |
Chr1:43430988 [GRCh38]
Chr1:43896659 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2545A>G (p.Ile849Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457760]|Inborn genetic diseases [RCV002314472]|not provided [RCV001225972] |
Chr1:43424857 [GRCh38]
Chr1:43890528 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002317944]|SZT2-related condition [RCV003907980]|not provided [RCV000713755] |
Chr1:43439704 [GRCh38]
Chr1:43905375 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002317942]|not provided [RCV000713751] |
Chr1:43437213 [GRCh38]
Chr1:43902884 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.6541C>T (p.Leu2181=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457759]|Inborn genetic diseases [RCV002314458]|not provided [RCV000862479] |
Chr1:43438731 [GRCh38]
Chr1:43904402 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8930C>T (p.Pro2977Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457763]|Inborn genetic diseases [RCV002313510]|not provided [RCV001325832] |
Chr1:43446192 [GRCh38]
Chr1:43911863 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457753]|Inborn genetic diseases [RCV002316057]|not provided [RCV000862871] |
Chr1:43447550 [GRCh38]
Chr1:43913221 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.1385C>T (p.Thr462Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002313672] |
Chr1:43420872 [GRCh38]
Chr1:43886543 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 1 [RCV000714621]|Developmental and epileptic encephalopathy, 18 [RCV000714622]|Inborn genetic diseases [RCV002316013]|not provided [RCV001222205] |
Chr1:43430045 [GRCh38]
Chr1:43895716 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9880C>T (p.Arg3294Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002493274]|Inborn genetic diseases [RCV002316182]|not provided [RCV000797577] |
Chr1:43448395 [GRCh38]
Chr1:43914066 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7641C>T (p.His2547=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457761]|Inborn genetic diseases [RCV002314528]|SZT2-related condition [RCV003980341]|not provided [RCV000863536] |
Chr1:43441717 [GRCh38]
Chr1:43907388 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3690G>A (p.Ala1230=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457765]|Inborn genetic diseases [RCV002313654]|not provided [RCV002534562] |
Chr1:43427621 [GRCh38]
Chr1:43893292 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2787C>G (p.Asp929Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003141721]|Inborn genetic diseases [RCV002318037]|not provided [RCV000805174] |
Chr1:43425615 [GRCh38]
Chr1:43891286 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.297G>A (p.Glu99=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313552]|not provided [RCV003727810] |
Chr1:43403744 [GRCh38]
Chr1:43869415 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9072+4T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002315282] |
Chr1:43446420 [GRCh38]
Chr1:43912091 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9732G>A (p.Pro3244=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457769]|Inborn genetic diseases [RCV002315433]|not provided [RCV000866040] |
Chr1:43448247 [GRCh38]
Chr1:43913918 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9782G>A (p.Arg3261Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457771]|Inborn genetic diseases [RCV002317946]|SZT2-related condition [RCV003953275]|not provided [RCV000862207] |
Chr1:43448297 [GRCh38]
Chr1:43913968 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.2228A>G (p.His743Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457773]|Inborn genetic diseases [RCV002318096]|not provided [RCV001059908]|not specified [RCV003396296] |
Chr1:43423289 [GRCh38]
Chr1:43888960 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.847C>T (p.Arg283Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457774]|Inborn genetic diseases [RCV002318123]|not provided [RCV001351964] |
Chr1:43416609 [GRCh38]
Chr1:43882280 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1060G>T (p.Gly354Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002318625] |
Chr1:43419914 [GRCh38]
Chr1:43885585 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4765A>C (p.Thr1589Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002318636] |
Chr1:43430780 [GRCh38]
Chr1:43896451 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.670C>G (p.Arg224Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457766]|Inborn genetic diseases [RCV002313687]|not provided [RCV001350867] |
Chr1:43415999 [GRCh38]
Chr1:43881670 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3916C>T (p.Arg1306Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330840]|Inborn genetic diseases [RCV002313694]|not provided [RCV000805824] |
Chr1:43428115 [GRCh38]
Chr1:43893786 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9460T>C (p.Ser3154Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457767]|Inborn genetic diseases [RCV002313700]|not provided [RCV001862045] |
Chr1:43447868 [GRCh38]
Chr1:43913539 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7069T>C (p.Leu2357=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457768]|Inborn genetic diseases [RCV002315343]|not provided [RCV000864657] |
Chr1:43439907 [GRCh38]
Chr1:43905578 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5552G>A (p.Arg1851Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457764]|Inborn genetic diseases [RCV002313516]|not provided [RCV001862038] |
Chr1:43432749 [GRCh38]
Chr1:43898420 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8947C>T (p.Leu2983=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457770]|Inborn genetic diseases [RCV002315460]|not provided [RCV001418277] |
Chr1:43446209 [GRCh38]
Chr1:43911880 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6008G>A (p.Arg2003His) |
single nucleotide variant |
Inborn genetic diseases [RCV002315470] |
Chr1:43435303 [GRCh38]
Chr1:43900974 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2930-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002318038]|not provided [RCV001404181] |
Chr1:43426033 [GRCh38]
Chr1:43891704 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.3251C>T (p.Pro1084Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457772]|Inborn genetic diseases [RCV002318049]|SZT2-related condition [RCV003928206]|not provided [RCV000862655] |
Chr1:43426751 [GRCh38]
Chr1:43892422 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9049A>G (p.Met3017Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003141722]|Inborn genetic diseases [RCV002318058]|not provided [RCV001068001] |
Chr1:43446393 [GRCh38]
Chr1:43912064 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330841]|Inborn genetic diseases [RCV002316781]|not provided [RCV001217761] |
Chr1:43431320 [GRCh38]
Chr1:43896991 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457782]|Inborn genetic diseases [RCV002317608]|not provided [RCV000860880] |
Chr1:43439987 [GRCh38]
Chr1:43905658 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.9665C>T (p.Pro3222Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457783]|Inborn genetic diseases [RCV002317630]|not provided [RCV001221709] |
Chr1:43448180 [GRCh38]
Chr1:43913851 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457788]|Inborn genetic diseases [RCV002318279]|not provided [RCV000864584] |
Chr1:43448398 [GRCh38]
Chr1:43914069 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.4525C>T (p.Leu1509=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457777]|Inborn genetic diseases [RCV002317513]|not provided [RCV001459953] |
Chr1:43430540 [GRCh38]
Chr1:43896211 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7896C>T (p.Phe2632=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457780]|Inborn genetic diseases [RCV002317585]|not provided [RCV002060942] |
Chr1:43442290 [GRCh38]
Chr1:43907961 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001292588]|Inborn genetic diseases [RCV002317600]|not provided [RCV000981751] |
Chr1:43441343 [GRCh38]
Chr1:43907014 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.2282G>A (p.Arg761Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002318182] |
Chr1:43424243 [GRCh38]
Chr1:43889914 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2014A>T (p.Thr672Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457789]|Inborn genetic diseases [RCV002318298]|not provided [RCV000820890] |
Chr1:43422860 [GRCh38]
Chr1:43888531 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5072A>C (p.Glu1691Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002318087]|not provided [RCV000808266] |
Chr1:43431507 [GRCh38]
Chr1:43897178 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.3297T>C (p.Ala1099=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318097] |
Chr1:43426797 [GRCh38]
Chr1:43892468 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6038A>G (p.Tyr2013Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002317968] |
Chr1:43437174 [GRCh38]
Chr1:43902845 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7224C>T (p.Asn2408=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457775]|Inborn genetic diseases [RCV002318773]|not provided [RCV000862734] |
Chr1:43440466 [GRCh38]
Chr1:43906137 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4049C>T (p.Thr1350Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002316698] |
Chr1:43428369 [GRCh38]
Chr1:43894040 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.-4T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002317555] |
Chr1:43389965 [GRCh38]
Chr1:43855636 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2747G>A (p.Arg916Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457781]|Inborn genetic diseases [RCV002317586]|not provided [RCV002533053] |
Chr1:43425575 [GRCh38]
Chr1:43891246 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8137G>A (p.Val2713Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003141724]|Inborn genetic diseases [RCV002317599]|not provided [RCV000810974] |
Chr1:43442604 [GRCh38]
Chr1:43908275 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2499C>T (p.Phe833=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457785]|Inborn genetic diseases [RCV002318133]|not provided [RCV000868347] |
Chr1:43424811 [GRCh38]
Chr1:43890482 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5284C>T (p.Arg1762Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457787]|Inborn genetic diseases [RCV002318234]|not provided [RCV001235860] |
Chr1:43432281 [GRCh38]
Chr1:43897952 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8568C>T (p.Phe2856=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318238] |
Chr1:43443420 [GRCh38]
Chr1:43909091 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5876T>C (p.Val1959Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457778]|Inborn genetic diseases [RCV002317547]|not provided [RCV000799666] |
Chr1:43434457 [GRCh38]
Chr1:43900128 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9426G>A (p.Val3142=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318181] |
Chr1:43447684 [GRCh38]
Chr1:43913355 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001542315]|Inborn genetic diseases [RCV002318207]|not provided [RCV001053926] |
Chr1:43437639 [GRCh38]
Chr1:43903310 [GRCh37]
Chr1:1p34.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.1296G>A (p.Leu432=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457791]|Inborn genetic diseases [RCV002318356]|not provided [RCV000870252] |
Chr1:43420783 [GRCh38]
Chr1:43886454 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2825G>A (p.Arg942Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457779]|Seizure [RCV000720180]|not provided [RCV001219593] |
Chr1:43425845 [GRCh38]
Chr1:43891516 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7873+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446397]|Inborn genetic diseases [RCV002317573]|not provided [RCV000802939] |
Chr1:43442135 [GRCh38]
Chr1:43907806 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.2315G>A (p.Gly772Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002317617] |
Chr1:43424276 [GRCh38]
Chr1:43889947 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8295C>T (p.Asp2765=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457784]|Inborn genetic diseases [RCV002317639]|not provided [RCV000866527] |
Chr1:43442962 [GRCh38]
Chr1:43908633 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4599C>T (p.Asp1533=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457786]|Inborn genetic diseases [RCV002318135]|not provided [RCV000866776] |
Chr1:43430614 [GRCh38]
Chr1:43896285 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.603G>A (p.Leu201=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458168]|Inborn genetic diseases [RCV002318165]|not provided [RCV002067062] |
Chr1:43415186 [GRCh38]
Chr1:43880857 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002318336]|not provided [RCV000869384] |
Chr1:43425907 [GRCh38]
Chr1:43891578 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.7446G>A (p.Glu2482=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457790]|Inborn genetic diseases [RCV002318343]|not provided [RCV003411659] |
Chr1:43441315 [GRCh38]
Chr1:43906986 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NC_000001.11:g.(?_43446935)_(43450500_?)del |
deletion |
not provided [RCV000815275] |
Chr1:43446935..43450500 [GRCh38]
Chr1:43912606..43916171 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001365999.1(SZT2):c.4401+28C>G |
single nucleotide variant |
not provided [RCV001540070] |
Chr1:43430131 [GRCh38]
Chr1:43895802 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8217G>A (p.Pro2739=) |
single nucleotide variant |
not provided [RCV000861534] |
Chr1:43442884 [GRCh38]
Chr1:43908555 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5274+75G>A |
single nucleotide variant |
not provided [RCV001581686] |
Chr1:43431976 [GRCh38]
Chr1:43897647 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2256-10C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446491]|SZT2-related condition [RCV003908161]|not provided [RCV000861579] |
Chr1:43424207 [GRCh38]
Chr1:43889878 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1262-99A>G |
single nucleotide variant |
not provided [RCV001666093] |
Chr1:43420650 [GRCh38]
Chr1:43886321 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.780C>T (p.Ile260=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457878]|Inborn genetic diseases [RCV002409071]|not provided [RCV000869507] |
Chr1:43416542 [GRCh38]
Chr1:43882213 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.9073-10G>A |
single nucleotide variant |
not provided [RCV000861866] |
Chr1:43446945 [GRCh38]
Chr1:43912616 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6273G>A (p.Lys2091=) |
single nucleotide variant |
not provided [RCV000918627] |
Chr1:43437491 [GRCh38]
Chr1:43903162 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6582A>G (p.Thr2194=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457844]|not provided [RCV000862079] |
Chr1:43438772 [GRCh38]
Chr1:43904443 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9795G>C (p.Leu3265=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457845]|Inborn genetic diseases [RCV002381912]|SZT2-related condition [RCV003955583]|not provided [RCV000862124] |
Chr1:43448310 [GRCh38]
Chr1:43913981 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3638G>A (p.Arg1213His) |
single nucleotide variant |
Encephalocele [RCV001257350]|not provided [RCV000863114] |
Chr1:43427569 [GRCh38]
Chr1:43893240 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8151+10G>C |
single nucleotide variant |
not provided [RCV000873460] |
Chr1:43442628 [GRCh38]
Chr1:43908299 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1446T>C (p.Arg482=) |
single nucleotide variant |
not provided [RCV000871047] |
Chr1:43420933 [GRCh38]
Chr1:43886604 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9073-172G>C |
single nucleotide variant |
not provided [RCV001567884] |
Chr1:43446783 [GRCh38]
Chr1:43912454 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9996C>T (p.Ser3332=) |
single nucleotide variant |
not provided [RCV001575393] |
Chr1:43448638 [GRCh38]
Chr1:43914309 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457794]|Inborn genetic diseases [RCV002533854]|not provided [RCV000760923] |
Chr1:43434453 [GRCh38]
Chr1:43900124 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.2476C>T (p.Arg826Ter) |
single nucleotide variant |
not provided [RCV000760644] |
Chr1:43424788 [GRCh38]
Chr1:43890459 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.7150G>A (p.Asp2384Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001004919]|SZT2-related condition [RCV003898029]|not provided [RCV001759685] |
Chr1:43439988 [GRCh38]
Chr1:43905659 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7033A>G (p.Ser2345Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457904]|not provided [RCV000993987] |
Chr1:43439760 [GRCh38]
Chr1:43905431 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1090+102G>T |
single nucleotide variant |
not provided [RCV001544861] |
Chr1:43420046 [GRCh38]
Chr1:43885717 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.630+42G>A |
single nucleotide variant |
not provided [RCV001572016] |
Chr1:43415255 [GRCh38]
Chr1:43880926 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-16C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002501891]|not provided [RCV001551481] |
Chr1:43442252 [GRCh38]
Chr1:43907923 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.9439A>G (p.Ser3147Gly) |
single nucleotide variant |
not provided [RCV000993234] |
Chr1:43447697 [GRCh38]
Chr1:43913368 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.772+214A>T |
single nucleotide variant |
not provided [RCV001576127] |
Chr1:43416315 [GRCh38]
Chr1:43881986 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2814+25G>A |
single nucleotide variant |
not provided [RCV001576188] |
Chr1:43425667 [GRCh38]
Chr1:43891338 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8237G>A (p.Arg2746Gln) |
single nucleotide variant |
not provided [RCV001550017] |
Chr1:43442904 [GRCh38]
Chr1:43908575 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10156-13G>A |
single nucleotide variant |
not provided [RCV001586426] |
Chr1:43450324 [GRCh38]
Chr1:43915995 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.4299C>T (p.Ser1433=) |
single nucleotide variant |
not provided [RCV000884136] |
Chr1:43429835 [GRCh38]
Chr1:43895506 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.993G>T (p.Pro331=) |
single nucleotide variant |
not provided [RCV000950353] |
Chr1:43419847 [GRCh38]
Chr1:43885518 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7404T>C (p.Asp2468=) |
single nucleotide variant |
not provided [RCV000929175] |
Chr1:43441273 [GRCh38]
Chr1:43906944 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7563G>A (p.Val2521=) |
single nucleotide variant |
not provided [RCV000866093] |
Chr1:43441555 [GRCh38]
Chr1:43907226 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6666G>C (p.Leu2222=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457876]|Inborn genetic diseases [RCV002352557]|not provided [RCV000868678] |
Chr1:43438967 [GRCh38]
Chr1:43904638 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1563G>A (p.Thr521=) |
single nucleotide variant |
not provided [RCV000869185] |
Chr1:43421240 [GRCh38]
Chr1:43886911 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6111C>T (p.Ser2037=) |
single nucleotide variant |
not provided [RCV000904173] |
Chr1:43437247 [GRCh38]
Chr1:43902918 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9270C>G (p.Arg3090=) |
single nucleotide variant |
not provided [RCV000864170] |
Chr1:43447152 [GRCh38]
Chr1:43912823 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457867]|Inborn genetic diseases [RCV002416015]|not provided [RCV000866178] |
Chr1:43442986 [GRCh38]
Chr1:43908657 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002254328]|Inborn genetic diseases [RCV002372702]|not provided [RCV000983878] |
Chr1:43448144 [GRCh38]
Chr1:43913815 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.8725C>T (p.Leu2909=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457887]|Inborn genetic diseases [RCV002444972]|not provided [RCV000878936] |
Chr1:43443696 [GRCh38]
Chr1:43909367 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5001A>G (p.Pro1667=) |
single nucleotide variant |
not provided [RCV000901616] |
Chr1:43431349 [GRCh38]
Chr1:43897020 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8619C>T (p.Asp2873=) |
single nucleotide variant |
not provided [RCV000867573] |
Chr1:43443471 [GRCh38]
Chr1:43909142 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3567C>T (p.His1189=) |
single nucleotide variant |
not provided [RCV000944983] |
Chr1:43427414 [GRCh38]
Chr1:43893085 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7686C>T (p.Thr2562=) |
single nucleotide variant |
not provided [RCV000869032] |
Chr1:43441762 [GRCh38]
Chr1:43907433 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4020C>T (p.Thr1340=) |
single nucleotide variant |
not provided [RCV000869150] |
Chr1:43428340 [GRCh38]
Chr1:43894011 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5166C>T (p.Arg1722=) |
single nucleotide variant |
not provided [RCV000877534] |
Chr1:43431793 [GRCh38]
Chr1:43897464 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6509-5T>C |
single nucleotide variant |
not provided [RCV000869893] |
Chr1:43438694 [GRCh38]
Chr1:43904365 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1284G>A (p.Lys428=) |
single nucleotide variant |
not provided [RCV000925808] |
Chr1:43420771 [GRCh38]
Chr1:43886442 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7074T>C (p.Asp2358=) |
single nucleotide variant |
not provided [RCV000869803] |
Chr1:43439912 [GRCh38]
Chr1:43905583 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.948C>T (p.Ile316=) |
single nucleotide variant |
not provided [RCV000869816] |
Chr1:43419802 [GRCh38]
Chr1:43885473 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.835C>T (p.Leu279=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457885]|Inborn genetic diseases [RCV002434160]|not provided [RCV000877018] |
Chr1:43416597 [GRCh38]
Chr1:43882268 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3355C>G (p.Pro1119Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002501262]|SZT2-related condition [RCV003975412]|not provided [RCV000866912] |
Chr1:43427101 [GRCh38]
Chr1:43892772 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7344+9A>G |
single nucleotide variant |
SZT2-related condition [RCV003928356]|not provided [RCV000863460] |
Chr1:43440595 [GRCh38]
Chr1:43906266 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.7671C>T (p.Ile2557=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457875]|Inborn genetic diseases [RCV002390797]|SZT2-related condition [RCV003965723]|not provided [RCV000868532] |
Chr1:43441747 [GRCh38]
Chr1:43907418 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5841G>A (p.Glu1947=) |
single nucleotide variant |
not provided [RCV000905133] |
Chr1:43434422 [GRCh38]
Chr1:43900093 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8649G>C (p.Gly2883=) |
single nucleotide variant |
not provided [RCV000928687] |
Chr1:43443620 [GRCh38]
Chr1:43909291 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3489G>A (p.Lys1163=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457871]|Inborn genetic diseases [RCV002319980]|not provided [RCV000867061] |
Chr1:43427336 [GRCh38]
Chr1:43893007 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.28-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002434095]|SZT2-related condition [RCV003965714]|not provided [RCV000867086] |
Chr1:43403172 [GRCh38]
Chr1:43868843 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.7060C>A (p.Arg2354=) |
single nucleotide variant |
not provided [RCV000863611] |
Chr1:43439898 [GRCh38]
Chr1:43905569 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5766G>A (p.Arg1922=) |
single nucleotide variant |
not provided [RCV000868597] |
Chr1:43433152 [GRCh38]
Chr1:43898823 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1488G>A (p.Thr496=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457855]|not provided [RCV000863773] |
Chr1:43420975 [GRCh38]
Chr1:43886646 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.78C>T (p.Ile26=) |
single nucleotide variant |
not provided [RCV000863783] |
Chr1:43403227 [GRCh38]
Chr1:43868898 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8125T>C (p.Leu2709=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457894]|Inborn genetic diseases [RCV002416220]|not provided [RCV000946254] |
Chr1:43442592 [GRCh38]
Chr1:43908263 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9411C>T (p.Asn3137=) |
single nucleotide variant |
not provided [RCV000864907] |
Chr1:43447669 [GRCh38]
Chr1:43913340 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.328-6C>T |
single nucleotide variant |
SZT2-related condition [RCV003908207]|not provided [RCV000864908] |
Chr1:43404374 [GRCh38]
Chr1:43870045 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6060G>A (p.Ala2020=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457862]|Inborn genetic diseases [RCV002352526]|not provided [RCV000864920] |
Chr1:43437196 [GRCh38]
Chr1:43902867 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8825+9G>A |
single nucleotide variant |
not provided [RCV000864976] |
Chr1:43443805 [GRCh38]
Chr1:43909476 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9201C>T (p.His3067=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457872]|Inborn genetic diseases [RCV002372435]|not provided [RCV000867296] |
Chr1:43447083 [GRCh38]
Chr1:43912754 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3810G>A (p.Gln1270=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457870]|not provided [RCV000866993] |
Chr1:43428009 [GRCh38]
Chr1:43893680 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6327A>G (p.Lys2109=) |
single nucleotide variant |
not provided [RCV000928233] |
Chr1:43437631 [GRCh38]
Chr1:43903302 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8811C>A (p.Pro2937=) |
single nucleotide variant |
not provided [RCV000906352] |
Chr1:43443782 [GRCh38]
Chr1:43909453 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4716C>T (p.Ser1572=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457863]|not provided [RCV000865031] |
Chr1:43430731 [GRCh38]
Chr1:43896402 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5089-4_5089-3del |
deletion |
Inborn genetic diseases [RCV002345960]|not provided [RCV000864080] |
Chr1:43431711..43431712 [GRCh38]
Chr1:43897382..43897383 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.1188A>C (p.Pro396=) |
single nucleotide variant |
not provided [RCV000926826] |
Chr1:43420250 [GRCh38]
Chr1:43885921 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8334C>T (p.Ser2778=) |
single nucleotide variant |
not provided [RCV000868810] |
Chr1:43443001 [GRCh38]
Chr1:43908672 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10224A>G (p.Gln3408=) |
single nucleotide variant |
not provided [RCV000868834] |
Chr1:43450405 [GRCh38]
Chr1:43916076 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4481-8A>G |
single nucleotide variant |
not provided [RCV000937657] |
Chr1:43430488 [GRCh38]
Chr1:43896159 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5937C>T (p.His1979=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457873]|Inborn genetic diseases [RCV002352549]|SZT2-related condition [RCV003955655]|not provided [RCV000868024] |
Chr1:43435232 [GRCh38]
Chr1:43900903 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3919+10A>G |
single nucleotide variant |
not provided [RCV000863339] |
Chr1:43428128 [GRCh38]
Chr1:43893799 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.693G>C (p.Val231=) |
single nucleotide variant |
not provided [RCV000904637] |
Chr1:43416022 [GRCh38]
Chr1:43881693 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6309C>T (p.Cys2103=) |
single nucleotide variant |
not provided [RCV000920996] |
Chr1:43437613 [GRCh38]
Chr1:43903284 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3219C>T (p.Ala1073=) |
single nucleotide variant |
not provided [RCV000966698] |
Chr1:43426719 [GRCh38]
Chr1:43892390 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6261G>A (p.Glu2087=) |
single nucleotide variant |
not provided [RCV000867205] |
Chr1:43437479 [GRCh38]
Chr1:43903150 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8187G>C (p.Val2729=) |
single nucleotide variant |
not provided [RCV000868161] |
Chr1:43442854 [GRCh38]
Chr1:43908525 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4095T>G (p.Pro1365=) |
single nucleotide variant |
not provided [RCV000871573] |
Chr1:43428415 [GRCh38]
Chr1:43894086 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4356C>T (p.Ser1452=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457877]|not provided [RCV000868981] |
Chr1:43430058 [GRCh38]
Chr1:43895729 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2820C>T (p.His940=) |
single nucleotide variant |
not provided [RCV000884724] |
Chr1:43425840 [GRCh38]
Chr1:43891511 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7272C>T (p.Pro2424=) |
single nucleotide variant |
not provided [RCV000868223] |
Chr1:43440514 [GRCh38]
Chr1:43906185 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6877+8G>A |
single nucleotide variant |
not provided [RCV000868250] |
Chr1:43439450 [GRCh38]
Chr1:43905121 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.993G>A (p.Pro331=) |
single nucleotide variant |
not provided [RCV000867327] |
Chr1:43419847 [GRCh38]
Chr1:43885518 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2250C>T (p.Leu750=) |
single nucleotide variant |
not provided [RCV000868478] |
Chr1:43423311 [GRCh38]
Chr1:43888982 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6306C>G (p.Ser2102=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457860]|Inborn genetic diseases [RCV002352522]|not provided [RCV000864685] |
Chr1:43437610 [GRCh38]
Chr1:43903281 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8556A>C (p.Thr2852=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003224482]|Inborn genetic diseases [RCV002434083]|not provided [RCV000864697] |
Chr1:43443408 [GRCh38]
Chr1:43909079 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1449A>G (p.Ser483=) |
single nucleotide variant |
not provided [RCV000925561] |
Chr1:43420936 [GRCh38]
Chr1:43886607 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.880-1G>C |
single nucleotide variant |
not provided [RCV001055431] |
Chr1:43419733 [GRCh38]
Chr1:43885404 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7759A>C (p.Ile2587Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457931]|Inborn genetic diseases [RCV002393276]|not provided [RCV001056421] |
Chr1:43442016 [GRCh38]
Chr1:43907687 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6071A>T (p.Tyr2024Phe) |
single nucleotide variant |
not provided [RCV001035541] |
Chr1:43437207 [GRCh38]
Chr1:43902878 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8999G>T (p.Gly3000Val) |
single nucleotide variant |
not provided [RCV001036362] |
Chr1:43446343 [GRCh38]
Chr1:43912014 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5813T>C (p.Ile1938Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002489659]|Inborn genetic diseases [RCV002348435]|not provided [RCV001059841] |
Chr1:43434394 [GRCh38]
Chr1:43900065 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9521C>T (p.Ala3174Val) |
single nucleotide variant |
not provided [RCV001063109] |
Chr1:43447929 [GRCh38]
Chr1:43913600 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7193C>G (p.Thr2398Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457936]|not provided [RCV001063270] |
Chr1:43440031 [GRCh38]
Chr1:43905702 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1340G>C (p.Trp447Ser) |
single nucleotide variant |
not provided [RCV001037732] |
Chr1:43420827 [GRCh38]
Chr1:43886498 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5668C>T (p.Pro1890Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335729]|not provided [RCV001038287] |
Chr1:43433054 [GRCh38]
Chr1:43898725 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8927C>G (p.Ser2976Cys) |
single nucleotide variant |
not provided [RCV001039434] |
Chr1:43446189 [GRCh38]
Chr1:43911860 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5444C>A (p.Thr1815Asn) |
single nucleotide variant |
not provided [RCV001039998] |
Chr1:43432518 [GRCh38]
Chr1:43898189 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.880-3C>T |
single nucleotide variant |
not provided [RCV001040818] |
Chr1:43419731 [GRCh38]
Chr1:43885402 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6547C>T (p.Arg2183Trp) |
single nucleotide variant |
not provided [RCV001041148] |
Chr1:43438737 [GRCh38]
Chr1:43904408 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5528G>A (p.Gly1843Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457912]|Inborn genetic diseases [RCV002348356]|not provided [RCV001041769] |
Chr1:43432602 [GRCh38]
Chr1:43898273 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4921A>G (p.Thr1641Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457915]|Inborn genetic diseases [RCV003283886]|not provided [RCV001042322] |
Chr1:43431269 [GRCh38]
Chr1:43896940 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5686C>G (p.Pro1896Ala) |
single nucleotide variant |
not provided [RCV001042666] |
Chr1:43433072 [GRCh38]
Chr1:43898743 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5845C>T (p.Arg1949Cys) |
single nucleotide variant |
not provided [RCV001042859] |
Chr1:43434426 [GRCh38]
Chr1:43900097 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7253G>A (p.Gly2418Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457917]|not provided [RCV001043285] |
Chr1:43440495 [GRCh38]
Chr1:43906166 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1797G>A (p.Pro599=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457918]|not provided [RCV001043315] |
Chr1:43422507 [GRCh38]
Chr1:43888178 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.6007C>T (p.Arg2003Cys) |
single nucleotide variant |
not provided [RCV001063037] |
Chr1:43435302 [GRCh38]
Chr1:43900973 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2354G>A (p.Ser785Asn) |
single nucleotide variant |
not provided [RCV001043707] |
Chr1:43424315 [GRCh38]
Chr1:43889986 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.257G>A (p.Arg86Gln) |
single nucleotide variant |
not provided [RCV001044613] |
Chr1:43403704 [GRCh38]
Chr1:43869375 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7570C>G (p.Arg2524Gly) |
single nucleotide variant |
not provided [RCV001044970] |
Chr1:43441562 [GRCh38]
Chr1:43907233 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3466G>A (p.Gly1156Arg) |
single nucleotide variant |
not provided [RCV001057394]|not specified [RCV003987771] |
Chr1:43427313 [GRCh38]
Chr1:43892984 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.479T>C (p.Ile160Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457938]|Inborn genetic diseases [RCV002555877]|not provided [RCV001068972] |
Chr1:43404531 [GRCh38]
Chr1:43870202 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9508_9511del (p.Cys3170fs) |
microsatellite |
not provided [RCV001069147] |
Chr1:43447912..43447915 [GRCh38]
Chr1:43913583..43913586 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001839028]|not provided [RCV001047784] |
Chr1:43448407 [GRCh38]
Chr1:43914078 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2914C>T (p.Pro972Ser) |
single nucleotide variant |
not provided [RCV001064918] |
Chr1:43425934 [GRCh38]
Chr1:43891605 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2075G>A (p.Arg692His) |
single nucleotide variant |
not provided [RCV001065512] |
Chr1:43423136 [GRCh38]
Chr1:43888807 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7516C>T (p.Arg2506Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003142029]|not provided [RCV001070997] |
Chr1:43441508 [GRCh38]
Chr1:43907179 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.400C>T (p.Arg134Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457937]|Inborn genetic diseases [RCV003307914]|not provided [RCV001066751] |
Chr1:43404452 [GRCh38]
Chr1:43870123 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.430G>A (p.Asp144Asn) |
single nucleotide variant |
not provided [RCV001066807] |
Chr1:43404482 [GRCh38]
Chr1:43870153 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4717G>A (p.Val1573Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457939]|Inborn genetic diseases [RCV003353154]|not provided [RCV001072097] |
Chr1:43430732 [GRCh38]
Chr1:43896403 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5285G>A (p.Arg1762His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003141979]|not provided [RCV001050073] |
Chr1:43432282 [GRCh38]
Chr1:43897953 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2220G>A (p.Val740=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457925]|not provided [RCV001050425] |
Chr1:43423281 [GRCh38]
Chr1:43888952 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5638G>A (p.Gly1880Ser) |
single nucleotide variant |
not provided [RCV001061680] |
Chr1:43433024 [GRCh38]
Chr1:43898695 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7669A>G (p.Ile2557Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002393261]|not provided [RCV001052024] |
Chr1:43441745 [GRCh38]
Chr1:43907416 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.7892G>A (p.Arg2631His) |
single nucleotide variant |
not provided [RCV001062286] |
Chr1:43442286 [GRCh38]
Chr1:43907957 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3219C>G (p.Ala1073=) |
single nucleotide variant |
not provided [RCV001053698] |
Chr1:43426719 [GRCh38]
Chr1:43892390 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.7642A>C (p.Met2548Leu) |
single nucleotide variant |
not provided [RCV001053952] |
Chr1:43441718 [GRCh38]
Chr1:43907389 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5183A>G (p.His1728Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457929]|not provided [RCV001053511] |
Chr1:43431810 [GRCh38]
Chr1:43897481 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10126G>A (p.Val3376Met) |
single nucleotide variant |
not provided [RCV001055178] |
Chr1:43450142 [GRCh38]
Chr1:43915813 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9260A>G (p.His3087Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001788355]|Inborn genetic diseases [RCV002442699]|not provided [RCV000807157] |
Chr1:43447142 [GRCh38]
Chr1:43912813 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.6034+5G>A |
single nucleotide variant |
not provided [RCV000807641] |
Chr1:43435334 [GRCh38]
Chr1:43901005 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7743-4A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446449]|Inborn genetic diseases [RCV002390659]|not provided [RCV000816062] |
Chr1:43441996 [GRCh38]
Chr1:43907667 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5330G>A (p.Gly1777Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457799]|Inborn genetic diseases [RCV002334471]|SZT2-related condition [RCV003396378]|not provided [RCV000793365] |
Chr1:43432327 [GRCh38]
Chr1:43897998 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4370T>A (p.Phe1457Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335727]|not provided [RCV000806726] |
Chr1:43430072 [GRCh38]
Chr1:43895743 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7830T>G (p.Leu2610=) |
single nucleotide variant |
not provided [RCV000864092] |
Chr1:43442087 [GRCh38]
Chr1:43907758 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9891G>T (p.Gly3297=) |
single nucleotide variant |
not provided [RCV000923553] |
Chr1:43448406 [GRCh38]
Chr1:43914077 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8547C>T (p.Tyr2849=) |
single nucleotide variant |
not provided [RCV000902833] |
Chr1:43443399 [GRCh38]
Chr1:43909070 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8163A>G (p.Pro2721=) |
single nucleotide variant |
not provided [RCV000868765] |
Chr1:43442830 [GRCh38]
Chr1:43908501 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7812T>A (p.Ala2604=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457848]|not provided [RCV000862809] |
Chr1:43442069 [GRCh38]
Chr1:43907740 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.2645+10G>C |
single nucleotide variant |
not provided [RCV000933056] |
Chr1:43425217 [GRCh38]
Chr1:43890888 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4404T>C (p.Asp1468=) |
single nucleotide variant |
not provided [RCV000939386] |
Chr1:43430313 [GRCh38]
Chr1:43895984 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9630C>T (p.Arg3210=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457881]|Inborn genetic diseases [RCV002372469]|SZT2-related condition [RCV003895327]|not provided [RCV000872268] |
Chr1:43448145 [GRCh38]
Chr1:43913816 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3306C>T (p.Ser1102=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457849]|SZT2-related condition [RCV003928347]|not provided [RCV000862914] |
Chr1:43426806 [GRCh38]
Chr1:43892477 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2875C>T (p.Leu959=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002507537]|not provided [RCV000876611] |
Chr1:43425895 [GRCh38]
Chr1:43891566 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2175C>T (p.Pro725=) |
single nucleotide variant |
not provided [RCV000866316] |
Chr1:43423236 [GRCh38]
Chr1:43888907 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9722C>T (p.Ala3241Val) |
single nucleotide variant |
not provided [RCV000868989] |
Chr1:43448237 [GRCh38]
Chr1:43913908 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6509-10C>T |
single nucleotide variant |
not provided [RCV000893843] |
Chr1:43438689 [GRCh38]
Chr1:43904360 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7816C>A (p.Arg2606=) |
single nucleotide variant |
not provided [RCV000916754] |
Chr1:43442073 [GRCh38]
Chr1:43907744 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4710G>A (p.Thr1570=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457842]|Inborn genetic diseases [RCV002332757]|not provided [RCV000861535] |
Chr1:43430725 [GRCh38]
Chr1:43896396 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2815-4G>A |
single nucleotide variant |
not provided [RCV000918420] |
Chr1:43425831 [GRCh38]
Chr1:43891502 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8584C>T (p.Leu2862=) |
single nucleotide variant |
not provided [RCV000867134] |
Chr1:43443436 [GRCh38]
Chr1:43909107 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002352511]|SZT2-related condition [RCV003928353]|Seizure [RCV001255051]|not provided [RCV000863287]|not specified [RCV003987724] |
Chr1:43437647 [GRCh38]
Chr1:43903318 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.8427G>A (p.Glu2809=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457850]|Inborn genetic diseases [RCV002427102]|not provided [RCV000863288]|not specified [RCV003987725] |
Chr1:43443195 [GRCh38]
Chr1:43908866 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1458T>C (p.Arg486=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457851]|Inborn genetic diseases [RCV002390752]|SZT2-related condition [RCV003955600]|not provided [RCV000863298] |
Chr1:43420945 [GRCh38]
Chr1:43886616 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6628-6C>G |
single nucleotide variant |
not provided [RCV000937723] |
Chr1:43438923 [GRCh38]
Chr1:43904594 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6936G>A (p.Ala2312=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457868]|not provided [RCV000866232] |
Chr1:43439663 [GRCh38]
Chr1:43905334 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7975-4C>T |
single nucleotide variant |
not provided [RCV000897588] |
Chr1:43442438 [GRCh38]
Chr1:43908109 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.108C>T (p.Leu36=) |
single nucleotide variant |
not provided [RCV000976780] |
Chr1:43403257 [GRCh38]
Chr1:43868928 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9351C>T (p.His3117=) |
single nucleotide variant |
not provided [RCV000867570] |
Chr1:43447609 [GRCh38]
Chr1:43913280 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9555C>T (p.His3185=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457843]|Inborn genetic diseases [RCV002372399]|not provided [RCV000861964] |
Chr1:43447963 [GRCh38]
Chr1:43913634 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7755A>G (p.Pro2585=) |
single nucleotide variant |
not provided [RCV000871563] |
Chr1:43442012 [GRCh38]
Chr1:43907683 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3018G>A (p.Gln1006=) |
single nucleotide variant |
not provided [RCV000866519] |
Chr1:43426126 [GRCh38]
Chr1:43891797 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5766G>C (p.Arg1922=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457879]|Inborn genetic diseases [RCV002345997]|not provided [RCV000869810] |
Chr1:43433152 [GRCh38]
Chr1:43898823 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5832G>A (p.Pro1944=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457889]|Inborn genetic diseases [RCV002346067]|not provided [RCV000898361] |
Chr1:43434413 [GRCh38]
Chr1:43900084 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3726C>T (p.Tyr1242=) |
single nucleotide variant |
not provided [RCV000909098] |
Chr1:43427657 [GRCh38]
Chr1:43893328 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.528T>C (p.Pro176=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457861]|Inborn genetic diseases [RCV002345966]|SZT2-related condition [RCV003955620]|not provided [RCV000864819] |
Chr1:43415111 [GRCh38]
Chr1:43880782 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4704C>T (p.His1568=) |
single nucleotide variant |
not provided [RCV000887377] |
Chr1:43430719 [GRCh38]
Chr1:43896390 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1770-7T>C |
single nucleotide variant |
not provided [RCV000916616] |
Chr1:43422473 [GRCh38]
Chr1:43888144 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2124A>T (p.Arg708=) |
single nucleotide variant |
not provided [RCV000864932] |
Chr1:43423185 [GRCh38]
Chr1:43888856 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8151+8_8151+9inv |
inversion |
not provided [RCV000865593] |
Chr1:43442626..43442627 [GRCh38]
Chr1:43908297..43908298 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-5T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002399863]|not provided [RCV000862284] |
Chr1:43442263 [GRCh38]
Chr1:43907934 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5559A>G (p.Leu1853=) |
single nucleotide variant |
not provided [RCV000979917] |
Chr1:43432756 [GRCh38]
Chr1:43898427 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5142C>T (p.Ile1714=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457846]|Inborn genetic diseases [RCV002336758]|not provided [RCV000862457] |
Chr1:43431769 [GRCh38]
Chr1:43897440 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7674G>A (p.Leu2558=) |
single nucleotide variant |
not provided [RCV000867652] |
Chr1:43441750 [GRCh38]
Chr1:43907421 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1815C>T (p.Tyr605=) |
single nucleotide variant |
not provided [RCV000951637] |
Chr1:43422525 [GRCh38]
Chr1:43888196 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3408G>A (p.Leu1136=) |
single nucleotide variant |
not provided [RCV000862529] |
Chr1:43427154 [GRCh38]
Chr1:43892825 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3803+7G>C |
single nucleotide variant |
not provided [RCV000924912] |
Chr1:43427741 [GRCh38]
Chr1:43893412 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8626-4A>T |
single nucleotide variant |
not provided [RCV000861137] |
Chr1:43443593 [GRCh38]
Chr1:43909264 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8316G>A (p.Thr2772=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457852]|not provided [RCV000863557] |
Chr1:43442983 [GRCh38]
Chr1:43908654 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6267A>T (p.Ala2089=) |
single nucleotide variant |
not provided [RCV000863596] |
Chr1:43437485 [GRCh38]
Chr1:43903156 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5412T>C (p.His1804=) |
single nucleotide variant |
not provided [RCV000944935] |
Chr1:43432409 [GRCh38]
Chr1:43898080 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9126G>A (p.Val3042=) |
single nucleotide variant |
not provided [RCV000866534] |
Chr1:43447008 [GRCh38]
Chr1:43912679 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5089-4G>A |
single nucleotide variant |
not provided [RCV000878929] |
Chr1:43431712 [GRCh38]
Chr1:43897383 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3215-7A>G |
single nucleotide variant |
not provided [RCV000865565] |
Chr1:43426708 [GRCh38]
Chr1:43892379 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2038-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002416205]|not provided [RCV000941217] |
Chr1:43423094 [GRCh38]
Chr1:43888765 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.7743-10C>G |
single nucleotide variant |
not provided [RCV000920292] |
Chr1:43441990 [GRCh38]
Chr1:43907661 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2409G>A (p.Pro803=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457864]|not provided [RCV000865632] |
Chr1:43424370 [GRCh38]
Chr1:43890041 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5523A>T (p.Pro1841=) |
single nucleotide variant |
not provided [RCV000866951] |
Chr1:43432597 [GRCh38]
Chr1:43898268 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1881C>T (p.Phe627=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457874]|not provided [RCV000868334] |
Chr1:43422591 [GRCh38]
Chr1:43888262 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8697G>C (p.Ser2899=) |
single nucleotide variant |
not provided [RCV000924805] |
Chr1:43443668 [GRCh38]
Chr1:43909339 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10239C>T (p.Tyr3413=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457856]|Inborn genetic diseases [RCV002415991]|not provided [RCV000863802] |
Chr1:43450420 [GRCh38]
Chr1:43916091 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2652G>A (p.Ser884=) |
single nucleotide variant |
SZT2-related condition [RCV003955610]|not provided [RCV000863846] |
Chr1:43425480 [GRCh38]
Chr1:43891151 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4419C>T (p.Asp1473=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457857]|not provided [RCV000863847] |
Chr1:43430328 [GRCh38]
Chr1:43895999 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9863C>T (p.Pro3288Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003248693] |
Chr1:43448378 [GRCh38]
Chr1:43914049 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001190880.3(HYI):c.791G>A (p.Arg264His) |
single nucleotide variant |
Inborn genetic diseases [RCV003270733] |
Chr1:43451281 [GRCh38]
Chr1:43916952 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7708G>A (p.Gly2570Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002390806]|SZT2-related condition [RCV003920381]|not provided [RCV000869508] |
Chr1:43441784 [GRCh38]
Chr1:43907455 [GRCh37]
Chr1:1p34.2 |
benign|likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8134C>T (p.Pro2712Ser) |
single nucleotide variant |
not provided [RCV000802547] |
Chr1:43442601 [GRCh38]
Chr1:43908272 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6511C>T (p.Pro2171Ser) |
single nucleotide variant |
not provided [RCV000809833] |
Chr1:43438701 [GRCh38]
Chr1:43904372 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9823C>T (p.Arg3275Trp) |
single nucleotide variant |
not provided [RCV000815612] |
Chr1:43448338 [GRCh38]
Chr1:43914009 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7013G>A (p.Arg2338His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457834]|Inborn genetic diseases [RCV002537420]|not provided [RCV000817295] |
Chr1:43439740 [GRCh38]
Chr1:43905411 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3368G>A (p.Arg1123His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457809]|Inborn genetic diseases [RCV002325550]|not provided [RCV000802679] |
Chr1:43427114 [GRCh38]
Chr1:43892785 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6587T>C (p.Met2196Thr) |
single nucleotide variant |
not provided [RCV000813918] |
Chr1:43438777 [GRCh38]
Chr1:43904448 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5803C>T (p.Arg1935Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457818]|Inborn genetic diseases [RCV002345832]|not provided [RCV000810226] |
Chr1:43433189 [GRCh38]
Chr1:43898860 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2386C>G (p.Gln796Glu) |
single nucleotide variant |
not provided [RCV000796567] |
Chr1:43424347 [GRCh38]
Chr1:43890018 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4379G>C (p.Cys1460Ser) |
single nucleotide variant |
not provided [RCV000802729] |
Chr1:43430081 [GRCh38]
Chr1:43895752 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9800G>A (p.Arg3267Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457798]|Inborn genetic diseases [RCV002370070]|not provided [RCV000793171] |
Chr1:43448315 [GRCh38]
Chr1:43913986 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6877+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446460]|not provided [RCV000821311] |
Chr1:43439447 [GRCh38]
Chr1:43905118 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.5841G>C (p.Glu1947Asp) |
single nucleotide variant |
not provided [RCV000813224] |
Chr1:43434422 [GRCh38]
Chr1:43900093 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9486C>T (p.Asp3162=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457896]|not provided [RCV000975998] |
Chr1:43447894 [GRCh38]
Chr1:43913565 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1923-6C>A |
single nucleotide variant |
not provided [RCV000818057] |
Chr1:43422763 [GRCh38]
Chr1:43888434 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3617G>T (p.Gly1206Val) |
single nucleotide variant |
not provided [RCV000814555] |
Chr1:43427548 [GRCh38]
Chr1:43893219 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8848G>A (p.Ala2950Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457826]|Inborn genetic diseases [RCV002442724]|not provided [RCV000813600] |
Chr1:43445916 [GRCh38]
Chr1:43911587 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8639_8640del (p.Pro2880fs) |
deletion |
not provided [RCV000817614] |
Chr1:43443610..43443611 [GRCh38]
Chr1:43909281..43909282 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.2528T>C (p.Met843Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457838]|Inborn genetic diseases [RCV002537499]|not provided [RCV000821217] |
Chr1:43424840 [GRCh38]
Chr1:43890511 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5251C>T (p.Arg1751Cys) |
single nucleotide variant |
not provided [RCV000798421] |
Chr1:43431878 [GRCh38]
Chr1:43897549 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6665T>C (p.Leu2222Pro) |
single nucleotide variant |
not provided [RCV000797271] |
Chr1:43438966 [GRCh38]
Chr1:43904637 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3215G>A (p.Gly1072Asp) |
single nucleotide variant |
not provided [RCV000797403] |
Chr1:43426715 [GRCh38]
Chr1:43892386 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7800C>T (p.Pro2600=) |
single nucleotide variant |
not provided [RCV000976127] |
Chr1:43442057 [GRCh38]
Chr1:43907728 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4054G>T (p.Gly1352Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001824890]|not provided [RCV000814961] |
Chr1:43428374 [GRCh38]
Chr1:43894045 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.8027G>A (p.Arg2676Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457839]|Inborn genetic diseases [RCV002408995]|not provided [RCV000823881] |
Chr1:43442494 [GRCh38]
Chr1:43908165 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9938C>T (p.Ala3313Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457831]|SZT2-related condition [RCV003955525]|not provided [RCV000816288] |
Chr1:43448453 [GRCh38]
Chr1:43914124 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.7864A>G (p.Thr2622Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457832]|not provided [RCV000816316] |
Chr1:43442121 [GRCh38]
Chr1:43907792 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7718G>C (p.Ser2573Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457898]|not provided [RCV000993232] |
Chr1:43441794 [GRCh38]
Chr1:43907465 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6317G>A (p.Arg2106Gln) |
single nucleotide variant |
not provided [RCV000794874] |
Chr1:43437621 [GRCh38]
Chr1:43903292 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7012C>T (p.Arg2338Cys) |
single nucleotide variant |
not provided [RCV000799917] |
Chr1:43439739 [GRCh38]
Chr1:43905410 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5825G>A (p.Gly1942Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457833]|Inborn genetic diseases [RCV002345872]|not provided [RCV000816468] |
Chr1:43434406 [GRCh38]
Chr1:43900077 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002265897]|not provided [RCV000819767] |
Chr1:43439080 [GRCh38]
Chr1:43904751 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6885C>T (p.Ala2295=) |
single nucleotide variant |
not provided [RCV000936272] |
Chr1:43439612 [GRCh38]
Chr1:43905283 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV001814237]|Inborn genetic diseases [RCV002370099]|not provided [RCV000798389] |
Chr1:43443777 [GRCh38]
Chr1:43909448 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.6768T>C (p.Asp2256=) |
single nucleotide variant |
not provided [RCV000869749] |
Chr1:43439069 [GRCh38]
Chr1:43904740 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3443G>A (p.Arg1148His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457821]|not provided [RCV000811934] |
Chr1:43427290 [GRCh38]
Chr1:43892961 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1943A>G (p.Asn648Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002406724]|not provided [RCV000791800] |
Chr1:43422789 [GRCh38]
Chr1:43888460 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8775G>C (p.Gln2925His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330850]|not provided [RCV000810924] |
Chr1:43443746 [GRCh38]
Chr1:43909417 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8664G>C (p.Glu2888Asp) |
single nucleotide variant |
not provided [RCV000814683] |
Chr1:43443635 [GRCh38]
Chr1:43909306 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5009C>G (p.Pro1670Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457830]|Inborn genetic diseases [RCV002534851]|not provided [RCV000814753] |
Chr1:43431357 [GRCh38]
Chr1:43897028 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.914G>A (p.Gly305Asp) |
single nucleotide variant |
not provided [RCV000818314] |
Chr1:43419768 [GRCh38]
Chr1:43885439 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8626C>T (p.Arg2876Trp) |
single nucleotide variant |
not provided [RCV000803617] |
Chr1:43443597 [GRCh38]
Chr1:43909268 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5426A>T (p.Glu1809Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003141856]|not provided [RCV000821775] |
Chr1:43432423 [GRCh38]
Chr1:43898094 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.656G>A (p.Gly219Glu) |
single nucleotide variant |
not provided [RCV000812029] |
Chr1:43415985 [GRCh38]
Chr1:43881656 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5651C>T (p.Thr1884Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457805]|not provided [RCV000798558] |
Chr1:43433037 [GRCh38]
Chr1:43898708 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2774A>T (p.Lys925Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457836]|Inborn genetic diseases [RCV002434000]|not provided [RCV000818366] |
Chr1:43425602 [GRCh38]
Chr1:43891273 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8870G>A (p.Arg2957Gln) |
single nucleotide variant |
not provided [RCV000801927] |
Chr1:43445938 [GRCh38]
Chr1:43911609 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1738C>G (p.His580Asp) |
single nucleotide variant |
not provided [RCV000993980] |
Chr1:43422194 [GRCh38]
Chr1:43887865 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5680C>T (p.Arg1894Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457903]|Inborn genetic diseases [RCV002550659]|not provided [RCV000993986] |
Chr1:43433066 [GRCh38]
Chr1:43898737 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3755A>C (p.Gln1252Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457802]|Inborn genetic diseases [RCV002458431]|not provided [RCV000795900] |
Chr1:43427686 [GRCh38]
Chr1:43893357 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.593C>T (p.Ala198Val) |
single nucleotide variant |
not provided [RCV000791598] |
Chr1:43415176 [GRCh38]
Chr1:43880847 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7316C>T (p.Ala2439Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330848]|not provided [RCV000811435] |
Chr1:43440558 [GRCh38]
Chr1:43906229 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7744G>T (p.Gly2582Cys) |
single nucleotide variant |
not provided [RCV000818548] |
Chr1:43442001 [GRCh38]
Chr1:43907672 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4541G>A (p.Arg1514Gln) |
single nucleotide variant |
not provided [RCV000805609] |
Chr1:43430556 [GRCh38]
Chr1:43896227 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.682G>A (p.Val228Ile) |
single nucleotide variant |
not provided [RCV000812592] |
Chr1:43416011 [GRCh38]
Chr1:43881682 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4210C>T (p.Arg1404Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457797]|Inborn genetic diseases [RCV002535853]|not provided [RCV000791843] |
Chr1:43429746 [GRCh38]
Chr1:43895417 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1872G>C (p.Trp624Cys) |
single nucleotide variant |
not provided [RCV000816930] |
Chr1:43422582 [GRCh38]
Chr1:43888253 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4201C>G (p.Gln1401Glu) |
single nucleotide variant |
not provided [RCV000820429] |
Chr1:43429737 [GRCh38]
Chr1:43895408 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3854G>A (p.Arg1285Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457813]|not provided [RCV000805669] |
Chr1:43428053 [GRCh38]
Chr1:43893724 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2345C>T (p.Ala782Val) |
single nucleotide variant |
not provided [RCV000796465] |
Chr1:43424306 [GRCh38]
Chr1:43889977 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6628-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446437]|Inborn genetic diseases [RCV002360971]|not provided [RCV000804777] |
Chr1:43438926 [GRCh38]
Chr1:43904597 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4540C>T (p.Arg1514Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003444108]|not provided [RCV000802299] |
Chr1:43430555 [GRCh38]
Chr1:43896226 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.3700C>T (p.Arg1234Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457837]|Inborn genetic diseases [RCV002453882]|not provided [RCV000820485] |
Chr1:43427631 [GRCh38]
Chr1:43893302 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9596G>A (p.Arg3199Gln) |
single nucleotide variant |
not provided [RCV000809127] |
Chr1:43448111 [GRCh38]
Chr1:43913782 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6961C>T (p.Pro2321Ser) |
single nucleotide variant |
not provided [RCV000809195] |
Chr1:43439688 [GRCh38]
Chr1:43905359 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.9631C>A (p.Arg3211Ser) |
single nucleotide variant |
not provided [RCV000804166] |
Chr1:43448146 [GRCh38]
Chr1:43913817 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6532G>T (p.Val2178Leu) |
single nucleotide variant |
not provided [RCV000804214] |
Chr1:43438722 [GRCh38]
Chr1:43904393 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9903G>A (p.Leu3301=) |
single nucleotide variant |
not provided [RCV000804228] |
Chr1:43448418 [GRCh38]
Chr1:43914089 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1626G>A (p.Pro542=) |
single nucleotide variant |
not provided [RCV000804236] |
Chr1:43421303 [GRCh38]
Chr1:43886974 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7657C>T (p.Leu2553Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457817]|Inborn genetic diseases [RCV002538052]|not provided [RCV000809381] |
Chr1:43441733 [GRCh38]
Chr1:43907404 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7799C>T (p.Pro2600Leu) |
single nucleotide variant |
not provided [RCV000792941] |
Chr1:43442056 [GRCh38]
Chr1:43907727 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7802G>A (p.Arg2601His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457806]|Inborn genetic diseases [RCV002388465]|not provided [RCV000799049] |
Chr1:43442059 [GRCh38]
Chr1:43907730 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3561G>T (p.Lys1187Asn) |
single nucleotide variant |
not provided [RCV000793377] |
Chr1:43427408 [GRCh38]
Chr1:43893079 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6431G>A (p.Arg2144His) |
single nucleotide variant |
not provided [RCV000803227] |
Chr1:43437825 [GRCh38]
Chr1:43903496 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4262G>T (p.Cys1421Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003141836]|not provided [RCV000815840] |
Chr1:43429798 [GRCh38]
Chr1:43895469 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4795G>A (p.Glu1599Lys) |
single nucleotide variant |
not provided [RCV000799441] |
Chr1:43430969 [GRCh38]
Chr1:43896640 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8995C>T (p.Gln2999Ter) |
single nucleotide variant |
not provided [RCV000793664] |
Chr1:43446257 [GRCh38]
Chr1:43911928 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9478C>T (p.Gln3160Ter) |
single nucleotide variant |
not provided [RCV000793848] |
Chr1:43447886 [GRCh38]
Chr1:43913557 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.10G>A (p.Glu4Lys) |
single nucleotide variant |
not provided [RCV000799801] |
Chr1:43389978 [GRCh38]
Chr1:43855649 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6472C>G (p.His2158Asp) |
single nucleotide variant |
not provided [RCV000822903] |
Chr1:43437866 [GRCh38]
Chr1:43903537 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_001365999.1(SZT2):c.3823C>G (p.Pro1275Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457824]|Inborn genetic diseases [RCV002453845]|not provided [RCV000813310] |
Chr1:43428022 [GRCh38]
Chr1:43893693 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8258G>A (p.Gly2753Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457825]|Inborn genetic diseases [RCV002422805]|not provided [RCV000813433] |
Chr1:43442925 [GRCh38]
Chr1:43908596 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2585A>G (p.Lys862Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457812]|not provided [RCV000804131] |
Chr1:43425147 [GRCh38]
Chr1:43890818 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9887G>T (p.Gly3296Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457835]|Inborn genetic diseases [RCV002372315]|SZT2-related condition [RCV003975333]|not provided [RCV000817472]|not specified [RCV003396434] |
Chr1:43448402 [GRCh38]
Chr1:43914073 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.9632G>A (p.Arg3211His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457827]|Inborn genetic diseases [RCV003166325]|not provided [RCV000813679] |
Chr1:43448147 [GRCh38]
Chr1:43913818 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9969+4A>G |
single nucleotide variant |
not provided [RCV000794241] |
Chr1:43448488 [GRCh38]
Chr1:43914159 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3985G>A (p.Ala1329Thr) |
single nucleotide variant |
not provided [RCV000804800] |
Chr1:43428305 [GRCh38]
Chr1:43893976 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1762C>G (p.His588Asp) |
single nucleotide variant |
not provided [RCV000791585] |
Chr1:43422218 [GRCh38]
Chr1:43887889 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1222C>A (p.Arg408=) |
single nucleotide variant |
not provided [RCV000824110] |
Chr1:43420284 [GRCh38]
Chr1:43885955 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4951T>A (p.Ser1651Thr) |
single nucleotide variant |
not provided [RCV000824115] |
Chr1:43431299 [GRCh38]
Chr1:43896970 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2176G>A (p.Val726Met) |
single nucleotide variant |
not provided [RCV000808284] |
Chr1:43423237 [GRCh38]
Chr1:43888908 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4756A>G (p.Ser1586Gly) |
single nucleotide variant |
not provided [RCV000810703] |
Chr1:43430771 [GRCh38]
Chr1:43896442 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1241G>T (p.Arg414Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457829]|Inborn genetic diseases [RCV002534850]|not provided [RCV000814752] |
Chr1:43420303 [GRCh38]
Chr1:43885974 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6290+6T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446438]|Inborn genetic diseases [RCV002534814]|not provided [RCV000805642] |
Chr1:43437514 [GRCh38]
Chr1:43903185 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.697G>A (p.Ala233Thr) |
single nucleotide variant |
not provided [RCV000808686] |
Chr1:43416026 [GRCh38]
Chr1:43881697 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.653C>T (p.Ser218Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002507434]|not provided [RCV000818567] |
Chr1:43415982 [GRCh38]
Chr1:43881653 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4255G>C (p.Asp1419His) |
single nucleotide variant |
not provided [RCV000798540] |
Chr1:43429791 [GRCh38]
Chr1:43895462 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5831C>T (p.Pro1944Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457819]|Inborn genetic diseases [RCV002345839]|not provided [RCV000811302] |
Chr1:43434412 [GRCh38]
Chr1:43900083 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2008A>G (p.Ile670Val) |
single nucleotide variant |
not provided [RCV000805685] |
Chr1:43422854 [GRCh38]
Chr1:43888525 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4532T>C (p.Val1511Ala) |
single nucleotide variant |
not provided [RCV000809371] |
Chr1:43430547 [GRCh38]
Chr1:43896218 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5390C>T (p.Ala1797Val) |
single nucleotide variant |
not provided [RCV000802822] |
Chr1:43432387 [GRCh38]
Chr1:43898058 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002507371]|Inborn genetic diseases [RCV002537005]|Seizure [RCV001263329]|not provided [RCV000795603] |
Chr1:43431311 [GRCh38]
Chr1:43896982 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8254C>T (p.Arg2752Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457822]|not provided [RCV000812035] |
Chr1:43442921 [GRCh38]
Chr1:43908592 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3658G>A (p.Ala1220Thr) |
single nucleotide variant |
not provided [RCV000795695] |
Chr1:43427589 [GRCh38]
Chr1:43893260 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7271CCCCTG[3] (p.Ala2426_Pro2427dup) |
microsatellite |
not provided [RCV000812401] |
Chr1:43440512..43440513 [GRCh38]
Chr1:43906183..43906184 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4508C>T (p.Thr1503Ile) |
single nucleotide variant |
not provided [RCV000807190] |
Chr1:43430523 [GRCh38]
Chr1:43896194 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7395T>G (p.Ile2465Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457815]|Inborn genetic diseases [RCV002370151]|not provided [RCV000807372] |
Chr1:43441264 [GRCh38]
Chr1:43906935 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8615C>A (p.Pro2872His) |
single nucleotide variant |
not provided [RCV000807617] |
Chr1:43443467 [GRCh38]
Chr1:43909138 [GRCh37]
Chr1:1p34.2 |
benign|uncertain significance |
| NM_001365999.1(SZT2):c.6781A>C (p.Asn2261His) |
single nucleotide variant |
not provided [RCV000812763] |
Chr1:43439082 [GRCh38]
Chr1:43904753 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5816G>A (p.Arg1939Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457816]|not provided [RCV000807871] |
Chr1:43434397 [GRCh38]
Chr1:43900068 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10228G>T (p.Val3410Phe) |
single nucleotide variant |
not provided [RCV000791991] |
Chr1:43450409 [GRCh38]
Chr1:43916080 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001270099]|Inborn genetic diseases [RCV002424887]|not provided [RCV000808589] |
Chr1:43425161 [GRCh38]
Chr1:43890832 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9239C>T (p.Ala3080Val) |
single nucleotide variant |
not provided [RCV000795730] |
Chr1:43447121 [GRCh38]
Chr1:43912792 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6940T>C (p.Trp2314Arg) |
single nucleotide variant |
not provided [RCV000798411] |
Chr1:43439667 [GRCh38]
Chr1:43905338 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4055G>A (p.Gly1352Asp) |
single nucleotide variant |
not provided [RCV000804928] |
Chr1:43428375 [GRCh38]
Chr1:43894046 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9999G>A (p.Trp3333Ter) |
single nucleotide variant |
not provided [RCV000821384] |
Chr1:43448641 [GRCh38]
Chr1:43914312 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8347G>A (p.Val2783Met) |
single nucleotide variant |
not provided [RCV000793876] |
Chr1:43443014 [GRCh38]
Chr1:43908685 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3689C>T (p.Ala1230Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003338801]|not provided [RCV000795873] |
Chr1:43427620 [GRCh38]
Chr1:43893291 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3742G>T (p.Ala1248Ser) |
single nucleotide variant |
not provided [RCV000818240] |
Chr1:43427673 [GRCh38]
Chr1:43893344 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9947T>C (p.Ile3316Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457840]|Inborn genetic diseases [RCV002536020]|not provided [RCV000824389] |
Chr1:43448462 [GRCh38]
Chr1:43914133 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5433C>T (p.Ile1811=) |
single nucleotide variant |
not provided [RCV000920931] |
Chr1:43432430 [GRCh38]
Chr1:43898101 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8471G>A (p.Arg2824His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457803]|not provided [RCV000795992] |
Chr1:43443239 [GRCh38]
Chr1:43908910 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1988T>G (p.Val663Gly) |
single nucleotide variant |
not provided [RCV000798698] |
Chr1:43422834 [GRCh38]
Chr1:43888505 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.264C>T (p.Thr88=) |
single nucleotide variant |
not provided [RCV000980958] |
Chr1:43403711 [GRCh38]
Chr1:43869382 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6284A>G (p.Tyr2095Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330844]|not provided [RCV000818529] |
Chr1:43437502 [GRCh38]
Chr1:43903173 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2759G>A (p.Gly920Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330839]|not provided [RCV000818604] |
Chr1:43425587 [GRCh38]
Chr1:43891258 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.767G>A (p.Ser256Asn) |
single nucleotide variant |
not provided [RCV000796402] |
Chr1:43416096 [GRCh38]
Chr1:43881767 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2125A>G (p.Lys709Glu) |
single nucleotide variant |
not provided [RCV000796452] |
Chr1:43423186 [GRCh38]
Chr1:43888857 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1894G>A (p.Gly632Ser) |
single nucleotide variant |
not provided [RCV000815460] |
Chr1:43422604 [GRCh38]
Chr1:43888275 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8588A>G (p.His2863Arg) |
single nucleotide variant |
not provided [RCV000815596] |
Chr1:43443440 [GRCh38]
Chr1:43909111 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7891C>T (p.Arg2631Cys) |
single nucleotide variant |
not provided [RCV000818814] |
Chr1:43442285 [GRCh38]
Chr1:43907956 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1146C>T (p.Ala382=) |
single nucleotide variant |
not provided [RCV000873309] |
Chr1:43420208 [GRCh38]
Chr1:43885879 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.917A>C (p.His306Pro) |
single nucleotide variant |
not provided [RCV000794304] |
Chr1:43419771 [GRCh38]
Chr1:43885442 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9248C>G (p.Pro3083Arg) |
single nucleotide variant |
not provided [RCV000822450] |
Chr1:43447130 [GRCh38]
Chr1:43912801 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9473G>A (p.Arg3158Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457810]|Inborn genetic diseases [RCV002370125]|not provided [RCV000802881] |
Chr1:43447881 [GRCh38]
Chr1:43913552 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9257C>T (p.Pro3086Leu) |
single nucleotide variant |
not provided [RCV000816108] |
Chr1:43447139 [GRCh38]
Chr1:43912810 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.962T>A (p.Phe321Tyr) |
single nucleotide variant |
not provided [RCV000822932] |
Chr1:43419816 [GRCh38]
Chr1:43885487 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7479G>A (p.Ala2493=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457853]|Inborn genetic diseases [RCV002381921]|not provided [RCV000863572] |
Chr1:43441348 [GRCh38]
Chr1:43907019 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3853C>T (p.Arg1285Trp) |
single nucleotide variant |
not provided [RCV000816200] |
Chr1:43428052 [GRCh38]
Chr1:43893723 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1584C>T (p.Ser528=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457854]|Inborn genetic diseases [RCV002399874]|not provided [RCV000863679] |
Chr1:43421261 [GRCh38]
Chr1:43886932 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.2533C>G (p.Leu845Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457820]|not provided [RCV000811371]|not specified [RCV002265891] |
Chr1:43424845 [GRCh38]
Chr1:43890516 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5161C>T (p.His1721Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457807]|Inborn genetic diseases [RCV002534638]|not provided [RCV000800442] |
Chr1:43431788 [GRCh38]
Chr1:43897459 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8752C>T (p.Gln2918Ter) |
single nucleotide variant |
not provided [RCV003312124] |
Chr1:43443723 [GRCh38]
Chr1:43909394 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4993G>A (p.Gly1665Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457800]|Inborn genetic diseases [RCV002334478]|not provided [RCV000795183] |
Chr1:43431341 [GRCh38]
Chr1:43897012 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1863G>C (p.Leu621=) |
single nucleotide variant |
not provided [RCV000918679] |
Chr1:43422573 [GRCh38]
Chr1:43888244 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6064C>T (p.Arg2022Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003325976]|not provided [RCV000811718] |
Chr1:43437200 [GRCh38]
Chr1:43902871 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.8201G>C (p.Arg2734Pro) |
single nucleotide variant |
not provided [RCV000795371] |
Chr1:43442868 [GRCh38]
Chr1:43908539 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8757A>G (p.Gln2919=) |
single nucleotide variant |
not provided [RCV000814176] |
Chr1:43443728 [GRCh38]
Chr1:43909399 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.3710G>A (p.Cys1237Tyr) |
single nucleotide variant |
not provided [RCV000814190] |
Chr1:43427641 [GRCh38]
Chr1:43893312 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2942G>A (p.Gly981Glu) |
single nucleotide variant |
not provided [RCV000823482] |
Chr1:43426050 [GRCh38]
Chr1:43891721 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7266C>T (p.Thr2422=) |
single nucleotide variant |
not provided [RCV000893502] |
Chr1:43440508 [GRCh38]
Chr1:43906179 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5088+11dup |
duplication |
not provided [RCV000862175] |
Chr1:43431528..43431529 [GRCh38]
Chr1:43897199..43897200 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7651C>T (p.Arg2551Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457801]|Inborn genetic diseases [RCV002388434]|not provided [RCV000795394] |
Chr1:43441727 [GRCh38]
Chr1:43907398 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.401G>A (p.Arg134Gln) |
single nucleotide variant |
not provided [RCV000811927] |
Chr1:43404453 [GRCh38]
Chr1:43870124 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7322G>A (p.Arg2441Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457828]|Inborn genetic diseases [RCV002363117]|not provided [RCV000814506] |
Chr1:43440564 [GRCh38]
Chr1:43906235 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8424G>A (p.Leu2808=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457859]|Inborn genetic diseases [RCV002427109]|not provided [RCV000864117] |
Chr1:43443192 [GRCh38]
Chr1:43908863 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001365999.1(SZT2):c.7231T>C (p.Leu2411=) |
single nucleotide variant |
not provided [RCV000864150] |
Chr1:43440473 [GRCh38]
Chr1:43906144 [GRCh37]
Chr1:1p34.2 |
likely benign |
| GRCh37/hg19 1p34.2-34.1(chr1:43787578-44221212)x3 |
copy number gain |
not provided [RCV000847475] |
Chr1:43787578..44221212 [GRCh37]
Chr1:1p34.2-34.1 |
uncertain significance |
| NM_001365999.1(SZT2):c.1000G>T (p.Gly334Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457897]|not provided [RCV000993231] |
Chr1:43419854 [GRCh38]
Chr1:43885525 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6324G>A (p.Trp2108Ter) |
single nucleotide variant |
not provided [RCV001008691] |
Chr1:43437628 [GRCh38]
Chr1:43903299 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.17C>G (p.Pro6Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457899]|not provided [RCV000993979] |
Chr1:43389985 [GRCh38]
Chr1:43855656 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2468C>T (p.Thr823Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457900]|not provided [RCV000993981] |
Chr1:43424429 [GRCh38]
Chr1:43890100 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2500G>A (p.Ala834Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457901]|not provided [RCV000993983] |
Chr1:43424812 [GRCh38]
Chr1:43890483 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7270C>G (p.Pro2424Ala) |
single nucleotide variant |
not provided [RCV000993988] |
Chr1:43440512 [GRCh38]
Chr1:43906183 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6014G>A (p.Arg2005Gln) |
single nucleotide variant |
not provided [RCV001225927] |
Chr1:43435309 [GRCh38]
Chr1:43900980 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3904C>T (p.Arg1302Trp) |
single nucleotide variant |
not provided [RCV001217271] |
Chr1:43428103 [GRCh38]
Chr1:43893774 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7477G>C (p.Ala2493Pro) |
single nucleotide variant |
not provided [RCV001215151] |
Chr1:43441346 [GRCh38]
Chr1:43907017 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5801C>T (p.Ala1934Val) |
single nucleotide variant |
not provided [RCV001230154] |
Chr1:43433187 [GRCh38]
Chr1:43898858 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2987T>C (p.Met996Thr) |
single nucleotide variant |
not provided [RCV001220359] |
Chr1:43426095 [GRCh38]
Chr1:43891766 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6289C>T (p.Arg2097Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457962]|not provided [RCV001220987] |
Chr1:43437507 [GRCh38]
Chr1:43903178 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9727G>A (p.Gly3243Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457950]|Inborn genetic diseases [RCV002375139]|not provided [RCV001205932] |
Chr1:43448242 [GRCh38]
Chr1:43913913 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.536G>A (p.Arg179Gln) |
single nucleotide variant |
not provided [RCV001212686] |
Chr1:43415119 [GRCh38]
Chr1:43880790 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8151+5C>A |
single nucleotide variant |
not provided [RCV001216190] |
Chr1:43442623 [GRCh38]
Chr1:43908294 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1331T>C (p.Met444Thr) |
single nucleotide variant |
not provided [RCV001224640] |
Chr1:43420818 [GRCh38]
Chr1:43886489 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4511A>C (p.Glu1504Ala) |
single nucleotide variant |
not provided [RCV000993984] |
Chr1:43430526 [GRCh38]
Chr1:43896197 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.750dup (p.Leu251fs) |
duplication |
not provided [RCV001172213] |
Chr1:43416078..43416079 [GRCh38]
Chr1:43881749..43881750 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.410G>A (p.Arg137Gln) |
single nucleotide variant |
not provided [RCV001218576] |
Chr1:43404462 [GRCh38]
Chr1:43870133 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2069G>A (p.Arg690Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002564091]|not provided [RCV001244862] |
Chr1:43423130 [GRCh38]
Chr1:43888801 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.7874-10C>A |
single nucleotide variant |
not provided [RCV001246633] |
Chr1:43442258 [GRCh38]
Chr1:43907929 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.6784C>T (p.His2262Tyr) |
single nucleotide variant |
not provided [RCV001246780] |
Chr1:43439085 [GRCh38]
Chr1:43904756 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8428C>T (p.Arg2810Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457965]|Inborn genetic diseases [RCV002429940]|not provided [RCV001222220] |
Chr1:43443196 [GRCh38]
Chr1:43908867 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5719T>C (p.Ser1907Pro) |
single nucleotide variant |
not provided [RCV001222629] |
Chr1:43433105 [GRCh38]
Chr1:43898776 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6283T>G (p.Tyr2095Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457955]|not provided [RCV001212054] |
Chr1:43437501 [GRCh38]
Chr1:43903172 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4664C>G (p.Pro1555Arg) |
single nucleotide variant |
not provided [RCV001212185] |
Chr1:43430679 [GRCh38]
Chr1:43896350 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6836A>C (p.Tyr2279Ser) |
single nucleotide variant |
not provided [RCV001544869] |
Chr1:43439401 [GRCh38]
Chr1:43905072 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.4033G>A (p.Ala1345Thr) |
single nucleotide variant |
not provided [RCV001231581] |
Chr1:43428353 [GRCh38]
Chr1:43894024 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6352G>T (p.Ala2118Ser) |
single nucleotide variant |
not provided [RCV001237881] |
Chr1:43437656 [GRCh38]
Chr1:43903327 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.158A>C (p.Gln53Pro) |
single nucleotide variant |
not provided [RCV001201817] |
Chr1:43403605 [GRCh38]
Chr1:43869276 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6420G>A (p.Met2140Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457943]|Inborn genetic diseases [RCV003163516]|not provided [RCV001201951] |
Chr1:43437814 [GRCh38]
Chr1:43903485 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2422C>A (p.Pro808Thr) |
single nucleotide variant |
not provided [RCV001243770] |
Chr1:43424383 [GRCh38]
Chr1:43890054 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5804G>A (p.Arg1935Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457951]|Inborn genetic diseases [RCV002348675]|not provided [RCV001206329] |
Chr1:43433190 [GRCh38]
Chr1:43898861 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2381A>G (p.Tyr794Cys) |
single nucleotide variant |
not provided [RCV001207640] |
Chr1:43424342 [GRCh38]
Chr1:43890013 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5995C>T (p.Pro1999Ser) |
single nucleotide variant |
not provided [RCV001207932] |
Chr1:43435290 [GRCh38]
Chr1:43900961 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7724G>T (p.Arg2575Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457971]|Inborn genetic diseases [RCV002393606]|not provided [RCV001238002] |
Chr1:43441800 [GRCh38]
Chr1:43907471 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7519A>G (p.Thr2507Ala) |
single nucleotide variant |
not provided [RCV001238674] |
Chr1:43441511 [GRCh38]
Chr1:43907182 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9412G>A (p.Glu3138Lys) |
single nucleotide variant |
not provided [RCV001212295] |
Chr1:43447670 [GRCh38]
Chr1:43913341 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7135C>T (p.Arg2379Cys) |
single nucleotide variant |
not provided [RCV001213336] |
Chr1:43439973 [GRCh38]
Chr1:43905644 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9253G>A (p.Gly3085Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457952]|not provided [RCV001209984] |
Chr1:43447135 [GRCh38]
Chr1:43912806 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9776G>A (p.Arg3259Gln) |
single nucleotide variant |
not provided [RCV001210503] |
Chr1:43448291 [GRCh38]
Chr1:43913962 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003883168]|not provided [RCV001215371] |
Chr1:43443630 [GRCh38]
Chr1:43909301 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.6778C>T (p.Arg2260Trp) |
single nucleotide variant |
not provided [RCV001212094] |
Chr1:43439079 [GRCh38]
Chr1:43904750 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8344C>T (p.Pro2782Ser) |
single nucleotide variant |
not provided [RCV001213286] |
Chr1:43443011 [GRCh38]
Chr1:43908682 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5791T>C (p.Tyr1931His) |
single nucleotide variant |
not provided [RCV001214503] |
Chr1:43433177 [GRCh38]
Chr1:43898848 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4424T>C (p.Val1475Ala) |
single nucleotide variant |
not provided [RCV001217697] |
Chr1:43430333 [GRCh38]
Chr1:43896004 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7681T>C (p.Phe2561Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457960]|Inborn genetic diseases [RCV002393527]|not provided [RCV001219838] |
Chr1:43441757 [GRCh38]
Chr1:43907428 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3665G>A (p.Arg1222His) |
single nucleotide variant |
not provided [RCV001221438] |
Chr1:43427596 [GRCh38]
Chr1:43893267 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2384A>G (p.His795Arg) |
single nucleotide variant |
not provided [RCV001222219] |
Chr1:43424345 [GRCh38]
Chr1:43890016 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1028G>A (p.Arg343Gln) |
single nucleotide variant |
not provided [RCV001222314] |
Chr1:43419882 [GRCh38]
Chr1:43885553 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4982A>T (p.Asp1661Val) |
single nucleotide variant |
not provided [RCV001222485] |
Chr1:43431330 [GRCh38]
Chr1:43897001 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5489A>G (p.Glu1830Gly) |
single nucleotide variant |
not provided [RCV001227780] |
Chr1:43432563 [GRCh38]
Chr1:43898234 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.91C>T (p.Arg31Cys) |
single nucleotide variant |
not provided [RCV001223898] |
Chr1:43403240 [GRCh38]
Chr1:43868911 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8330G>C (p.Ser2777Thr) |
single nucleotide variant |
not provided [RCV000993233] |
Chr1:43442997 [GRCh38]
Chr1:43908668 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6508+4A>G |
single nucleotide variant |
not provided [RCV001227199] |
Chr1:43437906 [GRCh38]
Chr1:43903577 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5699C>T (p.Ala1900Val) |
single nucleotide variant |
not provided [RCV001227484] |
Chr1:43433085 [GRCh38]
Chr1:43898756 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8641G>C (p.Glu2881Gln) |
single nucleotide variant |
not provided [RCV001206794] |
Chr1:43443612 [GRCh38]
Chr1:43909283 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6812G>C (p.Gly2271Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457945]|Inborn genetic diseases [RCV002561124]|not provided [RCV001203293] |
Chr1:43439377 [GRCh38]
Chr1:43905048 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1334C>A (p.Ala445Glu) |
single nucleotide variant |
not provided [RCV001204147] |
Chr1:43420821 [GRCh38]
Chr1:43886492 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6673G>T (p.Ala2225Ser) |
single nucleotide variant |
not provided [RCV001204963] |
Chr1:43438974 [GRCh38]
Chr1:43904645 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6935C>T (p.Ala2312Val) |
single nucleotide variant |
not provided [RCV001205075] |
Chr1:43439662 [GRCh38]
Chr1:43905333 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.119A>G (p.His40Arg) |
single nucleotide variant |
not provided [RCV001235004] |
Chr1:43403268 [GRCh38]
Chr1:43868939 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3913G>A (p.Val1305Ile) |
single nucleotide variant |
not provided [RCV001235039] |
Chr1:43428112 [GRCh38]
Chr1:43893783 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5779C>T (p.Arg1927Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330843]|not provided [RCV001228521] |
Chr1:43433165 [GRCh38]
Chr1:43898836 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4915C>A (p.Arg1639=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457967]|not provided [RCV001230114] |
Chr1:43431089 [GRCh38]
Chr1:43896760 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.610C>T (p.Gln204Ter) |
single nucleotide variant |
not provided [RCV001209806] |
Chr1:43415193 [GRCh38]
Chr1:43880864 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3233T>G (p.Leu1078Arg) |
single nucleotide variant |
not provided [RCV001205361] |
Chr1:43426733 [GRCh38]
Chr1:43892404 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3397C>T (p.His1133Tyr) |
single nucleotide variant |
not provided [RCV001247896] |
Chr1:43427143 [GRCh38]
Chr1:43892814 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2471+8A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446571]|not provided [RCV000993982] |
Chr1:43424440 [GRCh38]
Chr1:43890111 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7706C>T (p.Ala2569Val) |
single nucleotide variant |
not provided [RCV001202660] |
Chr1:43441782 [GRCh38]
Chr1:43907453 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9638G>A (p.Arg3213Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457959]|Inborn genetic diseases [RCV002447102]|not provided [RCV001218931] |
Chr1:43448153 [GRCh38]
Chr1:43913824 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2348C>A (p.Ser783Tyr) |
single nucleotide variant |
not provided [RCV001233446] |
Chr1:43424309 [GRCh38]
Chr1:43889980 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5217A>G (p.Gln1739=) |
single nucleotide variant |
not provided [RCV001220598] |
Chr1:43431844 [GRCh38]
Chr1:43897515 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5088+2T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002510590]|not provided [RCV001233641] |
Chr1:43431525 [GRCh38]
Chr1:43897196 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.1625C>T (p.Pro542Leu) |
single nucleotide variant |
not provided [RCV001234102] |
Chr1:43421302 [GRCh38]
Chr1:43886973 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.608A>G (p.Gln203Arg) |
single nucleotide variant |
not provided [RCV001222141] |
Chr1:43415191 [GRCh38]
Chr1:43880862 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7976T>G (p.Leu2659Arg) |
single nucleotide variant |
not provided [RCV001238510] |
Chr1:43442443 [GRCh38]
Chr1:43908114 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.284G>A (p.Arg95Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457973]|Inborn genetic diseases [RCV002563923]|not provided [RCV001238771] |
Chr1:43403731 [GRCh38]
Chr1:43869402 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3790G>A (p.Asp1264Asn) |
single nucleotide variant |
not provided [RCV001238812] |
Chr1:43427721 [GRCh38]
Chr1:43893392 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6881T>G (p.Val2294Gly) |
single nucleotide variant |
Seizure [RCV001615032] |
Chr1:43439608 [GRCh38]
Chr1:43905279 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.7478C>T (p.Ala2493Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457974]|Inborn genetic diseases [RCV003166489]|not provided [RCV001239307] |
Chr1:43441347 [GRCh38]
Chr1:43907018 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8930C>A (p.Pro2977Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457975]|Inborn genetic diseases [RCV002375262]|not provided [RCV001239426] |
Chr1:43446192 [GRCh38]
Chr1:43911863 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8569G>A (p.Asp2857Asn) |
single nucleotide variant |
not provided [RCV001239698] |
Chr1:43443421 [GRCh38]
Chr1:43909092 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4720C>T (p.Arg1574Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457940]|not provided [RCV001091415] |
Chr1:43430735 [GRCh38]
Chr1:43896406 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9167A>G (p.Gln3056Arg) |
single nucleotide variant |
not provided [RCV001225771] |
Chr1:43447049 [GRCh38]
Chr1:43912720 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5333T>G (p.Phe1778Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003493826]|not provided [RCV001226781] |
Chr1:43432330 [GRCh38]
Chr1:43898001 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5833G>T (p.Gly1945Cys) |
single nucleotide variant |
not provided [RCV001226920] |
Chr1:43434414 [GRCh38]
Chr1:43900085 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5020G>A (p.Glu1674Lys) |
single nucleotide variant |
not provided [RCV001227956] |
Chr1:43431368 [GRCh38]
Chr1:43897039 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5282G>A (p.Arg1761His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457976]|Inborn genetic diseases [RCV002563954]|not provided [RCV001239742] |
Chr1:43432279 [GRCh38]
Chr1:43897950 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5048C>T (p.Ala1683Val) |
single nucleotide variant |
not provided [RCV001229559] |
Chr1:43431483 [GRCh38]
Chr1:43897154 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1445G>A (p.Arg482His) |
single nucleotide variant |
not provided [RCV001232120] |
Chr1:43420932 [GRCh38]
Chr1:43886603 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2920G>T (p.Val974Phe) |
single nucleotide variant |
not provided [RCV001202395] |
Chr1:43425940 [GRCh38]
Chr1:43891611 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2572G>T (p.Ala858Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003273576] |
Chr1:43425134 [GRCh38]
Chr1:43890805 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4610_4611del (p.Val1537fs) |
microsatellite |
not provided [RCV003106371] |
Chr1:43430623..43430624 [GRCh38]
Chr1:43896294..43896295 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8074A>C (p.Ile2692Leu) |
single nucleotide variant |
not specified [RCV003231050] |
Chr1:43442541 [GRCh38]
Chr1:43908212 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6712G>T (p.Ala2238Ser) |
single nucleotide variant |
not provided [RCV003104961] |
Chr1:43439013 [GRCh38]
Chr1:43904684 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7061G>A (p.Arg2354Gln) |
single nucleotide variant |
not provided [RCV003104250] |
Chr1:43439899 [GRCh38]
Chr1:43905570 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.498+173T>C |
single nucleotide variant |
not provided [RCV001582003] |
Chr1:43404723 [GRCh38]
Chr1:43870394 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8420-36A>G |
single nucleotide variant |
not provided [RCV001582294] |
Chr1:43443152 [GRCh38]
Chr1:43908823 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5089-45A>G |
single nucleotide variant |
not provided [RCV001550131] |
Chr1:43431671 [GRCh38]
Chr1:43897342 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2256-221C>T |
single nucleotide variant |
not provided [RCV001551701] |
Chr1:43423996 [GRCh38]
Chr1:43889667 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.900T>C (p.Tyr300=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458073]|not provided [RCV001552461] |
Chr1:43419754 [GRCh38]
Chr1:43885425 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7511+41G>A |
single nucleotide variant |
not provided [RCV001641176] |
Chr1:43441421 [GRCh38]
Chr1:43907092 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1538_1540del (p.Phe513del) |
deletion |
not provided [RCV003104482] |
Chr1:43421213..43421215 [GRCh38]
Chr1:43886884..43886886 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4817G>A (p.Arg1606Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003293160] |
Chr1:43430991 [GRCh38]
Chr1:43896662 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.952A>G (p.Met318Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458074]|Inborn genetic diseases [RCV002370196]|not provided [RCV001553323] |
Chr1:43419806 [GRCh38]
Chr1:43885477 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3215-50G>A |
single nucleotide variant |
not provided [RCV001599116] |
Chr1:43426665 [GRCh38]
Chr1:43892336 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2038-85G>A |
single nucleotide variant |
not provided [RCV001583486] |
Chr1:43423014 [GRCh38]
Chr1:43888685 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.772+213G>T |
single nucleotide variant |
not provided [RCV001549977] |
Chr1:43416314 [GRCh38]
Chr1:43881985 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.27+244C>T |
single nucleotide variant |
not provided [RCV001723004] |
Chr1:43390239 [GRCh38]
Chr1:43855910 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.6816C>T (p.Gly2272=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458077]|not provided [RCV001576463] |
Chr1:43439381 [GRCh38]
Chr1:43905052 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1262-14C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446829]|not provided [RCV001556656] |
Chr1:43420735 [GRCh38]
Chr1:43886406 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.1262-70C>T |
single nucleotide variant |
not provided [RCV001589764] |
Chr1:43420679 [GRCh38]
Chr1:43886350 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.327+238C>T |
single nucleotide variant |
not provided [RCV001586678] |
Chr1:43404012 [GRCh38]
Chr1:43869683 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2814+22C>T |
single nucleotide variant |
not provided [RCV001592176] |
Chr1:43425664 [GRCh38]
Chr1:43891335 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1922+38A>C |
single nucleotide variant |
not provided [RCV001657397] |
Chr1:43422670 [GRCh38]
Chr1:43888341 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1922+36_1922+51dup |
duplication |
not provided [RCV001592237] |
Chr1:43422665..43422666 [GRCh38]
Chr1:43888336..43888337 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1262-36G>T |
single nucleotide variant |
not provided [RCV001570017] |
Chr1:43420713 [GRCh38]
Chr1:43886384 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2645+54C>A |
single nucleotide variant |
not provided [RCV001613814] |
Chr1:43425261 [GRCh38]
Chr1:43890932 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1922+45C>G |
single nucleotide variant |
not provided [RCV001565314] |
Chr1:43422677 [GRCh38]
Chr1:43888348 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6508+29C>T |
single nucleotide variant |
not provided [RCV001548560] |
Chr1:43437931 [GRCh38]
Chr1:43903602 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9287-21C>T |
single nucleotide variant |
not provided [RCV001718255] |
Chr1:43447524 [GRCh38]
Chr1:43913195 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2255+188_2255+229dup |
duplication |
not provided [RCV001670266] |
Chr1:43423479..43423480 [GRCh38]
Chr1:43889150..43889151 [GRCh37]
Chr1:1p34.2 |
benign |
| NC_000001.11:g.43389819C>T |
single nucleotide variant |
not provided [RCV001616299] |
Chr1:43389819 [GRCh38]
Chr1:43855490 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.773-85G>A |
single nucleotide variant |
not provided [RCV001552240] |
Chr1:43416450 [GRCh38]
Chr1:43882121 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9287-48G>A |
single nucleotide variant |
not provided [RCV001719418] |
Chr1:43447497 [GRCh38]
Chr1:43913168 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.773-207G>A |
single nucleotide variant |
not provided [RCV001719450] |
Chr1:43416328 [GRCh38]
Chr1:43881999 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1261+136A>C |
single nucleotide variant |
not provided [RCV001559554] |
Chr1:43420459 [GRCh38]
Chr1:43886130 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5804+286G>T |
single nucleotide variant |
not provided [RCV001547602] |
Chr1:43433476 [GRCh38]
Chr1:43899147 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.630+49T>G |
single nucleotide variant |
not provided [RCV001588154] |
Chr1:43415262 [GRCh38]
Chr1:43880933 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6535C>A (p.Arg2179=) |
single nucleotide variant |
not provided [RCV000940074] |
Chr1:43438725 [GRCh38]
Chr1:43904396 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5910G>C (p.Leu1970=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457865]|SZT2-related condition [RCV003948107]|not provided [RCV000865902] |
Chr1:43435205 [GRCh38]
Chr1:43900876 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.327+7G>T |
single nucleotide variant |
not provided [RCV000862070] |
Chr1:43403781 [GRCh38]
Chr1:43869452 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9287-8T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446490]|not provided [RCV000861546]|not specified [RCV003479229] |
Chr1:43447537 [GRCh38]
Chr1:43913208 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.2038-4T>G |
single nucleotide variant |
not provided [RCV000872870] |
Chr1:43423095 [GRCh38]
Chr1:43888766 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8373C>T (p.Thr2791=) |
single nucleotide variant |
not provided [RCV000918915] |
Chr1:43443040 [GRCh38]
Chr1:43908711 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5739C>T (p.Cys1913=) |
single nucleotide variant |
not provided [RCV000873091] |
Chr1:43433125 [GRCh38]
Chr1:43898796 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9739C>T (p.Leu3247=) |
single nucleotide variant |
not provided [RCV000941081] |
Chr1:43448254 [GRCh38]
Chr1:43913925 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5274+7T>C |
single nucleotide variant |
not provided [RCV000944816] |
Chr1:43431908 [GRCh38]
Chr1:43897579 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001190880.3(HYI):c.822G>A (p.Glu274=) |
single nucleotide variant |
not provided [RCV000895133] |
Chr1:43451250 [GRCh38]
Chr1:43916921 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7782G>A (p.Gly2594=) |
single nucleotide variant |
not provided [RCV000978538] |
Chr1:43442039 [GRCh38]
Chr1:43907710 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9072+9A>T |
single nucleotide variant |
not provided [RCV000910697] |
Chr1:43446425 [GRCh38]
Chr1:43912096 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6657A>G (p.Ser2219=) |
single nucleotide variant |
not provided [RCV000930435] |
Chr1:43438958 [GRCh38]
Chr1:43904629 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5415G>A (p.Glu1805=) |
single nucleotide variant |
not provided [RCV000931026] |
Chr1:43432412 [GRCh38]
Chr1:43898083 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7527G>A (p.Gln2509=) |
single nucleotide variant |
not provided [RCV000878899] |
Chr1:43441519 [GRCh38]
Chr1:43907190 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6738C>T (p.Leu2246=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457886]|Inborn genetic diseases [RCV002363320]|not provided [RCV000878935] |
Chr1:43439039 [GRCh38]
Chr1:43904710 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.753A>G (p.Leu251=) |
single nucleotide variant |
not provided [RCV000914639] |
Chr1:43416082 [GRCh38]
Chr1:43881753 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8148A>G (p.Glu2716=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457847]|SZT2-related condition [RCV003965657]|not provided [RCV000862787] |
Chr1:43442615 [GRCh38]
Chr1:43908286 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6336G>A (p.Ala2112=) |
single nucleotide variant |
not provided [RCV000916705] |
Chr1:43437640 [GRCh38]
Chr1:43903311 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7935C>T (p.Pro2645=) |
single nucleotide variant |
not provided [RCV000869111] |
Chr1:43442329 [GRCh38]
Chr1:43908000 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6793-4C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002363279]|not provided [RCV000872570] |
Chr1:43439354 [GRCh38]
Chr1:43905025 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.1854C>G (p.Thr618=) |
single nucleotide variant |
not provided [RCV000867062] |
Chr1:43422564 [GRCh38]
Chr1:43888235 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2253C>T (p.Ile751=) |
single nucleotide variant |
not provided [RCV000869367] |
Chr1:43423314 [GRCh38]
Chr1:43888985 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5530+6_5530+7insC |
insertion |
not provided [RCV000915119] |
Chr1:43432610..43432611 [GRCh38]
Chr1:43898281..43898282 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1425T>C (p.Cys475=) |
single nucleotide variant |
not provided [RCV000928586] |
Chr1:43420912 [GRCh38]
Chr1:43886583 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.773-9C>G |
single nucleotide variant |
not provided [RCV000945882] |
Chr1:43416526 [GRCh38]
Chr1:43882197 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8388G>A (p.Gln2796=) |
single nucleotide variant |
not provided [RCV000926253] |
Chr1:43443055 [GRCh38]
Chr1:43908726 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2721G>A (p.Glu907=) |
single nucleotide variant |
not provided [RCV000937330] |
Chr1:43425549 [GRCh38]
Chr1:43891220 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8118T>C (p.Tyr2706=) |
single nucleotide variant |
not provided [RCV000929917] |
Chr1:43442585 [GRCh38]
Chr1:43908256 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7146G>A (p.Leu2382=) |
single nucleotide variant |
not provided [RCV000910256] |
Chr1:43439984 [GRCh38]
Chr1:43905655 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8967G>A (p.Gly2989=) |
single nucleotide variant |
not provided [RCV000910776] |
Chr1:43446229 [GRCh38]
Chr1:43911900 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5007A>G (p.Pro1669=) |
single nucleotide variant |
not provided [RCV000933320] |
Chr1:43431355 [GRCh38]
Chr1:43897026 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2930-8C>T |
single nucleotide variant |
not provided [RCV000937273] |
Chr1:43426030 [GRCh38]
Chr1:43891701 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.768T>C (p.Ser256=) |
single nucleotide variant |
not provided [RCV000938312] |
Chr1:43416097 [GRCh38]
Chr1:43881768 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5790G>A (p.Val1930=) |
single nucleotide variant |
not provided [RCV000887648] |
Chr1:43433176 [GRCh38]
Chr1:43898847 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2019A>G (p.Pro673=) |
single nucleotide variant |
not provided [RCV000981355] |
Chr1:43422865 [GRCh38]
Chr1:43888536 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001190880.3(HYI):c.743G>C (p.Cys248Ser) |
single nucleotide variant |
not provided [RCV000964811] |
Chr1:43451427 [GRCh38]
Chr1:43917098 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.8895C>G (p.Thr2965=) |
single nucleotide variant |
not provided [RCV000973210] |
Chr1:43445963 [GRCh38]
Chr1:43911634 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8167C>T (p.Leu2723=) |
single nucleotide variant |
not provided [RCV000943332] |
Chr1:43442834 [GRCh38]
Chr1:43908505 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8214C>T (p.Pro2738=) |
single nucleotide variant |
not provided [RCV000943366] |
Chr1:43442881 [GRCh38]
Chr1:43908552 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5977C>T (p.Leu1993=) |
single nucleotide variant |
not provided [RCV000921510] |
Chr1:43435272 [GRCh38]
Chr1:43900943 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.222G>C (p.Val74=) |
single nucleotide variant |
not provided [RCV000929469] |
Chr1:43403669 [GRCh38]
Chr1:43869340 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10156-8C>G |
single nucleotide variant |
not provided [RCV000917015] |
Chr1:43450329 [GRCh38]
Chr1:43916000 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5073G>A (p.Glu1691=) |
single nucleotide variant |
not provided [RCV000930168] |
Chr1:43431508 [GRCh38]
Chr1:43897179 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3623T>A (p.Leu1208Gln) |
single nucleotide variant |
not provided [RCV001214870] |
Chr1:43427554 [GRCh38]
Chr1:43893225 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6750C>G (p.His2250Gln) |
single nucleotide variant |
not provided [RCV001234859] |
Chr1:43439051 [GRCh38]
Chr1:43904722 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8818G>A (p.Ala2940Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457970]|Inborn genetic diseases [RCV002563830]|not provided [RCV001235583] |
Chr1:43443789 [GRCh38]
Chr1:43909460 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1091-1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446657]|not provided [RCV001215323] |
Chr1:43420152 [GRCh38]
Chr1:43885823 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.3530A>G (p.Asp1177Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457957]|Inborn genetic diseases [RCV003294040]|not provided [RCV001216075] |
Chr1:43427377 [GRCh38]
Chr1:43893048 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5417A>T (p.Asp1806Val) |
single nucleotide variant |
not provided [RCV001037239] |
Chr1:43432414 [GRCh38]
Chr1:43898085 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1213G>C (p.Val405Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457906]|not provided [RCV001037509] |
Chr1:43420275 [GRCh38]
Chr1:43885946 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1352C>T (p.Pro451Leu) |
single nucleotide variant |
not provided [RCV001039163] |
Chr1:43420839 [GRCh38]
Chr1:43886510 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1103G>A (p.Arg368His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457972]|not provided [RCV001238737] |
Chr1:43420165 [GRCh38]
Chr1:43885836 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002226758]|not provided [RCV001200332] |
Chr1:43435200 [GRCh38]
Chr1:43900871 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.1555C>G (p.His519Asp) |
single nucleotide variant |
not provided [RCV001046732] |
Chr1:43421232 [GRCh38]
Chr1:43886903 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6603C>T (p.Cys2201=) |
single nucleotide variant |
not provided [RCV001241116] |
Chr1:43438793 [GRCh38]
Chr1:43904464 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1496+5G>T |
single nucleotide variant |
not provided [RCV001241368] |
Chr1:43420988 [GRCh38]
Chr1:43886659 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6281A>G (p.Tyr2094Cys) |
single nucleotide variant |
not provided [RCV001049597] |
Chr1:43437499 [GRCh38]
Chr1:43903170 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001836936]|Inborn genetic diseases [RCV002374902]|not provided [RCV001050423] |
Chr1:43448314 [GRCh38]
Chr1:43913985 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2915C>T (p.Pro972Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457944]|Inborn genetic diseases [RCV002436776]|not provided [RCV001202656] |
Chr1:43425935 [GRCh38]
Chr1:43891606 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6263G>A (p.Arg2088Gln) |
single nucleotide variant |
not provided [RCV001206947] |
Chr1:43437481 [GRCh38]
Chr1:43903152 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001089976]|not provided [RCV001206248] |
Chr1:43415999 [GRCh38]
Chr1:43881670 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9074T>C (p.Leu3025Pro) |
single nucleotide variant |
not provided [RCV001052740] |
Chr1:43446956 [GRCh38]
Chr1:43912627 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8383C>A (p.Gln2795Lys) |
single nucleotide variant |
not provided [RCV001054227] |
Chr1:43443050 [GRCh38]
Chr1:43908721 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.14G>T (p.Arg5Leu) |
single nucleotide variant |
not provided [RCV001207986] |
Chr1:43389982 [GRCh38]
Chr1:43855653 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2408C>T (p.Pro803Leu) |
single nucleotide variant |
not provided [RCV001054623] |
Chr1:43424369 [GRCh38]
Chr1:43890040 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4166+4A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446601]|not provided [RCV001055681]|not specified [RCV003396689] |
Chr1:43428490 [GRCh38]
Chr1:43894161 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1216C>T (p.Arg406Trp) |
single nucleotide variant |
not provided [RCV001055950] |
Chr1:43420278 [GRCh38]
Chr1:43885949 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.390C>T (p.Gly130=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457932]|not provided [RCV001056639] |
Chr1:43404442 [GRCh38]
Chr1:43870113 [GRCh37]
Chr1:1p34.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.6956C>T (p.Pro2319Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457933]|Inborn genetic diseases [RCV002554413]|not provided [RCV001058940] |
Chr1:43439683 [GRCh38]
Chr1:43905354 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7837A>G (p.Arg2613Gly) |
single nucleotide variant |
not provided [RCV001060036] |
Chr1:43442094 [GRCh38]
Chr1:43907765 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7019C>T (p.Pro2340Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457934]|Inborn genetic diseases [RCV002365733]|not provided [RCV001060232] |
Chr1:43439746 [GRCh38]
Chr1:43905417 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9542A>C (p.Glu3181Ala) |
single nucleotide variant |
not provided [RCV001060323] |
Chr1:43447950 [GRCh38]
Chr1:43913621 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3374A>G (p.Tyr1125Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457953]|Inborn genetic diseases [RCV003284051]|not provided [RCV001211098] |
Chr1:43427120 [GRCh38]
Chr1:43892791 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7042+5G>T |
single nucleotide variant |
not provided [RCV001211288] |
Chr1:43439774 [GRCh38]
Chr1:43905445 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6145C>T (p.His2049Tyr) |
single nucleotide variant |
not provided [RCV001212426] |
Chr1:43437281 [GRCh38]
Chr1:43902952 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8669C>T (p.Pro2890Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457956]|not provided [RCV001213337] |
Chr1:43443640 [GRCh38]
Chr1:43909311 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10254_10257del (p.Val3419fs) |
deletion |
not provided [RCV001063484] |
Chr1:43450432..43450435 [GRCh38]
Chr1:43916103..43916106 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7258G>C (p.Ala2420Pro) |
single nucleotide variant |
not provided [RCV001064068] |
Chr1:43440500 [GRCh38]
Chr1:43906171 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7067G>T (p.Arg2356Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457966]|not provided [RCV001229435] |
Chr1:43439905 [GRCh38]
Chr1:43905576 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4510G>A (p.Glu1504Lys) |
single nucleotide variant |
not provided [RCV001232152] |
Chr1:43430525 [GRCh38]
Chr1:43896196 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5905-10C>T |
single nucleotide variant |
not provided [RCV000891366] |
Chr1:43435190 [GRCh38]
Chr1:43900861 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1353T>A (p.Pro451=) |
single nucleotide variant |
not provided [RCV000911217] |
Chr1:43420840 [GRCh38]
Chr1:43886511 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5496C>G (p.Val1832=) |
single nucleotide variant |
not provided [RCV000911341] |
Chr1:43432570 [GRCh38]
Chr1:43898241 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5391G>A (p.Ala1797=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457888]|Inborn genetic diseases [RCV002336871]|not provided [RCV000889415] |
Chr1:43432388 [GRCh38]
Chr1:43898059 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6057T>C (p.Cys2019=) |
single nucleotide variant |
not provided [RCV000911771] |
Chr1:43437193 [GRCh38]
Chr1:43902864 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5091C>T (p.Ile1697=) |
single nucleotide variant |
not provided [RCV000934702] |
Chr1:43431718 [GRCh38]
Chr1:43897389 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6396+9C>T |
single nucleotide variant |
not provided [RCV000935237] |
Chr1:43437709 [GRCh38]
Chr1:43903380 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6513T>G (p.Pro2171=) |
single nucleotide variant |
not provided [RCV000911846] |
Chr1:43438703 [GRCh38]
Chr1:43904374 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.153+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001843594]|not provided [RCV001562542] |
Chr1:43403303 [GRCh38]
Chr1:43868974 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.4916+79G>T |
single nucleotide variant |
not provided [RCV001547729] |
Chr1:43431169 [GRCh38]
Chr1:43896840 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1626+311C>T |
single nucleotide variant |
not provided [RCV001567217] |
Chr1:43421614 [GRCh38]
Chr1:43887285 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6397-29C>T |
single nucleotide variant |
not provided [RCV001563239] |
Chr1:43437762 [GRCh38]
Chr1:43903433 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.327+258A>C |
single nucleotide variant |
not provided [RCV001549444] |
Chr1:43404032 [GRCh38]
Chr1:43869703 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6646A>C (p.Ser2216Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458076]|not provided [RCV001558277] |
Chr1:43438947 [GRCh38]
Chr1:43904618 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2256-209G>T |
single nucleotide variant |
not provided [RCV001553261] |
Chr1:43424008 [GRCh38]
Chr1:43889679 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2037+100C>G |
single nucleotide variant |
not provided [RCV001576478] |
Chr1:43422983 [GRCh38]
Chr1:43888654 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1626+317C>T |
single nucleotide variant |
not provided [RCV001561112] |
Chr1:43421620 [GRCh38]
Chr1:43887291 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1090+63G>A |
single nucleotide variant |
not provided [RCV001556184] |
Chr1:43420007 [GRCh38]
Chr1:43885678 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5052G>A (p.Thr1684=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458072]|not provided [RCV001547653] |
Chr1:43431487 [GRCh38]
Chr1:43897158 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8533C>T (p.Arg2845Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003242656] |
Chr1:43443385 [GRCh38]
Chr1:43909056 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8419+30A>G |
single nucleotide variant |
not provided [RCV001608279] |
Chr1:43443116 [GRCh38]
Chr1:43908787 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.4113C>G (p.Ser1371Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458078]|Inborn genetic diseases [RCV002573341]|not provided [RCV001593652]|not specified [RCV001815040] |
Chr1:43428433 [GRCh38]
Chr1:43894104 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1922+46G>C |
single nucleotide variant |
not provided [RCV001657287] |
Chr1:43422678 [GRCh38]
Chr1:43888349 [GRCh37]
Chr1:1p34.2 |
benign |
| NC_000001.11:g.43389875A>G |
single nucleotide variant |
not provided [RCV001723003] |
Chr1:43389875 [GRCh38]
Chr1:43855546 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2255+230T>C |
single nucleotide variant |
not provided [RCV001723007] |
Chr1:43423546 [GRCh38]
Chr1:43889217 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2037+48G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001815622]|not provided [RCV001723008] |
Chr1:43422931 [GRCh38]
Chr1:43888602 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1626+172G>A |
single nucleotide variant |
not provided [RCV001723009] |
Chr1:43421475 [GRCh38]
Chr1:43887146 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.6508+122A>G |
single nucleotide variant |
not provided [RCV001723010] |
Chr1:43438024 [GRCh38]
Chr1:43903695 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.7344+225C>T |
single nucleotide variant |
not provided [RCV001639377] |
Chr1:43440811 [GRCh38]
Chr1:43906482 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1627-187_1627-186del |
deletion |
not provided [RCV001580947] |
Chr1:43421896..43421897 [GRCh38]
Chr1:43887567..43887568 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.154-37G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001815603]|not provided [RCV001661089] |
Chr1:43403564 [GRCh38]
Chr1:43869235 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.*242G>A |
single nucleotide variant |
not provided [RCV001619429] |
Chr1:43450722 [GRCh38]
Chr1:43916393 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_015284.3(SZT2):c.4230+4_4230+7dup |
microsatellite |
not provided [RCV001663602] |
Chr1:43430102..43430103 [GRCh38]
Chr1:43895773..43895774 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.-62G>C |
single nucleotide variant |
not provided [RCV001658432] |
Chr1:43389907 [GRCh38]
Chr1:43855578 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.6509-54A>G |
single nucleotide variant |
not provided [RCV001638208] |
Chr1:43438645 [GRCh38]
Chr1:43904316 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.630+293C>G |
single nucleotide variant |
not provided [RCV001596325] |
Chr1:43415506 [GRCh38]
Chr1:43881177 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.28-338C>T |
single nucleotide variant |
not provided [RCV001677361] |
Chr1:43402839 [GRCh38]
Chr1:43868510 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.5873G>A (p.Arg1958Gln) |
single nucleotide variant |
not provided [RCV001036346] |
Chr1:43434454 [GRCh38]
Chr1:43900125 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9715dup (p.Ile3239fs) |
duplication |
not provided [RCV001037168] |
Chr1:43448229..43448230 [GRCh38]
Chr1:43913900..43913901 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4483G>T (p.Asp1495Tyr) |
single nucleotide variant |
not provided [RCV001218503] |
Chr1:43430498 [GRCh38]
Chr1:43896169 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.630+4T>C |
single nucleotide variant |
not provided [RCV001218889] |
Chr1:43415217 [GRCh38]
Chr1:43880888 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1145C>T (p.Ala382Val) |
single nucleotide variant |
not provided [RCV001038839] |
Chr1:43420207 [GRCh38]
Chr1:43885878 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7817G>A (p.Arg2606Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457908]|Inborn genetic diseases [RCV002551431]|not provided [RCV001038887] |
Chr1:43442074 [GRCh38]
Chr1:43907745 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3509G>T (p.Ser1170Ile) |
single nucleotide variant |
not provided [RCV001039454] |
Chr1:43427356 [GRCh38]
Chr1:43893027 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2170C>A (p.Pro724Thr) |
single nucleotide variant |
not provided [RCV001040572] |
Chr1:43423231 [GRCh38]
Chr1:43888902 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6362G>A (p.Arg2121Gln) |
single nucleotide variant |
not provided [RCV001040926] |
Chr1:43437666 [GRCh38]
Chr1:43903337 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1395C>T (p.Gly465=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457911]|Inborn genetic diseases [RCV002391117]|not provided [RCV001040960] |
Chr1:43420882 [GRCh38]
Chr1:43886553 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.2811A>G (p.Gln937=) |
single nucleotide variant |
not provided [RCV001050891] |
Chr1:43425639 [GRCh38]
Chr1:43891310 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5197C>T (p.Arg1733Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457926]|not provided [RCV001051538] |
Chr1:43431824 [GRCh38]
Chr1:43897495 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7846T>G (p.Leu2616Val) |
single nucleotide variant |
not provided [RCV001222638] |
Chr1:43442103 [GRCh38]
Chr1:43907774 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3598+6G>C |
single nucleotide variant |
not provided [RCV001224106] |
Chr1:43427451 [GRCh38]
Chr1:43893122 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1312C>T (p.Arg438Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457961]|Inborn genetic diseases [RCV003373050]|not provided [RCV001220831] |
Chr1:43420799 [GRCh38]
Chr1:43886470 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8826-68G>C |
single nucleotide variant |
not provided [RCV001586368] |
Chr1:43445826 [GRCh38]
Chr1:43911497 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7210+100T>C |
single nucleotide variant |
not provided [RCV001616623] |
Chr1:43440148 [GRCh38]
Chr1:43905819 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.3194G>A (p.Arg1065Gln) |
single nucleotide variant |
SZT2-related condition [RCV003980850]|not provided [RCV001644273] |
Chr1:43426518 [GRCh38]
Chr1:43892189 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.7498G>A (p.Ala2500Thr) |
single nucleotide variant |
not provided [RCV001035318] |
Chr1:43441367 [GRCh38]
Chr1:43907038 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5122G>T (p.Ala1708Ser) |
single nucleotide variant |
not provided [RCV001037906] |
Chr1:43431749 [GRCh38]
Chr1:43897420 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3367C>T (p.Arg1123Cys) |
single nucleotide variant |
not provided [RCV001039221] |
Chr1:43427113 [GRCh38]
Chr1:43892784 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6508+8C>G |
single nucleotide variant |
not provided [RCV001039590] |
Chr1:43437910 [GRCh38]
Chr1:43903581 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5281C>T (p.Arg1761Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457910]|Inborn genetic diseases [RCV002551455]|not provided [RCV001039698] |
Chr1:43432278 [GRCh38]
Chr1:43897949 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8954G>A (p.Arg2985Gln) |
single nucleotide variant |
not provided [RCV001039738] |
Chr1:43446216 [GRCh38]
Chr1:43911887 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2256-27T>G |
single nucleotide variant |
not provided [RCV001588694] |
Chr1:43424190 [GRCh38]
Chr1:43889861 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3425C>T (p.Thr1142Ile) |
single nucleotide variant |
not provided [RCV001040501] |
Chr1:43427171 [GRCh38]
Chr1:43892842 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.253A>T (p.Thr85Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457913]|Inborn genetic diseases [RCV002551506]|not provided [RCV001041957] |
Chr1:43403700 [GRCh38]
Chr1:43869371 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6793-80A>T |
single nucleotide variant |
not provided [RCV001652830] |
Chr1:43439278 [GRCh38]
Chr1:43904949 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.9154C>T (p.Arg3052Cys) |
single nucleotide variant |
not provided [RCV001041961] |
Chr1:43447036 [GRCh38]
Chr1:43912707 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.379C>T (p.Arg127Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457914]|Inborn genetic diseases [RCV002363581]|not provided [RCV001042181] |
Chr1:43404431 [GRCh38]
Chr1:43870102 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3310-3C>G |
single nucleotide variant |
not provided [RCV001042446] |
Chr1:43427053 [GRCh38]
Chr1:43892724 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8711G>C (p.Arg2904Pro) |
single nucleotide variant |
not provided [RCV001043101] |
Chr1:43443682 [GRCh38]
Chr1:43909353 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7210+1G>T |
single nucleotide variant |
not provided [RCV001044207] |
Chr1:43440049 [GRCh38]
Chr1:43905720 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.8593C>T (p.Pro2865Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457921]|Inborn genetic diseases [RCV003283888]|not provided [RCV001044831] |
Chr1:43443445 [GRCh38]
Chr1:43909116 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9172G>A (p.Val3058Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457922]|Inborn genetic diseases [RCV002372788]|not provided [RCV001045319]|not specified [RCV003155344] |
Chr1:43447054 [GRCh38]
Chr1:43912725 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9874C>T (p.Arg3292Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457923]|See cases [RCV001420267]|not provided [RCV001045979] |
Chr1:43448389 [GRCh38]
Chr1:43914060 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4330C>T (p.Arg1444Cys) |
single nucleotide variant |
not provided [RCV001046903] |
Chr1:43430032 [GRCh38]
Chr1:43895703 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3637C>T (p.Arg1213Cys) |
single nucleotide variant |
not provided [RCV001046909] |
Chr1:43427568 [GRCh38]
Chr1:43893239 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5186G>C (p.Ser1729Thr) |
single nucleotide variant |
not provided [RCV001048057] |
Chr1:43431813 [GRCh38]
Chr1:43897484 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8660G>A (p.Arg2887Gln) |
single nucleotide variant |
not provided [RCV001048089] |
Chr1:43443631 [GRCh38]
Chr1:43909302 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6500G>A (p.Gly2167Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003333126]|not provided [RCV001048389] |
Chr1:43437894 [GRCh38]
Chr1:43903565 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5494G>A (p.Val1832Ile) |
single nucleotide variant |
not provided [RCV001049370] |
Chr1:43432568 [GRCh38]
Chr1:43898239 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8627G>A (p.Arg2876Gln) |
single nucleotide variant |
not provided [RCV001049559] |
Chr1:43443598 [GRCh38]
Chr1:43909269 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3964G>A (p.Asp1322Asn) |
single nucleotide variant |
not provided [RCV001049755] |
Chr1:43428284 [GRCh38]
Chr1:43893955 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7642A>G (p.Met2548Val) |
single nucleotide variant |
not provided [RCV001050486] |
Chr1:43441718 [GRCh38]
Chr1:43907389 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5491G>T (p.Gly1831Cys) |
single nucleotide variant |
not provided [RCV001050787] |
Chr1:43432565 [GRCh38]
Chr1:43898236 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001089975] |
Chr1:43432776 [GRCh38]
Chr1:43898447 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6623T>C (p.Val2208Ala) |
single nucleotide variant |
not provided [RCV001051101] |
Chr1:43438813 [GRCh38]
Chr1:43904484 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6759G>T (p.Lys2253Asn) |
single nucleotide variant |
not provided [RCV001052570] |
Chr1:43439060 [GRCh38]
Chr1:43904731 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5804+207G>A |
single nucleotide variant |
not provided [RCV001614859] |
Chr1:43433397 [GRCh38]
Chr1:43899068 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2206C>T (p.Arg736Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457958]|Inborn genetic diseases [RCV002561896]|not provided [RCV001216489] |
Chr1:43423267 [GRCh38]
Chr1:43888938 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10157C>G (p.Ser3386Cys) |
single nucleotide variant |
not provided [RCV001206279] |
Chr1:43450338 [GRCh38]
Chr1:43916009 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7036T>C (p.Ser2346Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457954]|Inborn genetic diseases [RCV003246759]|not provided [RCV001211550] |
Chr1:43439763 [GRCh38]
Chr1:43905434 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6351C>A (p.Leu2117=) |
single nucleotide variant |
not provided [RCV001212573] |
Chr1:43437655 [GRCh38]
Chr1:43903326 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002265929]|Inborn genetic diseases [RCV002372740]|not provided [RCV001035171] |
Chr1:43447646 [GRCh38]
Chr1:43913317 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.671G>A (p.Arg224Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457905]|Inborn genetic diseases [RCV002552092]|not provided [RCV001035548] |
Chr1:43416000 [GRCh38]
Chr1:43881671 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8855T>A (p.Leu2952His) |
single nucleotide variant |
not provided [RCV001227162] |
Chr1:43445923 [GRCh38]
Chr1:43911594 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001535755]|Inborn genetic diseases [RCV003163778]|not provided [RCV001228522] |
Chr1:43448381 [GRCh38]
Chr1:43914052 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.1027C>T (p.Arg343Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457907]|not provided [RCV001037739] |
Chr1:43419881 [GRCh38]
Chr1:43885552 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10031G>A (p.Arg3344His) |
single nucleotide variant |
not provided [RCV001038081] |
Chr1:43448673 [GRCh38]
Chr1:43914344 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9349C>T (p.His3117Tyr) |
single nucleotide variant |
not provided [RCV001229927] |
Chr1:43447607 [GRCh38]
Chr1:43913278 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7925G>A (p.Arg2642Gln) |
single nucleotide variant |
not provided [RCV001230271] |
Chr1:43442319 [GRCh38]
Chr1:43907990 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7873+2T>C |
single nucleotide variant |
not provided [RCV001231255] |
Chr1:43442132 [GRCh38]
Chr1:43907803 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.584A>T (p.Asp195Val) |
single nucleotide variant |
not provided [RCV001237577] |
Chr1:43415167 [GRCh38]
Chr1:43880838 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6291-6T>G |
single nucleotide variant |
not provided [RCV001042916] |
Chr1:43437589 [GRCh38]
Chr1:43903260 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5092C>T (p.Arg1698Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457919]|Inborn genetic diseases [RCV003380811]|not provided [RCV001043492] |
Chr1:43431719 [GRCh38]
Chr1:43897390 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2108C>T (p.Thr703Met) |
single nucleotide variant |
not provided [RCV001043565] |
Chr1:43423169 [GRCh38]
Chr1:43888840 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3605C>T (p.Ala1202Val) |
single nucleotide variant |
not provided [RCV001233359] |
Chr1:43427536 [GRCh38]
Chr1:43893207 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8168T>C (p.Leu2723Pro) |
single nucleotide variant |
not provided [RCV001238136] |
Chr1:43442835 [GRCh38]
Chr1:43908506 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6532G>A (p.Val2178Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457920]|Inborn genetic diseases [RCV003243421]|not provided [RCV001044645] |
Chr1:43438722 [GRCh38]
Chr1:43904393 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His) |
single nucleotide variant |
not provided [RCV001044650] |
Chr1:43447151 [GRCh38]
Chr1:43912822 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.4965_4966delinsGC (p.Ser1656Pro) |
indel |
not provided [RCV001045120] |
Chr1:43431313..43431314 [GRCh38]
Chr1:43896984..43896985 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5960C>T (p.Ala1987Val) |
single nucleotide variant |
not provided [RCV001046812] |
Chr1:43435255 [GRCh38]
Chr1:43900926 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9227G>A (p.Arg3076Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457924]|not provided [RCV001046853] |
Chr1:43447109 [GRCh38]
Chr1:43912780 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.772+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001196708] |
Chr1:43416106 [GRCh38]
Chr1:43881777 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9821G>A (p.Arg3274His) |
single nucleotide variant |
not provided [RCV001049047] |
Chr1:43448336 [GRCh38]
Chr1:43914007 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6574G>A (p.Val2192Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457927]|Inborn genetic diseases [RCV002553751]|not provided [RCV001053202] |
Chr1:43438764 [GRCh38]
Chr1:43904435 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8710del (p.Arg2904fs) |
deletion |
not provided [RCV001202416] |
Chr1:43443679 [GRCh38]
Chr1:43909350 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.6793-3C>T |
single nucleotide variant |
not provided [RCV001206859] |
Chr1:43439355 [GRCh38]
Chr1:43905026 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3238G>T (p.Val1080Phe) |
single nucleotide variant |
not provided [RCV001239139] |
Chr1:43426738 [GRCh38]
Chr1:43892409 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5824_5825delinsTT (p.Gly1942Leu) |
indel |
not provided [RCV001208240] |
Chr1:43434405..43434406 [GRCh38]
Chr1:43900076..43900077 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7297G>A (p.Val2433Met) |
single nucleotide variant |
not provided [RCV001210060] |
Chr1:43440539 [GRCh38]
Chr1:43906210 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3685A>T (p.Ser1229Cys) |
single nucleotide variant |
not provided [RCV001055284] |
Chr1:43427616 [GRCh38]
Chr1:43893287 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2308C>T (p.Pro770Ser) |
single nucleotide variant |
not provided [RCV001240397] |
Chr1:43424269 [GRCh38]
Chr1:43889940 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9038C>A (p.Ser3013Tyr) |
single nucleotide variant |
not provided [RCV001211212] |
Chr1:43446382 [GRCh38]
Chr1:43912053 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8090G>C (p.Ser2697Thr) |
single nucleotide variant |
not provided [RCV001056008] |
Chr1:43442557 [GRCh38]
Chr1:43908228 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7019del (p.Pro2340fs) |
deletion |
not provided [RCV001057693] |
Chr1:43439744 [GRCh38]
Chr1:43905415 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8576C>T (p.Ala2859Val) |
single nucleotide variant |
not provided [RCV001888971] |
Chr1:43443428 [GRCh38]
Chr1:43909099 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8497del (p.Ser2833fs) |
deletion |
not provided [RCV001242092] |
Chr1:43443265 [GRCh38]
Chr1:43908936 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3517C>G (p.Pro1173Ala) |
single nucleotide variant |
not provided [RCV001202375] |
Chr1:43427364 [GRCh38]
Chr1:43893035 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5372A>G (p.His1791Arg) |
single nucleotide variant |
not provided [RCV001215067] |
Chr1:43432369 [GRCh38]
Chr1:43898040 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5761G>A (p.Val1921Ile) |
single nucleotide variant |
not provided [RCV001215444] |
Chr1:43433147 [GRCh38]
Chr1:43898818 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10090G>A (p.Val3364Met) |
single nucleotide variant |
not provided [RCV001059421] |
Chr1:43450106 [GRCh38]
Chr1:43915777 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6463G>A (p.Val2155Met) |
single nucleotide variant |
not provided [RCV001059760] |
Chr1:43437857 [GRCh38]
Chr1:43903528 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5780G>A (p.Arg1927His) |
single nucleotide variant |
not provided [RCV001244689] |
Chr1:43433166 [GRCh38]
Chr1:43898837 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10175G>A (p.Arg3392Gln) |
single nucleotide variant |
not provided [RCV001244874] |
Chr1:43450356 [GRCh38]
Chr1:43916027 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1102C>T (p.Arg368Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003142007]|Inborn genetic diseases [RCV002554455]|not provided [RCV001063314] |
Chr1:43420164 [GRCh38]
Chr1:43885835 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1379A>T (p.Glu460Val) |
single nucleotide variant |
not provided [RCV001205960] |
Chr1:43420866 [GRCh38]
Chr1:43886537 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7345A>G (p.Ser2449Gly) |
single nucleotide variant |
not provided [RCV001065007] |
Chr1:43441214 [GRCh38]
Chr1:43906885 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4606A>G (p.Thr1536Ala) |
single nucleotide variant |
not provided [RCV001065106] |
Chr1:43430621 [GRCh38]
Chr1:43896292 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.196C>G (p.Pro66Ala) |
single nucleotide variant |
not provided [RCV001066028] |
Chr1:43403643 [GRCh38]
Chr1:43869314 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.435C>G (p.Phe145Leu) |
single nucleotide variant |
not provided [RCV001203897] |
Chr1:43404487 [GRCh38]
Chr1:43870158 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6950C>T (p.Ser2317Phe) |
single nucleotide variant |
not provided [RCV001246583] |
Chr1:43439677 [GRCh38]
Chr1:43905348 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001542354]|Inborn genetic diseases [RCV002451285]|not provided [RCV001066370] |
Chr1:43427719 [GRCh38]
Chr1:43893390 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6895C>G (p.Leu2299Val) |
single nucleotide variant |
not provided [RCV001205219] |
Chr1:43439622 [GRCh38]
Chr1:43905293 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8140C>T (p.Arg2714Ter) |
single nucleotide variant |
not provided [RCV001205582] |
Chr1:43442607 [GRCh38]
Chr1:43908278 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7582C>T (p.Arg2528Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001784627]|not provided [RCV001071306] |
Chr1:43441574 [GRCh38]
Chr1:43907245 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8359C>T (p.Pro2787Ser) |
single nucleotide variant |
not provided [RCV001204768] |
Chr1:43443026 [GRCh38]
Chr1:43908697 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7724G>A (p.Arg2575His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457947]|not provided [RCV001203456] |
Chr1:43441800 [GRCh38]
Chr1:43907471 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5261C>A (p.Thr1754Lys) |
single nucleotide variant |
not provided [RCV001204015] |
Chr1:43431888 [GRCh38]
Chr1:43897559 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3346T>G (p.Ser1116Ala) |
single nucleotide variant |
not provided [RCV001219015] |
Chr1:43427092 [GRCh38]
Chr1:43892763 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2256-4C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002447140]|SZT2-related condition [RCV003973149]|not provided [RCV001226928] |
Chr1:43424213 [GRCh38]
Chr1:43889884 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.947T>C (p.Ile316Thr) |
single nucleotide variant |
not provided [RCV001226977] |
Chr1:43419801 [GRCh38]
Chr1:43885472 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8179A>G (p.Met2727Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457978]|Inborn genetic diseases [RCV003284128]|not provided [RCV001247497] |
Chr1:43442846 [GRCh38]
Chr1:43908517 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2837G>T (p.Cys946Phe) |
single nucleotide variant |
not provided [RCV001248298] |
Chr1:43425857 [GRCh38]
Chr1:43891528 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9409_9411del (p.Asn3137del) |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV003457979]|Inborn genetic diseases [RCV002375305]|not provided [RCV001248411] |
Chr1:43447665..43447667 [GRCh38]
Chr1:43913336..43913338 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8571C>A (p.Asp2857Glu) |
single nucleotide variant |
not provided [RCV001248437] |
Chr1:43443423 [GRCh38]
Chr1:43909094 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3851C>T (p.Pro1284Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457963]|Inborn genetic diseases [RCV002451513]|not provided [RCV001221597] |
Chr1:43428050 [GRCh38]
Chr1:43893721 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3809A>G (p.Gln1270Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457964]|not provided [RCV001221629] |
Chr1:43428008 [GRCh38]
Chr1:43893679 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4657A>G (p.Thr1553Ala) |
single nucleotide variant |
not provided [RCV001222833] |
Chr1:43430672 [GRCh38]
Chr1:43896343 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.898T>C (p.Tyr300His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457968]|Inborn genetic diseases [RCV001266885]|not provided [RCV001231825] |
Chr1:43419752 [GRCh38]
Chr1:43885423 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NC_000001.11:g.(?_43389949)_(43450500_?)del |
deletion |
not provided [RCV001031847] |
Chr1:43855620..43916171 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.5692G>A (p.Gly1898Arg) |
single nucleotide variant |
not provided [RCV001036423] |
Chr1:43433078 [GRCh38]
Chr1:43898749 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4414C>T (p.Arg1472Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457909]|not provided [RCV001039145] |
Chr1:43430323 [GRCh38]
Chr1:43895994 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3246G>T (p.Gly1082=) |
single nucleotide variant |
not provided [RCV001221235] |
Chr1:43426746 [GRCh38]
Chr1:43892417 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1898A>T (p.Tyr633Phe) |
single nucleotide variant |
not provided [RCV001221775] |
Chr1:43422608 [GRCh38]
Chr1:43888279 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5088+4A>C |
single nucleotide variant |
not provided [RCV001222389] |
Chr1:43431527 [GRCh38]
Chr1:43897198 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5336T>C (p.Phe1779Ser) |
single nucleotide variant |
not provided [RCV001040789] |
Chr1:43432333 [GRCh38]
Chr1:43898004 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9622G>A (p.Asp3208Asn) |
single nucleotide variant |
not provided [RCV001222664] |
Chr1:43448137 [GRCh38]
Chr1:43913808 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5011C>G (p.Pro1671Ala) |
single nucleotide variant |
not provided [RCV001222831] |
Chr1:43431359 [GRCh38]
Chr1:43897030 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2171C>T (p.Pro724Leu) |
single nucleotide variant |
not provided [RCV001223632] |
Chr1:43423232 [GRCh38]
Chr1:43888903 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9617C>T (p.Thr3206Ile) |
single nucleotide variant |
not provided [RCV001234683] |
Chr1:43448132 [GRCh38]
Chr1:43913803 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7951C>A (p.Leu2651Ile) |
single nucleotide variant |
not provided [RCV001044164] |
Chr1:43442345 [GRCh38]
Chr1:43908016 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.633AGA[1] (p.Glu212del) |
microsatellite |
not provided [RCV001047164] |
Chr1:43415962..43415964 [GRCh38]
Chr1:43881633..43881635 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3235G>T (p.Gly1079Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457930]|not provided [RCV001053704] |
Chr1:43426735 [GRCh38]
Chr1:43892406 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3497T>C (p.Phe1166Ser) |
single nucleotide variant |
not provided [RCV001054249] |
Chr1:43427344 [GRCh38]
Chr1:43893015 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8006A>G (p.Asp2669Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003141988]|not provided [RCV001055835] |
Chr1:43442473 [GRCh38]
Chr1:43908144 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3502G>T (p.Asp1168Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457977]|not provided [RCV001245520] |
Chr1:43427349 [GRCh38]
Chr1:43893020 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6725G>A (p.Arg2242Gln) |
single nucleotide variant |
not provided [RCV001240760] |
Chr1:43439026 [GRCh38]
Chr1:43904697 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8840G>A (p.Arg2947Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003339558]|Inborn genetic diseases [RCV002564028]|not provided [RCV001242430] |
Chr1:43445908 [GRCh38]
Chr1:43911579 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9262T>G (p.Phe3088Val) |
single nucleotide variant |
not provided [RCV001056686] |
Chr1:43447144 [GRCh38]
Chr1:43912815 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8735T>C (p.Leu2912Pro) |
single nucleotide variant |
not provided [RCV001057318] |
Chr1:43443706 [GRCh38]
Chr1:43909377 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4691C>T (p.Pro1564Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457949]|Inborn genetic diseases [RCV003380877]|not provided [RCV001205529] |
Chr1:43430706 [GRCh38]
Chr1:43896377 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2530G>C (p.Val844Leu) |
single nucleotide variant |
not provided [RCV001202153] |
Chr1:43424842 [GRCh38]
Chr1:43890513 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4419C>A (p.Asp1473Glu) |
single nucleotide variant |
not provided [RCV001203135] |
Chr1:43430328 [GRCh38]
Chr1:43895999 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5764C>T (p.Arg1922Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457946]|Inborn genetic diseases [RCV002561125]|not provided [RCV001203300] |
Chr1:43433150 [GRCh38]
Chr1:43898821 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5461C>G (p.Gln1821Glu) |
single nucleotide variant |
not provided [RCV001205305] |
Chr1:43432535 [GRCh38]
Chr1:43898206 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1870T>C (p.Trp624Arg) |
single nucleotide variant |
not provided [RCV001205290] |
Chr1:43422580 [GRCh38]
Chr1:43888251 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2339G>A (p.Arg780His) |
single nucleotide variant |
not provided [RCV001204897] |
Chr1:43424300 [GRCh38]
Chr1:43889971 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9532G>A (p.Glu3178Lys) |
single nucleotide variant |
not provided [RCV001205052] |
Chr1:43447940 [GRCh38]
Chr1:43913611 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10213C>A (p.Pro3405Thr) |
single nucleotide variant |
not provided [RCV001245539] |
Chr1:43450394 [GRCh38]
Chr1:43916065 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3743C>T (p.Ala1248Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457948]|Inborn genetic diseases [RCV002451427]|not provided [RCV001204517] |
Chr1:43427674 [GRCh38]
Chr1:43893345 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3230T>C (p.Leu1077Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457935]|not provided [RCV001061875] |
Chr1:43426730 [GRCh38]
Chr1:43892401 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9398G>T (p.Gly3133Val) |
single nucleotide variant |
not provided [RCV001062648] |
Chr1:43447656 [GRCh38]
Chr1:43913327 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8534G>A (p.Arg2845His) |
single nucleotide variant |
not provided [RCV001062872] |
Chr1:43443386 [GRCh38]
Chr1:43909057 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4999_5000dup (p.Leu1668fs) |
duplication |
not provided [RCV001209741] |
Chr1:43431343..43431344 [GRCh38]
Chr1:43897014..43897015 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3841T>C (p.Trp1281Arg) |
single nucleotide variant |
not provided [RCV001065393] |
Chr1:43428040 [GRCh38]
Chr1:43893711 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.47T>C (p.Val16Ala) |
single nucleotide variant |
not provided [RCV001218923] |
Chr1:43403196 [GRCh38]
Chr1:43868867 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6872G>A (p.Gly2291Asp) |
single nucleotide variant |
not provided [RCV001226538] |
Chr1:43439437 [GRCh38]
Chr1:43905108 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3220G>A (p.Glu1074Lys) |
single nucleotide variant |
not provided [RCV001065955] |
Chr1:43426720 [GRCh38]
Chr1:43892391 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9073-3C>T |
single nucleotide variant |
not provided [RCV001067719] |
Chr1:43446952 [GRCh38]
Chr1:43912623 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2813C>T (p.Ala938Val) |
single nucleotide variant |
not provided [RCV001068621] |
Chr1:43425641 [GRCh38]
Chr1:43891312 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3532C>G (p.Leu1178Val) |
single nucleotide variant |
not provided [RCV001215095] |
Chr1:43427379 [GRCh38]
Chr1:43893050 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5146C>T (p.Gln1716Ter) |
single nucleotide variant |
not provided [RCV001069079] |
Chr1:43431773 [GRCh38]
Chr1:43897444 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9637C>T (p.Arg3213Trp) |
single nucleotide variant |
not provided [RCV001231523] |
Chr1:43448152 [GRCh38]
Chr1:43913823 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5C>T (p.Ala2Val) |
single nucleotide variant |
not provided [RCV001219960] |
Chr1:43389973 [GRCh38]
Chr1:43855644 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9187C>G (p.Leu3063Val) |
single nucleotide variant |
not provided [RCV001229271] |
Chr1:43447069 [GRCh38]
Chr1:43912740 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8696C>T (p.Ser2899Leu) |
single nucleotide variant |
not provided [RCV001220832] |
Chr1:43443667 [GRCh38]
Chr1:43909338 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1948T>A (p.Phe650Ile) |
single nucleotide variant |
not provided [RCV001221160] |
Chr1:43422794 [GRCh38]
Chr1:43888465 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6769A>G (p.Ser2257Gly) |
single nucleotide variant |
not provided [RCV001209743] |
Chr1:43439070 [GRCh38]
Chr1:43904741 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10262A>G (p.Asn3421Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457980]|Inborn genetic diseases [RCV002436975]|Seizure [RCV001254982]|not provided [RCV001304444] |
Chr1:43450443 [GRCh38]
Chr1:43916114 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2435_2436del (p.Leu812fs) |
microsatellite |
Inborn genetic diseases [RCV001267054] |
Chr1:43424393..43424394 [GRCh38]
Chr1:43890064..43890065 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4309-64G>A |
single nucleotide variant |
not provided [RCV001641907] |
Chr1:43429947 [GRCh38]
Chr1:43895618 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2170C>T (p.Pro724Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002545590]|not provided [RCV001348481] |
Chr1:43423231 [GRCh38]
Chr1:43888902 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.9160G>A (p.Val3054Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001332049]|not provided [RCV001871829] |
Chr1:43447042 [GRCh38]
Chr1:43912713 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1678G>T (p.Ala560Ser) |
single nucleotide variant |
Seizure [RCV001255026] |
Chr1:43422134 [GRCh38]
Chr1:43887805 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2825G>T (p.Arg942Leu) |
single nucleotide variant |
not provided [RCV001324558] |
Chr1:43425845 [GRCh38]
Chr1:43891516 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5498C>T (p.Pro1833Leu) |
single nucleotide variant |
not provided [RCV001324470] |
Chr1:43432572 [GRCh38]
Chr1:43898243 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6737T>C (p.Leu2246Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457981]|Inborn genetic diseases [RCV001267055]|not provided [RCV001347488] |
Chr1:43439038 [GRCh38]
Chr1:43904709 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7765G>A (p.Gly2589Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457998]|not provided [RCV001310850] |
Chr1:43442022 [GRCh38]
Chr1:43907693 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6878-5C>G |
single nucleotide variant |
not provided [RCV001312988] |
Chr1:43439600 [GRCh38]
Chr1:43905271 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3916C>G (p.Arg1306Gly) |
single nucleotide variant |
not provided [RCV001303881] |
Chr1:43428115 [GRCh38]
Chr1:43893786 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5621G>A (p.Ser1874Asn) |
single nucleotide variant |
not provided [RCV001304049] |
Chr1:43433007 [GRCh38]
Chr1:43898678 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8062C>T (p.Arg2688Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV001266884] |
Chr1:43442529 [GRCh38]
Chr1:43908200 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3228_3229insT (p.Leu1077fs) |
insertion |
not provided [RCV001268281] |
Chr1:43426728..43426729 [GRCh38]
Chr1:43892399..43892400 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.6250_6253del (p.Val2084fs) |
microsatellite |
not provided [RCV001268282] |
Chr1:43437463..43437466 [GRCh38]
Chr1:43903134..43903137 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.841del (p.Gln281fs) |
deletion |
not provided [RCV001268452] |
Chr1:43416602 [GRCh38]
Chr1:43882273 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3706C>T (p.Arg1236Trp) |
single nucleotide variant |
not provided [RCV001312510] |
Chr1:43427637 [GRCh38]
Chr1:43893308 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1086C>G (p.Tyr362Ter) |
single nucleotide variant |
not provided [RCV001870613] |
Chr1:43419940 [GRCh38]
Chr1:43885611 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3871_3887del (p.Asn1291fs) |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV001292584] |
Chr1:43428067..43428083 [GRCh38]
Chr1:43893738..43893754 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.2646-7C>A |
single nucleotide variant |
not provided [RCV002001504] |
Chr1:43425467 [GRCh38]
Chr1:43891138 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3044-55G>A |
single nucleotide variant |
not provided [RCV001565532] |
Chr1:43426313 [GRCh38]
Chr1:43891984 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3352C>G (p.Gln1118Glu) |
single nucleotide variant |
not provided [RCV001295353] |
Chr1:43427098 [GRCh38]
Chr1:43892769 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4171G>A (p.Glu1391Lys) |
single nucleotide variant |
not provided [RCV001301103] |
Chr1:43429707 [GRCh38]
Chr1:43895378 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1790A>G (p.His597Arg) |
single nucleotide variant |
not provided [RCV001300313] |
Chr1:43422500 [GRCh38]
Chr1:43888171 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.*944_*947del |
deletion |
Early infantile epileptic encephalopathy 18 [RCV001335723] |
Chr1:43451422..43451425 [GRCh38]
Chr1:43917093..43917096 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9760G>A (p.Glu3254Lys) |
single nucleotide variant |
not provided [RCV001295597] |
Chr1:43448275 [GRCh38]
Chr1:43913946 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10155+5G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335734]|not provided [RCV001865835] |
Chr1:43450176 [GRCh38]
Chr1:43915847 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2371C>T (p.Arg791Cys) |
single nucleotide variant |
not provided [RCV001327002] |
Chr1:43424332 [GRCh38]
Chr1:43890003 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5426A>G (p.Glu1809Gly) |
single nucleotide variant |
not provided [RCV001308229] |
Chr1:43432423 [GRCh38]
Chr1:43898094 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9287-10T>G |
single nucleotide variant |
not provided [RCV001304928] |
Chr1:43447535 [GRCh38]
Chr1:43913206 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3833C>A (p.Ser1278Tyr) |
single nucleotide variant |
not provided [RCV001325568] |
Chr1:43428032 [GRCh38]
Chr1:43893703 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8989G>A (p.Ala2997Thr) |
single nucleotide variant |
not provided [RCV001314266] |
Chr1:43446251 [GRCh38]
Chr1:43911922 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6916G>C (p.Gly2306Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458023]|Inborn genetic diseases [RCV003246920]|not provided [RCV001350665] |
Chr1:43439643 [GRCh38]
Chr1:43905314 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2156C>G (p.Ser719Cys) |
single nucleotide variant |
not provided [RCV001317493] |
Chr1:43423217 [GRCh38]
Chr1:43888888 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6395C>T (p.Ser2132Leu) |
single nucleotide variant |
not provided [RCV001341326] |
Chr1:43437699 [GRCh38]
Chr1:43903370 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9573C>G (p.Phe3191Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458014]|Inborn genetic diseases [RCV002377448]|not provided [RCV001341454] |
Chr1:43448088 [GRCh38]
Chr1:43913759 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2074C>T (p.Arg692Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458024]|Inborn genetic diseases [RCV002420760]|not provided [RCV001350764] |
Chr1:43423135 [GRCh38]
Chr1:43888806 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3943G>A (p.Ala1315Thr) |
single nucleotide variant |
not provided [RCV001314456] |
Chr1:43428263 [GRCh38]
Chr1:43893934 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5815C>G (p.Arg1939Gly) |
single nucleotide variant |
not provided [RCV001299126] |
Chr1:43434396 [GRCh38]
Chr1:43900067 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3243T>C (p.His1081=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457982]|not provided [RCV001288852] |
Chr1:43426743 [GRCh38]
Chr1:43892414 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7453C>T (p.Arg2485Trp) |
single nucleotide variant |
not provided [RCV001305119] |
Chr1:43441322 [GRCh38]
Chr1:43906993 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9185A>G (p.His3062Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335732]|not provided [RCV001351221] |
Chr1:43447067 [GRCh38]
Chr1:43912738 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1843T>A (p.Ser615Thr) |
single nucleotide variant |
not provided [RCV001298357] |
Chr1:43422553 [GRCh38]
Chr1:43888224 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6316C>T (p.Arg2106Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457988]|not provided [RCV001300959] |
Chr1:43437620 [GRCh38]
Chr1:43903291 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6957G>A (p.Pro2319=) |
single nucleotide variant |
not provided [RCV001300962] |
Chr1:43439684 [GRCh38]
Chr1:43905355 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4805C>G (p.Pro1602Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457989]|Inborn genetic diseases [RCV002327651]|not provided [RCV001300987] |
Chr1:43430979 [GRCh38]
Chr1:43896650 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5642C>T (p.Pro1881Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458007]|not provided [RCV001320581] |
Chr1:43433028 [GRCh38]
Chr1:43898699 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1472G>A (p.Arg491Gln) |
single nucleotide variant |
not provided [RCV001341713] |
Chr1:43420959 [GRCh38]
Chr1:43886630 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.46G>A (p.Val16Met) |
single nucleotide variant |
not provided [RCV001296103] |
Chr1:43403195 [GRCh38]
Chr1:43868866 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3531T>A (p.Asp1177Glu) |
single nucleotide variant |
not provided [RCV001338822] |
Chr1:43427378 [GRCh38]
Chr1:43893049 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1313G>A (p.Arg438His) |
single nucleotide variant |
not provided [RCV001303234] |
Chr1:43420800 [GRCh38]
Chr1:43886471 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.245T>C (p.Val82Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457999]|Inborn genetic diseases [RCV002543595]|not provided [RCV001312368] |
Chr1:43403692 [GRCh38]
Chr1:43869363 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002227519]|not provided [RCV001339467] |
Chr1:43441506 [GRCh38]
Chr1:43907177 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7162G>A (p.Glu2388Lys) |
single nucleotide variant |
not provided [RCV001339554] |
Chr1:43440000 [GRCh38]
Chr1:43905671 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NC_000001.10:g.(?_43868828)_(43870241_?)del |
deletion |
not provided [RCV001296324] |
Chr1:43868828..43870241 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1396G>A (p.Gly466Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458002]|Inborn genetic diseases [RCV002545078]|not provided [RCV001315016] |
Chr1:43420883 [GRCh38]
Chr1:43886554 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.758C>T (p.Ser253Leu) |
single nucleotide variant |
not provided [RCV001342879] |
Chr1:43416087 [GRCh38]
Chr1:43881758 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3950G>A (p.Ser1317Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457986]|Inborn genetic diseases [RCV002541879]|not provided [RCV001298977] |
Chr1:43428270 [GRCh38]
Chr1:43893941 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.526C>G (p.Pro176Ala) |
single nucleotide variant |
not provided [RCV001296483] |
Chr1:43415109 [GRCh38]
Chr1:43880780 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9481G>A (p.Asp3161Asn) |
single nucleotide variant |
not provided [RCV001340487] |
Chr1:43447889 [GRCh38]
Chr1:43913560 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8692G>A (p.Val2898Met) |
single nucleotide variant |
not provided [RCV001305679] |
Chr1:43443663 [GRCh38]
Chr1:43909334 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3683A>G (p.Glu1228Gly) |
single nucleotide variant |
not provided [RCV001317754] |
Chr1:43427614 [GRCh38]
Chr1:43893285 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5125C>G (p.Leu1709Val) |
single nucleotide variant |
not provided [RCV001320297] |
Chr1:43431752 [GRCh38]
Chr1:43897423 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8800C>G (p.Leu2934Val) |
single nucleotide variant |
not provided [RCV001304227] |
Chr1:43443771 [GRCh38]
Chr1:43909442 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6075G>A (p.Leu2025=) |
single nucleotide variant |
not provided [RCV001349632] |
Chr1:43437211 [GRCh38]
Chr1:43902882 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.574C>T (p.Leu192Phe) |
single nucleotide variant |
not provided [RCV001294661] |
Chr1:43415157 [GRCh38]
Chr1:43880828 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9628C>T (p.Arg3210Cys) |
single nucleotide variant |
not provided [RCV001302513] |
Chr1:43448143 [GRCh38]
Chr1:43913814 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8636G>A (p.Arg2879His) |
single nucleotide variant |
not provided [RCV001348887] |
Chr1:43443607 [GRCh38]
Chr1:43909278 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7016G>C (p.Cys2339Ser) |
single nucleotide variant |
not provided [RCV001312577] |
Chr1:43439743 [GRCh38]
Chr1:43905414 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8023G>A (p.Gly2675Ser) |
single nucleotide variant |
not provided [RCV001348646] |
Chr1:43442490 [GRCh38]
Chr1:43908161 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1039C>T (p.Leu347Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458004]|Inborn genetic diseases [RCV002395687]|not provided [RCV001318662] |
Chr1:43419893 [GRCh38]
Chr1:43885564 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7364A>G (p.Asp2455Gly) |
single nucleotide variant |
not provided [RCV001349653] |
Chr1:43441233 [GRCh38]
Chr1:43906904 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7570C>T (p.Arg2524Cys) |
single nucleotide variant |
not provided [RCV001294724] |
Chr1:43441562 [GRCh38]
Chr1:43907233 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10216C>T (p.Pro3406Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001535708]|not provided [RCV001305976] |
Chr1:43450397 [GRCh38]
Chr1:43916068 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.3802C>T (p.Arg1268Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458003]|not provided [RCV001315083] |
Chr1:43427733 [GRCh38]
Chr1:43893404 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6425C>T (p.Ser2142Phe) |
single nucleotide variant |
not provided [RCV001343336] |
Chr1:43437819 [GRCh38]
Chr1:43903490 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9820C>T (p.Arg3274Cys) |
single nucleotide variant |
not provided [RCV001324835] |
Chr1:43448335 [GRCh38]
Chr1:43914006 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7037C>G (p.Ser2346Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457996]|Inborn genetic diseases [RCV002375389]|not provided [RCV001309041] |
Chr1:43439764 [GRCh38]
Chr1:43905435 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9556G>A (p.Val3186Ile) |
single nucleotide variant |
not provided [RCV001300298] |
Chr1:43447964 [GRCh38]
Chr1:43913635 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5845C>G (p.Arg1949Gly) |
single nucleotide variant |
not provided [RCV001318865] |
Chr1:43434426 [GRCh38]
Chr1:43900097 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2255+9A>G |
single nucleotide variant |
not provided [RCV001340974] |
Chr1:43423325 [GRCh38]
Chr1:43888996 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5396G>A (p.Trp1799Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330842] |
Chr1:43432393 [GRCh38]
Chr1:43898064 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.4136G>C (p.Arg1379Pro) |
single nucleotide variant |
not provided [RCV001342816] |
Chr1:43428456 [GRCh38]
Chr1:43894127 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7785A>G (p.Gln2595=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458009]|not provided [RCV001321795] |
Chr1:43442042 [GRCh38]
Chr1:43907713 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7067G>A (p.Arg2356Gln) |
single nucleotide variant |
not provided [RCV001343863] |
Chr1:43439905 [GRCh38]
Chr1:43905576 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8315C>T (p.Thr2772Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335731]|not provided [RCV001344093] |
Chr1:43442982 [GRCh38]
Chr1:43908653 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1864C>T (p.Arg622Trp) |
single nucleotide variant |
not provided [RCV001306484] |
Chr1:43422574 [GRCh38]
Chr1:43888245 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1475G>A (p.Arg492His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458005]|Inborn genetic diseases [RCV002395690]|not provided [RCV001319258] |
Chr1:43420962 [GRCh38]
Chr1:43886633 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.406T>C (p.Phe136Leu) |
single nucleotide variant |
not provided [RCV001315473] |
Chr1:43404458 [GRCh38]
Chr1:43870129 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5983C>T (p.Arg1995Cys) |
single nucleotide variant |
not provided [RCV001305215] |
Chr1:43435278 [GRCh38]
Chr1:43900949 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5129G>A (p.Arg1710Gln) |
single nucleotide variant |
not provided [RCV001306595] |
Chr1:43431756 [GRCh38]
Chr1:43897427 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6065G>A (p.Arg2022His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457987]|Inborn genetic diseases [RCV002541937]|not provided [RCV001300870] |
Chr1:43437201 [GRCh38]
Chr1:43902872 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4707C>T (p.Leu1569=) |
single nucleotide variant |
not provided [RCV001396497] |
Chr1:43430722 [GRCh38]
Chr1:43896393 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5024+7C>T |
single nucleotide variant |
not provided [RCV001423203] |
Chr1:43431379 [GRCh38]
Chr1:43897050 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2610C>T (p.Ile870=) |
single nucleotide variant |
not provided [RCV001396566] |
Chr1:43425172 [GRCh38]
Chr1:43890843 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9886G>A (p.Gly3296Arg) |
single nucleotide variant |
not provided [RCV001315819] |
Chr1:43448401 [GRCh38]
Chr1:43914072 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7475G>A (p.Arg2492Gln) |
single nucleotide variant |
not provided [RCV001368070] |
Chr1:43441344 [GRCh38]
Chr1:43907015 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5615G>A (p.Gly1872Asp) |
single nucleotide variant |
not provided [RCV001374114] |
Chr1:43433001 [GRCh38]
Chr1:43898672 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9796G>T (p.Val3266Leu) |
single nucleotide variant |
not provided [RCV001314429] |
Chr1:43448311 [GRCh38]
Chr1:43913982 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6694C>T (p.Pro2232Ser) |
single nucleotide variant |
not provided [RCV001369210] |
Chr1:43438995 [GRCh38]
Chr1:43904666 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5212C>T (p.Arg1738Cys) |
single nucleotide variant |
not provided [RCV001372686] |
Chr1:43431839 [GRCh38]
Chr1:43897510 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NC_000001.10:g.(?_43392692)_(43870241_?)del |
deletion |
not provided [RCV001382501] |
Chr1:43392692..43870241 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.832C>T (p.Leu278=) |
single nucleotide variant |
not provided [RCV001392178] |
Chr1:43416594 [GRCh38]
Chr1:43882265 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9081G>A (p.Met3027Ile) |
single nucleotide variant |
not provided [RCV001368619] |
Chr1:43446963 [GRCh38]
Chr1:43912634 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9123C>T (p.His3041=) |
single nucleotide variant |
not provided [RCV001413336] |
Chr1:43447005 [GRCh38]
Chr1:43912676 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3691G>T (p.Asp1231Tyr) |
single nucleotide variant |
not provided [RCV001316645] |
Chr1:43427622 [GRCh38]
Chr1:43893293 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2929+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001292587]|not provided [RCV002541813] |
Chr1:43425950 [GRCh38]
Chr1:43891621 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.5987G>T (p.Ser1996Ile) |
single nucleotide variant |
not provided [RCV001307700] |
Chr1:43435282 [GRCh38]
Chr1:43900953 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1610C>T (p.Pro537Leu) |
single nucleotide variant |
not provided [RCV001359772] |
Chr1:43421287 [GRCh38]
Chr1:43886958 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.851G>T (p.Ser284Ile) |
single nucleotide variant |
not provided [RCV001359799] |
Chr1:43416613 [GRCh38]
Chr1:43882284 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5848C>T (p.His1950Tyr) |
single nucleotide variant |
not provided [RCV001359921] |
Chr1:43434429 [GRCh38]
Chr1:43900100 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9330A>G (p.Leu3110=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458036]|Inborn genetic diseases [RCV002377599]|not provided [RCV001397450] |
Chr1:43447588 [GRCh38]
Chr1:43913259 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5380C>T (p.Pro1794Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458025]|Inborn genetic diseases [RCV002341748]|not provided [RCV001359381] |
Chr1:43432377 [GRCh38]
Chr1:43898048 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9819C>T (p.Cys3273=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001332050] |
Chr1:43448334 [GRCh38]
Chr1:43914005 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.427A>G (p.Ile143Val) |
single nucleotide variant |
not provided [RCV001348514] |
Chr1:43404479 [GRCh38]
Chr1:43870150 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7432C>T (p.Arg2478Cys) |
single nucleotide variant |
not provided [RCV001360293] |
Chr1:43441301 [GRCh38]
Chr1:43906972 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5708A>T (p.Gln1903Leu) |
single nucleotide variant |
not provided [RCV001362497] |
Chr1:43433094 [GRCh38]
Chr1:43898765 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7994A>G (p.Asn2665Ser) |
single nucleotide variant |
not provided [RCV001312738] |
Chr1:43442461 [GRCh38]
Chr1:43908132 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7373C>G (p.Ser2458Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458021]|Inborn genetic diseases [RCV002377480]|not provided [RCV001348696] |
Chr1:43441242 [GRCh38]
Chr1:43906913 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5695C>G (p.Pro1899Ala) |
single nucleotide variant |
not provided [RCV001351449] |
Chr1:43433081 [GRCh38]
Chr1:43898752 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5525A>G (p.Gln1842Arg) |
single nucleotide variant |
not provided [RCV001373473] |
Chr1:43432599 [GRCh38]
Chr1:43898270 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10037C>A (p.Pro3346His) |
single nucleotide variant |
not provided [RCV001337270] |
Chr1:43448679 [GRCh38]
Chr1:43914350 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4549C>G (p.Arg1517Gly) |
single nucleotide variant |
not provided [RCV001315174] |
Chr1:43430564 [GRCh38]
Chr1:43896235 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.640C>G (p.Gln214Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330846]|not provided [RCV002546417] |
Chr1:43415969 [GRCh38]
Chr1:43881640 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5429G>A (p.Gly1810Asp) |
single nucleotide variant |
not provided [RCV001304547] |
Chr1:43432426 [GRCh38]
Chr1:43898097 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1994G>A (p.Arg665His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330838]|not provided [RCV001312483] |
Chr1:43422840 [GRCh38]
Chr1:43888511 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7678G>A (p.Glu2560Lys) |
single nucleotide variant |
not provided [RCV001361943] |
Chr1:43441754 [GRCh38]
Chr1:43907425 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8822G>A (p.Arg2941His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458027]|Inborn genetic diseases [RCV002547800]|not provided [RCV001362742] |
Chr1:43443793 [GRCh38]
Chr1:43909464 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6849G>A (p.Lys2283=) |
single nucleotide variant |
not provided [RCV001414893] |
Chr1:43439414 [GRCh38]
Chr1:43905085 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.238C>T (p.Leu80Phe) |
single nucleotide variant |
not provided [RCV001313035] |
Chr1:43403685 [GRCh38]
Chr1:43869356 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2192A>C (p.Gln731Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457984]|Inborn genetic diseases [RCV002430079]|not provided [RCV001295094] |
Chr1:43423253 [GRCh38]
Chr1:43888924 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10005G>C (p.Gln3335His) |
single nucleotide variant |
not provided [RCV001371985] |
Chr1:43448647 [GRCh38]
Chr1:43914318 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.391G>T (p.Gly131Trp) |
single nucleotide variant |
not provided [RCV001373898] |
Chr1:43404443 [GRCh38]
Chr1:43870114 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1882G>A (p.Val628Ile) |
single nucleotide variant |
not provided [RCV001322801] |
Chr1:43422592 [GRCh38]
Chr1:43888263 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7596T>G (p.Phe2532Leu) |
single nucleotide variant |
not provided [RCV001346387] |
Chr1:43441588 [GRCh38]
Chr1:43907259 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2107A>C (p.Thr703Pro) |
single nucleotide variant |
not provided [RCV001373496] |
Chr1:43423168 [GRCh38]
Chr1:43888839 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5078C>T (p.Thr1693Ile) |
single nucleotide variant |
not provided [RCV001362611] |
Chr1:43431513 [GRCh38]
Chr1:43897184 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10036C>G (p.Pro3346Ala) |
single nucleotide variant |
not provided [RCV001364730] |
Chr1:43448678 [GRCh38]
Chr1:43914349 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6825C>G (p.Asp2275Glu) |
single nucleotide variant |
not provided [RCV001317618] |
Chr1:43439390 [GRCh38]
Chr1:43905061 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7459C>G (p.Pro2487Ala) |
single nucleotide variant |
not provided [RCV001319952] |
Chr1:43441328 [GRCh38]
Chr1:43906999 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5846G>A (p.Arg1949His) |
single nucleotide variant |
not provided [RCV001321530] |
Chr1:43434427 [GRCh38]
Chr1:43900098 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7136G>A (p.Arg2379His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458018]|Inborn genetic diseases [RCV002547016]|not provided [RCV001344723] |
Chr1:43439974 [GRCh38]
Chr1:43905645 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.169G>A (p.Glu57Lys) |
single nucleotide variant |
not provided [RCV001322854] |
Chr1:43403616 [GRCh38]
Chr1:43869287 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.283C>T (p.Arg95Trp) |
single nucleotide variant |
not provided [RCV001345700] |
Chr1:43403730 [GRCh38]
Chr1:43869401 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3295G>T (p.Ala1099Ser) |
single nucleotide variant |
not provided [RCV001323882] |
Chr1:43426795 [GRCh38]
Chr1:43892466 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8866G>A (p.Gly2956Ser) |
single nucleotide variant |
not provided [RCV001368965] |
Chr1:43445934 [GRCh38]
Chr1:43911605 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.455C>A (p.Thr152Asn) |
single nucleotide variant |
not provided [RCV001369074] |
Chr1:43404507 [GRCh38]
Chr1:43870178 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5331CTT[2] (p.Phe1780del) |
microsatellite |
Developmental and epileptic encephalopathy, 18 [RCV003458029]|Inborn genetic diseases [RCV002548566]|not provided [RCV001364852] |
Chr1:43432328..43432330 [GRCh38]
Chr1:43897999..43898001 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2471+4T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003987827]|not provided [RCV001303368] |
Chr1:43424436 [GRCh38]
Chr1:43890107 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.7918T>A (p.Ser2640Thr) |
single nucleotide variant |
not provided [RCV001297870] |
Chr1:43442312 [GRCh38]
Chr1:43907983 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5765G>C (p.Arg1922Pro) |
single nucleotide variant |
not provided [RCV001339810] |
Chr1:43433151 [GRCh38]
Chr1:43898822 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8500-6C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446693]|Inborn genetic diseases [RCV002541911]|not provided [RCV001299982] |
Chr1:43443346 [GRCh38]
Chr1:43909017 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1313G>T (p.Arg438Leu) |
single nucleotide variant |
not provided [RCV001318581] |
Chr1:43420800 [GRCh38]
Chr1:43886471 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3862G>C (p.Glu1288Gln) |
single nucleotide variant |
not provided [RCV001343663] |
Chr1:43428061 [GRCh38]
Chr1:43893732 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.986C>A (p.Pro329His) |
single nucleotide variant |
not provided [RCV001321686] |
Chr1:43419840 [GRCh38]
Chr1:43885511 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4136G>A (p.Arg1379Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003490189]|not provided [RCV001322908] |
Chr1:43428456 [GRCh38]
Chr1:43894127 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6282_6284del (p.Tyr2095del) |
deletion |
not provided [RCV001362903] |
Chr1:43437498..43437500 [GRCh38]
Chr1:43903169..43903171 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10240C>T (p.His3414Tyr) |
single nucleotide variant |
not provided [RCV001364871] |
Chr1:43450421 [GRCh38]
Chr1:43916092 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1613G>C (p.Gly538Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458030]|not provided [RCV001364942] |
Chr1:43421290 [GRCh38]
Chr1:43886961 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_001365999.1(SZT2):c.8397G>C (p.Glu2799Asp) |
single nucleotide variant |
not provided [RCV001318687] |
Chr1:43443064 [GRCh38]
Chr1:43908735 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4300G>A (p.Val1434Ile) |
single nucleotide variant |
not provided [RCV001359030] |
Chr1:43429836 [GRCh38]
Chr1:43895507 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6046G>T (p.Asp2016Tyr) |
single nucleotide variant |
not provided [RCV001295991] |
Chr1:43437182 [GRCh38]
Chr1:43902853 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2281C>T (p.Arg761Trp) |
single nucleotide variant |
not provided [RCV001307463] |
Chr1:43424242 [GRCh38]
Chr1:43889913 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9928G>A (p.Ala3310Thr) |
single nucleotide variant |
not provided [RCV001308723] |
Chr1:43448443 [GRCh38]
Chr1:43914114 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9731C>T (p.Pro3244Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002486150]|not provided [RCV001299227] |
Chr1:43448246 [GRCh38]
Chr1:43913917 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1888G>C (p.Val630Leu) |
single nucleotide variant |
not provided [RCV001340787] |
Chr1:43422598 [GRCh38]
Chr1:43888269 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10029C>A (p.Ser3343Arg) |
single nucleotide variant |
not provided [RCV001318771] |
Chr1:43448671 [GRCh38]
Chr1:43914342 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.145G>A (p.Glu49Lys) |
single nucleotide variant |
not provided [RCV001342206] |
Chr1:43403294 [GRCh38]
Chr1:43868965 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8953C>T (p.Arg2985Trp) |
single nucleotide variant |
not provided [RCV001301698] |
Chr1:43446215 [GRCh38]
Chr1:43911886 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2988G>T (p.Met996Ile) |
single nucleotide variant |
not provided [RCV001343869] |
Chr1:43426096 [GRCh38]
Chr1:43891767 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.769G>A (p.Ala257Thr) |
single nucleotide variant |
not provided [RCV001346722] |
Chr1:43416098 [GRCh38]
Chr1:43881769 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4390A>G (p.Ser1464Gly) |
single nucleotide variant |
not provided [RCV001296096] |
Chr1:43430092 [GRCh38]
Chr1:43895763 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9007T>C (p.Phe3003Leu) |
single nucleotide variant |
not provided [RCV001297254] |
Chr1:43446351 [GRCh38]
Chr1:43912022 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3803G>A (p.Arg1268Gln) |
single nucleotide variant |
not provided [RCV001326676] |
Chr1:43427734 [GRCh38]
Chr1:43893405 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7813G>A (p.Glu2605Lys) |
single nucleotide variant |
not provided [RCV001323060] |
Chr1:43442070 [GRCh38]
Chr1:43907741 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2608A>G (p.Ile870Val) |
single nucleotide variant |
not provided [RCV001323087] |
Chr1:43425170 [GRCh38]
Chr1:43890841 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8179A>C (p.Met2727Leu) |
single nucleotide variant |
not provided [RCV001344988] |
Chr1:43442846 [GRCh38]
Chr1:43908517 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4168A>G (p.Ile1390Val) |
single nucleotide variant |
not provided [RCV001346949] |
Chr1:43429704 [GRCh38]
Chr1:43895375 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7124G>A (p.Arg2375Gln) |
single nucleotide variant |
not provided [RCV001370490] |
Chr1:43439962 [GRCh38]
Chr1:43905633 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.630+4T>G |
single nucleotide variant |
not provided [RCV001365231] |
Chr1:43415217 [GRCh38]
Chr1:43880888 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8678G>A (p.Cys2893Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458012]|Inborn genetic diseases [RCV002412047]|not provided [RCV001326698] |
Chr1:43443649 [GRCh38]
Chr1:43909320 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8941T>A (p.Tyr2981Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457997]|not provided [RCV001309882] |
Chr1:43446203 [GRCh38]
Chr1:43911874 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9631C>T (p.Arg3211Cys) |
single nucleotide variant |
not provided [RCV001301853] |
Chr1:43448146 [GRCh38]
Chr1:43913817 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7775C>T (p.Ser2592Phe) |
single nucleotide variant |
not provided [RCV001345049] |
Chr1:43442032 [GRCh38]
Chr1:43907703 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7974+5A>G |
single nucleotide variant |
not provided [RCV001347056] |
Chr1:43442373 [GRCh38]
Chr1:43908044 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6736C>T (p.Leu2246Phe) |
single nucleotide variant |
not provided [RCV001372213] |
Chr1:43439037 [GRCh38]
Chr1:43904708 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5149A>G (p.Ser1717Gly) |
single nucleotide variant |
not provided [RCV001367598] |
Chr1:43431776 [GRCh38]
Chr1:43897447 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6527A>G (p.Glu2176Gly) |
single nucleotide variant |
not provided [RCV001363070] |
Chr1:43438717 [GRCh38]
Chr1:43904388 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.816T>G (p.Val272=) |
single nucleotide variant |
not provided [RCV001310849] |
Chr1:43416578 [GRCh38]
Chr1:43882249 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3596G>A (p.Ser1199Asn) |
single nucleotide variant |
not provided [RCV001315959] |
Chr1:43427443 [GRCh38]
Chr1:43893114 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4570G>A (p.Ala1524Thr) |
single nucleotide variant |
not provided [RCV001352349] |
Chr1:43430585 [GRCh38]
Chr1:43896256 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6661G>A (p.Val2221Met) |
single nucleotide variant |
not provided [RCV001307694] |
Chr1:43438962 [GRCh38]
Chr1:43904633 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4188C>T (p.Ser1396=) |
single nucleotide variant |
not provided [RCV001345098] |
Chr1:43429724 [GRCh38]
Chr1:43895395 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.134C>G (p.Ala45Gly) |
single nucleotide variant |
not provided [RCV001346093] |
Chr1:43403283 [GRCh38]
Chr1:43868954 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5185A>G (p.Ser1729Gly) |
single nucleotide variant |
not provided [RCV001346119] |
Chr1:43431812 [GRCh38]
Chr1:43897483 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7024G>A (p.Val2342Ile) |
single nucleotide variant |
not provided [RCV001324273] |
Chr1:43439751 [GRCh38]
Chr1:43905422 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9413A>G (p.Glu3138Gly) |
single nucleotide variant |
not provided [RCV001347105] |
Chr1:43447671 [GRCh38]
Chr1:43913342 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.403C>T (p.Pro135Ser) |
single nucleotide variant |
not provided [RCV001372364] |
Chr1:43404455 [GRCh38]
Chr1:43870126 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7267T>C (p.Phe2423Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458031]|Inborn genetic diseases [RCV002368191]|not provided [RCV001368692] |
Chr1:43440509 [GRCh38]
Chr1:43906180 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7996T>G (p.Trp2666Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001292591] |
Chr1:43442463 [GRCh38]
Chr1:43908134 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9562C>T (p.Arg3188Trp) |
single nucleotide variant |
not provided [RCV001319015] |
Chr1:43447970 [GRCh38]
Chr1:43913641 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5919A>G (p.Gln1973=) |
single nucleotide variant |
not provided [RCV001300529] |
Chr1:43435214 [GRCh38]
Chr1:43900885 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5075C>A (p.Thr1692Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457990]|Inborn genetic diseases [RCV002341598]|not provided [RCV001302116] |
Chr1:43431510 [GRCh38]
Chr1:43897181 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6059C>T (p.Ala2020Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458008]|not provided [RCV001320679] |
Chr1:43437195 [GRCh38]
Chr1:43902866 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1487C>T (p.Thr496Met) |
single nucleotide variant |
not provided [RCV001322187] |
Chr1:43420974 [GRCh38]
Chr1:43886645 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9184C>T (p.His3062Tyr) |
single nucleotide variant |
not provided [RCV001345148] |
Chr1:43447066 [GRCh38]
Chr1:43912737 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4280C>T (p.Ala1427Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458010]|Inborn genetic diseases [RCV002322248]|not provided [RCV001324332] |
Chr1:43429816 [GRCh38]
Chr1:43895487 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1831A>T (p.Arg611Trp) |
single nucleotide variant |
not provided [RCV001344184] |
Chr1:43422541 [GRCh38]
Chr1:43888212 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4082G>C (p.Gly1361Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458016]|not provided [RCV001344229] |
Chr1:43428402 [GRCh38]
Chr1:43894073 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8957C>A (p.Ala2986Glu) |
single nucleotide variant |
not provided [RCV001361659] |
Chr1:43446219 [GRCh38]
Chr1:43911890 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.595A>G (p.Thr199Ala) |
single nucleotide variant |
not provided [RCV001363400] |
Chr1:43415178 [GRCh38]
Chr1:43880849 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1626+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy 18 [RCV001335724] |
Chr1:43421305 [GRCh38]
Chr1:43886976 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3919+16G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335726]|not provided [RCV002070205] |
Chr1:43428134 [GRCh38]
Chr1:43893805 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8804G>A (p.Arg2935Gln) |
single nucleotide variant |
not provided [RCV001302272] |
Chr1:43443775 [GRCh38]
Chr1:43909446 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10206C>T (p.Ser3402=) |
single nucleotide variant |
not provided [RCV001344290] |
Chr1:43450387 [GRCh38]
Chr1:43916058 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2630C>A (p.Thr877Asn) |
single nucleotide variant |
not provided [RCV001313472] |
Chr1:43425192 [GRCh38]
Chr1:43890863 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8630G>A (p.Arg2877His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458019]|Inborn genetic diseases [RCV002547079]|not provided [RCV001347551] |
Chr1:43443601 [GRCh38]
Chr1:43909272 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2572G>A (p.Ala858Thr) |
single nucleotide variant |
not provided [RCV001347563] |
Chr1:43425134 [GRCh38]
Chr1:43890805 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7043-8_7043-6del |
deletion |
not provided [RCV001347614] |
Chr1:43439871..43439873 [GRCh38]
Chr1:43905542..43905544 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3833C>T (p.Ser1278Phe) |
single nucleotide variant |
not provided [RCV001361748] |
Chr1:43428032 [GRCh38]
Chr1:43893703 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5014G>A (p.Glu1672Lys) |
single nucleotide variant |
not provided [RCV001372696] |
Chr1:43431362 [GRCh38]
Chr1:43897033 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3928C>T (p.Arg1310Cys) |
single nucleotide variant |
not provided [RCV001363453] |
Chr1:43428248 [GRCh38]
Chr1:43893919 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8606C>T (p.Ser2869Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457985]|Inborn genetic diseases [RCV002447266]|not provided [RCV001296469] |
Chr1:43443458 [GRCh38]
Chr1:43909129 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8703G>A (p.Pro2901=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457983]|not provided [RCV001294640] |
Chr1:43443674 [GRCh38]
Chr1:43909345 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5268C>G (p.Phe1756Leu) |
single nucleotide variant |
not provided [RCV001339200] |
Chr1:43431895 [GRCh38]
Chr1:43897566 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10072G>A (p.Gly3358Arg) |
single nucleotide variant |
not provided [RCV001322376] |
Chr1:43448714 [GRCh38]
Chr1:43914385 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9135C>G (p.Phe3045Leu) |
single nucleotide variant |
not provided [RCV001322425] |
Chr1:43447017 [GRCh38]
Chr1:43912688 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7517G>A (p.Arg2506Gln) |
single nucleotide variant |
not provided [RCV001323437] |
Chr1:43441509 [GRCh38]
Chr1:43907180 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6449G>A (p.Arg2150His) |
single nucleotide variant |
not provided [RCV001345342] |
Chr1:43437843 [GRCh38]
Chr1:43903514 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8030C>T (p.Ala2677Val) |
single nucleotide variant |
not provided [RCV001349878] |
Chr1:43442497 [GRCh38]
Chr1:43908168 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8027G>T (p.Arg2676Leu) |
single nucleotide variant |
not provided [RCV001347704] |
Chr1:43442494 [GRCh38]
Chr1:43908165 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7753_7754delinsTT (p.Pro2585Leu) |
indel |
not provided [RCV001372936] |
Chr1:43442010..43442011 [GRCh38]
Chr1:43907681..43907682 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001291651]|not provided [RCV001383855] |
Chr1:43448290 [GRCh38]
Chr1:43913961 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.3664C>T (p.Arg1222Cys) |
single nucleotide variant |
not provided [RCV001298550] |
Chr1:43427595 [GRCh38]
Chr1:43893266 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7552C>T (p.Leu2518Phe) |
single nucleotide variant |
not provided [RCV001317213] |
Chr1:43441544 [GRCh38]
Chr1:43907215 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.720G>A (p.Met240Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458173]|not provided [RCV001341450] |
Chr1:43416049 [GRCh38]
Chr1:43881720 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7639C>T (p.His2547Tyr) |
single nucleotide variant |
not provided [RCV001300897] |
Chr1:43441715 [GRCh38]
Chr1:43907386 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8255G>C (p.Arg2752Pro) |
single nucleotide variant |
not provided [RCV001362029] |
Chr1:43442922 [GRCh38]
Chr1:43908593 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4600G>A (p.Val1534Ile) |
single nucleotide variant |
not provided [RCV001363602] |
Chr1:43430615 [GRCh38]
Chr1:43896286 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.329A>G (p.Asp110Gly) |
single nucleotide variant |
not provided [RCV001363621] |
Chr1:43404381 [GRCh38]
Chr1:43870052 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7238C>G (p.Thr2413Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458011]|Inborn genetic diseases [RCV002546120]|not provided [RCV001324954] |
Chr1:43440480 [GRCh38]
Chr1:43906151 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1811G>A (p.Arg604His) |
single nucleotide variant |
not provided [RCV001324982] |
Chr1:43422521 [GRCh38]
Chr1:43888192 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8878T>A (p.Phe2960Ile) |
single nucleotide variant |
not provided [RCV001296540] |
Chr1:43445946 [GRCh38]
Chr1:43911617 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7136G>T (p.Arg2379Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330847] |
Chr1:43439974 [GRCh38]
Chr1:43905645 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9079A>G (p.Met3027Val) |
single nucleotide variant |
not provided [RCV001308211] |
Chr1:43446961 [GRCh38]
Chr1:43912632 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9215C>T (p.Thr3072Ile) |
single nucleotide variant |
not provided [RCV001343142] |
Chr1:43447097 [GRCh38]
Chr1:43912768 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7487C>T (p.Ser2496Leu) |
single nucleotide variant |
not provided [RCV001345482] |
Chr1:43441356 [GRCh38]
Chr1:43907027 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5666C>T (p.Ala1889Val) |
single nucleotide variant |
not provided [RCV001363717] |
Chr1:43433052 [GRCh38]
Chr1:43898723 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.511G>A (p.Gly171Ser) |
single nucleotide variant |
not provided [RCV001364288] |
Chr1:43415094 [GRCh38]
Chr1:43880765 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9110G>A (p.Arg3037Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458033]|Inborn genetic diseases [RCV002548647]|not provided [RCV001370757] |
Chr1:43446992 [GRCh38]
Chr1:43912663 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9536A>G (p.Gln3179Arg) |
single nucleotide variant |
not provided [RCV001350627] |
Chr1:43447944 [GRCh38]
Chr1:43913615 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7801C>T (p.Arg2601Cys) |
single nucleotide variant |
not provided [RCV001350648] |
Chr1:43442058 [GRCh38]
Chr1:43907729 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2324C>T (p.Pro775Leu) |
single nucleotide variant |
not provided [RCV001309229] |
Chr1:43424285 [GRCh38]
Chr1:43889956 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9875G>A (p.Arg3292Gln) |
single nucleotide variant |
not provided [RCV001341626] |
Chr1:43448390 [GRCh38]
Chr1:43914061 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5815C>T (p.Arg1939Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458017]|not provided [RCV001344506] |
Chr1:43434396 [GRCh38]
Chr1:43900067 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1261+4A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446714]|Inborn genetic diseases [RCV002438794]|not provided [RCV001344557] |
Chr1:43420327 [GRCh38]
Chr1:43885998 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2083C>T (p.His695Tyr) |
single nucleotide variant |
not provided [RCV001345537] |
Chr1:43423144 [GRCh38]
Chr1:43888815 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NC_000001.10:g.(?_43912606)_(43916171_?)del |
deletion |
not provided [RCV001323677] |
Chr1:43912606..43916171 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9202G>A (p.Gly3068Ser) |
single nucleotide variant |
not provided [RCV001373226] |
Chr1:43447084 [GRCh38]
Chr1:43912755 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8635C>T (p.Arg2879Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003136038]|not provided [RCV001368117] |
Chr1:43443606 [GRCh38]
Chr1:43909277 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8563C>T (p.Leu2855Phe) |
single nucleotide variant |
not provided [RCV001363877] |
Chr1:43443415 [GRCh38]
Chr1:43909086 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.808C>T (p.Pro270Ser) |
single nucleotide variant |
not provided [RCV001370993] |
Chr1:43416570 [GRCh38]
Chr1:43882241 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2452C>T (p.Leu818Phe) |
single nucleotide variant |
not provided [RCV001371015] |
Chr1:43424413 [GRCh38]
Chr1:43890084 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2807C>G (p.Pro936Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458026]|Inborn genetic diseases [RCV003284257]|not provided [RCV001360118] |
Chr1:43425635 [GRCh38]
Chr1:43891306 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1824C>G (p.Ile608Met) |
single nucleotide variant |
not provided [RCV001314381] |
Chr1:43422534 [GRCh38]
Chr1:43888205 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7325_7326delinsAG (p.Arg2442Gln) |
indel |
not provided [RCV001298830] |
Chr1:43440567..43440568 [GRCh38]
Chr1:43906238..43906239 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4765A>G (p.Thr1589Ala) |
single nucleotide variant |
not provided [RCV001298896] |
Chr1:43430780 [GRCh38]
Chr1:43896451 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4909C>T (p.His1637Tyr) |
single nucleotide variant |
not provided [RCV001340347] |
Chr1:43431083 [GRCh38]
Chr1:43896754 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3670G>C (p.Ala1224Pro) |
single nucleotide variant |
not provided [RCV001362498] |
Chr1:43427601 [GRCh38]
Chr1:43893272 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1055G>A (p.Arg352His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458028]|not provided [RCV001363883] |
Chr1:43419909 [GRCh38]
Chr1:43885580 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7405C>G (p.Arg2469Gly) |
single nucleotide variant |
not provided [RCV001324639] |
Chr1:43441274 [GRCh38]
Chr1:43906945 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.949G>T (p.Ala317Ser) |
single nucleotide variant |
not provided [RCV001350758] |
Chr1:43419803 [GRCh38]
Chr1:43885474 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6284A>T (p.Tyr2095Phe) |
single nucleotide variant |
not provided [RCV001325251] |
Chr1:43437502 [GRCh38]
Chr1:43903173 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1542C>G (p.Ser514=) |
single nucleotide variant |
not provided [RCV001295846] |
Chr1:43421219 [GRCh38]
Chr1:43886890 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3739G>A (p.Glu1247Lys) |
single nucleotide variant |
not provided [RCV001352280] |
Chr1:43427670 [GRCh38]
Chr1:43893341 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2569G>A (p.Ala857Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458032]|not provided [RCV001370266] |
Chr1:43425131 [GRCh38]
Chr1:43890802 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9739C>G (p.Leu3247Val) |
single nucleotide variant |
not provided [RCV001299606] |
Chr1:43448254 [GRCh38]
Chr1:43913925 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2795A>G (p.Tyr932Cys) |
single nucleotide variant |
not provided [RCV001360210] |
Chr1:43425623 [GRCh38]
Chr1:43891294 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7554T>C (p.Leu2518=) |
single nucleotide variant |
not provided [RCV001396093] |
Chr1:43441546 [GRCh38]
Chr1:43907217 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6262C>T (p.Arg2088Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy 18 [RCV001335730] |
Chr1:43437480 [GRCh38]
Chr1:43903151 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.6583G>A (p.Val2195Ile) |
single nucleotide variant |
not provided [RCV001370508] |
Chr1:43438773 [GRCh38]
Chr1:43904444 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10154C>T (p.Thr3385Met) |
single nucleotide variant |
not provided [RCV001318383] |
Chr1:43450170 [GRCh38]
Chr1:43915841 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3917G>A (p.Arg1306His) |
single nucleotide variant |
not provided [RCV001360468] |
Chr1:43428116 [GRCh38]
Chr1:43893787 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7520C>T (p.Thr2507Ile) |
single nucleotide variant |
not provided [RCV001299998] |
Chr1:43441512 [GRCh38]
Chr1:43907183 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8013G>A (p.Gly2671=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458042]|not provided [RCV001412520] |
Chr1:43442480 [GRCh38]
Chr1:43908151 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9017_9020del (p.Lys3006fs) |
deletion |
not provided [RCV001269535] |
Chr1:43446359..43446362 [GRCh38]
Chr1:43912030..43912033 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.429C>T (p.Ile143=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458174]|not provided [RCV001422040] |
Chr1:43404481 [GRCh38]
Chr1:43870152 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002265990]|not provided [RCV001367948] |
Chr1:43448456 [GRCh38]
Chr1:43914127 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6010C>G (p.Gln2004Glu) |
single nucleotide variant |
not provided [RCV001337261] |
Chr1:43435305 [GRCh38]
Chr1:43900976 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2038-6C>T |
single nucleotide variant |
not provided [RCV001414236] |
Chr1:43423093 [GRCh38]
Chr1:43888764 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8368G>A (p.Val2790Ile) |
single nucleotide variant |
not provided [RCV001338252] |
Chr1:43443035 [GRCh38]
Chr1:43908706 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7694T>C (p.Val2565Ala) |
single nucleotide variant |
not provided [RCV001340932] |
Chr1:43441770 [GRCh38]
Chr1:43907441 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8636G>T (p.Arg2879Leu) |
single nucleotide variant |
not provided [RCV001367289] |
Chr1:43443607 [GRCh38]
Chr1:43909278 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9376T>C (p.Leu3126=) |
single nucleotide variant |
not provided [RCV001412731] |
Chr1:43447634 [GRCh38]
Chr1:43913305 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1626+8G>C |
single nucleotide variant |
not provided [RCV001395635] |
Chr1:43421311 [GRCh38]
Chr1:43886982 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3771G>C (p.Gln1257His) |
single nucleotide variant |
not provided [RCV001352475] |
Chr1:43427702 [GRCh38]
Chr1:43893373 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9516TGC[3] (p.Ala3174dup) |
microsatellite |
not provided [RCV001367462] |
Chr1:43447923..43447924 [GRCh38]
Chr1:43913594..43913595 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7916G>T (p.Ser2639Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001330849] |
Chr1:43442310 [GRCh38]
Chr1:43907981 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5120G>A (p.Gly1707Glu) |
single nucleotide variant |
not provided [RCV001325799] |
Chr1:43431747 [GRCh38]
Chr1:43897418 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4324A>G (p.Ile1442Val) |
single nucleotide variant |
not provided [RCV001314978] |
Chr1:43430026 [GRCh38]
Chr1:43895697 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4982A>G (p.Asp1661Gly) |
single nucleotide variant |
not provided [RCV001314979] |
Chr1:43431330 [GRCh38]
Chr1:43897001 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2159C>T (p.Pro720Leu) |
single nucleotide variant |
not provided [RCV001316234] |
Chr1:43423220 [GRCh38]
Chr1:43888891 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6877+4C>T |
single nucleotide variant |
not provided [RCV001298170] |
Chr1:43439446 [GRCh38]
Chr1:43905117 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7328G>A (p.Ser2443Asn) |
single nucleotide variant |
not provided [RCV001316799] |
Chr1:43440570 [GRCh38]
Chr1:43906241 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3722T>C (p.Ile1241Thr) |
single nucleotide variant |
not provided [RCV001371856] |
Chr1:43427653 [GRCh38]
Chr1:43893324 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8281A>G (p.Thr2761Ala) |
single nucleotide variant |
not provided [RCV001303252] |
Chr1:43442948 [GRCh38]
Chr1:43908619 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9670G>C (p.Ala3224Pro) |
single nucleotide variant |
not provided [RCV001351365] |
Chr1:43448185 [GRCh38]
Chr1:43913856 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9041G>A (p.Arg3014Gln) |
single nucleotide variant |
not provided [RCV001297716] |
Chr1:43446385 [GRCh38]
Chr1:43912056 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8413C>T (p.Arg2805Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457995]|Inborn genetic diseases [RCV002543187]|not provided [RCV001307217] |
Chr1:43443080 [GRCh38]
Chr1:43908751 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4807G>T (p.Val1603Phe) |
single nucleotide variant |
not provided [RCV001327699] |
Chr1:43430981 [GRCh38]
Chr1:43896652 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8151+3G>A |
single nucleotide variant |
not provided [RCV001327700] |
Chr1:43442621 [GRCh38]
Chr1:43908292 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5619C>G (p.Ser1873Arg) |
single nucleotide variant |
not provided [RCV001368994] |
Chr1:43433005 [GRCh38]
Chr1:43898676 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5966G>A (p.Ser1989Asn) |
single nucleotide variant |
not provided [RCV001361100] |
Chr1:43435261 [GRCh38]
Chr1:43900932 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3895C>T (p.His1299Tyr) |
single nucleotide variant |
not provided [RCV001372057] |
Chr1:43428094 [GRCh38]
Chr1:43893765 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5226A>T (p.Pro1742=) |
single nucleotide variant |
not provided [RCV001395113] |
Chr1:43431853 [GRCh38]
Chr1:43897524 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1378G>A (p.Glu460Lys) |
single nucleotide variant |
not provided [RCV001296535] |
Chr1:43420865 [GRCh38]
Chr1:43886536 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3336G>A (p.Lys1112=) |
single nucleotide variant |
not provided [RCV001421552] |
Chr1:43427082 [GRCh38]
Chr1:43892753 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6559G>A (p.Glu2187Lys) |
single nucleotide variant |
not provided [RCV001317066] |
Chr1:43438749 [GRCh38]
Chr1:43904420 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7317G>A (p.Ala2439=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458062]|Inborn genetic diseases [RCV002368508]|not provided [RCV001493837] |
Chr1:43440559 [GRCh38]
Chr1:43906230 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4434A>T (p.Lys1478Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458069]|not provided [RCV001507441] |
Chr1:43430343 [GRCh38]
Chr1:43896014 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6231G>A (p.Val2077=) |
single nucleotide variant |
not provided [RCV001395079] |
Chr1:43437449 [GRCh38]
Chr1:43903120 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2792C>T (p.Thr931Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458001]|Inborn genetic diseases [RCV002438701]|not provided [RCV001313397] |
Chr1:43425620 [GRCh38]
Chr1:43891291 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1742G>A (p.Arg581His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457994]|Inborn genetic diseases [RCV002402856]|not provided [RCV001306126] |
Chr1:43422198 [GRCh38]
Chr1:43887869 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.970T>C (p.Tyr324His) |
single nucleotide variant |
not provided [RCV001297185] |
Chr1:43419824 [GRCh38]
Chr1:43885495 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7470T>C (p.Ala2490=) |
single nucleotide variant |
not provided [RCV001395100] |
Chr1:43441339 [GRCh38]
Chr1:43907010 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7975-9G>T |
single nucleotide variant |
not provided [RCV001421942] |
Chr1:43442433 [GRCh38]
Chr1:43908104 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8209A>G (p.Ser2737Gly) |
single nucleotide variant |
not provided [RCV001312789] |
Chr1:43442876 [GRCh38]
Chr1:43908547 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8812T>A (p.Ser2938Thr) |
single nucleotide variant |
not provided [RCV001351617] |
Chr1:43443783 [GRCh38]
Chr1:43909454 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9682T>C (p.Ser3228Pro) |
single nucleotide variant |
not provided [RCV001316328] |
Chr1:43448197 [GRCh38]
Chr1:43913868 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9841C>T (p.Arg3281Cys) |
single nucleotide variant |
not provided [RCV001339442] |
Chr1:43448356 [GRCh38]
Chr1:43914027 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3295G>A (p.Ala1099Thr) |
single nucleotide variant |
not provided [RCV001308335] |
Chr1:43426795 [GRCh38]
Chr1:43892466 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4801C>T (p.Pro1601Ser) |
single nucleotide variant |
not provided [RCV001326679] |
Chr1:43430975 [GRCh38]
Chr1:43896646 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3785C>G (p.Pro1262Arg) |
single nucleotide variant |
not provided [RCV001294601] |
Chr1:43427716 [GRCh38]
Chr1:43893387 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.992C>T (p.Pro331Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457993]|Inborn genetic diseases [RCV002543126]|not provided [RCV001305236] |
Chr1:43419846 [GRCh38]
Chr1:43885517 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6357G>T (p.Leu2119=) |
single nucleotide variant |
not provided [RCV001486535] |
Chr1:43437661 [GRCh38]
Chr1:43903332 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1683C>T (p.Tyr561=) |
single nucleotide variant |
not provided [RCV001419677] |
Chr1:43422139 [GRCh38]
Chr1:43887810 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1302A>G (p.Lys434=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458049]|Inborn genetic diseases [RCV002384640]|not provided [RCV001429947] |
Chr1:43420789 [GRCh38]
Chr1:43886460 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2625C>T (p.His875=) |
single nucleotide variant |
not provided [RCV001456992] |
Chr1:43425187 [GRCh38]
Chr1:43890858 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2471+7C>T |
single nucleotide variant |
not provided [RCV001474976] |
Chr1:43424439 [GRCh38]
Chr1:43890110 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.120C>T (p.His40=) |
single nucleotide variant |
not provided [RCV001454509] |
Chr1:43403269 [GRCh38]
Chr1:43868940 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4995G>T (p.Gly1665=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458047]|Inborn genetic diseases [RCV002329467]|not provided [RCV001424755] |
Chr1:43431343 [GRCh38]
Chr1:43897014 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7068A>G (p.Arg2356=) |
single nucleotide variant |
not provided [RCV001438416] |
Chr1:43439906 [GRCh38]
Chr1:43905577 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9564-6C>T |
single nucleotide variant |
not provided [RCV001478322] |
Chr1:43448073 [GRCh38]
Chr1:43913744 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1635C>T (p.Ser545=) |
single nucleotide variant |
not provided [RCV001492341] |
Chr1:43422091 [GRCh38]
Chr1:43887762 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2127A>G (p.Lys709=) |
single nucleotide variant |
not provided [RCV001451027] |
Chr1:43423188 [GRCh38]
Chr1:43888859 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9258C>T (p.Pro3086=) |
single nucleotide variant |
not provided [RCV001505826] |
Chr1:43447140 [GRCh38]
Chr1:43912811 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6188-7C>T |
single nucleotide variant |
not provided [RCV001495474] |
Chr1:43437399 [GRCh38]
Chr1:43903070 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4576C>T (p.Leu1526=) |
single nucleotide variant |
not provided [RCV001424976] |
Chr1:43430591 [GRCh38]
Chr1:43896262 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3492T>C (p.Pro1164=) |
single nucleotide variant |
not provided [RCV001441122] |
Chr1:43427339 [GRCh38]
Chr1:43893010 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1878C>T (p.Ser626=) |
single nucleotide variant |
not provided [RCV001492396] |
Chr1:43422588 [GRCh38]
Chr1:43888259 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1090+10A>C |
single nucleotide variant |
not provided [RCV001455007] |
Chr1:43419954 [GRCh38]
Chr1:43885625 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7161C>T (p.Ile2387=) |
single nucleotide variant |
not provided [RCV001436082] |
Chr1:43439999 [GRCh38]
Chr1:43905670 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6509-4C>T |
single nucleotide variant |
not provided [RCV001451428] |
Chr1:43438695 [GRCh38]
Chr1:43904366 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3816C>T (p.Leu1272=) |
single nucleotide variant |
not provided [RCV001435991] |
Chr1:43428015 [GRCh38]
Chr1:43893686 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1467T>C (p.Val489=) |
single nucleotide variant |
not provided [RCV001500080] |
Chr1:43420954 [GRCh38]
Chr1:43886625 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9321C>T (p.Ala3107=) |
single nucleotide variant |
not provided [RCV001399966] |
Chr1:43447579 [GRCh38]
Chr1:43913250 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8970C>A (p.Gly2990=) |
single nucleotide variant |
not provided [RCV001417675] |
Chr1:43446232 [GRCh38]
Chr1:43911903 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.159G>A (p.Gln53=) |
single nucleotide variant |
not provided [RCV001402619] |
Chr1:43403606 [GRCh38]
Chr1:43869277 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7020G>C (p.Pro2340=) |
single nucleotide variant |
not provided [RCV001488347] |
Chr1:43439747 [GRCh38]
Chr1:43905418 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5694G>A (p.Gly1898=) |
single nucleotide variant |
not provided [RCV001503435] |
Chr1:43433080 [GRCh38]
Chr1:43898751 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10155+8C>T |
single nucleotide variant |
not provided [RCV001458998] |
Chr1:43450179 [GRCh38]
Chr1:43915850 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3687T>C (p.Ser1229=) |
single nucleotide variant |
not provided [RCV001436571] |
Chr1:43427618 [GRCh38]
Chr1:43893289 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9432A>G (p.Ala3144=) |
single nucleotide variant |
not provided [RCV001441875] |
Chr1:43447690 [GRCh38]
Chr1:43913361 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9378G>A (p.Leu3126=) |
single nucleotide variant |
not provided [RCV001475512] |
Chr1:43447636 [GRCh38]
Chr1:43913307 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1044T>C (p.Tyr348=) |
single nucleotide variant |
not provided [RCV001466428] |
Chr1:43419898 [GRCh38]
Chr1:43885569 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8556A>G (p.Thr2852=) |
single nucleotide variant |
not provided [RCV001486649] |
Chr1:43443408 [GRCh38]
Chr1:43909079 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4386A>G (p.Pro1462=) |
single nucleotide variant |
not provided [RCV001503993] |
Chr1:43430088 [GRCh38]
Chr1:43895759 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4309-1G>A |
single nucleotide variant |
not provided [RCV001379186] |
Chr1:43430010 [GRCh38]
Chr1:43895681 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.3990T>C (p.Cys1330=) |
single nucleotide variant |
not provided [RCV001455791] |
Chr1:43428310 [GRCh38]
Chr1:43893981 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9287-5C>T |
single nucleotide variant |
not provided [RCV001503409] |
Chr1:43447540 [GRCh38]
Chr1:43913211 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8825+8C>G |
single nucleotide variant |
not provided [RCV001503462] |
Chr1:43443804 [GRCh38]
Chr1:43909475 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8916+3_8916+7dup |
duplication |
not provided [RCV001491686] |
Chr1:43445985..43445986 [GRCh38]
Chr1:43911656..43911657 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1338C>G (p.Pro446=) |
single nucleotide variant |
not provided [RCV001487249] |
Chr1:43420825 [GRCh38]
Chr1:43886496 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5872C>A (p.Arg1958=) |
single nucleotide variant |
not provided [RCV001466075] |
Chr1:43434453 [GRCh38]
Chr1:43900124 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7389T>C (p.Asp2463=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458067]|Inborn genetic diseases [RCV002377879]|not provided [RCV001503674] |
Chr1:43441258 [GRCh38]
Chr1:43906929 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8514G>A (p.Glu2838=) |
single nucleotide variant |
not provided [RCV001474540] |
Chr1:43443366 [GRCh38]
Chr1:43909037 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9159C>T (p.Leu3053=) |
single nucleotide variant |
not provided [RCV001474555] |
Chr1:43447041 [GRCh38]
Chr1:43912712 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9993C>T (p.Val3331=) |
single nucleotide variant |
not provided [RCV001493015] |
Chr1:43448635 [GRCh38]
Chr1:43914306 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2226G>A (p.Leu742=) |
single nucleotide variant |
not provided [RCV001475828] |
Chr1:43423287 [GRCh38]
Chr1:43888958 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6034+7T>G |
single nucleotide variant |
not provided [RCV001477905] |
Chr1:43435336 [GRCh38]
Chr1:43901007 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7278C>G (p.Ala2426=) |
single nucleotide variant |
not provided [RCV001456597] |
Chr1:43440520 [GRCh38]
Chr1:43906191 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7230G>A (p.Ser2410=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458054]|Inborn genetic diseases [RCV002368422]|not provided [RCV001463893] |
Chr1:43440472 [GRCh38]
Chr1:43906143 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6018A>T (p.Ala2006=) |
single nucleotide variant |
not provided [RCV001398146] |
Chr1:43435313 [GRCh38]
Chr1:43900984 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1593A>G (p.Pro531=) |
single nucleotide variant |
not provided [RCV001393356] |
Chr1:43421270 [GRCh38]
Chr1:43886941 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5103G>A (p.Leu1701=) |
single nucleotide variant |
not provided [RCV001506049] |
Chr1:43431730 [GRCh38]
Chr1:43897401 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5088+9C>T |
single nucleotide variant |
not provided [RCV001506052] |
Chr1:43431532 [GRCh38]
Chr1:43897203 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7008C>G (p.Val2336=) |
single nucleotide variant |
not provided [RCV001472290] |
Chr1:43439735 [GRCh38]
Chr1:43905406 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7287T>G (p.Pro2429=) |
single nucleotide variant |
not provided [RCV001472322] |
Chr1:43440529 [GRCh38]
Chr1:43906200 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4893G>A (p.Thr1631=) |
single nucleotide variant |
not provided [RCV001491817] |
Chr1:43431067 [GRCh38]
Chr1:43896738 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4080T>C (p.Pro1360=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458065]|Inborn genetic diseases [RCV002377867]|not provided [RCV001498184] |
Chr1:43428400 [GRCh38]
Chr1:43894071 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8420-9A>G |
single nucleotide variant |
not provided [RCV001498276] |
Chr1:43443179 [GRCh38]
Chr1:43908850 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6210G>T (p.Val2070=) |
single nucleotide variant |
not provided [RCV001484434] |
Chr1:43437428 [GRCh38]
Chr1:43903099 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3967T>C (p.Leu1323=) |
single nucleotide variant |
not provided [RCV001463647] |
Chr1:43428287 [GRCh38]
Chr1:43893958 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6705A>G (p.Pro2235=) |
single nucleotide variant |
not provided [RCV001472495] |
Chr1:43439006 [GRCh38]
Chr1:43904677 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4872C>T (p.Pro1624=) |
single nucleotide variant |
not provided [RCV001493370] |
Chr1:43431046 [GRCh38]
Chr1:43896717 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2442C>T (p.Ala814=) |
single nucleotide variant |
not provided [RCV001498397] |
Chr1:43424403 [GRCh38]
Chr1:43890074 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4540C>A (p.Arg1514=) |
single nucleotide variant |
not provided [RCV001481560] |
Chr1:43430555 [GRCh38]
Chr1:43896226 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4209C>T (p.Thr1403=) |
single nucleotide variant |
not provided [RCV001467366] |
Chr1:43429745 [GRCh38]
Chr1:43895416 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1542C>T (p.Ser514=) |
single nucleotide variant |
not provided [RCV001440316] |
Chr1:43421219 [GRCh38]
Chr1:43886890 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8274C>T (p.Pro2758=) |
single nucleotide variant |
not provided [RCV001416232] |
Chr1:43442941 [GRCh38]
Chr1:43908612 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4309-5A>C |
single nucleotide variant |
not provided [RCV001512674] |
Chr1:43430006 [GRCh38]
Chr1:43895677 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.4584T>A (p.Ser1528=) |
single nucleotide variant |
not provided [RCV001453088] |
Chr1:43430599 [GRCh38]
Chr1:43896270 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8796A>G (p.Val2932=) |
single nucleotide variant |
not provided [RCV001456596] |
Chr1:43443767 [GRCh38]
Chr1:43909438 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.471C>G (p.Ser157=) |
single nucleotide variant |
not provided [RCV001472791] |
Chr1:43404523 [GRCh38]
Chr1:43870194 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9287-95_9309del |
deletion |
not provided [RCV001377449] |
Chr1:43447447..43447564 [GRCh38]
Chr1:43913118..43913235 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.198T>G (p.Pro66=) |
single nucleotide variant |
not provided [RCV001440659] |
Chr1:43403645 [GRCh38]
Chr1:43869316 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8697G>A (p.Ser2899=) |
single nucleotide variant |
not provided [RCV001400592] |
Chr1:43443668 [GRCh38]
Chr1:43909339 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4828A>C (p.Arg1610=) |
single nucleotide variant |
not provided [RCV001428732] |
Chr1:43431002 [GRCh38]
Chr1:43896673 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-8C>T |
single nucleotide variant |
not provided [RCV001432452] |
Chr1:43442260 [GRCh38]
Chr1:43907931 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5630_5633del (p.Asp1877fs) |
deletion |
not provided [RCV001384998] |
Chr1:43433013..43433016 [GRCh38]
Chr1:43898684..43898687 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1911G>A (p.Lys637=) |
single nucleotide variant |
not provided [RCV001399570] |
Chr1:43422621 [GRCh38]
Chr1:43888292 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8835G>A (p.Arg2945=) |
single nucleotide variant |
not provided [RCV001430298] |
Chr1:43445903 [GRCh38]
Chr1:43911574 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1014G>A (p.Leu338=) |
single nucleotide variant |
not provided [RCV001441136] |
Chr1:43419868 [GRCh38]
Chr1:43885539 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6567G>A (p.Thr2189=) |
single nucleotide variant |
not provided [RCV001416944] |
Chr1:43438757 [GRCh38]
Chr1:43904428 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4742C>G (p.Ser1581Ter) |
single nucleotide variant |
not provided [RCV001380284] |
Chr1:43430757 [GRCh38]
Chr1:43896428 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8184A>G (p.Glu2728=) |
single nucleotide variant |
not provided [RCV001406983] |
Chr1:43442851 [GRCh38]
Chr1:43908522 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8175G>A (p.Pro2725=) |
single nucleotide variant |
not provided [RCV001446131] |
Chr1:43442842 [GRCh38]
Chr1:43908513 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4407G>A (p.Glu1469=) |
single nucleotide variant |
not provided [RCV001430270] |
Chr1:43430316 [GRCh38]
Chr1:43895987 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3657C>T (p.Tyr1219=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458038]|Inborn genetic diseases [RCV002456628]|not provided [RCV001399322] |
Chr1:43427588 [GRCh38]
Chr1:43893259 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1275G>A (p.Leu425=) |
single nucleotide variant |
not provided [RCV001407620] |
Chr1:43420762 [GRCh38]
Chr1:43886433 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2814+10C>T |
single nucleotide variant |
not provided [RCV001436004] |
Chr1:43425652 [GRCh38]
Chr1:43891323 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10194G>A (p.Gln3398=) |
single nucleotide variant |
not provided [RCV001444605] |
Chr1:43450375 [GRCh38]
Chr1:43916046 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6270A>C (p.Thr2090=) |
single nucleotide variant |
not provided [RCV001444712] |
Chr1:43437488 [GRCh38]
Chr1:43903159 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9639G>A (p.Arg3213=) |
single nucleotide variant |
not provided [RCV001423747] |
Chr1:43448154 [GRCh38]
Chr1:43913825 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7743-11_7743-8del |
deletion |
not provided [RCV001392929] |
Chr1:43441989..43441992 [GRCh38]
Chr1:43907660..43907663 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4034C>A (p.Ala1345Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001542278] |
Chr1:43428354 [GRCh38]
Chr1:43894025 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001420519] |
Chr1:43426511 [GRCh38]
Chr1:43892182 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1191C>T (p.Ala397=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458040]|Inborn genetic diseases [RCV002341877]|not provided [RCV001408118] |
Chr1:43420253 [GRCh38]
Chr1:43885924 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8304A>C (p.Leu2768=) |
single nucleotide variant |
not provided [RCV001403386] |
Chr1:43442971 [GRCh38]
Chr1:43908642 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5517C>A (p.Arg1839=) |
single nucleotide variant |
not provided [RCV001410889] |
Chr1:43432591 [GRCh38]
Chr1:43898262 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2646-9C>T |
single nucleotide variant |
not provided [RCV001405762] |
Chr1:43425465 [GRCh38]
Chr1:43891136 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.499-5C>T |
single nucleotide variant |
not provided [RCV001401288] |
Chr1:43415077 [GRCh38]
Chr1:43880748 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.861G>A (p.Val287=) |
single nucleotide variant |
not provided [RCV001406160] |
Chr1:43416623 [GRCh38]
Chr1:43882294 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3599-4A>G |
single nucleotide variant |
not provided [RCV001445230] |
Chr1:43427526 [GRCh38]
Chr1:43893197 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4914C>T (p.His1638=) |
single nucleotide variant |
not provided [RCV001447742] |
Chr1:43431088 [GRCh38]
Chr1:43896759 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8961G>C (p.Leu2987=) |
single nucleotide variant |
not provided [RCV001447753] |
Chr1:43446223 [GRCh38]
Chr1:43911894 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4941A>G (p.Ser1647=) |
single nucleotide variant |
not provided [RCV001429543] |
Chr1:43431289 [GRCh38]
Chr1:43896960 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4581C>T (p.Asp1527=) |
single nucleotide variant |
not provided [RCV001429584] |
Chr1:43430596 [GRCh38]
Chr1:43896267 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8763G>A (p.Val2921=) |
single nucleotide variant |
not provided [RCV001431790] |
Chr1:43443734 [GRCh38]
Chr1:43909405 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5505C>T (p.Ile1835=) |
single nucleotide variant |
not provided [RCV001408898] |
Chr1:43432579 [GRCh38]
Chr1:43898250 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3900A>G (p.Ala1300=) |
single nucleotide variant |
not provided [RCV001424185] |
Chr1:43428099 [GRCh38]
Chr1:43893770 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5163C>T (p.His1721=) |
single nucleotide variant |
not provided [RCV001436805] |
Chr1:43431790 [GRCh38]
Chr1:43897461 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3633A>G (p.Pro1211=) |
single nucleotide variant |
not provided [RCV001440554] |
Chr1:43427564 [GRCh38]
Chr1:43893235 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9840G>A (p.Lys3280=) |
single nucleotide variant |
not provided [RCV001429764] |
Chr1:43448355 [GRCh38]
Chr1:43914026 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8835G>T (p.Arg2945=) |
single nucleotide variant |
not provided [RCV001406156] |
Chr1:43445903 [GRCh38]
Chr1:43911574 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.135C>T (p.Ala45=) |
single nucleotide variant |
not provided [RCV001448084] |
Chr1:43403284 [GRCh38]
Chr1:43868955 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3345C>T (p.Ile1115=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458037]|Inborn genetic diseases [RCV002322387]|not provided [RCV001398745] |
Chr1:43427091 [GRCh38]
Chr1:43892762 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2109G>A (p.Thr703=) |
single nucleotide variant |
not provided [RCV001398801] |
Chr1:43423170 [GRCh38]
Chr1:43888841 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6126G>A (p.Trp2042Ter) |
single nucleotide variant |
not provided [RCV001381946] |
Chr1:43437262 [GRCh38]
Chr1:43902933 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9459C>T (p.Asp3153=) |
single nucleotide variant |
not provided [RCV001425911] |
Chr1:43447867 [GRCh38]
Chr1:43913538 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3663G>A (p.Gly1221=) |
single nucleotide variant |
not provided [RCV001427521] |
Chr1:43427594 [GRCh38]
Chr1:43893265 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.498+8A>G |
single nucleotide variant |
not provided [RCV001427551] |
Chr1:43404558 [GRCh38]
Chr1:43870229 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5531-8C>G |
single nucleotide variant |
not provided [RCV001443146] |
Chr1:43432720 [GRCh38]
Chr1:43898391 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1905T>C (p.Tyr635=) |
single nucleotide variant |
not provided [RCV001409025] |
Chr1:43422615 [GRCh38]
Chr1:43888286 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4318C>T (p.Leu1440=) |
single nucleotide variant |
not provided [RCV001411657] |
Chr1:43430020 [GRCh38]
Chr1:43895691 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2235A>T (p.Pro745=) |
single nucleotide variant |
not provided [RCV001409306] |
Chr1:43423296 [GRCh38]
Chr1:43888967 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6035-242T>G |
single nucleotide variant |
not provided [RCV001539843] |
Chr1:43436929 [GRCh38]
Chr1:43902600 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8655G>A (p.Gly2885=) |
single nucleotide variant |
not provided [RCV001481592] |
Chr1:43443626 [GRCh38]
Chr1:43909297 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2268G>A (p.Leu756=) |
single nucleotide variant |
not provided [RCV001472856] |
Chr1:43424229 [GRCh38]
Chr1:43889900 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3838G>A (p.Ala1280Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458063]|Inborn genetic diseases [RCV003246971]|not provided [RCV001495661] |
Chr1:43428037 [GRCh38]
Chr1:43893708 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2646-10C>T |
single nucleotide variant |
not provided [RCV001457591] |
Chr1:43425464 [GRCh38]
Chr1:43891135 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2038-46C>T |
single nucleotide variant |
not provided [RCV001707098] |
Chr1:43423053 [GRCh38]
Chr1:43888724 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.4002A>G (p.Leu1334=) |
single nucleotide variant |
not provided [RCV001475912] |
Chr1:43428322 [GRCh38]
Chr1:43893993 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8931G>A (p.Pro2977=) |
single nucleotide variant |
not provided [RCV001479374] |
Chr1:43446193 [GRCh38]
Chr1:43911864 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7278C>T (p.Ala2426=) |
single nucleotide variant |
not provided [RCV001473602] |
Chr1:43440520 [GRCh38]
Chr1:43906191 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6351C>T (p.Leu2117=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458051]|Inborn genetic diseases [RCV002359023]|not provided [RCV001457704] |
Chr1:43437655 [GRCh38]
Chr1:43903326 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6084A>C (p.Thr2028=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458059]|Inborn genetic diseases [RCV002359069]|not provided [RCV001476210] |
Chr1:43437220 [GRCh38]
Chr1:43902891 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5275-9G>C |
single nucleotide variant |
not provided [RCV001479704] |
Chr1:43432263 [GRCh38]
Chr1:43897934 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.772+169A>G |
single nucleotide variant |
not provided [RCV001618894] |
Chr1:43416270 [GRCh38]
Chr1:43881941 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.918T>C (p.His306=) |
single nucleotide variant |
not provided [RCV001451513] |
Chr1:43419772 [GRCh38]
Chr1:43885443 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10038C>A (p.Pro3346=) |
single nucleotide variant |
not provided [RCV001491255] |
Chr1:43448680 [GRCh38]
Chr1:43914351 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4425A>T (p.Val1475=) |
single nucleotide variant |
not provided [RCV001458962] |
Chr1:43430334 [GRCh38]
Chr1:43896005 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-10C>T |
single nucleotide variant |
not provided [RCV001459119] |
Chr1:43442258 [GRCh38]
Chr1:43907929 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8589T>C (p.His2863=) |
single nucleotide variant |
not provided [RCV001476556] |
Chr1:43443441 [GRCh38]
Chr1:43909112 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.327+8A>G |
single nucleotide variant |
not provided [RCV001479958] |
Chr1:43403782 [GRCh38]
Chr1:43869453 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2478A>C (p.Arg826=) |
single nucleotide variant |
not provided [RCV001469549] |
Chr1:43424790 [GRCh38]
Chr1:43890461 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2361G>A (p.Ala787=) |
single nucleotide variant |
not provided [RCV001469675] |
Chr1:43424322 [GRCh38]
Chr1:43889993 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9073-36A>G |
single nucleotide variant |
not provided [RCV001536355] |
Chr1:43446919 [GRCh38]
Chr1:43912590 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.6054C>T (p.Ser2018=) |
single nucleotide variant |
not provided [RCV001455953] |
Chr1:43437190 [GRCh38]
Chr1:43902861 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NC_000001.11:g.43389857G>A |
single nucleotide variant |
not provided [RCV001539181] |
Chr1:43389857 [GRCh38]
Chr1:43855528 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2112C>G (p.Pro704=) |
single nucleotide variant |
not provided [RCV001470335] |
Chr1:43423173 [GRCh38]
Chr1:43888844 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6792+29T>A |
single nucleotide variant |
not provided [RCV001589521] |
Chr1:43439122 [GRCh38]
Chr1:43904793 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1273T>C (p.Leu425=) |
single nucleotide variant |
not provided [RCV001463441] |
Chr1:43420760 [GRCh38]
Chr1:43886431 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8538G>A (p.Leu2846=) |
single nucleotide variant |
not provided [RCV001504247] |
Chr1:43443390 [GRCh38]
Chr1:43909061 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10296C>T (p.Leu3432=) |
single nucleotide variant |
not provided [RCV001487854] |
Chr1:43450477 [GRCh38]
Chr1:43916148 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1860G>T (p.Leu620=) |
single nucleotide variant |
not provided [RCV001452820] |
Chr1:43422570 [GRCh38]
Chr1:43888241 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2255+273G>A |
single nucleotide variant |
not provided [RCV001674898] |
Chr1:43423589 [GRCh38]
Chr1:43889260 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.4074A>G (p.Pro1358=) |
single nucleotide variant |
not provided [RCV001477892] |
Chr1:43428394 [GRCh38]
Chr1:43894065 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6793-4C>T |
single nucleotide variant |
not provided [RCV001460227] |
Chr1:43439354 [GRCh38]
Chr1:43905025 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3852C>T (p.Pro1284=) |
single nucleotide variant |
not provided [RCV001497846] |
Chr1:43428051 [GRCh38]
Chr1:43893722 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7176G>A (p.Leu2392=) |
single nucleotide variant |
not provided [RCV001480788] |
Chr1:43440014 [GRCh38]
Chr1:43905685 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2793G>C (p.Thr931=) |
single nucleotide variant |
not provided [RCV001463542] |
Chr1:43425621 [GRCh38]
Chr1:43891292 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.531C>T (p.Ser177=) |
single nucleotide variant |
SZT2-related condition [RCV003946201]|not provided [RCV001460787] |
Chr1:43415114 [GRCh38]
Chr1:43880785 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1923-6C>T |
single nucleotide variant |
not provided [RCV001498120] |
Chr1:43422763 [GRCh38]
Chr1:43888434 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2169A>T (p.Ser723=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458055]|not provided [RCV001467979] |
Chr1:43423230 [GRCh38]
Chr1:43888901 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4590G>A (p.Ser1530=) |
single nucleotide variant |
SZT2-related condition [RCV003938874]|not provided [RCV001489363] |
Chr1:43430605 [GRCh38]
Chr1:43896276 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4402-7T>C |
single nucleotide variant |
not provided [RCV001501553] |
Chr1:43430304 [GRCh38]
Chr1:43895975 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8817C>T (p.Pro2939=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458046]|not provided [RCV001424653]|not specified [RCV001820119] |
Chr1:43443788 [GRCh38]
Chr1:43909459 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6099T>C (p.Pro2033=) |
single nucleotide variant |
not provided [RCV001495583] |
Chr1:43437235 [GRCh38]
Chr1:43902906 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3978G>A (p.Ala1326=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458056]|Inborn genetic diseases [RCV002359044]|not provided [RCV001468892] |
Chr1:43428298 [GRCh38]
Chr1:43893969 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5175C>T (p.Ala1725=) |
single nucleotide variant |
not provided [RCV001417105] |
Chr1:43431802 [GRCh38]
Chr1:43897473 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3215-4G>T |
single nucleotide variant |
not provided [RCV001428794] |
Chr1:43426711 [GRCh38]
Chr1:43892382 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1632C>T (p.Leu544=) |
single nucleotide variant |
not provided [RCV001477740] |
Chr1:43422088 [GRCh38]
Chr1:43887759 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5979G>A (p.Leu1993=) |
single nucleotide variant |
not provided [RCV001479886] |
Chr1:43435274 [GRCh38]
Chr1:43900945 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9450C>T (p.Ser3150=) |
single nucleotide variant |
not provided [RCV001501655] |
Chr1:43447858 [GRCh38]
Chr1:43913529 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7482A>G (p.Pro2494=) |
single nucleotide variant |
not provided [RCV001482046] |
Chr1:43441351 [GRCh38]
Chr1:43907022 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2471+8_2471+10dup |
duplication |
not provided [RCV001503049] |
Chr1:43424437..43424438 [GRCh38]
Chr1:43890108..43890109 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1536C>T (p.Ser512=) |
single nucleotide variant |
not provided [RCV001487506] |
Chr1:43421213 [GRCh38]
Chr1:43886884 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6039T>C (p.Tyr2013=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458057]|not provided [RCV001474017]|not specified [RCV003399249] |
Chr1:43437175 [GRCh38]
Chr1:43902846 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9252C>T (p.Asp3084=) |
single nucleotide variant |
not provided [RCV001495925] |
Chr1:43447134 [GRCh38]
Chr1:43912805 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1922+10G>C |
single nucleotide variant |
not provided [RCV001458565] |
Chr1:43422642 [GRCh38]
Chr1:43888313 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6867T>C (p.Thr2289=) |
single nucleotide variant |
not provided [RCV001496103] |
Chr1:43439432 [GRCh38]
Chr1:43905103 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9612G>A (p.Arg3204=) |
single nucleotide variant |
not provided [RCV001476040] |
Chr1:43448127 [GRCh38]
Chr1:43913798 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7530A>T (p.Leu2510=) |
single nucleotide variant |
not provided [RCV001483175] |
Chr1:43441522 [GRCh38]
Chr1:43907193 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8500-4C>G |
single nucleotide variant |
not provided [RCV001496457] |
Chr1:43443348 [GRCh38]
Chr1:43909019 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1251A>G (p.Thr417=) |
single nucleotide variant |
not provided [RCV001505108] |
Chr1:43420313 [GRCh38]
Chr1:43885984 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3252G>A (p.Pro1084=) |
single nucleotide variant |
not provided [RCV001476443] |
Chr1:43426752 [GRCh38]
Chr1:43892423 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1605C>T (p.Ile535=) |
single nucleotide variant |
not provided [RCV001476543] |
Chr1:43421282 [GRCh38]
Chr1:43886953 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9189G>C (p.Leu3063=) |
single nucleotide variant |
not provided [RCV001477936] |
Chr1:43447071 [GRCh38]
Chr1:43912742 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9864G>A (p.Pro3288=) |
single nucleotide variant |
not provided [RCV001461719] |
Chr1:43448379 [GRCh38]
Chr1:43914050 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2208G>T (p.Arg736=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458066]|Inborn genetic diseases [RCV002424923]|not provided [RCV001499162] |
Chr1:43423269 [GRCh38]
Chr1:43888940 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9585C>T (p.Leu3195=) |
single nucleotide variant |
not provided [RCV001392888] |
Chr1:43448100 [GRCh38]
Chr1:43913771 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2985A>G (p.Leu995=) |
single nucleotide variant |
not provided [RCV001425505] |
Chr1:43426093 [GRCh38]
Chr1:43891764 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6336G>T (p.Ala2112=) |
single nucleotide variant |
not provided [RCV001498121] |
Chr1:43437640 [GRCh38]
Chr1:43903311 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8500-4C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002424920]|not provided [RCV001498318] |
Chr1:43443348 [GRCh38]
Chr1:43909019 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.9286+1G>A |
single nucleotide variant |
not provided [RCV001378630] |
Chr1:43447169 [GRCh38]
Chr1:43912840 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.8322C>T (p.Ala2774=) |
single nucleotide variant |
not provided [RCV001503672] |
Chr1:43442989 [GRCh38]
Chr1:43908660 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7511+4TG[3] |
microsatellite |
not provided [RCV001451932] |
Chr1:43441384..43441385 [GRCh38]
Chr1:43907055..43907056 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5679G>A (p.Leu1893=) |
single nucleotide variant |
not provided [RCV001434705] |
Chr1:43433065 [GRCh38]
Chr1:43898736 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3987C>T (p.Ala1329=) |
single nucleotide variant |
not provided [RCV001499174] |
Chr1:43428307 [GRCh38]
Chr1:43893978 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9417T>C (p.Tyr3139=) |
single nucleotide variant |
not provided [RCV001479079] |
Chr1:43447675 [GRCh38]
Chr1:43913346 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.51C>T (p.Phe17=) |
single nucleotide variant |
not provided [RCV001454586] |
Chr1:43403200 [GRCh38]
Chr1:43868871 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9429G>T (p.Ser3143=) |
single nucleotide variant |
not provided [RCV001400777] |
Chr1:43447687 [GRCh38]
Chr1:43913358 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2255+1G>T |
single nucleotide variant |
not provided [RCV001378776] |
Chr1:43423317 [GRCh38]
Chr1:43888988 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.6531C>T (p.Leu2177=) |
single nucleotide variant |
not provided [RCV001419915] |
Chr1:43438721 [GRCh38]
Chr1:43904392 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3215-8C>T |
single nucleotide variant |
not provided [RCV001437075] |
Chr1:43426707 [GRCh38]
Chr1:43892378 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1041C>G (p.Leu347=) |
single nucleotide variant |
not provided [RCV001485363] |
Chr1:43419895 [GRCh38]
Chr1:43885566 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2370C>G (p.Ser790=) |
single nucleotide variant |
not provided [RCV001426366] |
Chr1:43424331 [GRCh38]
Chr1:43890002 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7866A>G (p.Thr2622=) |
single nucleotide variant |
not provided [RCV001497062] |
Chr1:43442123 [GRCh38]
Chr1:43907794 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5188dup (p.Ser1730fs) |
duplication |
not provided [RCV001386041] |
Chr1:43431813..43431814 [GRCh38]
Chr1:43897484..43897485 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3599-8C>G |
single nucleotide variant |
not provided [RCV001477049] |
Chr1:43427522 [GRCh38]
Chr1:43893193 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1662C>T (p.Ser554=) |
single nucleotide variant |
not provided [RCV001479419] |
Chr1:43422118 [GRCh38]
Chr1:43887789 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8010G>A (p.Leu2670=) |
single nucleotide variant |
not provided [RCV001398675] |
Chr1:43442477 [GRCh38]
Chr1:43908148 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001420586]|not provided [RCV001568664] |
Chr1:43439703 [GRCh38]
Chr1:43905374 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.547C>T (p.Leu183=) |
single nucleotide variant |
not provided [RCV001495221] |
Chr1:43415130 [GRCh38]
Chr1:43880801 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4134T>G (p.Pro1378=) |
single nucleotide variant |
not provided [RCV001485520] |
Chr1:43428454 [GRCh38]
Chr1:43894125 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.252C>T (p.Ser84=) |
single nucleotide variant |
not provided [RCV001468265] |
Chr1:43403699 [GRCh38]
Chr1:43869370 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7794C>T (p.Pro2598=) |
single nucleotide variant |
not provided [RCV001430904] |
Chr1:43442051 [GRCh38]
Chr1:43907722 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8869C>T (p.Arg2957Ter) |
single nucleotide variant |
not provided [RCV001390142] |
Chr1:43445937 [GRCh38]
Chr1:43911608 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8626-7C>T |
single nucleotide variant |
not provided [RCV001495443] |
Chr1:43443590 [GRCh38]
Chr1:43909261 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1809G>A (p.Gly603=) |
single nucleotide variant |
not provided [RCV001481240] |
Chr1:43422519 [GRCh38]
Chr1:43888190 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1188A>G (p.Pro396=) |
single nucleotide variant |
not provided [RCV001465245] |
Chr1:43420250 [GRCh38]
Chr1:43885921 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9273T>C (p.Asn3091=) |
single nucleotide variant |
not provided [RCV001465290] |
Chr1:43447155 [GRCh38]
Chr1:43912826 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.498+1G>C |
single nucleotide variant |
not provided [RCV001377931] |
Chr1:43404551 [GRCh38]
Chr1:43870222 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.1401C>T (p.Tyr467=) |
single nucleotide variant |
not provided [RCV003108858] |
Chr1:43420888 [GRCh38]
Chr1:43886559 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9359C>A (p.Ser3120Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458079]|not provided [RCV001726752] |
Chr1:43447617 [GRCh38]
Chr1:43913288 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5526G>A (p.Gln1842=) |
single nucleotide variant |
not provided [RCV001726751] |
Chr1:43432600 [GRCh38]
Chr1:43898271 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5572A>G (p.Ser1858Gly) |
single nucleotide variant |
not provided [RCV002244493] |
Chr1:43432769 [GRCh38]
Chr1:43898440 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5189C>T (p.Ser1730Phe) |
single nucleotide variant |
not provided [RCV001761138] |
Chr1:43431816 [GRCh38]
Chr1:43897487 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001190880.3(HYI):c.167G>A (p.Gly56Glu) |
single nucleotide variant |
not specified [RCV002246856] |
Chr1:43453627 [GRCh38]
Chr1:43919298 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.9891dup (p.Arg3298fs) |
duplication |
Developmental and epileptic encephalopathy, 18 [RCV001783843] |
Chr1:43448400..43448401 [GRCh38]
Chr1:43914071..43914072 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.8104C>T (p.Leu2702Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458089]|not provided [RCV001769305] |
Chr1:43442571 [GRCh38]
Chr1:43908242 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7264A>G (p.Thr2422Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458085]|not provided [RCV001766887] |
Chr1:43440506 [GRCh38]
Chr1:43906177 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3004T>C (p.Cys1002Arg) |
single nucleotide variant |
not provided [RCV001770878] |
Chr1:43426112 [GRCh38]
Chr1:43891783 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8546A>T (p.Tyr2849Phe) |
single nucleotide variant |
not provided [RCV002280425] |
Chr1:43443398 [GRCh38]
Chr1:43909069 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8105T>C (p.Leu2702Pro) |
single nucleotide variant |
not provided [RCV001752090] |
Chr1:43442572 [GRCh38]
Chr1:43908243 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7087G>A (p.Gly2363Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458081]|not provided [RCV001762938]|not specified [RCV003226485] |
Chr1:43439925 [GRCh38]
Chr1:43905596 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5701C>T (p.Pro1901Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458080]|Inborn genetic diseases [RCV002539856]|not provided [RCV001754431] |
Chr1:43433087 [GRCh38]
Chr1:43898758 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8497A>G (p.Ser2833Gly) |
single nucleotide variant |
not provided [RCV001773389] |
Chr1:43443265 [GRCh38]
Chr1:43908936 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5870G>A (p.Arg1957Lys) |
single nucleotide variant |
not provided [RCV001767902] |
Chr1:43434451 [GRCh38]
Chr1:43900122 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7780G>T (p.Gly2594Trp) |
single nucleotide variant |
not provided [RCV001774302] |
Chr1:43442037 [GRCh38]
Chr1:43907708 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8925C>G (p.Ser2975Arg) |
single nucleotide variant |
not provided [RCV001764097] |
Chr1:43446187 [GRCh38]
Chr1:43911858 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10000T>G (p.Tyr3334Asp) |
single nucleotide variant |
not provided [RCV001764100] |
Chr1:43448642 [GRCh38]
Chr1:43914313 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8335G>A (p.Val2779Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002540474]|not provided [RCV001774396] |
Chr1:43443002 [GRCh38]
Chr1:43908673 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.1769C>T (p.Thr590Ile) |
single nucleotide variant |
not provided [RCV001774594] |
Chr1:43422225 [GRCh38]
Chr1:43887896 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5986A>G (p.Ser1996Gly) |
single nucleotide variant |
not provided [RCV001752089] |
Chr1:43435281 [GRCh38]
Chr1:43900952 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1007T>G (p.Leu336Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458083]|Inborn genetic diseases [RCV002538786]|not provided [RCV001768680] |
Chr1:43419861 [GRCh38]
Chr1:43885532 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3905G>A (p.Arg1302Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458084]|SZT2-related condition [RCV003407789]|not provided [RCV001768700] |
Chr1:43428104 [GRCh38]
Chr1:43893775 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7358G>A (p.Cys2453Tyr) |
single nucleotide variant |
not provided [RCV001773941] |
Chr1:43441227 [GRCh38]
Chr1:43906898 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9487T>C (p.Phe3163Leu) |
single nucleotide variant |
not provided [RCV001773966] |
Chr1:43447895 [GRCh38]
Chr1:43913566 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.140C>G (p.Pro47Arg) |
single nucleotide variant |
not provided [RCV001752391] |
Chr1:43403289 [GRCh38]
Chr1:43868960 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.83G>A (p.Arg28Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458082]|not provided [RCV001764902] |
Chr1:43403232 [GRCh38]
Chr1:43868903 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10220C>T (p.Ala3407Val) |
single nucleotide variant |
not provided [RCV001752608] |
Chr1:43450401 [GRCh38]
Chr1:43916072 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6593T>C (p.Val2198Ala) |
single nucleotide variant |
not provided [RCV001765154] |
Chr1:43438783 [GRCh38]
Chr1:43904454 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6457G>A (p.Gly2153Ser) |
single nucleotide variant |
not provided [RCV001765156] |
Chr1:43437851 [GRCh38]
Chr1:43903522 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3257A>G (p.Glu1086Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458090]|not provided [RCV001769461] |
Chr1:43426757 [GRCh38]
Chr1:43892428 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4184T>C (p.Leu1395Pro) |
single nucleotide variant |
not provided [RCV001765340] |
Chr1:43429720 [GRCh38]
Chr1:43895391 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5758A>G (p.Ile1920Val) |
single nucleotide variant |
not provided [RCV001769082] |
Chr1:43433144 [GRCh38]
Chr1:43898815 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5314G>A (p.Glu1772Lys) |
single nucleotide variant |
not provided [RCV001761258] |
Chr1:43432311 [GRCh38]
Chr1:43897982 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3688G>A (p.Ala1230Thr) |
single nucleotide variant |
not provided [RCV001765724] |
Chr1:43427619 [GRCh38]
Chr1:43893290 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3274A>C (p.Thr1092Pro) |
single nucleotide variant |
not provided [RCV001766881] |
Chr1:43426774 [GRCh38]
Chr1:43892445 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2095A>T (p.Ser699Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458092]|Inborn genetic diseases [RCV002422832]|not provided [RCV001766045] |
Chr1:43423156 [GRCh38]
Chr1:43888827 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9302C>T (p.Pro3101Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458091]|not provided [RCV001771496] |
Chr1:43447560 [GRCh38]
Chr1:43913231 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5516G>T (p.Arg1839Leu) |
single nucleotide variant |
not provided [RCV001758682] |
Chr1:43432590 [GRCh38]
Chr1:43898261 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2297T>C (p.Leu766Pro) |
single nucleotide variant |
not provided [RCV001758831] |
Chr1:43424258 [GRCh38]
Chr1:43889929 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5603-11A>G |
single nucleotide variant |
not provided [RCV001773849] |
Chr1:43432978 [GRCh38]
Chr1:43898649 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.6592G>C (p.Val2198Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458093]|Inborn genetic diseases [RCV002541262]|not provided [RCV001787522] |
Chr1:43438782 [GRCh38]
Chr1:43904453 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7185A>G (p.Ser2395=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001815641] |
Chr1:43440023 [GRCh38]
Chr1:43905694 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.6331G>A (p.Asp2111Asn) |
single nucleotide variant |
not provided [RCV001815673] |
Chr1:43437635 [GRCh38]
Chr1:43903306 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2107A>T (p.Thr703Ser) |
single nucleotide variant |
not provided [RCV001758376] |
Chr1:43423168 [GRCh38]
Chr1:43888839 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3550A>C (p.Lys1184Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458088]|not provided [RCV001758808] |
Chr1:43427397 [GRCh38]
Chr1:43893068 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1488G>T (p.Thr496=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458094]|not provided [RCV001816055] |
Chr1:43420975 [GRCh38]
Chr1:43886646 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2135G>A (p.Gly712Glu) |
single nucleotide variant |
not provided [RCV001816056] |
Chr1:43423196 [GRCh38]
Chr1:43888867 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2158C>T (p.Pro720Ser) |
single nucleotide variant |
not provided [RCV001760936] |
Chr1:43423219 [GRCh38]
Chr1:43888890 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2251A>C (p.Ile751Leu) |
single nucleotide variant |
not provided [RCV001987878] |
Chr1:43423312 [GRCh38]
Chr1:43888983 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5778C>G (p.Asp1926Glu) |
single nucleotide variant |
not provided [RCV002025207] |
Chr1:43433164 [GRCh38]
Chr1:43898835 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2317C>G (p.Pro773Ala) |
single nucleotide variant |
not provided [RCV001912107] |
Chr1:43424278 [GRCh38]
Chr1:43889949 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5976T>A (p.Asp1992Glu) |
single nucleotide variant |
not provided [RCV002045290] |
Chr1:43435271 [GRCh38]
Chr1:43900942 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2924C>T (p.Ser975Phe) |
single nucleotide variant |
not provided [RCV001914595] |
Chr1:43425944 [GRCh38]
Chr1:43891615 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.185G>C (p.Ser62Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003493889]|not provided [RCV001896823] |
Chr1:43403632 [GRCh38]
Chr1:43869303 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4189G>A (p.Glu1397Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458116]|not provided [RCV002008276] |
Chr1:43429725 [GRCh38]
Chr1:43895396 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9749C>G (p.Pro3250Arg) |
single nucleotide variant |
not provided [RCV001864295] |
Chr1:43448264 [GRCh38]
Chr1:43913935 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7871A>C (p.Gln2624Pro) |
single nucleotide variant |
not provided [RCV001971671] |
Chr1:43442128 [GRCh38]
Chr1:43907799 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5744C>G (p.Pro1915Arg) |
single nucleotide variant |
not provided [RCV002008529] |
Chr1:43433130 [GRCh38]
Chr1:43898801 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9952G>A (p.Asp3318Asn) |
single nucleotide variant |
not provided [RCV001864309] |
Chr1:43448467 [GRCh38]
Chr1:43914138 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3932G>A (p.Ser1311Asn) |
single nucleotide variant |
not provided [RCV001950727] |
Chr1:43428252 [GRCh38]
Chr1:43893923 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) |
copy number gain |
not specified [RCV002052781] |
Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33 |
pathogenic |
| NM_001365999.1(SZT2):c.1957G>A (p.Val653Ile) |
single nucleotide variant |
not provided [RCV001893792] |
Chr1:43422803 [GRCh38]
Chr1:43888474 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5035C>G (p.Leu1679Val) |
single nucleotide variant |
not provided [RCV001971088] |
Chr1:43431470 [GRCh38]
Chr1:43897141 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.499-12T>G |
single nucleotide variant |
not provided [RCV002045304] |
Chr1:43415070 [GRCh38]
Chr1:43880741 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8845A>G (p.Met2949Val) |
single nucleotide variant |
not provided [RCV002007787] |
Chr1:43445913 [GRCh38]
Chr1:43911584 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1961G>A (p.Arg654His) |
single nucleotide variant |
not provided [RCV001873938] |
Chr1:43422807 [GRCh38]
Chr1:43888478 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8620G>A (p.Gly2874Arg) |
single nucleotide variant |
not provided [RCV001948190] |
Chr1:43443472 [GRCh38]
Chr1:43909143 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3329C>G (p.Thr1110Ser) |
single nucleotide variant |
not provided [RCV001889292] |
Chr1:43427075 [GRCh38]
Chr1:43892746 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8811dup (p.Ser2938fs) |
duplication |
not provided [RCV001929017] |
Chr1:43443776..43443777 [GRCh38]
Chr1:43909447..43909448 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.2356C>A (p.Leu786Met) |
single nucleotide variant |
not provided [RCV001929786] |
Chr1:43424317 [GRCh38]
Chr1:43889988 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2389C>T (p.Arg797Cys) |
single nucleotide variant |
not provided [RCV002004344] |
Chr1:43424350 [GRCh38]
Chr1:43890021 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4816C>T (p.Arg1606Ter) |
single nucleotide variant |
not provided [RCV001988009] |
Chr1:43430990 [GRCh38]
Chr1:43896661 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4167-9A>G |
single nucleotide variant |
not provided [RCV001949749] |
Chr1:43429694 [GRCh38]
Chr1:43895365 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5025-5A>G |
single nucleotide variant |
not provided [RCV001890095] |
Chr1:43431455 [GRCh38]
Chr1:43897126 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2591C>G (p.Thr864Ser) |
single nucleotide variant |
not provided [RCV001926417] |
Chr1:43425153 [GRCh38]
Chr1:43890824 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5666C>G (p.Ala1889Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458119]|Inborn genetic diseases [RCV002346295]|not provided [RCV002023357] |
Chr1:43433052 [GRCh38]
Chr1:43898723 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2068C>T (p.Arg690Trp) |
single nucleotide variant |
not provided [RCV001895874] |
Chr1:43423129 [GRCh38]
Chr1:43888800 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8224C>T (p.Arg2742Cys) |
single nucleotide variant |
not provided [RCV001988369] |
Chr1:43442891 [GRCh38]
Chr1:43908562 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.781G>A (p.Val261Met) |
single nucleotide variant |
not provided [RCV001908813] |
Chr1:43416543 [GRCh38]
Chr1:43882214 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7511+11G>A |
single nucleotide variant |
not provided [RCV001967495] |
Chr1:43441391 [GRCh38]
Chr1:43907062 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2785G>A (p.Asp929Asn) |
single nucleotide variant |
not provided [RCV002006977] |
Chr1:43425613 [GRCh38]
Chr1:43891284 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9389G>A (p.Arg3130Gln) |
single nucleotide variant |
not provided [RCV002044800] |
Chr1:43447647 [GRCh38]
Chr1:43913318 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4200T>G (p.Phe1400Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003326009]|not provided [RCV001988381] |
Chr1:43429736 [GRCh38]
Chr1:43895407 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001365999.1(SZT2):c.2123G>A (p.Arg708Gln) |
single nucleotide variant |
not provided [RCV001863904] |
Chr1:43423184 [GRCh38]
Chr1:43888855 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7169A>G (p.Gln2390Arg) |
single nucleotide variant |
not provided [RCV001863913] |
Chr1:43440007 [GRCh38]
Chr1:43905678 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.552G>T (p.Gln184His) |
single nucleotide variant |
not provided [RCV001864516] |
Chr1:43415135 [GRCh38]
Chr1:43880806 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2138G>A (p.Gly713Asp) |
single nucleotide variant |
not provided [RCV002043564] |
Chr1:43423199 [GRCh38]
Chr1:43888870 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7262G>C (p.Ser2421Thr) |
single nucleotide variant |
not provided [RCV002025839] |
Chr1:43440504 [GRCh38]
Chr1:43906175 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3713C>T (p.Pro1238Leu) |
single nucleotide variant |
not provided [RCV001896868] |
Chr1:43427644 [GRCh38]
Chr1:43893315 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5363G>A (p.Gly1788Asp) |
single nucleotide variant |
not provided [RCV001894911] |
Chr1:43432360 [GRCh38]
Chr1:43898031 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3581G>A (p.Ser1194Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458110]|Inborn genetic diseases [RCV002331456]|not provided [RCV001914280] |
Chr1:43427428 [GRCh38]
Chr1:43893099 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9604T>C (p.Phe3202Leu) |
single nucleotide variant |
not provided [RCV001928853] |
Chr1:43448119 [GRCh38]
Chr1:43913790 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7933C>G (p.Pro2645Ala) |
single nucleotide variant |
not provided [RCV001915158] |
Chr1:43442327 [GRCh38]
Chr1:43907998 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4012G>A (p.Asp1338Asn) |
single nucleotide variant |
not provided [RCV002045576] |
Chr1:43428332 [GRCh38]
Chr1:43894003 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6290+7G>A |
single nucleotide variant |
not provided [RCV002024851] |
Chr1:43437515 [GRCh38]
Chr1:43903186 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.256C>T (p.Arg86Trp) |
single nucleotide variant |
not provided [RCV001890907] |
Chr1:43403703 [GRCh38]
Chr1:43869374 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8375A>G (p.Tyr2792Cys) |
single nucleotide variant |
not provided [RCV002042670] |
Chr1:43443042 [GRCh38]
Chr1:43908713 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1643C>G (p.Pro548Arg) |
single nucleotide variant |
not provided [RCV002006650] |
Chr1:43422099 [GRCh38]
Chr1:43887770 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10039C>A (p.Gln3347Lys) |
single nucleotide variant |
not provided [RCV001890116] |
Chr1:43448681 [GRCh38]
Chr1:43914352 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458100]|SZT2-related condition [RCV003426232]|not provided [RCV001871069] |
Chr1:43437275 [GRCh38]
Chr1:43902946 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.7696A>C (p.Thr2566Pro) |
single nucleotide variant |
not provided [RCV001872235] |
Chr1:43441772 [GRCh38]
Chr1:43907443 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7957G>C (p.Glu2653Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458108]|Inborn genetic diseases [RCV002556417]|not provided [RCV001947733] |
Chr1:43442351 [GRCh38]
Chr1:43908022 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5082G>C (p.Met1694Ile) |
single nucleotide variant |
not provided [RCV001912585] |
Chr1:43431517 [GRCh38]
Chr1:43897188 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1960C>T (p.Arg654Cys) |
single nucleotide variant |
not provided [RCV001965469] |
Chr1:43422806 [GRCh38]
Chr1:43888477 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1457G>A (p.Arg486His) |
single nucleotide variant |
not provided [RCV001966477] |
Chr1:43420944 [GRCh38]
Chr1:43886615 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4438A>G (p.Ser1480Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458103]|SZT2-related condition [RCV003426239]|not provided [RCV001891723] |
Chr1:43430347 [GRCh38]
Chr1:43896018 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3435T>G (p.Asp1145Glu) |
single nucleotide variant |
not provided [RCV001889842] |
Chr1:43427282 [GRCh38]
Chr1:43892953 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9955A>G (p.Ile3319Val) |
single nucleotide variant |
not provided [RCV002040080] |
Chr1:43448470 [GRCh38]
Chr1:43914141 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002272539]|not provided [RCV001946831] |
Chr1:43441811 [GRCh38]
Chr1:43907482 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4678C>T (p.His1560Tyr) |
single nucleotide variant |
not provided [RCV001891875] |
Chr1:43430693 [GRCh38]
Chr1:43896364 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1465G>A (p.Val489Ile) |
single nucleotide variant |
not provided [RCV001908718] |
Chr1:43420952 [GRCh38]
Chr1:43886623 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6877+20_6877+36del |
deletion |
not provided [RCV001945774] |
Chr1:43439460..43439476 [GRCh38]
Chr1:43905131..43905147 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8116T>C (p.Tyr2706His) |
single nucleotide variant |
not provided [RCV002042457] |
Chr1:43442583 [GRCh38]
Chr1:43908254 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4415G>A (p.Arg1472Gln) |
single nucleotide variant |
not provided [RCV001983981] |
Chr1:43430324 [GRCh38]
Chr1:43895995 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9119T>C (p.Met3040Thr) |
single nucleotide variant |
not provided [RCV002002645] |
Chr1:43447001 [GRCh38]
Chr1:43912672 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7574T>G (p.Val2525Gly) |
single nucleotide variant |
not provided [RCV001964970] |
Chr1:43441566 [GRCh38]
Chr1:43907237 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5464G>A (p.Ala1822Thr) |
single nucleotide variant |
not provided [RCV001890458] |
Chr1:43432538 [GRCh38]
Chr1:43898209 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.116T>A (p.Leu39Gln) |
single nucleotide variant |
not provided [RCV001945896] |
Chr1:43403265 [GRCh38]
Chr1:43868936 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8582G>C (p.Trp2861Ser) |
single nucleotide variant |
not provided [RCV001911181] |
Chr1:43443434 [GRCh38]
Chr1:43909105 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5720C>T (p.Ser1907Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458095]|not provided [RCV002039576] |
Chr1:43433106 [GRCh38]
Chr1:43898777 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5681G>A (p.Arg1894Gln) |
single nucleotide variant |
not provided [RCV001946044] |
Chr1:43433067 [GRCh38]
Chr1:43898738 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7280_7281del (p.Pro2427fs) |
deletion |
not provided [RCV001890411] |
Chr1:43440522..43440523 [GRCh38]
Chr1:43906193..43906194 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.127G>A (p.Val43Met) |
single nucleotide variant |
not provided [RCV001911952] |
Chr1:43403276 [GRCh38]
Chr1:43868947 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3865G>A (p.Ala1289Thr) |
single nucleotide variant |
not provided [RCV001911391] |
Chr1:43428064 [GRCh38]
Chr1:43893735 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8420-13C>G |
single nucleotide variant |
not provided [RCV001847441] |
Chr1:43443175 [GRCh38]
Chr1:43908846 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity |
| NM_001365999.1(SZT2):c.8900C>G (p.Thr2967Ser) |
single nucleotide variant |
not provided [RCV002006418] |
Chr1:43445968 [GRCh38]
Chr1:43911639 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7285C>T (p.Pro2429Ser) |
single nucleotide variant |
not provided [RCV001949073] |
Chr1:43440527 [GRCh38]
Chr1:43906198 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5421_5422dup (p.Ala1808fs) |
duplication |
not provided [RCV001946680] |
Chr1:43432416..43432417 [GRCh38]
Chr1:43898087..43898088 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1814A>G (p.Tyr605Cys) |
single nucleotide variant |
not provided [RCV001926380] |
Chr1:43422524 [GRCh38]
Chr1:43888195 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9539G>A (p.Gly3180Glu) |
single nucleotide variant |
not provided [RCV001914279] |
Chr1:43447947 [GRCh38]
Chr1:43913618 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4633A>G (p.Ser1545Gly) |
single nucleotide variant |
not provided [RCV001909866] |
Chr1:43430648 [GRCh38]
Chr1:43896319 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.605A>T (p.Gln202Leu) |
single nucleotide variant |
not provided [RCV001967283] |
Chr1:43415188 [GRCh38]
Chr1:43880859 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7540G>A (p.Glu2514Lys) |
single nucleotide variant |
not provided [RCV002021984] |
Chr1:43441532 [GRCh38]
Chr1:43907203 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2579A>C (p.Glu860Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458112]|Inborn genetic diseases [RCV003170078]|not provided [RCV001987616] |
Chr1:43425141 [GRCh38]
Chr1:43890812 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.338C>T (p.Thr113Ile) |
single nucleotide variant |
not provided [RCV001872969] |
Chr1:43404390 [GRCh38]
Chr1:43870061 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6627+2T>G |
single nucleotide variant |
not provided [RCV001983442] |
Chr1:43438819 [GRCh38]
Chr1:43904490 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.337A>T (p.Thr113Ser) |
single nucleotide variant |
not provided [RCV001983581] |
Chr1:43404389 [GRCh38]
Chr1:43870060 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9946A>T (p.Ile3316Phe) |
single nucleotide variant |
not provided [RCV001948010] |
Chr1:43448461 [GRCh38]
Chr1:43914132 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6040G>A (p.Ala2014Thr) |
single nucleotide variant |
not provided [RCV001948534] |
Chr1:43437176 [GRCh38]
Chr1:43902847 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9497C>G (p.Ser3166Cys) |
single nucleotide variant |
not provided [RCV001949186] |
Chr1:43447905 [GRCh38]
Chr1:43913576 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4553A>C (p.Glu1518Ala) |
single nucleotide variant |
not provided [RCV002022437] |
Chr1:43430568 [GRCh38]
Chr1:43896239 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7320C>T (p.Gly2440=) |
single nucleotide variant |
not provided [RCV001912902] |
Chr1:43440562 [GRCh38]
Chr1:43906233 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.5274+3A>G |
single nucleotide variant |
not provided [RCV002007936] |
Chr1:43431904 [GRCh38]
Chr1:43897575 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6322T>C (p.Trp2108Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458101]|not provided [RCV001892617] |
Chr1:43437626 [GRCh38]
Chr1:43903297 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3670G>A (p.Ala1224Thr) |
single nucleotide variant |
not provided [RCV002023380] |
Chr1:43427601 [GRCh38]
Chr1:43893272 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2989G>A (p.Gly997Arg) |
single nucleotide variant |
not provided [RCV001871288] |
Chr1:43426097 [GRCh38]
Chr1:43891768 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4940C>T (p.Ser1647Leu) |
single nucleotide variant |
not provided [RCV002021192] |
Chr1:43431288 [GRCh38]
Chr1:43896959 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7100T>A (p.Ile2367Asn) |
single nucleotide variant |
not provided [RCV001894838] |
Chr1:43439938 [GRCh38]
Chr1:43905609 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6085A>G (p.Met2029Val) |
single nucleotide variant |
not provided [RCV001970007] |
Chr1:43437221 [GRCh38]
Chr1:43902892 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6437C>T (p.Ser2146Leu) |
single nucleotide variant |
not provided [RCV002041135] |
Chr1:43437831 [GRCh38]
Chr1:43903502 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8865G>C (p.Glu2955Asp) |
single nucleotide variant |
not provided [RCV001892198] |
Chr1:43445933 [GRCh38]
Chr1:43911604 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4687C>T (p.Pro1563Ser) |
single nucleotide variant |
not provided [RCV002007023] |
Chr1:43430702 [GRCh38]
Chr1:43896373 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6361C>T (p.Arg2121Ter) |
single nucleotide variant |
not provided [RCV001949377] |
Chr1:43437665 [GRCh38]
Chr1:43903336 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.2372G>A (p.Arg791His) |
single nucleotide variant |
not provided [RCV001909299] |
Chr1:43424333 [GRCh38]
Chr1:43890004 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8225G>A (p.Arg2742His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458106]|Inborn genetic diseases [RCV002423023]|not provided [RCV001909585] |
Chr1:43442892 [GRCh38]
Chr1:43908563 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5213G>A (p.Arg1738His) |
single nucleotide variant |
not provided [RCV001892264] |
Chr1:43431840 [GRCh38]
Chr1:43897511 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2550+5G>C |
single nucleotide variant |
not provided [RCV001948634] |
Chr1:43424867 [GRCh38]
Chr1:43890538 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4549C>T (p.Arg1517Cys) |
single nucleotide variant |
not provided [RCV001985115] |
Chr1:43430564 [GRCh38]
Chr1:43896235 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5561G>C (p.Ser1854Thr) |
single nucleotide variant |
not provided [RCV002023893] |
Chr1:43432758 [GRCh38]
Chr1:43898429 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4641G>T (p.Leu1547Phe) |
single nucleotide variant |
not provided [RCV001927772] |
Chr1:43430656 [GRCh38]
Chr1:43896327 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2146G>A (p.Gly716Arg) |
single nucleotide variant |
not provided [RCV001986611] |
Chr1:43423207 [GRCh38]
Chr1:43888878 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4621G>A (p.Glu1541Lys) |
single nucleotide variant |
not provided [RCV001984351] |
Chr1:43430636 [GRCh38]
Chr1:43896307 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9472C>G (p.Arg3158Gly) |
single nucleotide variant |
not provided [RCV001889480] |
Chr1:43447880 [GRCh38]
Chr1:43913551 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5164C>T (p.Arg1722Cys) |
single nucleotide variant |
not provided [RCV001964284] |
Chr1:43431791 [GRCh38]
Chr1:43897462 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5288T>A (p.Leu1763His) |
single nucleotide variant |
not provided [RCV001912242] |
Chr1:43432285 [GRCh38]
Chr1:43897956 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6506C>A (p.Ala2169Glu) |
single nucleotide variant |
not provided [RCV001964385] |
Chr1:43437900 [GRCh38]
Chr1:43903571 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7325G>T (p.Arg2442Leu) |
single nucleotide variant |
not provided [RCV001945065] |
Chr1:43440567 [GRCh38]
Chr1:43906238 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2504G>A (p.Cys835Tyr) |
single nucleotide variant |
not provided [RCV001872196] |
Chr1:43424816 [GRCh38]
Chr1:43890487 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3601A>G (p.Asn1201Asp) |
single nucleotide variant |
not provided [RCV001948244] |
Chr1:43427532 [GRCh38]
Chr1:43893203 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4104C>G (p.Phe1368Leu) |
single nucleotide variant |
not provided [RCV001965162] |
Chr1:43428424 [GRCh38]
Chr1:43894095 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7742+3G>T |
single nucleotide variant |
not provided [RCV001969647] |
Chr1:43441821 [GRCh38]
Chr1:43907492 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9544G>A (p.Ala3182Thr) |
single nucleotide variant |
not provided [RCV001948285] |
Chr1:43447952 [GRCh38]
Chr1:43913623 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8671A>G (p.Thr2891Ala) |
single nucleotide variant |
not provided [RCV002022460] |
Chr1:43443642 [GRCh38]
Chr1:43909313 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1154T>C (p.Leu385Ser) |
single nucleotide variant |
not provided [RCV001966668] |
Chr1:43420216 [GRCh38]
Chr1:43885887 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7060C>T (p.Arg2354Trp) |
single nucleotide variant |
not provided [RCV002003353] |
Chr1:43439898 [GRCh38]
Chr1:43905569 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1249_1250delinsCA (p.Thr417Gln) |
indel |
not provided [RCV001870420] |
Chr1:43420311..43420312 [GRCh38]
Chr1:43885982..43885983 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8264G>A (p.Gly2755Asp) |
single nucleotide variant |
not provided [RCV001981550] |
Chr1:43442931 [GRCh38]
Chr1:43908602 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1796dup (p.Ser601fs) |
duplication |
not provided [RCV001999734] |
Chr1:43422502..43422503 [GRCh38]
Chr1:43888173..43888174 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3217G>A (p.Ala1073Thr) |
single nucleotide variant |
not provided [RCV002001148] |
Chr1:43426717 [GRCh38]
Chr1:43892388 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1979del (p.Pro660fs) |
deletion |
not provided [RCV001942667] |
Chr1:43422822 [GRCh38]
Chr1:43888493 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.763T>G (p.Ser255Ala) |
single nucleotide variant |
not provided [RCV001980493] |
Chr1:43416092 [GRCh38]
Chr1:43881763 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7873+18G>T |
single nucleotide variant |
not provided [RCV002030774] |
Chr1:43442148 [GRCh38]
Chr1:43907819 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.9824G>A (p.Arg3275Gln) |
single nucleotide variant |
not provided [RCV001880292] |
Chr1:43448339 [GRCh38]
Chr1:43914010 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5161C>A (p.His1721Asn) |
single nucleotide variant |
not provided [RCV002019245] |
Chr1:43431788 [GRCh38]
Chr1:43897459 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5974G>A (p.Asp1992Asn) |
single nucleotide variant |
not provided [RCV001887694] |
Chr1:43435269 [GRCh38]
Chr1:43900940 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1663C>T (p.His555Tyr) |
single nucleotide variant |
not provided [RCV001944452] |
Chr1:43422119 [GRCh38]
Chr1:43887790 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3218C>T (p.Ala1073Val) |
single nucleotide variant |
not provided [RCV002026950] |
Chr1:43426718 [GRCh38]
Chr1:43892389 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2237T>G (p.Leu746Arg) |
single nucleotide variant |
not provided [RCV002014348] |
Chr1:43423298 [GRCh38]
Chr1:43888969 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2029C>T (p.Arg677Trp) |
single nucleotide variant |
not provided [RCV001901877] |
Chr1:43422875 [GRCh38]
Chr1:43888546 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.526C>T (p.Pro176Ser) |
single nucleotide variant |
not provided [RCV001962460] |
Chr1:43415109 [GRCh38]
Chr1:43880780 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7080G>A (p.Trp2360Ter) |
single nucleotide variant |
not provided [RCV002037688] |
Chr1:43439918 [GRCh38]
Chr1:43905589 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8129A>T (p.Asp2710Val) |
single nucleotide variant |
not provided [RCV001942351] |
Chr1:43442596 [GRCh38]
Chr1:43908267 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3223G>T (p.Gly1075Trp) |
single nucleotide variant |
not provided [RCV001975579] |
Chr1:43426723 [GRCh38]
Chr1:43892394 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9073-11T>C |
single nucleotide variant |
not provided [RCV001885885] |
Chr1:43446944 [GRCh38]
Chr1:43912615 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8323C>T (p.Arg2775Cys) |
single nucleotide variant |
not provided [RCV001887768] |
Chr1:43442990 [GRCh38]
Chr1:43908661 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6820C>G (p.Pro2274Ala) |
single nucleotide variant |
not provided [RCV001961798] |
Chr1:43439385 [GRCh38]
Chr1:43905056 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8285del (p.Phe2762fs) |
deletion |
not provided [RCV001886646] |
Chr1:43442951 [GRCh38]
Chr1:43908622 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1364G>A (p.Arg455Gln) |
single nucleotide variant |
not provided [RCV001963360] |
Chr1:43420851 [GRCh38]
Chr1:43886522 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6328G>A (p.Gly2110Arg) |
single nucleotide variant |
not provided [RCV001888481] |
Chr1:43437632 [GRCh38]
Chr1:43903303 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3481G>A (p.Glu1161Lys) |
single nucleotide variant |
not provided [RCV002037210] |
Chr1:43427328 [GRCh38]
Chr1:43892999 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9564-3C>T |
single nucleotide variant |
not provided [RCV001887348] |
Chr1:43448076 [GRCh38]
Chr1:43913747 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.631-4G>C |
single nucleotide variant |
not provided [RCV002051263] |
Chr1:43415956 [GRCh38]
Chr1:43881627 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4774+13C>T |
single nucleotide variant |
not provided [RCV002037088] |
Chr1:43430802 [GRCh38]
Chr1:43896473 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.9547G>A (p.Glu3183Lys) |
single nucleotide variant |
not provided [RCV001935743] |
Chr1:43447955 [GRCh38]
Chr1:43913626 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7868A>G (p.Gln2623Arg) |
single nucleotide variant |
not provided [RCV002000567] |
Chr1:43442125 [GRCh38]
Chr1:43907796 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2255+6T>C |
single nucleotide variant |
not provided [RCV001887450] |
Chr1:43423322 [GRCh38]
Chr1:43888993 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8318C>T (p.Ala2773Val) |
single nucleotide variant |
not provided [RCV002039123] |
Chr1:43442985 [GRCh38]
Chr1:43908656 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8141G>A (p.Arg2714Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458096]|Inborn genetic diseases [RCV002550327]|not provided [RCV001942508] |
Chr1:43442608 [GRCh38]
Chr1:43908279 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5866G>A (p.Val1956Met) |
single nucleotide variant |
not provided [RCV001976044] |
Chr1:43434447 [GRCh38]
Chr1:43900118 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4237C>A (p.Pro1413Thr) |
single nucleotide variant |
not provided [RCV001934452] |
Chr1:43429773 [GRCh38]
Chr1:43895444 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3929G>A (p.Arg1310His) |
single nucleotide variant |
not provided [RCV002015200] |
Chr1:43428249 [GRCh38]
Chr1:43893920 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4177G>A (p.Glu1393Lys) |
single nucleotide variant |
not provided [RCV001887899] |
Chr1:43429713 [GRCh38]
Chr1:43895384 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2114A>G (p.Lys705Arg) |
single nucleotide variant |
not provided [RCV001942527] |
Chr1:43423175 [GRCh38]
Chr1:43888846 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5016_5021del (p.Glu1673_Glu1674del) |
deletion |
not provided [RCV002009817] |
Chr1:43431362..43431367 [GRCh38]
Chr1:43897033..43897038 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.9030G>A (p.Leu3010=) |
single nucleotide variant |
not provided [RCV001879580] |
Chr1:43446374 [GRCh38]
Chr1:43912045 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8094_8095dup (p.Lys2699fs) |
duplication |
not provided [RCV001941607] |
Chr1:43442559..43442560 [GRCh38]
Chr1:43908230..43908231 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.2909C>G (p.Pro970Arg) |
single nucleotide variant |
not provided [RCV001936131] |
Chr1:43425929 [GRCh38]
Chr1:43891600 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4899G>A (p.Ser1633=) |
single nucleotide variant |
not provided [RCV001906998] |
Chr1:43431073 [GRCh38]
Chr1:43896744 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.292A>T (p.Ile98Phe) |
single nucleotide variant |
not provided [RCV001981834] |
Chr1:43403739 [GRCh38]
Chr1:43869410 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3604G>T (p.Ala1202Ser) |
single nucleotide variant |
not provided [RCV001974962] |
Chr1:43427535 [GRCh38]
Chr1:43893206 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5252G>A (p.Arg1751His) |
single nucleotide variant |
not provided [RCV002038802] |
Chr1:43431879 [GRCh38]
Chr1:43897550 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8300C>T (p.Ala2767Val) |
single nucleotide variant |
not provided [RCV001943661] |
Chr1:43442967 [GRCh38]
Chr1:43908638 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2821C>G (p.Pro941Ala) |
single nucleotide variant |
not provided [RCV001980075] |
Chr1:43425841 [GRCh38]
Chr1:43891512 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7321C>T (p.Arg2441Trp) |
single nucleotide variant |
not provided [RCV002012753] |
Chr1:43440563 [GRCh38]
Chr1:43906234 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.126T>G (p.Thr42=) |
single nucleotide variant |
not provided [RCV002037660] |
Chr1:43403275 [GRCh38]
Chr1:43868946 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1765G>T (p.Asp589Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458113]|not provided [RCV001958174] |
Chr1:43422221 [GRCh38]
Chr1:43887892 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2708A>G (p.Asn903Ser) |
single nucleotide variant |
not provided [RCV002030478] |
Chr1:43425536 [GRCh38]
Chr1:43891207 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2167T>A (p.Ser723Thr) |
single nucleotide variant |
not provided [RCV001878668] |
Chr1:43423228 [GRCh38]
Chr1:43888899 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8780T>C (p.Ile2927Thr) |
single nucleotide variant |
not provided [RCV002014311] |
Chr1:43443751 [GRCh38]
Chr1:43909422 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8197A>G (p.Ile2733Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458114]|Inborn genetic diseases [RCV002569186]|not provided [RCV001954406] |
Chr1:43442864 [GRCh38]
Chr1:43908535 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1767C>A (p.Asp589Glu) |
single nucleotide variant |
not provided [RCV001917966] |
Chr1:43422223 [GRCh38]
Chr1:43887894 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.505G>A (p.Val169Ile) |
single nucleotide variant |
not provided [RCV002031060] |
Chr1:43415088 [GRCh38]
Chr1:43880759 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1183G>A (p.Val395Met) |
single nucleotide variant |
not provided [RCV002013002] |
Chr1:43420245 [GRCh38]
Chr1:43885916 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10291CTC[1] (p.Leu3432del) |
microsatellite |
not provided [RCV001902584] |
Chr1:43450471..43450473 [GRCh38]
Chr1:43916142..43916144 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7123C>T (p.Arg2375Ter) |
single nucleotide variant |
not provided [RCV001898159] |
Chr1:43439961 [GRCh38]
Chr1:43905632 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8663A>G (p.Glu2888Gly) |
single nucleotide variant |
not provided [RCV001991308] |
Chr1:43443634 [GRCh38]
Chr1:43909305 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6290+3A>G |
single nucleotide variant |
not provided [RCV001880612] |
Chr1:43437511 [GRCh38]
Chr1:43903182 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4550G>A (p.Arg1517His) |
single nucleotide variant |
not provided [RCV001881735] |
Chr1:43430565 [GRCh38]
Chr1:43896236 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=) |
single nucleotide variant |
Inborn genetic diseases [RCV002370531]|not provided [RCV001916908]|not specified [RCV003401893] |
Chr1:43439747 [GRCh38]
Chr1:43905418 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8797C>G (p.Pro2933Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458111]|Inborn genetic diseases [RCV003365585]|not provided [RCV001934307] |
Chr1:43443768 [GRCh38]
Chr1:43909439 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1261+9C>T |
single nucleotide variant |
not provided [RCV001956067] |
Chr1:43420332 [GRCh38]
Chr1:43886003 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4915C>T (p.Arg1639Trp) |
single nucleotide variant |
not provided [RCV002015785] |
Chr1:43431089 [GRCh38]
Chr1:43896760 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5074_5088+5dup |
duplication |
not provided [RCV001879307] |
Chr1:43431504..43431505 [GRCh38]
Chr1:43897175..43897176 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9073-8C>A |
single nucleotide variant |
not provided [RCV001990378] |
Chr1:43446947 [GRCh38]
Chr1:43912618 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7184C>T (p.Ser2395Leu) |
single nucleotide variant |
not provided [RCV002049934] |
Chr1:43440022 [GRCh38]
Chr1:43905693 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1024C>T (p.His342Tyr) |
single nucleotide variant |
not provided [RCV001973427] |
Chr1:43419878 [GRCh38]
Chr1:43885549 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9441-3C>G |
single nucleotide variant |
not provided [RCV002011076] |
Chr1:43447846 [GRCh38]
Chr1:43913517 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7954C>A (p.Leu2652Ile) |
single nucleotide variant |
not provided [RCV001915814] |
Chr1:43442348 [GRCh38]
Chr1:43908019 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1261+1G>A |
single nucleotide variant |
not provided [RCV001989080] |
Chr1:43420324 [GRCh38]
Chr1:43885995 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.2027C>T (p.Ala676Val) |
single nucleotide variant |
not provided [RCV002050025] |
Chr1:43422873 [GRCh38]
Chr1:43888544 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5440del (p.Glu1814fs) |
deletion |
not provided [RCV001978910] |
Chr1:43432434 [GRCh38]
Chr1:43898105 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.6566C>T (p.Thr2189Met) |
single nucleotide variant |
not provided [RCV001937321] |
Chr1:43438756 [GRCh38]
Chr1:43904427 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4498T>C (p.Cys1500Arg) |
single nucleotide variant |
not provided [RCV001897369] |
Chr1:43430513 [GRCh38]
Chr1:43896184 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4117G>C (p.Glu1373Gln) |
single nucleotide variant |
not provided [RCV001937380] |
Chr1:43428437 [GRCh38]
Chr1:43894108 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6311G>A (p.Ser2104Asn) |
single nucleotide variant |
not provided [RCV001878208] |
Chr1:43437615 [GRCh38]
Chr1:43903286 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8C>T (p.Ser3Leu) |
single nucleotide variant |
not provided [RCV001870009] |
Chr1:43389976 [GRCh38]
Chr1:43855647 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7372T>C (p.Ser2458Pro) |
single nucleotide variant |
not provided [RCV001976136] |
Chr1:43441241 [GRCh38]
Chr1:43906912 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7900C>G (p.Pro2634Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458097]|Inborn genetic diseases [RCV002397809]|not provided [RCV001865172] |
Chr1:43442294 [GRCh38]
Chr1:43907965 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8035G>A (p.Val2679Ile) |
single nucleotide variant |
not provided [RCV002014092] |
Chr1:43442502 [GRCh38]
Chr1:43908173 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.296A>T (p.Glu99Val) |
single nucleotide variant |
not provided [RCV001904232] |
Chr1:43403743 [GRCh38]
Chr1:43869414 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9753G>A (p.Leu3251=) |
single nucleotide variant |
not provided [RCV002010125] |
Chr1:43448268 [GRCh38]
Chr1:43913939 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.725G>A (p.Arg242His) |
single nucleotide variant |
not provided [RCV001867116] |
Chr1:43416054 [GRCh38]
Chr1:43881725 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7547G>A (p.Gly2516Glu) |
single nucleotide variant |
not provided [RCV001954274] |
Chr1:43441539 [GRCh38]
Chr1:43907210 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8212C>G (p.Pro2738Ala) |
single nucleotide variant |
not provided [RCV002046797] |
Chr1:43442879 [GRCh38]
Chr1:43908550 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1207G>C (p.Val403Leu) |
single nucleotide variant |
not provided [RCV001878721] |
Chr1:43420269 [GRCh38]
Chr1:43885940 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.874G>C (p.Val292Leu) |
single nucleotide variant |
not provided [RCV001953018] |
Chr1:43416636 [GRCh38]
Chr1:43882307 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7324C>T (p.Arg2442Cys) |
single nucleotide variant |
not provided [RCV001998232] |
Chr1:43440566 [GRCh38]
Chr1:43906237 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2786A>G (p.Asp929Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458104]|not provided [RCV001939724] |
Chr1:43425614 [GRCh38]
Chr1:43891285 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1882G>T (p.Val628Leu) |
single nucleotide variant |
not provided [RCV001906946] |
Chr1:43422592 [GRCh38]
Chr1:43888263 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.527C>G (p.Pro176Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458115]|Inborn genetic diseases [RCV002571249]|not provided [RCV001993790] |
Chr1:43415110 [GRCh38]
Chr1:43880781 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5434G>A (p.Glu1812Lys) |
single nucleotide variant |
not provided [RCV002027111] |
Chr1:43432431 [GRCh38]
Chr1:43898102 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8997G>C (p.Gln2999His) |
single nucleotide variant |
not provided [RCV001932593] |
Chr1:43446259 [GRCh38]
Chr1:43911930 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5138G>A (p.Gly1713Asp) |
single nucleotide variant |
not provided [RCV001867432] |
Chr1:43431765 [GRCh38]
Chr1:43897436 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8761G>A (p.Val2921Met) |
single nucleotide variant |
not provided [RCV002018328] |
Chr1:43443732 [GRCh38]
Chr1:43909403 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2135G>C (p.Gly712Ala) |
single nucleotide variant |
not provided [RCV002035668] |
Chr1:43423196 [GRCh38]
Chr1:43888867 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1234A>G (p.Ser412Gly) |
single nucleotide variant |
not provided [RCV001876490] |
Chr1:43420296 [GRCh38]
Chr1:43885967 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2035A>C (p.Lys679Gln) |
single nucleotide variant |
not provided [RCV001953317] |
Chr1:43422881 [GRCh38]
Chr1:43888552 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1734C>A (p.His578Gln) |
single nucleotide variant |
not provided [RCV002010816] |
Chr1:43422190 [GRCh38]
Chr1:43887861 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1006C>A (p.Leu336Met) |
single nucleotide variant |
not provided [RCV001919503] |
Chr1:43419860 [GRCh38]
Chr1:43885531 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4352C>T (p.Pro1451Leu) |
single nucleotide variant |
not provided [RCV001900895] |
Chr1:43430054 [GRCh38]
Chr1:43895725 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5828G>A (p.Gly1943Glu) |
single nucleotide variant |
not provided [RCV001904068] |
Chr1:43434409 [GRCh38]
Chr1:43900080 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9847T>G (p.Phe3283Val) |
single nucleotide variant |
not provided [RCV001938616] |
Chr1:43448362 [GRCh38]
Chr1:43914033 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.82C>T (p.Arg28Ter) |
single nucleotide variant |
not provided [RCV001939895] |
Chr1:43403231 [GRCh38]
Chr1:43868902 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7609+16_7609+41dup |
duplication |
not provided [RCV001866422] |
Chr1:43441606..43441607 [GRCh38]
Chr1:43907277..43907278 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8054A>G (p.Gln2685Arg) |
single nucleotide variant |
not provided [RCV001954856] |
Chr1:43442521 [GRCh38]
Chr1:43908192 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.642G>C (p.Gln214His) |
single nucleotide variant |
not provided [RCV001980197] |
Chr1:43415971 [GRCh38]
Chr1:43881642 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8500-18A>C |
single nucleotide variant |
not provided [RCV001957073] |
Chr1:43443334 [GRCh38]
Chr1:43909005 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1402G>A (p.Asp468Asn) |
single nucleotide variant |
not provided [RCV001923524] |
Chr1:43420889 [GRCh38]
Chr1:43886560 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.997C>T (p.Pro333Ser) |
single nucleotide variant |
not provided [RCV001982001] |
Chr1:43419851 [GRCh38]
Chr1:43885522 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1762C>T (p.His588Tyr) |
single nucleotide variant |
not provided [RCV001879425] |
Chr1:43422218 [GRCh38]
Chr1:43887889 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.829A>T (p.Thr277Ser) |
single nucleotide variant |
not provided [RCV001901128] |
Chr1:43416591 [GRCh38]
Chr1:43882262 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4069C>T (p.Pro1357Ser) |
single nucleotide variant |
not provided [RCV001923571] |
Chr1:43428389 [GRCh38]
Chr1:43894060 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2964_2966dup (p.Glu988_Ile989insMet) |
duplication |
not provided [RCV001991714] |
Chr1:43426071..43426072 [GRCh38]
Chr1:43891742..43891743 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9842G>A (p.Arg3281His) |
single nucleotide variant |
not provided [RCV002032229] |
Chr1:43448357 [GRCh38]
Chr1:43914028 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4957_4965del (p.Gly1653_Pro1655del) |
deletion |
not provided [RCV001898724] |
Chr1:43431302..43431310 [GRCh38]
Chr1:43896973..43896981 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4141C>T (p.Arg1381Ter) |
single nucleotide variant |
not provided [RCV001993181] |
Chr1:43428461 [GRCh38]
Chr1:43894132 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7743-3T>C |
single nucleotide variant |
not provided [RCV002032285] |
Chr1:43441997 [GRCh38]
Chr1:43907668 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6448C>T (p.Arg2150Cys) |
single nucleotide variant |
not provided [RCV001991938] |
Chr1:43437842 [GRCh38]
Chr1:43903513 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7154C>G (p.Ala2385Gly) |
single nucleotide variant |
not provided [RCV002013812] |
Chr1:43439992 [GRCh38]
Chr1:43905663 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6086T>C (p.Met2029Thr) |
single nucleotide variant |
not provided [RCV001972213] |
Chr1:43437222 [GRCh38]
Chr1:43902893 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8588A>C (p.His2863Pro) |
single nucleotide variant |
not provided [RCV001981026] |
Chr1:43443440 [GRCh38]
Chr1:43909111 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1898A>G (p.Tyr633Cys) |
single nucleotide variant |
not provided [RCV002031539] |
Chr1:43422608 [GRCh38]
Chr1:43888279 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.535C>T (p.Arg179Trp) |
single nucleotide variant |
not provided [RCV002017484] |
Chr1:43415118 [GRCh38]
Chr1:43880789 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.348C>G (p.Ile116Met) |
single nucleotide variant |
not provided [RCV002029260] |
Chr1:43404400 [GRCh38]
Chr1:43870071 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3020T>A (p.Met1007Lys) |
single nucleotide variant |
not provided [RCV002033574] |
Chr1:43426128 [GRCh38]
Chr1:43891799 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4541G>T (p.Arg1514Leu) |
single nucleotide variant |
not provided [RCV002049217] |
Chr1:43430556 [GRCh38]
Chr1:43896227 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.380G>A (p.Arg127His) |
single nucleotide variant |
not provided [RCV002012151] |
Chr1:43404432 [GRCh38]
Chr1:43870103 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7796C>G (p.Ser2599Cys) |
single nucleotide variant |
not provided [RCV002017229] |
Chr1:43442053 [GRCh38]
Chr1:43907724 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8615C>G (p.Pro2872Arg) |
single nucleotide variant |
not provided [RCV001923894] |
Chr1:43443467 [GRCh38]
Chr1:43909138 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9758C>T (p.Ala3253Val) |
single nucleotide variant |
not provided [RCV002049467] |
Chr1:43448273 [GRCh38]
Chr1:43913944 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6878-18C>G |
single nucleotide variant |
not provided [RCV001994289] |
Chr1:43439587 [GRCh38]
Chr1:43905258 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7270C>T (p.Pro2424Ser) |
single nucleotide variant |
not provided [RCV001906228] |
Chr1:43440512 [GRCh38]
Chr1:43906183 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3946_3947del (p.Gln1316fs) |
microsatellite |
not provided [RCV001960717] |
Chr1:43428264..43428265 [GRCh38]
Chr1:43893935..43893936 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.409C>T (p.Arg137Ter) |
single nucleotide variant |
not provided [RCV001960718] |
Chr1:43404461 [GRCh38]
Chr1:43870132 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1484A>G (p.Asn495Ser) |
single nucleotide variant |
not provided [RCV002035056] |
Chr1:43420971 [GRCh38]
Chr1:43886642 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4751T>C (p.Val1584Ala) |
single nucleotide variant |
not provided [RCV001924817] |
Chr1:43430766 [GRCh38]
Chr1:43896437 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8848G>T (p.Ala2950Ser) |
single nucleotide variant |
not provided [RCV002018574] |
Chr1:43445916 [GRCh38]
Chr1:43911587 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5995C>A (p.Pro1999Thr) |
single nucleotide variant |
not provided [RCV001938603] |
Chr1:43435290 [GRCh38]
Chr1:43900961 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5595C>G (p.Asp1865Glu) |
single nucleotide variant |
not provided [RCV001886169] |
Chr1:43432792 [GRCh38]
Chr1:43898463 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NC_000001.10:g.(?_42922237)_(44395893_?)del |
deletion |
not provided [RCV001939188] |
Chr1:42922237..44395893 [GRCh37]
Chr1:1p34.2-34.1 |
pathogenic |
| NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002507030]|not provided [RCV001940143] |
Chr1:43427571 [GRCh38]
Chr1:43893242 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.8629C>T (p.Arg2877Cys) |
single nucleotide variant |
not provided [RCV001938212] |
Chr1:43443600 [GRCh38]
Chr1:43909271 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7275del (p.Ala2426fs) |
deletion |
not provided [RCV001939345] |
Chr1:43440517 [GRCh38]
Chr1:43906188 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8261G>A (p.Gly2754Glu) |
single nucleotide variant |
not provided [RCV001999188] |
Chr1:43442928 [GRCh38]
Chr1:43908599 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.805G>T (p.Val269Leu) |
single nucleotide variant |
not provided [RCV002027094] |
Chr1:43416567 [GRCh38]
Chr1:43882238 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4642G>T (p.Gly1548Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458098]|Inborn genetic diseases [RCV002331378]|not provided [RCV001867844] |
Chr1:43430657 [GRCh38]
Chr1:43896328 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9059C>T (p.Ala3020Val) |
single nucleotide variant |
not provided [RCV001885674] |
Chr1:43446403 [GRCh38]
Chr1:43912074 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8833C>T (p.Arg2945Trp) |
single nucleotide variant |
not provided [RCV002009591] |
Chr1:43445901 [GRCh38]
Chr1:43911572 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2951C>T (p.Thr984Ile) |
single nucleotide variant |
not provided [RCV001973821] |
Chr1:43426059 [GRCh38]
Chr1:43891730 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3641G>A (p.Arg1214Gln) |
single nucleotide variant |
not provided [RCV002015128] |
Chr1:43427572 [GRCh38]
Chr1:43893243 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2447C>A (p.Ala816Asp) |
single nucleotide variant |
not provided [RCV002027136] |
Chr1:43424408 [GRCh38]
Chr1:43890079 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2207G>A (p.Arg736Gln) |
single nucleotide variant |
not provided [RCV001867215] |
Chr1:43423268 [GRCh38]
Chr1:43888939 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.14G>C (p.Arg5Pro) |
single nucleotide variant |
not provided [RCV001954732] |
Chr1:43389982 [GRCh38]
Chr1:43855653 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9523C>G (p.Pro3175Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458109]|Inborn genetic diseases [RCV003382725]|not provided [RCV001952223] |
Chr1:43447931 [GRCh38]
Chr1:43913602 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7609+3G>A |
single nucleotide variant |
not provided [RCV001989147] |
Chr1:43441604 [GRCh38]
Chr1:43907275 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9482A>C (p.Asp3161Ala) |
single nucleotide variant |
not provided [RCV001973319] |
Chr1:43447890 [GRCh38]
Chr1:43913561 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3556A>G (p.Thr1186Ala) |
single nucleotide variant |
not provided [RCV002027404] |
Chr1:43427403 [GRCh38]
Chr1:43893074 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7877C>T (p.Ala2626Val) |
single nucleotide variant |
not provided [RCV001934240] |
Chr1:43442271 [GRCh38]
Chr1:43907942 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1159C>T (p.Arg387Trp) |
single nucleotide variant |
not provided [RCV001979044] |
Chr1:43420221 [GRCh38]
Chr1:43885892 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9715A>C (p.Ile3239Leu) |
single nucleotide variant |
not provided [RCV002028450] |
Chr1:43448230 [GRCh38]
Chr1:43913901 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7802G>C (p.Arg2601Pro) |
single nucleotide variant |
not provided [RCV001955009] |
Chr1:43442059 [GRCh38]
Chr1:43907730 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3537A>G (p.Gly1179=) |
single nucleotide variant |
not provided [RCV002031914] |
Chr1:43427384 [GRCh38]
Chr1:43893055 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3019A>T (p.Met1007Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002482438]|not provided [RCV002049249] |
Chr1:43426127 [GRCh38]
Chr1:43891798 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9287G>C (p.Gly3096Ala) |
single nucleotide variant |
not provided [RCV001995223] |
Chr1:43447545 [GRCh38]
Chr1:43913216 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8879_8881del (p.Phe2960del) |
deletion |
not provided [RCV001878644] |
Chr1:43445945..43445947 [GRCh38]
Chr1:43911616..43911618 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6849G>C (p.Lys2283Asn) |
single nucleotide variant |
not provided [RCV001955061] |
Chr1:43439414 [GRCh38]
Chr1:43905085 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5574T>G (p.Ser1858Arg) |
single nucleotide variant |
not provided [RCV001869919] |
Chr1:43432771 [GRCh38]
Chr1:43898442 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8826-5_8826-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCTCCTCCTTTTCT |
insertion |
not provided [RCV001994988] |
Chr1:43445874..43445875 [GRCh38]
Chr1:43911545..43911546 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4246T>G (p.Ser1416Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458107]|Inborn genetic diseases [RCV002556324]|not provided [RCV001923107] |
Chr1:43429782 [GRCh38]
Chr1:43895453 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2360C>T (p.Ala787Val) |
single nucleotide variant |
not provided [RCV001870052] |
Chr1:43424321 [GRCh38]
Chr1:43889992 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9188T>A (p.Leu3063Gln) |
single nucleotide variant |
not provided [RCV001923466] |
Chr1:43447070 [GRCh38]
Chr1:43912741 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7873+17GGGGGGC[3] |
microsatellite |
not provided [RCV001899420] |
Chr1:43442146..43442147 [GRCh38]
Chr1:43907817..43907818 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.8710C>T (p.Arg2904Cys) |
single nucleotide variant |
not provided [RCV001877088] |
Chr1:43443681 [GRCh38]
Chr1:43909352 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7571G>A (p.Arg2524His) |
single nucleotide variant |
not provided [RCV001920070] |
Chr1:43441563 [GRCh38]
Chr1:43907234 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1906G>A (p.Val636Ile) |
single nucleotide variant |
not provided [RCV001936838] |
Chr1:43422616 [GRCh38]
Chr1:43888287 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3942A>G (p.Gln1314=) |
single nucleotide variant |
not provided [RCV002126603] |
Chr1:43428262 [GRCh38]
Chr1:43893933 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6035-20C>T |
single nucleotide variant |
not provided [RCV002130030] |
Chr1:43437151 [GRCh38]
Chr1:43902822 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9775C>A (p.Arg3259=) |
single nucleotide variant |
not provided [RCV002145481] |
Chr1:43448290 [GRCh38]
Chr1:43913961 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.897T>C (p.Ser299=) |
single nucleotide variant |
not provided [RCV002126681] |
Chr1:43419751 [GRCh38]
Chr1:43885422 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8500-15G>A |
single nucleotide variant |
not provided [RCV002130145] |
Chr1:43443337 [GRCh38]
Chr1:43909008 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1797G>T (p.Pro599=) |
single nucleotide variant |
not provided [RCV002085668] |
Chr1:43422507 [GRCh38]
Chr1:43888178 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7210+17del |
deletion |
not provided [RCV002167802] |
Chr1:43440064 [GRCh38]
Chr1:43905735 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1887A>T (p.Leu629=) |
single nucleotide variant |
not provided [RCV002125662] |
Chr1:43422597 [GRCh38]
Chr1:43888268 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8499+19dup |
duplication |
not provided [RCV002124334] |
Chr1:43443285..43443286 [GRCh38]
Chr1:43908956..43908957 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3598+15T>C |
single nucleotide variant |
not provided [RCV002147085] |
Chr1:43427460 [GRCh38]
Chr1:43893131 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-11C>A |
single nucleotide variant |
not provided [RCV002090633] |
Chr1:43442257 [GRCh38]
Chr1:43907928 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7623G>A (p.Val2541=) |
single nucleotide variant |
not provided [RCV002086476] |
Chr1:43441699 [GRCh38]
Chr1:43907370 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7743-14C>T |
single nucleotide variant |
not provided [RCV002190944] |
Chr1:43441986 [GRCh38]
Chr1:43907657 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4401+20dup |
duplication |
not provided [RCV002110596] |
Chr1:43430122..43430123 [GRCh38]
Chr1:43895793..43895794 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3693T>C (p.Asp1231=) |
single nucleotide variant |
not provided [RCV002084864] |
Chr1:43427624 [GRCh38]
Chr1:43893295 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8793G>A (p.Leu2931=) |
single nucleotide variant |
not provided [RCV002110573] |
Chr1:43443764 [GRCh38]
Chr1:43909435 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.570C>A (p.Leu190=) |
single nucleotide variant |
not provided [RCV002209278] |
Chr1:43415153 [GRCh38]
Chr1:43880824 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8917-19C>T |
single nucleotide variant |
not provided [RCV002146323] |
Chr1:43446160 [GRCh38]
Chr1:43911831 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9072+18G>A |
single nucleotide variant |
not provided [RCV002165599] |
Chr1:43446434 [GRCh38]
Chr1:43912105 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10023C>T (p.Leu3341=) |
single nucleotide variant |
not provided [RCV002089396] |
Chr1:43448665 [GRCh38]
Chr1:43914336 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4989C>A (p.Gly1663=) |
single nucleotide variant |
not provided [RCV002189576] |
Chr1:43431337 [GRCh38]
Chr1:43897008 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.879+11T>C |
single nucleotide variant |
not provided [RCV002074579] |
Chr1:43416652 [GRCh38]
Chr1:43882323 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1890C>T (p.Val630=) |
single nucleotide variant |
not provided [RCV002112571] |
Chr1:43422600 [GRCh38]
Chr1:43888271 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2930-19T>C |
single nucleotide variant |
not provided [RCV002112577] |
Chr1:43426019 [GRCh38]
Chr1:43891690 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5037A>G (p.Leu1679=) |
single nucleotide variant |
not provided [RCV002189705] |
Chr1:43431472 [GRCh38]
Chr1:43897143 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6792+12C>T |
single nucleotide variant |
not provided [RCV002187216] |
Chr1:43439105 [GRCh38]
Chr1:43904776 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2255+50_2255+51insGGAGGTGTGGAAGGGCGTGGCTTAGCAGGGTATGAGTGGTAC |
insertion |
not provided [RCV002126118] |
Chr1:43423325..43423326 [GRCh38]
Chr1:43888996..43888997 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10155+18G>A |
single nucleotide variant |
not provided [RCV002146821] |
Chr1:43450189 [GRCh38]
Chr1:43915860 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3000A>G (p.Pro1000=) |
single nucleotide variant |
not provided [RCV002107149] |
Chr1:43426108 [GRCh38]
Chr1:43891779 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8733G>A (p.Glu2911=) |
single nucleotide variant |
not provided [RCV002165110] |
Chr1:43443704 [GRCh38]
Chr1:43909375 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1627-11C>T |
single nucleotide variant |
not provided [RCV002130321] |
Chr1:43422072 [GRCh38]
Chr1:43887743 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1929A>G (p.Pro643=) |
single nucleotide variant |
not provided [RCV002092425] |
Chr1:43422775 [GRCh38]
Chr1:43888446 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3315A>G (p.Val1105=) |
single nucleotide variant |
not provided [RCV002205714] |
Chr1:43427061 [GRCh38]
Chr1:43892732 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6034+17G>A |
single nucleotide variant |
not provided [RCV002112375] |
Chr1:43435346 [GRCh38]
Chr1:43901017 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7344+15G>A |
single nucleotide variant |
not provided [RCV002090380] |
Chr1:43440601 [GRCh38]
Chr1:43906272 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2208G>A (p.Arg736=) |
single nucleotide variant |
not provided [RCV002208845] |
Chr1:43423269 [GRCh38]
Chr1:43888940 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8280C>T (p.Asp2760=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458130]|not provided [RCV002145446] |
Chr1:43442947 [GRCh38]
Chr1:43908618 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3804-10C>T |
single nucleotide variant |
not provided [RCV002124497] |
Chr1:43427993 [GRCh38]
Chr1:43893664 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.498+15C>G |
single nucleotide variant |
not provided [RCV002127072] |
Chr1:43404565 [GRCh38]
Chr1:43870236 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10011G>C (p.Leu3337=) |
single nucleotide variant |
not provided [RCV002110307] |
Chr1:43448653 [GRCh38]
Chr1:43914324 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.153+13C>T |
single nucleotide variant |
not provided [RCV002108991] |
Chr1:43403315 [GRCh38]
Chr1:43868986 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3598+16C>T |
single nucleotide variant |
not provided [RCV002087839] |
Chr1:43427461 [GRCh38]
Chr1:43893132 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9564-18C>T |
single nucleotide variant |
not provided [RCV002074804] |
Chr1:43448061 [GRCh38]
Chr1:43913732 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7210+16G>A |
single nucleotide variant |
not provided [RCV002166928] |
Chr1:43440064 [GRCh38]
Chr1:43905735 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7512-16C>T |
single nucleotide variant |
not provided [RCV002088151] |
Chr1:43441488 [GRCh38]
Chr1:43907159 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8500-36_8500-12del |
deletion |
not provided [RCV002125786] |
Chr1:43443310..43443334 [GRCh38]
Chr1:43908981..43909005 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5088+11C>G |
single nucleotide variant |
not provided [RCV002128533] |
Chr1:43431534 [GRCh38]
Chr1:43897205 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4309-13A>T |
single nucleotide variant |
not provided [RCV002167158] |
Chr1:43429998 [GRCh38]
Chr1:43895669 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4402-15C>T |
single nucleotide variant |
not provided [RCV002072504] |
Chr1:43430296 [GRCh38]
Chr1:43895967 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7345-13G>A |
single nucleotide variant |
not provided [RCV002187181] |
Chr1:43441201 [GRCh38]
Chr1:43906872 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7610-16C>A |
single nucleotide variant |
not provided [RCV002191720] |
Chr1:43441670 [GRCh38]
Chr1:43907341 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8499+16T>C |
single nucleotide variant |
not provided [RCV002128720] |
Chr1:43443283 [GRCh38]
Chr1:43908954 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8302C>T (p.Leu2768=) |
single nucleotide variant |
not provided [RCV002205493] |
Chr1:43442969 [GRCh38]
Chr1:43908640 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9990G>T (p.Thr3330=) |
single nucleotide variant |
not provided [RCV002088303] |
Chr1:43448632 [GRCh38]
Chr1:43914303 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1092C>T (p.Gly364=) |
single nucleotide variant |
not provided [RCV002089447] |
Chr1:43420154 [GRCh38]
Chr1:43885825 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.499-7T>C |
single nucleotide variant |
not provided [RCV002205316] |
Chr1:43415075 [GRCh38]
Chr1:43880746 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7975-16G>A |
single nucleotide variant |
not provided [RCV002107666] |
Chr1:43442426 [GRCh38]
Chr1:43908097 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4481-18T>C |
single nucleotide variant |
not provided [RCV002108007] |
Chr1:43430478 [GRCh38]
Chr1:43896149 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3523C>T (p.Leu1175=) |
single nucleotide variant |
not provided [RCV002088536] |
Chr1:43427370 [GRCh38]
Chr1:43893041 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1627-10C>G |
single nucleotide variant |
not provided [RCV002127664] |
Chr1:43422073 [GRCh38]
Chr1:43887744 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.615C>T (p.Tyr205=) |
single nucleotide variant |
not provided [RCV002071695] |
Chr1:43415198 [GRCh38]
Chr1:43880869 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3043+16A>T |
single nucleotide variant |
not provided [RCV002126781] |
Chr1:43426167 [GRCh38]
Chr1:43891838 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4917-6G>T |
single nucleotide variant |
not provided [RCV002107848] |
Chr1:43431259 [GRCh38]
Chr1:43896930 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5523A>C (p.Pro1841=) |
single nucleotide variant |
not provided [RCV002167415] |
Chr1:43432597 [GRCh38]
Chr1:43898268 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2412A>C (p.Ser804=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458121]|Inborn genetic diseases [RCV002454334]|not provided [RCV002107128] |
Chr1:43424373 [GRCh38]
Chr1:43890044 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.54G>C (p.Leu18=) |
single nucleotide variant |
not provided [RCV002104856] |
Chr1:43403203 [GRCh38]
Chr1:43868874 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1980A>G (p.Pro660=) |
single nucleotide variant |
not provided [RCV002148223] |
Chr1:43422826 [GRCh38]
Chr1:43888497 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2274G>A (p.Leu758=) |
single nucleotide variant |
not provided [RCV002091554] |
Chr1:43424235 [GRCh38]
Chr1:43889906 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2815-16G>A |
single nucleotide variant |
not provided [RCV002205975] |
Chr1:43425819 [GRCh38]
Chr1:43891490 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4161A>G (p.Glu1387=) |
single nucleotide variant |
not provided [RCV002085264] |
Chr1:43428481 [GRCh38]
Chr1:43894152 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9440+14G>A |
single nucleotide variant |
not provided [RCV002108580] |
Chr1:43447712 [GRCh38]
Chr1:43913383 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1923-5C>T |
single nucleotide variant |
not provided [RCV002148456] |
Chr1:43422764 [GRCh38]
Chr1:43888435 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4402-17T>C |
single nucleotide variant |
not provided [RCV002208542] |
Chr1:43430294 [GRCh38]
Chr1:43895965 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10230C>G (p.Val3410=) |
single nucleotide variant |
not provided [RCV002174168] |
Chr1:43450411 [GRCh38]
Chr1:43916082 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7230G>T (p.Ser2410=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458128]|Inborn genetic diseases [RCV002363612]|not provided [RCV002105979] |
Chr1:43440472 [GRCh38]
Chr1:43906143 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6924C>T (p.Pro2308=) |
single nucleotide variant |
not provided [RCV002151300] |
Chr1:43439651 [GRCh38]
Chr1:43905322 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3804-17T>C |
single nucleotide variant |
not provided [RCV002095711] |
Chr1:43427986 [GRCh38]
Chr1:43893657 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3912T>C (p.Tyr1304=) |
single nucleotide variant |
not provided [RCV002216394] |
Chr1:43428111 [GRCh38]
Chr1:43893782 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9970-15T>C |
single nucleotide variant |
not provided [RCV002124582] |
Chr1:43448597 [GRCh38]
Chr1:43914268 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6693G>A (p.Arg2231=) |
single nucleotide variant |
not provided [RCV002080754] |
Chr1:43438994 [GRCh38]
Chr1:43904665 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6627+19A>G |
single nucleotide variant |
not provided [RCV002080933] |
Chr1:43438836 [GRCh38]
Chr1:43904507 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2016A>C (p.Thr672=) |
single nucleotide variant |
not provided [RCV002145962] |
Chr1:43422862 [GRCh38]
Chr1:43888533 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1617C>T (p.Ser539=) |
single nucleotide variant |
not provided [RCV002212017] |
Chr1:43421294 [GRCh38]
Chr1:43886965 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7215T>C (p.Ser2405=) |
single nucleotide variant |
not provided [RCV002076074] |
Chr1:43440457 [GRCh38]
Chr1:43906128 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6639C>A (p.Pro2213=) |
single nucleotide variant |
not provided [RCV002080189] |
Chr1:43438940 [GRCh38]
Chr1:43904611 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5089-10C>T |
single nucleotide variant |
not provided [RCV002197253] |
Chr1:43431706 [GRCh38]
Chr1:43897377 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5442+16G>A |
single nucleotide variant |
not provided [RCV002080837] |
Chr1:43432455 [GRCh38]
Chr1:43898126 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.154-14A>G |
single nucleotide variant |
not provided [RCV002194408] |
Chr1:43403587 [GRCh38]
Chr1:43869258 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5603-15del |
deletion |
not provided [RCV002086684] |
Chr1:43432973 [GRCh38]
Chr1:43898644 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5603-11A>C |
single nucleotide variant |
not provided [RCV002105513] |
Chr1:43432978 [GRCh38]
Chr1:43898649 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5024+10T>C |
single nucleotide variant |
not provided [RCV002094401] |
Chr1:43431382 [GRCh38]
Chr1:43897053 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9595C>A (p.Arg3199=) |
single nucleotide variant |
not provided [RCV002094410] |
Chr1:43448110 [GRCh38]
Chr1:43913781 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6090G>A (p.Gln2030=) |
single nucleotide variant |
not provided [RCV002165648] |
Chr1:43437226 [GRCh38]
Chr1:43902897 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7511+7G>A |
single nucleotide variant |
not provided [RCV002091335] |
Chr1:43441387 [GRCh38]
Chr1:43907058 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4166+15T>C |
single nucleotide variant |
not provided [RCV002080442] |
Chr1:43428501 [GRCh38]
Chr1:43894172 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6035-4C>G |
single nucleotide variant |
not provided [RCV002097062] |
Chr1:43437167 [GRCh38]
Chr1:43902838 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3433+17T>A |
single nucleotide variant |
not provided [RCV002078030] |
Chr1:43427196 [GRCh38]
Chr1:43892867 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9891G>A (p.Gly3297=) |
single nucleotide variant |
not provided [RCV002076811] |
Chr1:43448406 [GRCh38]
Chr1:43914077 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4846C>T (p.Leu1616=) |
single nucleotide variant |
not provided [RCV002113658] |
Chr1:43431020 [GRCh38]
Chr1:43896691 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9888G>A (p.Gly3296=) |
single nucleotide variant |
not provided [RCV002149767] |
Chr1:43448403 [GRCh38]
Chr1:43914074 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4491T>C (p.Ser1497=) |
single nucleotide variant |
not provided [RCV002097574] |
Chr1:43430506 [GRCh38]
Chr1:43896177 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2428C>T (p.Leu810=) |
single nucleotide variant |
not provided [RCV002194790] |
Chr1:43424389 [GRCh38]
Chr1:43890060 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2037+12C>T |
single nucleotide variant |
not provided [RCV002210042] |
Chr1:43422895 [GRCh38]
Chr1:43888566 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6035-16G>C |
single nucleotide variant |
not provided [RCV002130723] |
Chr1:43437155 [GRCh38]
Chr1:43902826 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8943C>T (p.Tyr2981=) |
single nucleotide variant |
not provided [RCV002133350] |
Chr1:43446205 [GRCh38]
Chr1:43911876 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10014C>T (p.Ile3338=) |
single nucleotide variant |
not provided [RCV002133370] |
Chr1:43448656 [GRCh38]
Chr1:43914327 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1627-8G>A |
single nucleotide variant |
not provided [RCV002095647] |
Chr1:43422075 [GRCh38]
Chr1:43887746 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6792+15A>C |
single nucleotide variant |
not provided [RCV002116128] |
Chr1:43439108 [GRCh38]
Chr1:43904779 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.192G>T (p.Leu64=) |
single nucleotide variant |
not provided [RCV002130863] |
Chr1:43403639 [GRCh38]
Chr1:43869310 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1261+13A>G |
single nucleotide variant |
not provided [RCV002112849] |
Chr1:43420336 [GRCh38]
Chr1:43886007 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5088+13C>T |
single nucleotide variant |
not provided [RCV002212744] |
Chr1:43431536 [GRCh38]
Chr1:43897207 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6084A>G (p.Thr2028=) |
single nucleotide variant |
not provided [RCV002097383] |
Chr1:43437220 [GRCh38]
Chr1:43902891 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8626-16A>T |
single nucleotide variant |
not provided [RCV002216288] |
Chr1:43443581 [GRCh38]
Chr1:43909252 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9563+18C>T |
single nucleotide variant |
not provided [RCV002192402] |
Chr1:43447989 [GRCh38]
Chr1:43913660 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1545A>C (p.Ser515=) |
single nucleotide variant |
not provided [RCV002112135] |
Chr1:43421222 [GRCh38]
Chr1:43886893 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8826-19C>A |
single nucleotide variant |
not provided [RCV002171793] |
Chr1:43445875 [GRCh38]
Chr1:43911546 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1626+13G>A |
single nucleotide variant |
not provided [RCV002190612] |
Chr1:43421316 [GRCh38]
Chr1:43886987 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.837G>A (p.Leu279=) |
single nucleotide variant |
not provided [RCV002168105] |
Chr1:43416599 [GRCh38]
Chr1:43882270 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7609+7C>T |
single nucleotide variant |
not provided [RCV002078133] |
Chr1:43441608 [GRCh38]
Chr1:43907279 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7095T>C (p.Ile2365=) |
single nucleotide variant |
not provided [RCV002093570] |
Chr1:43439933 [GRCh38]
Chr1:43905604 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8998-9del |
deletion |
not provided [RCV002195658] |
Chr1:43446332 [GRCh38]
Chr1:43912003 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7873+16G>A |
single nucleotide variant |
not provided [RCV002110291] |
Chr1:43442146 [GRCh38]
Chr1:43907817 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5602+15C>T |
single nucleotide variant |
not provided [RCV002171960] |
Chr1:43432814 [GRCh38]
Chr1:43898485 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10155+11G>C |
single nucleotide variant |
not provided [RCV002216106] |
Chr1:43450182 [GRCh38]
Chr1:43915853 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3043+10C>G |
single nucleotide variant |
not provided [RCV002171359] |
Chr1:43426161 [GRCh38]
Chr1:43891832 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6508+19del |
deletion |
not provided [RCV002105585] |
Chr1:43437917 [GRCh38]
Chr1:43903588 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.132G>A (p.Gln44=) |
single nucleotide variant |
not provided [RCV002172494] |
Chr1:43403281 [GRCh38]
Chr1:43868952 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5511G>A (p.Leu1837=) |
single nucleotide variant |
not provided [RCV002173255] |
Chr1:43432585 [GRCh38]
Chr1:43898256 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-14C>T |
single nucleotide variant |
not provided [RCV002173267] |
Chr1:43442254 [GRCh38]
Chr1:43907925 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5586G>A (p.Val1862=) |
single nucleotide variant |
not provided [RCV002150992] |
Chr1:43432783 [GRCh38]
Chr1:43898454 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8430C>T (p.Arg2810=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458133]|Inborn genetic diseases [RCV002427724]|not provided [RCV002206194] |
Chr1:43443198 [GRCh38]
Chr1:43908869 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1922+15G>T |
single nucleotide variant |
not provided [RCV002094023] |
Chr1:43422647 [GRCh38]
Chr1:43888318 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5599C>T (p.Leu1867=) |
single nucleotide variant |
not provided [RCV002134898] |
Chr1:43432796 [GRCh38]
Chr1:43898467 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8638C>A (p.Pro2880Thr) |
single nucleotide variant |
not provided [RCV002211026] |
Chr1:43443609 [GRCh38]
Chr1:43909280 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.153+17C>T |
single nucleotide variant |
not provided [RCV002126083] |
Chr1:43403319 [GRCh38]
Chr1:43868990 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9624C>T (p.Asp3208=) |
single nucleotide variant |
not provided [RCV002194745] |
Chr1:43448139 [GRCh38]
Chr1:43913810 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6945C>T (p.Pro2315=) |
single nucleotide variant |
not provided [RCV002074675] |
Chr1:43439672 [GRCh38]
Chr1:43905343 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8917-15_8917-14insAA |
insertion |
not provided [RCV002076200] |
Chr1:43446164..43446165 [GRCh38]
Chr1:43911835..43911836 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1854C>T (p.Thr618=) |
single nucleotide variant |
not provided [RCV002170815] |
Chr1:43422564 [GRCh38]
Chr1:43888235 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6877+19G>T |
single nucleotide variant |
not provided [RCV002078903] |
Chr1:43439461 [GRCh38]
Chr1:43905132 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5089-18C>T |
single nucleotide variant |
not provided [RCV002174101] |
Chr1:43431698 [GRCh38]
Chr1:43897369 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.773-14del |
deletion |
not provided [RCV002095459] |
Chr1:43416521 [GRCh38]
Chr1:43882192 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2922C>T (p.Val974=) |
single nucleotide variant |
not provided [RCV002174152] |
Chr1:43425942 [GRCh38]
Chr1:43891613 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10155+9G>A |
single nucleotide variant |
not provided [RCV002185895] |
Chr1:43450180 [GRCh38]
Chr1:43915851 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6792+16TC[3] |
microsatellite |
not provided [RCV002105340] |
Chr1:43439109..43439110 [GRCh38]
Chr1:43904780..43904781 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10155+13G>T |
single nucleotide variant |
not provided [RCV002214778] |
Chr1:43450184 [GRCh38]
Chr1:43915855 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7211-18A>G |
single nucleotide variant |
not provided [RCV002094130] |
Chr1:43440435 [GRCh38]
Chr1:43906106 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1626+15A>G |
single nucleotide variant |
not provided [RCV002114685] |
Chr1:43421318 [GRCh38]
Chr1:43886989 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2082C>G (p.Pro694=) |
single nucleotide variant |
not provided [RCV002195589] |
Chr1:43423143 [GRCh38]
Chr1:43888814 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7975-10dup |
duplication |
not provided [RCV002116468] |
Chr1:43442427..43442428 [GRCh38]
Chr1:43908098..43908099 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.328-12C>G |
single nucleotide variant |
not provided [RCV002131592] |
Chr1:43404368 [GRCh38]
Chr1:43870039 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9564-11C>T |
single nucleotide variant |
not provided [RCV002094887] |
Chr1:43448068 [GRCh38]
Chr1:43913739 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-19C>T |
single nucleotide variant |
not provided [RCV002192152] |
Chr1:43442249 [GRCh38]
Chr1:43907920 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1374G>A (p.Arg458=) |
single nucleotide variant |
not provided [RCV002113676] |
Chr1:43420861 [GRCh38]
Chr1:43886532 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2471+8A>G |
single nucleotide variant |
not provided [RCV002194841] |
Chr1:43424440 [GRCh38]
Chr1:43890111 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9420C>T (p.Ala3140=) |
single nucleotide variant |
not provided [RCV002087474] |
Chr1:43447678 [GRCh38]
Chr1:43913349 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3804-14C>G |
single nucleotide variant |
not provided [RCV002094344] |
Chr1:43427989 [GRCh38]
Chr1:43893660 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.246A>G (p.Val82=) |
single nucleotide variant |
not provided [RCV002213534] |
Chr1:43403693 [GRCh38]
Chr1:43869364 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5319C>T (p.Asp1773=) |
single nucleotide variant |
not provided [RCV002151369] |
Chr1:43432316 [GRCh38]
Chr1:43897987 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8536C>T (p.Leu2846=) |
single nucleotide variant |
not provided [RCV002116802] |
Chr1:43443388 [GRCh38]
Chr1:43909059 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3433+13G>T |
single nucleotide variant |
not provided [RCV002097122] |
Chr1:43427192 [GRCh38]
Chr1:43892863 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3307C>T (p.Leu1103=) |
single nucleotide variant |
not provided [RCV002116710] |
Chr1:43426807 [GRCh38]
Chr1:43892478 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2088G>A (p.Arg696=) |
single nucleotide variant |
not provided [RCV002079770] |
Chr1:43423149 [GRCh38]
Chr1:43888820 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9563+18C>A |
single nucleotide variant |
not provided [RCV002196315] |
Chr1:43447989 [GRCh38]
Chr1:43913660 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2472-20C>T |
single nucleotide variant |
not provided [RCV002212183] |
Chr1:43424764 [GRCh38]
Chr1:43890435 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6369A>G (p.Gln2123=) |
single nucleotide variant |
not provided [RCV002094906] |
Chr1:43437673 [GRCh38]
Chr1:43903344 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7873+22del |
deletion |
not provided [RCV002134034] |
Chr1:43442146 [GRCh38]
Chr1:43907817 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.5089-8A>G |
single nucleotide variant |
not provided [RCV002152605] |
Chr1:43431708 [GRCh38]
Chr1:43897379 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8083C>T (p.Leu2695=) |
single nucleotide variant |
not provided [RCV002215909] |
Chr1:43442550 [GRCh38]
Chr1:43908221 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8643G>A (p.Glu2881=) |
single nucleotide variant |
not provided [RCV002114985] |
Chr1:43443614 [GRCh38]
Chr1:43909285 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4401+7G>C |
single nucleotide variant |
SZT2-related condition [RCV003978477]|not provided [RCV002097136] |
Chr1:43430110 [GRCh38]
Chr1:43895781 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.94C>T (p.Leu32=) |
single nucleotide variant |
not provided [RCV002108973] |
Chr1:43403243 [GRCh38]
Chr1:43868914 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2070G>C (p.Arg690=) |
single nucleotide variant |
not provided [RCV002194577] |
Chr1:43423131 [GRCh38]
Chr1:43888802 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7924C>A (p.Arg2642=) |
single nucleotide variant |
not provided [RCV002145769] |
Chr1:43442318 [GRCh38]
Chr1:43907989 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1922+18_1922+22del |
deletion |
not provided [RCV002209007] |
Chr1:43422648..43422652 [GRCh38]
Chr1:43888319..43888323 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2037+14T>C |
single nucleotide variant |
not provided [RCV002110482]|not specified [RCV003479410] |
Chr1:43422897 [GRCh38]
Chr1:43888568 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6618T>C (p.Ala2206=) |
single nucleotide variant |
not provided [RCV002220062] |
Chr1:43438808 [GRCh38]
Chr1:43904479 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6627+8C>T |
single nucleotide variant |
not provided [RCV002139280] |
Chr1:43438825 [GRCh38]
Chr1:43904496 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5442+9C>T |
single nucleotide variant |
not provided [RCV002155794] |
Chr1:43432448 [GRCh38]
Chr1:43898119 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10086+20C>G |
single nucleotide variant |
not provided [RCV002135592] |
Chr1:43448748 [GRCh38]
Chr1:43914419 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2038-19G>T |
single nucleotide variant |
not provided [RCV002220431] |
Chr1:43423080 [GRCh38]
Chr1:43888751 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8382A>C (p.Gly2794=) |
single nucleotide variant |
not provided [RCV002098246] |
Chr1:43443049 [GRCh38]
Chr1:43908720 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1782G>A (p.Lys594=) |
single nucleotide variant |
not provided [RCV002135852] |
Chr1:43422492 [GRCh38]
Chr1:43888163 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7512-18T>C |
single nucleotide variant |
not provided [RCV002102389] |
Chr1:43441486 [GRCh38]
Chr1:43907157 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.327+13A>C |
single nucleotide variant |
not provided [RCV002139496] |
Chr1:43403787 [GRCh38]
Chr1:43869458 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1497-12C>T |
single nucleotide variant |
not provided [RCV002102278] |
Chr1:43421162 [GRCh38]
Chr1:43886833 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5275-14C>T |
single nucleotide variant |
not provided [RCV002202439] |
Chr1:43432258 [GRCh38]
Chr1:43897929 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.10156-14C>T |
single nucleotide variant |
not provided [RCV002120267] |
Chr1:43450323 [GRCh38]
Chr1:43915994 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.973C>T (p.Leu325=) |
single nucleotide variant |
not provided [RCV002118542] |
Chr1:43419827 [GRCh38]
Chr1:43885498 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3564C>T (p.Ser1188=) |
single nucleotide variant |
not provided [RCV002155057] |
Chr1:43427411 [GRCh38]
Chr1:43893082 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5274+16A>G |
single nucleotide variant |
not provided [RCV002180161] |
Chr1:43431917 [GRCh38]
Chr1:43897588 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6396+11C>T |
single nucleotide variant |
not provided [RCV002176496] |
Chr1:43437711 [GRCh38]
Chr1:43903382 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7609+11A>G |
single nucleotide variant |
not provided [RCV002120654] |
Chr1:43441612 [GRCh38]
Chr1:43907283 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6321A>G (p.Pro2107=) |
single nucleotide variant |
not provided [RCV002120680] |
Chr1:43437625 [GRCh38]
Chr1:43903296 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7210+10T>G |
single nucleotide variant |
not provided [RCV002120899] |
Chr1:43440058 [GRCh38]
Chr1:43905729 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6793-12T>C |
single nucleotide variant |
not provided [RCV002140349] |
Chr1:43439346 [GRCh38]
Chr1:43905017 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7873+15C>G |
single nucleotide variant |
not provided [RCV002103343] |
Chr1:43442145 [GRCh38]
Chr1:43907816 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5565C>T (p.Leu1855=) |
single nucleotide variant |
not provided [RCV002140684] |
Chr1:43432762 [GRCh38]
Chr1:43898433 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-11C>G |
single nucleotide variant |
not provided [RCV002142699] |
Chr1:43442257 [GRCh38]
Chr1:43907928 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8922T>C (p.Thr2974=) |
single nucleotide variant |
not provided [RCV002180838] |
Chr1:43446184 [GRCh38]
Chr1:43911855 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2082C>T (p.Pro694=) |
single nucleotide variant |
not provided [RCV002144425] |
Chr1:43423143 [GRCh38]
Chr1:43888814 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9969+20C>T |
single nucleotide variant |
not provided [RCV002117647] |
Chr1:43448504 [GRCh38]
Chr1:43914175 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4689A>G (p.Pro1563=) |
single nucleotide variant |
not provided [RCV002184759] |
Chr1:43430704 [GRCh38]
Chr1:43896375 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1627-16T>C |
single nucleotide variant |
not provided [RCV002158177] |
Chr1:43422067 [GRCh38]
Chr1:43887738 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4774+19G>A |
single nucleotide variant |
not provided [RCV002160165] |
Chr1:43430808 [GRCh38]
Chr1:43896479 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5469T>G (p.Pro1823=) |
single nucleotide variant |
not provided [RCV002216915] |
Chr1:43432543 [GRCh38]
Chr1:43898214 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9287-7C>T |
single nucleotide variant |
not provided [RCV002183315] |
Chr1:43447538 [GRCh38]
Chr1:43913209 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.772+15T>C |
single nucleotide variant |
not provided [RCV002163699] |
Chr1:43416116 [GRCh38]
Chr1:43881787 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1262-7C>T |
single nucleotide variant |
not provided [RCV002083890] |
Chr1:43420742 [GRCh38]
Chr1:43886413 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4029C>T (p.Leu1343=) |
single nucleotide variant |
not provided [RCV002121975] |
Chr1:43428349 [GRCh38]
Chr1:43894020 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6188-14T>C |
single nucleotide variant |
not provided [RCV002139794] |
Chr1:43437392 [GRCh38]
Chr1:43903063 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.499-14del |
deletion |
not provided [RCV002161980] |
Chr1:43415066 [GRCh38]
Chr1:43880737 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10155+13G>A |
single nucleotide variant |
not provided [RCV002083945] |
Chr1:43450184 [GRCh38]
Chr1:43915855 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9440+12del |
deletion |
not provided [RCV002176057] |
Chr1:43447710 [GRCh38]
Chr1:43913381 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.5088+15C>A |
single nucleotide variant |
not provided [RCV002098785] |
Chr1:43431538 [GRCh38]
Chr1:43897209 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2929+16G>A |
single nucleotide variant |
not provided [RCV002176087] |
Chr1:43425965 [GRCh38]
Chr1:43891636 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6508+14dup |
duplication |
not provided [RCV002217614] |
Chr1:43437915..43437916 [GRCh38]
Chr1:43903586..43903587 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.7635T>G (p.Ser2545=) |
single nucleotide variant |
not provided [RCV002143800] |
Chr1:43441711 [GRCh38]
Chr1:43907382 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7467A>G (p.Gly2489=) |
single nucleotide variant |
not provided [RCV002183967] |
Chr1:43441336 [GRCh38]
Chr1:43907007 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1922+13A>G |
single nucleotide variant |
not provided [RCV002099085] |
Chr1:43422645 [GRCh38]
Chr1:43888316 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9984C>T (p.Ser3328=) |
single nucleotide variant |
not provided [RCV002138526] |
Chr1:43448626 [GRCh38]
Chr1:43914297 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5805-20A>G |
single nucleotide variant |
not provided [RCV002164502] |
Chr1:43434366 [GRCh38]
Chr1:43900037 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1496+12C>T |
single nucleotide variant |
not provided [RCV002178616] |
Chr1:43420995 [GRCh38]
Chr1:43886666 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.880-5del |
deletion |
not provided [RCV002202976] |
Chr1:43419725 [GRCh38]
Chr1:43885396 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1262-20C>A |
single nucleotide variant |
not provided [RCV002218011] |
Chr1:43420729 [GRCh38]
Chr1:43886400 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3919+14C>T |
single nucleotide variant |
not provided [RCV002082823] |
Chr1:43428132 [GRCh38]
Chr1:43893803 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6188-10A>T |
single nucleotide variant |
not provided [RCV002160861] |
Chr1:43437396 [GRCh38]
Chr1:43903067 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-12C>T |
single nucleotide variant |
not provided [RCV002144037] |
Chr1:43442256 [GRCh38]
Chr1:43907927 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2038-17C>A |
single nucleotide variant |
not provided [RCV002135411] |
Chr1:43423082 [GRCh38]
Chr1:43888753 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4917-16T>C |
single nucleotide variant |
not provided [RCV002135451] |
Chr1:43431249 [GRCh38]
Chr1:43896920 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.880-20C>T |
single nucleotide variant |
not provided [RCV002159076] |
Chr1:43419714 [GRCh38]
Chr1:43885385 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3825C>T (p.Pro1275=) |
single nucleotide variant |
not provided [RCV002220241] |
Chr1:43428024 [GRCh38]
Chr1:43893695 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6627+8C>G |
single nucleotide variant |
not provided [RCV002202894] |
Chr1:43438825 [GRCh38]
Chr1:43904496 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6627+10C>T |
single nucleotide variant |
not provided [RCV002083318] |
Chr1:43438827 [GRCh38]
Chr1:43904498 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4774+9G>A |
single nucleotide variant |
not provided [RCV002182378] |
Chr1:43430798 [GRCh38]
Chr1:43896469 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5603-11A>T |
single nucleotide variant |
not provided [RCV002184351] |
Chr1:43432978 [GRCh38]
Chr1:43898649 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5793T>C (p.Tyr1931=) |
single nucleotide variant |
not provided [RCV002139271] |
Chr1:43433179 [GRCh38]
Chr1:43898850 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8469G>A (p.Gln2823=) |
single nucleotide variant |
not provided [RCV002140636] |
Chr1:43443237 [GRCh38]
Chr1:43908908 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5031A>G (p.Pro1677=) |
single nucleotide variant |
not provided [RCV002137440] |
Chr1:43431466 [GRCh38]
Chr1:43897137 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3309+17C>T |
single nucleotide variant |
not provided [RCV002179201] |
Chr1:43426826 [GRCh38]
Chr1:43892497 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6508+19G>C |
single nucleotide variant |
not provided [RCV002159474] |
Chr1:43437921 [GRCh38]
Chr1:43903592 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8151+11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003447057]|not provided [RCV002121624]|not specified [RCV003403713] |
Chr1:43442629 [GRCh38]
Chr1:43908300 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.5905-4C>T |
single nucleotide variant |
not provided [RCV002103647] |
Chr1:43435196 [GRCh38]
Chr1:43900867 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5089-20C>T |
single nucleotide variant |
not provided [RCV002182693] |
Chr1:43431696 [GRCh38]
Chr1:43897367 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2352T>C (p.Ser784=) |
single nucleotide variant |
not provided [RCV002158175] |
Chr1:43424313 [GRCh38]
Chr1:43889984 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4308+13G>C |
single nucleotide variant |
not provided [RCV002161439] |
Chr1:43429857 [GRCh38]
Chr1:43895528 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7042+14G>A |
single nucleotide variant |
not provided [RCV002121785] |
Chr1:43439783 [GRCh38]
Chr1:43905454 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2817C>T (p.Leu939=) |
single nucleotide variant |
not provided [RCV002180982] |
Chr1:43425837 [GRCh38]
Chr1:43891508 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2442C>G (p.Ala814=) |
single nucleotide variant |
not provided [RCV002084053] |
Chr1:43424403 [GRCh38]
Chr1:43890074 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6384T>C (p.Ser2128=) |
single nucleotide variant |
not provided [RCV002102453] |
Chr1:43437688 [GRCh38]
Chr1:43903359 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7742+16A>G |
single nucleotide variant |
not provided [RCV002159811] |
Chr1:43441834 [GRCh38]
Chr1:43907505 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5905-13C>T |
single nucleotide variant |
not provided [RCV002141089] |
Chr1:43435187 [GRCh38]
Chr1:43900858 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8799A>C (p.Pro2933=) |
single nucleotide variant |
not provided [RCV002175962] |
Chr1:43443770 [GRCh38]
Chr1:43909441 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.21G>A (p.Glu7=) |
single nucleotide variant |
not provided [RCV002203581] |
Chr1:43389989 [GRCh38]
Chr1:43855660 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9009C>T (p.Phe3003=) |
single nucleotide variant |
not provided [RCV002136154] |
Chr1:43446353 [GRCh38]
Chr1:43912024 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3570C>G (p.Val1190=) |
single nucleotide variant |
not provided [RCV002084117] |
Chr1:43427417 [GRCh38]
Chr1:43893088 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8811C>T (p.Pro2937=) |
single nucleotide variant |
not provided [RCV002181228] |
Chr1:43443782 [GRCh38]
Chr1:43909453 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3309+19C>T |
single nucleotide variant |
not provided [RCV002181301] |
Chr1:43426828 [GRCh38]
Chr1:43892499 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3043+22dup |
duplication |
not provided [RCV002141337] |
Chr1:43426170..43426171 [GRCh38]
Chr1:43891841..43891842 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7210+13A>G |
single nucleotide variant |
not provided [RCV002179939] |
Chr1:43440061 [GRCh38]
Chr1:43905732 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3919+15C>T |
single nucleotide variant |
not provided [RCV002158709] |
Chr1:43428133 [GRCh38]
Chr1:43893804 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3433+19C>G |
single nucleotide variant |
not provided [RCV002138413] |
Chr1:43427198 [GRCh38]
Chr1:43892869 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8313C>T (p.Ile2771=) |
single nucleotide variant |
not provided [RCV002101051] |
Chr1:43442980 [GRCh38]
Chr1:43908651 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4629C>T (p.Ser1543=) |
single nucleotide variant |
not provided [RCV002155233] |
Chr1:43430644 [GRCh38]
Chr1:43896315 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2815-6C>T |
single nucleotide variant |
not provided [RCV002180077] |
Chr1:43425829 [GRCh38]
Chr1:43891500 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8152-19G>A |
single nucleotide variant |
not provided [RCV002082789] |
Chr1:43442800 [GRCh38]
Chr1:43908471 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.630+17G>A |
single nucleotide variant |
not provided [RCV002119086] |
Chr1:43415230 [GRCh38]
Chr1:43880901 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7764C>T (p.Phe2588=) |
single nucleotide variant |
not provided [RCV002201269] |
Chr1:43442021 [GRCh38]
Chr1:43907692 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6792+13T>C |
single nucleotide variant |
not provided [RCV002119735] |
Chr1:43439106 [GRCh38]
Chr1:43904777 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7873+22dup |
duplication |
not provided [RCV002083343] |
Chr1:43442145..43442146 [GRCh38]
Chr1:43907816..43907817 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1922+13A>T |
single nucleotide variant |
not provided [RCV002098064] |
Chr1:43422645 [GRCh38]
Chr1:43888316 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6187+12G>A |
single nucleotide variant |
not provided [RCV002123498] |
Chr1:43437335 [GRCh38]
Chr1:43903006 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6918G>A (p.Gly2306=) |
single nucleotide variant |
not provided [RCV002218986] |
Chr1:43439645 [GRCh38]
Chr1:43905316 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7211-20G>C |
single nucleotide variant |
not provided [RCV002120031] |
Chr1:43440433 [GRCh38]
Chr1:43906104 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3598+12G>A |
single nucleotide variant |
not provided [RCV002183380] |
Chr1:43427457 [GRCh38]
Chr1:43893128 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2550+16C>T |
single nucleotide variant |
not provided [RCV002216807] |
Chr1:43424878 [GRCh38]
Chr1:43890549 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7042+13G>T |
single nucleotide variant |
not provided [RCV002139774] |
Chr1:43439782 [GRCh38]
Chr1:43905453 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5603-15A>G |
single nucleotide variant |
not provided [RCV002141061] |
Chr1:43432974 [GRCh38]
Chr1:43898645 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.3639T>G (p.Arg1213=) |
single nucleotide variant |
not provided [RCV002177813] |
Chr1:43427570 [GRCh38]
Chr1:43893241 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1659A>G (p.Ser553=) |
single nucleotide variant |
not provided [RCV002141466] |
Chr1:43422115 [GRCh38]
Chr1:43887786 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3598+11C>T |
single nucleotide variant |
not provided [RCV002156668] |
Chr1:43427456 [GRCh38]
Chr1:43893127 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4774+18C>T |
single nucleotide variant |
not provided [RCV002219466] |
Chr1:43430807 [GRCh38]
Chr1:43896478 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6921C>T (p.Ala2307=) |
single nucleotide variant |
not provided [RCV002123625] |
Chr1:43439648 [GRCh38]
Chr1:43905319 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6291-15G>A |
single nucleotide variant |
not provided [RCV002183878] |
Chr1:43437580 [GRCh38]
Chr1:43903251 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9765G>A (p.Val3255=) |
single nucleotide variant |
not provided [RCV002158636] |
Chr1:43448280 [GRCh38]
Chr1:43913951 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5640T>G (p.Gly1880=) |
single nucleotide variant |
not provided [RCV002204341] |
Chr1:43433026 [GRCh38]
Chr1:43898697 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5172T>C (p.Ala1724=) |
single nucleotide variant |
not provided [RCV002136431] |
Chr1:43431799 [GRCh38]
Chr1:43897470 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9564-4C>G |
single nucleotide variant |
not provided [RCV002084455] |
Chr1:43448075 [GRCh38]
Chr1:43913746 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6222C>T (p.Phe2074=) |
single nucleotide variant |
not provided [RCV002184069] |
Chr1:43437440 [GRCh38]
Chr1:43903111 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4481-12A>C |
single nucleotide variant |
not provided [RCV002217700] |
Chr1:43430484 [GRCh38]
Chr1:43896155 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3599-18G>A |
single nucleotide variant |
not provided [RCV002101245] |
Chr1:43427512 [GRCh38]
Chr1:43893183 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3433+14A>G |
single nucleotide variant |
not provided [RCV002184225] |
Chr1:43427193 [GRCh38]
Chr1:43892864 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10158T>A (p.Ser3386=) |
single nucleotide variant |
not provided [RCV002155206] |
Chr1:43450339 [GRCh38]
Chr1:43916010 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2565G>A (p.Gly855=) |
single nucleotide variant |
not provided [RCV002157325] |
Chr1:43425127 [GRCh38]
Chr1:43890798 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5904+7G>A |
single nucleotide variant |
not provided [RCV002124201] |
Chr1:43434492 [GRCh38]
Chr1:43900163 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4014C>T (p.Asp1338=) |
single nucleotide variant |
not provided [RCV002142392] |
Chr1:43428334 [GRCh38]
Chr1:43894005 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5091C>A (p.Ile1697=) |
single nucleotide variant |
not provided [RCV002099676] |
Chr1:43431718 [GRCh38]
Chr1:43897389 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6291-17A>G |
single nucleotide variant |
not provided [RCV002142457] |
Chr1:43437578 [GRCh38]
Chr1:43903249 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5687C>T (p.Pro1896Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003341529]|not provided [RCV003110061] |
Chr1:43433073 [GRCh38]
Chr1:43898744 [GRCh37]
Chr1:1p34.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001365999.1(SZT2):c.8716G>T (p.Glu2906Ter) |
single nucleotide variant |
not provided [RCV003115214] |
Chr1:43443687 [GRCh38]
Chr1:43909358 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1627-17G>A |
single nucleotide variant |
not provided [RCV003117085] |
Chr1:43422066 [GRCh38]
Chr1:43887737 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7060C>G (p.Arg2354Gly) |
single nucleotide variant |
not provided [RCV003117238] |
Chr1:43439898 [GRCh38]
Chr1:43905569 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NC_000001.10:g.(?_43880733)_(43916151_?)dup |
duplication |
not provided [RCV003119565] |
Chr1:43880733..43916151 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3784C>T (p.Pro1262Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002227779] |
Chr1:43427715 [GRCh38]
Chr1:43893386 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5797C>T (p.His1933Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002254383] |
Chr1:43433183 [GRCh38]
Chr1:43898854 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4289C>T (p.Ala1430Val) |
single nucleotide variant |
not provided [RCV002255027] |
Chr1:43429825 [GRCh38]
Chr1:43895496 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9855G>A (p.Leu3285=) |
single nucleotide variant |
not provided [RCV002265457] |
Chr1:43448370 [GRCh38]
Chr1:43914041 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2995C>T (p.Leu999=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435537] |
Chr1:43426103 [GRCh38]
Chr1:43891774 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8357_8358delinsGA (p.Pro2786Arg) |
indel |
not provided [RCV002293689] |
Chr1:43443024..43443025 [GRCh38]
Chr1:43908695..43908696 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10033T>C (p.Phe3345Leu) |
single nucleotide variant |
not provided [RCV002281529] |
Chr1:43448675 [GRCh38]
Chr1:43914346 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9636C>G (p.Phe3212Leu) |
single nucleotide variant |
not specified [RCV002266212] |
Chr1:43448151 [GRCh38]
Chr1:43913822 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5521C>T (p.Pro1841Ser) |
single nucleotide variant |
not provided [RCV002286888] |
Chr1:43432595 [GRCh38]
Chr1:43898266 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7177C>T (p.Pro2393Ser) |
single nucleotide variant |
not provided [RCV002287088] |
Chr1:43440015 [GRCh38]
Chr1:43905686 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1240C>G (p.Arg414Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458135]|not provided [RCV002292137] |
Chr1:43420302 [GRCh38]
Chr1:43885973 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.194C>G (p.Pro65Arg) |
single nucleotide variant |
not provided [RCV002260796] |
Chr1:43403641 [GRCh38]
Chr1:43869312 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.625A>G (p.Ser209Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002366710] |
Chr1:43415208 [GRCh38]
Chr1:43880879 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2621dup (p.His875fs) |
duplication |
Inborn genetic diseases [RCV002437236] |
Chr1:43425177..43425178 [GRCh38]
Chr1:43890848..43890849 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.10002C>T (p.Tyr3334=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458142]|Inborn genetic diseases [RCV002387255]|not provided [RCV003094881] |
Chr1:43448644 [GRCh38]
Chr1:43914315 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.949G>A (p.Ala317Thr) |
single nucleotide variant |
not provided [RCV002285914] |
Chr1:43419803 [GRCh38]
Chr1:43885474 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2824C>G (p.Arg942Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002435017] |
Chr1:43425844 [GRCh38]
Chr1:43891515 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.256C>A (p.Arg86=) |
single nucleotide variant |
Inborn genetic diseases [RCV002452749]|not provided [RCV003101983] |
Chr1:43403703 [GRCh38]
Chr1:43869374 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.6459C>T (p.Gly2153=) |
single nucleotide variant |
Inborn genetic diseases [RCV002368712] |
Chr1:43437853 [GRCh38]
Chr1:43903524 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8552C>T (p.Ala2851Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003279994] |
Chr1:43443404 [GRCh38]
Chr1:43909075 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4142G>A (p.Arg1381Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003303928] |
Chr1:43428462 [GRCh38]
Chr1:43894133 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8649G>A (p.Gly2883=) |
single nucleotide variant |
not provided [RCV002967868] |
Chr1:43443620 [GRCh38]
Chr1:43909291 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.24G>A (p.Pro8=) |
single nucleotide variant |
not provided [RCV003012251] |
Chr1:43389992 [GRCh38]
Chr1:43855663 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8392C>G (p.Leu2798Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002412516] |
Chr1:43443059 [GRCh38]
Chr1:43908730 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6690C>T (p.Cys2230=) |
single nucleotide variant |
not provided [RCV002681976] |
Chr1:43438991 [GRCh38]
Chr1:43904662 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4326C>A (p.Ile1442=) |
single nucleotide variant |
not provided [RCV002903051] |
Chr1:43430028 [GRCh38]
Chr1:43895699 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5799T>G (p.His1933Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002345053] |
Chr1:43433185 [GRCh38]
Chr1:43898856 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3433G>A (p.Asp1145Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003287709] |
Chr1:43427179 [GRCh38]
Chr1:43892850 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1086C>T (p.Tyr362=) |
single nucleotide variant |
Inborn genetic diseases [RCV002425791]|not provided [RCV003098711] |
Chr1:43419940 [GRCh38]
Chr1:43885611 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.6397G>A (p.Gly2133Ser) |
single nucleotide variant |
not provided [RCV002304072] |
Chr1:43437791 [GRCh38]
Chr1:43903462 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6176G>T (p.Gly2059Val) |
single nucleotide variant |
not provided [RCV002304360] |
Chr1:43437312 [GRCh38]
Chr1:43902983 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8897A>G (p.Lys2966Arg) |
single nucleotide variant |
not provided [RCV002304395] |
Chr1:43445965 [GRCh38]
Chr1:43911636 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1867G>A (p.Asp623Asn) |
single nucleotide variant |
not provided [RCV002304418] |
Chr1:43422577 [GRCh38]
Chr1:43888248 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1273T>A (p.Leu425Met) |
single nucleotide variant |
not provided [RCV002304431] |
Chr1:43420760 [GRCh38]
Chr1:43886431 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5382_5383delinsGC (p.Ser1795Pro) |
indel |
not provided [RCV002304478] |
Chr1:43432379..43432380 [GRCh38]
Chr1:43898050..43898051 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9934C>T (p.His3312Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458136]|not provided [RCV002295501] |
Chr1:43448449 [GRCh38]
Chr1:43914120 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4692G>A (p.Pro1564=) |
single nucleotide variant |
Inborn genetic diseases [RCV002340004] |
Chr1:43430707 [GRCh38]
Chr1:43896378 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9978C>T (p.Phe3326=) |
single nucleotide variant |
Inborn genetic diseases [RCV002376801] |
Chr1:43448620 [GRCh38]
Chr1:43914291 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4303A>G (p.Ile1435Val) |
single nucleotide variant |
not provided [RCV002295242] |
Chr1:43429839 [GRCh38]
Chr1:43895510 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7466_7467delinsTT (p.Gly2489Val) |
indel |
Inborn genetic diseases [RCV002382696] |
Chr1:43441335..43441336 [GRCh38]
Chr1:43907006..43907007 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3443G>T (p.Arg1148Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002445714] |
Chr1:43427290 [GRCh38]
Chr1:43892961 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2178G>A (p.Val726=) |
single nucleotide variant |
Inborn genetic diseases [RCV002432847]|not provided [RCV003775129] |
Chr1:43423239 [GRCh38]
Chr1:43888910 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5970AGA[1] (p.Glu1991del) |
microsatellite |
Inborn genetic diseases [RCV002359894] |
Chr1:43435263..43435265 [GRCh38]
Chr1:43900934..43900936 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4844C>T (p.Thr1615Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458139]|Inborn genetic diseases [RCV002330519]|not provided [RCV003096414] |
Chr1:43431018 [GRCh38]
Chr1:43896689 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2310A>G (p.Pro770=) |
single nucleotide variant |
Inborn genetic diseases [RCV002446433] |
Chr1:43424271 [GRCh38]
Chr1:43889942 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1624C>A (p.Pro542Thr) |
single nucleotide variant |
not provided [RCV002295570] |
Chr1:43421301 [GRCh38]
Chr1:43886972 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7070T>A (p.Leu2357Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002308505] |
Chr1:43439908 [GRCh38]
Chr1:43905579 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.259G>A (p.Val87Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002426206] |
Chr1:43403706 [GRCh38]
Chr1:43869377 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1057A>G (p.Ser353Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458145]|Inborn genetic diseases [RCV002399132]|not provided [RCV003097182] |
Chr1:43419911 [GRCh38]
Chr1:43885582 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9053G>A (p.Gly3018Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002375985] |
Chr1:43446397 [GRCh38]
Chr1:43912068 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7352C>T (p.Thr2451Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002370742] |
Chr1:43441221 [GRCh38]
Chr1:43906892 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6500G>T (p.Gly2167Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002354014] |
Chr1:43437894 [GRCh38]
Chr1:43903565 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.778A>G (p.Ile260Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002409847] |
Chr1:43416540 [GRCh38]
Chr1:43882211 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6758A>C (p.Lys2253Thr) |
single nucleotide variant |
not provided [RCV002295542] |
Chr1:43439059 [GRCh38]
Chr1:43904730 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.598A>G (p.Met200Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002357864] |
Chr1:43415181 [GRCh38]
Chr1:43880852 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5230A>C (p.Ser1744Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002335766] |
Chr1:43431857 [GRCh38]
Chr1:43897528 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4249_4250del (p.Leu1417fs) |
microsatellite |
Inborn genetic diseases [RCV002323084] |
Chr1:43429780..43429781 [GRCh38]
Chr1:43895451..43895452 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4575G>T (p.Gly1525=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333772] |
Chr1:43430590 [GRCh38]
Chr1:43896261 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6013C>T (p.Arg2005Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002353293] |
Chr1:43435308 [GRCh38]
Chr1:43900979 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10216C>A (p.Pro3406Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458144]|Inborn genetic diseases [RCV002403615]|not provided [RCV003097054] |
Chr1:43450397 [GRCh38]
Chr1:43916068 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2817C>A (p.Leu939=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441759] |
Chr1:43425837 [GRCh38]
Chr1:43891508 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3501G>A (p.Gly1167=) |
single nucleotide variant |
Inborn genetic diseases [RCV002326491] |
Chr1:43427348 [GRCh38]
Chr1:43893019 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6030T>C (p.Ser2010=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353371] |
Chr1:43435325 [GRCh38]
Chr1:43900996 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5113del (p.Met1705fs) |
deletion |
Inborn genetic diseases [RCV002342694] |
Chr1:43431740 [GRCh38]
Chr1:43897411 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1232A>G (p.Tyr411Cys) |
single nucleotide variant |
not provided [RCV002296288] |
Chr1:43420294 [GRCh38]
Chr1:43885965 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4355C>T (p.Ser1452Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002327733] |
Chr1:43430057 [GRCh38]
Chr1:43895728 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8916+4A>C |
single nucleotide variant |
not provided [RCV002305875] |
Chr1:43445988 [GRCh38]
Chr1:43911659 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4561C>T (p.Leu1521=) |
single nucleotide variant |
Inborn genetic diseases [RCV002333650] |
Chr1:43430576 [GRCh38]
Chr1:43896247 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.520T>C (p.Leu174=) |
single nucleotide variant |
Inborn genetic diseases [RCV002344267]|not provided [RCV003776066] |
Chr1:43415103 [GRCh38]
Chr1:43880774 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.178G>A (p.Val60Ile) |
single nucleotide variant |
not provided [RCV002296436] |
Chr1:43403625 [GRCh38]
Chr1:43869296 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9910C>T (p.Leu3304=) |
single nucleotide variant |
Inborn genetic diseases [RCV002376745]|not provided [RCV003669298] |
Chr1:43448425 [GRCh38]
Chr1:43914096 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9881G>A (p.Arg3294Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458141]|Inborn genetic diseases [RCV002376700]|not provided [RCV003103611] |
Chr1:43448396 [GRCh38]
Chr1:43914067 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2807C>T (p.Pro936Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002441649]|not provided [RCV003720639] |
Chr1:43425635 [GRCh38]
Chr1:43891306 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5803C>A (p.Arg1935=) |
single nucleotide variant |
Inborn genetic diseases [RCV002345097] |
Chr1:43433189 [GRCh38]
Chr1:43898860 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7213A>G (p.Ser2405Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458140]|Inborn genetic diseases [RCV002364958]|not provided [RCV003098453] |
Chr1:43440455 [GRCh38]
Chr1:43906126 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2472-5T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002450613] |
Chr1:43424779 [GRCh38]
Chr1:43890450 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7244G>A (p.Ser2415Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002365107] |
Chr1:43440486 [GRCh38]
Chr1:43906157 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7948T>C (p.Leu2650=) |
single nucleotide variant |
Inborn genetic diseases [RCV002409787] |
Chr1:43442342 [GRCh38]
Chr1:43908013 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3755A>G (p.Gln1252Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458137]|Inborn genetic diseases [RCV002460284]|not provided [RCV003120904] |
Chr1:43427686 [GRCh38]
Chr1:43893357 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6024G>A (p.Leu2008=) |
single nucleotide variant |
Inborn genetic diseases [RCV002353352] |
Chr1:43435319 [GRCh38]
Chr1:43900990 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5547C>T (p.Pro1849=) |
single nucleotide variant |
not provided [RCV003011936] |
Chr1:43432744 [GRCh38]
Chr1:43898415 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1619C>G (p.Thr540Ser) |
single nucleotide variant |
not provided [RCV002815359] |
Chr1:43421296 [GRCh38]
Chr1:43886967 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1090+3G>A |
single nucleotide variant |
not provided [RCV003032667] |
Chr1:43419947 [GRCh38]
Chr1:43885618 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6092_6093inv (p.Phe2031Ter) |
inversion |
not provided [RCV003032814] |
Chr1:43437228..43437229 [GRCh38]
Chr1:43902899..43902900 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9563+4A>G |
single nucleotide variant |
not provided [RCV003014912] |
Chr1:43447975 [GRCh38]
Chr1:43913646 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3695G>A (p.Gly1232Glu) |
single nucleotide variant |
not provided [RCV002616479] |
Chr1:43427626 [GRCh38]
Chr1:43893297 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1334C>T (p.Ala445Val) |
single nucleotide variant |
not provided [RCV002838441] |
Chr1:43420821 [GRCh38]
Chr1:43886492 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7042+14G>C |
single nucleotide variant |
not provided [RCV002771577] |
Chr1:43439783 [GRCh38]
Chr1:43905454 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4571C>A (p.Ala1524Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458158]|Inborn genetic diseases [RCV002988751]|not provided [RCV002993887] |
Chr1:43430586 [GRCh38]
Chr1:43896257 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001190880.3(HYI):c.92G>A (p.Gly31Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002841643] |
Chr1:43453702 [GRCh38]
Chr1:43919373 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3433+1G>A |
single nucleotide variant |
not provided [RCV002881275] |
Chr1:43427180 [GRCh38]
Chr1:43892851 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.1770-10C>T |
single nucleotide variant |
not provided [RCV003015740] |
Chr1:43422470 [GRCh38]
Chr1:43888141 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7652G>A (p.Arg2551Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457198]|Inborn genetic diseases [RCV002683532]|not provided [RCV003111655] |
Chr1:43441728 [GRCh38]
Chr1:43907399 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4073del (p.Pro1358fs) |
deletion |
not provided [RCV002881203] |
Chr1:43428389 [GRCh38]
Chr1:43894060 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.879+18A>G |
single nucleotide variant |
not provided [RCV003033570] |
Chr1:43416659 [GRCh38]
Chr1:43882330 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.773-16G>A |
single nucleotide variant |
not provided [RCV002615116] |
Chr1:43416519 [GRCh38]
Chr1:43882190 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2408C>G (p.Pro803Arg) |
single nucleotide variant |
not provided [RCV003095329] |
Chr1:43424369 [GRCh38]
Chr1:43890040 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5037A>C (p.Leu1679=) |
single nucleotide variant |
not provided [RCV002862397] |
Chr1:43431472 [GRCh38]
Chr1:43897143 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2591C>T (p.Thr864Ile) |
single nucleotide variant |
not provided [RCV002993608] |
Chr1:43425153 [GRCh38]
Chr1:43890824 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7866A>C (p.Thr2622=) |
single nucleotide variant |
not provided [RCV002511586] |
Chr1:43442123 [GRCh38]
Chr1:43907794 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3369C>G (p.Arg1123=) |
single nucleotide variant |
not provided [RCV002730366] |
Chr1:43427115 [GRCh38]
Chr1:43892786 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6101G>A (p.Gly2034Asp) |
single nucleotide variant |
not provided [RCV003015597] |
Chr1:43437237 [GRCh38]
Chr1:43902908 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.28G>T (p.Val10Leu) |
single nucleotide variant |
not provided [RCV002815302] |
Chr1:43403177 [GRCh38]
Chr1:43868848 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1241G>A (p.Arg414Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002879767] |
Chr1:43420303 [GRCh38]
Chr1:43885974 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1770-8_1770-7del |
microsatellite |
not provided [RCV002750574] |
Chr1:43422470..43422471 [GRCh38]
Chr1:43888141..43888142 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.858T>C (p.Thr286=) |
single nucleotide variant |
not provided [RCV002815350] |
Chr1:43416620 [GRCh38]
Chr1:43882291 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3434-17T>C |
single nucleotide variant |
not provided [RCV003014356] |
Chr1:43427264 [GRCh38]
Chr1:43892935 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9559C>T (p.Leu3187=) |
single nucleotide variant |
not provided [RCV002862828] |
Chr1:43447967 [GRCh38]
Chr1:43913638 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5900A>G (p.Asn1967Ser) |
single nucleotide variant |
not provided [RCV002750154] |
Chr1:43434481 [GRCh38]
Chr1:43900152 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6418A>G (p.Met2140Val) |
single nucleotide variant |
not provided [RCV002903333] |
Chr1:43437812 [GRCh38]
Chr1:43903483 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6128G>A (p.Gly2043Glu) |
single nucleotide variant |
not provided [RCV003075469] |
Chr1:43437264 [GRCh38]
Chr1:43902935 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1769+20G>A |
single nucleotide variant |
not provided [RCV002843107] |
Chr1:43422245 [GRCh38]
Chr1:43887916 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9564-17C>T |
single nucleotide variant |
not provided [RCV002862465] |
Chr1:43448062 [GRCh38]
Chr1:43913733 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1626+8G>T |
single nucleotide variant |
not provided [RCV002948260] |
Chr1:43421311 [GRCh38]
Chr1:43886982 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9757G>A (p.Ala3253Thr) |
single nucleotide variant |
not provided [RCV002861635] |
Chr1:43448272 [GRCh38]
Chr1:43913943 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6396+19C>T |
single nucleotide variant |
not provided [RCV003074314] |
Chr1:43437719 [GRCh38]
Chr1:43903390 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9931G>A (p.Val3311Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002727858] |
Chr1:43448446 [GRCh38]
Chr1:43914117 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2508T>C (p.Ser836=) |
single nucleotide variant |
not provided [RCV002794895] |
Chr1:43424820 [GRCh38]
Chr1:43890491 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1602C>T (p.Tyr534=) |
single nucleotide variant |
not provided [RCV002947981] |
Chr1:43421279 [GRCh38]
Chr1:43886950 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3289G>C (p.Asp1097His) |
single nucleotide variant |
not provided [RCV002971247] |
Chr1:43426789 [GRCh38]
Chr1:43892460 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6140G>A (p.Arg2047Gln) |
single nucleotide variant |
not provided [RCV003074452] |
Chr1:43437276 [GRCh38]
Chr1:43902947 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9267C>T (p.Gly3089=) |
single nucleotide variant |
not provided [RCV002734927] |
Chr1:43447149 [GRCh38]
Chr1:43912820 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5518G>C (p.Val1840Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002688227] |
Chr1:43432592 [GRCh38]
Chr1:43898263 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5455A>G (p.Ser1819Gly) |
single nucleotide variant |
not provided [RCV002819173] |
Chr1:43432529 [GRCh38]
Chr1:43898200 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7226G>C (p.Gly2409Ala) |
single nucleotide variant |
not provided [RCV002690452] |
Chr1:43440468 [GRCh38]
Chr1:43906139 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1457G>C (p.Arg486Pro) |
single nucleotide variant |
not provided [RCV002903635] |
Chr1:43420944 [GRCh38]
Chr1:43886615 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6302C>T (p.Thr2101Ile) |
single nucleotide variant |
not provided [RCV002756133] |
Chr1:43437606 [GRCh38]
Chr1:43903277 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4834C>T (p.Leu1612Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458147]|Inborn genetic diseases [RCV002569442]|not provided [RCV002511205] |
Chr1:43431008 [GRCh38]
Chr1:43896679 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9528T>G (p.Phe3176Leu) |
single nucleotide variant |
not provided [RCV003034845] |
Chr1:43447936 [GRCh38]
Chr1:43913607 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1304A>G (p.His435Arg) |
single nucleotide variant |
not provided [RCV002842970] |
Chr1:43420791 [GRCh38]
Chr1:43886462 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2222T>G (p.Val741Gly) |
single nucleotide variant |
not provided [RCV002756632] |
Chr1:43423283 [GRCh38]
Chr1:43888954 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9494_9501del (p.Val3165fs) |
deletion |
not provided [RCV002843297] |
Chr1:43447900..43447907 [GRCh38]
Chr1:43913571..43913578 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7836A>G (p.Gly2612=) |
single nucleotide variant |
not provided [RCV003034670] |
Chr1:43442093 [GRCh38]
Chr1:43907764 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7274C>T (p.Pro2425Leu) |
single nucleotide variant |
not provided [RCV002756526] |
Chr1:43440516 [GRCh38]
Chr1:43906187 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5089-10C>G |
single nucleotide variant |
SZT2-related condition [RCV003973494]|not provided [RCV002820077] |
Chr1:43431706 [GRCh38]
Chr1:43897377 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7527G>T (p.Gln2509His) |
single nucleotide variant |
not provided [RCV003034766] |
Chr1:43441519 [GRCh38]
Chr1:43907190 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9287-19C>A |
single nucleotide variant |
not provided [RCV002975182] |
Chr1:43447526 [GRCh38]
Chr1:43913197 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9021G>C (p.Gln3007His) |
single nucleotide variant |
Inborn genetic diseases [RCV002839861] |
Chr1:43446365 [GRCh38]
Chr1:43912036 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6178dup (p.Val2060fs) |
duplication |
not provided [RCV002734771] |
Chr1:43437309..43437310 [GRCh38]
Chr1:43902980..43902981 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.6644G>C (p.Gly2215Ala) |
single nucleotide variant |
not provided [RCV002994444] |
Chr1:43438945 [GRCh38]
Chr1:43904616 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2150del (p.Gly717fs) |
deletion |
not provided [RCV002882129] |
Chr1:43423207 [GRCh38]
Chr1:43888878 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001190880.3(HYI):c.631G>A (p.Val211Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002734743] |
Chr1:43451539 [GRCh38]
Chr1:43917210 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6042T>C (p.Ala2014=) |
single nucleotide variant |
not provided [RCV002734785] |
Chr1:43437178 [GRCh38]
Chr1:43902849 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5134G>A (p.Gly1712Arg) |
single nucleotide variant |
not provided [RCV003032316] |
Chr1:43431761 [GRCh38]
Chr1:43897432 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3433+5C>A |
single nucleotide variant |
not provided [RCV002616143] |
Chr1:43427184 [GRCh38]
Chr1:43892855 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6142G>A (p.Val2048Ile) |
single nucleotide variant |
not provided [RCV003016117] |
Chr1:43437278 [GRCh38]
Chr1:43902949 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7811C>T (p.Ala2604Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002839780] |
Chr1:43442068 [GRCh38]
Chr1:43907739 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2891A>G (p.Glu964Gly) |
single nucleotide variant |
not provided [RCV002614531] |
Chr1:43425911 [GRCh38]
Chr1:43891582 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9171C>T (p.His3057=) |
single nucleotide variant |
not provided [RCV002907733] |
Chr1:43447053 [GRCh38]
Chr1:43912724 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001190880.3(HYI):c.263A>G (p.Glu88Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002774569] |
Chr1:43453434 [GRCh38]
Chr1:43919105 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9514T>C (p.Cys3172Arg) |
single nucleotide variant |
not provided [RCV002971433] |
Chr1:43447922 [GRCh38]
Chr1:43913593 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9279_9286del (p.Ile3093fs) |
deletion |
not provided [RCV002991731] |
Chr1:43447161..43447168 [GRCh38]
Chr1:43912832..43912839 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.5742G>C (p.Leu1914=) |
single nucleotide variant |
not provided [RCV003033091] |
Chr1:43433128 [GRCh38]
Chr1:43898799 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458154]|not provided [RCV002771376] |
Chr1:43446384 [GRCh38]
Chr1:43912055 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.5804+8G>A |
single nucleotide variant |
not provided [RCV002971809] |
Chr1:43433198 [GRCh38]
Chr1:43898869 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6628-19T>G |
single nucleotide variant |
not provided [RCV002838293] |
Chr1:43438910 [GRCh38]
Chr1:43904581 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.87T>C (p.Asn29=) |
single nucleotide variant |
not provided [RCV002863310] |
Chr1:43403236 [GRCh38]
Chr1:43868907 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8998-17C>A |
single nucleotide variant |
not provided [RCV003015404] |
Chr1:43446325 [GRCh38]
Chr1:43911996 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2472-12A>G |
single nucleotide variant |
not provided [RCV002754905] |
Chr1:43424772 [GRCh38]
Chr1:43890443 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6118G>A (p.Val2040Ile) |
single nucleotide variant |
not provided [RCV002904273] |
Chr1:43437254 [GRCh38]
Chr1:43902925 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9480G>C (p.Gln3160His) |
single nucleotide variant |
Inborn genetic diseases [RCV002731677] |
Chr1:43447888 [GRCh38]
Chr1:43913559 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7704G>A (p.Met2568Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002840757] |
Chr1:43441780 [GRCh38]
Chr1:43907451 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2747G>T (p.Arg916Leu) |
single nucleotide variant |
not provided [RCV002686264] |
Chr1:43425575 [GRCh38]
Chr1:43891246 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5118G>A (p.Val1706=) |
single nucleotide variant |
not provided [RCV002726305] |
Chr1:43431745 [GRCh38]
Chr1:43897416 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9286+12A>C |
single nucleotide variant |
not provided [RCV002994474] |
Chr1:43447180 [GRCh38]
Chr1:43912851 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2660A>G (p.Asp887Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002863982] |
Chr1:43425488 [GRCh38]
Chr1:43891159 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001190880.3(HYI):c.97G>C (p.Glu33Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002689617] |
Chr1:43453697 [GRCh38]
Chr1:43919368 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2261A>T (p.Glu754Val) |
single nucleotide variant |
not provided [RCV003013507] |
Chr1:43424222 [GRCh38]
Chr1:43889893 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5602+13G>A |
single nucleotide variant |
not provided [RCV003014231] |
Chr1:43432812 [GRCh38]
Chr1:43898483 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2930-8_2930-5del |
microsatellite |
not provided [RCV002819600] |
Chr1:43426026..43426029 [GRCh38]
Chr1:43891697..43891700 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4122G>A (p.Glu1374=) |
single nucleotide variant |
not provided [RCV002730185] |
Chr1:43428442 [GRCh38]
Chr1:43894113 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1071G>A (p.Leu357=) |
single nucleotide variant |
not provided [RCV002617281] |
Chr1:43419925 [GRCh38]
Chr1:43885596 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7277C>T (p.Ala2426Val) |
single nucleotide variant |
not provided [RCV002842909] |
Chr1:43440519 [GRCh38]
Chr1:43906190 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9131C>T (p.Ser3044Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458148]|Inborn genetic diseases [RCV002571610]|not provided [RCV002511430] |
Chr1:43447013 [GRCh38]
Chr1:43912684 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1091-4C>T |
single nucleotide variant |
not provided [RCV003034308] |
Chr1:43420149 [GRCh38]
Chr1:43885820 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10087-17_10087-15del |
microsatellite |
not provided [RCV002995909] |
Chr1:43450082..43450084 [GRCh38]
Chr1:43915753..43915755 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8500-18A>T |
single nucleotide variant |
not provided [RCV002908446] |
Chr1:43443334 [GRCh38]
Chr1:43909005 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6065G>C (p.Arg2022Pro) |
single nucleotide variant |
not provided [RCV002842928] |
Chr1:43437201 [GRCh38]
Chr1:43902872 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4679A>G (p.His1560Arg) |
single nucleotide variant |
not provided [RCV003152082] |
Chr1:43430694 [GRCh38]
Chr1:43896365 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7742+19G>A |
single nucleotide variant |
not provided [RCV002755772] |
Chr1:43441837 [GRCh38]
Chr1:43907508 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8580_8587del (p.Leu2862fs) |
deletion |
not provided [RCV003017047] |
Chr1:43443427..43443434 [GRCh38]
Chr1:43909098..43909105 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9533A>G (p.Glu3178Gly) |
single nucleotide variant |
not provided [RCV002823728] |
Chr1:43447941 [GRCh38]
Chr1:43913612 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2646-17_2646-16del |
microsatellite |
not provided [RCV002662749] |
Chr1:43425455..43425456 [GRCh38]
Chr1:43891126..43891127 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6282C>G (p.Tyr2094Ter) |
single nucleotide variant |
not provided [RCV002593317] |
Chr1:43437500 [GRCh38]
Chr1:43903171 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8038C>T (p.Arg2680Cys) |
single nucleotide variant |
not provided [RCV002953760] |
Chr1:43442505 [GRCh38]
Chr1:43908176 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8008C>A (p.Leu2670Met) |
single nucleotide variant |
not provided [RCV002928066] |
Chr1:43442475 [GRCh38]
Chr1:43908146 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5443-9A>G |
single nucleotide variant |
not provided [RCV003079788] |
Chr1:43432508 [GRCh38]
Chr1:43898179 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7225G>A (p.Gly2409Arg) |
single nucleotide variant |
not provided [RCV002740115] |
Chr1:43440467 [GRCh38]
Chr1:43906138 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2466C>T (p.Leu822=) |
single nucleotide variant |
not provided [RCV002889544] |
Chr1:43424427 [GRCh38]
Chr1:43890098 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7619C>T (p.Ser2540Leu) |
single nucleotide variant |
not provided [RCV003039324] |
Chr1:43441695 [GRCh38]
Chr1:43907366 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9035G>A (p.Cys3012Tyr) |
single nucleotide variant |
not provided [RCV002796212] |
Chr1:43446379 [GRCh38]
Chr1:43912050 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.953T>C (p.Met318Thr) |
single nucleotide variant |
not provided [RCV003002658] |
Chr1:43419807 [GRCh38]
Chr1:43885478 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6274G>A (p.Ala2092Thr) |
single nucleotide variant |
not provided [RCV002823838] |
Chr1:43437492 [GRCh38]
Chr1:43903163 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1009G>A (p.Gly337Ser) |
single nucleotide variant |
not provided [RCV002592081] |
Chr1:43419863 [GRCh38]
Chr1:43885534 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5812A>G (p.Ile1938Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458149]|Inborn genetic diseases [RCV002572080]|not provided [RCV002572079] |
Chr1:43434393 [GRCh38]
Chr1:43900064 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5904+18C>A |
single nucleotide variant |
not provided [RCV002927639] |
Chr1:43434503 [GRCh38]
Chr1:43900174 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6607C>T (p.Leu2203=) |
single nucleotide variant |
not provided [RCV002871495] |
Chr1:43438797 [GRCh38]
Chr1:43904468 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1109T>G (p.Phe370Cys) |
single nucleotide variant |
not provided [RCV003053700] |
Chr1:43420171 [GRCh38]
Chr1:43885842 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7042+13G>A |
single nucleotide variant |
not provided [RCV002953477] |
Chr1:43439782 [GRCh38]
Chr1:43905453 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8353A>G (p.Arg2785Gly) |
single nucleotide variant |
not provided [RCV003055610] |
Chr1:43443020 [GRCh38]
Chr1:43908691 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7799C>A (p.Pro2600His) |
single nucleotide variant |
not provided [RCV002592443] |
Chr1:43442056 [GRCh38]
Chr1:43907727 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6595C>G (p.Arg2199Gly) |
single nucleotide variant |
not provided [RCV003035343] |
Chr1:43438785 [GRCh38]
Chr1:43904456 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3215-13A>G |
single nucleotide variant |
not provided [RCV002662721] |
Chr1:43426702 [GRCh38]
Chr1:43892373 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-1G>A |
single nucleotide variant |
not provided [RCV002914025] |
Chr1:43442267 [GRCh38]
Chr1:43907938 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.7975-6C>T |
single nucleotide variant |
not provided [RCV002889569] |
Chr1:43442436 [GRCh38]
Chr1:43908107 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4403A>T (p.Asp1468Val) |
single nucleotide variant |
not provided [RCV002979717] |
Chr1:43430312 [GRCh38]
Chr1:43895983 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5457C>T (p.Ser1819=) |
single nucleotide variant |
not provided [RCV002800412] |
Chr1:43432531 [GRCh38]
Chr1:43898202 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9340G>A (p.Val3114Met) |
single nucleotide variant |
not provided [RCV002620816] |
Chr1:43447598 [GRCh38]
Chr1:43913269 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1363C>T (p.Arg455Ter) |
single nucleotide variant |
not provided [RCV002619351] |
Chr1:43420850 [GRCh38]
Chr1:43886521 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.2614T>C (p.Phe872Leu) |
single nucleotide variant |
not provided [RCV002694818] |
Chr1:43425176 [GRCh38]
Chr1:43890847 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9944C>T (p.Ser3315Phe) |
single nucleotide variant |
not provided [RCV003077343] |
Chr1:43448459 [GRCh38]
Chr1:43914130 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8242_8245del (p.Ser2748fs) |
deletion |
not provided [RCV002637482] |
Chr1:43442907..43442910 [GRCh38]
Chr1:43908578..43908581 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7619_7620del (p.Ser2540fs) |
deletion |
not provided [RCV002847282] |
Chr1:43441695..43441696 [GRCh38]
Chr1:43907366..43907367 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8151+19C>T |
single nucleotide variant |
not provided [RCV002658854] |
Chr1:43442637 [GRCh38]
Chr1:43908308 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4067C>T (p.Ala1356Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002797796] |
Chr1:43428387 [GRCh38]
Chr1:43894058 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8839C>T (p.Arg2947Trp) |
single nucleotide variant |
not provided [RCV002760701] |
Chr1:43445907 [GRCh38]
Chr1:43911578 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1262-4T>A |
single nucleotide variant |
not provided [RCV002867906] |
Chr1:43420745 [GRCh38]
Chr1:43886416 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10024C>T (p.Leu3342=) |
single nucleotide variant |
not provided [RCV002867921] |
Chr1:43448666 [GRCh38]
Chr1:43914337 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7607T>C (p.Ile2536Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002845964] |
Chr1:43441599 [GRCh38]
Chr1:43907270 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.773-2A>G |
single nucleotide variant |
not provided [RCV002867784] |
Chr1:43416533 [GRCh38]
Chr1:43882204 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.9929C>T (p.Ala3310Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002911512] |
Chr1:43448444 [GRCh38]
Chr1:43914115 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4474dup (p.Glu1492fs) |
duplication |
not provided [RCV002846340] |
Chr1:43430382..43430383 [GRCh38]
Chr1:43896053..43896054 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8500-14C>T |
single nucleotide variant |
not provided [RCV002848354] |
Chr1:43443338 [GRCh38]
Chr1:43909009 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4804C>A (p.Pro1602Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002888836] |
Chr1:43430978 [GRCh38]
Chr1:43896649 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1003A>C (p.Asn335His) |
single nucleotide variant |
Inborn genetic diseases [RCV002707425] |
Chr1:43419857 [GRCh38]
Chr1:43885528 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7075G>A (p.Val2359Met) |
single nucleotide variant |
not provided [RCV002820360] |
Chr1:43439913 [GRCh38]
Chr1:43905584 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7635T>C (p.Ser2545=) |
single nucleotide variant |
not provided [RCV002736073] |
Chr1:43441711 [GRCh38]
Chr1:43907382 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8419+12G>A |
single nucleotide variant |
not provided [RCV003052847] |
Chr1:43443098 [GRCh38]
Chr1:43908769 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001190880.3(HYI):c.374T>C (p.Met125Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002693850] |
Chr1:43452257 [GRCh38]
Chr1:43917928 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5171C>T (p.Ala1724Val) |
single nucleotide variant |
not provided [RCV003020655] |
Chr1:43431798 [GRCh38]
Chr1:43897469 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.18G>T (p.Pro6=) |
single nucleotide variant |
not provided [RCV002622384] |
Chr1:43389986 [GRCh38]
Chr1:43855657 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.773-10C>G |
single nucleotide variant |
not provided [RCV002820454] |
Chr1:43416525 [GRCh38]
Chr1:43882196 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3310-17_3310-16del |
deletion |
not provided [RCV003018449] |
Chr1:43427038..43427039 [GRCh38]
Chr1:43892709..43892710 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7210+17G>A |
single nucleotide variant |
not provided [RCV002621414] |
Chr1:43440065 [GRCh38]
Chr1:43905736 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.773-5T>C |
single nucleotide variant |
not provided [RCV003020876] |
Chr1:43416530 [GRCh38]
Chr1:43882201 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2255+20_2255+61dup |
duplication |
not provided [RCV002592278] |
Chr1:43423318..43423319 [GRCh38]
Chr1:43888989..43888990 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9352G>A (p.Ala3118Thr) |
single nucleotide variant |
not provided [RCV003038588] |
Chr1:43447610 [GRCh38]
Chr1:43913281 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5235T>C (p.Phe1745=) |
single nucleotide variant |
not provided [RCV002796158] |
Chr1:43431862 [GRCh38]
Chr1:43897533 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.612G>C (p.Gln204His) |
single nucleotide variant |
Inborn genetic diseases [RCV002737734] |
Chr1:43415195 [GRCh38]
Chr1:43880866 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.631-1_634del |
deletion |
not provided [RCV002979822] |
Chr1:43415959..43415963 [GRCh38]
Chr1:43881630..43881634 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.5025-17A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003446114]|not provided [RCV000514305] |
Chr1:43431443 [GRCh38]
Chr1:43897114 [GRCh37]
Chr1:1p34.2 |
benign|likely benign |
| NM_001365999.1(SZT2):c.2950A>G (p.Thr984Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457682]|not provided [RCV000419448] |
Chr1:43426058 [GRCh38]
Chr1:43891729 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7368G>C (p.Leu2456Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003246600] |
Chr1:43441237 [GRCh38]
Chr1:43906908 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.559T>C (p.Tyr187His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457748]|Inborn genetic diseases [RCV002312402]|not provided [RCV001219353] |
Chr1:43415142 [GRCh38]
Chr1:43880813 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2788C>T (p.Leu930=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457749]|Inborn genetic diseases [RCV002312403]|not provided [RCV000862900] |
Chr1:43425616 [GRCh38]
Chr1:43891287 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2427G>A (p.Ala809=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457751]|Inborn genetic diseases [RCV002312752]|not provided [RCV002532997] |
Chr1:43424388 [GRCh38]
Chr1:43890059 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9781C>T (p.Arg3261Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457752]|Inborn genetic diseases [RCV002312754]|not provided [RCV001339429] |
Chr1:43448296 [GRCh38]
Chr1:43913967 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3782C>T (p.Ala1261Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV001335725]|Inborn genetic diseases [RCV002312762]|SZT2-related condition [RCV003907986]|not provided [RCV000870705] |
Chr1:43427713 [GRCh38]
Chr1:43893384 [GRCh37]
Chr1:1p34.2 |
likely benign|uncertain significance |
| NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV002477655]|Inborn genetic diseases [RCV002312798]|Seizure [RCV000716452]|not provided [RCV000817368] |
Chr1:43437321 [GRCh38]
Chr1:43902992 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1 |
copy number loss |
not provided [RCV000850001] |
Chr1:43336799..44713202 [GRCh37]
Chr1:1p34.2-34.1 |
pathogenic |
| NM_001365999.1(SZT2):c.5379G>A (p.Glu1793=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457902]|not provided [RCV000993985] |
Chr1:43432376 [GRCh38]
Chr1:43898047 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7687G>A (p.Ala2563Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457969]|not provided [RCV001235042] |
Chr1:43441763 [GRCh38]
Chr1:43907434 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4987G>A (p.Gly1663Ser) |
single nucleotide variant |
not provided [RCV001210743] |
Chr1:43431335 [GRCh38]
Chr1:43897006 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5732G>A (p.Gly1911Glu) |
single nucleotide variant |
Encephalocele [RCV001257351] |
Chr1:43433118 [GRCh38]
Chr1:43898789 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5653del (p.Gly1886fs) |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV001292585] |
Chr1:43433037 [GRCh38]
Chr1:43898708 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7561G>A (p.Val2521Met) |
single nucleotide variant |
not provided [RCV001304930] |
Chr1:43441553 [GRCh38]
Chr1:43907224 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9577G>C (p.Val3193Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458013]|Inborn genetic diseases [RCV002546235]|not provided [RCV001327805] |
Chr1:43448092 [GRCh38]
Chr1:43913763 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8378A>G (p.His2793Arg) |
single nucleotide variant |
not provided [RCV001755074] |
Chr1:43443045 [GRCh38]
Chr1:43908716 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8594C>G (p.Pro2865Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458087]|Inborn genetic diseases [RCV002449415]|not provided [RCV001754800] |
Chr1:43443446 [GRCh38]
Chr1:43909117 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9196C>T (p.Arg3066Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458086]|not provided [RCV001772748] |
Chr1:43447078 [GRCh38]
Chr1:43912749 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10155+1G>A |
single nucleotide variant |
not provided [RCV001909725] |
Chr1:43450172 [GRCh38]
Chr1:43915843 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.*1719del |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV002266706] |
Chr1:43452197 [GRCh38]
Chr1:43917868 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5666C>A (p.Ala1889Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003257155] |
Chr1:43433052 [GRCh38]
Chr1:43898723 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6497T>C (p.Val2166Ala) |
single nucleotide variant |
not provided [RCV003074699] |
Chr1:43437891 [GRCh38]
Chr1:43903562 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2005C>T (p.Pro669Ser) |
single nucleotide variant |
not provided [RCV003014177] |
Chr1:43422851 [GRCh38]
Chr1:43888522 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9461C>G (p.Ser3154Cys) |
single nucleotide variant |
not provided [RCV002948076] |
Chr1:43447869 [GRCh38]
Chr1:43913540 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001190880.3(HYI):c.250G>A (p.Ala84Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002993095] |
Chr1:43453447 [GRCh38]
Chr1:43919118 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1801A>T (p.Ser601Cys) |
single nucleotide variant |
not provided [RCV002760687] |
Chr1:43422511 [GRCh38]
Chr1:43888182 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4775-4C>G |
single nucleotide variant |
not provided [RCV002761166] |
Chr1:43430945 [GRCh38]
Chr1:43896616 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1091-9G>C |
single nucleotide variant |
not provided [RCV003100162] |
Chr1:43420144 [GRCh38]
Chr1:43885815 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6397-1G>C |
single nucleotide variant |
not provided [RCV002735984] |
Chr1:43437790 [GRCh38]
Chr1:43903461 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.5715A>G (p.Ser1905=) |
single nucleotide variant |
not provided [RCV002886157] |
Chr1:43433101 [GRCh38]
Chr1:43898772 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7615G>A (p.Ala2539Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002887761] |
Chr1:43441691 [GRCh38]
Chr1:43907362 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4775-16T>G |
single nucleotide variant |
not provided [RCV002909255] |
Chr1:43430933 [GRCh38]
Chr1:43896604 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7511+4TG[5] |
microsatellite |
not provided [RCV003037838] |
Chr1:43441383..43441384 [GRCh38]
Chr1:43907054..43907055 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2241C>A (p.Asp747Glu) |
single nucleotide variant |
not provided [RCV003001916] |
Chr1:43423302 [GRCh38]
Chr1:43888973 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5076C>T (p.Thr1692=) |
single nucleotide variant |
not provided [RCV002978981] |
Chr1:43431511 [GRCh38]
Chr1:43897182 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1497-1G>A |
single nucleotide variant |
not provided [RCV003036138] |
Chr1:43421173 [GRCh38]
Chr1:43886844 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.8000C>T (p.Ala2667Val) |
single nucleotide variant |
not provided [RCV002621967] |
Chr1:43442467 [GRCh38]
Chr1:43908138 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2793G>A (p.Thr931=) |
single nucleotide variant |
not provided [RCV002619243] |
Chr1:43425621 [GRCh38]
Chr1:43891292 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5530+17G>C |
single nucleotide variant |
not provided [RCV003018147] |
Chr1:43432621 [GRCh38]
Chr1:43898292 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9339C>T (p.Tyr3113=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458156]|not provided [RCV002885543] |
Chr1:43447597 [GRCh38]
Chr1:43913268 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8212C>T (p.Pro2738Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002925412] |
Chr1:43442879 [GRCh38]
Chr1:43908550 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2646-12T>C |
single nucleotide variant |
not provided [RCV003018895] |
Chr1:43425462 [GRCh38]
Chr1:43891133 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5345C>A (p.Ala1782Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002845815] |
Chr1:43432342 [GRCh38]
Chr1:43898013 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1386G>A (p.Thr462=) |
single nucleotide variant |
not provided [RCV002591903] |
Chr1:43420873 [GRCh38]
Chr1:43886544 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3434-20T>G |
single nucleotide variant |
not provided [RCV002824731] |
Chr1:43427261 [GRCh38]
Chr1:43892932 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6392C>G (p.Ala2131Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002822907] |
Chr1:43437696 [GRCh38]
Chr1:43903367 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001190880.3(HYI):c.23C>T (p.Ala8Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002757468] |
Chr1:43453771 [GRCh38]
Chr1:43919442 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6877+17G>C |
single nucleotide variant |
not provided [RCV002866156] |
Chr1:43439459 [GRCh38]
Chr1:43905130 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4258G>A (p.Val1420Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002997917] |
Chr1:43429794 [GRCh38]
Chr1:43895465 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1496+19C>G |
single nucleotide variant |
not provided [RCV002638595] |
Chr1:43421002 [GRCh38]
Chr1:43886673 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8333C>T (p.Ser2778Phe) |
single nucleotide variant |
not provided [RCV002979424] |
Chr1:43443000 [GRCh38]
Chr1:43908671 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10155G>A (p.Thr3385=) |
single nucleotide variant |
not provided [RCV002926747] |
Chr1:43450171 [GRCh38]
Chr1:43915842 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4726C>T (p.Arg1576Cys) |
single nucleotide variant |
not provided [RCV002913104] |
Chr1:43430741 [GRCh38]
Chr1:43896412 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6382T>G (p.Ser2128Ala) |
single nucleotide variant |
not provided [RCV002734974] |
Chr1:43437686 [GRCh38]
Chr1:43903357 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7511+14G>A |
single nucleotide variant |
not provided [RCV002885283] |
Chr1:43441394 [GRCh38]
Chr1:43907065 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5025-8C>T |
single nucleotide variant |
not provided [RCV002867729] |
Chr1:43431452 [GRCh38]
Chr1:43897123 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7609+17C>A |
single nucleotide variant |
not provided [RCV002895133] |
Chr1:43441618 [GRCh38]
Chr1:43907289 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3804-20A>G |
single nucleotide variant |
not provided [RCV003085733] |
Chr1:43427983 [GRCh38]
Chr1:43893654 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4021C>G (p.Pro1341Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457192]|Inborn genetic diseases [RCV003384335]|not provided [RCV003082599] |
Chr1:43428341 [GRCh38]
Chr1:43894012 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9073-20T>A |
single nucleotide variant |
not provided [RCV002711271] |
Chr1:43446935 [GRCh38]
Chr1:43912606 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.328-17T>C |
single nucleotide variant |
not provided [RCV002786429] |
Chr1:43404363 [GRCh38]
Chr1:43870034 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6792+15A>G |
single nucleotide variant |
not provided [RCV002893861] |
Chr1:43439108 [GRCh38]
Chr1:43904779 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7687G>T (p.Ala2563Ser) |
single nucleotide variant |
not provided [RCV002745286] |
Chr1:43441763 [GRCh38]
Chr1:43907434 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4805C>T (p.Pro1602Leu) |
single nucleotide variant |
not provided [RCV003042520] |
Chr1:43430979 [GRCh38]
Chr1:43896650 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2864A>G (p.Tyr955Cys) |
single nucleotide variant |
not provided [RCV003058766] |
Chr1:43425884 [GRCh38]
Chr1:43891555 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3834C>G (p.Ser1278=) |
single nucleotide variant |
not provided [RCV002625185] |
Chr1:43428033 [GRCh38]
Chr1:43893704 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2956G>A (p.Val986Ile) |
single nucleotide variant |
not provided [RCV003084199] |
Chr1:43426064 [GRCh38]
Chr1:43891735 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2433T>C (p.Pro811=) |
single nucleotide variant |
not provided [RCV002985231] |
Chr1:43424394 [GRCh38]
Chr1:43890065 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3919+9G>A |
single nucleotide variant |
not provided [RCV002876717] |
Chr1:43428127 [GRCh38]
Chr1:43893798 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4120G>T (p.Glu1374Ter) |
single nucleotide variant |
not provided [RCV002876351] |
Chr1:43428440 [GRCh38]
Chr1:43894111 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3442C>T (p.Arg1148Cys) |
single nucleotide variant |
not provided [RCV002597361] |
Chr1:43427289 [GRCh38]
Chr1:43892960 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6791A>C (p.Gln2264Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002804612] |
Chr1:43439092 [GRCh38]
Chr1:43904763 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5506A>C (p.Ser1836Arg) |
single nucleotide variant |
not provided [RCV003043506] |
Chr1:43432580 [GRCh38]
Chr1:43898251 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4066G>A (p.Ala1356Thr) |
single nucleotide variant |
not provided [RCV002642849] |
Chr1:43428386 [GRCh38]
Chr1:43894057 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8326C>T (p.Pro2776Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002956105] |
Chr1:43442993 [GRCh38]
Chr1:43908664 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1254G>A (p.Leu418=) |
single nucleotide variant |
not provided [RCV003042145] |
Chr1:43420316 [GRCh38]
Chr1:43885987 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1593A>C (p.Pro531=) |
single nucleotide variant |
not provided [RCV002596453] |
Chr1:43421270 [GRCh38]
Chr1:43886941 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1496+21_1496+24del |
deletion |
not provided [RCV002851697] |
Chr1:43421003..43421006 [GRCh38]
Chr1:43886674..43886677 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9990G>A (p.Thr3330=) |
single nucleotide variant |
not provided [RCV002625899] |
Chr1:43448632 [GRCh38]
Chr1:43914303 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2087G>A (p.Arg696Gln) |
single nucleotide variant |
not provided [RCV002596473] |
Chr1:43423148 [GRCh38]
Chr1:43888819 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2376C>T (p.Tyr792=) |
single nucleotide variant |
not provided [RCV003007963] |
Chr1:43424337 [GRCh38]
Chr1:43890008 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8825+13C>T |
single nucleotide variant |
not provided [RCV003043517] |
Chr1:43443809 [GRCh38]
Chr1:43909480 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001190880.3(HYI):c.259C>G (p.Arg87Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002768475] |
Chr1:43453438 [GRCh38]
Chr1:43919109 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5708A>G (p.Gln1903Arg) |
single nucleotide variant |
not provided [RCV003007431] |
Chr1:43433094 [GRCh38]
Chr1:43898765 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5501del (p.Leu1834fs) |
deletion |
not provided [RCV002890032] |
Chr1:43432575 [GRCh38]
Chr1:43898246 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1017T>G (p.Thr339=) |
single nucleotide variant |
not provided [RCV002626060] |
Chr1:43419871 [GRCh38]
Chr1:43885542 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5136G>A (p.Gly1712=) |
single nucleotide variant |
not provided [RCV003007565] |
Chr1:43431763 [GRCh38]
Chr1:43897434 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10049G>A (p.Arg3350His) |
single nucleotide variant |
not provided [RCV002918174] |
Chr1:43448691 [GRCh38]
Chr1:43914362 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5603-17C>G |
single nucleotide variant |
not provided [RCV003023977] |
Chr1:43432972 [GRCh38]
Chr1:43898643 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4774+12G>T |
single nucleotide variant |
not provided [RCV002594034] |
Chr1:43430801 [GRCh38]
Chr1:43896472 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9700G>A (p.Glu3234Lys) |
single nucleotide variant |
not provided [RCV002572366] |
Chr1:43448215 [GRCh38]
Chr1:43913886 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2646-16G>A |
single nucleotide variant |
not provided [RCV002890651] |
Chr1:43425458 [GRCh38]
Chr1:43891129 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.28-15T>G |
single nucleotide variant |
not provided [RCV002825747] |
Chr1:43403162 [GRCh38]
Chr1:43868833 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2365C>T (p.Leu789=) |
single nucleotide variant |
not provided [RCV002871958] |
Chr1:43424326 [GRCh38]
Chr1:43889997 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5443-20C>G |
single nucleotide variant |
not provided [RCV003056021] |
Chr1:43432497 [GRCh38]
Chr1:43898168 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.80C>A (p.Ser27Tyr) |
single nucleotide variant |
not provided [RCV003082607] |
Chr1:43403229 [GRCh38]
Chr1:43868900 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7943G>A (p.Arg2648Lys) |
single nucleotide variant |
not provided [RCV003024311] |
Chr1:43442337 [GRCh38]
Chr1:43908008 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7579C>T (p.Gln2527Ter) |
single nucleotide variant |
not provided [RCV002710532] |
Chr1:43441571 [GRCh38]
Chr1:43907242 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9132G>A (p.Ser3044=) |
single nucleotide variant |
not provided [RCV002595563] |
Chr1:43447014 [GRCh38]
Chr1:43912685 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2271C>A (p.Pro757=) |
single nucleotide variant |
not provided [RCV002982347] |
Chr1:43424232 [GRCh38]
Chr1:43889903 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2764G>A (p.Gly922Arg) |
single nucleotide variant |
not provided [RCV002593888] |
Chr1:43425592 [GRCh38]
Chr1:43891263 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4619A>T (p.Asp1540Val) |
single nucleotide variant |
not provided [RCV002593908] |
Chr1:43430634 [GRCh38]
Chr1:43896305 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7873+15C>T |
single nucleotide variant |
not provided [RCV003082999] |
Chr1:43442145 [GRCh38]
Chr1:43907816 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7813G>C (p.Glu2605Gln) |
single nucleotide variant |
not provided [RCV002917233] |
Chr1:43442070 [GRCh38]
Chr1:43907741 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4216C>G (p.Pro1406Ala) |
single nucleotide variant |
not provided [RCV003040149] |
Chr1:43429752 [GRCh38]
Chr1:43895423 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9232T>G (p.Phe3078Val) |
single nucleotide variant |
not provided [RCV003023117] |
Chr1:43447114 [GRCh38]
Chr1:43912785 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9440+12A>G |
single nucleotide variant |
not provided [RCV002915029] |
Chr1:43447710 [GRCh38]
Chr1:43913381 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5474C>T (p.Ser1825Phe) |
single nucleotide variant |
not provided [RCV002850947] |
Chr1:43432548 [GRCh38]
Chr1:43898219 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.733A>G (p.Ile245Val) |
single nucleotide variant |
not provided [RCV002642697] |
Chr1:43416062 [GRCh38]
Chr1:43881733 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8152-7C>G |
single nucleotide variant |
not provided [RCV002790692] |
Chr1:43442812 [GRCh38]
Chr1:43908483 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10087-1G>C |
single nucleotide variant |
not provided [RCV002894766] |
Chr1:43450102 [GRCh38]
Chr1:43915773 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.7693G>T (p.Val2565Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002930266] |
Chr1:43441769 [GRCh38]
Chr1:43907440 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7628G>A (p.Arg2543Lys) |
single nucleotide variant |
not provided [RCV003040580] |
Chr1:43441704 [GRCh38]
Chr1:43907375 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6817C>A (p.Leu2273Ile) |
single nucleotide variant |
not provided [RCV002828978] |
Chr1:43439382 [GRCh38]
Chr1:43905053 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8511G>A (p.Leu2837=) |
single nucleotide variant |
not provided [RCV002801989] |
Chr1:43443363 [GRCh38]
Chr1:43909034 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.681C>T (p.Gly227=) |
single nucleotide variant |
not provided [RCV002985264] |
Chr1:43416010 [GRCh38]
Chr1:43881681 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1995C>T (p.Arg665=) |
single nucleotide variant |
not provided [RCV003025057] |
Chr1:43422841 [GRCh38]
Chr1:43888512 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8420-13C>T |
single nucleotide variant |
not provided [RCV002933078] |
Chr1:43443175 [GRCh38]
Chr1:43908846 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4607C>G (p.Thr1536Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457195]|Inborn genetic diseases [RCV003162043]|not provided [RCV002624547] |
Chr1:43430622 [GRCh38]
Chr1:43896293 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6679C>T (p.Pro2227Ser) |
single nucleotide variant |
not provided [RCV002626059] |
Chr1:43438980 [GRCh38]
Chr1:43904651 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.428T>C (p.Ile143Thr) |
single nucleotide variant |
not provided [RCV002894798] |
Chr1:43404480 [GRCh38]
Chr1:43870151 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7129G>C (p.Ala2377Pro) |
single nucleotide variant |
not provided [RCV002664158] |
Chr1:43439967 [GRCh38]
Chr1:43905638 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6410C>T (p.Pro2137Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458160]|Inborn genetic diseases [RCV003274172]|not provided [RCV003058519] |
Chr1:43437804 [GRCh38]
Chr1:43903475 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3281C>T (p.Ala1094Val) |
single nucleotide variant |
not provided [RCV003056549] |
Chr1:43426781 [GRCh38]
Chr1:43892452 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6319C>T (p.Pro2107Ser) |
single nucleotide variant |
not provided [RCV002851865] |
Chr1:43437623 [GRCh38]
Chr1:43903294 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3398A>G (p.His1133Arg) |
single nucleotide variant |
not provided [RCV002642626] |
Chr1:43427144 [GRCh38]
Chr1:43892815 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9436C>T (p.His3146Tyr) |
single nucleotide variant |
not provided [RCV003056101] |
Chr1:43447694 [GRCh38]
Chr1:43913365 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4401+3G>A |
single nucleotide variant |
not provided [RCV003022447] |
Chr1:43430106 [GRCh38]
Chr1:43895777 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2256-19G>T |
single nucleotide variant |
not provided [RCV003006481] |
Chr1:43424198 [GRCh38]
Chr1:43889869 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3568G>A (p.Val1190Ile) |
single nucleotide variant |
not provided [RCV002644414] |
Chr1:43427415 [GRCh38]
Chr1:43893086 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.972C>T (p.Tyr324=) |
single nucleotide variant |
not provided [RCV003057427] |
Chr1:43419826 [GRCh38]
Chr1:43885497 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.880-4C>G |
single nucleotide variant |
not provided [RCV002982627] |
Chr1:43419730 [GRCh38]
Chr1:43885401 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2124A>G (p.Arg708=) |
single nucleotide variant |
not provided [RCV002596685] |
Chr1:43423185 [GRCh38]
Chr1:43888856 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3229C>T (p.Leu1077=) |
single nucleotide variant |
not provided [RCV002666776] |
Chr1:43426729 [GRCh38]
Chr1:43892400 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4084C>T (p.Pro1362Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002713009] |
Chr1:43428404 [GRCh38]
Chr1:43894075 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1922+7A>C |
single nucleotide variant |
not provided [RCV002790342] |
Chr1:43422639 [GRCh38]
Chr1:43888310 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3302C>A (p.Thr1101Asn) |
single nucleotide variant |
not provided [RCV003024905] |
Chr1:43426802 [GRCh38]
Chr1:43892473 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2038-19G>A |
single nucleotide variant |
not provided [RCV003083164] |
Chr1:43423080 [GRCh38]
Chr1:43888751 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9562C>G (p.Arg3188Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002827102] |
Chr1:43447970 [GRCh38]
Chr1:43913641 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7742+8T>C |
single nucleotide variant |
not provided [RCV003025122] |
Chr1:43441826 [GRCh38]
Chr1:43907497 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10002C>G (p.Tyr3334Ter) |
single nucleotide variant |
not provided [RCV002853142] |
Chr1:43448644 [GRCh38]
Chr1:43914315 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3468A>T (p.Gly1156=) |
single nucleotide variant |
not provided [RCV002932753] |
Chr1:43427315 [GRCh38]
Chr1:43892986 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1431A>G (p.Leu477=) |
single nucleotide variant |
not provided [RCV003058867] |
Chr1:43420918 [GRCh38]
Chr1:43886589 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4402-4C>G |
single nucleotide variant |
not provided [RCV003025591] |
Chr1:43430307 [GRCh38]
Chr1:43895978 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5592A>C (p.Ser1864=) |
single nucleotide variant |
not provided [RCV003042475] |
Chr1:43432789 [GRCh38]
Chr1:43898460 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9168G>T (p.Gln3056His) |
single nucleotide variant |
not provided [RCV003059258] |
Chr1:43447050 [GRCh38]
Chr1:43912721 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3264A>G (p.Ala1088=) |
single nucleotide variant |
not provided [RCV003025740] |
Chr1:43426764 [GRCh38]
Chr1:43892435 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5539C>T (p.Pro1847Ser) |
single nucleotide variant |
not provided [RCV003084203] |
Chr1:43432736 [GRCh38]
Chr1:43898407 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9686C>T (p.Ala3229Val) |
single nucleotide variant |
not provided [RCV003085146] |
Chr1:43448201 [GRCh38]
Chr1:43913872 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3689C>G (p.Ala1230Gly) |
single nucleotide variant |
not provided [RCV002918903] |
Chr1:43427620 [GRCh38]
Chr1:43893291 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6627+4A>G |
single nucleotide variant |
not provided [RCV002642850] |
Chr1:43438821 [GRCh38]
Chr1:43904492 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6291-2A>G |
single nucleotide variant |
not provided [RCV002889934] |
Chr1:43437593 [GRCh38]
Chr1:43903264 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.6008G>T (p.Arg2003Leu) |
single nucleotide variant |
not provided [RCV002575519] |
Chr1:43435303 [GRCh38]
Chr1:43900974 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8152-15T>C |
single nucleotide variant |
not provided [RCV002958517] |
Chr1:43442804 [GRCh38]
Chr1:43908475 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6384dup (p.Glu2129Ter) |
duplication |
not provided [RCV002889989] |
Chr1:43437687..43437688 [GRCh38]
Chr1:43903358..43903359 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8856T>C (p.Leu2952=) |
single nucleotide variant |
not provided [RCV002894375] |
Chr1:43445924 [GRCh38]
Chr1:43911595 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3825C>G (p.Pro1275=) |
single nucleotide variant |
not provided [RCV002575889] |
Chr1:43428024 [GRCh38]
Chr1:43893695 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9550C>T (p.Arg3184Trp) |
single nucleotide variant |
not provided [RCV003063555] |
Chr1:43447958 [GRCh38]
Chr1:43913629 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7653G>A (p.Arg2551=) |
single nucleotide variant |
not provided [RCV002602205] |
Chr1:43441729 [GRCh38]
Chr1:43907400 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.328G>A (p.Asp110Asn) |
single nucleotide variant |
not provided [RCV003065891] |
Chr1:43404380 [GRCh38]
Chr1:43870051 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2899C>A (p.Pro967Thr) |
single nucleotide variant |
not provided [RCV002810911] |
Chr1:43425919 [GRCh38]
Chr1:43891590 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8152-11C>G |
single nucleotide variant |
not provided [RCV002807232] |
Chr1:43442808 [GRCh38]
Chr1:43908479 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.447C>G (p.Ile149Met) |
single nucleotide variant |
not provided [RCV002646652] |
Chr1:43404499 [GRCh38]
Chr1:43870170 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9974G>T (p.Cys3325Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002835590] |
Chr1:43448616 [GRCh38]
Chr1:43914287 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4811G>A (p.Gly1604Glu) |
single nucleotide variant |
not provided [RCV003092049] |
Chr1:43430985 [GRCh38]
Chr1:43896656 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3686G>A (p.Ser1229Asn) |
single nucleotide variant |
not provided [RCV003047597] |
Chr1:43427617 [GRCh38]
Chr1:43893288 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4180G>A (p.Asp1394Asn) |
single nucleotide variant |
not provided [RCV003047607] |
Chr1:43429716 [GRCh38]
Chr1:43895387 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2645+12C>T |
single nucleotide variant |
not provided [RCV002967138] |
Chr1:43425219 [GRCh38]
Chr1:43890890 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1156C>T (p.Arg386Cys) |
single nucleotide variant |
not provided [RCV003092124] |
Chr1:43420218 [GRCh38]
Chr1:43885889 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.664C>T (p.Leu222=) |
single nucleotide variant |
not provided [RCV002963222] |
Chr1:43415993 [GRCh38]
Chr1:43881664 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4603G>C (p.Asp1535His) |
single nucleotide variant |
not provided [RCV003031685] |
Chr1:43430618 [GRCh38]
Chr1:43896289 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6290+5G>C |
single nucleotide variant |
not provided [RCV002834766] |
Chr1:43437513 [GRCh38]
Chr1:43903184 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8870G>T (p.Arg2957Leu) |
single nucleotide variant |
not provided [RCV002627854] |
Chr1:43445938 [GRCh38]
Chr1:43911609 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6923C>T (p.Pro2308Leu) |
single nucleotide variant |
not provided [RCV003049207] |
Chr1:43439650 [GRCh38]
Chr1:43905321 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8662G>C (p.Glu2888Gln) |
single nucleotide variant |
not provided [RCV002577032] |
Chr1:43443633 [GRCh38]
Chr1:43909304 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5191C>T (p.Pro1731Ser) |
single nucleotide variant |
not provided [RCV003031457] |
Chr1:43431818 [GRCh38]
Chr1:43897489 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2395C>T (p.Leu799Phe) |
single nucleotide variant |
not provided [RCV002598634] |
Chr1:43424356 [GRCh38]
Chr1:43890027 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1306A>C (p.Asn436His) |
single nucleotide variant |
not provided [RCV003061824] |
Chr1:43420793 [GRCh38]
Chr1:43886464 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5999T>C (p.Phe2000Ser) |
single nucleotide variant |
not provided [RCV003045446] |
Chr1:43435294 [GRCh38]
Chr1:43900965 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8518C>G (p.Leu2840Val) |
single nucleotide variant |
not provided [RCV002834284] |
Chr1:43443370 [GRCh38]
Chr1:43909041 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8001T>C (p.Ala2667=) |
single nucleotide variant |
not provided [RCV002856875] |
Chr1:43442468 [GRCh38]
Chr1:43908139 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3808C>T (p.Gln1270Ter) |
single nucleotide variant |
not provided [RCV002898894] |
Chr1:43428007 [GRCh38]
Chr1:43893678 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3764G>C (p.Gly1255Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002897411] |
Chr1:43427695 [GRCh38]
Chr1:43893366 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5669C>T (p.Pro1890Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002717636] |
Chr1:43433055 [GRCh38]
Chr1:43898726 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8998-14C>T |
single nucleotide variant |
not provided [RCV002746551] |
Chr1:43446328 [GRCh38]
Chr1:43911999 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1713T>C (p.Asn571=) |
single nucleotide variant |
not provided [RCV002672237] |
Chr1:43422169 [GRCh38]
Chr1:43887840 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9441-11G>A |
single nucleotide variant |
not provided [RCV002597780] |
Chr1:43447838 [GRCh38]
Chr1:43913509 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9540A>G (p.Gly3180=) |
single nucleotide variant |
not provided [RCV002598908] |
Chr1:43447948 [GRCh38]
Chr1:43913619 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10274T>C (p.Phe3425Ser) |
single nucleotide variant |
not provided [RCV003029252] |
Chr1:43450455 [GRCh38]
Chr1:43916126 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.24G>C (p.Pro8=) |
single nucleotide variant |
not provided [RCV002899473] |
Chr1:43389992 [GRCh38]
Chr1:43855663 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5887T>G (p.Cys1963Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002809832] |
Chr1:43434468 [GRCh38]
Chr1:43900139 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5950C>T (p.Leu1984Phe) |
single nucleotide variant |
not provided [RCV003061669] |
Chr1:43435245 [GRCh38]
Chr1:43900916 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4527A>G (p.Leu1509=) |
single nucleotide variant |
not provided [RCV002671952] |
Chr1:43430542 [GRCh38]
Chr1:43896213 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5275-13T>A |
single nucleotide variant |
not provided [RCV002877382] |
Chr1:43432259 [GRCh38]
Chr1:43897930 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7254C>G (p.Gly2418=) |
single nucleotide variant |
not provided [RCV002599727] |
Chr1:43440496 [GRCh38]
Chr1:43906167 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3709T>A (p.Cys1237Ser) |
single nucleotide variant |
not provided [RCV002646653] |
Chr1:43427640 [GRCh38]
Chr1:43893311 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6519C>G (p.Ile2173Met) |
single nucleotide variant |
not provided [RCV002856215] |
Chr1:43438709 [GRCh38]
Chr1:43904380 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6224C>T (p.Ser2075Phe) |
single nucleotide variant |
not provided [RCV003044504] |
Chr1:43437442 [GRCh38]
Chr1:43903113 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4307A>C (p.Gln1436Pro) |
single nucleotide variant |
not provided [RCV003044993] |
Chr1:43429843 [GRCh38]
Chr1:43895514 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4396C>A (p.Arg1466=) |
single nucleotide variant |
not provided [RCV003086571] |
Chr1:43430098 [GRCh38]
Chr1:43895769 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7811C>G (p.Ala2604Gly) |
single nucleotide variant |
not provided [RCV002599263] |
Chr1:43442068 [GRCh38]
Chr1:43907739 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6397-1G>A |
single nucleotide variant |
not provided [RCV002811227] |
Chr1:43437790 [GRCh38]
Chr1:43903461 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.5025-18_5025-17delinsGG |
indel |
not provided [RCV003009368] |
Chr1:43431442..43431443 [GRCh38]
Chr1:43897113..43897114 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1323T>C (p.Tyr441=) |
single nucleotide variant |
not provided [RCV002807281] |
Chr1:43420810 [GRCh38]
Chr1:43886481 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9002G>C (p.Cys3001Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002898239] |
Chr1:43446346 [GRCh38]
Chr1:43912017 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3806C>G (p.Thr1269Ser) |
single nucleotide variant |
not provided [RCV002791760] |
Chr1:43428005 [GRCh38]
Chr1:43893676 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7865C>T (p.Thr2622Ile) |
single nucleotide variant |
not provided [RCV003045713] |
Chr1:43442122 [GRCh38]
Chr1:43907793 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2299A>G (p.Thr767Ala) |
single nucleotide variant |
not provided [RCV003044855] |
Chr1:43424260 [GRCh38]
Chr1:43889931 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3215-10C>A |
single nucleotide variant |
not provided [RCV003009178] |
Chr1:43426705 [GRCh38]
Chr1:43892376 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4166+13C>T |
single nucleotide variant |
not provided [RCV003064962] |
Chr1:43428499 [GRCh38]
Chr1:43894170 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8822G>T (p.Arg2941Leu) |
single nucleotide variant |
not provided [RCV003028334] |
Chr1:43443793 [GRCh38]
Chr1:43909464 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7T>G (p.Ser3Ala) |
single nucleotide variant |
not provided [RCV003063618] |
Chr1:43389975 [GRCh38]
Chr1:43855646 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8419+13G>C |
single nucleotide variant |
not provided [RCV003028400] |
Chr1:43443099 [GRCh38]
Chr1:43908770 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7418C>T (p.Thr2473Ile) |
single nucleotide variant |
not provided [RCV003064752] |
Chr1:43441287 [GRCh38]
Chr1:43906958 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7975-3C>T |
single nucleotide variant |
not provided [RCV002578213] |
Chr1:43442439 [GRCh38]
Chr1:43908110 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7188A>G (p.Leu2396=) |
single nucleotide variant |
not provided [RCV003089301] |
Chr1:43440026 [GRCh38]
Chr1:43905697 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8721T>G (p.Pro2907=) |
single nucleotide variant |
not provided [RCV002834850] |
Chr1:43443692 [GRCh38]
Chr1:43909363 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9979C>T (p.Leu3327=) |
single nucleotide variant |
not provided [RCV002834403] |
Chr1:43448621 [GRCh38]
Chr1:43914292 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5734C>T (p.Pro1912Ser) |
single nucleotide variant |
not provided [RCV002649693] |
Chr1:43433120 [GRCh38]
Chr1:43898791 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1922+11T>C |
single nucleotide variant |
not provided [RCV002833640] |
Chr1:43422643 [GRCh38]
Chr1:43888314 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8560A>G (p.Met2854Val) |
single nucleotide variant |
not provided [RCV003089357] |
Chr1:43443412 [GRCh38]
Chr1:43909083 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1213G>A (p.Val405Ile) |
single nucleotide variant |
not provided [RCV003090981] |
Chr1:43420275 [GRCh38]
Chr1:43885946 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5814T>C (p.Ile1938=) |
single nucleotide variant |
not provided [RCV002899100] |
Chr1:43434395 [GRCh38]
Chr1:43900066 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2624A>G (p.His875Arg) |
single nucleotide variant |
not provided [RCV002966628] |
Chr1:43425186 [GRCh38]
Chr1:43890857 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.975G>C (p.Leu325=) |
single nucleotide variant |
not provided [RCV002629733] |
Chr1:43419829 [GRCh38]
Chr1:43885500 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6180C>T (p.Val2060=) |
single nucleotide variant |
not provided [RCV002600055] |
Chr1:43437316 [GRCh38]
Chr1:43902987 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2722G>C (p.Val908Leu) |
single nucleotide variant |
not provided [RCV002806636] |
Chr1:43425550 [GRCh38]
Chr1:43891221 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1029G>C (p.Arg343=) |
single nucleotide variant |
not provided [RCV002857707] |
Chr1:43419883 [GRCh38]
Chr1:43885554 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7937G>A (p.Arg2646Gln) |
single nucleotide variant |
not provided [RCV003060764] |
Chr1:43442331 [GRCh38]
Chr1:43908002 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7345-5C>T |
single nucleotide variant |
not provided [RCV002963142] |
Chr1:43441209 [GRCh38]
Chr1:43906880 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.273T>A (p.Ala91=) |
single nucleotide variant |
not provided [RCV002811747] |
Chr1:43403720 [GRCh38]
Chr1:43869391 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8152-3C>T |
single nucleotide variant |
not provided [RCV003086791] |
Chr1:43442816 [GRCh38]
Chr1:43908487 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1761G>A (p.Glu587=) |
single nucleotide variant |
not provided [RCV003064369] |
Chr1:43422217 [GRCh38]
Chr1:43887888 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6792+14C>T |
single nucleotide variant |
not provided [RCV003060267] |
Chr1:43439107 [GRCh38]
Chr1:43904778 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7803C>T (p.Arg2601=) |
single nucleotide variant |
not provided [RCV002899306] |
Chr1:43442060 [GRCh38]
Chr1:43907731 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.259G>C (p.Val87Leu) |
single nucleotide variant |
not provided [RCV002856183] |
Chr1:43403706 [GRCh38]
Chr1:43869377 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8626-2A>G |
single nucleotide variant |
not provided [RCV002650961] |
Chr1:43443595 [GRCh38]
Chr1:43909266 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.8500-7T>G |
single nucleotide variant |
not provided [RCV003065643] |
Chr1:43443345 [GRCh38]
Chr1:43909016 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4324A>C (p.Ile1442Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003458152]|Inborn genetic diseases [RCV003167533]|not provided [RCV002649304] |
Chr1:43430026 [GRCh38]
Chr1:43895697 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2905C>T (p.Pro969Ser) |
single nucleotide variant |
not provided [RCV003046671] |
Chr1:43425925 [GRCh38]
Chr1:43891596 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2137G>T (p.Gly713Cys) |
single nucleotide variant |
not provided [RCV003047939] |
Chr1:43423198 [GRCh38]
Chr1:43888869 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6521C>T (p.Thr2174Met) |
single nucleotide variant |
not provided [RCV002651684] |
Chr1:43438711 [GRCh38]
Chr1:43904382 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7874-17C>T |
single nucleotide variant |
not provided [RCV003048855] |
Chr1:43442251 [GRCh38]
Chr1:43907922 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6508+1G>A |
single nucleotide variant |
not provided [RCV003049181] |
Chr1:43437903 [GRCh38]
Chr1:43903574 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.7511+18G>A |
single nucleotide variant |
not provided [RCV002770235] |
Chr1:43441398 [GRCh38]
Chr1:43907069 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4091G>A (p.Ser1364Asn) |
single nucleotide variant |
not provided [RCV002601994] |
Chr1:43428411 [GRCh38]
Chr1:43894082 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.27+19C>T |
single nucleotide variant |
not provided [RCV002598835] |
Chr1:43390014 [GRCh38]
Chr1:43855685 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1288G>A (p.Val430Met) |
single nucleotide variant |
not provided [RCV002629251] |
Chr1:43420775 [GRCh38]
Chr1:43886446 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1497-8T>C |
single nucleotide variant |
not provided [RCV002647647] |
Chr1:43421166 [GRCh38]
Chr1:43886837 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3215-20C>T |
single nucleotide variant |
not provided [RCV003065153] |
Chr1:43426695 [GRCh38]
Chr1:43892366 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9305C>A (p.Thr3102Lys) |
single nucleotide variant |
not provided [RCV003031486] |
Chr1:43447563 [GRCh38]
Chr1:43913234 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9281A>G (p.Tyr3094Cys) |
single nucleotide variant |
not provided [RCV002675855] |
Chr1:43447163 [GRCh38]
Chr1:43912834 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8998-15T>C |
single nucleotide variant |
not provided [RCV003026863] |
Chr1:43446327 [GRCh38]
Chr1:43911998 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2936A>G (p.Asp979Gly) |
single nucleotide variant |
not provided [RCV002598605] |
Chr1:43426044 [GRCh38]
Chr1:43891715 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7583G>A (p.Arg2528His) |
single nucleotide variant |
not provided [RCV003092574] |
Chr1:43441575 [GRCh38]
Chr1:43907246 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8509C>G (p.Leu2837Val) |
single nucleotide variant |
not provided [RCV002814515] |
Chr1:43443361 [GRCh38]
Chr1:43909032 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7345-6C>T |
single nucleotide variant |
not provided [RCV002654185] |
Chr1:43441208 [GRCh38]
Chr1:43906879 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.721A>C (p.Ile241Leu) |
single nucleotide variant |
not provided [RCV002583727] |
Chr1:43416050 [GRCh38]
Chr1:43881721 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10155+11G>T |
single nucleotide variant |
not provided [RCV002943884] |
Chr1:43450182 [GRCh38]
Chr1:43915853 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001190880.3(HYI):c.118C>G (p.Pro40Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002677958] |
Chr1:43453676 [GRCh38]
Chr1:43919347 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.60G>C (p.Met20Ile) |
single nucleotide variant |
not provided [RCV002605235] |
Chr1:43403209 [GRCh38]
Chr1:43868880 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6877+15A>G |
single nucleotide variant |
not provided [RCV003050838] |
Chr1:43439457 [GRCh38]
Chr1:43905128 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8825+9G>T |
single nucleotide variant |
not provided [RCV002814449] |
Chr1:43443805 [GRCh38]
Chr1:43909476 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4796A>T (p.Glu1599Val) |
single nucleotide variant |
not provided [RCV002681030] |
Chr1:43430970 [GRCh38]
Chr1:43896641 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.474C>T (p.Ser158=) |
single nucleotide variant |
not provided [RCV003052187] |
Chr1:43404526 [GRCh38]
Chr1:43870197 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7123C>A (p.Arg2375=) |
single nucleotide variant |
not provided [RCV003049733] |
Chr1:43439961 [GRCh38]
Chr1:43905632 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1922+19C>G |
single nucleotide variant |
not provided [RCV003070099] |
Chr1:43422651 [GRCh38]
Chr1:43888322 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4167-18del |
deletion |
not provided [RCV003050178] |
Chr1:43429684 [GRCh38]
Chr1:43895355 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6877+16C>T |
single nucleotide variant |
not provided [RCV002943969] |
Chr1:43439458 [GRCh38]
Chr1:43905129 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8920A>C (p.Thr2974Pro) |
single nucleotide variant |
not provided [RCV003049901] |
Chr1:43446182 [GRCh38]
Chr1:43911853 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1474C>T (p.Arg492Cys) |
single nucleotide variant |
not provided [RCV003069442] |
Chr1:43420961 [GRCh38]
Chr1:43886632 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7610-13C>T |
single nucleotide variant |
not provided [RCV003067148] |
Chr1:43441673 [GRCh38]
Chr1:43907344 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9157C>T (p.Leu3053Phe) |
single nucleotide variant |
not provided [RCV002605242] |
Chr1:43447039 [GRCh38]
Chr1:43912710 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3230T>A (p.Leu1077Gln) |
single nucleotide variant |
not provided [RCV002604121] |
Chr1:43426730 [GRCh38]
Chr1:43892401 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1734C>T (p.His578=) |
single nucleotide variant |
not provided [RCV002635957] |
Chr1:43422190 [GRCh38]
Chr1:43887861 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8234G>A (p.Gly2745Asp) |
single nucleotide variant |
not provided [RCV003050075] |
Chr1:43442901 [GRCh38]
Chr1:43908572 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8419+14G>T |
single nucleotide variant |
not provided [RCV002633927] |
Chr1:43443100 [GRCh38]
Chr1:43908771 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2038A>G (p.Ile680Val) |
single nucleotide variant |
not provided [RCV002588758] |
Chr1:43423099 [GRCh38]
Chr1:43888770 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7345-17C>G |
single nucleotide variant |
not provided [RCV003066982] |
Chr1:43441197 [GRCh38]
Chr1:43906868 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6878-3C>T |
single nucleotide variant |
not provided [RCV002606545] |
Chr1:43439602 [GRCh38]
Chr1:43905273 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1444C>T (p.Arg482Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003444350]|not provided [RCV003069196] |
Chr1:43420931 [GRCh38]
Chr1:43886602 [GRCh37]
Chr1:1p34.2 |
uncertain significance|not provided |
| NM_001190880.3(HYI):c.811G>A (p.Gly271Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002657291] |
Chr1:43451261 [GRCh38]
Chr1:43916932 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.462G>A (p.Gln154=) |
single nucleotide variant |
not provided [RCV002609688] |
Chr1:43404514 [GRCh38]
Chr1:43870185 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10191A>G (p.Val3397=) |
single nucleotide variant |
not provided [RCV002653017] |
Chr1:43450372 [GRCh38]
Chr1:43916043 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6628-6C>T |
single nucleotide variant |
not provided [RCV003049843] |
Chr1:43438923 [GRCh38]
Chr1:43904594 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7873+14C>G |
single nucleotide variant |
not provided [RCV003071690] |
Chr1:43442144 [GRCh38]
Chr1:43907815 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6972A>G (p.Pro2324=) |
single nucleotide variant |
not provided [RCV002608500] |
Chr1:43439699 [GRCh38]
Chr1:43905370 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1539CTC[1] (p.Ser515del) |
microsatellite |
not provided [RCV002608561] |
Chr1:43421216..43421218 [GRCh38]
Chr1:43886887..43886889 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7874-20G>A |
single nucleotide variant |
not provided [RCV002608566] |
Chr1:43442248 [GRCh38]
Chr1:43907919 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2929+19C>T |
single nucleotide variant |
not provided [RCV002942526] |
Chr1:43425968 [GRCh38]
Chr1:43891639 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4803C>T (p.Pro1601=) |
single nucleotide variant |
not provided [RCV003052663] |
Chr1:43430977 [GRCh38]
Chr1:43896648 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9887G>C (p.Gly3296Ala) |
single nucleotide variant |
not provided [RCV003069536] |
Chr1:43448402 [GRCh38]
Chr1:43914073 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4235G>A (p.Gly1412Glu) |
single nucleotide variant |
not provided [RCV003069550] |
Chr1:43429771 [GRCh38]
Chr1:43895442 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1412A>G (p.His471Arg) |
single nucleotide variant |
not provided [RCV003072034] |
Chr1:43420899 [GRCh38]
Chr1:43886570 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9801G>A (p.Arg3267=) |
single nucleotide variant |
not provided [RCV003050074] |
Chr1:43448316 [GRCh38]
Chr1:43913987 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8917-4del |
deletion |
not provided [RCV002587174] |
Chr1:43446174 [GRCh38]
Chr1:43911845 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7149C>G (p.Ala2383=) |
single nucleotide variant |
not provided [RCV002588328] |
Chr1:43439987 [GRCh38]
Chr1:43905658 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9072+17C>T |
single nucleotide variant |
not provided [RCV002588486] |
Chr1:43446433 [GRCh38]
Chr1:43912104 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10159C>G (p.Leu3387Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002724036] |
Chr1:43450340 [GRCh38]
Chr1:43916011 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.475A>T (p.Ile159Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003457194]|Inborn genetic diseases [RCV003274274]|not provided [RCV002611153] |
Chr1:43404527 [GRCh38]
Chr1:43870198 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9155G>A (p.Arg3052His) |
single nucleotide variant |
not provided [RCV002588728] |
Chr1:43447037 [GRCh38]
Chr1:43912708 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8152-13C>T |
single nucleotide variant |
not provided [RCV002607774] |
Chr1:43442806 [GRCh38]
Chr1:43908477 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2814+18A>G |
single nucleotide variant |
not provided [RCV002607972] |
Chr1:43425660 [GRCh38]
Chr1:43891331 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10011G>A (p.Leu3337=) |
single nucleotide variant |
not provided [RCV003050457] |
Chr1:43448653 [GRCh38]
Chr1:43914324 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3787C>G (p.Arg1263Gly) |
single nucleotide variant |
not provided [RCV002609960] |
Chr1:43427718 [GRCh38]
Chr1:43893389 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3599-11T>C |
single nucleotide variant |
not provided [RCV003066099] |
Chr1:43427519 [GRCh38]
Chr1:43893190 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9569A>G (p.Gln3190Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002722882] |
Chr1:43448084 [GRCh38]
Chr1:43913755 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1933C>A (p.Gln645Lys) |
single nucleotide variant |
not provided [RCV002942102] |
Chr1:43422779 [GRCh38]
Chr1:43888450 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4624G>C (p.Asp1542His) |
single nucleotide variant |
not provided [RCV003071111] |
Chr1:43430639 [GRCh38]
Chr1:43896310 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7763T>A (p.Phe2588Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003218549] |
Chr1:43442020 [GRCh38]
Chr1:43907691 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9640A>G (p.Lys3214Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003224741] |
Chr1:43448155 [GRCh38]
Chr1:43913826 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5746G>A (p.Asp1916Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003215535] |
Chr1:43433132 [GRCh38]
Chr1:43898803 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2288C>T (p.Pro763Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003218121] |
Chr1:43424249 [GRCh38]
Chr1:43889920 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5503A>T (p.Ile1835Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003193452] |
Chr1:43432577 [GRCh38]
Chr1:43898248 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8276T>C (p.Leu2759Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003224742] |
Chr1:43442943 [GRCh38]
Chr1:43908614 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.610C>G (p.Gln204Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003200006] |
Chr1:43415193 [GRCh38]
Chr1:43880864 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7255C>T (p.Arg2419Ter) |
single nucleotide variant |
not provided [RCV003229271] |
Chr1:43440497 [GRCh38]
Chr1:43906168 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.1802G>A (p.Ser601Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003210949] |
Chr1:43422512 [GRCh38]
Chr1:43888183 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6927G>T (p.Leu2309Phe) |
single nucleotide variant |
not provided [RCV003319622] |
Chr1:43439654 [GRCh38]
Chr1:43905325 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.789G>A (p.Thr263=) |
single nucleotide variant |
not provided [RCV003326750] |
Chr1:43416551 [GRCh38]
Chr1:43882222 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9722C>A (p.Ala3241Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003491374]|Inborn genetic diseases [RCV003362295] |
Chr1:43448237 [GRCh38]
Chr1:43913908 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5652C>A (p.Thr1884=) |
single nucleotide variant |
not provided [RCV003456643] |
Chr1:43433038 [GRCh38]
Chr1:43898709 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5847C>G (p.Arg1949=) |
single nucleotide variant |
not provided [RCV003571837] |
Chr1:43434428 [GRCh38]
Chr1:43900099 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4467T>C (p.Leu1489=) |
single nucleotide variant |
not provided [RCV003570318] |
Chr1:43430376 [GRCh38]
Chr1:43896047 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8316G>C (p.Thr2772=) |
single nucleotide variant |
not provided [RCV003570247] |
Chr1:43442983 [GRCh38]
Chr1:43908654 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.661C>T (p.Leu221=) |
single nucleotide variant |
not provided [RCV003570204] |
Chr1:43415990 [GRCh38]
Chr1:43881661 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1059T>C (p.Ser353=) |
single nucleotide variant |
not provided [RCV003874820] |
Chr1:43419913 [GRCh38]
Chr1:43885584 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3317G>A (p.Gly1106Asp) |
single nucleotide variant |
not provided [RCV003543113] |
Chr1:43427063 [GRCh38]
Chr1:43892734 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5603-16A>G |
single nucleotide variant |
not provided [RCV003543121] |
Chr1:43432973 [GRCh38]
Chr1:43898644 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8718G>A (p.Glu2906=) |
single nucleotide variant |
not provided [RCV003406431] |
Chr1:43443689 [GRCh38]
Chr1:43909360 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.651C>T (p.Asp217=) |
single nucleotide variant |
not provided [RCV003406424] |
Chr1:43415980 [GRCh38]
Chr1:43881651 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4191G>A (p.Glu1397=) |
single nucleotide variant |
not provided [RCV003406428] |
Chr1:43429727 [GRCh38]
Chr1:43895398 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9507C>T (p.Val3169=) |
single nucleotide variant |
not provided [RCV003406433] |
Chr1:43447915 [GRCh38]
Chr1:43913586 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.997C>G (p.Pro333Ala) |
single nucleotide variant |
not specified [RCV003404767] |
Chr1:43419851 [GRCh38]
Chr1:43885522 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2355C>T (p.Ser785=) |
single nucleotide variant |
not provided [RCV003406427] |
Chr1:43424316 [GRCh38]
Chr1:43889987 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6121G>A (p.Val2041Met) |
single nucleotide variant |
not provided [RCV003480532] |
Chr1:43437257 [GRCh38]
Chr1:43902928 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1858C>G (p.Leu620Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003448515] |
Chr1:43422568 [GRCh38]
Chr1:43888239 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7370G>A (p.Gly2457Asp) |
single nucleotide variant |
SZT2-related condition [RCV003399614] |
Chr1:43441239 [GRCh38]
Chr1:43906910 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001190880.3(HYI):c.312-19C>G |
single nucleotide variant |
not specified [RCV003404765] |
Chr1:43452338 [GRCh38]
Chr1:43918009 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8075_8089del (p.Ile2692_Leu2696del) |
deletion |
not provided [RCV003441198] |
Chr1:43442538..43442552 [GRCh38]
Chr1:43908209..43908223 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.498+1744C>T |
single nucleotide variant |
not provided [RCV003406423] |
Chr1:43406294 [GRCh38]
Chr1:43871965 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8151+8C>A |
single nucleotide variant |
not provided [RCV003406430] |
Chr1:43442626 [GRCh38]
Chr1:43908297 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1915C>A (p.Leu639Ile) |
single nucleotide variant |
not provided [RCV003406425] |
Chr1:43422625 [GRCh38]
Chr1:43888296 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2220G>T (p.Val740=) |
single nucleotide variant |
not provided [RCV003406426] |
Chr1:43423281 [GRCh38]
Chr1:43888952 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9501G>A (p.Leu3167=) |
single nucleotide variant |
not provided [RCV003406432] |
Chr1:43447909 [GRCh38]
Chr1:43913580 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4362C>T (p.Pro1454=) |
single nucleotide variant |
not provided [RCV003406429] |
Chr1:43430064 [GRCh38]
Chr1:43895735 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1002C>A (p.Gly334=) |
single nucleotide variant |
not provided [RCV003738757] |
Chr1:43419856 [GRCh38]
Chr1:43885527 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.645C>T (p.Ser215=) |
single nucleotide variant |
not provided [RCV003575250] |
Chr1:43415974 [GRCh38]
Chr1:43881645 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.27+18G>A |
single nucleotide variant |
not provided [RCV003578014] |
Chr1:43390013 [GRCh38]
Chr1:43855684 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.558dup (p.Tyr187fs) |
duplication |
not provided [RCV003690248] |
Chr1:43415140..43415141 [GRCh38]
Chr1:43880811..43880812 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.1839C>T (p.Ser613=) |
single nucleotide variant |
not provided [RCV003579330] |
Chr1:43422549 [GRCh38]
Chr1:43888220 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.27+8G>A |
single nucleotide variant |
not provided [RCV003693895] |
Chr1:43390003 [GRCh38]
Chr1:43855674 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.990G>A (p.Glu330=) |
single nucleotide variant |
not provided [RCV003687626] |
Chr1:43419844 [GRCh38]
Chr1:43885515 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6508+18G>A |
single nucleotide variant |
not provided [RCV003578060] |
Chr1:43437920 [GRCh38]
Chr1:43903591 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5024+19G>T |
single nucleotide variant |
not provided [RCV003739898] |
Chr1:43431391 [GRCh38]
Chr1:43897062 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2430G>A (p.Leu810=) |
single nucleotide variant |
not provided [RCV003849344] |
Chr1:43424391 [GRCh38]
Chr1:43890062 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1344C>T (p.Pro448=) |
single nucleotide variant |
not provided [RCV003740322] |
Chr1:43420831 [GRCh38]
Chr1:43886502 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5024+11A>G |
single nucleotide variant |
not provided [RCV003715615] |
Chr1:43431383 [GRCh38]
Chr1:43897054 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1513C>T (p.Gln505Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003489481] |
Chr1:43421190 [GRCh38]
Chr1:43886861 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.189C>G (p.Val63=) |
single nucleotide variant |
not provided [RCV003546198] |
Chr1:43403636 [GRCh38]
Chr1:43869307 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3804G>T (p.Arg1268=) |
single nucleotide variant |
not provided [RCV003694250] |
Chr1:43428003 [GRCh38]
Chr1:43893674 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5814dup (p.Arg1939fs) |
duplication |
not provided [RCV003829230] |
Chr1:43434393..43434394 [GRCh38]
Chr1:43900064..43900065 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.5551C>A (p.Arg1851=) |
single nucleotide variant |
not provided [RCV003576654] |
Chr1:43432748 [GRCh38]
Chr1:43898419 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10164A>C (p.Thr3388=) |
single nucleotide variant |
not provided [RCV003546311] |
Chr1:43450345 [GRCh38]
Chr1:43916016 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6855T>C (p.Gly2285=) |
single nucleotide variant |
not provided [RCV003692591] |
Chr1:43439420 [GRCh38]
Chr1:43905091 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.27+6GGGC[4] |
microsatellite |
not provided [RCV003880199] |
Chr1:43390000..43390001 [GRCh38]
Chr1:43855671..43855672 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4917-15T>C |
single nucleotide variant |
not provided [RCV003578249] |
Chr1:43431250 [GRCh38]
Chr1:43896921 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6997C>T (p.Leu2333=) |
single nucleotide variant |
not provided [RCV003544382] |
Chr1:43439724 [GRCh38]
Chr1:43905395 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7345-11A>G |
single nucleotide variant |
not provided [RCV003662764] |
Chr1:43441203 [GRCh38]
Chr1:43906874 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6681C>T (p.Pro2227=) |
single nucleotide variant |
not provided [RCV003574033] |
Chr1:43438982 [GRCh38]
Chr1:43904653 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8715G>A (p.Glu2905=) |
single nucleotide variant |
not provided [RCV003575366] |
Chr1:43443686 [GRCh38]
Chr1:43909357 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7983G>A (p.Leu2661=) |
single nucleotide variant |
not provided [RCV003547462] |
Chr1:43442450 [GRCh38]
Chr1:43908121 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3424A>C (p.Thr1142Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003883431] |
Chr1:43427170 [GRCh38]
Chr1:43892841 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1096C>T (p.Gln366Ter) |
single nucleotide variant |
not provided [RCV003687982] |
Chr1:43420158 [GRCh38]
Chr1:43885829 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7323G>T (p.Arg2441=) |
single nucleotide variant |
not provided [RCV003739034] |
Chr1:43440565 [GRCh38]
Chr1:43906236 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9105G>A (p.Lys3035=) |
single nucleotide variant |
not provided [RCV003571864] |
Chr1:43446987 [GRCh38]
Chr1:43912658 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3599-16C>T |
single nucleotide variant |
not provided [RCV003661690] |
Chr1:43427514 [GRCh38]
Chr1:43893185 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5902C>G (p.Gln1968Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003491661] |
Chr1:43434483 [GRCh38]
Chr1:43900154 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8727G>A (p.Leu2909=) |
single nucleotide variant |
not provided [RCV003876089] |
Chr1:43443698 [GRCh38]
Chr1:43909369 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9441-17C>T |
single nucleotide variant |
not provided [RCV003661816] |
Chr1:43447832 [GRCh38]
Chr1:43913503 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6396+15C>T |
single nucleotide variant |
not provided [RCV003714998] |
Chr1:43437715 [GRCh38]
Chr1:43903386 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.499-13A>C |
single nucleotide variant |
not provided [RCV003544381] |
Chr1:43415069 [GRCh38]
Chr1:43880740 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9372G>A (p.Lys3124=) |
single nucleotide variant |
not provided [RCV003578972] |
Chr1:43447630 [GRCh38]
Chr1:43913301 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2595T>C (p.Cys865=) |
single nucleotide variant |
not provided [RCV003575248] |
Chr1:43425157 [GRCh38]
Chr1:43890828 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1860G>C (p.Leu620=) |
single nucleotide variant |
not provided [RCV003578981] |
Chr1:43422570 [GRCh38]
Chr1:43888241 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1053G>A (p.Leu351=) |
single nucleotide variant |
not provided [RCV003739323] |
Chr1:43419907 [GRCh38]
Chr1:43885578 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8283A>C (p.Thr2761=) |
single nucleotide variant |
not provided [RCV003544102] |
Chr1:43442950 [GRCh38]
Chr1:43908621 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.10254_10260del (p.Val3419fs) |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV003491662] |
Chr1:43450433..43450439 [GRCh38]
Chr1:43916104..43916110 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4825T>C (p.Leu1609=) |
single nucleotide variant |
not provided [RCV003882363] |
Chr1:43430999 [GRCh38]
Chr1:43896670 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9531G>A (p.Glu3177=) |
single nucleotide variant |
not provided [RCV003661979] |
Chr1:43447939 [GRCh38]
Chr1:43913610 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9702G>A (p.Glu3234=) |
single nucleotide variant |
not provided [RCV003544232] |
Chr1:43448217 [GRCh38]
Chr1:43913888 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3813C>T (p.Phe1271=) |
single nucleotide variant |
not provided [RCV003575244] |
Chr1:43428012 [GRCh38]
Chr1:43893683 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4752G>T (p.Val1584=) |
single nucleotide variant |
not provided [RCV003544502] |
Chr1:43430767 [GRCh38]
Chr1:43896438 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4440T>C (p.Ser1480=) |
single nucleotide variant |
not provided [RCV003691083] |
Chr1:43430349 [GRCh38]
Chr1:43896020 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4309-6C>T |
single nucleotide variant |
not provided [RCV003573744] |
Chr1:43430005 [GRCh38]
Chr1:43895676 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.426C>T (p.Cys142=) |
single nucleotide variant |
not provided [RCV003660042] |
Chr1:43404478 [GRCh38]
Chr1:43870149 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8949G>A (p.Leu2983=) |
single nucleotide variant |
not provided [RCV003714808] |
Chr1:43446211 [GRCh38]
Chr1:43911882 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.499-6T>G |
single nucleotide variant |
not provided [RCV003545706] |
Chr1:43415076 [GRCh38]
Chr1:43880747 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8826-9T>C |
single nucleotide variant |
not provided [RCV003546401] |
Chr1:43445885 [GRCh38]
Chr1:43911556 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9577G>A (p.Val3193Met) |
single nucleotide variant |
not provided [RCV003575904] |
Chr1:43448092 [GRCh38]
Chr1:43913763 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8054_8066del (p.Gln2685fs) |
deletion |
not provided [RCV003547849] |
Chr1:43442519..43442531 [GRCh38]
Chr1:43908190..43908202 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.8097G>A (p.Lys2699=) |
single nucleotide variant |
not provided [RCV003574612] |
Chr1:43442564 [GRCh38]
Chr1:43908235 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8063G>T (p.Arg2688Leu) |
single nucleotide variant |
not provided [RCV003660420] |
Chr1:43442530 [GRCh38]
Chr1:43908201 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7873+1G>T |
single nucleotide variant |
not provided [RCV003687442] |
Chr1:43442131 [GRCh38]
Chr1:43907802 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.795G>C (p.Gly265=) |
single nucleotide variant |
not provided [RCV003574321] |
Chr1:43416557 [GRCh38]
Chr1:43882228 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7873+9A>C |
single nucleotide variant |
not provided [RCV003689125] |
Chr1:43442139 [GRCh38]
Chr1:43907810 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3803+7G>T |
single nucleotide variant |
not provided [RCV003545189] |
Chr1:43427741 [GRCh38]
Chr1:43893412 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6996A>C (p.Gln2332His) |
single nucleotide variant |
not provided [RCV003688563] |
Chr1:43439723 [GRCh38]
Chr1:43905394 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7755A>C (p.Pro2585=) |
single nucleotide variant |
not provided [RCV003877047] |
Chr1:43442012 [GRCh38]
Chr1:43907683 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9366C>T (p.His3122=) |
single nucleotide variant |
not provided [RCV003545903] |
Chr1:43447624 [GRCh38]
Chr1:43913295 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6397-20G>C |
single nucleotide variant |
not provided [RCV003692447] |
Chr1:43437771 [GRCh38]
Chr1:43903442 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6081C>A (p.Ala2027=) |
single nucleotide variant |
not provided [RCV003880759] |
Chr1:43437217 [GRCh38]
Chr1:43902888 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8917-15T>G |
single nucleotide variant |
not provided [RCV003689560] |
Chr1:43446164 [GRCh38]
Chr1:43911835 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1882G>C (p.Val628Leu) |
single nucleotide variant |
not provided [RCV003545590] |
Chr1:43422592 [GRCh38]
Chr1:43888263 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8916+15A>C |
single nucleotide variant |
not provided [RCV003545379] |
Chr1:43445999 [GRCh38]
Chr1:43911670 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5028C>T (p.His1676=) |
single nucleotide variant |
not provided [RCV003851359] |
Chr1:43431463 [GRCh38]
Chr1:43897134 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9073-15C>A |
single nucleotide variant |
not provided [RCV003579619] |
Chr1:43446940 [GRCh38]
Chr1:43912611 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5829G>A (p.Gly1943=) |
single nucleotide variant |
not provided [RCV003664487] |
Chr1:43434410 [GRCh38]
Chr1:43900081 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3717C>A (p.Val1239=) |
single nucleotide variant |
not provided [RCV003851612] |
Chr1:43427648 [GRCh38]
Chr1:43893319 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6627+21del |
deletion |
not provided [RCV003699459] |
Chr1:43438837 [GRCh38]
Chr1:43904508 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8826-15C>T |
single nucleotide variant |
not provided [RCV003717668] |
Chr1:43445879 [GRCh38]
Chr1:43911550 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2255+20_2255+61del |
deletion |
not provided [RCV003701310] |
Chr1:43423319..43423360 [GRCh38]
Chr1:43888990..43889031 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4817G>T (p.Arg1606Leu) |
single nucleotide variant |
not provided [RCV003667879] |
Chr1:43430991 [GRCh38]
Chr1:43896662 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8976C>T (p.Ile2992=) |
single nucleotide variant |
not provided [RCV003670553] |
Chr1:43446238 [GRCh38]
Chr1:43911909 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5088+7C>A |
single nucleotide variant |
not provided [RCV003703790] |
Chr1:43431530 [GRCh38]
Chr1:43897201 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5531-20C>T |
single nucleotide variant |
not provided [RCV003665462] |
Chr1:43432708 [GRCh38]
Chr1:43898379 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5406C>T (p.His1802=) |
single nucleotide variant |
not provided [RCV003561379] |
Chr1:43432403 [GRCh38]
Chr1:43898074 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7956A>G (p.Leu2652=) |
single nucleotide variant |
not provided [RCV003674385] |
Chr1:43442350 [GRCh38]
Chr1:43908021 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1959C>G (p.Val653=) |
single nucleotide variant |
not provided [RCV003850383] |
Chr1:43422805 [GRCh38]
Chr1:43888476 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.956C>G (p.Ala319Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003741148] |
Chr1:43419810 [GRCh38]
Chr1:43885481 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3309+20C>T |
single nucleotide variant |
not provided [RCV003810870] |
Chr1:43426829 [GRCh38]
Chr1:43892500 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8825+8C>T |
single nucleotide variant |
not provided [RCV003726602] |
Chr1:43443804 [GRCh38]
Chr1:43909475 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9564-6C>A |
single nucleotide variant |
not provided [RCV003726323] |
Chr1:43448073 [GRCh38]
Chr1:43913744 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.28-14C>T |
single nucleotide variant |
not provided [RCV003668710] |
Chr1:43403163 [GRCh38]
Chr1:43868834 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.27+17C>T |
single nucleotide variant |
not provided [RCV003851692] |
Chr1:43390012 [GRCh38]
Chr1:43855683 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3599-20G>T |
single nucleotide variant |
not provided [RCV003561805] |
Chr1:43427510 [GRCh38]
Chr1:43893181 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3534A>G (p.Leu1178=) |
single nucleotide variant |
not provided [RCV003668888] |
Chr1:43427381 [GRCh38]
Chr1:43893052 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-16C>T |
single nucleotide variant |
not provided [RCV003699748] |
Chr1:43442252 [GRCh38]
Chr1:43907923 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1161G>T (p.Arg387=) |
single nucleotide variant |
not provided [RCV003854644] |
Chr1:43420223 [GRCh38]
Chr1:43885894 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.153+18G>A |
single nucleotide variant |
not provided [RCV003658966] |
Chr1:43403320 [GRCh38]
Chr1:43868991 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9933C>A (p.Val3311=) |
single nucleotide variant |
not provided [RCV003672471] |
Chr1:43448448 [GRCh38]
Chr1:43914119 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2472-16C>T |
single nucleotide variant |
not provided [RCV003561926] |
Chr1:43424768 [GRCh38]
Chr1:43890439 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9150T>C (p.His3050=) |
single nucleotide variant |
not provided [RCV003726286] |
Chr1:43447032 [GRCh38]
Chr1:43912703 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3433+8C>A |
single nucleotide variant |
not provided [RCV003667664] |
Chr1:43427187 [GRCh38]
Chr1:43892858 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5025-16C>T |
single nucleotide variant |
not provided [RCV003559583] |
Chr1:43431444 [GRCh38]
Chr1:43897115 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1836C>T (p.Ile612=) |
single nucleotide variant |
not provided [RCV003701077] |
Chr1:43422546 [GRCh38]
Chr1:43888217 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9516T>C (p.Cys3172=) |
single nucleotide variant |
not provided [RCV003667783] |
Chr1:43447924 [GRCh38]
Chr1:43913595 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.99T>G (p.Ala33=) |
single nucleotide variant |
not provided [RCV003561585] |
Chr1:43403248 [GRCh38]
Chr1:43868919 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6034+7dup |
duplication |
not provided [RCV003700407] |
Chr1:43435335..43435336 [GRCh38]
Chr1:43901006..43901007 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6306C>T (p.Ser2102=) |
single nucleotide variant |
not provided [RCV003700413] |
Chr1:43437610 [GRCh38]
Chr1:43903281 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9645A>G (p.Pro3215=) |
single nucleotide variant |
not provided [RCV003672226] |
Chr1:43448160 [GRCh38]
Chr1:43913831 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6352G>A (p.Ala2118Thr) |
single nucleotide variant |
not provided [RCV003817163] |
Chr1:43437656 [GRCh38]
Chr1:43903327 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3471C>A (p.Pro1157=) |
single nucleotide variant |
not provided [RCV003701337] |
Chr1:43427318 [GRCh38]
Chr1:43892989 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8826-4A>G |
single nucleotide variant |
not provided [RCV003668048] |
Chr1:43445890 [GRCh38]
Chr1:43911561 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4755C>T (p.Cys1585=) |
single nucleotide variant |
not provided [RCV003668403] |
Chr1:43430770 [GRCh38]
Chr1:43896441 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4824C>G (p.Pro1608=) |
single nucleotide variant |
not provided [RCV003838792] |
Chr1:43430998 [GRCh38]
Chr1:43896669 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3870T>C (p.Ala1290=) |
single nucleotide variant |
not provided [RCV003702359] |
Chr1:43428069 [GRCh38]
Chr1:43893740 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5829G>T (p.Gly1943=) |
single nucleotide variant |
not provided [RCV003549572] |
Chr1:43434410 [GRCh38]
Chr1:43900081 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3711T>A (p.Cys1237Ter) |
single nucleotide variant |
not provided [RCV003723352] |
Chr1:43427642 [GRCh38]
Chr1:43893313 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.254C>G (p.Thr85Ser) |
single nucleotide variant |
not provided [RCV003696966] |
Chr1:43403701 [GRCh38]
Chr1:43869372 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5523A>G (p.Pro1841=) |
single nucleotide variant |
not provided [RCV003664549] |
Chr1:43432597 [GRCh38]
Chr1:43898268 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2454C>G (p.Leu818=) |
single nucleotide variant |
not provided [RCV003724731] |
Chr1:43424415 [GRCh38]
Chr1:43890086 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8500-20T>C |
single nucleotide variant |
not provided [RCV003815043] |
Chr1:43443332 [GRCh38]
Chr1:43909003 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8709C>T (p.Ala2903=) |
single nucleotide variant |
not provided [RCV003560244] |
Chr1:43443680 [GRCh38]
Chr1:43909351 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8917-17C>G |
single nucleotide variant |
not provided [RCV003559372] |
Chr1:43446162 [GRCh38]
Chr1:43911833 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5602+8G>T |
single nucleotide variant |
not provided [RCV003672349] |
Chr1:43432807 [GRCh38]
Chr1:43898478 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8070T>C (p.His2690=) |
single nucleotide variant |
not provided [RCV003668284] |
Chr1:43442537 [GRCh38]
Chr1:43908208 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6628-19T>A |
single nucleotide variant |
not provided [RCV003854653] |
Chr1:43438910 [GRCh38]
Chr1:43904581 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7965G>A (p.Val2655=) |
single nucleotide variant |
not provided [RCV003668387] |
Chr1:43442359 [GRCh38]
Chr1:43908030 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6555G>T (p.Leu2185=) |
single nucleotide variant |
not provided [RCV003559520] |
Chr1:43438745 [GRCh38]
Chr1:43904416 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8151+6del |
deletion |
not provided [RCV003851690] |
Chr1:43442624 [GRCh38]
Chr1:43908295 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4353T>C (p.Pro1451=) |
single nucleotide variant |
not provided [RCV003705760] |
Chr1:43430055 [GRCh38]
Chr1:43895726 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8379T>C (p.His2793=) |
single nucleotide variant |
not provided [RCV003859837] |
Chr1:43443046 [GRCh38]
Chr1:43908717 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7104G>A (p.Val2368=) |
single nucleotide variant |
not provided [RCV003564357] |
Chr1:43439942 [GRCh38]
Chr1:43905613 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7874-10C>G |
single nucleotide variant |
not provided [RCV003554258] |
Chr1:43442258 [GRCh38]
Chr1:43907929 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.499-8C>T |
single nucleotide variant |
not provided [RCV003565044] |
Chr1:43415074 [GRCh38]
Chr1:43880745 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8826-9T>G |
single nucleotide variant |
not provided [RCV003677349] |
Chr1:43445885 [GRCh38]
Chr1:43911556 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5088+16C>G |
single nucleotide variant |
not provided [RCV003846351] |
Chr1:43431539 [GRCh38]
Chr1:43897210 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2872C>T (p.Gln958Ter) |
single nucleotide variant |
not provided [RCV003683171] |
Chr1:43425892 [GRCh38]
Chr1:43891563 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9440+12_9440+13del |
microsatellite |
not provided [RCV003705427] |
Chr1:43447707..43447708 [GRCh38]
Chr1:43913378..43913379 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4480+1G>T |
single nucleotide variant |
not provided [RCV003565004] |
Chr1:43430390 [GRCh38]
Chr1:43896061 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.6290+13del |
deletion |
not provided [RCV003729823] |
Chr1:43437520 [GRCh38]
Chr1:43903191 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7269T>C (p.Phe2423=) |
single nucleotide variant |
not provided [RCV003677420] |
Chr1:43440511 [GRCh38]
Chr1:43906182 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.28-16G>A |
single nucleotide variant |
not provided [RCV003858801] |
Chr1:43403161 [GRCh38]
Chr1:43868832 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3225G>C (p.Gly1075=) |
single nucleotide variant |
not provided [RCV003566585] |
Chr1:43426725 [GRCh38]
Chr1:43892396 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8973C>T (p.Ile2991=) |
single nucleotide variant |
not provided [RCV003566600] |
Chr1:43446235 [GRCh38]
Chr1:43911906 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5442+12C>G |
single nucleotide variant |
not provided [RCV003550796] |
Chr1:43432451 [GRCh38]
Chr1:43898122 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1626+16_1626+25del |
deletion |
not provided [RCV003820245] |
Chr1:43421319..43421328 [GRCh38]
Chr1:43886990..43886999 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.915C>T (p.Gly305=) |
single nucleotide variant |
not provided [RCV003564257] |
Chr1:43419769 [GRCh38]
Chr1:43885440 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5024+7C>A |
single nucleotide variant |
not provided [RCV003735899] |
Chr1:43431379 [GRCh38]
Chr1:43897050 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3598+16C>G |
single nucleotide variant |
not provided [RCV003860395] |
Chr1:43427461 [GRCh38]
Chr1:43893132 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.912T>C (p.Phe304=) |
single nucleotide variant |
not provided [RCV003554566] |
Chr1:43419766 [GRCh38]
Chr1:43885437 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7665A>C (p.Pro2555=) |
single nucleotide variant |
not provided [RCV003841613] |
Chr1:43441741 [GRCh38]
Chr1:43907412 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5442+9C>A |
single nucleotide variant |
not provided [RCV003551320] |
Chr1:43432448 [GRCh38]
Chr1:43898119 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7698del (p.Ser2567fs) |
deletion |
not provided [RCV003562238] |
Chr1:43441773 [GRCh38]
Chr1:43907444 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.5677T>C (p.Leu1893=) |
single nucleotide variant |
not provided [RCV003734140] |
Chr1:43433063 [GRCh38]
Chr1:43898734 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7305A>G (p.Pro2435=) |
single nucleotide variant |
not provided [RCV003563078] |
Chr1:43440547 [GRCh38]
Chr1:43906218 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4270A>T (p.Arg1424Ter) |
single nucleotide variant |
not provided [RCV003677571] |
Chr1:43429806 [GRCh38]
Chr1:43895477 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.6188-3C>T |
single nucleotide variant |
not provided [RCV002572495] |
Chr1:43437403 [GRCh38]
Chr1:43903074 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6359C>G (p.Ser2120Cys) |
single nucleotide variant |
not provided [RCV002792059] |
Chr1:43437663 [GRCh38]
Chr1:43903334 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.10087-15C>T |
single nucleotide variant |
not provided [RCV002895630] |
Chr1:43450088 [GRCh38]
Chr1:43915759 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6231del (p.Asn2078fs) |
deletion |
not provided [RCV002810339] |
Chr1:43437449 [GRCh38]
Chr1:43903120 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.147G>A (p.Glu49=) |
single nucleotide variant |
not provided [RCV002922795] |
Chr1:43403296 [GRCh38]
Chr1:43868967 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8465A>G (p.Gln2822Arg) |
single nucleotide variant |
not provided [RCV002807069] |
Chr1:43443233 [GRCh38]
Chr1:43908904 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2814+15A>G |
single nucleotide variant |
not provided [RCV002658173] |
Chr1:43425657 [GRCh38]
Chr1:43891328 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7512-17dup |
duplication |
not specified [RCV003155893] |
Chr1:43441486..43441487 [GRCh38]
Chr1:43907157..43907158 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1583G>A (p.Ser528Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003211434] |
Chr1:43421260 [GRCh38]
Chr1:43886931 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8200C>T (p.Arg2734Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003201186] |
Chr1:43442867 [GRCh38]
Chr1:43908538 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001190880.3(HYI):c.311+284G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003140837] |
Chr1:43453102 [GRCh38]
Chr1:43918773 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7861C>T (p.Pro2621Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003140838] |
Chr1:43442118 [GRCh38]
Chr1:43907789 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.489G>T (p.Gln163His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003140839] |
Chr1:43404541 [GRCh38]
Chr1:43870212 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9656C>A (p.Pro3219His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003140840] |
Chr1:43448171 [GRCh38]
Chr1:43913842 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2473G>T (p.Val825Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003140841] |
Chr1:43424785 [GRCh38]
Chr1:43890456 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5419A>G (p.Arg1807Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003140843] |
Chr1:43432416 [GRCh38]
Chr1:43898087 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7107G>A (p.Gln2369=) |
single nucleotide variant |
not provided [RCV003568952] |
Chr1:43439945 [GRCh38]
Chr1:43905616 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1108_1111del (p.Phe370fs) |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV003340776] |
Chr1:43420168..43420171 [GRCh38]
Chr1:43885839..43885842 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.7488dup (p.Asp2497fs) |
duplication |
Developmental and epileptic encephalopathy, 18 [RCV003340949]|not provided [RCV003565649] |
Chr1:43441356..43441357 [GRCh38]
Chr1:43907027..43907028 [GRCh37]
Chr1:1p34.2 |
pathogenic|likely pathogenic |
| NM_001365999.1(SZT2):c.9653T>C (p.Leu3218Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003357260] |
Chr1:43448168 [GRCh38]
Chr1:43913839 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.5984G>A (p.Arg1995His) |
single nucleotide variant |
Inborn genetic diseases [RCV003342760] |
Chr1:43435279 [GRCh38]
Chr1:43900950 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4640T>C (p.Leu1547Ser) |
single nucleotide variant |
not provided [RCV003332550] |
Chr1:43430655 [GRCh38]
Chr1:43896326 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| Single allele |
inversion |
Bilateral polymicrogyria [RCV003459046] |
Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3 |
likely pathogenic |
| NM_001365999.1(SZT2):c.4578A>G (p.Leu1526=) |
single nucleotide variant |
not provided [RCV003567989] |
Chr1:43430593 [GRCh38]
Chr1:43896264 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7951C>T (p.Leu2651=) |
single nucleotide variant |
not provided [RCV003680660] |
Chr1:43442345 [GRCh38]
Chr1:43908016 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5665G>A (p.Ala1889Thr) |
single nucleotide variant |
not provided [RCV003568179] |
Chr1:43433051 [GRCh38]
Chr1:43898722 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.519C>G (p.Leu173=) |
single nucleotide variant |
not provided [RCV003551652] |
Chr1:43415102 [GRCh38]
Chr1:43880773 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7499C>A (p.Ala2500Asp) |
single nucleotide variant |
not provided [RCV003729324] |
Chr1:43441368 [GRCh38]
Chr1:43907039 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2645+7C>T |
single nucleotide variant |
not provided [RCV003566272] |
Chr1:43425214 [GRCh38]
Chr1:43890885 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9831C>G (p.Thr3277=) |
single nucleotide variant |
not provided [RCV003554065] |
Chr1:43448346 [GRCh38]
Chr1:43914017 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3599-15_3599-11dup |
duplication |
not provided [RCV003553803] |
Chr1:43427514..43427515 [GRCh38]
Chr1:43893185..43893186 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3801C>T (p.Phe1267=) |
single nucleotide variant |
not provided [RCV003679581] |
Chr1:43427732 [GRCh38]
Chr1:43893403 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.27+15G>A |
single nucleotide variant |
not provided [RCV003728121] |
Chr1:43390010 [GRCh38]
Chr1:43855681 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6877+17G>A |
single nucleotide variant |
not provided [RCV003553332] |
Chr1:43439459 [GRCh38]
Chr1:43905130 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8151+9T>G |
single nucleotide variant |
not provided [RCV003734743] |
Chr1:43442627 [GRCh38]
Chr1:43908298 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.2551-20A>C |
single nucleotide variant |
not provided [RCV003678347] |
Chr1:43425093 [GRCh38]
Chr1:43890764 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5530+17G>A |
single nucleotide variant |
not provided [RCV003555535] |
Chr1:43432621 [GRCh38]
Chr1:43898292 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4545G>A (p.Glu1515=) |
single nucleotide variant |
not provided [RCV003731051] |
Chr1:43430560 [GRCh38]
Chr1:43896231 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3044-7C>T |
single nucleotide variant |
SZT2-related condition [RCV003939580] |
Chr1:43426361 [GRCh38]
Chr1:43892032 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3648dup (p.Gln1217fs) |
duplication |
not provided [RCV003557503] |
Chr1:43427578..43427579 [GRCh38]
Chr1:43893249..43893250 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.4916+25dup |
duplication |
not provided [RCV003722368] |
Chr1:43431109..43431110 [GRCh38]
Chr1:43896780..43896781 [GRCh37]
Chr1:1p34.2 |
benign |
| NM_001365999.1(SZT2):c.1452G>A (p.Leu484=) |
single nucleotide variant |
not provided [RCV003722434] |
Chr1:43420939 [GRCh38]
Chr1:43886610 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.664C>A (p.Leu222Met) |
single nucleotide variant |
not provided [RCV003566582] |
Chr1:43415993 [GRCh38]
Chr1:43881664 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8769T>C (p.Tyr2923=) |
single nucleotide variant |
not provided [RCV003682687] |
Chr1:43443740 [GRCh38]
Chr1:43909411 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5352C>T (p.Gly1784=) |
single nucleotide variant |
not provided [RCV003675938] |
Chr1:43432349 [GRCh38]
Chr1:43898020 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8151+14T>C |
single nucleotide variant |
not provided [RCV003863710] |
Chr1:43442632 [GRCh38]
Chr1:43908303 [GRCh37]
Chr1:1p34.2 |
likely benign |
| GRCh38/hg38 1p34.2(chr1:42278946-43598390) |
copy number loss |
Epilepsy syndrome [RCV003986075] |
Chr1:42278946..43598390 [GRCh38]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.3285A>G (p.Thr1095=) |
single nucleotide variant |
not provided [RCV003861764] |
Chr1:43426785 [GRCh38]
Chr1:43892456 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4309-7A>G |
single nucleotide variant |
not provided [RCV003708364] |
Chr1:43430004 [GRCh38]
Chr1:43895675 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9048A>T (p.Pro3016=) |
single nucleotide variant |
not provided [RCV003721175] |
Chr1:43446392 [GRCh38]
Chr1:43912063 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2255+8C>T |
single nucleotide variant |
not provided [RCV003562650] |
Chr1:43423324 [GRCh38]
Chr1:43888995 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6993G>A (p.Glu2331=) |
single nucleotide variant |
not provided [RCV003677747] |
Chr1:43439720 [GRCh38]
Chr1:43905391 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3352C>T (p.Gln1118Ter) |
single nucleotide variant |
not provided [RCV003567259] |
Chr1:43427098 [GRCh38]
Chr1:43892769 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.7323G>A (p.Arg2441=) |
single nucleotide variant |
not provided [RCV003736089] |
Chr1:43440565 [GRCh38]
Chr1:43906236 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5274+18C>T |
single nucleotide variant |
not provided [RCV003719500] |
Chr1:43431919 [GRCh38]
Chr1:43897590 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2814+20T>G |
single nucleotide variant |
not provided [RCV003554815] |
Chr1:43425662 [GRCh38]
Chr1:43891333 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8535C>T (p.Arg2845=) |
single nucleotide variant |
not provided [RCV003684439] |
Chr1:43443387 [GRCh38]
Chr1:43909058 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4917-17G>A |
single nucleotide variant |
not provided [RCV003860541] |
Chr1:43431248 [GRCh38]
Chr1:43896919 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7647G>A (p.Val2549=) |
single nucleotide variant |
not provided [RCV003564351] |
Chr1:43441723 [GRCh38]
Chr1:43907394 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5991G>A (p.Glu1997=) |
single nucleotide variant |
not provided [RCV003868820] |
Chr1:43435286 [GRCh38]
Chr1:43900957 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6366C>T (p.Ser2122=) |
single nucleotide variant |
not provided [RCV003684760] |
Chr1:43437670 [GRCh38]
Chr1:43903341 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7882G>A (p.Ala2628Thr) |
single nucleotide variant |
not provided [RCV003737981] |
Chr1:43442276 [GRCh38]
Chr1:43907947 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1222C>T (p.Arg408Ter) |
single nucleotide variant |
not provided [RCV003721650] |
Chr1:43420284 [GRCh38]
Chr1:43885955 [GRCh37]
Chr1:1p34.2 |
pathogenic |
| NM_001365999.1(SZT2):c.9234C>T (p.Phe3078=) |
single nucleotide variant |
not provided [RCV003867045] |
Chr1:43447116 [GRCh38]
Chr1:43912787 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8470C>T (p.Arg2824Cys) |
single nucleotide variant |
not provided [RCV003721771] |
Chr1:43443238 [GRCh38]
Chr1:43908909 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.3294C>T (p.Ser1098=) |
single nucleotide variant |
not provided [RCV003556995] |
Chr1:43426794 [GRCh38]
Chr1:43892465 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.499-20C>G |
single nucleotide variant |
not provided [RCV003557058] |
Chr1:43415062 [GRCh38]
Chr1:43880733 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6508+1G>T |
single nucleotide variant |
not provided [RCV003704757] |
Chr1:43437903 [GRCh38]
Chr1:43903574 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.5603-9C>A |
single nucleotide variant |
not provided [RCV003555211] |
Chr1:43432980 [GRCh38]
Chr1:43898651 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4815C>T (p.Gly1605=) |
single nucleotide variant |
not provided [RCV003722527] |
Chr1:43430989 [GRCh38]
Chr1:43896660 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1093T>G (p.Ser365Ala) |
single nucleotide variant |
not provided [RCV003730873] |
Chr1:43420155 [GRCh38]
Chr1:43885826 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.27+13C>T |
single nucleotide variant |
not provided [RCV003555464] |
Chr1:43390008 [GRCh38]
Chr1:43855679 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5024+7_5024+9del |
microsatellite |
not provided [RCV003819332] |
Chr1:43431376..43431378 [GRCh38]
Chr1:43897047..43897049 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8791C>T (p.Leu2931=) |
single nucleotide variant |
not provided [RCV003737200] |
Chr1:43443762 [GRCh38]
Chr1:43909433 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7650C>G (p.Ser2550=) |
single nucleotide variant |
not provided [RCV003722669] |
Chr1:43441726 [GRCh38]
Chr1:43907397 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6522G>A (p.Thr2174=) |
single nucleotide variant |
not provided [RCV003737440] |
Chr1:43438712 [GRCh38]
Chr1:43904383 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9327G>T (p.Gln3109His) |
single nucleotide variant |
not provided [RCV003723037] |
Chr1:43447585 [GRCh38]
Chr1:43913256 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7437C>T (p.His2479=) |
single nucleotide variant |
not provided [RCV003737487] |
Chr1:43441306 [GRCh38]
Chr1:43906977 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8626-15T>A |
single nucleotide variant |
not provided [RCV003721847] |
Chr1:43443582 [GRCh38]
Chr1:43909253 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6438A>G (p.Ser2146=) |
single nucleotide variant |
not provided [RCV003723260] |
Chr1:43437832 [GRCh38]
Chr1:43903503 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8826C>T (p.Ser2942=) |
single nucleotide variant |
not provided [RCV003719558] |
Chr1:43445894 [GRCh38]
Chr1:43911565 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.9867G>T (p.Gly3289=) |
single nucleotide variant |
not provided [RCV003870001] |
Chr1:43448382 [GRCh38]
Chr1:43914053 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3215-10C>T |
single nucleotide variant |
not provided [RCV003681251] |
Chr1:43426705 [GRCh38]
Chr1:43892376 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8152-18C>T |
single nucleotide variant |
not provided [RCV003721708] |
Chr1:43442801 [GRCh38]
Chr1:43908472 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6188-9T>C |
single nucleotide variant |
not provided [RCV003862101] |
Chr1:43437397 [GRCh38]
Chr1:43903068 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4917-6G>C |
single nucleotide variant |
not provided [RCV003567158] |
Chr1:43431259 [GRCh38]
Chr1:43896930 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4838G>A (p.Ser1613Asn) |
single nucleotide variant |
not provided [RCV003708900] |
Chr1:43431012 [GRCh38]
Chr1:43896683 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.6035-10C>G |
single nucleotide variant |
not provided [RCV003685642] |
Chr1:43437161 [GRCh38]
Chr1:43902832 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6490_6495del (p.His2164_Gly2165del) |
deletion |
not provided [RCV003551151] |
Chr1:43437884..43437889 [GRCh38]
Chr1:43903555..43903560 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.2460C>T (p.Ser820=) |
single nucleotide variant |
not provided [RCV003731800] |
Chr1:43424421 [GRCh38]
Chr1:43890092 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5031A>T (p.Pro1677=) |
single nucleotide variant |
not provided [RCV003711791] |
Chr1:43431466 [GRCh38]
Chr1:43897137 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6700C>T (p.Leu2234Phe) |
single nucleotide variant |
not provided [RCV003556912] |
Chr1:43439001 [GRCh38]
Chr1:43904672 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.8154G>A (p.Glu2718=) |
single nucleotide variant |
not provided [RCV003731933] |
Chr1:43442821 [GRCh38]
Chr1:43908492 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6429C>T (p.Ser2143=) |
single nucleotide variant |
not provided [RCV003566024] |
Chr1:43437823 [GRCh38]
Chr1:43903494 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1118A>G (p.His373Arg) |
single nucleotide variant |
not provided [RCV003732071] |
Chr1:43420180 [GRCh38]
Chr1:43885851 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1338C>T (p.Pro446=) |
single nucleotide variant |
not provided [RCV003823437] |
Chr1:43420825 [GRCh38]
Chr1:43886496 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.7245C>G (p.Ser2415Arg) |
single nucleotide variant |
not provided [RCV003708901] |
Chr1:43440487 [GRCh38]
Chr1:43906158 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.1185G>A (p.Val395=) |
single nucleotide variant |
not provided [RCV003675599] |
Chr1:43420247 [GRCh38]
Chr1:43885918 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5275-12C>T |
single nucleotide variant |
not provided [RCV003551049] |
Chr1:43432260 [GRCh38]
Chr1:43897931 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5640T>C (p.Gly1880=) |
single nucleotide variant |
not provided [RCV003705054] |
Chr1:43433026 [GRCh38]
Chr1:43898697 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5024+16C>T |
single nucleotide variant |
not provided [RCV003542872] |
Chr1:43431388 [GRCh38]
Chr1:43897059 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9286+12A>G |
single nucleotide variant |
not provided [RCV003709119] |
Chr1:43447180 [GRCh38]
Chr1:43912851 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9429G>A (p.Ser3143=) |
single nucleotide variant |
not provided [RCV003732545] |
Chr1:43447687 [GRCh38]
Chr1:43913358 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5657G>C (p.Gly1886Ala) |
single nucleotide variant |
not provided [RCV003709241] |
Chr1:43433043 [GRCh38]
Chr1:43898714 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.4494C>T (p.Ala1498=) |
single nucleotide variant |
not provided [RCV003563442] |
Chr1:43430509 [GRCh38]
Chr1:43896180 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8392C>T (p.Leu2798=) |
single nucleotide variant |
not provided [RCV003709219] |
Chr1:43443059 [GRCh38]
Chr1:43908730 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6034+13C>T |
single nucleotide variant |
not provided [RCV003709351] |
Chr1:43435342 [GRCh38]
Chr1:43901013 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3309+19C>G |
single nucleotide variant |
not provided [RCV003819680] |
Chr1:43426828 [GRCh38]
Chr1:43892499 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1090+13C>G |
single nucleotide variant |
not provided [RCV003563701] |
Chr1:43419957 [GRCh38]
Chr1:43885628 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5602+9G>A |
single nucleotide variant |
not provided [RCV003556405] |
Chr1:43432808 [GRCh38]
Chr1:43898479 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2379C>T (p.Leu793=) |
single nucleotide variant |
not provided [RCV003680205] |
Chr1:43424340 [GRCh38]
Chr1:43890011 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.1938C>T (p.Pro646=) |
single nucleotide variant |
not provided [RCV003554766] |
Chr1:43422784 [GRCh38]
Chr1:43888455 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2892A>G (p.Glu964=) |
single nucleotide variant |
not provided [RCV003562718] |
Chr1:43425912 [GRCh38]
Chr1:43891583 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6684C>T (p.Thr2228=) |
single nucleotide variant |
not provided [RCV003706600] |
Chr1:43438985 [GRCh38]
Chr1:43904656 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8559C>A (p.Ala2853=) |
single nucleotide variant |
not provided [RCV003678672] |
Chr1:43443411 [GRCh38]
Chr1:43909082 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2471+14G>C |
single nucleotide variant |
not provided [RCV003818667] |
Chr1:43424446 [GRCh38]
Chr1:43890117 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.630+14A>G |
single nucleotide variant |
not provided [RCV003731384] |
Chr1:43415227 [GRCh38]
Chr1:43880898 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5442+16G>T |
single nucleotide variant |
not provided [RCV003554977] |
Chr1:43432455 [GRCh38]
Chr1:43898126 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.8076C>T (p.Ile2692=) |
single nucleotide variant |
not provided [RCV003823350] |
Chr1:43442543 [GRCh38]
Chr1:43908214 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4992C>T (p.Leu1664=) |
single nucleotide variant |
not provided [RCV003727600] |
Chr1:43431340 [GRCh38]
Chr1:43897011 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6628-9A>G |
single nucleotide variant |
not provided [RCV003731573] |
Chr1:43438920 [GRCh38]
Chr1:43904591 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5602+3_5602+6dup |
duplication |
not provided [RCV003704578] |
Chr1:43432801..43432802 [GRCh38]
Chr1:43898472..43898473 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.6112T>G (p.Cys2038Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003988975] |
Chr1:43437248 [GRCh38]
Chr1:43902919 [GRCh37] |
uncertain significance |
| NM_001365999.1(SZT2):c.5749T>G (p.Phe1917Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 18 [RCV003985169] |
Chr1:43433135 [GRCh38]
Chr1:43898806 [GRCh37]
Chr1:1p34.2 |
uncertain significance |
| NM_001365999.1(SZT2):c.7707T>G (p.Ala2569=) |
single nucleotide variant |
SZT2-related condition [RCV003896946] |
Chr1:43441783 [GRCh38]
Chr1:43907454 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.4699del (p.Leu1567fs) |
deletion |
Developmental and epileptic encephalopathy, 18 [RCV003985155] |
Chr1:43430713 [GRCh38]
Chr1:43896384 [GRCh37]
Chr1:1p34.2 |
likely pathogenic |
| NM_001365999.1(SZT2):c.9867G>A (p.Gly3289=) |
single nucleotide variant |
SZT2-related condition [RCV003976812] |
Chr1:43448382 [GRCh38]
Chr1:43914053 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001190880.3(HYI):c.540C>T (p.Asn180=) |
single nucleotide variant |
not provided [RCV003884145] |
Chr1:43451813 [GRCh38]
Chr1:43917484 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.3058C>T (p.Pro1020Ser) |
single nucleotide variant |
SZT2-related condition [RCV003944035] |
Chr1:43426382 [GRCh38]
Chr1:43892053 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9888G>T (p.Gly3296=) |
single nucleotide variant |
not provided [RCV003885135] |
Chr1:43448403 [GRCh38]
Chr1:43914074 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.9072+13G>C |
single nucleotide variant |
not provided [RCV003675178] |
Chr1:43446429 [GRCh38]
Chr1:43912100 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.5904+19C>T |
single nucleotide variant |
not provided [RCV003679391] |
Chr1:43434504 [GRCh38]
Chr1:43900175 [GRCh37]
Chr1:1p34.2 |
likely benign |
| NM_001365999.1(SZT2):c.2301A>G (p.Thr767=) |
single nucleotide variant |
not provided [RCV003732031] |
Chr1:43424262 [GRCh38]
Chr1:43889933 [GRCh37]
Chr1:1p34.2 |
likely benign |
