NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000543215] |
ChrX:63638180 [GRCh38] ChrX:62858060 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001080627]|Inborn genetic diseases [RCV002316549]|not provided [RCV000827555] |
ChrX:63638112 [GRCh38] ChrX:62857992 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000022860] |
ChrX:63785142 [GRCh38] ChrX:63005022 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000011796] |
ChrX:63724557 [GRCh38] ChrX:62944437 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_015185.2(ARHGEF9):c.382-1727A>T |
single nucleotide variant |
Lung cancer [RCV000102699] |
ChrX:63699031 [GRCh38] ChrX:62918911 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-11.2(chrX:63514988-64270642)x3 |
copy number gain |
See cases [RCV000050563] |
ChrX:63514988..64270642 [GRCh38] ChrX:63086231..63490522 [GRCh37] ChrX:62651593..63407247 [NCBI36] ChrX:Xq11.1-11.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2 |
copy number gain |
See cases [RCV000052414] |
ChrX:55895084..65038751 [GRCh38] ChrX:55921517..64258631 [GRCh37] ChrX:55938242..64175356 [NCBI36] ChrX:Xp11.21-q11.2 |
pathogenic |
GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 |
copy number gain |
See cases [RCV000052415] |
ChrX:62712219..71136309 [GRCh38] ChrX:61931689..70356159 [GRCh37] ChrX:61848414..70272884 [NCBI36] ChrX:Xq11.1-13.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 |
copy number loss |
See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_015185.2(ARHGEF9):c.244G>A (p.Gly82Arg) |
single nucleotide variant |
Malignant melanoma [RCV000073232] |
ChrX:63706395 [GRCh38] ChrX:62926275 [GRCh37] ChrX:62843000 [NCBI36] ChrX:Xq11.1 |
not provided |
NM_001353921.2(ARHGEF9):c.1066C>A (p.Leu356Ile) |
single nucleotide variant |
not provided [RCV000087223] |
ChrX:63665897 [GRCh38] ChrX:62885777 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001079282]|Inborn genetic diseases [RCV002433607]|not provided [RCV001719860]|not specified [RCV000421684] |
ChrX:63724693 [GRCh38] ChrX:62944573 [GRCh37] ChrX:Xq11.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001086909]|Inborn genetic diseases [RCV002316294]|not provided [RCV000116416]|not specified [RCV000594671] |
ChrX:63678480 [GRCh38] ChrX:62898360 [GRCh37] ChrX:Xq11.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001004738] |
ChrX:63644019 [GRCh38] ChrX:62863899 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.72G>A (p.Trp24Ter) |
single nucleotide variant |
not provided [RCV003221442] |
ChrX:63724670 [GRCh38] ChrX:62944550 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.1391-4C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001349161] |
ChrX:63638213 [GRCh38] ChrX:62858093 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 |
copy number gain |
See cases [RCV000134569] |
ChrX:62712219..78605009 [GRCh38] ChrX:61931689..77860506 [GRCh37] ChrX:61848414..77747162 [NCBI36] ChrX:Xq11.1-21.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 |
copy number loss |
See cases [RCV000135306] |
ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq11.1-11.2(chrX:63253804-63911433)x3 |
copy number gain |
See cases [RCV000137464] |
ChrX:63253804..63911433 [GRCh38] ChrX:62473681..63131313 [GRCh37] ChrX:62390406..63048038 [NCBI36] ChrX:Xq11.1-11.2 |
uncertain significance |
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 |
copy number loss |
See cases [RCV000137414] |
ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2 |
copy number gain |
See cases [RCV000137371] |
ChrX:56127875..63867853 [GRCh38] ChrX:56154308..63087733 [GRCh37] ChrX:56171033..63004458 [NCBI36] ChrX:Xp11.21-q11.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) |
copy number loss |
See cases [RCV000141742] |
ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
pathogenic |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 |
copy number loss |
See cases [RCV000142334] |
ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 |
copy number gain |
See cases [RCV000142756] |
ChrX:52809123..65305544 [GRCh38] ChrX:52838147..64525424 [GRCh37] ChrX:52854872..64442149 [NCBI36] ChrX:Xp11.22-q11.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 |
copy number loss |
See cases [RCV000143131] |
ChrX:56431359..76557419 [GRCh38] ChrX:56457792..75777827 [GRCh37] ChrX:56474517..75694231 [NCBI36] ChrX:Xp11.21-q13.3 |
pathogenic |
GRCh38/hg38 Xq11.1-11.2(chrX:63500531-64177350)x3 |
copy number gain |
See cases [RCV000143777] |
ChrX:63500531..64177350 [GRCh38] ChrX:62720411..63397230 [GRCh37] ChrX:62637136..63313955 [NCBI36] ChrX:Xq11.1-11.2 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.266G>T (p.Gly89Val) |
single nucleotide variant |
not specified [RCV000195209] |
ChrX:63706394 [GRCh38] ChrX:62926274 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002056983]|not specified [RCV000193241] |
ChrX:63678374 [GRCh38] ChrX:62898254 [GRCh37] ChrX:Xq11.1 |
benign|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000656417] |
ChrX:63674063 [GRCh38] ChrX:62893943 [GRCh37] ChrX:Xq11.1 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001081782]|Inborn genetic diseases [RCV002314988]|not provided [RCV000726610]|not specified [RCV000596169] |
ChrX:63706309 [GRCh38] ChrX:62926189 [GRCh37] ChrX:Xq11.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000558962]|not provided [RCV003437256] |
ChrX:63655590 [GRCh38] ChrX:62875470 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001040965]|Inborn genetic diseases [RCV000210722]|not provided [RCV001786341] |
ChrX:63665930 [GRCh38] ChrX:62885810 [GRCh37] ChrX:Xq11.1 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 |
copy number gain |
See cases [RCV000239889] |
ChrX:53085607..67176333 [GRCh37] ChrX:Xp11.22-q12 |
pathogenic |
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003117408]|not specified [RCV000600474] |
ChrX:63706426 [GRCh38] ChrX:62926306 [GRCh37] ChrX:Xq11.1 |
likely benign |
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 |
copy number gain |
See cases [RCV000240019] |
ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1 |
pathogenic |
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 |
copy number loss |
See cases [RCV000511311] |
ChrX:55240087..78225374 [GRCh37] ChrX:Xp11.21-q21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-11.2(chrX:62862203-63490522)x3 |
copy number gain |
See cases [RCV000240536] |
ChrX:62862203..63490522 [GRCh37] ChrX:Xq11.1-11.2 |
uncertain significance |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001088789]|Inborn genetic diseases [RCV002311404]|not provided [RCV000276846] |
ChrX:63655702 [GRCh38] ChrX:62875582 [GRCh37] ChrX:Xq11.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353921.2(ARHGEF9):c.1238T>C (p.Phe413Ser) |
single nucleotide variant |
not provided [RCV000489622] |
ChrX:63655577 [GRCh38] ChrX:62875457 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.820T>C (p.Tyr274His) |
single nucleotide variant |
not provided [RCV000489653] |
ChrX:63674163 [GRCh38] ChrX:62894043 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000585853] |
ChrX:63697145 [GRCh38] ChrX:62917025 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001004681]|not provided [RCV000596832] |
ChrX:63706329 [GRCh38] ChrX:62926209 [GRCh37] ChrX:Xq11.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353921.2(ARHGEF9):c.1112G>T (p.Gly371Val) |
single nucleotide variant |
not provided [RCV000392236] |
ChrX:63655703 [GRCh38] ChrX:62875583 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001211094]|not provided [RCV000328422] |
ChrX:63706379 [GRCh38] ChrX:62926259 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000640879]|Inborn genetic diseases [RCV001265790] |
ChrX:63638120 [GRCh38] ChrX:62858000 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001205062]|not provided [RCV000522842] |
ChrX:63638060 [GRCh38] ChrX:62857940 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.99G>A (p.Glu33=) |
single nucleotide variant |
not provided [RCV000592901] |
ChrX:63724643 [GRCh38] ChrX:62944523 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000640877] |
ChrX:63638064 [GRCh38] ChrX:62857944 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1175A>G (p.Asn392Ser) |
single nucleotide variant |
not provided [RCV000523793] |
ChrX:63655640 [GRCh38] ChrX:62875520 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003322611]|not provided [RCV000656310] |
ChrX:63665886 [GRCh38] ChrX:62885766 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-11.2(chrX:62970571-63052696)x1 |
copy number loss |
See cases [RCV000447371] |
ChrX:62970571..63052696 [GRCh37] ChrX:Xq11.1-11.2 |
uncertain significance |
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000685616]|not provided [RCV000430990] |
ChrX:63665903 [GRCh38] ChrX:62885783 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.816-9T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001328864]|not specified [RCV000445002] |
ChrX:63674176 [GRCh38] ChrX:62894056 [GRCh37] ChrX:Xq11.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353921.2(ARHGEF9):c.583-18T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002062678]|not specified [RCV000420918] |
ChrX:63678590 [GRCh38] ChrX:62898470 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000554220]|Inborn genetic diseases [RCV002318432]|not provided [RCV001703818] |
ChrX:63674044 [GRCh38] ChrX:62893924 [GRCh37] ChrX:Xq11.1 |
benign|likely benign |
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000550451]|Inborn genetic diseases [RCV002318450]|not provided [RCV001712253]|not specified [RCV000431314] |
ChrX:63697125 [GRCh38] ChrX:62917005 [GRCh37] ChrX:Xq11.1 |
benign|likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.*7C>G |
single nucleotide variant |
not specified [RCV000437997] |
ChrX:63638021 [GRCh38] ChrX:62857901 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1018G>A (p.Gly340Ser) |
single nucleotide variant |
not provided [RCV000424142] |
ChrX:63665945 [GRCh38] ChrX:62885825 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001205908]|Inborn genetic diseases [RCV000624397]|not provided [RCV001712246] |
ChrX:63638129 [GRCh38] ChrX:62858009 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.389A>G (p.Lys130Arg) |
single nucleotide variant |
not provided [RCV000442109] |
ChrX:63706271 [GRCh38] ChrX:62926151 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.31-29639A>T |
single nucleotide variant |
not specified [RCV000421222] |
ChrX:63754350 [GRCh38] ChrX:62974230 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002525382]|not provided [RCV000428238] |
ChrX:63666014 [GRCh38] ChrX:62885894 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000869068]|not specified [RCV000419119] |
ChrX:63674098 [GRCh38] ChrX:62893978 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.948C>A (p.Gly316=) |
single nucleotide variant |
not specified [RCV000439582] |
ChrX:63666015 [GRCh38] ChrX:62885895 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.934C>A (p.Leu312Ile) |
single nucleotide variant |
not provided [RCV000439755] |
ChrX:63674049 [GRCh38] ChrX:62893929 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1078-18C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002522565]|not specified [RCV000429452] |
ChrX:63655755 [GRCh38] ChrX:62875635 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.561A>T (p.Ile187=) |
single nucleotide variant |
not specified [RCV000439912] |
ChrX:63697146 [GRCh38] ChrX:62917026 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1148T>C (p.Ile383Thr) |
single nucleotide variant |
not provided [RCV000430844] |
ChrX:63655667 [GRCh38] ChrX:62875547 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1506C>T (p.Thr502=) |
single nucleotide variant |
not specified [RCV000419982] |
ChrX:63638094 [GRCh38] ChrX:62857974 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=) |
single nucleotide variant |
not specified [RCV000430102] |
ChrX:63697143 [GRCh38] ChrX:62917023 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000869156]|not specified [RCV000426584] |
ChrX:63697128 [GRCh38] ChrX:62917008 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002063376]|not specified [RCV000430247] |
ChrX:63678378 [GRCh38] ChrX:62898258 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001512194]|not provided [RCV000867536] |
ChrX:63678408 [GRCh38] ChrX:62898288 [GRCh37] ChrX:Xq11.1 |
benign|likely benign |
NM_001353921.2(ARHGEF9):c.1218T>A (p.Thr406=) |
single nucleotide variant |
not specified [RCV000440712] |
ChrX:63655597 [GRCh38] ChrX:62875477 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.289T>C (p.Cys97Arg) |
single nucleotide variant |
not provided [RCV001712402] |
ChrX:63706371 [GRCh38] ChrX:62926251 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.946-16C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002062685]|not specified [RCV000430698] |
ChrX:63666033 [GRCh38] ChrX:62885913 [GRCh37] ChrX:Xq11.1 |
benign|likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys) |
single nucleotide variant |
not provided [RCV000943470]|not specified [RCV000503468] |
ChrX:63724576 [GRCh38] ChrX:62944456 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000496205]|Global developmental delay [RCV002286412]|not provided [RCV000627195] |
ChrX:63674097 [GRCh38] ChrX:62893977 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000525240]|Inborn genetic diseases [RCV002455964]|not specified [RCV000501708] |
ChrX:63706288 [GRCh38] ChrX:62926168 [GRCh37] ChrX:Xq11.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001353921.2(ARHGEF9):c.901A>T (p.Ile301Phe) |
single nucleotide variant |
not specified [RCV000499378] |
ChrX:63674082 [GRCh38] ChrX:62893962 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
NM_001353921.2(ARHGEF9):c.744T>C (p.Thr248=) |
single nucleotide variant |
not specified [RCV000499915] |
ChrX:63678411 [GRCh38] ChrX:62898291 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000723327]|not provided [RCV000498530] |
ChrX:63706328 [GRCh38] ChrX:62926208 [GRCh37] ChrX:Xq11.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.31-29642del |
deletion |
not specified [RCV000601780] |
ChrX:63754353 [GRCh38] ChrX:62974233 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000535284] |
ChrX:63655522 [GRCh38] ChrX:62875402 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000536493]|Inborn genetic diseases [RCV002456124] |
ChrX:63706396 [GRCh38] ChrX:62926276 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000537955] |
ChrX:63697143 [GRCh38] ChrX:62917023 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000934629]|not provided [RCV001698022] |
ChrX:63643984 [GRCh38] ChrX:62863864 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly) |
single nucleotide variant |
not provided [RCV003313619] |
ChrX:63724648 [GRCh38] ChrX:62944528 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.815+8A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001403206] |
ChrX:63678332 [GRCh38] ChrX:62898212 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.726C>A (p.Ile242=) |
single nucleotide variant |
not specified [RCV000600619] |
ChrX:63678429 [GRCh38] ChrX:62898309 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000640878] |
ChrX:63697129 [GRCh38] ChrX:62917009 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.583-11dup |
duplication |
Developmental and epileptic encephalopathy, 8 [RCV000640881]|not provided [RCV000840201] |
ChrX:63678579..63678580 [GRCh38] ChrX:62898459..62898460 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.31-29583C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002064057]|not specified [RCV000613520] |
ChrX:63754294 [GRCh38] ChrX:62974174 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.815+8A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000526726] |
ChrX:63678332 [GRCh38] ChrX:62898212 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001437658]|not provided [RCV001697358] |
ChrX:63785122 [GRCh38] ChrX:63005002 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.946-4C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001511607]|Inborn genetic diseases [RCV002377287]|not specified [RCV000611579] |
ChrX:63666021 [GRCh38] ChrX:62885901 [GRCh37] ChrX:Xq11.1 |
benign|likely benign |
NM_001353921.2(ARHGEF9):c.816-12_816-11del |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV002064032]|not specified [RCV000607449] |
ChrX:63674178..63674179 [GRCh38] ChrX:62894058..62894059 [GRCh37] ChrX:Xq11.1 |
benign|likely benign |
GRCh37/hg19 Xq11.1(chrX:62754362-62931498)x0 |
copy number loss |
See cases [RCV000512232] |
ChrX:62754362..62931498 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000687487] |
ChrX:63638198 [GRCh38] ChrX:62858078 [GRCh37] ChrX:Xq11.1 |
benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.582+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000702363]|not provided [RCV002249418] |
ChrX:63697124 [GRCh38] ChrX:62917004 [GRCh37] ChrX:Xq11.1 |
pathogenic|likely pathogenic |
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000686743] |
ChrX:63697265 [GRCh38] ChrX:62917145 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000701679] |
ChrX:63697256 [GRCh38] ChrX:62917136 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000693059]|not provided [RCV002261181]|not specified [RCV002222605] |
ChrX:63678488 [GRCh38] ChrX:62898368 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001516079]|Inborn genetic diseases [RCV002314572]|not provided [RCV000731180] |
ChrX:63655632 [GRCh38] ChrX:62875512 [GRCh37] ChrX:Xq11.1 |
benign|likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) |
single nucleotide variant |
Autism spectrum disorder [RCV001249525]|Developmental and epileptic encephalopathy, 8 [RCV000702734]|not provided [RCV000991545] |
ChrX:63638126 [GRCh38] ChrX:62858006 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000688747] |
ChrX:63674061 [GRCh38] ChrX:62893941 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000705283] |
ChrX:63706406 [GRCh38] ChrX:62926286 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000691206] |
ChrX:63655521 [GRCh38] ChrX:62875401 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.87G>A (p.Met29Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002313605] |
ChrX:63724655 [GRCh38] ChrX:62944535 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000863705]|Inborn genetic diseases [RCV002318791]|not provided [RCV001702553] |
ChrX:63638070 [GRCh38] ChrX:62857950 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318308] |
ChrX:63638118 [GRCh38] ChrX:62857998 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.305G>T (p.Arg102Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002317947] |
ChrX:63706355 [GRCh38] ChrX:62926235 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001463397]|Inborn genetic diseases [RCV002318179] |
ChrX:63665952 [GRCh38] ChrX:62885832 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000815511]|Inborn genetic diseases [RCV002318192] |
ChrX:63665995 [GRCh38] ChrX:62885875 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.432G>A (p.Arg144=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001504045]|Inborn genetic diseases [RCV002318254] |
ChrX:63697275 [GRCh38] ChrX:62917155 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001520799]|Inborn genetic diseases [RCV002318262] |
ChrX:63724637 [GRCh38] ChrX:62944517 [GRCh37] ChrX:Xq11.1 |
benign|likely benign |
NM_001353921.2(ARHGEF9):c.1078-3T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001004720] |
ChrX:63655740 [GRCh38] ChrX:62875620 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.815+175T>C |
single nucleotide variant |
not provided [RCV001564125] |
ChrX:63678165 [GRCh38] ChrX:62898045 [GRCh37] ChrX:Xq11.1 |
likely benign |
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 |
copy number loss |
not provided [RCV000753535] |
ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1390+224G>A |
single nucleotide variant |
not provided [RCV001725102] |
ChrX:63643756 [GRCh38] ChrX:62863636 [GRCh37] ChrX:Xq11.1 |
benign |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1078-324C>A |
single nucleotide variant |
not provided [RCV001583631] |
ChrX:63656061 [GRCh38] ChrX:62875941 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV000991201] |
ChrX:63655509 [GRCh38] ChrX:62875389 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.815+302C>T |
single nucleotide variant |
not provided [RCV001550136] |
ChrX:63678038 [GRCh38] ChrX:62897918 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000904139] |
ChrX:63678396 [GRCh38] ChrX:62898276 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.402+7A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000866627] |
ChrX:63706251 [GRCh38] ChrX:62926131 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000864883] |
ChrX:63638157 [GRCh38] ChrX:62858037 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001058524] |
ChrX:63655622 [GRCh38] ChrX:62875502 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.31-29459T>C |
single nucleotide variant |
Epilepsy [RCV000781962] |
ChrX:63754170 [GRCh38] ChrX:62974050 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.211-5C>T |
single nucleotide variant |
Epilepsy [RCV000781963] |
ChrX:63706454 [GRCh38] ChrX:62926334 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1322-49T>G |
single nucleotide variant |
Epilepsy [RCV000781964]|not provided [RCV001712789] |
ChrX:63644097 [GRCh38] ChrX:62863977 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.*146G>C |
single nucleotide variant |
Epilepsy [RCV000781965] |
ChrX:63637882 [GRCh38] ChrX:62857762 [GRCh37] ChrX:Xq11.1 |
likely benign |
NC_000023.11:g.63678580dup |
duplication |
not provided [RCV000840201] |
ChrX:Xq11.1 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000910246] |
ChrX:63706279 [GRCh38] ChrX:62926159 [GRCh37] ChrX:Xq11.1 |
likely benign |
46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated circulating creatine kinase concentration [RCV000856573] |
ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001423454] |
ChrX:63724544 [GRCh38] ChrX:62944424 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys) |
single nucleotide variant |
Intellectual disability [RCV001251680] |
ChrX:63638195 [GRCh38] ChrX:62858075 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.403-3C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000817337] |
ChrX:63697307 [GRCh38] ChrX:62917187 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000811210] |
ChrX:63643981 [GRCh38] ChrX:62863861 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) |
single nucleotide variant |
ARHGEF9-related neurodevelopmental disorder [RCV003128417]|Developmental and epileptic encephalopathy, 8 [RCV000803773]|Inborn genetic diseases [RCV002345802] |
ChrX:63697151 [GRCh38] ChrX:62917031 [GRCh37] ChrX:Xq11.1 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000809049] |
ChrX:63638167 [GRCh38] ChrX:62858047 [GRCh37] ChrX:Xq11.1 |
benign|uncertain significance |
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 |
copy number loss |
not provided [RCV000849932] |
ChrX:61882086..69173640 [GRCh37] ChrX:Xq11.1-13.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000811075] |
ChrX:63665941 [GRCh38] ChrX:62885821 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000819297] |
ChrX:63678367 [GRCh38] ChrX:62898247 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000824886] |
ChrX:63665992 [GRCh38] ChrX:62885872 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000798857] |
ChrX:63785117 [GRCh38] ChrX:63004997 [GRCh37] ChrX:Xq11.1 |
benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000810840] |
ChrX:63724666 [GRCh38] ChrX:62944546 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000808976] |
ChrX:63638135 [GRCh38] ChrX:62858015 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000823146] |
ChrX:63678516 [GRCh38] ChrX:62898396 [GRCh37] ChrX:Xq11.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001044516] |
ChrX:63724711 [GRCh38] ChrX:62944591 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xq11.1(chrX:62828965-62891087)x3 |
copy number gain |
not provided [RCV000847720] |
ChrX:62828965..62891087 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001047208] |
ChrX:63697286 [GRCh38] ChrX:62917166 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1261dup (p.Ile421fs) |
duplication |
not provided [RCV001008461] |
ChrX:63655553..63655554 [GRCh38] ChrX:62875433..62875434 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.16G>A (p.Gly6Ser) |
single nucleotide variant |
Autism spectrum disorder [RCV001249524] |
ChrX:63785130 [GRCh38] ChrX:63005010 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.31-29588A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001209350] |
ChrX:63754299 [GRCh38] ChrX:62974179 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001207472] |
ChrX:63706399 [GRCh38] ChrX:62926279 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001224727]|Inborn genetic diseases [RCV003259172] |
ChrX:63644040 [GRCh38] ChrX:62863920 [GRCh37] ChrX:Xq11.1 |
benign|likely benign|uncertain significance |
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 |
copy number loss |
not provided [RCV000845670] |
ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His) |
single nucleotide variant |
not provided [RCV000995925] |
ChrX:63706292 [GRCh38] ChrX:62926172 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup) |
duplication |
Developmental and epileptic encephalopathy, 8 [RCV001247499]|not provided [RCV003222273] |
ChrX:63655686..63655687 [GRCh38] ChrX:62875566..62875567 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.881G>A (p.Arg294His) |
single nucleotide variant |
Intellectual disability [RCV001249522] |
ChrX:63674102 [GRCh38] ChrX:62893982 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001198047]|not provided [RCV001569841] |
ChrX:63678503 [GRCh38] ChrX:62898383 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003108245] |
ChrX:63674062 [GRCh38] ChrX:62893942 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.583-296del |
deletion |
not provided [RCV001575690] |
ChrX:63678868 [GRCh38] ChrX:62898748 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.995T>C (p.Met332Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003292690] |
ChrX:63665968 [GRCh38] ChrX:62885848 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1390+249_1390+250dup |
duplication |
not provided [RCV001684532] |
ChrX:63643717..63643718 [GRCh38] ChrX:62863597..62863598 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1322-31A>G |
single nucleotide variant |
not provided [RCV001586917] |
ChrX:63644079 [GRCh38] ChrX:62863959 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1546A>G (p.Ser516Gly) |
single nucleotide variant |
not provided [RCV001552875] |
ChrX:63638054 [GRCh38] ChrX:62857934 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.*148CA[18] |
microsatellite |
not provided [RCV001657046] |
ChrX:63637846..63637847 [GRCh38] ChrX:62857726..62857727 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1391-7A>G |
single nucleotide variant |
not provided [RCV000910613] |
ChrX:63638216 [GRCh38] ChrX:62858096 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001218561] |
ChrX:63724650 [GRCh38] ChrX:62944530 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1141G>T (p.Val381Phe) |
single nucleotide variant |
Intellectual disability [RCV001249521] |
ChrX:63655674 [GRCh38] ChrX:62875554 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001224908] |
ChrX:63655567 [GRCh38] ChrX:62875447 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.946-333AG[13] |
microsatellite |
not provided [RCV001563169] |
ChrX:63666326..63666327 [GRCh38] ChrX:62886206..62886207 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV000990844] |
ChrX:63724564 [GRCh38] ChrX:62944444 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1390+262del |
deletion |
not provided [RCV001576387] |
ChrX:63643718 [GRCh38] ChrX:62863598 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.582+107A>G |
single nucleotide variant |
not provided [RCV001718191] |
ChrX:63697018 [GRCh38] ChrX:62916898 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1322-133dup |
duplication |
not provided [RCV001718293] |
ChrX:63644167..63644168 [GRCh38] ChrX:62864047..62864048 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.215G>A (p.Trp72Ter) |
single nucleotide variant |
not provided [RCV001008675] |
ChrX:63706445 [GRCh38] ChrX:62926325 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.*148CA[16] |
microsatellite |
not provided [RCV001651891] |
ChrX:63637847..63637848 [GRCh38] ChrX:62857727..62857728 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.31-29709dup |
duplication |
not provided [RCV001718193] |
ChrX:63754408..63754409 [GRCh38] ChrX:62974288..62974289 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003142040]|not provided [RCV001092794] |
ChrX:63666008 [GRCh38] ChrX:62885888 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1078-1G>A |
single nucleotide variant |
not provided [RCV001092793] |
ChrX:63655738 [GRCh38] ChrX:62875618 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.1322-133_1322-132dup |
duplication |
not provided [RCV001714659] |
ChrX:63644167..63644168 [GRCh38] ChrX:62864047..62864048 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001034099] |
ChrX:63655671 [GRCh38] ChrX:62875551 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001045879] |
ChrX:63706341 [GRCh38] ChrX:62926221 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.31-160C>T |
single nucleotide variant |
not provided [RCV001725665] |
ChrX:63724871 [GRCh38] ChrX:62944751 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1322-120del |
deletion |
not provided [RCV001587179] |
ChrX:63644168 [GRCh38] ChrX:62864048 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys) |
single nucleotide variant |
Autism spectrum disorder [RCV001249523]|Developmental and epileptic encephalopathy, 8 [RCV001879754]|Inborn genetic diseases [RCV002447235] |
ChrX:63674094 [GRCh38] ChrX:62893974 [GRCh37] ChrX:Xq11.1 |
likely pathogenic|uncertain significance |
NM_001353921.2(ARHGEF9):c.815+5G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001218932] |
ChrX:63678335 [GRCh38] ChrX:62898215 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001202402] |
ChrX:63724570 [GRCh38] ChrX:62944450 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001034165] |
ChrX:63697259 [GRCh38] ChrX:62917139 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001063213] |
ChrX:63666015 [GRCh38] ChrX:62885895 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001039399] |
ChrX:63674038 [GRCh38] ChrX:62893918 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer) |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV001253710] |
ChrX:63678415 [GRCh38] ChrX:62898295 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001251162] |
ChrX:63706285 [GRCh38] ChrX:62926165 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.875del (p.Asn292fs) |
deletion |
Inborn genetic diseases [RCV001266235] |
ChrX:63674108 [GRCh38] ChrX:62893988 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.946-7_949del |
deletion |
not provided [RCV001311394] |
ChrX:63666014..63666024 [GRCh38] ChrX:62885894..62885904 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 1 [RCV001824943]|Developmental and epileptic encephalopathy, 8 [RCV002298921]|Inborn genetic diseases [RCV001267081]|not provided [RCV001587309] |
ChrX:63655700 [GRCh38] ChrX:62875580 [GRCh37] ChrX:Xq11.1 |
pathogenic|likely pathogenic|uncertain significance|not provided |
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1077+5C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001303748] |
ChrX:63665881 [GRCh38] ChrX:62885761 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001270419] |
ChrX:63638131 [GRCh38] ChrX:62858011 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.*2684A>G |
single nucleotide variant |
Global developmental delay [RCV001263346] |
ChrX:63635344 [GRCh38] ChrX:62855224 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1321G>A (p.Gly441Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001266196] |
ChrX:63655494 [GRCh38] ChrX:62875374 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1180A>C (p.Ser394Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001316540] |
ChrX:63655635 [GRCh38] ChrX:62875515 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.145A>G (p.Asn49Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001306081] |
ChrX:63724597 [GRCh38] ChrX:62944477 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.488A>T (p.Tyr163Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001339431] |
ChrX:63697219 [GRCh38] ChrX:62917099 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001352093] |
ChrX:63638039 [GRCh38] ChrX:62857919 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1078-3T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001363150] |
ChrX:63655740 [GRCh38] ChrX:62875620 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001350558] |
ChrX:63697163 [GRCh38] ChrX:62917043 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.536A>G (p.Asn179Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001281080] |
ChrX:63697171 [GRCh38] ChrX:62917051 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1268G>A (p.Trp423Ter) |
single nucleotide variant |
not provided [RCV001281640] |
ChrX:63655547 [GRCh38] ChrX:62875427 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.124A>G (p.Ile42Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001327205] |
ChrX:63724618 [GRCh38] ChrX:62944498 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.726C>T (p.Ile242=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001422362] |
ChrX:63678429 [GRCh38] ChrX:62898309 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.408T>C (p.Tyr136=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001392770] |
ChrX:63697299 [GRCh38] ChrX:62917179 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.499A>G (p.Met167Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001368368]|not provided [RCV002462964] |
ChrX:63697208 [GRCh38] ChrX:62917088 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.66A>G (p.Ala22=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001364811] |
ChrX:63724676 [GRCh38] ChrX:62944556 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001303517]|Inborn genetic diseases [RCV002418918] |
ChrX:63678344 [GRCh38] ChrX:62898224 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.313C>G (p.Gln105Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001324146] |
ChrX:63706347 [GRCh38] ChrX:62926227 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001306820] |
ChrX:63638191 [GRCh38] ChrX:62858071 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.703C>G (p.Gln235Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001305701] |
ChrX:63678452 [GRCh38] ChrX:62898332 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xq11.1(chrX:62893918-62898452)x1 |
copy number loss |
not provided [RCV001311124] |
ChrX:62893918..62898452 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.425A>G (p.Lys142Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001359988] |
ChrX:63697282 [GRCh38] ChrX:62917162 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001315350] |
ChrX:63724647 [GRCh38] ChrX:62944527 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.727G>A (p.Asp243Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001370768] |
ChrX:63678428 [GRCh38] ChrX:62898308 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.52G>A (p.Val18Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001370352] |
ChrX:63724690 [GRCh38] ChrX:62944570 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001395223] |
ChrX:63655570 [GRCh38] ChrX:62875450 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.946-9_946-8insATCCTAGA |
insertion |
not provided [RCV001311395] |
ChrX:63666025..63666026 [GRCh38] ChrX:62885905..62885906 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.694C>T (p.Arg232Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001365846]|not provided [RCV002473282] |
ChrX:63678461 [GRCh38] ChrX:62898341 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.402+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001333827] |
ChrX:63706257 [GRCh38] ChrX:62926137 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1116C>T (p.Arg372=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001487797] |
ChrX:63655699 [GRCh38] ChrX:62875579 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1194C>T (p.Ala398=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001417822] |
ChrX:63655621 [GRCh38] ChrX:62875501 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1233G>A (p.Leu411=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001475791] |
ChrX:63655582 [GRCh38] ChrX:62875462 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001427319]|not provided [RCV003438791] |
ChrX:63638121 [GRCh38] ChrX:62858001 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1077+7C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001445995] |
ChrX:63665879 [GRCh38] ChrX:62885759 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001389751] |
ChrX:63655665 [GRCh38] ChrX:62875545 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.886C>A (p.Arg296=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001436009] |
ChrX:63674097 [GRCh38] ChrX:62893977 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001411559]|Inborn genetic diseases [RCV002460154] |
ChrX:63706294 [GRCh38] ChrX:62926174 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001505750] |
ChrX:63638110 [GRCh38] ChrX:62857990 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.660G>A (p.Lys220=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001457656] |
ChrX:63678495 [GRCh38] ChrX:62898375 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001482332]|not provided [RCV001799765] |
ChrX:63706408 [GRCh38] ChrX:62926288 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1390+163C>T |
single nucleotide variant |
not provided [RCV001592239] |
ChrX:63643817 [GRCh38] ChrX:62863697 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002592492]|not provided [RCV001592429] |
ChrX:63638108 [GRCh38] ChrX:62857988 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.1322-190G>A |
single nucleotide variant |
not provided [RCV001608981] |
ChrX:63644238 [GRCh38] ChrX:62864118 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001517984] |
ChrX:63638127 [GRCh38] ChrX:62858007 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001471280] |
ChrX:63655558 [GRCh38] ChrX:62875438 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.*148CA[15] |
microsatellite |
not provided [RCV001687475] |
ChrX:63637847..63637850 [GRCh38] ChrX:62857727..62857730 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.31-10G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001504599] |
ChrX:63724721 [GRCh38] ChrX:62944601 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001522929]|not specified [RCV001821842] |
ChrX:63697260 [GRCh38] ChrX:62917140 [GRCh37] ChrX:Xq11.1 |
benign|likely benign |
NM_001353921.2(ARHGEF9):c.411G>A (p.Leu137=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001457581] |
ChrX:63697296 [GRCh38] ChrX:62917176 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1056C>T (p.His352=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001453566] |
ChrX:63665907 [GRCh38] ChrX:62885787 [GRCh37] ChrX:Xq11.1 |
likely benign |
NC_000023.10:g.(?_62875364)_(62944601_?)del |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV001380003] |
ChrX:62875364..62944601 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.1391-5T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001418186] |
ChrX:63638214 [GRCh38] ChrX:62858094 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001441405] |
ChrX:63638127 [GRCh38] ChrX:62858007 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.747A>G (p.Pro249=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001455015] |
ChrX:63678408 [GRCh38] ChrX:62898288 [GRCh37] ChrX:Xq11.1 |
likely benign |
NC_000023.11:g.63635938_64279758del |
deletion |
Osteopathia striata with cranial sclerosis [RCV001251253] |
ChrX:62855818..63499638 [GRCh37] ChrX:Xq11.1-11.2 |
pathogenic |
NM_001353921.2(ARHGEF9):c.720T>C (p.Ile240=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002539772]|not provided [RCV001725819] |
ChrX:63678435 [GRCh38] ChrX:62898315 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.758T>C (p.Ile253Thr) |
single nucleotide variant |
not provided [RCV001754802] |
ChrX:63678397 [GRCh38] ChrX:62898277 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1558C>T (p.Pro520Ser) |
single nucleotide variant |
not provided [RCV001761279] |
ChrX:63638042 [GRCh38] ChrX:62857922 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002540265]|Inborn genetic diseases [RCV002440852]|not provided [RCV001767009] |
ChrX:63706355 [GRCh38] ChrX:62926235 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1276G>C (p.Ala426Pro) |
single nucleotide variant |
not provided [RCV001752143] |
ChrX:63655539 [GRCh38] ChrX:62875419 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.222C>A (p.Asn74Lys) |
single nucleotide variant |
not provided [RCV001786760] |
ChrX:63706438 [GRCh38] ChrX:62926318 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1500G>T (p.Glu500Asp) |
single nucleotide variant |
not provided [RCV001768580] |
ChrX:63638100 [GRCh38] ChrX:62857980 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.95G>T (p.Arg32Leu) |
single nucleotide variant |
not provided [RCV001774447] |
ChrX:63724647 [GRCh38] ChrX:62944527 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.430A>G (p.Arg144Gly) |
single nucleotide variant |
not provided [RCV001771018] |
ChrX:63697277 [GRCh38] ChrX:62917157 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001733571] |
ChrX:63638103 [GRCh38] ChrX:62857983 [GRCh37] ChrX:Xq11.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_001353921.2(ARHGEF9):c.1409C>G (p.Ser470Ter) |
single nucleotide variant |
ARHGEF9-Related Disorder [RCV001787685] |
ChrX:63638191 [GRCh38] ChrX:62858071 [GRCh37] ChrX:Xq11.1 |
not provided |
NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002542696]|not provided [RCV002285502]|not specified [RCV001817628] |
ChrX:63678487 [GRCh38] ChrX:62898367 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.253G>A (p.Asp85Asn) |
single nucleotide variant |
not provided [RCV001815987] |
ChrX:63706407 [GRCh38] ChrX:62926287 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter) |
insertion |
Developmental and epileptic encephalopathy, 1 [RCV001825308] |
ChrX:63655707..63655708 [GRCh38] ChrX:62875587..62875588 [GRCh37] ChrX:Xq11.1 |
not provided |
NM_001353921.2(ARHGEF9):c.31-29588_31-29587del |
microsatellite |
Developmental and epileptic encephalopathy, 8 [RCV001929772] |
ChrX:63754298..63754299 [GRCh38] ChrX:62974178..62974179 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NC_000023.10:g.(?_62893898)_(63005025_?)dup |
duplication |
Developmental and epileptic encephalopathy, 8 [RCV001987964] |
ChrX:62893898..63005025 [GRCh37] ChrX:Xq11.1-11.2 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1049T>G (p.Phe350Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002022904] |
ChrX:63665914 [GRCh38] ChrX:62885794 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1322G>T (p.Gly441Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001927327] |
ChrX:63644048 [GRCh38] ChrX:62863928 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) |
copy number gain |
not specified [RCV002053135] |
ChrX:61877278..79123671 [GRCh37] ChrX:Xq11.1-21.1 |
pathogenic |
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) |
copy number gain |
not specified [RCV002053136] |
ChrX:61974855..79123671 [GRCh37] ChrX:Xq11.1-21.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.727G>T (p.Asp243Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001985684] |
ChrX:63678428 [GRCh38] ChrX:62898308 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002043814] |
ChrX:63638152 [GRCh38] ChrX:62858032 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xq11.1-11.2(chrX:62970571-63052696) |
copy number loss |
not specified [RCV002053137] |
ChrX:62970571..63052696 [GRCh37] ChrX:Xq11.1-11.2 |
uncertain significance |
GRCh37/hg19 Xq11.1-11.2(chrX:62670323-63608849)x3 |
copy number gain |
not provided [RCV001834214] |
ChrX:62670323..63608849 [GRCh37] ChrX:Xq11.1-11.2 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1417C>T (p.Pro473Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001886262] |
ChrX:63638183 [GRCh38] ChrX:62858063 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1208A>G (p.Asn403Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001888733] |
ChrX:63655607 [GRCh38] ChrX:62875487 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001882977]|not provided [RCV002275272] |
ChrX:63655727 [GRCh38] ChrX:62875607 [GRCh37] ChrX:Xq11.1 |
pathogenic|uncertain significance |
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001941610] |
ChrX:63674041 [GRCh38] ChrX:62893921 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.944A>C (p.Glu315Ala) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001973008] |
ChrX:63674039 [GRCh38] ChrX:62893919 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1533C>G (p.Phe511Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002029902] |
ChrX:63638067 [GRCh38] ChrX:62857947 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1A>G (p.Met1Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001955307] |
ChrX:63785145 [GRCh38] ChrX:63005025 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.815+5G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001980519] |
ChrX:63678335 [GRCh38] ChrX:62898215 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs) |
duplication |
Developmental and epileptic encephalopathy, 8 [RCV001904140] |
ChrX:63665979..63665980 [GRCh38] ChrX:62885859..62885860 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1036G>A (p.Val346Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001996128] |
ChrX:63665927 [GRCh38] ChrX:62885807 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.248C>T (p.Pro83Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002032294] |
ChrX:63706412 [GRCh38] ChrX:62926292 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1322-17A>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001975467] |
ChrX:63644065 [GRCh38] ChrX:62863945 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1397A>G (p.Asn466Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV001884592] |
ChrX:63638203 [GRCh38] ChrX:62858083 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1326T>A (p.Phe442Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002012116] |
ChrX:63644044 [GRCh38] ChrX:62863924 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.632C>T (p.Ala211Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002033920] |
ChrX:63678523 [GRCh38] ChrX:62898403 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.946-19C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002090478] |
ChrX:63666036 [GRCh38] ChrX:62885916 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002165442] |
ChrX:63678426 [GRCh38] ChrX:62898306 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002205198] |
ChrX:63638166 [GRCh38] ChrX:62858046 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1029G>A (p.Gln343=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002089489] |
ChrX:63665934 [GRCh38] ChrX:62885814 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.259C>A (p.Gln87Lys) |
single nucleotide variant |
not provided [RCV002226051] |
ChrX:63706401 [GRCh38] ChrX:62926281 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.924G>A (p.Gln308=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002075225] |
ChrX:63674059 [GRCh38] ChrX:62893939 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1078-19C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002105272] |
ChrX:63655756 [GRCh38] ChrX:62875636 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002169491]|Inborn genetic diseases [RCV002391157] |
ChrX:63638082 [GRCh38] ChrX:62857962 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.126C>T (p.Ile42=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002087936] |
ChrX:63724616 [GRCh38] ChrX:62944496 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.336C>T (p.Ala112=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002073521] |
ChrX:63706324 [GRCh38] ChrX:62926204 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1077+19T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002108359] |
ChrX:63665867 [GRCh38] ChrX:62885747 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.24G>C (p.Ser8=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002133775] |
ChrX:63785122 [GRCh38] ChrX:63005002 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.30+20G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002110176] |
ChrX:63785096 [GRCh38] ChrX:63004976 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.815+11G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002150557] |
ChrX:63678329 [GRCh38] ChrX:62898209 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.972G>A (p.Ser324=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002195990] |
ChrX:63665991 [GRCh38] ChrX:62885871 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.583-17T>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002093258] |
ChrX:63678589 [GRCh38] ChrX:62898469 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1077+13C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002122855] |
ChrX:63665873 [GRCh38] ChrX:62885753 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002103767]|Inborn genetic diseases [RCV002391237] |
ChrX:63638148 [GRCh38] ChrX:62858028 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1390+11C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002081351] |
ChrX:63643969 [GRCh38] ChrX:62863849 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.915T>C (p.Ala305=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002197967] |
ChrX:63674068 [GRCh38] ChrX:62893948 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.30+9A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002143483] |
ChrX:63785107 [GRCh38] ChrX:63004987 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.31-16C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002122671] |
ChrX:63724727 [GRCh38] ChrX:62944607 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.582+10_582+14del |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV002218611] |
ChrX:63697111..63697115 [GRCh38] ChrX:62916991..62916995 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002182636]|not provided [RCV003438924] |
ChrX:63697152 [GRCh38] ChrX:62917032 [GRCh37] ChrX:Xq11.1 |
benign|likely benign |
NM_001353921.2(ARHGEF9):c.1390+18A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002119984] |
ChrX:63643962 [GRCh38] ChrX:62863842 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1017C>T (p.Tyr339=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002120013] |
ChrX:63665946 [GRCh38] ChrX:62885826 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.402+15T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002179988] |
ChrX:63706243 [GRCh38] ChrX:62926123 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.576A>G (p.Leu192=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002118898] |
ChrX:63697131 [GRCh38] ChrX:62917011 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1322-10T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002201146] |
ChrX:63644058 [GRCh38] ChrX:62863938 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.403-19G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002136737] |
ChrX:63697323 [GRCh38] ChrX:62917203 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1391-12C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002098814] |
ChrX:63638221 [GRCh38] ChrX:62858101 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.732T>A (p.Gly244=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002217564] |
ChrX:63678423 [GRCh38] ChrX:62898303 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.249C>T (p.Pro83=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002142448] |
ChrX:63706411 [GRCh38] ChrX:62926291 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.695G>A (p.Arg232His) |
single nucleotide variant |
not provided [RCV003109969] |
ChrX:63678460 [GRCh38] ChrX:62898340 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.403-17T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003112716] |
ChrX:63697321 [GRCh38] ChrX:62917201 [GRCh37] ChrX:Xq11.1 |
likely benign |
NC_000023.10:g.(?_62857908)_(64196257_?)dup |
duplication |
Developmental and epileptic encephalopathy, 8 [RCV003119530] |
ChrX:62857908..64196257 [GRCh37] ChrX:Xq11.1-11.2 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.295T>A (p.Cys99Ser) |
single nucleotide variant |
not provided [RCV003149310] |
ChrX:63706365 [GRCh38] ChrX:62926245 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1034G>A (p.Arg345Gln) |
single nucleotide variant |
not provided [RCV002255742] |
ChrX:63665929 [GRCh38] ChrX:62885809 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.475A>G (p.Ile159Val) |
single nucleotide variant |
not specified [RCV002266476] |
ChrX:63697232 [GRCh38] ChrX:62917112 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.946-8_949delinsATCCTAGAC |
indel |
not provided [RCV002276226] |
ChrX:63666014..63666025 [GRCh38] ChrX:62885894..62885905 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003101910]|Inborn genetic diseases [RCV002434921] |
ChrX:63706389 [GRCh38] ChrX:62926269 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002286493] |
ChrX:63697288 [GRCh38] ChrX:62917168 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_001353921.2(ARHGEF9):c.945+1G>A |
single nucleotide variant |
Neurodevelopmental delay [RCV002274313] |
ChrX:63674037 [GRCh38] ChrX:62893917 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.30+1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003152916] |
ChrX:63785115 [GRCh38] ChrX:63004995 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NC_000023.11:g.(57537466_63428182)_(65235775_65512709)del |
deletion |
Osteopathia striata with cranial sclerosis [RCV000011452] |
ChrX:63428182..65235775 [GRCh38] ChrX:Xp11.21-q12 |
pathogenic |
NM_001353921.2(ARHGEF9):c.246G>T (p.Gly82=) |
single nucleotide variant |
not provided [RCV002474460] |
ChrX:63706414 [GRCh38] ChrX:62926294 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3 |
copy number gain |
not provided [RCV002472635] |
ChrX:53731940..63932866 [GRCh37] ChrX:Xp11.22-q11.2 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.415C>T (p.Gln139Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002357605] |
ChrX:63697292 [GRCh38] ChrX:62917172 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1016A>G (p.Tyr339Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002299085] |
ChrX:63665947 [GRCh38] ChrX:62885827 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.569G>A (p.Cys190Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002299905] |
ChrX:63697138 [GRCh38] ChrX:62917018 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002301605] |
ChrX:63655515 [GRCh38] ChrX:62875395 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1390+2T>A |
single nucleotide variant |
Inborn genetic diseases [RCV002383639] |
ChrX:63643978 [GRCh38] ChrX:62863858 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1084A>T (p.Ile362Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002412643] |
ChrX:63655731 [GRCh38] ChrX:62875611 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002512195]|Inborn genetic diseases [RCV002449713] |
ChrX:63674093 [GRCh38] ChrX:62893973 [GRCh37] ChrX:Xq11.1 |
pathogenic|likely pathogenic |
NM_001353921.2(ARHGEF9):c.816-10G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003015390] |
ChrX:63674177 [GRCh38] ChrX:62894057 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003015162] |
ChrX:63638103 [GRCh38] ChrX:62857983 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003014722]|Developmental disorder [RCV003126265] |
ChrX:63655546 [GRCh38] ChrX:62875426 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.25G>C (p.Gly9Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002861432] |
ChrX:63785121 [GRCh38] ChrX:63005001 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002866030] |
ChrX:63665933 [GRCh38] ChrX:62885813 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003077040] |
ChrX:63724562 [GRCh38] ChrX:62944442 [GRCh37] ChrX:Xq11.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_001353921.2(ARHGEF9):c.582+10T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003077043] |
ChrX:63697115 [GRCh38] ChrX:62916995 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1077+10C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002838147] |
ChrX:63665876 [GRCh38] ChrX:62885756 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.766T>C (p.Tyr256His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003034592] |
ChrX:63678389 [GRCh38] ChrX:62898269 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1078-13C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002862850] |
ChrX:63655750 [GRCh38] ChrX:62875630 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.443G>A (p.Ser148Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002839154] |
ChrX:63697264 [GRCh38] ChrX:62917144 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1206C>T (p.His402=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002949616] |
ChrX:63655609 [GRCh38] ChrX:62875489 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.79G>A (p.Val27Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002976447] |
ChrX:63724663 [GRCh38] ChrX:62944543 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1391-14C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003021144] |
ChrX:63638223 [GRCh38] ChrX:62858103 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.296G>C (p.Cys99Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002979555] |
ChrX:63706364 [GRCh38] ChrX:62926244 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.402+8T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002886144] |
ChrX:63706250 [GRCh38] ChrX:62926130 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002886670] |
ChrX:63638052 [GRCh38] ChrX:62857932 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1095C>T (p.Asp365=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002927355] |
ChrX:63655720 [GRCh38] ChrX:62875600 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.240G>T (p.Glu80Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002796648] |
ChrX:63706420 [GRCh38] ChrX:62926300 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.117C>T (p.Gly39=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002780320] |
ChrX:63724625 [GRCh38] ChrX:62944505 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.256G>A (p.Val86Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003008205] |
ChrX:63706404 [GRCh38] ChrX:62926284 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.309A>G (p.Pro103=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002894023] |
ChrX:63706351 [GRCh38] ChrX:62926231 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.13A>G (p.Arg5Gly) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003025239] |
ChrX:63785133 [GRCh38] ChrX:63005013 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002623447] |
ChrX:63638158 [GRCh38] ChrX:62858038 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003057585] |
ChrX:63665941 [GRCh38] ChrX:62885821 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.761G>A (p.Cys254Tyr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002825670] |
ChrX:63678394 [GRCh38] ChrX:62898274 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs) |
duplication |
Developmental and epileptic encephalopathy, 8 [RCV003007717] |
ChrX:63638176..63638177 [GRCh38] ChrX:62858056..62858057 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.31-6C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003058040] |
ChrX:63724717 [GRCh38] ChrX:62944597 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1158C>A (p.Gly386=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003043895] |
ChrX:63655657 [GRCh38] ChrX:62875537 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002962321] |
ChrX:63674059 [GRCh38] ChrX:62893939 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.422G>A (p.Arg141Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002599369] |
ChrX:63697285 [GRCh38] ChrX:62917165 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1321+18A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002602692] |
ChrX:63655476 [GRCh38] ChrX:62875356 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1078-11_1078-8del |
microsatellite |
Developmental and epileptic encephalopathy, 8 [RCV002810975] |
ChrX:63655745..63655748 [GRCh38] ChrX:62875625..62875628 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.308C>A (p.Pro103Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003031516] |
ChrX:63706352 [GRCh38] ChrX:62926232 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.414G>A (p.Lys138=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002922448] |
ChrX:63697293 [GRCh38] ChrX:62917173 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002805944] |
ChrX:63638157 [GRCh38] ChrX:62858037 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.117C>G (p.Gly39=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002717400] |
ChrX:63724625 [GRCh38] ChrX:62944505 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1009C>G (p.Gln337Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002646932] |
ChrX:63665954 [GRCh38] ChrX:62885834 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.121G>A (p.Val41Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003064680] |
ChrX:63724621 [GRCh38] ChrX:62944501 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1390+13C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003046024] |
ChrX:63643967 [GRCh38] ChrX:62863847 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1453G>A (p.Gly485Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002962704] |
ChrX:63638147 [GRCh38] ChrX:62858027 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1077+18T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002857054] |
ChrX:63665868 [GRCh38] ChrX:62885748 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003061891] |
ChrX:63643992 [GRCh38] ChrX:62863872 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1020C>T (p.Gly340=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003009507] |
ChrX:63665943 [GRCh38] ChrX:62885823 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.582+18T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002584045] |
ChrX:63697107 [GRCh38] ChrX:62916987 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002607243] |
ChrX:63638130 [GRCh38] ChrX:62858010 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV002603071] |
ChrX:63674103 [GRCh38] ChrX:62893983 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003092337] |
ChrX:63706276 [GRCh38] ChrX:62926156 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs) |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV003228180] |
ChrX:63674048..63674055 [GRCh38] ChrX:62893928..62893935 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.403-4A>C |
single nucleotide variant |
Inborn genetic diseases [RCV003175082] |
ChrX:63697308 [GRCh38] ChrX:62917188 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs) |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV003227551] |
ChrX:63706326 [GRCh38] ChrX:62926206 [GRCh37] ChrX:Xq11.1 |
likely pathogenic |
NM_001353921.2(ARHGEF9):c.211-13C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003622390] |
ChrX:63706462 [GRCh38] ChrX:62926342 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1034G>T (p.Arg345Leu) |
single nucleotide variant |
not provided [RCV003329809] |
ChrX:63665929 [GRCh38] ChrX:62885809 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs) |
microsatellite |
Developmental and epileptic encephalopathy, 8 [RCV003335787] |
ChrX:63678341..63678342 [GRCh38] ChrX:62898221..62898222 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.402+1G>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003335789] |
ChrX:63706257 [GRCh38] ChrX:62926137 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.1142T>C (p.Val381Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003379592] |
ChrX:63655673 [GRCh38] ChrX:62875553 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003333375] |
ChrX:63665902 [GRCh38] ChrX:62885782 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.945+5G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003622904] |
ChrX:63674033 [GRCh38] ChrX:62893913 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.31-29577C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623288] |
ChrX:63754288 [GRCh38] ChrX:62974168 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623290] |
ChrX:63644008 [GRCh38] ChrX:62863888 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003622998] |
ChrX:63655658 [GRCh38] ChrX:62875538 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.946-13A>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623196] |
ChrX:63666030 [GRCh38] ChrX:62885910 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.775C>G (p.Gln259Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623251] |
ChrX:63678380 [GRCh38] ChrX:62898260 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.31-5C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623799] |
ChrX:63724716 [GRCh38] ChrX:62944596 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.31-29579C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623467] |
ChrX:63754290 [GRCh38] ChrX:62974170 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.30+10T>C |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623321] |
ChrX:63785106 [GRCh38] ChrX:63004986 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623338] |
ChrX:63706444 [GRCh38] ChrX:62926324 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623444] |
ChrX:63706375 [GRCh38] ChrX:62926255 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003875105] |
ChrX:63706356 [GRCh38] ChrX:62926236 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623523] |
ChrX:63706417 [GRCh38] ChrX:62926297 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.30+16C>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623644] |
ChrX:63785100 [GRCh38] ChrX:63004980 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623612] |
ChrX:63724568 [GRCh38] ChrX:62944448 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.688G>A (p.Ala230Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003622552] |
ChrX:63678467 [GRCh38] ChrX:62898347 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003622809] |
ChrX:63706441 [GRCh38] ChrX:62926321 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003622740] |
ChrX:63678380 [GRCh38] ChrX:62898260 [GRCh37] ChrX:Xq11.1 |
pathogenic |
NM_001353921.2(ARHGEF9):c.583-13del |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV003622652] |
ChrX:63678585 [GRCh38] ChrX:62898465 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623160] |
ChrX:63644016 [GRCh38] ChrX:62863896 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.403-12C>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003623203] |
ChrX:63697316 [GRCh38] ChrX:62917196 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp) |
single nucleotide variant |
ARHGEF9-related condition [RCV003399988] |
ChrX:63697204 [GRCh38] ChrX:62917084 [GRCh37] ChrX:Xq11.1 |
likely benign|uncertain significance |
NM_001353921.2(ARHGEF9):c.30+29959G>A |
single nucleotide variant |
ARHGEF9-related condition [RCV003412495] |
ChrX:63755157 [GRCh38] ChrX:62975037 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1420T>G (p.Ser474Ala) |
single nucleotide variant |
not provided [RCV003438411] |
ChrX:63638180 [GRCh38] ChrX:62858060 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.432G>C (p.Arg144Ser) |
single nucleotide variant |
not provided [RCV003438412] |
ChrX:63697275 [GRCh38] ChrX:62917155 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1209C>G (p.Asn403Lys) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512456] |
ChrX:63655606 [GRCh38] ChrX:62875486 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512807] |
ChrX:63706390 [GRCh38] ChrX:62926270 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1322-10del |
deletion |
Developmental and epileptic encephalopathy, 8 [RCV003512923] |
ChrX:63644058 [GRCh38] ChrX:62863938 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.1078-18C>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003513285] |
ChrX:63655755 [GRCh38] ChrX:62875635 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.735C>T (p.Phe245=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003511870] |
ChrX:63678420 [GRCh38] ChrX:62898300 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.946-18A>G |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003827241] |
ChrX:63666035 [GRCh38] ChrX:62885915 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.1321+5G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512260] |
ChrX:63655489 [GRCh38] ChrX:62875369 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512365] |
ChrX:63706412 [GRCh38] ChrX:62926292 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003513243] |
ChrX:63655666 [GRCh38] ChrX:62875546 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1321+16G>T |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003513266] |
ChrX:63655478 [GRCh38] ChrX:62875358 [GRCh37] ChrX:Xq11.1 |
benign |
NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003877538] |
ChrX:63724651 [GRCh38] ChrX:62944531 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003513318] |
ChrX:63724570 [GRCh38] ChrX:62944450 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003882106] |
ChrX:63655564 [GRCh38] ChrX:62875444 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.476T>C (p.Ile159Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512266] |
ChrX:63697231 [GRCh38] ChrX:62917111 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512364] |
ChrX:63638165 [GRCh38] ChrX:62858045 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.1203T>G (p.Leu401=) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512530] |
ChrX:63655612 [GRCh38] ChrX:62875492 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.270C>A (p.His90Gln) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003511747] |
ChrX:63706390 [GRCh38] ChrX:62926270 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.946-17T>A |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512655] |
ChrX:63666034 [GRCh38] ChrX:62885914 [GRCh37] ChrX:Xq11.1 |
likely benign |
NM_001353921.2(ARHGEF9):c.438G>A (p.Met146Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003512700] |
ChrX:63697269 [GRCh38] ChrX:62917149 [GRCh37] ChrX:Xq11.1 |
uncertain significance |
NM_001353921.2(ARHGEF9):c.653T>C (p.Leu218Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 8 [RCV003486010] |
ChrX:63678502 [GRCh38] ChrX:62898382 [GRCh37] ChrX:Xq11.1 |
uncertain significance |