Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Endometrial Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21933904 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Endometrial Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21933904 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8248200 | PMID:8281148 | PMID:8570614 | PMID:8733135 | PMID:8806646 | PMID:10520995 | PMID:10737800 | PMID:11604131 | PMID:15146197 | PMID:15203218 | PMID:19480842 | PMID:19909241 |
PMID:20138877 | PMID:21873635 | PMID:21900206 | PMID:21925246 | PMID:22199357 | PMID:25518740 | PMID:26186194 | PMID:26496610 | PMID:28514442 | PMID:28536997 | PMID:30745168 | PMID:31391242 |
PMID:33961781 | PMID:34709727 | PMID:34740135 | PMID:34857952 | PMID:35696571 | PMID:35748872 | PMID:36215168 |
PLXNA3 (Homo sapiens - human) |
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Plxna3 (Mus musculus - house mouse) |
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Plxna3 (Rattus norvegicus - Norway rat) |
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Plxna3 (Chinchilla lanigera - long-tailed chinchilla) |
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PLXNA3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PLXNA3 (Canis lupus familiaris - dog) |
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Plxna3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PLXNA3 (Sus scrofa - pig) |
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PLXNA3 (Chlorocebus sabaeus - green monkey) |
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Plxna3 (Heterocephalus glaber - naked mole-rat) |
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Variants in PLXNA3
218 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical 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 |
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 Xq28(chrX:150036146-156022206)x3 | copy number gain | See cases [RCV000050946] | ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28 |
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:10679-156013167)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 Xq28(chrX:149989929-156022206)x3 | copy number gain | See cases [RCV000050657] | ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28 |
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 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 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 Xq27.3-28(chrX:145879711-156022206)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] | ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 | copy number loss | See cases [RCV000051750] | ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28 |
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 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 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 Xq25-28(chrX:126537861-155996431)x1 | copy number loss | See cases [RCV000051729] | ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 | copy number loss | See cases [RCV000051732] | ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
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 Xq28(chrX:154394598-154554969)x1 | copy number loss | See cases [RCV000051760] | ChrX:154394598..154554969 [GRCh38] ChrX:153622940..153783184 [GRCh37] ChrX:153276134..153436378 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] | ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
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 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: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 Xq28(chrX:153932045-155611794)x3 | copy number gain | See cases [RCV000052529] | ChrX:153932045..155611794 [GRCh38] ChrX:152850692..154494649 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] | ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 | copy number gain | See cases [RCV000052491] | ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 | copy number gain | See cases [RCV000052445] | ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 | copy number gain | See cases [RCV000052471] | ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 | copy number gain | See cases [RCV000052474] | ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 | copy number gain | See cases [RCV000052475] | ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28 |
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 Xq28(chrX:154336596-154642063)x2 | copy number gain | See cases [RCV000054320] | ChrX:154336596..154642063 [GRCh38] ChrX:153564946..153870337 [GRCh37] ChrX:153218140..153523531 [NCBI36] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 | copy number gain | See cases [RCV000054321] | ChrX:154348522..154594454 [GRCh38] ChrX:153576890..153822717 [GRCh37] ChrX:153230084..153475911 [NCBI36] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 | copy number gain | See cases [RCV000054322] | ChrX:154394598..154626056 [GRCh38] ChrX:153622940..153854307 [GRCh37] ChrX:153276134..153507501 [NCBI36] ChrX:Xq28 |
uncertain significance |
NM_017514.4(PLXNA3):c.1383C>T (p.Pro461=) | single nucleotide variant | Malignant melanoma [RCV000073128] | ChrX:154463456 [GRCh38] ChrX:153691799 [GRCh37] ChrX:153344993 [NCBI36] ChrX:Xq28 |
not provided |
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 | copy number loss | See cases [RCV000663390] | ChrX:153576750..154563104 [GRCh37] ChrX:Xq28 |
pathogenic |
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 |
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 | copy number loss | See cases [RCV000133818] | ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
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 |
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)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: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: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 Xq27.3-28(chrX:144627217-155434735)x3 | copy number gain | See cases [RCV000133725] | ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28 |
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 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 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 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 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 Xq28(chrX:153296806-154604471)x2 | copy number gain | See cases [RCV000135451] | ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28 |
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: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 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 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 Xq25-28(chrX:128473235-156003229)x1 | copy number loss | See cases [RCV000136095] | ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28 |
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 Xq27.1-28(chrX:140783390-155611114)x2 | copy number gain | See cases [RCV000135881] | ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
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 Xq27.2-28(chrX:141650284-156022206)x1 | copy number loss | See cases [RCV000136912] | ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28 |
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 Xq28(chrX:153322656-155522304)x2 | copy number gain | See cases [RCV000136716] | ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 | copy number loss | See cases [RCV000136718] | ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28 |
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 Xq28(chrX:153276277-156003242)x3 | copy number gain | See cases [RCV000137498] | ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28 |
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 Xq26.3-28(chrX:137118983-156003242)x1 | copy number loss | See cases [RCV000137257] | ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 | copy number loss | See cases [RCV000137167] | ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28 |
pathogenic|uncertain significance |
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 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 Xq27.3-28(chrX:143553831-156003229)x1 | copy number loss | See cases [RCV000138679] | ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28 |
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 Xq28(chrX:153727116-154555423)x2 | copy number gain | See cases [RCV000138393] | ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28 |
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 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 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 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 Xq28(chrX:154348522-154770053)x2 | copy number gain | See cases [RCV000140492] | ChrX:154348522..154770053 [GRCh38] ChrX:153576890..153998328 [GRCh37] ChrX:153230084..153651522 [NCBI36] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 | copy number loss | See cases [RCV000139724] | ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
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 Xq28(chrX:148951460-155434653)x2 | copy number gain | See cases [RCV000143002] | ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28 |
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)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 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 |
NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln) | single nucleotide variant | Childhood-onset schizophrenia [RCV000202331]|PLXNA3-related condition [RCV003977502] | ChrX:154464420 [GRCh38] ChrX:153692763 [GRCh37] ChrX:Xq28 |
benign|likely benign |
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 |
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 | copy number gain | See cases [RCV000240046] | ChrX:153627408..154089925 [GRCh37] ChrX:Xq28 |
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 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 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-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: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: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 Xq27.3-28(chrX:142174780-155250222)x2 | copy number gain | See cases [RCV000240530] | ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
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 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: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: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 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: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 |
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 Xq28(chrX:152228560-154930047)x2 | copy number gain | See cases [RCV000447331] | ChrX:152228560..154930047 [GRCh37] ChrX:Xq28 |
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 Xq28(chrX:150253008-155233731)x1 | copy number loss | See cases [RCV000446761] | ChrX:150253008..155233731 [GRCh37] ChrX:Xq28 |
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:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
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 Xq25-28(chrX:126773628-155233731)x1 | copy number loss | See cases [RCV000448724] | ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28 |
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 Xq26.3-28(chrX:134114063-155233731)x1 | copy number loss | See cases [RCV000448865] | ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys) | single nucleotide variant | Autism [RCV000477925] | ChrX:154460397 [GRCh38] ChrX:153688737 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 | copy number gain | See cases [RCV000510478] | ChrX:151201777..154741703 [GRCh37] ChrX:Xq28 |
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 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 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 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 Xq27.3-28(chrX:146232592-155233731)x1 | copy number loss | See cases [RCV000511228] | ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28 |
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 |
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 | copy number loss | See cases [RCV000510866] | ChrX:151963528..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 | copy number loss | See cases [RCV000510920] | ChrX:151311551..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 | copy number gain | See cases [RCV000511034] | ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_017514.5(PLXNA3):c.3764G>T (p.Arg1255Leu) | single nucleotide variant | Inborn genetic diseases [RCV003261199] | ChrX:154467945 [GRCh38] ChrX:153696288 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.434C>A (p.Ala145Asp) | single nucleotide variant | Inborn genetic diseases [RCV003304145] | ChrX:154460617 [GRCh38] ChrX:153688957 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4708G>A (p.Gly1570Ser) | single nucleotide variant | Inborn genetic diseases [RCV003304459] | ChrX:154469697 [GRCh38] ChrX:153698040 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153295726)_(153786885_?)dup | duplication | Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] | ChrX:153295726..153786885 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_017514.5(PLXNA3):c.40G>A (p.Val14Met) | single nucleotide variant | Inborn genetic diseases [RCV003266552] | ChrX:154460223 [GRCh38] ChrX:153688563 [GRCh37] ChrX:Xq28 |
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 |
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_017514.5(PLXNA3):c.2936+8G>A | single nucleotide variant | PLXNA3-related condition [RCV003960207]|not provided [RCV000513259] | ChrX:154466520 [GRCh38] ChrX:153694863 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 | copy number loss | not provided [RCV000684386] | ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 | copy number loss | not provided [RCV000684397] | ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 | copy number loss | not provided [RCV000684401] | ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 | copy number gain | not provided [RCV000684402] | ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 | copy number gain | not provided [RCV000684413] | ChrX:153581543..153858492 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 | copy number gain | not provided [RCV000684414] | ChrX:153621005..153868484 [GRCh37] ChrX:Xq28 |
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 Xq22.1-28(chrX:99324651-155233731)x1 | copy number loss | not provided [RCV000684363] | ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 | copy number gain | not provided [RCV000684744] | ChrX:153560741..153761134 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 | copy number gain | not provided [RCV000684745] | ChrX:153560741..153858492 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_017514.5(PLXNA3):c.1985C>T (p.Thr662Met) | single nucleotide variant | not provided [RCV000709913] | ChrX:154464810 [GRCh38] ChrX:153693153 [GRCh37] ChrX:Xq28 |
not provided |
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 | copy number loss | See cases [RCV002285075] | ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) | single nucleotide variant | Inborn genetic diseases [RCV002533768]|PLXNA3-related condition [RCV003392576]|Short stature [RCV000736201]|not specified [RCV002249451] | ChrX:154460239 [GRCh38] ChrX:153688579 [GRCh37] ChrX:Xq28 |
likely pathogenic|benign|uncertain significance |
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) | single nucleotide variant | Inborn genetic diseases [RCV002533767]|Short stature [RCV000736200] | ChrX:154464026 [GRCh38] ChrX:153692369 [GRCh37] ChrX:Xq28 |
likely pathogenic|uncertain significance |
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 | copy number loss | not provided [RCV000753810] | ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153675171-153692561)x3 | copy number gain | not provided [RCV000753937] | ChrX:153675171..153692561 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153675171-153692834)x3 | copy number gain | not provided [RCV000753938] | ChrX:153675171..153692834 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153675171-153717512)x3 | copy number gain | not provided [RCV000753939] | ChrX:153675171..153717512 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 | copy number loss | not provided [RCV000753815] | ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
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:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [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:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autism [RCV000754365] | ChrX:1..156040895 [GRCh38] 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 |
NM_017514.5(PLXNA3):c.*5022_*5023insG | insertion | not provided [RCV001648221] | ChrX:154477707..154477708 [GRCh38] ChrX:153706047..153706048 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.5478G>A (p.Ala1826=) | single nucleotide variant | not provided [RCV000896724] | ChrX:154471596 [GRCh38] ChrX:153699939 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2521C>T (p.Arg841Cys) | single nucleotide variant | Inborn genetic diseases [RCV003245718] | ChrX:154465836 [GRCh38] ChrX:153694179 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1322G>A (p.Arg441Gln) | single nucleotide variant | PLXNA3-related condition [RCV003900808]|not provided [RCV001573132] | ChrX:154463395 [GRCh38] ChrX:153691738 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2342-8G>A | single nucleotide variant | PLXNA3-related condition [RCV003910457]|not provided [RCV000884927] | ChrX:154465649 [GRCh38] ChrX:153693992 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.825C>T (p.Tyr275=) | single nucleotide variant | PLXNA3-related condition [RCV003933158]|not provided [RCV000929542] | ChrX:154461329 [GRCh38] ChrX:153689669 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_017514.5(PLXNA3):c.1255G>A (p.Ala419Thr) | single nucleotide variant | PLXNA3-related condition [RCV003958178]|not provided [RCV000903387] | ChrX:154462248 [GRCh38] ChrX:153690588 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_017514.5(PLXNA3):c.2245-7C>T | single nucleotide variant | PLXNA3-related condition [RCV003968292]|not provided [RCV000904264] | ChrX:154465417 [GRCh38] ChrX:153693760 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.744G>A (p.Thr248=) | single nucleotide variant | PLXNA3-related condition [RCV003972933]|not provided [RCV000972357] | ChrX:154461248 [GRCh38] ChrX:153689588 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.2721G>C (p.Pro907=) | single nucleotide variant | PLXNA3-related condition [RCV003922956]|not provided [RCV000900614] | ChrX:154466192 [GRCh38] ChrX:153694535 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1639A>G (p.Asn547Asp) | single nucleotide variant | PLXNA3-related condition [RCV003958153]|not provided [RCV000901881] | ChrX:154464042 [GRCh38] ChrX:153692385 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.138C>T (p.Phe46=) | single nucleotide variant | PLXNA3-related condition [RCV003960443]|not provided [RCV000925975] | ChrX:154460321 [GRCh38] ChrX:153688661 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1958C>T (p.Pro653Leu) | single nucleotide variant | PLXNA3-related condition [RCV003928547]|not provided [RCV000973066] | ChrX:154464783 [GRCh38] ChrX:153693126 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.4077C>T (p.Arg1359=) | single nucleotide variant | PLXNA3-related condition [RCV003936157]|not provided [RCV000973067] | ChrX:154468416 [GRCh38] ChrX:153696759 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.882C>T (p.Ser294=) | single nucleotide variant | PLXNA3-related condition [RCV003960832]|not provided [RCV000971096] | ChrX:154461386 [GRCh38] ChrX:153689726 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_017514.5(PLXNA3):c.1628G>A (p.Arg543Gln) | single nucleotide variant | not provided [RCV000905315] | ChrX:154464031 [GRCh38] ChrX:153692374 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.2289T>C (p.Phe763=) | single nucleotide variant | not provided [RCV000948168] | ChrX:154465468 [GRCh38] ChrX:153693811 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.2589G>C (p.Glu863Asp) | single nucleotide variant | not provided [RCV000948169]|not specified [RCV002249582] | ChrX:154465991 [GRCh38] ChrX:153694334 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.3723C>G (p.Ala1241=) | single nucleotide variant | not provided [RCV000948189] | ChrX:154467904 [GRCh38] ChrX:153696247 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.320G>A (p.Arg107His) | single nucleotide variant | PLXNA3-related condition [RCV003932831]|not provided [RCV000901485] | ChrX:154460503 [GRCh38] ChrX:153688843 [GRCh37] ChrX:Xq28 |
benign|likely benign |
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) | copy number gain | not provided [RCV000767679] | ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
NM_017514.5(PLXNA3):c.1121C>T (p.Pro374Leu) | single nucleotide variant | not provided [RCV000996074] | ChrX:154461625 [GRCh38] ChrX:153689965 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_017514.5(PLXNA3):c.3462T>G (p.Ala1154=) | single nucleotide variant | not provided [RCV000948188] | ChrX:154467565 [GRCh38] ChrX:153695908 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.1237G>A (p.Gly413Ser) | single nucleotide variant | PLXNA3-related condition [RCV003958098]|not provided [RCV000898505] | ChrX:154462230 [GRCh38] ChrX:153690570 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2202C>T (p.Ala734=) | single nucleotide variant | PLXNA3-related condition [RCV003960440]|not provided [RCV000925325] | ChrX:154465176 [GRCh38] ChrX:153693519 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2469G>A (p.Pro823=) | single nucleotide variant | PLXNA3-related condition [RCV003968359]|not provided [RCV000908669] | ChrX:154465784 [GRCh38] ChrX:153694127 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_017514.5(PLXNA3):c.3513G>A (p.Pro1171=) | single nucleotide variant | PLXNA3-related condition [RCV003983251]|not provided [RCV000892257] | ChrX:154467616 [GRCh38] ChrX:153695959 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_017514.5(PLXNA3):c.266G>A (p.Arg89His) | single nucleotide variant | PLXNA3-related condition [RCV003958152]|not provided [RCV000901880] | ChrX:154460449 [GRCh38] ChrX:153688789 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.1150G>A (p.Gly384Ser) | single nucleotide variant | PLXNA3-related condition [RCV003933068]|not provided [RCV000917701] | ChrX:154462143 [GRCh38] ChrX:153690483 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.2044-4G>A | single nucleotide variant | PLXNA3-related condition [RCV003950498]|not provided [RCV000897702] | ChrX:154465014 [GRCh38] ChrX:153693357 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.1878G>A (p.Val626=) | single nucleotide variant | not provided [RCV000916826] | ChrX:154464451 [GRCh38] ChrX:153692794 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5598C>T (p.Leu1866=) | single nucleotide variant | PLXNA3-related condition [RCV003960475]|not provided [RCV000930158] | ChrX:154472667 [GRCh38] ChrX:153701010 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.402G>A (p.Pro134=) | single nucleotide variant | PLXNA3-related condition [RCV003970446]|not provided [RCV000917381] | ChrX:154460585 [GRCh38] ChrX:153688925 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5301G>A (p.Gly1767=) | single nucleotide variant | PLXNA3-related condition [RCV003960529]|not provided [RCV000938153] | ChrX:154471249 [GRCh38] ChrX:153699592 [GRCh37] ChrX:Xq28 |
likely benign |
NC_000023.10:g.(?_152954020)_(154096327_?)del | deletion | Adrenoleukodystrophy [RCV000815921] | ChrX:152954020..154096327 [GRCh37] ChrX:Xq28 |
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 |
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_017514.5(PLXNA3):c.71G>A (p.Arg24His) | single nucleotide variant | PLXNA3-related condition [RCV003910650]|not provided [RCV000894389] | ChrX:154460254 [GRCh38] ChrX:153688594 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.1298G>A (p.Arg433His) | single nucleotide variant | PLXNA3-related condition [RCV003926207]|not provided [RCV000963411] | ChrX:154462291 [GRCh38] ChrX:153690631 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.1740G>A (p.Ala580=) | single nucleotide variant | PLXNA3-related condition [RCV003913186]|not provided [RCV000940694] | ChrX:154464225 [GRCh38] ChrX:153692568 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) | copy number gain | Syndromic X-linked intellectual disability Lubs type [RCV003214133] | ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
NM_017514.5(PLXNA3):c.12C>G (p.Val4=) | single nucleotide variant | PLXNA3-related condition [RCV003915970]|not provided [RCV000958377] | ChrX:154460195 [GRCh38] ChrX:153688535 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 | copy number gain | not provided [RCV000845970] | ChrX:153556428..153868487 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 | copy number loss | not provided [RCV000849097] | ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
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 Xq25-28(chrX:122132166-155097214) | copy number loss | Intellectual disability [RCV001249592] | ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 | copy number gain | not provided [RCV000847027] | ChrX:153566612..153731506 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 | copy number gain | not provided [RCV000847592] | ChrX:153609873..153815499 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 |
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 Xq25-28(chrX:122757437-155208244)x1 | copy number loss | Premature ovarian insufficiency [RCV000852349] | ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
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 Xq24-28(chrX:118150047-155233731)x1 | copy number loss | not provided [RCV000847838] | ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_017514.5(PLXNA3):c.2282T>C (p.Leu761Pro) | single nucleotide variant | Inborn genetic diseases [RCV003292364]|PLXNA3-related condition [RCV003396980] | ChrX:154465461 [GRCh38] ChrX:153693804 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4 | copy number gain | Chromosome Xq28 duplication syndrome [RCV003313724] | ChrX:153566798..153748208 [GRCh37] ChrX:Xq28 |
not provided |
NC_000023.10:g.(?_152014869)_(154563736_?)del | deletion | Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003122393]|Dyskeratosis congenita [RCV003105406]|not provided [RCV003105407] | ChrX:152014869..154563736 [GRCh37] ChrX:Xq28 |
pathogenic|uncertain significance|no classifications from unflagged records |
NC_000023.10:g.(?_153585782)_(153775961_?)dup | duplication | Heterotopia, periventricular, X-linked dominant [RCV003107407] | ChrX:153585782..153775961 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4454C>T (p.Pro1485Leu) | single nucleotide variant | not provided [RCV001574015] | ChrX:154469075 [GRCh38] ChrX:153697418 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.514G>A (p.Asp172Asn) | single nucleotide variant | Inborn genetic diseases [RCV003251116] | ChrX:154460697 [GRCh38] ChrX:153689037 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1576G>A (p.Ala526Thr) | single nucleotide variant | Inborn genetic diseases [RCV003252244]|PLXNA3-related condition [RCV003900996] | ChrX:154463979 [GRCh38] ChrX:153692322 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3550G>C (p.Asp1184His) | single nucleotide variant | not provided [RCV001723276] | ChrX:154467653 [GRCh38] ChrX:153695996 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3441+5G>A | single nucleotide variant | PLXNA3-related condition [RCV003942877]|not provided [RCV000927423] | ChrX:154467476 [GRCh38] ChrX:153695819 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3219C>T (p.Asn1073=) | single nucleotide variant | PLXNA3-related condition [RCV003906075]|not provided [RCV000974030] | ChrX:154467249 [GRCh38] ChrX:153695592 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.786C>T (p.Ile262=) | single nucleotide variant | PLXNA3-related condition [RCV003962910]|not provided [RCV000974070] | ChrX:154461290 [GRCh38] ChrX:153689630 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.1737G>A (p.Ala579=) | single nucleotide variant | PLXNA3-related condition [RCV003932928]|not provided [RCV000907920] | ChrX:154464222 [GRCh38] ChrX:153692565 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_017514.5(PLXNA3):c.4001G>A (p.Gly1334Glu) | single nucleotide variant | PLXNA3-related condition [RCV003933266]|not provided [RCV000948170] | ChrX:154468340 [GRCh38] ChrX:153696683 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.933G>A (p.Pro311=) | single nucleotide variant | PLXNA3-related condition [RCV003968053]|not provided [RCV000886382] | ChrX:154461437 [GRCh38] ChrX:153689777 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.1510G>A (p.Gly504Arg) | single nucleotide variant | not provided [RCV000898317] | ChrX:154463653 [GRCh38] ChrX:153691996 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.172C>T (p.Pro58Ser) | single nucleotide variant | Inborn genetic diseases [RCV002547240]|PLXNA3-related condition [RCV003960647]|not provided [RCV000953409] | ChrX:154460355 [GRCh38] ChrX:153688695 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.1896C>T (p.Asp632=) | single nucleotide variant | PLXNA3-related condition [RCV003968392]|not provided [RCV000910447] | ChrX:154464469 [GRCh38] ChrX:153692812 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1296G>A (p.Thr432=) | single nucleotide variant | PLXNA3-related condition [RCV003957937]|not provided [RCV000890377] | ChrX:154462289 [GRCh38] ChrX:153690629 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_017514.5(PLXNA3):c.3405G>A (p.Val1135=) | single nucleotide variant | PLXNA3-related condition [RCV003923198]|not provided [RCV000913996] | ChrX:154467435 [GRCh38] ChrX:153695778 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_017514.5(PLXNA3):c.5512C>T (p.Arg1838Cys) | single nucleotide variant | not provided [RCV001532225] | ChrX:154471630 [GRCh38] ChrX:153699973 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.720_734del (p.Leu241_Thr245del) | deletion | not provided [RCV001091836] | ChrX:154461222..154461236 [GRCh38] ChrX:153689562..153689576 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2 | copy number gain | Intellectual disability [RCV001638056] | ChrX:153263517..155260560 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_017514.5(PLXNA3):c.1049G>A (p.Arg350Gln) | single nucleotide variant | PLXNA3-related condition [RCV003976066]|not provided [RCV001714051] | ChrX:154461553 [GRCh38] ChrX:153689893 [GRCh37] ChrX:Xq28 |
benign |
GRCh37/hg19 Xq28(chrX:152372767-155233731) | copy number gain | Chromosome Xq28 duplication syndrome [RCV002280621]|Syndromic X-linked intellectual disability Lubs type [RCV002280620] | ChrX:152372767..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 | copy number gain | See cases [RCV001263024] | ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_017514.5(PLXNA3):c.2002C>G (p.His668Asp) | single nucleotide variant | Neurodevelopmental disorder [RCV001262953] | ChrX:154464827 [GRCh38] ChrX:153693170 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 Xp22.33-q28(chrX:1-155270560) | copy number loss | Turner syndrome [RCV002280668] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_017514.5(PLXNA3):c.788_797del (p.Val263fs) | deletion | Disorder of sexual differentiation [RCV001568329] | ChrX:154461291..154461300 [GRCh38] ChrX:153689631..153689640 [GRCh37] ChrX:Xq28 |
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 |
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_017514.5(PLXNA3):c.4075C>T (p.Arg1359Cys) | single nucleotide variant | Hypogonadotropic hypogonadism [RCV001374683] | ChrX:154468414 [GRCh38] ChrX:153696757 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.322C>T (p.Arg108Cys) | single nucleotide variant | Hypogonadotropic hypogonadism [RCV001374685] | ChrX:154460505 [GRCh38] ChrX:153688845 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3256C>G (p.Leu1086Val) | single nucleotide variant | Hypogonadotropic hypogonadism [RCV001374682] | ChrX:154467286 [GRCh38] ChrX:153695629 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1936T>C (p.Ser646Pro) | single nucleotide variant | Hypogonadotropic hypogonadism [RCV001374681] | ChrX:154464761 [GRCh38] ChrX:153693104 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_017514.5(PLXNA3):c.589A>C (p.Ser197Arg) | single nucleotide variant | not provided [RCV002280219] | ChrX:154460772 [GRCh38] ChrX:153689112 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_152014869)_(155171615_?)del | deletion | 3-Methylglutaconic aciduria type 2 [RCV003119101]|Adrenoleukodystrophy [RCV003119100]|Creatine transporter deficiency [RCV003119103]|Heterotopia, periventricular, X-linked dominant [RCV003109218]|Spastic paraplegia [RCV003109219]|X-linked Emery-Dreifuss muscular dystrophy [RCV003119102] | ChrX:152014869..155171615 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_017514.5(PLXNA3):c.3280C>T (p.Gln1094Ter) | single nucleotide variant | not specified [RCV002248106] | ChrX:154467310 [GRCh38] ChrX:153695653 [GRCh37] ChrX:Xq28 |
uncertain significance |
NC_000023.10:g.(?_153640181)_(153775961_?)dup | duplication | 3-Methylglutaconic aciduria type 2 [RCV003119319]|Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV003119320]|not provided [RCV003109229] | ChrX:153640181..153775961 [GRCh37] ChrX:Xq28 |
uncertain significance|no classifications from unflagged records |
NM_017514.5(PLXNA3):c.832T>C (p.Phe278Leu) | single nucleotide variant | Inborn genetic diseases [RCV003276978] | ChrX:154461336 [GRCh38] ChrX:153689676 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1008_1009insAGAG (p.Leu337fs) | insertion | not provided [RCV001825270] | ChrX:154461512..154461513 [GRCh38] ChrX:153689852..153689853 [GRCh37] ChrX:Xq28 |
not provided |
GRCh37/hg19 Xq28(chrX:153093501-153792322)x2 | copy number gain | not provided [RCV001834439] | ChrX:153093501..153792322 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_017514.5(PLXNA3):c.746_795delinsCCCAGACACAGCGGGCGAGAAATTTTCACGTCCAAAAT (p.Leu249_Met265delinsProGlnThrGlnArgAlaArgAsnPheHisValGlnAsn) | indel | PLXNA3-associated seizure disorder [RCV001839114] | ChrX:154461250..154461299 [GRCh38] ChrX:153689590..153689639 [GRCh37] ChrX:Xq28 |
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 |
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_017514.5(PLXNA3):c.3628A>T (p.Ile1210Phe) | single nucleotide variant | not provided [RCV001839324] | ChrX:154467809 [GRCh38] ChrX:153696152 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV001839062] | ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28 |
pathogenic |
NC_000023.10:g.(?_153688524)_(155171615_?)del | deletion | not provided [RCV002011857] | ChrX:153688524..155171615 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3202-10G>A | single nucleotide variant | not provided [RCV002224852] | ChrX:154467222 [GRCh38] ChrX:153695565 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele | deletion | Immunodeficiency 33 [RCV002247742]|Splenomegaly [RCV002247743] | ChrX:153427468..156004919 [GRCh38] ChrX:Xq28 |
pathogenic |
NC_000023.10:g.(?_153001546)_(154563736_?)dup | duplication | Adrenoleukodystrophy [RCV003119108] | ChrX:153001546..154563736 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) | copy number loss | Turner syndrome [RCV002280672] | ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153529891-155114697)x3 | copy number gain | not provided [RCV002265532] | ChrX:153529891..155114697 [GRCh37] ChrX:Xq28 |
not provided |
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 | copy number loss | See cases [RCV002292203] | ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28 |
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 Xp22.33-q28(chrX:61545-155226048)x2 | copy number gain | Klinefelter syndrome [RCV002282732] | ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_017514.5(PLXNA3):c.4811C>T (p.Thr1604Met) | single nucleotide variant | Inborn genetic diseases [RCV003260141] | ChrX:154469992 [GRCh38] ChrX:153698335 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153613883-155233731)x2 | copy number gain | not provided [RCV002472481] | ChrX:153613883..155233731 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 | copy number loss | not provided [RCV002474567] | ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) | copy number gain | Klinefelter syndrome [RCV003236730] | ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3 | copy number gain | Septo-optic dysplasia sequence [RCV002305872] | ChrX:153560562..153864851 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_017514.5(PLXNA3):c.2038C>T (p.Pro680Ser) | single nucleotide variant | Inborn genetic diseases [RCV002753476]|PLXNA3-related condition [RCV003427681] | ChrX:154464863 [GRCh38] ChrX:153693206 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2942A>C (p.Asp981Ala) | single nucleotide variant | Inborn genetic diseases [RCV002774172]|PLXNA3-related condition [RCV003420534] | ChrX:154466628 [GRCh38] ChrX:153694971 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1274A>G (p.His425Arg) | single nucleotide variant | Inborn genetic diseases [RCV002773256] | ChrX:154462267 [GRCh38] ChrX:153690607 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1143G>T (p.Gln381His) | single nucleotide variant | Inborn genetic diseases [RCV002772956] | ChrX:154462136 [GRCh38] ChrX:153690476 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3469G>A (p.Gly1157Ser) | single nucleotide variant | Inborn genetic diseases [RCV002864094] | ChrX:154467572 [GRCh38] ChrX:153695915 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.941A>C (p.Glu314Ala) | single nucleotide variant | Inborn genetic diseases [RCV002779203] | ChrX:154461445 [GRCh38] ChrX:153689785 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.55G>A (p.Gly19Ser) | single nucleotide variant | Inborn genetic diseases [RCV002970140]|PLXNA3-related condition [RCV003427647] | ChrX:154460238 [GRCh38] ChrX:153688578 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2717C>T (p.Pro906Leu) | single nucleotide variant | Inborn genetic diseases [RCV002682111] | ChrX:154466188 [GRCh38] ChrX:153694531 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1560A>C (p.Glu520Asp) | single nucleotide variant | Inborn genetic diseases [RCV002883608] | ChrX:154463963 [GRCh38] ChrX:153692306 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3026A>C (p.Asn1009Thr) | single nucleotide variant | Inborn genetic diseases [RCV002685276]|PLXNA3-related condition [RCV003420509] | ChrX:154466712 [GRCh38] ChrX:153695055 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2012C>T (p.Ser671Phe) | single nucleotide variant | Inborn genetic diseases [RCV002989917] | ChrX:154464837 [GRCh38] ChrX:153693180 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2239G>A (p.Ala747Thr) | single nucleotide variant | Inborn genetic diseases [RCV002992731]|PLXNA3-related condition [RCV003420499] | ChrX:154465213 [GRCh38] ChrX:153693556 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.341G>C (p.Ser114Thr) | single nucleotide variant | Inborn genetic diseases [RCV002974622]|PLXNA3-related condition [RCV003963764] | ChrX:154460524 [GRCh38] ChrX:153688864 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.1423A>G (p.Ile475Val) | single nucleotide variant | Inborn genetic diseases [RCV002974736] | ChrX:154463496 [GRCh38] ChrX:153691839 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.868C>T (p.Arg290Cys) | single nucleotide variant | Inborn genetic diseases [RCV002692782] | ChrX:154461372 [GRCh38] ChrX:153689712 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1460C>T (p.Pro487Leu) | single nucleotide variant | Inborn genetic diseases [RCV002707324] | ChrX:154463603 [GRCh38] ChrX:153691946 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.5570G>A (p.Arg1857Gln) | single nucleotide variant | Inborn genetic diseases [RCV002799412]|PLXNA3-related condition [RCV003963741] | ChrX:154472639 [GRCh38] ChrX:153700982 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.226C>T (p.Arg76Cys) | single nucleotide variant | Inborn genetic diseases [RCV002703641]|PLXNA3-related condition [RCV003936683] | ChrX:154460409 [GRCh38] ChrX:153688749 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.3571C>T (p.Arg1191Trp) | single nucleotide variant | Inborn genetic diseases [RCV002694607] | ChrX:154467674 [GRCh38] ChrX:153696017 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1114G>C (p.Glu372Gln) | single nucleotide variant | Inborn genetic diseases [RCV002737509] | ChrX:154461618 [GRCh38] ChrX:153689958 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.524C>T (p.Ser175Leu) | single nucleotide variant | Inborn genetic diseases [RCV002952288]|PLXNA3-related condition [RCV003420488] | ChrX:154460707 [GRCh38] ChrX:153689047 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3746C>T (p.Ala1249Val) | single nucleotide variant | Inborn genetic diseases [RCV002886814] | ChrX:154467927 [GRCh38] ChrX:153696270 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4266C>G (p.Phe1422Leu) | single nucleotide variant | Inborn genetic diseases [RCV002821887] | ChrX:154468708 [GRCh38] ChrX:153697051 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.627C>G (p.Ile209Met) | single nucleotide variant | Inborn genetic diseases [RCV002887902] | ChrX:154461131 [GRCh38] ChrX:153689471 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.983G>A (p.Arg328Gln) | single nucleotide variant | Inborn genetic diseases [RCV002693321] | ChrX:154461487 [GRCh38] ChrX:153689827 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1213C>G (p.Pro405Ala) | single nucleotide variant | Inborn genetic diseases [RCV002952308] | ChrX:154462206 [GRCh38] ChrX:153690546 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.79G>A (p.Val27Met) | single nucleotide variant | Inborn genetic diseases [RCV002739879]|PLXNA3-related condition [RCV003928938] | ChrX:154460262 [GRCh38] ChrX:153688602 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.2702C>T (p.Ser901Leu) | single nucleotide variant | Inborn genetic diseases [RCV002701620]|PLXNA3-related condition [RCV003918953] | ChrX:154466173 [GRCh38] ChrX:153694516 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.727C>G (p.Leu243Val) | single nucleotide variant | Inborn genetic diseases [RCV002696633] | ChrX:154461231 [GRCh38] ChrX:153689571 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4834C>T (p.Arg1612Cys) | single nucleotide variant | Inborn genetic diseases [RCV002875060] | ChrX:154470015 [GRCh38] ChrX:153698358 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.5467G>A (p.Val1823Ile) | single nucleotide variant | Inborn genetic diseases [RCV002789710]|PLXNA3-related condition [RCV003900925] | ChrX:154471585 [GRCh38] ChrX:153699928 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.431G>T (p.Gly144Val) | single nucleotide variant | Inborn genetic diseases [RCV002697874]|PLXNA3-related condition [RCV003963731] | ChrX:154460614 [GRCh38] ChrX:153688954 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1468A>T (p.Thr490Ser) | single nucleotide variant | Inborn genetic diseases [RCV002696688] | ChrX:154463611 [GRCh38] ChrX:153691954 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.719C>T (p.Thr240Met) | single nucleotide variant | Inborn genetic diseases [RCV002874542]|PLXNA3-related condition [RCV003420458] | ChrX:154461223 [GRCh38] ChrX:153689563 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3263G>A (p.Arg1088Gln) | single nucleotide variant | Inborn genetic diseases [RCV002712635] | ChrX:154467293 [GRCh38] ChrX:153695636 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3035G>A (p.Ser1012Asn) | single nucleotide variant | Inborn genetic diseases [RCV002742871] | ChrX:154466721 [GRCh38] ChrX:153695064 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3080G>A (p.Arg1027His) | single nucleotide variant | Inborn genetic diseases [RCV002697845] | ChrX:154466766 [GRCh38] ChrX:153695109 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2654C>T (p.Pro885Leu) | single nucleotide variant | Inborn genetic diseases [RCV002764448]|PLXNA3-related condition [RCV003395689] | ChrX:154466056 [GRCh38] ChrX:153694399 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2450G>A (p.Arg817Gln) | single nucleotide variant | Inborn genetic diseases [RCV002813373] | ChrX:154465765 [GRCh38] ChrX:153694108 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1015C>G (p.Leu339Val) | single nucleotide variant | Inborn genetic diseases [RCV002832569]|PLXNA3-related condition [RCV003420451] | ChrX:154461519 [GRCh38] ChrX:153689859 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.662C>T (p.Ala221Val) | single nucleotide variant | Inborn genetic diseases [RCV002988925] | ChrX:154461166 [GRCh38] ChrX:153689506 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1918G>A (p.Val640Ile) | single nucleotide variant | Inborn genetic diseases [RCV002988964]|PLXNA3-related condition [RCV003954016] | ChrX:154464491 [GRCh38] ChrX:153692834 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.2053G>A (p.Glu685Lys) | single nucleotide variant | Inborn genetic diseases [RCV002831768] | ChrX:154465027 [GRCh38] ChrX:153693370 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1268G>A (p.Arg423His) | single nucleotide variant | Inborn genetic diseases [RCV002808959]|PLXNA3-related condition [RCV003918963] | ChrX:154462261 [GRCh38] ChrX:153690601 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1225G>A (p.Asp409Asn) | single nucleotide variant | Inborn genetic diseases [RCV002988331]|PLXNA3-related condition [RCV003420502] | ChrX:154462218 [GRCh38] ChrX:153690558 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2462C>T (p.Pro821Leu) | single nucleotide variant | Inborn genetic diseases [RCV002877913]|PLXNA3-related condition [RCV003420455] | ChrX:154465777 [GRCh38] ChrX:153694120 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1585C>G (p.Pro529Ala) | single nucleotide variant | not provided [RCV002937393] | ChrX:154463988 [GRCh38] ChrX:153692331 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1733C>T (p.Ala578Val) | single nucleotide variant | Inborn genetic diseases [RCV003010973]|PLXNA3-related condition [RCV003954026] | ChrX:154464218 [GRCh38] ChrX:153692561 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.3572G>A (p.Arg1191Gln) | single nucleotide variant | Inborn genetic diseases [RCV002677831] | ChrX:154467675 [GRCh38] ChrX:153696018 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1492G>A (p.Ala498Thr) | single nucleotide variant | Inborn genetic diseases [RCV002723089] | ChrX:154463635 [GRCh38] ChrX:153691978 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4112C>T (p.Ala1371Val) | single nucleotide variant | Inborn genetic diseases [RCV002655849]|PLXNA3-related condition [RCV003946349] | ChrX:154468451 [GRCh38] ChrX:153696794 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.3976G>A (p.Val1326Met) | single nucleotide variant | Inborn genetic diseases [RCV002725011]|PLXNA3-related condition [RCV003395685] | ChrX:154468315 [GRCh38] ChrX:153696658 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.95C>T (p.Thr32Met) | single nucleotide variant | Inborn genetic diseases [RCV002652604] | ChrX:154460278 [GRCh38] ChrX:153688618 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.371G>A (p.Arg124His) | single nucleotide variant | Inborn genetic diseases [RCV003184940]|PLXNA3-related condition [RCV003919025] | ChrX:154460554 [GRCh38] ChrX:153688894 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.4926G>C (p.Glu1642Asp) | single nucleotide variant | Inborn genetic diseases [RCV003200628] | ChrX:154470107 [GRCh38] ChrX:153698450 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4856C>T (p.Thr1619Met) | single nucleotide variant | Inborn genetic diseases [RCV003287151] | ChrX:154470037 [GRCh38] ChrX:153698380 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1555C>T (p.Arg519Cys) | single nucleotide variant | Inborn genetic diseases [RCV003196146] | ChrX:154463958 [GRCh38] ChrX:153692301 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2099A>G (p.Gln700Arg) | single nucleotide variant | Inborn genetic diseases [RCV003208069]|PLXNA3-related condition [RCV003395716] | ChrX:154465073 [GRCh38] ChrX:153693416 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1048C>T (p.Arg350Trp) | single nucleotide variant | Inborn genetic diseases [RCV003179024]|PLXNA3-related condition [RCV003396940] | ChrX:154461552 [GRCh38] ChrX:153689892 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4495A>G (p.Asn1499Asp) | single nucleotide variant | Inborn genetic diseases [RCV003208501] | ChrX:154469116 [GRCh38] ChrX:153697459 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1627C>T (p.Arg543Trp) | single nucleotide variant | Inborn genetic diseases [RCV003185605] | ChrX:154464030 [GRCh38] ChrX:153692373 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.578C>A (p.Ala193Glu) | single nucleotide variant | Inborn genetic diseases [RCV003179573] | ChrX:154460761 [GRCh38] ChrX:153689101 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.653T>C (p.Leu218Ser) | single nucleotide variant | not provided [RCV003327250] | ChrX:154461157 [GRCh38] ChrX:153689497 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1768G>A (p.Gly590Ser) | single nucleotide variant | Inborn genetic diseases [RCV003342788] | ChrX:154464253 [GRCh38] ChrX:153692596 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1586C>T (p.Pro529Leu) | single nucleotide variant | Inborn genetic diseases [RCV003385907] | ChrX:154463989 [GRCh38] ChrX:153692332 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.776C>T (p.Thr259Met) | single nucleotide variant | PLXNA3-related condition [RCV003419115] | ChrX:154461280 [GRCh38] ChrX:153689620 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.409C>T (p.Arg137Cys) | single nucleotide variant | PLXNA3-related condition [RCV003419248] | ChrX:154460592 [GRCh38] ChrX:153688932 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2545G>T (p.Val849Leu) | single nucleotide variant | Inborn genetic diseases [RCV003383024] | ChrX:154465947 [GRCh38] ChrX:153694290 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4027G>A (p.Val1343Met) | single nucleotide variant | Inborn genetic diseases [RCV003375799]|not provided [RCV003436034] | ChrX:154468366 [GRCh38] ChrX:153696709 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.3459C>T (p.Pro1153=) | single nucleotide variant | not provided [RCV003440086] | ChrX:154467562 [GRCh38] ChrX:153695905 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3411C>T (p.Asp1137=) | single nucleotide variant | PLXNA3-related condition [RCV003980953]|not provided [RCV003440085] | ChrX:154467441 [GRCh38] ChrX:153695784 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3164G>A (p.Arg1055Gln) | single nucleotide variant | PLXNA3-related condition [RCV003391273] | ChrX:154467113 [GRCh38] ChrX:153695456 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:152916854-154775938)x2 | copy number gain | not provided [RCV003483986] | ChrX:152916854..154775938 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_017514.5(PLXNA3):c.946G>A (p.Val316Ile) | single nucleotide variant | PLXNA3-related condition [RCV003408631] | ChrX:154461450 [GRCh38] ChrX:153689790 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153549167-153858492)x2 | copy number gain | not provided [RCV003483990] | ChrX:153549167..153858492 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:153606456-153828848)x2 | copy number gain | not provided [RCV003483991] | ChrX:153606456..153828848 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_017514.5(PLXNA3):c.1928C>T (p.Ser643Leu) | single nucleotide variant | PLXNA3-related condition [RCV003397347] | ChrX:154464501 [GRCh38] ChrX:153692844 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.241C>G (p.Pro81Ala) | single nucleotide variant | PLXNA3-related condition [RCV003402614] | ChrX:154460424 [GRCh38] ChrX:153688764 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2087T>C (p.Val696Ala) | single nucleotide variant | PLXNA3-related condition [RCV003402682] | ChrX:154465061 [GRCh38] ChrX:153693404 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2043+7C>T | single nucleotide variant | PLXNA3-related condition [RCV003402982] | ChrX:154464875 [GRCh38] ChrX:153693218 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:153613883-153862775)x3 | copy number gain | not provided [RCV003485333] | ChrX:153613883..153862775 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 | copy number loss | not provided [RCV003483929] | ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_017514.5(PLXNA3):c.4910A>G (p.His1637Arg) | single nucleotide variant | not provided [RCV003436874] | ChrX:154470091 [GRCh38] ChrX:153698434 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 | copy number loss | not provided [RCV003483930] | ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 | copy number loss | not provided [RCV003483936] | ChrX:148598351..154943978 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_017514.5(PLXNA3):c.4089C>T (p.Thr1363=) | single nucleotide variant | PLXNA3-related condition [RCV003939043]|not provided [RCV003436872] | ChrX:154468428 [GRCh38] ChrX:153696771 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4290G>A (p.Glu1430=) | single nucleotide variant | not provided [RCV003436873] | ChrX:154468825 [GRCh38] ChrX:153697168 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4698G>A (p.Gln1566=) | single nucleotide variant | PLXNA3-related condition [RCV003427858] | ChrX:154469482 [GRCh38] ChrX:153697825 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4657G>A (p.Glu1553Lys) | single nucleotide variant | PLXNA3-related condition [RCV003420963] | ChrX:154469441 [GRCh38] ChrX:153697784 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.144C>T (p.Gly48=) | single nucleotide variant | PLXNA3-related condition [RCV003908972]|not provided [RCV003440067] | ChrX:154460327 [GRCh38] ChrX:153688667 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2043+8G>A | single nucleotide variant | PLXNA3-related condition [RCV003901083]|not provided [RCV003440082] | ChrX:154464876 [GRCh38] ChrX:153693219 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1512G>C (p.Gly504=) | single nucleotide variant | not provided [RCV003440080] | ChrX:154463655 [GRCh38] ChrX:153691998 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.447C>T (p.Asp149=) | single nucleotide variant | PLXNA3-related condition [RCV003966441]|not provided [RCV003440071] | ChrX:154460630 [GRCh38] ChrX:153688970 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.370C>T (p.Arg124Cys) | single nucleotide variant | PLXNA3-related condition [RCV003901081]|not provided [RCV003440070] | ChrX:154460553 [GRCh38] ChrX:153688893 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.252C>T (p.Arg84=) | single nucleotide variant | PLXNA3-related condition [RCV003919237]|not provided [RCV003440069] | ChrX:154460435 [GRCh38] ChrX:153688775 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1997G>A (p.Arg666His) | single nucleotide variant | PLXNA3-related condition [RCV003402654] | ChrX:154464822 [GRCh38] ChrX:153693165 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.998G>A (p.Arg333Gln) | single nucleotide variant | PLXNA3-related condition [RCV003402697] | ChrX:154461502 [GRCh38] ChrX:153689842 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.3585+5G>A | single nucleotide variant | not provided [RCV003440089] | ChrX:154467693 [GRCh38] ChrX:153696036 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2059C>T (p.Leu687=) | single nucleotide variant | not provided [RCV003440083] | ChrX:154465033 [GRCh38] ChrX:153693376 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.759G>A (p.Ala253=) | single nucleotide variant | PLXNA3-related condition [RCV003908973]|not provided [RCV003440073] | ChrX:154461263 [GRCh38] ChrX:153689603 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.685G>A (p.Gly229Ser) | single nucleotide variant | PLXNA3-related condition [RCV003419237] | ChrX:154461189 [GRCh38] ChrX:153689529 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.1354G>C (p.Glu452Gln) | single nucleotide variant | PLXNA3-related condition [RCV003412017] | ChrX:154463427 [GRCh38] ChrX:153691770 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1888G>A (p.Gly630Ser) | single nucleotide variant | PLXNA3-related condition [RCV003427839] | ChrX:154464461 [GRCh38] ChrX:153692804 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.928G>A (p.Val310Met) | single nucleotide variant | PLXNA3-related condition [RCV003427840] | ChrX:154461432 [GRCh38] ChrX:153689772 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1691A>G (p.Asn564Ser) | single nucleotide variant | Autism [RCV003455874] | ChrX:154464176 [GRCh38] ChrX:153692519 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3571C>A (p.Arg1191=) | single nucleotide variant | PLXNA3-related condition [RCV003901084]|not provided [RCV003440088] | ChrX:154467674 [GRCh38] ChrX:153696017 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3518C>T (p.Ser1173Leu) | single nucleotide variant | not provided [RCV003440087] | ChrX:154467621 [GRCh38] ChrX:153695964 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3309C>T (p.Phe1103=) | single nucleotide variant | PLXNA3-related condition [RCV003946629]|not provided [RCV003440084] | ChrX:154467339 [GRCh38] ChrX:153695682 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1596T>C (p.Phe532=) | single nucleotide variant | not provided [RCV003440081] | ChrX:154463999 [GRCh38] ChrX:153692342 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1284C>T (p.Val428=) | single nucleotide variant | PLXNA3-related condition [RCV003946628]|not provided [RCV003440079] | ChrX:154462277 [GRCh38] ChrX:153690617 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1134+7C>T | single nucleotide variant | not provided [RCV003440078] | ChrX:154461645 [GRCh38] ChrX:153689985 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.974A>C (p.Gln325Pro) | single nucleotide variant | not provided [RCV003440077] | ChrX:154461478 [GRCh38] ChrX:153689818 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.945C>T (p.Asp315=) | single nucleotide variant | PLXNA3-related condition [RCV003901082]|not provided [RCV003440076] | ChrX:154461449 [GRCh38] ChrX:153689789 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.855C>T (p.Arg285=) | single nucleotide variant | PLXNA3-related condition [RCV003966442]|not provided [RCV003440075] | ChrX:154461359 [GRCh38] ChrX:153689699 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3488A>G (p.Tyr1163Cys) | single nucleotide variant | PLXNA3-related condition [RCV003404362] | ChrX:154467591 [GRCh38] ChrX:153695934 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3710C>T (p.Ala1237Val) | single nucleotide variant | PLXNA3-related condition [RCV003392736] | ChrX:154467891 [GRCh38] ChrX:153696234 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.841G>A (p.Gly281Ser) | single nucleotide variant | not provided [RCV003440074] | ChrX:154461345 [GRCh38] ChrX:153689685 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.997C>T (p.Arg333Trp) | single nucleotide variant | PLXNA3-related condition [RCV003408688] | ChrX:154461501 [GRCh38] ChrX:153689841 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4987-4A>G | single nucleotide variant | not provided [RCV003436875] | ChrX:154470438 [GRCh38] ChrX:153698781 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5103G>A (p.Ala1701=) | single nucleotide variant | PLXNA3-related condition [RCV003966443]|not provided [RCV003436876] | ChrX:154470558 [GRCh38] ChrX:153698901 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.119G>A (p.Arg40Gln) | single nucleotide variant | PLXNA3-related condition [RCV003416646] | ChrX:154460302 [GRCh38] ChrX:153688642 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1556G>T (p.Arg519Leu) | single nucleotide variant | PLXNA3-related condition [RCV003427794] | ChrX:154463959 [GRCh38] ChrX:153692302 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1057A>G (p.Ile353Val) | single nucleotide variant | PLXNA3-related condition [RCV003427867] | ChrX:154461561 [GRCh38] ChrX:153689901 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4915G>A (p.Asp1639Asn) | single nucleotide variant | PLXNA3-related condition [RCV003392740] | ChrX:154470096 [GRCh38] ChrX:153698439 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2655G>A (p.Pro885=) | single nucleotide variant | PLXNA3-related condition [RCV003414214] | ChrX:154466057 [GRCh38] ChrX:153694400 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3441+8C>T | single nucleotide variant | PLXNA3-related condition [RCV003402877] | ChrX:154467479 [GRCh38] ChrX:153695822 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.252C>G (p.Arg84=) | single nucleotide variant | PLXNA3-related condition [RCV003392797] | ChrX:154460435 [GRCh38] ChrX:153688775 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.799G>A (p.Ala267Thr) | single nucleotide variant | PLXNA3-related condition [RCV003392801] | ChrX:154461303 [GRCh38] ChrX:153689643 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_017514.5(PLXNA3):c.314C>T (p.Ala105Val) | single nucleotide variant | PLXNA3-related condition [RCV003410417] | ChrX:154460497 [GRCh38] ChrX:153688837 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.827T>C (p.Val276Ala) | single nucleotide variant | PLXNA3-related condition [RCV003410455] | ChrX:154461331 [GRCh38] ChrX:153689671 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2570G>A (p.Arg857Gln) | single nucleotide variant | PLXNA3-related condition [RCV003405785] | ChrX:154465972 [GRCh38] ChrX:153694315 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2761G>A (p.Asp921Asn) | single nucleotide variant | PLXNA3-related condition [RCV003414517] | ChrX:154466232 [GRCh38] ChrX:153694575 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3182G>A (p.Arg1061His) | single nucleotide variant | PLXNA3-related condition [RCV003410664] | ChrX:154467131 [GRCh38] ChrX:153695474 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4621A>G (p.Ile1541Val) | single nucleotide variant | PLXNA3-related condition [RCV003402203] | ChrX:154469405 [GRCh38] ChrX:153697748 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4754T>C (p.Met1585Thr) | single nucleotide variant | PLXNA3-related condition [RCV003414591] | ChrX:154469743 [GRCh38] ChrX:153698086 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1558G>A (p.Glu520Lys) | single nucleotide variant | PLXNA3-related condition [RCV003418753] | ChrX:154463961 [GRCh38] ChrX:153692304 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3657G>A (p.Pro1219=) | single nucleotide variant | PLXNA3-related condition [RCV003399841] | ChrX:154467838 [GRCh38] ChrX:153696181 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4808G>A (p.Arg1603His) | single nucleotide variant | PLXNA3-related condition [RCV003410777] | ChrX:154469989 [GRCh38] ChrX:153698332 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.262C>T (p.His88Tyr) | single nucleotide variant | PLXNA3-related condition [RCV003410838] | ChrX:154460445 [GRCh38] ChrX:153688785 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1808G>A (p.Arg603Gln) | single nucleotide variant | PLXNA3-related condition [RCV003399762] | ChrX:154464293 [GRCh38] ChrX:153692636 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.516C>T (p.Asp172=) | single nucleotide variant | PLXNA3-related condition [RCV003919238]|not provided [RCV003440072] | ChrX:154460699 [GRCh38] ChrX:153689039 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.935C>G (p.Ala312Gly) | single nucleotide variant | PLXNA3-related condition [RCV003403000] | ChrX:154461439 [GRCh38] ChrX:153689779 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1204G>A (p.Glu402Lys) | single nucleotide variant | PLXNA3-related condition [RCV003427891] | ChrX:154462197 [GRCh38] ChrX:153690537 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2723C>T (p.Pro908Leu) | single nucleotide variant | PLXNA3-related condition [RCV003427898] | ChrX:154466194 [GRCh38] ChrX:153694537 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3419C>T (p.Pro1140Leu) | single nucleotide variant | PLXNA3-related condition [RCV003405983] | ChrX:154467449 [GRCh38] ChrX:153695792 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.166C>G (p.Leu56Val) | single nucleotide variant | PLXNA3-related condition [RCV003414117] | ChrX:154460349 [GRCh38] ChrX:153688689 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.196C>T (p.His66Tyr) | single nucleotide variant | not provided [RCV003440068] | ChrX:154460379 [GRCh38] ChrX:153688719 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1540C>T (p.Arg514Ter) | single nucleotide variant | not specified [RCV003490805] | ChrX:154463683 [GRCh38] ChrX:153692026 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) | copy number loss | not specified [RCV003986202] | ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) | copy number loss | not specified [RCV003986220] | ChrX:119395676..154930047 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_017514.5(PLXNA3):c.3549C>T (p.Cys1183=) | single nucleotide variant | PLXNA3-related condition [RCV003892317] | ChrX:154467652 [GRCh38] ChrX:153695995 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2999C>T (p.Pro1000Leu) | single nucleotide variant | PLXNA3-related condition [RCV003892260] | ChrX:154466685 [GRCh38] ChrX:153695028 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2448G>A (p.Leu816=) | single nucleotide variant | PLXNA3-related condition [RCV003969418] | ChrX:154465763 [GRCh38] ChrX:153694106 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.391C>T (p.Leu131=) | single nucleotide variant | PLXNA3-related condition [RCV003976664] | ChrX:154460574 [GRCh38] ChrX:153688914 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3906C>T (p.Tyr1302=) | single nucleotide variant | PLXNA3-related condition [RCV003969683] | ChrX:154468167 [GRCh38] ChrX:153696510 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3633G>A (p.Ser1211=) | single nucleotide variant | PLXNA3-related condition [RCV003954872] | ChrX:154467814 [GRCh38] ChrX:153696157 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1767C>T (p.Ser589=) | single nucleotide variant | PLXNA3-related condition [RCV003899486] | ChrX:154464252 [GRCh38] ChrX:153692595 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3072C>T (p.Thr1024=) | single nucleotide variant | PLXNA3-related condition [RCV003949557] | ChrX:154466758 [GRCh38] ChrX:153695101 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5028G>A (p.Val1676=) | single nucleotide variant | PLXNA3-related condition [RCV003913864] | ChrX:154470483 [GRCh38] ChrX:153698826 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.758C>T (p.Ala253Val) | single nucleotide variant | PLXNA3-related condition [RCV003966885] | ChrX:154461262 [GRCh38] ChrX:153689602 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.272C>T (p.Ala91Val) | single nucleotide variant | PLXNA3-related condition [RCV003901483] | ChrX:154460455 [GRCh38] ChrX:153688795 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1662T>C (p.Pro554=) | single nucleotide variant | PLXNA3-related condition [RCV003896424] | ChrX:154464065 [GRCh38] ChrX:153692408 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2085C>T (p.Pro695=) | single nucleotide variant | PLXNA3-related condition [RCV003896440] | ChrX:154465059 [GRCh38] ChrX:153693402 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3232C>T (p.Leu1078=) | single nucleotide variant | PLXNA3-related condition [RCV003952302] | ChrX:154467262 [GRCh38] ChrX:153695605 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3420G>A (p.Pro1140=) | single nucleotide variant | PLXNA3-related condition [RCV003903825] | ChrX:154467450 [GRCh38] ChrX:153695793 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3712G>A (p.Val1238Met) | single nucleotide variant | PLXNA3-related condition [RCV003904153] | ChrX:154467893 [GRCh38] ChrX:153696236 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1327G>A (p.Asp443Asn) | single nucleotide variant | PLXNA3-related condition [RCV003947005] | ChrX:154463400 [GRCh38] ChrX:153691743 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4368G>A (p.Thr1456=) | single nucleotide variant | PLXNA3-related condition [RCV003911806] | ChrX:154468903 [GRCh38] ChrX:153697246 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1518G>A (p.Pro506=) | single nucleotide variant | PLXNA3-related condition [RCV003919819] | ChrX:154463661 [GRCh38] ChrX:153692004 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1920C>T (p.Val640=) | single nucleotide variant | PLXNA3-related condition [RCV003969792] | ChrX:154464493 [GRCh38] ChrX:153692836 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2331C>T (p.Pro777=) | single nucleotide variant | PLXNA3-related condition [RCV003899124] | ChrX:154465510 [GRCh38] ChrX:153693853 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2620C>T (p.Leu874=) | single nucleotide variant | PLXNA3-related condition [RCV003906804] | ChrX:154466022 [GRCh38] ChrX:153694365 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1098C>T (p.Pro366=) | single nucleotide variant | PLXNA3-related condition [RCV003907080] | ChrX:154461602 [GRCh38] ChrX:153689942 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2678+8C>T | single nucleotide variant | PLXNA3-related condition [RCV003899283] | ChrX:154466088 [GRCh38] ChrX:153694431 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5232G>A (p.Thr1744=) | single nucleotide variant | PLXNA3-related condition [RCV003893650] | ChrX:154471180 [GRCh38] ChrX:153699523 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4350C>A (p.Gly1450=) | single nucleotide variant | PLXNA3-related condition [RCV003894022] | ChrX:154468885 [GRCh38] ChrX:153697228 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.319C>T (p.Arg107Cys) | single nucleotide variant | PLXNA3-related condition [RCV003949294] | ChrX:154460502 [GRCh38] ChrX:153688842 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.3321C>T (p.His1107=) | single nucleotide variant | PLXNA3-related condition [RCV003913852] | ChrX:154467351 [GRCh38] ChrX:153695694 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1845G>T (p.Val615=) | single nucleotide variant | PLXNA3-related condition [RCV003961490] | ChrX:154464418 [GRCh38] ChrX:153692761 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4795+10C>T | single nucleotide variant | PLXNA3-related condition [RCV003894241] | ChrX:154469794 [GRCh38] ChrX:153698137 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1695G>A (p.Val565=) | single nucleotide variant | PLXNA3-related condition [RCV003913891] | ChrX:154464180 [GRCh38] ChrX:153692523 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2145C>T (p.Gly715=) | single nucleotide variant | PLXNA3-related condition [RCV003983468] | ChrX:154465119 [GRCh38] ChrX:153693462 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5293C>T (p.Arg1765Cys) | single nucleotide variant | PLXNA3-related condition [RCV003921668] | ChrX:154471241 [GRCh38] ChrX:153699584 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.735C>G (p.Thr245=) | single nucleotide variant | PLXNA3-related condition [RCV003983555] | ChrX:154461239 [GRCh38] ChrX:153689579 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1692C>T (p.Asn564=) | single nucleotide variant | PLXNA3-related condition [RCV003961830] | ChrX:154464177 [GRCh38] ChrX:153692520 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4020C>T (p.Arg1340=) | single nucleotide variant | PLXNA3-related condition [RCV003967155] | ChrX:154468359 [GRCh38] ChrX:153696702 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5331C>T (p.Tyr1777=) | single nucleotide variant | PLXNA3-related condition [RCV003962122] | ChrX:154471279 [GRCh38] ChrX:153699622 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2768G>A (p.Arg923His) | single nucleotide variant | PLXNA3-related condition [RCV003951882] | ChrX:154466239 [GRCh38] ChrX:153694582 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.444C>T (p.Pro148=) | single nucleotide variant | PLXNA3-related condition [RCV003951975] | ChrX:154460627 [GRCh38] ChrX:153688967 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2678+9G>A | single nucleotide variant | PLXNA3-related condition [RCV003909468] | ChrX:154466089 [GRCh38] ChrX:153694432 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4470C>T (p.Ser1490=) | single nucleotide variant | PLXNA3-related condition [RCV003958913] | ChrX:154469091 [GRCh38] ChrX:153697434 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2171G>A (p.Arg724Gln) | single nucleotide variant | PLXNA3-related condition [RCV003896512] | ChrX:154465145 [GRCh38] ChrX:153693488 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4047G>A (p.Thr1349=) | single nucleotide variant | PLXNA3-related condition [RCV003984771] | ChrX:154468386 [GRCh38] ChrX:153696729 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1548-6G>A | single nucleotide variant | PLXNA3-related condition [RCV003904353] | ChrX:154463945 [GRCh38] ChrX:153692288 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.657C>T (p.Tyr219=) | single nucleotide variant | PLXNA3-related condition [RCV003904421] | ChrX:154461161 [GRCh38] ChrX:153689501 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5423C>T (p.Ala1808Val) | single nucleotide variant | PLXNA3-related condition [RCV003904541] | ChrX:154471541 [GRCh38] ChrX:153699884 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.840C>T (p.Ile280=) | single nucleotide variant | PLXNA3-related condition [RCV003959453] | ChrX:154461344 [GRCh38] ChrX:153689684 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4083C>T (p.Arg1361=) | single nucleotide variant | PLXNA3-related condition [RCV003959476] | ChrX:154468422 [GRCh38] ChrX:153696765 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.18C>T (p.Leu6=) | single nucleotide variant | PLXNA3-related condition [RCV003946779] | ChrX:154460201 [GRCh38] ChrX:153688541 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3964-7C>T | single nucleotide variant | PLXNA3-related condition [RCV003959683] | ChrX:154468296 [GRCh38] ChrX:153696639 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4723T>C (p.Leu1575=) | single nucleotide variant | PLXNA3-related condition [RCV003901978] | ChrX:154469712 [GRCh38] ChrX:153698055 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.78C>T (p.Phe26=) | single nucleotide variant | PLXNA3-related condition [RCV003947228] | ChrX:154460261 [GRCh38] ChrX:153688601 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.222C>T (p.Asn74=) | single nucleotide variant | PLXNA3-related condition [RCV003947322] | ChrX:154460405 [GRCh38] ChrX:153688745 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2142G>A (p.Ser714=) | single nucleotide variant | PLXNA3-related condition [RCV003981850] | ChrX:154465116 [GRCh38] ChrX:153693459 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.927C>T (p.Gly309=) | single nucleotide variant | PLXNA3-related condition [RCV003927390] | ChrX:154461431 [GRCh38] ChrX:153689771 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2268T>G (p.His756Gln) | single nucleotide variant | PLXNA3-related condition [RCV003966922] | ChrX:154465447 [GRCh38] ChrX:153693790 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2800-4G>A | single nucleotide variant | PLXNA3-related condition [RCV003967013] | ChrX:154466372 [GRCh38] ChrX:153694715 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.801G>A (p.Ala267=) | single nucleotide variant | PLXNA3-related condition [RCV003967073] | ChrX:154461305 [GRCh38] ChrX:153689645 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2808G>A (p.Thr936=) | single nucleotide variant | PLXNA3-related condition [RCV003969562] | ChrX:154466384 [GRCh38] ChrX:153694727 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.276C>T (p.Pro92=) | single nucleotide variant | PLXNA3-related condition [RCV003924541] | ChrX:154460459 [GRCh38] ChrX:153688799 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1254C>T (p.Ala418=) | single nucleotide variant | PLXNA3-related condition [RCV003931481] | ChrX:154462247 [GRCh38] ChrX:153690587 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1134C>T (p.Thr378=) | single nucleotide variant | PLXNA3-related condition [RCV003969853] | ChrX:154461638 [GRCh38] ChrX:153689978 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.435C>T (p.Ala145=) | single nucleotide variant | PLXNA3-related condition [RCV003899290] | ChrX:154460618 [GRCh38] ChrX:153688958 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3910G>A (p.Val1304Met) | single nucleotide variant | PLXNA3-related condition [RCV003964105] | ChrX:154468171 [GRCh38] ChrX:153696514 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4812G>A (p.Thr1604=) | single nucleotide variant | PLXNA3-related condition [RCV003961673] | ChrX:154469993 [GRCh38] ChrX:153698336 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.49dup (p.Ala17fs) | duplication | PLXNA3-related condition [RCV003961745] | ChrX:154460224..154460225 [GRCh38] ChrX:153688564..153688565 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1547+9G>A | single nucleotide variant | PLXNA3-related condition [RCV003899646] | ChrX:154463699 [GRCh38] ChrX:153692042 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1056C>T (p.Arg352=) | single nucleotide variant | PLXNA3-related condition [RCV003899656] | ChrX:154461560 [GRCh38] ChrX:153689900 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1929-3dup | duplication | PLXNA3-related condition [RCV003899842] | ChrX:154464744..154464745 [GRCh38] ChrX:153693087..153693088 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1634G>A (p.Arg545Gln) | single nucleotide variant | PLXNA3-related condition [RCV003949217] | ChrX:154464037 [GRCh38] ChrX:153692380 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.190C>T (p.Arg64Trp) | single nucleotide variant | PLXNA3-related condition [RCV003956840] | ChrX:154460373 [GRCh38] ChrX:153688713 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.315G>A (p.Ala105=) | single nucleotide variant | PLXNA3-related condition [RCV003929484] | ChrX:154460498 [GRCh38] ChrX:153688838 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.594C>T (p.Leu198=) | single nucleotide variant | PLXNA3-related condition [RCV003951918] | ChrX:154460777 [GRCh38] ChrX:153689117 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5565G>A (p.Lys1855=) | single nucleotide variant | PLXNA3-related condition [RCV003966868] | ChrX:154472634 [GRCh38] ChrX:153700977 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5521-7C>T | single nucleotide variant | PLXNA3-related condition [RCV003921432] | ChrX:154472583 [GRCh38] ChrX:153700926 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3840G>A (p.Thr1280=) | single nucleotide variant | PLXNA3-related condition [RCV003921436] | ChrX:154468101 [GRCh38] ChrX:153696444 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4612A>G (p.Met1538Val) | single nucleotide variant | PLXNA3-related condition [RCV003896770] | ChrX:154469396 [GRCh38] ChrX:153697739 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.697G>A (p.Ala233Thr) | single nucleotide variant | PLXNA3-related condition [RCV003896811] | ChrX:154461201 [GRCh38] ChrX:153689541 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1167G>A (p.Leu389=) | single nucleotide variant | PLXNA3-related condition [RCV003931957] | ChrX:154462160 [GRCh38] ChrX:153690500 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4089C>G (p.Thr1363=) | single nucleotide variant | PLXNA3-related condition [RCV003894652] | ChrX:154468428 [GRCh38] ChrX:153696771 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.336C>T (p.Cys112=) | single nucleotide variant | PLXNA3-related condition [RCV003913941] | ChrX:154460519 [GRCh38] ChrX:153688859 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3246C>T (p.Pro1082=) | single nucleotide variant | PLXNA3-related condition [RCV003913942] | ChrX:154467276 [GRCh38] ChrX:153695619 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2901A>G (p.Thr967=) | single nucleotide variant | PLXNA3-related condition [RCV003979119] | ChrX:154466477 [GRCh38] ChrX:153694820 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.549C>A (p.Ser183=) | single nucleotide variant | PLXNA3-related condition [RCV003983517] | ChrX:154460732 [GRCh38] ChrX:153689072 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.210C>T (p.Pro70=) | single nucleotide variant | PLXNA3-related condition [RCV003944310] | ChrX:154460393 [GRCh38] ChrX:153688733 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3468C>T (p.Ala1156=) | single nucleotide variant | PLXNA3-related condition [RCV003957382] | ChrX:154467571 [GRCh38] ChrX:153695914 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3821-8C>T | single nucleotide variant | PLXNA3-related condition [RCV003983616] | ChrX:154468074 [GRCh38] ChrX:153696417 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4123C>A (p.Arg1375=) | single nucleotide variant | PLXNA3-related condition [RCV003929790] | ChrX:154468462 [GRCh38] ChrX:153696805 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1746C>T (p.Asn582=) | single nucleotide variant | PLXNA3-related condition [RCV003904109] | ChrX:154464231 [GRCh38] ChrX:153692574 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2806A>G (p.Thr936Ala) | single nucleotide variant | PLXNA3-related condition [RCV003967082] | ChrX:154466382 [GRCh38] ChrX:153694725 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.42G>C (p.Val14=) | single nucleotide variant | PLXNA3-related condition [RCV003901737] | ChrX:154460225 [GRCh38] ChrX:153688565 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.237G>A (p.Pro79=) | single nucleotide variant | PLXNA3-related condition [RCV003902189] | ChrX:154460420 [GRCh38] ChrX:153688760 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.312T>C (p.Tyr104=) | single nucleotide variant | PLXNA3-related condition [RCV003951473] | ChrX:154460495 [GRCh38] ChrX:153688835 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.576C>T (p.Ser192=) | single nucleotide variant | PLXNA3-related condition [RCV003922071] | ChrX:154460759 [GRCh38] ChrX:153689099 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1314G>C (p.Lys438Asn) | single nucleotide variant | PLXNA3-related condition [RCV003969062] | ChrX:154462307 [GRCh38] ChrX:153690647 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4557G>A (p.Pro1519=) | single nucleotide variant | PLXNA3-related condition [RCV003904316] | ChrX:154469178 [GRCh38] ChrX:153697521 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1752G>A (p.Ala584=) | single nucleotide variant | PLXNA3-related condition [RCV003904539] | ChrX:154464237 [GRCh38] ChrX:153692580 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.-5C>T | single nucleotide variant | PLXNA3-related condition [RCV003981291] | ChrX:154460179 [GRCh38] ChrX:153688519 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4023G>A (p.Ala1341=) | single nucleotide variant | PLXNA3-related condition [RCV003984754] | ChrX:154468362 [GRCh38] ChrX:153696705 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2598C>T (p.Gly866=) | single nucleotide variant | PLXNA3-related condition [RCV003902224] | ChrX:154466000 [GRCh38] ChrX:153694343 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5607C>T (p.Ser1869=) | single nucleotide variant | PLXNA3-related condition [RCV003967156] | ChrX:154472676 [GRCh38] ChrX:153701019 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.578C>T (p.Ala193Val) | single nucleotide variant | PLXNA3-related condition [RCV003947069] | ChrX:154460761 [GRCh38] ChrX:153689101 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.949C>G (p.Leu317Val) | single nucleotide variant | PLXNA3-related condition [RCV003911590] | ChrX:154461453 [GRCh38] ChrX:153689793 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.858C>T (p.Gly286=) | single nucleotide variant | PLXNA3-related condition [RCV003947231] | ChrX:154461362 [GRCh38] ChrX:153689702 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4893G>A (p.Leu1631=) | single nucleotide variant | PLXNA3-related condition [RCV003969589] | ChrX:154470074 [GRCh38] ChrX:153698417 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.958A>G (p.Ile320Val) | single nucleotide variant | PLXNA3-related condition [RCV003976518] | ChrX:154461462 [GRCh38] ChrX:153689802 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.696C>T (p.Ser232=) | single nucleotide variant | PLXNA3-related condition [RCV003959505] | ChrX:154461200 [GRCh38] ChrX:153689540 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1234G>A (p.Asp412Asn) | single nucleotide variant | PLXNA3-related condition [RCV003964169] | ChrX:154462227 [GRCh38] ChrX:153690567 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2720C>T (p.Pro907Leu) | single nucleotide variant | PLXNA3-related condition [RCV003969529] | ChrX:154466191 [GRCh38] ChrX:153694534 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.39C>T (p.Ala13=) | single nucleotide variant | PLXNA3-related condition [RCV003969574] | ChrX:154460222 [GRCh38] ChrX:153688562 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1302C>T (p.Ser434=) | single nucleotide variant | PLXNA3-related condition [RCV003969661] | ChrX:154462295 [GRCh38] ChrX:153690635 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.295C>G (p.Leu99Val) | single nucleotide variant | PLXNA3-related condition [RCV003896539] | ChrX:154460478 [GRCh38] ChrX:153688818 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.684C>T (p.Tyr228=) | single nucleotide variant | PLXNA3-related condition [RCV003911918] | ChrX:154461188 [GRCh38] ChrX:153689528 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3914G>A (p.Arg1305His) | single nucleotide variant | PLXNA3-related condition [RCV003899121] | ChrX:154468175 [GRCh38] ChrX:153696518 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.4173C>T (p.Ile1391=) | single nucleotide variant | PLXNA3-related condition [RCV003954900] | ChrX:154468512 [GRCh38] ChrX:153696855 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2181G>A (p.Gly727=) | single nucleotide variant | PLXNA3-related condition [RCV003899413] | ChrX:154465155 [GRCh38] ChrX:153693498 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3479G>A (p.Arg1160His) | single nucleotide variant | PLXNA3-related condition [RCV003899464] | ChrX:154467582 [GRCh38] ChrX:153695925 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2580C>T (p.Ile860=) | single nucleotide variant | PLXNA3-related condition [RCV003952183] | ChrX:154465982 [GRCh38] ChrX:153694325 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.600C>T (p.Tyr200=) | single nucleotide variant | PLXNA3-related condition [RCV003896712] | ChrX:154461104 [GRCh38] ChrX:153689444 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5121C>T (p.Ser1707=) | single nucleotide variant | PLXNA3-related condition [RCV003959237] | ChrX:154470576 [GRCh38] ChrX:153698919 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3216C>T (p.Ile1072=) | single nucleotide variant | PLXNA3-related condition [RCV003899214] | ChrX:154467246 [GRCh38] ChrX:153695589 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4687G>A (p.Ala1563Thr) | single nucleotide variant | PLXNA3-related condition [RCV003899344] | ChrX:154469471 [GRCh38] ChrX:153697814 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3323T>C (p.Val1108Ala) | single nucleotide variant | not provided [RCV003887407] | ChrX:154467353 [GRCh38] ChrX:153695696 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 | copy number gain | not provided [RCV003885530] | ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28 |
pathogenic |
NM_017514.5(PLXNA3):c.3415A>C (p.Lys1139Gln) | single nucleotide variant | PLXNA3-related condition [RCV003904362] | ChrX:154467445 [GRCh38] ChrX:153695788 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1493C>T (p.Ala498Val) | single nucleotide variant | PLXNA3-related condition [RCV003904396] | ChrX:154463636 [GRCh38] ChrX:153691979 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3183C>T (p.Arg1061=) | single nucleotide variant | PLXNA3-related condition [RCV003923821] | ChrX:154467132 [GRCh38] ChrX:153695475 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.705C>T (p.Phe235=) | single nucleotide variant | PLXNA3-related condition [RCV003959371] | ChrX:154461209 [GRCh38] ChrX:153689549 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2937-4G>A | single nucleotide variant | PLXNA3-related condition [RCV003893704] | ChrX:154466619 [GRCh38] ChrX:153694962 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.690C>T (p.Phe230=) | single nucleotide variant | PLXNA3-related condition [RCV003934304] | ChrX:154461194 [GRCh38] ChrX:153689534 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.627C>A (p.Ile209=) | single nucleotide variant | PLXNA3-related condition [RCV003896941] | ChrX:154461131 [GRCh38] ChrX:153689471 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2529G>A (p.Thr843=) | single nucleotide variant | PLXNA3-related condition [RCV003917298] | ChrX:154465844 [GRCh38] ChrX:153694187 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.3975C>T (p.Asn1325=) | single nucleotide variant | PLXNA3-related condition [RCV003904320] | ChrX:154468314 [GRCh38] ChrX:153696657 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1678G>A (p.Val560Ile) | single nucleotide variant | PLXNA3-related condition [RCV003904552] | ChrX:154464163 [GRCh38] ChrX:153692506 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1838G>A (p.Arg613His) | single nucleotide variant | PLXNA3-related condition [RCV003904655] | ChrX:154464411 [GRCh38] ChrX:153692754 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1249G>A (p.Val417Met) | single nucleotide variant | PLXNA3-related condition [RCV003942251] | ChrX:154462242 [GRCh38] ChrX:153690582 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2830C>T (p.Arg944Cys) | single nucleotide variant | PLXNA3-related condition [RCV003949453] | ChrX:154466406 [GRCh38] ChrX:153694749 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1956C>T (p.Tyr652=) | single nucleotide variant | PLXNA3-related condition [RCV003949492] | ChrX:154464781 [GRCh38] ChrX:153693124 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1366G>A (p.Val456Met) | single nucleotide variant | PLXNA3-related condition [RCV003893866] | ChrX:154463439 [GRCh38] ChrX:153691782 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2772G>A (p.Thr924=) | single nucleotide variant | not provided [RCV003884082] | ChrX:154466243 [GRCh38] ChrX:153694586 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.720G>A (p.Thr240=) | single nucleotide variant | PLXNA3-related condition [RCV003914056] | ChrX:154461224 [GRCh38] ChrX:153689564 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4287+4C>T | single nucleotide variant | PLXNA3-related condition [RCV003904613] | ChrX:154468733 [GRCh38] ChrX:153697076 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1020C>T (p.Phe340=) | single nucleotide variant | PLXNA3-related condition [RCV003981619] | ChrX:154461524 [GRCh38] ChrX:153689864 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3999C>T (p.Phe1333=) | single nucleotide variant | PLXNA3-related condition [RCV003943932] | ChrX:154468338 [GRCh38] ChrX:153696681 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.645G>A (p.Thr215=) | single nucleotide variant | PLXNA3-related condition [RCV003971892] | ChrX:154461149 [GRCh38] ChrX:153689489 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.213C>T (p.Val71=) | single nucleotide variant | PLXNA3-related condition [RCV003914050] | ChrX:154460396 [GRCh38] ChrX:153688736 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4185C>T (p.Leu1395=) | single nucleotide variant | PLXNA3-related condition [RCV003894569] | ChrX:154468524 [GRCh38] ChrX:153696867 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3279G>A (p.Ala1093=) | single nucleotide variant | PLXNA3-related condition [RCV003894662] | ChrX:154467309 [GRCh38] ChrX:153695652 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3039C>T (p.Pro1013=) | single nucleotide variant | PLXNA3-related condition [RCV003972204] | ChrX:154466725 [GRCh38] ChrX:153695068 [GRCh37] ChrX:Xq28 |
benign |
NM_017514.5(PLXNA3):c.714C>T (p.Phe238=) | single nucleotide variant | PLXNA3-related condition [RCV003946924] | ChrX:154461218 [GRCh38] ChrX:153689558 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.187C>G (p.Leu63Val) | single nucleotide variant | PLXNA3-related condition [RCV003947059] | ChrX:154460370 [GRCh38] ChrX:153688710 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2937-5T>C | single nucleotide variant | not provided [RCV003884894] | ChrX:154466618 [GRCh38] ChrX:153694961 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5451C>T (p.His1817=) | single nucleotide variant | PLXNA3-related condition [RCV003944017] | ChrX:154471569 [GRCh38] ChrX:153699912 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2044-8C>T | single nucleotide variant | PLXNA3-related condition [RCV003966949] | ChrX:154465010 [GRCh38] ChrX:153693353 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2682C>T (p.Ile894=) | single nucleotide variant | PLXNA3-related condition [RCV003901766] | ChrX:154466153 [GRCh38] ChrX:153694496 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1500C>T (p.Cys500=) | single nucleotide variant | PLXNA3-related condition [RCV003901804] | ChrX:154463643 [GRCh38] ChrX:153691986 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.729G>A (p.Leu243=) | single nucleotide variant | PLXNA3-related condition [RCV003969456] | ChrX:154461233 [GRCh38] ChrX:153689573 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2721G>A (p.Pro907=) | single nucleotide variant | PLXNA3-related condition [RCV003969412] | ChrX:154466192 [GRCh38] ChrX:153694535 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3966G>A (p.Thr1322=) | single nucleotide variant | PLXNA3-related condition [RCV003969560] | ChrX:154468305 [GRCh38] ChrX:153696648 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2217C>T (p.Ser739=) | single nucleotide variant | PLXNA3-related condition [RCV003977094] | ChrX:154465191 [GRCh38] ChrX:153693534 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3964-5del | deletion | PLXNA3-related condition [RCV003947409] | ChrX:154468295 [GRCh38] ChrX:153696638 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4796-8T>C | single nucleotide variant | PLXNA3-related condition [RCV003898922] | ChrX:154469969 [GRCh38] ChrX:153698312 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2522G>A (p.Arg841His) | single nucleotide variant | PLXNA3-related condition [RCV003969726] | ChrX:154465837 [GRCh38] ChrX:153694180 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2342-10G>C | single nucleotide variant | PLXNA3-related condition [RCV003899060] | ChrX:154465647 [GRCh38] ChrX:153693990 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2164G>A (p.Val722Met) | single nucleotide variant | PLXNA3-related condition [RCV003899250] | ChrX:154465138 [GRCh38] ChrX:153693481 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2724G>A (p.Pro908=) | single nucleotide variant | PLXNA3-related condition [RCV003912329] | ChrX:154466195 [GRCh38] ChrX:153694538 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4953C>T (p.Ser1651=) | single nucleotide variant | PLXNA3-related condition [RCV003899756] | ChrX:154470134 [GRCh38] ChrX:153698477 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3675G>A (p.Ala1225=) | single nucleotide variant | PLXNA3-related condition [RCV003893755] | ChrX:154467856 [GRCh38] ChrX:153696199 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.3080G>T (p.Arg1027Leu) | single nucleotide variant | PLXNA3-related condition [RCV003893874] | ChrX:154466766 [GRCh38] ChrX:153695109 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.513C>T (p.Val171=) | single nucleotide variant | PLXNA3-related condition [RCV003899847] | ChrX:154460696 [GRCh38] ChrX:153689036 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.2778G>A (p.Ser926=) | single nucleotide variant | PLXNA3-related condition [RCV003893930] | ChrX:154466249 [GRCh38] ChrX:153694592 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5202C>T (p.Phe1734=) | single nucleotide variant | PLXNA3-related condition [RCV003921443] | ChrX:154471150 [GRCh38] ChrX:153699493 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4989C>T (p.Gly1663=) | single nucleotide variant | PLXNA3-related condition [RCV003957034] | ChrX:154470444 [GRCh38] ChrX:153698787 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1656G>A (p.Thr552=) | single nucleotide variant | PLXNA3-related condition [RCV003957104] | ChrX:154464059 [GRCh38] ChrX:153692402 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1461G>A (p.Pro487=) | single nucleotide variant | PLXNA3-related condition [RCV003913829] | ChrX:154463604 [GRCh38] ChrX:153691947 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1791C>T (p.Pro597=) | single nucleotide variant | PLXNA3-related condition [RCV003913940] | ChrX:154464276 [GRCh38] ChrX:153692619 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.-4G>A | single nucleotide variant | PLXNA3-related condition [RCV003921530] | ChrX:154460180 [GRCh38] ChrX:153688520 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1934T>C (p.Met645Thr) | single nucleotide variant | PLXNA3-related condition [RCV003971951] | ChrX:154464759 [GRCh38] ChrX:153693102 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.459T>C (p.Gly153=) | single nucleotide variant | PLXNA3-related condition [RCV003957336] | ChrX:154460642 [GRCh38] ChrX:153688982 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.798C>T (p.Cys266=) | single nucleotide variant | PLXNA3-related condition [RCV003901811] | ChrX:154461302 [GRCh38] ChrX:153689642 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5373T>C (p.Tyr1791=) | single nucleotide variant | PLXNA3-related condition [RCV003944500] | ChrX:154471491 [GRCh38] ChrX:153699834 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1887C>T (p.Ala629=) | single nucleotide variant | PLXNA3-related condition [RCV003902006] | ChrX:154464460 [GRCh38] ChrX:153692803 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.5616A>G (p.Ter1872=) | single nucleotide variant | PLXNA3-related condition [RCV003902136] | ChrX:154472685 [GRCh38] ChrX:153701028 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4707C>T (p.Asp1569=) | single nucleotide variant | PLXNA3-related condition [RCV003967219] | ChrX:154469696 [GRCh38] ChrX:153698039 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.1295C>T (p.Thr432Met) | single nucleotide variant | PLXNA3-related condition [RCV003974198] | ChrX:154462288 [GRCh38] ChrX:153690628 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.2760C>T (p.Ala920=) | single nucleotide variant | PLXNA3-related condition [RCV003897089] | ChrX:154466231 [GRCh38] ChrX:153694574 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.963C>T (p.Phe321=) | single nucleotide variant | PLXNA3-related condition [RCV003897136] | ChrX:154461467 [GRCh38] ChrX:153689807 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4777C>T (p.Arg1593Cys) | single nucleotide variant | PLXNA3-related condition [RCV003897142] | ChrX:154469766 [GRCh38] ChrX:153698109 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_017514.5(PLXNA3):c.1734G>A (p.Ala578=) | single nucleotide variant | PLXNA3-related condition [RCV003897407] | ChrX:154464219 [GRCh38] ChrX:153692562 [GRCh37] ChrX:Xq28 |
likely benign |
NM_017514.5(PLXNA3):c.4794C>T (p.Tyr1598=) | single nucleotide variant | PLXNA3-related condition [RCV003954823] | ChrX:154469783 [GRCh38] ChrX:153698126 [GRCh37] ChrX:Xq28 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
WI-13459 |
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ECD00164 |
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ECD00210 |
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ECD00359 |
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ECD00412 |
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ECD00441 |
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ECD00573 |
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ECD00699 |
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ECD00726 |
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ECD00841 |
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ECD01088 |
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ECD01110 |
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ECD01231 |
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ECD01433 |
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ECD02155 |
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ECD10270 |
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ECD11845 |
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REN89648 |
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REN89649 |
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REN89650 |
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REN89651 |
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REN89652 |
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REN89653 |
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REN89654 |
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REN89655 |
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REN89656 |
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REN89657 |
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REN89658 |
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REN89659 |
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REN89660 |
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REN89661 |
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REN89662 |
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REN89663 |
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REN89664 |
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REN89665 |
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REN89666 |
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REN89667 |
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REN89668 |
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REN89669 |
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REN89670 |
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REN89671 |
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REN89672 |
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REN89673 |
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REN89674 |
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REN89675 |
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REN89676 |
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REN89677 |
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REN89678 |
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REN89679 |
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REN89680 |
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REN89681 |
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REN89682 |
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REN89683 |
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REN89684 |
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REN89685 |
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REN89686 |
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REN89687 |
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REN89688 |
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REN89689 |
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REN89690 |
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REN89691 |
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REN89692 |
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REN89693 |
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REN89694 |
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REN89695 |
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REN89696 |
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REN89697 |
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REN89698 |
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REN89699 |
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REN89700 |
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REN89701 |
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REN89702 |
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REN89703 |
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REN89704 |
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REN89705 |
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REN89706 |
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REN89707 |
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REN89708 |
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REN89709 |
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REN89710 |
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REN89711 |
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REN89712 |
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REN89713 |
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REN89714 |
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REN89715 |
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REN89716 |
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REN89717 |
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REN89718 |
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REN89719 |
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stSG604067 |
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stSG604068 |
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stSG604071 |
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stSG604073 |
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stSG604074 |
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stSG604075 |
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stSG604076 |
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stSG604077 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 1440 | 1382 | 1186 | 207 | 620 | 64 | 2863 | 512 | 1759 | 188 | 1173 | 1502 | 155 | 828 | 1783 | 4 | ||
Low | 997 | 1542 | 534 | 411 | 1259 | 395 | 1454 | 1646 | 1974 | 223 | 287 | 110 | 20 | 1 | 376 | 970 | 2 | 2 |
Below cutoff | 2 | 67 | 6 | 6 | 72 | 6 | 40 | 39 | 1 | 8 | 1 | 35 |
RefSeq Acc Id: | ENST00000369682 ⟹ ENSP00000358696 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000467463 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000478236 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000480645 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000482598 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000491066 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000493546 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000495040 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000497802 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_017514 ⟹ NP_059984 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047442247 ⟹ XP_047298203 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054327369 ⟹ XP_054183344 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_007068193 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485493 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_008485494 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_430556 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_059984 | (Get FASTA) | NCBI Sequence Viewer |
XP_047298203 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054183344 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | CAA61132 | (Get FASTA) | NCBI Sequence Viewer |
CCQ43552 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72702 | (Get FASTA) | NCBI Sequence Viewer | |
EAW72703 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000358696 | ||
ENSP00000358696.3 | |||
GenBank Protein | P51805 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_059984 ⟸ NM_017514 |
- Peptide Label: | precursor |
- UniProtKB: | Q5HY36 (UniProtKB/Swiss-Prot), P51805 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000358696 ⟸ ENST00000369682 |
RefSeq Acc Id: | XP_047298203 ⟸ XM_047442247 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054183344 ⟸ XM_054327369 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P51805-F1-model_v2 | AlphaFold | P51805 | 1-1871 | view protein structure |
RGD ID: | 6809132 | ||||||||
Promoter ID: | HG_KWN:68659 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000081634, OTTHUMT00000286454 | ||||||||
Position: |
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RGD ID: | 6809133 | ||||||||
Promoter ID: | HG_KWN:68660 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, K562 | ||||||||
Transcripts: | OTTHUMT00000316580 | ||||||||
Position: |
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RGD ID: | 13628630 | ||||||||
Promoter ID: | EPDNEW_H29553 | ||||||||
Type: | initiation region | ||||||||
Name: | PLXNA3_1 | ||||||||
Description: | plexin A3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:9101 | AgrOrtholog |
COSMIC | PLXNA3 | COSMIC |
Ensembl Genes | ENSG00000130827 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000369682 | ENTREZGENE |
ENST00000369682.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.130.10.10 | UniProtKB/Swiss-Prot |
2.60.40.10 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000130827 | GTEx |
HGNC ID | HGNC:9101 | ENTREZGENE |
Human Proteome Map | PLXNA3 | Human Proteome Map |
InterPro | Ig-like_fold | UniProtKB/Swiss-Prot |
Ig_E-set | UniProtKB/Swiss-Prot | |
IPT_dom | UniProtKB/Swiss-Prot | |
Plexin | UniProtKB/Swiss-Prot | |
Plexin_cytoplasmic_RasGAP_dom | UniProtKB/Swiss-Prot | |
Plexin_RBD | UniProtKB/Swiss-Prot | |
Plexin_repeat | UniProtKB/Swiss-Prot | |
PSI | UniProtKB/Swiss-Prot | |
Rho_GTPase_activation_prot | UniProtKB/Swiss-Prot | |
Semap_dom | UniProtKB/Swiss-Prot | |
Semap_dom_sf | UniProtKB/Swiss-Prot | |
TIG1_plexin | UniProtKB/Swiss-Prot | |
TIG2_plexin | UniProtKB/Swiss-Prot | |
WD40/YVTN_repeat-like_dom_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:55558 | UniProtKB/Swiss-Prot |
NCBI Gene | 55558 | ENTREZGENE |
OMIM | 300022 | OMIM |
PANTHER | PLEXIN-A3 | UniProtKB/Swiss-Prot |
PTHR22625 | UniProtKB/Swiss-Prot | |
Pfam | Plexin_cytopl | UniProtKB/Swiss-Prot |
Plexin_RBD | UniProtKB/Swiss-Prot | |
PSI | UniProtKB/Swiss-Prot | |
Sema | UniProtKB/Swiss-Prot | |
TIG | UniProtKB/Swiss-Prot | |
TIG_2 | UniProtKB/Swiss-Prot | |
TIG_plexin | UniProtKB/Swiss-Prot | |
PharmGKB | PA33427 | PharmGKB |
PROSITE | SEMA | UniProtKB/Swiss-Prot |
SMART | IPT | UniProtKB/Swiss-Prot |
PSI | UniProtKB/Swiss-Prot | |
Sema | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | Plexin repeat | UniProtKB/Swiss-Prot |
SSF101912 | UniProtKB/Swiss-Prot | |
SSF48350 | UniProtKB/Swiss-Prot | |
SSF81296 | UniProtKB/Swiss-Prot | |
UniProt | L8ECH0_HUMAN | UniProtKB/TrEMBL |
P51805 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Q5HY36 | ENTREZGENE | |
UniProt Secondary | Q5HY36 | UniProtKB/Swiss-Prot |