NM_007325.5(GRIA3):c.1991C>T (p.Pro664Leu) |
single nucleotide variant |
not provided [RCV000523115] |
ChrX:123428054 [GRCh38] ChrX:122561905 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000011069] |
ChrX:123482856 [GRCh38] ChrX:122616707 [GRCh37] ChrX:Xq25 |
pathogenic |
NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000011070] |
ChrX:123427954 [GRCh38] ChrX:122561805 [GRCh37] ChrX:Xq25 |
pathogenic |
NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000011071] |
ChrX:123464905 [GRCh38] ChrX:122598756 [GRCh37] ChrX:Xq25 |
pathogenic |
GRIA3, 0.4-MB DEL |
deletion |
Mental retardation, X-linked, syndromic, wu type [RCV000011072] |
ChrX:Xq25-q26 |
pathogenic |
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_007325.5(GRIA3):c.2470G>A (p.Val824Met) |
single nucleotide variant |
not provided [RCV000522137] |
ChrX:123482829 [GRCh38] ChrX:122616680 [GRCh37] ChrX:Xq25 |
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 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)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:10679-156013167)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 Xq23-28(chrX:115417992-156022206)x1 |
copy number loss |
See cases [RCV000051160] |
ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
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 Xq23-28(chrX:116264813-155980575)x1 |
copy number loss |
See cases [RCV000051728] |
ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
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 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 Xq13.2-27.1(chrX:73008114-140201321)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] |
ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1 |
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: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 Xq21.1-25(chrX:81261589-126519353)x3 |
copy number gain |
See cases [RCV000052438] |
ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25 |
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-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 |
GRCh38/hg38 Xq25(chrX:123469532-123590128)x2 |
copy number gain |
See cases [RCV000054244] |
ChrX:123469532..123590128 [GRCh38] ChrX:122603383..122723979 [GRCh37] ChrX:122431064..122551660 [NCBI36] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1701C>A (p.Ser567Arg) |
single nucleotide variant |
not provided [RCV000079321] |
ChrX:123417602 [GRCh38] ChrX:122551453 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000115024] |
ChrX:123427951 [GRCh38] ChrX:122561802 [GRCh37] ChrX:Xq25 |
pathogenic |
NM_007325.5(GRIA3):c.15G>A (p.Lys5=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000716867]|not provided [RCV000882979]|not specified [RCV000117155] |
ChrX:123184550 [GRCh38] ChrX:122318402 [GRCh37] ChrX:Xq25 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000715357]|not specified [RCV000117156] |
ChrX:123403426 [GRCh38] ChrX:122537277 [GRCh37] ChrX:Xq25 |
benign|likely benign |
NM_007325.5(GRIA3):c.1501-8T>A |
single nucleotide variant |
not provided [RCV000514141]|not specified [RCV000117157] |
ChrX:123417394 [GRCh38] ChrX:122551245 [GRCh37] ChrX:Xq25 |
benign|likely benign |
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_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000717973]|Mental retardation, X-linked, syndromic, wu type [RCV000990937]|not provided [RCV000913034]|not specified [RCV000180188] |
ChrX:123403094 [GRCh38] ChrX:122536945 [GRCh37] ChrX:Xq25 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter) |
single nucleotide variant |
not provided [RCV000178131] |
ChrX:123326163 [GRCh38] ChrX:122460014 [GRCh37] ChrX:Xq25 |
likely pathogenic |
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 |
NM_000828.4(GRIA3):c.-2G= |
duplication |
History of neurodevelopmental disorder [RCV000715223]|not provided [RCV000711850]|not specified [RCV000153339] |
ChrX:123184533..123184534 [GRCh38] ChrX:122318386..122318387 [GRCh37] ChrX:Xq25 |
benign |
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: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: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: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 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
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 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq25(chrX:123473778-123593934)x2 |
copy number gain |
See cases [RCV000134543] |
ChrX:123473778..123593934 [GRCh38] ChrX:122607629..122727785 [GRCh37] ChrX:122435310..122555466 [NCBI36] ChrX:Xq25 |
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 Xq25(chrX:123196219-123223427)x3 |
copy number gain |
See cases [RCV000133985] |
ChrX:123196219..123223427 [GRCh38] ChrX:122330071..122357278 [GRCh37] ChrX:122157752..122184959 [NCBI36] ChrX:Xq25 |
uncertain significance |
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 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 |
copy number loss |
See cases [RCV000134947] |
ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
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 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
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 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
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 Xq23-28(chrX:111745722-154555423)x3 |
copy number gain |
See cases [RCV000136030] |
ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
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 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
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 Xq11.1-28(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 Xq22.1-28(chrX:102197284-156003242)x1 |
copy number loss |
See cases [RCV000137415] |
ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 |
copy number gain |
See cases [RCV000138145] |
ChrX:117260292..140201321 [GRCh38] ChrX:116394255..139283477 [GRCh37] ChrX:116278283..139111143 [NCBI36] ChrX:Xq23-27.1 |
pathogenic |
GRCh38/hg38 Xq25(chrX:123468978-123583021)x2 |
copy number gain |
See cases [RCV000138098] |
ChrX:123468978..123583021 [GRCh38] ChrX:122602829..122716872 [GRCh37] ChrX:122430510..122544553 [NCBI36] ChrX:Xq25 |
uncertain significance |
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 |
copy number loss |
See cases [RCV000137887] |
ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
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 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 |
copy number loss |
See cases [RCV000138541] |
ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
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 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
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 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 |
copy number loss |
See cases [RCV000141743] |
ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 |
copy number loss |
See cases [RCV000142137] |
ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 |
copy number loss |
See cases [RCV000142190] |
ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 |
copy number loss |
See cases [RCV000142577] |
ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28 |
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 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
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 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
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 |
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 |
NM_007325.5(GRIA3):c.268+16757dup |
duplication |
Mental retardation, X-linked, syndromic, wu type [RCV000608382]|not specified [RCV000203157] |
ChrX:123202745..123202746 [GRCh38] ChrX:122336597..122336598 [GRCh37] ChrX:Xq25 |
benign |
NM_007325.5(GRIA3):c.162C>T (p.Ala54=) |
single nucleotide variant |
not specified [RCV000195146] |
ChrX:123185884 [GRCh38] ChrX:122319736 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] 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: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 |
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_007325.5(GRIA3):c.580G>A (p.Gly194Arg) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000209883] |
ChrX:123326097 [GRCh38] ChrX:122459948 [GRCh37] ChrX:Xq25 |
likely pathogenic|likely benign |
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000209928] |
ChrX:123253500 [GRCh38] ChrX:122387351 [GRCh37] ChrX:Xq25 |
likely pathogenic|likely benign |
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:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [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:71267-155234036)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 |
NM_007325.5(GRIA3):c.2452G>A (p.Ala818Thr) |
single nucleotide variant |
not provided [RCV000520902] |
ChrX:123482811 [GRCh38] ChrX:122616662 [GRCh37] ChrX:Xq25 |
uncertain significance |
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:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 |
copy number loss |
See cases [RCV000240337] |
ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
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 |
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000721085]|not provided [RCV000514514]|not specified [RCV000359504] |
ChrX:123253431 [GRCh38] ChrX:122387282 [GRCh37] ChrX:Xq25 |
likely benign|uncertain significance |
NM_007325.5(GRIA3):c.1130G>A (p.Arg377His) |
single nucleotide variant |
not provided [RCV000489881] |
ChrX:123403043 [GRCh38] ChrX:122536894 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000764857]|not provided [RCV000490127] |
ChrX:123326044 [GRCh38] ChrX:122459895 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1502G>C (p.Arg501Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000622505] |
ChrX:123417403 [GRCh38] ChrX:122551254 [GRCh37] ChrX:Xq25 |
likely pathogenic |
NM_007325.5(GRIA3):c.1608_1616del (p.Pro537_Lys539del) |
deletion |
not provided [RCV000599581] |
ChrX:123417505..123417513 [GRCh38] ChrX:122551356..122551364 [GRCh37] ChrX:Xq25 |
likely 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:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
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 Xq21.33-26.1(chrX:95498487-129063677)x3 |
copy number gain |
See cases [RCV000446318] |
ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1 |
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 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
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 |
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 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
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:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-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 |
NM_007325.5(GRIA3):c.1999A>G (p.Ser667Gly) |
single nucleotide variant |
not provided [RCV000427441] |
ChrX:123428062 [GRCh38] ChrX:122561913 [GRCh37] ChrX:Xq25 |
uncertain significance |
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:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) |
single nucleotide variant |
Disrupted sleep-wake cycle with developmental delay and learning difficulty [RCV000579220]|History of neurodevelopmental disorder [RCV000719884]|Mental retardation, X-linked, syndromic, wu type [RCV000990938]|not provided [RCV000426311] |
ChrX:123428020 [GRCh38] ChrX:122561871 [GRCh37] ChrX:Xq25 |
likely pathogenic|uncertain significance |
NM_007325.5(GRIA3):c.2324+645G>A |
single nucleotide variant |
GRIA3-Related Disorder [RCV000509420]|not provided [RCV000427181] |
ChrX:123465757 [GRCh38] ChrX:122599608 [GRCh37] ChrX:Xq25 |
likely pathogenic|not provided |
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000679995] |
ChrX:123464904 [GRCh38] ChrX:122598755 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 |
copy number loss |
See cases [RCV000445891] |
ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
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 Xq13.2-27.1(chrX:72224362-139262228)x4 |
copy number gain |
See cases [RCV000448394] |
ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1 |
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 Xq25(chrX:122619383-122896336)x3 |
copy number gain |
See cases [RCV000448282] |
ChrX:122619383..122896336 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_007325.5(GRIA3):c.2324+653G>A |
single nucleotide variant |
not provided [RCV000486204] |
ChrX:123465765 [GRCh38] ChrX:122599616 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.585C>T (p.Asn195=) |
single nucleotide variant |
not specified [RCV000503756] |
ChrX:123326102 [GRCh38] ChrX:122459953 [GRCh37] ChrX:Xq25 |
likely benign |
NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000496189] |
ChrX:123428027 [GRCh38] ChrX:122561878 [GRCh37] ChrX:Xq25 |
pathogenic |
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_007325.5(GRIA3):c.159T>C (p.Phe53=) |
single nucleotide variant |
not provided [RCV000881606]|not specified [RCV000502305] |
ChrX:123185881 [GRCh38] ChrX:122319733 [GRCh37] ChrX:Xq25 |
benign|likely benign |
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 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 |
copy number loss |
See cases [RCV000511572] |
ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 |
copy number loss |
See cases [RCV000511936] |
ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq25(chrX:121877550-122445667)x3 |
copy number gain |
See cases [RCV000511711] |
ChrX:121877550..122445667 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
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 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
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 |
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_007325.5(GRIA3):c.2321T>C (p.Leu774Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000624569] |
ChrX:123465109 [GRCh38] ChrX:122598960 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr) |
single nucleotide variant |
not provided [RCV000585447] |
ChrX:123403079 [GRCh38] ChrX:122536930 [GRCh37] ChrX:Xq25 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_007325.5(GRIA3):c.1980G>C (p.Arg660Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000623641] |
ChrX:123428043 [GRCh38] ChrX:122561894 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1940C>T (p.Ser647Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV000623912] |
ChrX:123428003 [GRCh38] ChrX:122561854 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.2502T>C (p.Gly834=) |
single nucleotide variant |
not specified [RCV000614481] |
ChrX:123482861 [GRCh38] ChrX:122616712 [GRCh37] ChrX:Xq25 |
likely benign |
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 |
copy number gain |
See cases [RCV000512365] |
ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28 |
uncertain significance |
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
NM_007325.5(GRIA3):c.159T>G (p.Phe53Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000622531] |
ChrX:123185881 [GRCh38] ChrX:122319733 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000679971] |
ChrX:123482806 [GRCh38] ChrX:122616657 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000679996] |
ChrX:123480146 [GRCh38] ChrX:122613997 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 |
copy number loss |
not provided [RCV000684373] |
ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
GRCh37/hg19 Xq25(chrX:122061189-122340944)x2 |
copy number gain |
not provided [RCV000684381] |
ChrX:122061189..122340944 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 |
copy number gain |
not provided [RCV000684377] |
ChrX:117998704..140159954 [GRCh37] ChrX:Xq24-27.1 |
pathogenic |
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 |
copy number loss |
not provided [RCV000684380] |
ChrX:120777368..139345946 [GRCh37] ChrX:Xq24-27.1 |
pathogenic |
GRCh37/hg19 Xq25(chrX:122252098-123083702)x2 |
copy number gain |
not provided [RCV000684382] |
ChrX:122252098..123083702 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1440T>C (p.Tyr480=) |
single nucleotide variant |
not provided [RCV000711849] |
ChrX:123404854 [GRCh38] ChrX:122538705 [GRCh37] ChrX:Xq25 |
benign|likely benign |
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 |
copy number loss |
not provided [RCV000846958] |
ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718925]|not provided [RCV000915624] |
ChrX:123403038 [GRCh38] ChrX:122536889 [GRCh37] ChrX:Xq25 |
benign |
NM_007325.5(GRIA3):c.2219T>C (p.Met740Thr) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000718995] |
ChrX:123465007 [GRCh38] ChrX:122598858 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1850T>C (p.Met617Thr) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000719314] |
ChrX:123417751 [GRCh38] ChrX:122551602 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq25(chrX:122367901-122373316)x0 |
copy number loss |
not provided [RCV000753751] |
ChrX:122367901..122373316 [GRCh37] ChrX:Xq25 |
benign |
GRCh37/hg19 Xq25(chrX:122369317-122373316)x0 |
copy number loss |
not provided [RCV000753752] |
ChrX:122369317..122373316 [GRCh37] ChrX:Xq25 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
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:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
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 |
Single allele |
duplication |
Autistic disorder of childhood onset [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 |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
NM_007325.5(GRIA3):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV000762665] |
ChrX:123184537 [GRCh38] ChrX:122318389 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.268+16762dup |
duplication |
Mental retardation, X-linked, syndromic, wu type [RCV000990936] |
ChrX:123202748..123202749 [GRCh38] ChrX:122336600..122336601 [GRCh37] ChrX:Xq25 |
benign |
GRCh37/hg19 Xq25(chrX:122503175-123124783)x2 |
copy number gain |
See cases [RCV000790611] |
ChrX:122503175..123124783 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 |
copy number gain |
not provided [RCV001007336] |
ChrX:117119895..129850963 [GRCh37] ChrX:Xq24-26.1 |
pathogenic |
NM_007325.5(GRIA3):c.2323= (p.Arg775=) |
variation |
not provided [RCV000948201] |
ChrX:123465111 [GRCh38] ChrX:122598962 [GRCh37] ChrX:Xq25 |
benign |
NM_007325.5(GRIA3):c.390C>T (p.Pro130=) |
single nucleotide variant |
not provided [RCV000879524] |
ChrX:123253424 [GRCh38] ChrX:122387275 [GRCh37] ChrX:Xq25 |
benign |
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_007325.5(GRIA3):c.106A>G (p.Ile36Val) |
single nucleotide variant |
not provided [RCV000996009] |
ChrX:123184641 [GRCh38] ChrX:122318493 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1609C>G (p.Pro537Ala) |
single nucleotide variant |
not provided [RCV000996010] |
ChrX:123417510 [GRCh38] ChrX:122551361 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.2324+665_2324+668del |
deletion |
not provided [RCV000819240] |
ChrX:123465777..123465780 [GRCh38] ChrX:122599628..122599631 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 |
copy number loss |
not provided [RCV000847838] |
ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_007325.5(GRIA3):c.528G>A (p.Ala176=) |
single nucleotide variant |
not provided [RCV000900332] |
ChrX:123326045 [GRCh38] ChrX:122459896 [GRCh37] ChrX:Xq25 |
likely benign |
NM_007325.5(GRIA3):c.636G>A (p.Arg212=) |
single nucleotide variant |
not provided [RCV000925460] |
ChrX:123326153 [GRCh38] ChrX:122460004 [GRCh37] ChrX:Xq25 |
likely benign |
NM_007325.5(GRIA3):c.933C>T (p.His311=) |
single nucleotide variant |
not provided [RCV000920974] |
ChrX:123398656 [GRCh38] ChrX:122532507 [GRCh37] ChrX:Xq25 |
likely benign |
NM_007325.5(GRIA3):c.1158T>C (p.Tyr386=) |
single nucleotide variant |
not provided [RCV000918852] |
ChrX:123403071 [GRCh38] ChrX:122536922 [GRCh37] ChrX:Xq25 |
likely benign |
NM_007325.5(GRIA3):c.1772G>A (p.Arg591His) |
single nucleotide variant |
not provided [RCV000896561] |
ChrX:123417673 [GRCh38] ChrX:122551524 [GRCh37] ChrX:Xq25 |
benign |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_007325.5(GRIA3):c.813G>C (p.Gln271His) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000790924] |
ChrX:123395030 [GRCh38] ChrX:122528881 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq25(chrX:122593596-122896336)x2 |
copy number gain |
not provided [RCV000848037] |
ChrX:122593596..122896336 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq25(chrX:122460513-122510025)x3 |
copy number gain |
not provided [RCV000849675] |
ChrX:122460513..122510025 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) |
single nucleotide variant |
Dystonia [RCV001004013]|Epileptic encephalopathy [RCV001004014]|Intellectual disability [RCV000850209] |
ChrX:123480065 [GRCh38] ChrX:122613916 [GRCh37] ChrX:Xq25 |
pathogenic|likely pathogenic |
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
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_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV000985029] |
ChrX:123464977 [GRCh38] ChrX:122598828 [GRCh37] ChrX:Xq25 |
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 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
NM_007325.5(GRIA3):c.2440-5C>T |
single nucleotide variant |
not provided [RCV000910964] |
ChrX:123482794 [GRCh38] ChrX:122616645 [GRCh37] ChrX:Xq25 |
likely benign |
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) |
copy number loss |
Intellectual disability [RCV001249592] |
ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
NM_007325.5(GRIA3):c.1780C>G (p.Gln594Glu) |
single nucleotide variant |
not provided [RCV001091710] |
ChrX:123417681 [GRCh38] ChrX:122551532 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.40G>A (p.Ala14Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV001266612] |
ChrX:123184575 [GRCh38] ChrX:122318427 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.2575C>T (p.Leu859Phe) |
single nucleotide variant |
Intellectual disability [RCV001260623] |
ChrX:123482934 [GRCh38] ChrX:122616785 [GRCh37] ChrX:Xq25 |
likely benign |
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter) |
single nucleotide variant |
Intellectual disability [RCV001260624] |
ChrX:123404762 [GRCh38] ChrX:122538613 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1961C>T (p.Ala654Val) |
single nucleotide variant |
Global developmental delay [RCV001255420] |
ChrX:123428024 [GRCh38] ChrX:122561875 [GRCh37] ChrX:Xq25 |
likely pathogenic |
NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV001262532] |
ChrX:123395029 [GRCh38] ChrX:122528880 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) |
single nucleotide variant |
Neurodevelopmental abnormality [RCV001264709] |
ChrX:123464886 [GRCh38] ChrX:122598737 [GRCh37] ChrX:Xq25 |
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 Xq25(chrX:122338834-123471785)x2 |
copy number gain |
not provided [RCV001259497] |
ChrX:122338834..123471785 [GRCh37] ChrX:Xq25 |
pathogenic |
NM_007325.5(GRIA3):c.1952A>G (p.Asn651Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001266022] |
ChrX:123428015 [GRCh38] ChrX:122561866 [GRCh37] ChrX:Xq25 |
uncertain significance |
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 |
copy number loss |
not provided [RCV001259005] |
ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 |
copy number gain |
not provided [RCV001259495] |
ChrX:117120780..129850994 [GRCh37] ChrX:Xq24-26.1 |
pathogenic |
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg) |
single nucleotide variant |
Intellectual disability [RCV001260622] |
ChrX:123427951 [GRCh38] ChrX:122561802 [GRCh37] ChrX:Xq25 |
pathogenic |
NM_007325.5(GRIA3):c.1474G>A (p.Gly492Ser) |
single nucleotide variant |
Intellectual disability [RCV001260625] |
ChrX:123404888 [GRCh38] ChrX:122538739 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.2552G>A (p.Arg851Gln) |
single nucleotide variant |
not provided [RCV001288624] |
ChrX:123482911 [GRCh38] ChrX:122616762 [GRCh37] ChrX:Xq25 |
uncertain significance |
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_007325.5(GRIA3):c.69G>A (p.Leu23=) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV001330040] |
ChrX:123184604 [GRCh38] ChrX:122318456 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.268+16792G>A |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV001333569] |
ChrX:123202782 [GRCh38] ChrX:122336633 [GRCh37] ChrX:Xq25 |
uncertain significance |
NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp) |
single nucleotide variant |
Mental retardation, X-linked, syndromic, wu type [RCV001330039] |
ChrX:123403435 [GRCh38] ChrX:122537286 [GRCh37] ChrX:Xq25 |
uncertain significance |