Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
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 |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:9417904 | PMID:12477932 | PMID:16189514 | PMID:17207965 | PMID:19060904 | PMID:19615732 | PMID:20301769 | PMID:20562859 | PMID:21790011 | PMID:21873635 | PMID:22810586 | PMID:24942156 |
PMID:25416956 | PMID:26344197 | PMID:26760575 | PMID:30201955 | PMID:32296183 | PMID:33226137 | PMID:33961781 | PMID:34373451 | PMID:35271311 | PMID:35944360 |
TSR2 (Homo sapiens - human) |
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Tsr2 (Mus musculus - house mouse) |
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Tsr2 (Rattus norvegicus - Norway rat) |
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Tsr2 (Chinchilla lanigera - long-tailed chinchilla) |
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TSR2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TSR2 (Canis lupus familiaris - dog) |
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Tsr2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TSR2 (Sus scrofa - pig) |
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TSR2 (Chlorocebus sabaeus - green monkey) |
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Tsr2 (Heterocephalus glaber - naked mole-rat) |
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Variants in TSR2
96 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: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:3092486-155699618)x2 | copy number gain | See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)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 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 Xp11.22-11.21(chrX:51664377-58055036)x3 | copy number gain | See cases [RCV000052392] | ChrX:51664377..58055036 [GRCh38] ChrX:51407309..58081470 [GRCh37] ChrX:51424049..58098195 [NCBI36] ChrX:Xp11.22-11.21 |
pathogenic |
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 | copy number gain | See cases [RCV000052393] | ChrX:52363196..58455952 [GRCh38] ChrX:52175778..58482385 [GRCh37] ChrX:52123054..58499110 [NCBI36] ChrX:Xp11.22-11.1 |
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: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: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:27245-155996431)x3 | copy number gain | See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 | copy number loss | See cases [RCV000052990] | ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 | copy number loss | See cases [RCV000053005] | ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 | copy number loss | See cases [RCV000053007] | ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 | copy number loss | See cases [RCV000052994] | ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] | ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) | single nucleotide variant | Aarskog syndrome [RCV000659639]|FGD1-related condition [RCV003403518] | ChrX:54446267 [GRCh38] ChrX:54472700 [GRCh37] ChrX:Xp11.22 |
pathogenic|likely 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 |
NM_004463.3(FGD1):c.2735G>A (p.Trp912Ter) | single nucleotide variant | not provided [RCV001291570] | ChrX:54446260 [GRCh38] ChrX:54472693 [GRCh37] ChrX:Xp11.22 |
pathogenic |
NM_004463.3(FGD1):c.2581-11C>T | single nucleotide variant | not provided [RCV003852816] | ChrX:54446425 [GRCh38] ChrX:54472858 [GRCh37] ChrX:Xp11.22 |
likely benign |
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 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 Xp22.33-q11.1(chrX:10701-62712219)x1 | copy number loss | See cases [RCV000134568] | ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 | copy number loss | See cases [RCV000134026] | ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
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 Xp21.1-q28(chrX:37076284-156016920)x1 | copy number loss | See cases [RCV000135300] | ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 | copy number loss | See cases [RCV000135306] | ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31 |
pathogenic |
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 | copy number gain | See cases [RCV000135877] | ChrX:53764152..58014767 [GRCh38] ChrX:53790650..58041201 [GRCh37] ChrX:53807375..58057926 [NCBI36] ChrX:Xp11.22-11.21 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) | copy number loss | See cases [RCV000136094] | ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 | copy number loss | See cases [RCV000136005] | ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 | copy number gain | See cases [RCV000135958] | ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21 |
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 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 Xp22.33-11.21(chrX:10701-58055036)x1 | copy number loss | See cases [RCV000137552] | ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 | copy number gain | See cases [RCV000137412] | ChrX:53750365..63089185 [GRCh38] ChrX:53776863..62203737 [GRCh37] ChrX:53793588..62225380 [NCBI36] ChrX:Xp11.22-q11.1 |
pathogenic |
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 | copy number loss | See cases [RCV000137414] | ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 | copy number gain | See cases [RCV000137137] | ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 | copy number loss | See cases [RCV000137886] | ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 | copy number loss | See cases [RCV000138678] | ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 | copy number loss | See cases [RCV000139343] | ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 | copy number loss | See cases [RCV000139352] | ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) | copy number loss | See cases [RCV000141742] | ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
pathogenic |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 | copy number loss | See cases [RCV000142334] | ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 | copy number loss | See cases [RCV000142036] | ChrX:51654792..58469500 [GRCh38] ChrX:51397726..58495933 [GRCh37] ChrX:51414466..58512658 [NCBI36] ChrX:Xp11.22-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 | copy number gain | See cases [RCV000142134] | ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 | copy number gain | See cases [RCV000142756] | ChrX:52809123..65305544 [GRCh38] ChrX:52838147..64525424 [GRCh37] ChrX:52854872..64442149 [NCBI36] ChrX:Xp11.22-q11.2 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 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)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 | copy number loss | See cases [RCV000143130] | ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21 |
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 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 |
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) | single nucleotide variant | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis [RCV000167572]|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis [RCV000191915] | ChrX:54443418 [GRCh38] ChrX:54469851 [GRCh37] ChrX:Xp11.22 |
pathogenic|not provided |
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 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-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 Xp22.33-11.21(chrX:70297-58066465)x1 | copy number loss | See cases [RCV000239814] | ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 | copy number gain | See cases [RCV000239834] | ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 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:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 | copy number gain | See cases [RCV000239889] | ChrX:53085607..67176333 [GRCh37] ChrX:Xp11.22-q12 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 | copy number gain | See cases [RCV000240019] | ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1 |
pathogenic |
GRCh37/hg19 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 Xp11.22-11.21(chrX:53220822-58066465)x3 | copy number gain | See cases [RCV000240407] | ChrX:53220822..58066465 [GRCh37] ChrX:Xp11.22-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=) | single nucleotide variant | Inborn genetic diseases [RCV002312989]|not provided [RCV000879206]|not specified [RCV000153231] | ChrX:54447323 [GRCh38] ChrX:54473756 [GRCh37] ChrX:Xp11.22 |
benign|likely benign |
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 | copy number gain | not provided [RCV000488046] | ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
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_004463.3(FGD1):c.2761C>T (p.Arg921Ter) | single nucleotide variant | Aarskog syndrome [RCV000210282]|not provided [RCV003314578] | ChrX:54446234 [GRCh38] ChrX:54472667 [GRCh37] ChrX:Xp11.22 |
likely pathogenic|uncertain significance |
NM_004463.3(FGD1):c.2751C>T (p.Gly917=) | single nucleotide variant | not provided [RCV000326916] | ChrX:54446244 [GRCh38] ChrX:54472677 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) | single nucleotide variant | FGD1-related condition [RCV003940028]|Inborn genetic diseases [RCV002317816]|not provided [RCV000378971] | ChrX:54446179 [GRCh38] ChrX:54472612 [GRCh37] ChrX:Xp11.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 | copy number loss | not provided [RCV000753275] | ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21 |
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 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:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 | copy number loss | See cases [RCV000446584] | ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21 |
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 Xp22.33-11.21(chrX:168546-56684082)x1 | copy number loss | See cases [RCV000447092] | ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 | copy number gain | See cases [RCV000448034] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.22(chrX:53797930-54608609)x3 | copy number gain | See cases [RCV000448260] | ChrX:53797930..54608609 [GRCh37] ChrX:Xp11.22 |
likely 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 Xp22.33-11.1(chrX:168546-58140271)x1 | copy number loss | See cases [RCV000447773] | ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 | copy number loss | See cases [RCV000512136] | ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 | copy number loss | See cases [RCV000510419] | ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 | copy number loss | See cases [RCV000510437] | ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 | copy number loss | See cases [RCV000511615] | ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 | copy number loss | See cases [RCV000512022] | ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 | copy number loss | See cases [RCV000511413] | ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 | copy number loss | See cases [RCV000512026] | ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 | copy number loss | See cases [RCV000510822] | ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_004463.3(FGD1):c.2753G>A (p.Arg918Gln) | single nucleotide variant | Inborn genetic diseases [RCV003276463] | ChrX:54446242 [GRCh38] ChrX:54472675 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2719G>T (p.Glu907Ter) | single nucleotide variant | not provided [RCV000490039] | ChrX:54446276 [GRCh38] ChrX:54472709 [GRCh37] ChrX:Xp11.22 |
likely pathogenic |
NM_058163.3(TSR2):c.212A>G (p.Glu71Gly) | single nucleotide variant | Inborn genetic diseases [RCV003294934] | ChrX:54443439 [GRCh38] ChrX:54469872 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) | copy number loss | See cases [RCV000512142] | ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu) | single nucleotide variant | TSR2-related condition [RCV003907445]|not provided [RCV000153230] | ChrX:54446209 [GRCh38] ChrX:54472642 [GRCh37] ChrX:Xp11.22 |
likely benign|uncertain significance |
NM_004463.3(FGD1):c.*36C>T | single nucleotide variant | Aarskog syndrome [RCV001701497]|not provided [RCV001594830]|not specified [RCV000081081] | ChrX:54446073 [GRCh38] ChrX:54472506 [GRCh37] ChrX:Xp11.22 |
benign |
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 | copy number loss | See cases [RCV000512339] | ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 | copy number gain | not provided [RCV000684261] | ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
NM_004463.3(FGD1):c.2619C>T (p.Phe873=) | single nucleotide variant | Inborn genetic diseases [RCV002424737]|not provided [RCV000711632] | ChrX:54446376 [GRCh38] ChrX:54472809 [GRCh37] ChrX:Xp11.22 |
benign|likely benign |
NM_004463.3(FGD1):c.2563A>G (p.Ile855Val) | single nucleotide variant | not provided [RCV000711631] | ChrX:54447328 [GRCh38] ChrX:54473761 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2805G>A (p.Arg935=) | single nucleotide variant | Inborn genetic diseases [RCV002313629] | ChrX:54446190 [GRCh38] ChrX:54472623 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) | single nucleotide variant | Inborn genetic diseases [RCV002318059]|not provided [RCV000865160] | ChrX:54446238 [GRCh38] ChrX:54472671 [GRCh37] ChrX:Xp11.22 |
benign|likely benign |
NM_004463.3(FGD1):c.2821C>T (p.Pro941Ser) | single nucleotide variant | Inborn genetic diseases [RCV002316694]|not provided [RCV002534945] | ChrX:54446174 [GRCh38] ChrX:54472607 [GRCh37] ChrX:Xp11.22 |
benign|likely benign |
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 | copy number loss | not provided [RCV000753535] | ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autism [RCV000754365] | ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.10:g.36649710_136649711del100000002insG | indel | Heterotaxy, visceral, 1, X-linked [RCV000754886] | ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
46,Y,inv(X)(p21.1q13.3) | inversion | Elevated circulating creatine kinase concentration [RCV000856573] | ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3 |
likely pathogenic |
NM_004463.3(FGD1):c.2581-6C>T | single nucleotide variant | Inborn genetic diseases [RCV003346234]|TSR2-related condition [RCV003962852]|not provided [RCV000968804]|not specified [RCV001195434] | ChrX:54446420 [GRCh38] ChrX:54472853 [GRCh37] ChrX:Xp11.22 |
benign|likely benign |
NM_058163.3(TSR2):c.234T>C (p.Asp78=) | single nucleotide variant | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis [RCV001420355]|TSR2-related condition [RCV003967975]|not provided [RCV000880358] | ChrX:54443461 [GRCh38] ChrX:54469894 [GRCh37] ChrX:Xp11.22 |
benign|likely benign |
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 Xp22.33-q11.1(chrX:168546-61877279)x1 | copy number loss | not provided [RCV000846273] | ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 | copy number loss | not provided [RCV000845670] | ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 | copy number loss | not provided [RCV001007224] | ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_058163.3(TSR2):c.341G>C (p.Cys114Ser) | single nucleotide variant | Inborn genetic diseases [RCV003249585] | ChrX:54444084 [GRCh38] ChrX:54470517 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.82-58C>T | single nucleotide variant | not provided [RCV001681023] | ChrX:54440632 [GRCh38] ChrX:54467065 [GRCh37] ChrX:Xp11.22 |
benign |
NM_004463.3(FGD1):c.2734T>C (p.Trp912Arg) | single nucleotide variant | not provided [RCV001550173] | ChrX:54446261 [GRCh38] ChrX:54472694 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2794_2797del (p.Ser932fs) | deletion | not provided [RCV003236965] | ChrX:54446198..54446201 [GRCh38] ChrX:54472631..54472634 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2846C>T (p.Ala949Val) | single nucleotide variant | not provided [RCV003234390] | ChrX:54446149 [GRCh38] ChrX:54472582 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
GRCh37/hg19 Xp11.22-11.21(chrX:53854115-54953273)x2 | copy number gain | not provided [RCV002473558] | ChrX:53854115..54953273 [GRCh37] ChrX:Xp11.22-11.21 |
uncertain significance |
NM_058163.3(TSR2):c.7G>A (p.Gly3Ser) | single nucleotide variant | not provided [RCV003106682] | ChrX:54440428 [GRCh38] ChrX:54466861 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3 | copy number gain | not provided [RCV002472635] | ChrX:53731940..63932866 [GRCh37] ChrX:Xp11.22-q11.2 |
likely pathogenic |
NM_058163.3(TSR2):c.*45A>G | single nucleotide variant | not provided [RCV001644491] | ChrX:54444595 [GRCh38] ChrX:54471028 [GRCh37] ChrX:Xp11.22 |
benign |
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 | copy number loss | See cases [RCV001263061] | ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
Single allele | complex | Turner syndrome [RCV002280670] | ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) | copy number loss | Turner syndrome [RCV002280668] | ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 | copy number loss | not provided [RCV001281358] | ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 | copy number loss | not provided [RCV001537933] | ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp11.22-11.21(chrX:52901458-55684871)x2 | copy number gain | not provided [RCV001834255] | ChrX:52901458..55684871 [GRCh37] ChrX:Xp11.22-11.21 |
pathogenic |
NM_004463.3(FGD1):c.2771C>T (p.Thr924Met) | single nucleotide variant | not provided [RCV001773019] | ChrX:54446224 [GRCh38] ChrX:54472657 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2612T>C (p.Ile871Thr) | single nucleotide variant | Aarskog syndrome [RCV002290746]|not provided [RCV001774193] | ChrX:54446383 [GRCh38] ChrX:54472816 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2872C>T (p.Arg958Ter) | single nucleotide variant | not provided [RCV001765533] | ChrX:54446123 [GRCh38] ChrX:54472556 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) | copy number loss | Turner syndrome [RCV002280671] | ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_004463.3(FGD1):c.2693G>A (p.Ser898Asn) | single nucleotide variant | not provided [RCV001758656] | ChrX:54446302 [GRCh38] ChrX:54472735 [GRCh37] ChrX:Xp11.22 |
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 Xp11.22-11.21(chrX:52881435-55684871) | copy number gain | not specified [RCV002053131] | ChrX:52881435..55684871 [GRCh37] ChrX:Xp11.22-11.21 |
likely pathogenic |
GRCh37/hg19 Xp11.22(chrX:53797930-54608609) | copy number gain | not specified [RCV002053133] | ChrX:53797930..54608609 [GRCh37] ChrX:Xp11.22 |
likely 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_004463.3(FGD1):c.2555T>C (p.Val852Ala) | single nucleotide variant | not provided [RCV001837647] | ChrX:54447336 [GRCh38] ChrX:54473769 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NC_000023.10:g.(?_53222149)_(54497940_?)dup | duplication | not provided [RCV001920511] | ChrX:53222149..54497940 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NC_000023.10:g.(?_53222149)_(55057617_?)del | deletion | Congenital muscular hypertrophy-cerebral syndrome [RCV003109486] | ChrX:53222149..55057617 [GRCh37] ChrX:Xp11.22-11.21 |
pathogenic |
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 Xp22.33-q28(chrX:200855-155240074) | copy number gain | Klinefelter syndrome [RCV003236730] | ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_058163.3(TSR2):c.104G>C (p.Gly35Ala) | single nucleotide variant | not provided [RCV002263555] | ChrX:54440712 [GRCh38] ChrX:54467145 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2530G>A (p.Val844Met) | single nucleotide variant | not provided [RCV002275857] | ChrX:54447361 [GRCh38] ChrX:54473794 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 | copy number loss | See cases [RCV002286357] | ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_004463.3(FGD1):c.2823G>A (p.Pro941=) | single nucleotide variant | Inborn genetic diseases [RCV002435006] | ChrX:54446172 [GRCh38] ChrX:54472605 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_004463.3(FGD1):c.2514G>A (p.Trp838Ter) | single nucleotide variant | Aarskog syndrome [RCV002290078] | ChrX:54447377 [GRCh38] ChrX:54473810 [GRCh37] ChrX:Xp11.22 |
likely pathogenic |
NM_004463.3(FGD1):c.2656A>T (p.Arg886Ter) | single nucleotide variant | Aarskog syndrome [RCV002283741] | ChrX:54446339 [GRCh38] ChrX:54472772 [GRCh37] ChrX:Xp11.22 |
likely pathogenic |
NM_004463.3(FGD1):c.2631G>A (p.Pro877=) | single nucleotide variant | Inborn genetic diseases [RCV002428560]|not provided [RCV003102049] | ChrX:54446364 [GRCh38] ChrX:54472797 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_004463.3(FGD1):c.2466C>T (p.Ser822=) | single nucleotide variant | FGD1-related condition [RCV003916470]|Inborn genetic diseases [RCV002455510] | ChrX:54447425 [GRCh38] ChrX:54473858 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_004463.3(FGD1):c.2729G>A (p.Arg910Gln) | single nucleotide variant | FGD1-related condition [RCV003933791]|Inborn genetic diseases [RCV002431351]|not provided [RCV003102150] | ChrX:54446266 [GRCh38] ChrX:54472699 [GRCh37] ChrX:Xp11.22 |
benign |
NM_004463.3(FGD1):c.2559G>A (p.Leu853=) | single nucleotide variant | Inborn genetic diseases [RCV002433354] | ChrX:54447332 [GRCh38] ChrX:54473765 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.12T>C (p.Ala4=) | single nucleotide variant | TSR2-related condition [RCV003936477]|not provided [RCV002972388] | ChrX:54440433 [GRCh38] ChrX:54466866 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.22G>C (p.Ala8Pro) | single nucleotide variant | Inborn genetic diseases [RCV002778431]|not provided [RCV003565583] | ChrX:54440443 [GRCh38] ChrX:54466876 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.173-6A>G | single nucleotide variant | not provided [RCV002615045] | ChrX:54443394 [GRCh38] ChrX:54469827 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2581-18T>C | single nucleotide variant | not provided [RCV002614259] | ChrX:54446432 [GRCh38] ChrX:54472865 [GRCh37] ChrX:Xp11.22 |
likely benign |
GRCh37/hg19 Xp11.22(chrX:54184241-54786514)x3 | copy number gain | not provided [RCV002475748] | ChrX:54184241..54786514 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.225C>T (p.Asn75=) | single nucleotide variant | not provided [RCV002953247] | ChrX:54443452 [GRCh38] ChrX:54469885 [GRCh37] ChrX:Xp11.22 |
benign |
NM_004463.3(FGD1):c.2544T>C (p.Asn848=) | single nucleotide variant | not provided [RCV002889718] | ChrX:54447347 [GRCh38] ChrX:54473780 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.442-17_442-16del | deletion | not provided [RCV002736054] | ChrX:54444397..54444398 [GRCh38] ChrX:54470830..54470831 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2761C>A (p.Arg921=) | single nucleotide variant | not provided [RCV003079381] | ChrX:54446234 [GRCh38] ChrX:54472667 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.14C>T (p.Ala5Val) | single nucleotide variant | Inborn genetic diseases [RCV002869234] | ChrX:54440435 [GRCh38] ChrX:54466868 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.442-8C>T | single nucleotide variant | not provided [RCV002913199] | ChrX:54444408 [GRCh38] ChrX:54470841 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.45G>T (p.Gly15=) | single nucleotide variant | not provided [RCV002952682] | ChrX:54440466 [GRCh38] ChrX:54466899 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2487C>T (p.His829=) | single nucleotide variant | not provided [RCV003042724] | ChrX:54447404 [GRCh38] ChrX:54473837 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_004463.3(FGD1):c.2580+19C>T | single nucleotide variant | not provided [RCV002575106] | ChrX:54447292 [GRCh38] ChrX:54473725 [GRCh37] ChrX:Xp11.22 |
benign |
NM_058163.3(TSR2):c.143G>A (p.Gly48Asp) | single nucleotide variant | not provided [RCV003083496] | ChrX:54440751 [GRCh38] ChrX:54467184 [GRCh37] ChrX:Xp11.22 |
benign |
NM_058163.3(TSR2):c.318T>C (p.Ala106=) | single nucleotide variant | not provided [RCV003081963] | ChrX:54444061 [GRCh38] ChrX:54470494 [GRCh37] ChrX:Xp11.22 |
benign|likely benign |
NM_058163.3(TSR2):c.172+20C>A | single nucleotide variant | not provided [RCV002741421] | ChrX:54440800 [GRCh38] ChrX:54467233 [GRCh37] ChrX:Xp11.22 |
likely benign|uncertain significance |
NM_004463.3(FGD1):c.2851C>A (p.Pro951Thr) | single nucleotide variant | Inborn genetic diseases [RCV002826406]|not provided [RCV003689028] | ChrX:54446144 [GRCh38] ChrX:54472577 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.494A>C (p.Glu165Ala) | single nucleotide variant | not provided [RCV003023955] | ChrX:54444468 [GRCh38] ChrX:54470901 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.511G>A (p.Ala171Thr) | single nucleotide variant | not provided [RCV002746190] | ChrX:54444485 [GRCh38] ChrX:54470918 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.462G>A (p.Gly154=) | single nucleotide variant | not provided [RCV002746382] | ChrX:54444436 [GRCh38] ChrX:54470869 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_004463.3(FGD1):c.2823G>C (p.Pro941=) | single nucleotide variant | not provided [RCV002580562] | ChrX:54446172 [GRCh38] ChrX:54472605 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.138G>C (p.Leu46=) | single nucleotide variant | not provided [RCV002628361] | ChrX:54440746 [GRCh38] ChrX:54467179 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2646G>A (p.Glu882=) | single nucleotide variant | not provided [RCV002607242] | ChrX:54446349 [GRCh38] ChrX:54472782 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.452C>T (p.Thr151Met) | single nucleotide variant | Inborn genetic diseases [RCV003201209] | ChrX:54444426 [GRCh38] ChrX:54470859 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2803A>G (p.Arg935Gly) | single nucleotide variant | Aarskog syndrome [RCV003147237] | ChrX:54446192 [GRCh38] ChrX:54472625 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys) | single nucleotide variant | Aarskog syndrome [RCV003147240] | ChrX:54447330 [GRCh38] ChrX:54473763 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln) | single nucleotide variant | Aarskog syndrome [RCV003147235]|not provided [RCV003778873] | ChrX:54446122 [GRCh38] ChrX:54472555 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.292C>T (p.His98Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003260324]|not provided [RCV003779903] | ChrX:54444035 [GRCh38] ChrX:54470468 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2501dup (p.Gly835fs) | duplication | Aarskog syndrome [RCV003326319] | ChrX:54447389..54447390 [GRCh38] ChrX:54473822..54473823 [GRCh37] ChrX:Xp11.22 |
likely pathogenic |
NM_004463.3(FGD1):c.2611A>G (p.Ile871Val) | single nucleotide variant | Aarskog syndrome [RCV003326308] | ChrX:54446384 [GRCh38] ChrX:54472817 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2851C>T (p.Pro951Ser) | single nucleotide variant | Inborn genetic diseases [RCV003381824] | ChrX:54446144 [GRCh38] ChrX:54472577 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2857G>A (p.Glu953Lys) | single nucleotide variant | Inborn genetic diseases [RCV003354170]|not provided [RCV003777529] | ChrX:54446138 [GRCh38] ChrX:54472571 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.61G>C (p.Glu21Gln) | single nucleotide variant | Inborn genetic diseases [RCV003372217] | ChrX:54440482 [GRCh38] ChrX:54466915 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
Single allele | duplication | not provided [RCV003448691] | ChrX:54054624..54663870 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
GRCh37/hg19 Xp11.22-11.21(chrX:54123342-55013132)x2 | copy number gain | not provided [RCV003483960] | ChrX:54123342..55013132 [GRCh37] ChrX:Xp11.22-11.21 |
uncertain significance |
NM_004463.3(FGD1):c.2569G>A (p.Gly857Arg) | single nucleotide variant | not provided [RCV003430508] | ChrX:54447322 [GRCh38] ChrX:54473755 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.17A>G (p.Glu6Gly) | single nucleotide variant | TSR2-related condition [RCV003419190] | ChrX:54440438 [GRCh38] ChrX:54466871 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2647C>T (p.Arg883Trp) | single nucleotide variant | not provided [RCV003430507] | ChrX:54446348 [GRCh38] ChrX:54472781 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.166C>A (p.Arg56Ser) | single nucleotide variant | not provided [RCV003430505] | ChrX:54440774 [GRCh38] ChrX:54467207 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2773T>G (p.Phe925Val) | single nucleotide variant | not provided [RCV003430506] | ChrX:54446222 [GRCh38] ChrX:54472655 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.505C>G (p.Pro169Ala) | single nucleotide variant | TSR2-related condition [RCV003421066] | ChrX:54444479 [GRCh38] ChrX:54470912 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2854C>G (p.Pro952Ala) | single nucleotide variant | not provided [RCV003577243] | ChrX:54446141 [GRCh38] ChrX:54472574 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2717_2718del (p.Glu906fs) | microsatellite | not provided [RCV003662102] | ChrX:54446277..54446278 [GRCh38] ChrX:54472710..54472711 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.167G>T (p.Arg56Leu) | single nucleotide variant | not provided [RCV003662866] | ChrX:54440775 [GRCh38] ChrX:54467208 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.168C>G (p.Arg56=) | single nucleotide variant | not provided [RCV003714208] | ChrX:54440776 [GRCh38] ChrX:54467209 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.516G>C (p.Gln172His) | single nucleotide variant | not provided [RCV003659790] | ChrX:54444490 [GRCh38] ChrX:54470923 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2604G>A (p.Leu868=) | single nucleotide variant | not provided [RCV003572788] | ChrX:54446391 [GRCh38] ChrX:54472824 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.187G>C (p.Asp63His) | single nucleotide variant | not provided [RCV003660703] | ChrX:54443414 [GRCh38] ChrX:54469847 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2547A>G (p.Glu849=) | single nucleotide variant | not provided [RCV003877694] | ChrX:54447344 [GRCh38] ChrX:54473777 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.223A>G (p.Asn75Asp) | single nucleotide variant | not provided [RCV003812019] | ChrX:54443450 [GRCh38] ChrX:54469883 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2748T>A (p.Leu916=) | single nucleotide variant | not provided [RCV003697411] | ChrX:54446247 [GRCh38] ChrX:54472680 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.264+13C>T | single nucleotide variant | not provided [RCV003697026] | ChrX:54443504 [GRCh38] ChrX:54469937 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_004463.3(FGD1):c.2574C>A (p.Ala858=) | single nucleotide variant | not provided [RCV003670510] | ChrX:54447317 [GRCh38] ChrX:54473750 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.25C>A (p.Arg9=) | single nucleotide variant | not provided [RCV003700638] | ChrX:54440446 [GRCh38] ChrX:54466879 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.82A>G (p.Ile28Val) | single nucleotide variant | not provided [RCV003675970] | ChrX:54440690 [GRCh38] ChrX:54467123 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_058163.3(TSR2):c.304A>C (p.Arg102=) | single nucleotide variant | not provided [RCV003680869] | ChrX:54444047 [GRCh38] ChrX:54470480 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
NM_004463.3(FGD1):c.2634C>T (p.Pro878=) | single nucleotide variant | not provided [RCV003737613] | ChrX:54446361 [GRCh38] ChrX:54472794 [GRCh37] ChrX:Xp11.22 |
benign |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) | copy number loss | not specified [RCV003986240] | ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
NM_004463.3(FGD1):c.2592C>G (p.Ala864=) | single nucleotide variant | not provided [RCV003719987] | ChrX:54446403 [GRCh38] ChrX:54472836 [GRCh37] ChrX:Xp11.22 |
likely benign |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) | copy number loss | not specified [RCV003986200] | ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_004463.3(FGD1):c.2799G>A (p.Glu933=) | single nucleotide variant | not provided [RCV003723257] | ChrX:54446196 [GRCh38] ChrX:54472629 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_004463.3(FGD1):c.2511A>G (p.Gly837=) | single nucleotide variant | not provided [RCV003823510] | ChrX:54447380 [GRCh38] ChrX:54473813 [GRCh37] ChrX:Xp11.22 |
likely benign |
NM_058163.3(TSR2):c.507A>G (p.Pro169=) | single nucleotide variant | not provided [RCV003710190] | ChrX:54444481 [GRCh38] ChrX:54470914 [GRCh37] ChrX:Xp11.22 |
uncertain significance |
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. |
SGC30464 |
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SHGC-24021 |
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RH75708 |
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G35013 |
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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 | 2439 | 2794 | 1719 | 617 | 1818 | 458 | 4357 | 2132 | 3734 | 418 | 1460 | 1613 | 174 | 1 | 1204 | 2788 | 6 | 2 |
Low | 197 | 7 | 7 | 133 | 7 | 65 | 1 | |||||||||||
Below cutoff |
RefSeq Transcripts | NG_051993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001346789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001346790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001346791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001346792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_058163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA251347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC007699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC011825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI488794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471154 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U92980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z85987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000375151 ⟹ ENSP00000364293 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001346789 ⟹ NP_001333718 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001346790 ⟹ NP_001333719 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001346791 ⟹ NP_001333720 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001346792 ⟹ NP_001333721 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_058163 ⟹ NP_477511 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001333718 | (Get FASTA) | NCBI Sequence Viewer |
NP_001333719 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001333720 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001333721 | (Get FASTA) | NCBI Sequence Viewer | |
NP_477511 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH07699 | (Get FASTA) | NCBI Sequence Viewer |
AAH11825 | (Get FASTA) | NCBI Sequence Viewer | |
EAW93177 | (Get FASTA) | NCBI Sequence Viewer | |
EAW93178 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000364293 | ||
ENSP00000364293.4 | |||
GenBank Protein | Q969E8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_477511 ⟸ NM_058163 |
- Peptide Label: | isoform a |
- UniProtKB: | Q969E8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001333720 ⟸ NM_001346791 |
- Peptide Label: | isoform c |
- Sequence: |
RefSeq Acc Id: | NP_001333719 ⟸ NM_001346790 |
- Peptide Label: | isoform c |
- Sequence: |
RefSeq Acc Id: | NP_001333718 ⟸ NM_001346789 |
- Peptide Label: | isoform b |
- Sequence: |
RefSeq Acc Id: | NP_001333721 ⟸ NM_001346792 |
- Peptide Label: | isoform c |
- Sequence: |
RefSeq Acc Id: | ENSP00000364293 ⟸ ENST00000375151 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q969E8-F1-model_v2 | AlphaFold | Q969E8 | 1-191 | view protein structure |
RGD ID: | 13605402 | ||||||||
Promoter ID: | EPDNEW_H28885 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | TSR2_1 | ||||||||
Description: | TSR2, ribosome maturation factor | ||||||||
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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RGD ID: | 6809345 | ||||||||
Promoter ID: | HG_KWN:66965 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000056802, UC004DTF.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:25455 | AgrOrtholog |
COSMIC | TSR2 | COSMIC |
Ensembl Genes | ENSG00000158526 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000375151 | ENTREZGENE |
ENST00000375151.5 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000158526 | GTEx |
HGNC ID | HGNC:25455 | ENTREZGENE |
Human Proteome Map | TSR2 | Human Proteome Map |
InterPro | Pre-rRNA_process_TSR2 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:90121 | UniProtKB/Swiss-Prot |
NCBI Gene | 90121 | ENTREZGENE |
OMIM | 300945 | OMIM |
PANTHER | PRE-RRNA-PROCESSING PROTEIN TSR2 HOMOLOG | UniProtKB/Swiss-Prot |
PTHR21250 | UniProtKB/Swiss-Prot | |
Pfam | WGG | UniProtKB/Swiss-Prot |
PharmGKB | PA145147877 | PharmGKB |
UniProt | Q969E8 | ENTREZGENE, UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-01-29 | TSR2 | TSR2 ribosome maturation factor | TSR2, ribosome maturation factor | Symbol and/or name change | 5135510 | APPROVED | |
2016-04-26 | TSR2 | TSR2, ribosome maturation factor | TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |