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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | AFF2 | Human | fragile X syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | AFF2 | Human | fragile X syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:1301146 | PMID:FRAXE | PMID:7541938 | PMID:7783162 | PMID:8023854 | PMID:8334699 | PMID:8651274 | PMID:8673085 | PMID:8673086 | PMID:8824884 | PMID:8900249 | PMID:9032643 |
PMID:9147647 | PMID:9299237 | PMID:9341861 | PMID:9467002 | PMID:9475603 | PMID:10196698 | PMID:10528856 | PMID:10737800 | PMID:10780779 | PMID:10850542 | PMID:10964075 | PMID:11119302 |
PMID:11355014 | PMID:12477932 | PMID:12777533 | PMID:15772651 | PMID:17196195 | PMID:17474147 | PMID:18029348 | PMID:19136466 | PMID:19460752 | PMID:20734064 | PMID:21254876 | PMID:21330300 |
PMID:21739600 | PMID:21873635 | PMID:22065534 | PMID:22773736 | PMID:23562910 | PMID:25256661 | PMID:26002199 | PMID:29846670 | PMID:29987050 | PMID:30575818 | PMID:31784536 | PMID:33653372 |
PMID:34049316 | PMID:34111553 | PMID:34282157 | PMID:35044719 | PMID:35701667 | PMID:35844135 | PMID:37313815 | PMID:37381158 |
AFF2 (Homo sapiens - human) |
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Aff2 (Mus musculus - house mouse) |
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Aff2 (Rattus norvegicus - Norway rat) |
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Aff2 (Chinchilla lanigera - long-tailed chinchilla) |
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AFF2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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AFF2 (Canis lupus familiaris - dog) |
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Aff2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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AFF2 (Sus scrofa - pig) |
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AFF2 (Chlorocebus sabaeus - green monkey) |
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Aff2 (Heterocephalus glaber - naked mole-rat) |
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Variants in AFF2
277 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_002025.4(AFF2):c.3847C>T (p.Pro1283Ser) | single nucleotide variant | not provided [RCV000523214] | ChrX:148991243 [GRCh38] ChrX:148072773 [GRCh37] ChrX:Xq28 |
uncertain significance |
NG_016313.2:g.(5527_156380)_(156514_166289)del | deletion | FRAXE [RCV000022875] | ChrX:Xq28 | pathogenic |
NM_002025.4(AFF2):c.1041+56456A>G | single nucleotide variant | FRAXE [RCV001548976]|not provided [RCV001751800] | ChrX:148719224 [GRCh38] ChrX:147800748 [GRCh37] ChrX:Xq28 |
benign |
NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met) | single nucleotide variant | FRAXE [RCV002470898]|not provided [RCV000519682] | ChrX:148966914 [GRCh38] ChrX:148048444 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_001169122.2(AFF2):c.-460GCC[6_25] | microsatellite | FRAXE [RCV000011272] | ChrX:148500638..148500640 [GRCh38] ChrX:147582158..147582160 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
NM_002025.4(AFF2):c.1558C>A (p.Pro520Thr) | single nucleotide variant | not provided [RCV000522151] | ChrX:148955603 [GRCh38] ChrX:148037133 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xq27.3-28(chrX:146896288-149621145)x1 | copy number loss | See cases [RCV000050631] | ChrX:146896288..149621145 [GRCh38] ChrX:145785498..148510629 [NCBI36] ChrX:Xq27.3-28 |
pathogenic |
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 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 Xq27.3-28(chrX:147151996-150364798)x1 | copy number loss | See cases [RCV000051748] | ChrX:147151996..150364798 [GRCh38] ChrX:146041206..149283723 [NCBI36] ChrX:Xq27.3-28 |
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 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 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 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 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 Xq27.1-28(chrX:139230333-150628474)x1 | copy number loss | See cases [RCV000051733] | ChrX:139230333..150628474 [GRCh38] ChrX:138312495..149782550 [GRCh37] ChrX:138140161..149547605 [NCBI36] ChrX:Xq27.1-28 |
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: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: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:40704-156022362)x3 | copy number gain | See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 |
NM_002025.3(AFF2):c.3694C>T (p.Pro1232Ser) | single nucleotide variant | Malignant melanoma [RCV000073106] | ChrX:148987437 [GRCh38] ChrX:148068967 [GRCh37] ChrX:147876673 [NCBI36] ChrX:Xq28 |
not provided |
NM_002025.4(AFF2):c.2424C>T (p.Asp808=) | single nucleotide variant | not provided [RCV000079969] | ChrX:148956469 [GRCh38] ChrX:148037999 [GRCh37] ChrX:Xq28 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) | single nucleotide variant | AFF2-related disorder [RCV003952504]|FRAXE [RCV000990961]|Intellectual disability [RCV001251878]|not provided [RCV000079970] | ChrX:148966964 [GRCh38] ChrX:148048494 [GRCh37] ChrX:Xq28 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002025.4(AFF2):c.3404+7A>G | single nucleotide variant | FRAXE [RCV001548979]|not provided [RCV004713231]|not specified [RCV000079971] | ChrX:148973614 [GRCh38] ChrX:148055144 [GRCh37] ChrX:Xq28 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_002025.4(AFF2):c.1118C>G (p.Thr373Ser) | single nucleotide variant | not provided [RCV000116240] | ChrX:148837678 [GRCh38] ChrX:147919202 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1488G>A (p.Ser496=) | single nucleotide variant | FRAXE [RCV001548977]|not provided [RCV001610396]|not specified [RCV000116243] | ChrX:148953670 [GRCh38] ChrX:148035200 [GRCh37] ChrX:Xq28 |
benign |
NM_002025.4(AFF2):c.1653A>G (p.Thr551=) | single nucleotide variant | AFF2-related disorder [RCV003935109]|not provided [RCV000864320]|not specified [RCV000116244] | ChrX:148955698 [GRCh38] ChrX:148037228 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) | single nucleotide variant | FRAXE [RCV000766075]|not provided [RCV000116245] | ChrX:148955875 [GRCh38] ChrX:148037405 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3837G>A (p.Thr1279=) | single nucleotide variant | AFF2-related disorder [RCV003905110]|not provided [RCV004713268]|not specified [RCV000116246] | ChrX:148991233 [GRCh38] ChrX:148072763 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_002025.4(AFF2):c.493A>G (p.Asn165Asp) | single nucleotide variant | not provided [RCV000913989]|not specified [RCV000116247] | ChrX:148662220 [GRCh38] ChrX:147743741 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
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 |
NM_002025.4(AFF2):c.2296AAC[2] (p.Asn768del) | microsatellite | not provided [RCV000174061] | ChrX:148956340..148956342 [GRCh38] ChrX:148037870..148037872 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 |
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) | single nucleotide variant | AFF2-related disorder [RCV003975275]|FRAXE [RCV000990960]|not provided [RCV000872541]|not specified [RCV000174514] | ChrX:148962804 [GRCh38] ChrX:148044334 [GRCh37] ChrX:Xq28 |
benign|likely benign|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 |
NM_002025.4(AFF2):c.3270C>T (p.Phe1090=) | single nucleotide variant | not provided [RCV000175033] | ChrX:148973473 [GRCh38] ChrX:148055003 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 | copy number loss | See cases [RCV000134958] | ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 | copy number loss | See cases [RCV000134947] | ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 | copy number loss | See cases [RCV000135454] | ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 | copy number gain | See cases [RCV000136552] | ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 | copy number gain | See cases [RCV000136030] | ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
pathogenic |
GRCh38/hg38 Xp22.33-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 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 Xq28(chrX:148008451-148757955)x3 | copy number gain | See cases [RCV000135952] | ChrX:148008451..148757955 [GRCh38] ChrX:146897663..147647171 [NCBI36] ChrX:Xq28 |
uncertain significance |
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 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 Xq11.1-28(chrX:62561604-156003242)x3 | copy number gain | See cases [RCV000137553] | ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 | copy number loss | See cases [RCV000137415] | ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
GRCh38/hg38 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 Xq13.3-28(chrX:76604011-156022206)x1 | copy number loss | See cases [RCV000137138] | ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 | copy number gain | See cases [RCV000138020] | ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
GRCh38/hg38 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 Xq22.3-28(chrX:106465610-156003242)x1 | copy number loss | See cases [RCV000138541] | ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 | copy number loss | See cases [RCV000139351] | ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 | copy number loss | See cases [RCV000139400] | ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 | copy number gain | See cases [RCV000139416] | ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 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 Xq28(chrX:148999676-149003587)x1 | copy number loss | See cases [RCV000140858] | ChrX:148999676..149003587 [GRCh38] ChrX:147888912..147892823 [NCBI36] ChrX:Xq28 |
uncertain significance |
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 Xq28(chrX:148959372-149023968)x1 | copy number loss | See cases [RCV000141651] | ChrX:148959372..149023968 [GRCh38] ChrX:148040902..148105498 [GRCh37] ChrX:147848598..147913208 [NCBI36] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1 | copy number loss | See cases [RCV000141518] | ChrX:142602008..149482800 [GRCh38] ChrX:141689794..147944759 [GRCh37] ChrX:141517460..148372236 [NCBI36] ChrX:Xq27.2-28 |
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 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: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 |
NM_002025.4(AFF2):c.1541G>C (p.Arg514Pro) | single nucleotide variant | Inborn genetic diseases [RCV003162621]|not provided [RCV000152754]|not specified [RCV001818341] | ChrX:148953723 [GRCh38] ChrX:148035253 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) | single nucleotide variant | not provided [RCV001529608]|not specified [RCV000152753] | ChrX:148662223 [GRCh38] ChrX:147743744 [GRCh37] ChrX:Xq28 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) | single nucleotide variant | AFF2-related disorder [RCV003927475]|FRAXE [RCV002498722]|Intellectual disability [RCV001251879]|not provided [RCV000826947]|not specified [RCV000152755] | ChrX:148958424 [GRCh38] ChrX:148039954 [GRCh37] ChrX:Xq28 |
benign|likely benign |
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_002025.4(AFF2):c.3576T>C (p.Asn1192=) | single nucleotide variant | not provided [RCV000175425] | ChrX:148980743 [GRCh38] ChrX:148062273 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_002025.4(AFF2):c.3696A>T (p.Pro1232=) | single nucleotide variant | not provided [RCV000872139]|not specified [RCV000176056] | ChrX:148987439 [GRCh38] ChrX:148068969 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_002025.4(AFF2):c.733G>A (p.Ala245Thr) | single nucleotide variant | Inborn genetic diseases [RCV004020308]|not specified [RCV000193577] | ChrX:148662460 [GRCh38] ChrX:147743981 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) | single nucleotide variant | AFF2-related disorder [RCV003955070]|not provided [RCV000514397]|not specified [RCV000178859] | ChrX:148837681 [GRCh38] ChrX:147919205 [GRCh37] ChrX:Xq28 |
benign |
NM_002025.4(AFF2):c.495C>A (p.Asn165Lys) | single nucleotide variant | not provided [RCV000177145] | ChrX:148662222 [GRCh38] ChrX:147743743 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.181-6T>C | single nucleotide variant | not provided [RCV000177146] | ChrX:148661902 [GRCh38] ChrX:147743423 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 | copy number gain | See cases [RCV000240143] | ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002025.4(AFF2):c.1133C>G (p.Ala378Gly) | single nucleotide variant | not specified [RCV000194496] | ChrX:148837693 [GRCh38] ChrX:147919217 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.47+16T>C | single nucleotide variant | not specified [RCV000194507] | ChrX:148501160 [GRCh38] ChrX:147582680 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.292C>A (p.Pro98Thr) | single nucleotide variant | not specified [RCV000192435] | ChrX:148662019 [GRCh38] ChrX:147743540 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3081C>T (p.Thr1027=) | single nucleotide variant | not specified [RCV000193463] | ChrX:148966957 [GRCh38] ChrX:148048487 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_002025.4(AFF2):c.*4554C>G | single nucleotide variant | FRAXE [RCV000203550] | ChrX:148995886 [GRCh38] ChrX:148077416 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1445G>C (p.Gly482Ala) | single nucleotide variant | Inborn genetic diseases [RCV000210652] | ChrX:148953627 [GRCh38] ChrX:148035157 [GRCh37] ChrX:Xq28 |
uncertain significance |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002025.4(AFF2):c.3035C>T (p.Ala1012Val) | single nucleotide variant | Inborn genetic diseases [RCV000623793] | ChrX:148966911 [GRCh38] ChrX:148048441 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 | copy number gain | See cases [RCV000240530] | ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28 |
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 Xq25-28(chrX:121022022-155211482)x1 | copy number loss | See cases [RCV000240337] | ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002025.4(AFF2):c.1858A>G (p.Thr620Ala) | single nucleotide variant | AFF2-related disorder [RCV003955456]|not provided [RCV004703575]|not specified [RCV000375308] | ChrX:148955903 [GRCh38] ChrX:148037433 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1097A>G (p.His366Arg) | single nucleotide variant | AFF2-related disorder [RCV003930080]|Inborn genetic diseases [RCV004021134]|not provided [RCV000347232] | ChrX:148837657 [GRCh38] ChrX:147919181 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_002025.4(AFF2):c.64C>T (p.Arg22Cys) | single nucleotide variant | not provided [RCV000352640] | ChrX:148652015 [GRCh38] ChrX:147733536 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3670G>A (p.Ala1224Thr) | single nucleotide variant | not provided [RCV000321577] | ChrX:148987413 [GRCh38] ChrX:148068943 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe) | single nucleotide variant | FRAXE [RCV001195877]|not provided [RCV000290270] | ChrX:148955887 [GRCh38] ChrX:148037417 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1424C>G (p.Pro475Arg) | single nucleotide variant | not provided [RCV000399925] | ChrX:148953606 [GRCh38] ChrX:148035136 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1262+1G>C | single nucleotide variant | not provided [RCV000399474] | ChrX:148843434 [GRCh38] ChrX:147924958 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1309G>C (p.Glu437Gln) | single nucleotide variant | not provided [RCV003159436] | ChrX:148885935 [GRCh38] ChrX:147967465 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.410C>T (p.Pro137Leu) | single nucleotide variant | not provided [RCV003239209] | ChrX:148662137 [GRCh38] ChrX:147743658 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2181C>T (p.Thr727=) | single nucleotide variant | not provided [RCV000937960]|not specified [RCV000596684] | ChrX:148956226 [GRCh38] ChrX:148037756 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_002025.4(AFF2):c.2196C>T (p.Val732=) | single nucleotide variant | not provided [RCV000864694]|not specified [RCV000596968] | ChrX:148956241 [GRCh38] ChrX:148037771 [GRCh37] ChrX:Xq28 |
benign |
NM_002025.4(AFF2):c.781C>T (p.Pro261Ser) | single nucleotide variant | not provided [RCV000293516] | ChrX:148662508 [GRCh38] ChrX:147744029 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3606A>G (p.Pro1202=) | single nucleotide variant | not provided [RCV000332887] | ChrX:148980773 [GRCh38] ChrX:148062303 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3405-1G>T | single nucleotide variant | not provided [RCV000522076] | ChrX:148977932 [GRCh38] ChrX:148059462 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.76A>T (p.Lys26Ter) | single nucleotide variant | Inborn genetic diseases [RCV000622545] | ChrX:148652027 [GRCh38] ChrX:147733548 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_002025.4(AFF2):c.233A>G (p.Tyr78Cys) | single nucleotide variant | Inborn genetic diseases [RCV000623234] | ChrX:148661960 [GRCh38] ChrX:147743481 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2830G>A (p.Ala944Thr) | single nucleotide variant | Inborn genetic diseases [RCV000622918] | ChrX:148962854 [GRCh38] ChrX:148044384 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.178T>C (p.Tyr60His) | single nucleotide variant | not provided [RCV000520309] | ChrX:148652129 [GRCh38] ChrX:147733650 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3100C>A (p.Leu1034Ile) | single nucleotide variant | Inborn genetic diseases [RCV002532564]|not provided [RCV000591359] | ChrX:148966976 [GRCh38] ChrX:148048506 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_002025.4(AFF2):c.2776C>T (p.Arg926Cys) | single nucleotide variant | not provided [RCV001092168] | ChrX:148962800 [GRCh38] ChrX:148044330 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3209A>G (p.His1070Arg) | single nucleotide variant | Short stature [RCV000414874] | ChrX:148967634 [GRCh38] ChrX:148049164 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3374C>T (p.Thr1125Ile) | single nucleotide variant | not provided [RCV003221456] | ChrX:148973577 [GRCh38] ChrX:148055107 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 | copy number loss | See cases [RCV000449365] | ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 | copy number loss | See cases [RCV000447490] | ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
GRCh37/hg19 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 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:168546-155081533)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 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:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:147573612-147620560)x0 | copy number loss | See cases [RCV000446948] | ChrX:147573612..147620560 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_002025.4(AFF2):c.340T>C (p.Phe114Leu) | single nucleotide variant | not provided [RCV000431090] | ChrX:148662067 [GRCh38] ChrX:147743588 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3447G>A (p.Ser1149=) | single nucleotide variant | not specified [RCV000424453] | ChrX:148977975 [GRCh38] ChrX:148059505 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1262+6T>C | single nucleotide variant | not provided [RCV000434916] | ChrX:148843439 [GRCh38] ChrX:147924963 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.926T>C (p.Ile309Thr) | single nucleotide variant | not provided [RCV000420277] | ChrX:148662653 [GRCh38] ChrX:147744174 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 | copy number loss | See cases [RCV000445891] | ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
NM_002025.4(AFF2):c.481C>A (p.Arg161Ser) | single nucleotide variant | not provided [RCV000436022] | ChrX:148662208 [GRCh38] ChrX:147743729 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.566C>T (p.Ser189Phe) | single nucleotide variant | not provided [RCV000439492] | ChrX:148662293 [GRCh38] ChrX:147743814 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.896C>T (p.Pro299Leu) | single nucleotide variant | not provided [RCV000422304]|not specified [RCV001193618] | ChrX:148662623 [GRCh38] ChrX:147744144 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.199C>T (p.Leu67Phe) | single nucleotide variant | not provided [RCV000425733] | ChrX:148661926 [GRCh38] ChrX:147743447 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1460C>T (p.Ser487Phe) | single nucleotide variant | not provided [RCV000422612] | ChrX:148953642 [GRCh38] ChrX:148035172 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
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 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:70297-155246585)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 |
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 | copy number loss | See cases [RCV000448870] | ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002025.4(AFF2):c.3575del (p.Asn1192fs) | deletion | not provided [RCV000482948] | ChrX:148980739 [GRCh38] ChrX:148062269 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_002025.4(AFF2):c.1114C>T (p.Leu372Phe) | single nucleotide variant | not provided [RCV000480665] | ChrX:148837674 [GRCh38] ChrX:147919198 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002025.4(AFF2):c.2427A>G (p.Leu809=) | single nucleotide variant | not specified [RCV000501412] | ChrX:148956472 [GRCh38] ChrX:148038002 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3589G>A (p.Ala1197Thr) | single nucleotide variant | Inborn genetic diseases [RCV003159615]|not specified [RCV000503858] | ChrX:148980756 [GRCh38] ChrX:148062286 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.561C>A (p.Asp187Glu) | single nucleotide variant | Inborn genetic diseases [RCV002527185]|not specified [RCV000499580] | ChrX:148662288 [GRCh38] ChrX:147743809 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3697G>A (p.Val1233Ile) | single nucleotide variant | not provided [RCV002461251]|not specified [RCV000500496] | ChrX:148987440 [GRCh38] ChrX:148068970 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3267+5G>A | single nucleotide variant | FRAXE [RCV001095676]|not provided [RCV000498584] | ChrX:148967697 [GRCh38] ChrX:148049227 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_002025.4(AFF2):c.2702C>A (p.Ser901Tyr) | single nucleotide variant | not specified [RCV000503201] | ChrX:148962726 [GRCh38] ChrX:148044256 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:147579427-147603852)x3 | copy number gain | See cases [RCV000511551] | ChrX:147579427..147603852 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:148050494-148155055)x2 | copy number gain | See cases [RCV000512033] | ChrX:148050494..148155055 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 | copy number loss | See cases [RCV000511482] | ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 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:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [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 Xq26.3-28(chrX:133944147-155233731)x3 | copy number gain | See cases [RCV000511034] | ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
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:148015538-148827774)x2 | copy number gain | See cases [RCV000510949] | ChrX:148015538..148827774 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 | copy number gain | See cases [RCV000510826] | ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_002025.4(AFF2):c.1173G>A (p.Gln391=) | single nucleotide variant | FRAXE [RCV001330675]|not provided [RCV004592783] | ChrX:148837733 [GRCh38] ChrX:147919257 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1640G>A (p.Gly547Asp) | single nucleotide variant | not provided [RCV000514632] | ChrX:148955685 [GRCh38] ChrX:148037215 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3034G>A (p.Ala1012Thr) | single nucleotide variant | Inborn genetic diseases [RCV003277621] | ChrX:148966910 [GRCh38] ChrX:148048440 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2623A>G (p.Thr875Ala) | single nucleotide variant | Inborn genetic diseases [RCV003252245] | ChrX:148958391 [GRCh38] ChrX:148039921 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1042-5T>G | single nucleotide variant | not specified [RCV000601899] | ChrX:148809871 [GRCh38] ChrX:147891395 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 | copy number gain | See cases [RCV000512365] | ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28 |
uncertain significance |
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 | copy number loss | See cases [RCV000512372] | ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
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 Xq27.1-28(chrX:138331745-155233731)x1 | copy number loss | not provided [RCV000684397] | ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 | copy number gain | not provided [RCV000684402] | ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28 |
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 Xq28(chrX:147680249-149682911)x2 | copy number gain | not provided [RCV000684408] | ChrX:147680249..149682911 [GRCh37] ChrX:Xq28 |
uncertain significance |
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 Xq22.3-28(chrX:107823442-155233731)x1 | copy number loss | not provided [RCV000684373] | ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
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:147891807-147993972)x2 | copy number gain | not provided [RCV000684409] | ChrX:147891807..147993972 [GRCh37] ChrX:Xq28 |
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 Xq22.3-28(chrX:104098124-155233731)x1 | copy number loss | not provided [RCV000846958] | ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
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 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:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
Single allele | duplication | Autism [RCV000754365] | ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 | copy number loss | Premature ovarian insufficiency [RCV000852349] | ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
NM_002025.4(AFF2):c.1697T>C (p.Met566Thr) | single nucleotide variant | not provided [RCV000871936] | ChrX:148955742 [GRCh38] ChrX:148037272 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1541G>A (p.Arg514His) | single nucleotide variant | Inborn genetic diseases [RCV004619406]|not provided [RCV000762674] | ChrX:148953723 [GRCh38] ChrX:148035253 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_002025.4(AFF2):c.2009G>A (p.Arg670His) | single nucleotide variant | FRAXE [RCV003141744]|not provided [RCV000762675] | ChrX:148956054 [GRCh38] ChrX:148037584 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1045A>G (p.Ser349Gly) | single nucleotide variant | not provided [RCV001551128] | ChrX:148809879 [GRCh38] ChrX:147891403 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_002025.4(AFF2):c.1788C>A (p.Ala596=) | single nucleotide variant | not provided [RCV000945817]|not specified [RCV001818928] | ChrX:148955833 [GRCh38] ChrX:148037363 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_002025.4(AFF2):c.1398-10T>G | single nucleotide variant | not provided [RCV000882858] | ChrX:148953570 [GRCh38] ChrX:148035100 [GRCh37] ChrX:Xq28 |
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_002025.4(AFF2):c.1558-78G>C | single nucleotide variant | FRAXE [RCV001548978]|not provided [RCV004714275] | ChrX:148955525 [GRCh38] ChrX:148037055 [GRCh37] ChrX:Xq28 |
benign |
NM_002025.4(AFF2):c.407T>A (p.Met136Lys) | single nucleotide variant | not provided [RCV000996030] | ChrX:148662134 [GRCh38] ChrX:147743655 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1625A>G (p.Lys542Arg) | single nucleotide variant | not provided [RCV000996031] | ChrX:148955670 [GRCh38] ChrX:148037200 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2913+7A>G | single nucleotide variant | not provided [RCV000996032] | ChrX:148962944 [GRCh38] ChrX:148044474 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3827A>G (p.Asp1276Gly) | single nucleotide variant | not provided [RCV000782016] | ChrX:148991223 [GRCh38] ChrX:148072753 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:147642893-147870805) | copy number loss | FRAXE [RCV000767809] | ChrX:147642893..147870805 [GRCh37] ChrX:Xq28 |
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_002025.4(AFF2):c.1404C>T (p.Pro468=) | single nucleotide variant | not provided [RCV000896958] | ChrX:148953586 [GRCh38] ChrX:148035116 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3814+10T>G | single nucleotide variant | not provided [RCV000876625] | ChrX:148987567 [GRCh38] ChrX:148069097 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3268T>A (p.Phe1090Ile) | single nucleotide variant | Inborn genetic diseases [RCV002545907]|not provided [RCV000938905] | ChrX:148973471 [GRCh38] ChrX:148055001 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3654C>T (p.Asn1218=) | single nucleotide variant | not provided [RCV000877175] | ChrX:148987397 [GRCh38] ChrX:148068927 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.294A>G (p.Pro98=) | single nucleotide variant | not provided [RCV000903057] | ChrX:148662021 [GRCh38] ChrX:147743542 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1467A>G (p.Glu489=) | single nucleotide variant | not provided [RCV000880185] | ChrX:148953649 [GRCh38] ChrX:148035179 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3456C>T (p.Asp1152=) | single nucleotide variant | not provided [RCV000920418] | ChrX:148977984 [GRCh38] ChrX:148059514 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1834C>G (p.His612Asp) | single nucleotide variant | FRAXE [RCV000990959]|not specified [RCV001819696] | ChrX:148955879 [GRCh38] ChrX:148037409 [GRCh37] ChrX:Xq28 |
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 |
NM_002025.4(AFF2):c.853C>A (p.Pro285Thr) | single nucleotide variant | FRAXE [RCV003315142] | ChrX:148662580 [GRCh38] ChrX:147744101 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3229C>T (p.Gln1077Ter) | single nucleotide variant | Intellectual disability [RCV000850211] | ChrX:148967654 [GRCh38] ChrX:148049184 [GRCh37] ChrX:Xq28 |
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 Xq24-28(chrX:118150047-155233731)x1 | copy number loss | not provided [RCV000847838] | ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 | copy number gain | not provided [RCV000846424] | ChrX:139513270..149234353 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
NM_002025.4(AFF2):c.3623+57G>A | single nucleotide variant | FRAXE [RCV001548980]|not provided [RCV004714276] | ChrX:148980847 [GRCh38] ChrX:148062377 [GRCh37] ChrX:Xq28 |
benign |
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 Xq21.1-28(chrX:78444738-155233731)x1 | copy number loss | not provided [RCV001007318] | ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 | copy number loss | not provided [RCV000849097] | ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_002025.4(AFF2):c.189A>C (p.Lys63Asn) | single nucleotide variant | not provided [RCV004784536] | ChrX:148661916 [GRCh38] ChrX:147743437 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1511C>T (p.Thr504Ile) | single nucleotide variant | not provided [RCV003230063] | ChrX:148953693 [GRCh38] ChrX:148035223 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.982C>G (p.Pro328Ala) | single nucleotide variant | not provided [RCV003318224] | ChrX:148662709 [GRCh38] ChrX:147744230 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2929A>G (p.Lys977Glu) | single nucleotide variant | Inborn genetic diseases [RCV003275500]|not provided [RCV003738415] | ChrX:148966805 [GRCh38] ChrX:148048335 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3002_3031del (p.Ile1001_Ala1010del) | deletion | AFF2-related disorder [RCV003943068]|not provided [RCV000954544] | ChrX:148966868..148966897 [GRCh38] ChrX:148048398..148048427 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1353C>G (p.Leu451=) | single nucleotide variant | not provided [RCV000951995]|not specified [RCV001818976] | ChrX:148885979 [GRCh38] ChrX:147967509 [GRCh37] ChrX:Xq28 |
benign |
NM_002025.4(AFF2):c.2907G>A (p.Ser969=) | single nucleotide variant | Inborn genetic diseases [RCV004029427]|not provided [RCV000918276] | ChrX:148962931 [GRCh38] ChrX:148044461 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3147C>T (p.Pro1049=) | single nucleotide variant | not provided [RCV000888557] | ChrX:148967023 [GRCh38] ChrX:148048553 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1702G>A (p.Val568Ile) | single nucleotide variant | not specified [RCV001193619] | ChrX:148955747 [GRCh38] ChrX:148037277 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2112G>A (p.Val704=) | single nucleotide variant | not provided [RCV000934449] | ChrX:148956157 [GRCh38] ChrX:148037687 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2065C>T (p.Pro689Ser) | single nucleotide variant | not provided [RCV001573504] | ChrX:148956110 [GRCh38] ChrX:148037640 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3679A>C (p.Asn1227His) | single nucleotide variant | not provided [RCV001567628] | ChrX:148987422 [GRCh38] ChrX:148068952 [GRCh37] ChrX:Xq28 |
likely benign|uncertain significance |
NM_002025.4(AFF2):c.2205G>T (p.Pro735=) | single nucleotide variant | not provided [RCV001532717] | ChrX:148956250 [GRCh38] ChrX:148037780 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1238C>T (p.Ser413Phe) | single nucleotide variant | not provided [RCV001039527] | ChrX:148843409 [GRCh38] ChrX:147924933 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2914-15C>A | single nucleotide variant | FRAXE [RCV001196200] | ChrX:148966775 [GRCh38] ChrX:148048305 [GRCh37] ChrX:Xq28 |
uncertain significance |
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:147836583-148128379)x3 | copy number gain | not provided [RCV001007356] | ChrX:147836583..148128379 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3448G>T (p.Asp1150Tyr) | single nucleotide variant | FRAXE [RCV001251517] | ChrX:148977976 [GRCh38] ChrX:148059506 [GRCh37] ChrX:Xq28 |
pathogenic |
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 | copy number loss | not provided [RCV001259012] | ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
NM_002025.4(AFF2):c.179A>G (p.Tyr60Cys) | single nucleotide variant | Intellectual disability [RCV001251877] | ChrX:148652130 [GRCh38] ChrX:147733651 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.263A>G (p.His88Arg) | single nucleotide variant | Inborn genetic diseases [RCV001265756] | ChrX:148661990 [GRCh38] ChrX:147743511 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3203+1G>A | single nucleotide variant | Inborn genetic diseases [RCV001266608] | ChrX:148967080 [GRCh38] ChrX:148048610 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) | copy number loss | Turner syndrome [RCV002280672] | ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
NM_002025.4(AFF2):c.3098G>A (p.Gly1033Asp) | single nucleotide variant | Inborn genetic diseases [RCV001267267] | ChrX:148966974 [GRCh38] ChrX:148048504 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:147625478-148258048)x3 | copy number gain | not provided [RCV001258421] | ChrX:147625478..148258048 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1210+1G>A | single nucleotide variant | Inborn genetic diseases [RCV001267507] | ChrX:148843003 [GRCh38] ChrX:147924527 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_002025.4(AFF2):c.2792G>A (p.Ser931Asn) | single nucleotide variant | FRAXE [RCV003135911]|Inborn genetic diseases [RCV001267551] | ChrX:148962816 [GRCh38] ChrX:148044346 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3346G>A (p.Asp1116Asn) | single nucleotide variant | Inborn genetic diseases [RCV001266129] | ChrX:148973549 [GRCh38] ChrX:148055079 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1660G>A (p.Glu554Lys) | single nucleotide variant | Inborn genetic diseases [RCV001266844] | ChrX:148955705 [GRCh38] ChrX:148037235 [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 |
NM_002025.4(AFF2):c.2558G>A (p.Arg853His) | single nucleotide variant | FRAXE [RCV001262382] | ChrX:148956603 [GRCh38] ChrX:148038133 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 | copy number gain | See cases [RCV001263024] | ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_002025.4(AFF2):c.3815-5T>C | single nucleotide variant | not provided [RCV001350197] | ChrX:148991206 [GRCh38] ChrX:148072736 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2903T>C (p.Ile968Thr) | single nucleotide variant | not provided [RCV001280737] | ChrX:148962927 [GRCh38] ChrX:148044457 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp) | single nucleotide variant | FRAXE [RCV001330676]|not provided [RCV003438745] | ChrX:148953649 [GRCh38] ChrX:148035179 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser) | single nucleotide variant | FRAXE [RCV001330677] | ChrX:148966886 [GRCh38] ChrX:148048416 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3267+5G>C | single nucleotide variant | not provided [RCV001372104]|not specified [RCV003226462] | ChrX:148967697 [GRCh38] ChrX:148049227 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 | copy number gain | not provided [RCV001281359] | ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp) | single nucleotide variant | Premature ovarian failure [RCV001270244] | ChrX:148967079 [GRCh38] ChrX:148048609 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_002025.4(AFF2):c.1285C>G (p.Leu429Val) | single nucleotide variant | not provided [RCV001371274] | ChrX:148885911 [GRCh38] ChrX:147967441 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.1-28(chrX:139484271-149442579)x1 | copy number loss | not provided [RCV001537895] | ChrX:139484271..149442579 [GRCh37] ChrX:Xq27.1-28 |
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 |
Single allele | deletion | Suleiman-El-Hattab syndrome [RCV002247741] | ChrX:148448719..148525875 [GRCh38] ChrX:Xq28 |
pathogenic |
NM_002025.4(AFF2):c.-458CGC[6] | microsatellite | not specified [RCV002246946] | ChrX:148500638..148500664 [GRCh38] ChrX:147582158..147582184 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3164G>A (p.Ser1055Asn) | single nucleotide variant | FRAXE [RCV002273352] | ChrX:148967040 [GRCh38] ChrX:148048570 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1016A>T (p.Lys339Met) | single nucleotide variant | not provided [RCV003238525] | ChrX:148662743 [GRCh38] ChrX:147744264 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_002025.4(AFF2):c.2568+5_2568+13del | deletion | not provided [RCV001754819] | ChrX:148956615..148956623 [GRCh38] ChrX:148038145..148038153 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1129A>G (p.Thr377Ala) | single nucleotide variant | Inborn genetic diseases [RCV002543959]|not provided [RCV001751911] | ChrX:148837689 [GRCh38] ChrX:147919213 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1487C>T (p.Ser496Leu) | single nucleotide variant | Inborn genetic diseases [RCV004040171]|not provided [RCV001772820] | ChrX:148953669 [GRCh38] ChrX:148035199 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.803A>G (p.Gln268Arg) | single nucleotide variant | not provided [RCV001773010] | ChrX:148662530 [GRCh38] ChrX:147744051 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3482G>A (p.Arg1161Gln) | single nucleotide variant | not provided [RCV001767500] | ChrX:148978367 [GRCh38] ChrX:148059897 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1 | copy number loss | Mucopolysaccharidosis, MPS-II [RCV001733885] | ChrX:145728205..150464413 [GRCh38] ChrX:Xq27.3-28 |
pathogenic |
NM_002025.4(AFF2):c.443T>G (p.Leu148Arg) | single nucleotide variant | not provided [RCV001774426] | ChrX:148662170 [GRCh38] ChrX:147743691 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2086A>G (p.Lys696Glu) | single nucleotide variant | not provided [RCV001751871] | ChrX:148956131 [GRCh38] ChrX:148037661 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2056C>T (p.Pro686Ser) | single nucleotide variant | not provided [RCV001765113] | ChrX:148956101 [GRCh38] ChrX:148037631 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.256A>C (p.Thr86Pro) | single nucleotide variant | not provided [RCV001752213] | ChrX:148661983 [GRCh38] ChrX:147743504 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2219G>T (p.Gly740Val) | single nucleotide variant | not provided [RCV001752650] | ChrX:148956264 [GRCh38] ChrX:148037794 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2614G>C (p.Glu872Gln) | single nucleotide variant | FRAXE [RCV003120667]|not provided [RCV001770569] | ChrX:148958382 [GRCh38] ChrX:148039912 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.359A>G (p.Asn120Ser) | single nucleotide variant | not provided [RCV001768730] | ChrX:148662086 [GRCh38] ChrX:147743607 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.148C>A (p.Leu50Ile) | single nucleotide variant | not provided [RCV001774384] | ChrX:148652099 [GRCh38] ChrX:147733620 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3046A>C (p.Thr1016Pro) | single nucleotide variant | not provided [RCV001752763] | ChrX:148966922 [GRCh38] ChrX:148048452 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq28(chrX:147458752-147628024) | copy number loss | FRAXE [RCV002280689] | ChrX:147458752..147628024 [GRCh37] ChrX:Xq28 |
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_002025.4(AFF2):c.3481C>T (p.Arg1161Ter) | single nucleotide variant | FRAXE [RCV001794859] | ChrX:148978366 [GRCh38] ChrX:148059896 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_002025.4(AFF2):c.3693C>T (p.Gly1231=) | single nucleotide variant | not provided [RCV001796922]|not specified [RCV001794982] | ChrX:148987436 [GRCh38] ChrX:148068966 [GRCh37] ChrX:Xq28 |
benign|likely benign |
NM_002025.4(AFF2):c.1210+4A>G | single nucleotide variant | not provided [RCV001754818] | ChrX:148843006 [GRCh38] ChrX:147924530 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2082G>T (p.Lys694Asn) | single nucleotide variant | not provided [RCV001815991] | ChrX:148956127 [GRCh38] ChrX:148037657 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1034C>T (p.Thr345Ile) | single nucleotide variant | not specified [RCV001817273] | ChrX:148662761 [GRCh38] ChrX:147744282 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2885G>A (p.Cys962Tyr) | single nucleotide variant | FRAXE [RCV001806362] | ChrX:148962909 [GRCh38] ChrX:148044439 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_002025.4(AFF2):c.303T>C (p.Ser101=) | single nucleotide variant | AFF2-related disorder [RCV003956392]|not specified [RCV001822236] | ChrX:148662030 [GRCh38] ChrX:147743551 [GRCh37] ChrX:Xq28 |
benign |
NM_002025.4(AFF2):c.3138G>A (p.Ala1046=) | single nucleotide variant | not provided [RCV003434324]|not specified [RCV001819296] | ChrX:148967014 [GRCh38] ChrX:148048544 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | not provided [RCV001829212] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xq28(chrX:147573612-147620560) | copy number loss | not specified [RCV002053198] | ChrX:147573612..147620560 [GRCh37] ChrX:Xq28 |
pathogenic |
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 Xq28(chrX:147573781-147628228) | copy number loss | not specified [RCV002053199] | ChrX:147573781..147628228 [GRCh37] ChrX:Xq28 |
likely pathogenic |
GRCh37/hg19 Xq28(chrX:147516497-147652015) | copy number loss | not specified [RCV002053197] | ChrX:147516497..147652015 [GRCh37] ChrX:Xq28 |
pathogenic |
Single allele | duplication | Syndromic X-linked intellectual disability Lubs type [RCV001839062] | ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq27.3-28(chrX:146752853-150192253) | copy number loss | not specified [RCV002053195] | ChrX:146752853..150192253 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
NM_002025.4(AFF2):c.48-60738G>C | single nucleotide variant | FRAXE [RCV002227683] | ChrX:148591261 [GRCh38] ChrX:147672782 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.95G>A (p.Arg32Gln) | single nucleotide variant | not provided [RCV002221718] | uncertain significance | |
NM_002025.4(AFF2):c.3776A>T (p.His1259Leu) | single nucleotide variant | not provided [RCV004777200] | ChrX:148987519 [GRCh38] ChrX:148069049 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.511G>C (p.Ala171Pro) | single nucleotide variant | not provided [RCV003109954] | ChrX:148662238 [GRCh38] ChrX:147743759 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2693A>G (p.Asn898Ser) | single nucleotide variant | not provided [RCV004778856] | ChrX:148962717 [GRCh38] ChrX:148044247 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.967C>T (p.Leu323Phe) | single nucleotide variant | FRAXE [RCV004789945] | ChrX:148662694 [GRCh38] ChrX:147744215 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1330A>G (p.Thr444Ala) | single nucleotide variant | AFF2-related disorder [RCV003954078]|Inborn genetic diseases [RCV003294666]|not provided [RCV003436010] | ChrX:148885956 [GRCh38] ChrX:147967486 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2113C>T (p.Pro705Ser) | single nucleotide variant | not provided [RCV003152142] | ChrX:148956158 [GRCh38] ChrX:148037688 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2330C>T (p.Thr777Ile) | single nucleotide variant | FRAXE [RCV003147849] | ChrX:148956375 [GRCh38] ChrX:148037905 [GRCh37] ChrX:Xq28 |
uncertain significance |
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_002025.4(AFF2):c.3167C>T (p.Thr1056Ile) | single nucleotide variant | not provided [RCV003234465] | ChrX:148967043 [GRCh38] ChrX:148048573 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) | copy number gain | Klinefelter syndrome [RCV003236730] | ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_002025.4(AFF2):c.670T>A (p.Ser224Thr) | single nucleotide variant | not provided [RCV003230080] | ChrX:148662397 [GRCh38] ChrX:147743918 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1228A>G (p.Thr410Ala) | single nucleotide variant | not provided [RCV003231960] | ChrX:148843399 [GRCh38] ChrX:147924923 [GRCh37] ChrX:Xq28 |
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_002025.4(AFF2):c.449A>G (p.His150Arg) | single nucleotide variant | not provided [RCV002281390] | ChrX:148662176 [GRCh38] ChrX:147743697 [GRCh37] ChrX:Xq28 |
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_002025.4(AFF2):c.791G>T (p.Gly264Val) | single nucleotide variant | not provided [RCV002291960] | ChrX:148662518 [GRCh38] ChrX:147744039 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 | copy number loss | See cases [RCV002292203] | ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28 |
pathogenic |
NM_002025.4(AFF2):c.3395A>G (p.Glu1132Gly) | single nucleotide variant | not provided [RCV002278917] | ChrX:148973598 [GRCh38] ChrX:148055128 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3739G>A (p.Val1247Ile) | single nucleotide variant | not provided [RCV002283312] | ChrX:148987482 [GRCh38] ChrX:148069012 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3163A>G (p.Ser1055Gly) | single nucleotide variant | FRAXE [RCV002287205] | ChrX:148967039 [GRCh38] ChrX:148048569 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2046A>G (p.Lys682=) | single nucleotide variant | Inborn genetic diseases [RCV002419994] | ChrX:148956091 [GRCh38] ChrX:148037621 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1738C>T (p.Pro580Ser) | single nucleotide variant | FRAXE [RCV003148498] | ChrX:148955783 [GRCh38] ChrX:148037313 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1012C>A (p.Pro338Thr) | single nucleotide variant | FRAXE [RCV003225867] | ChrX:148662739 [GRCh38] ChrX:147744260 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.1-28(chrX:139493806-148855992)x1 | copy number loss | not provided [RCV002474516] | ChrX:139493806..148855992 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 | copy number loss | not provided [RCV002474567] | ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_002025.4(AFF2):c.2116A>G (p.Lys706Glu) | single nucleotide variant | FRAXE [RCV003148547] | ChrX:148956161 [GRCh38] ChrX:148037691 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2950A>G (p.Ile984Val) | single nucleotide variant | not provided [RCV002304089] | ChrX:148966826 [GRCh38] ChrX:148048356 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.164A>G (p.Tyr55Cys) | single nucleotide variant | not provided [RCV003230017] | ChrX:148652115 [GRCh38] ChrX:147733636 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.1-28(chrX:139504564-149382013)x2 | copy number gain | not provided [RCV002472498] | ChrX:139504564..149382013 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
NM_002025.4(AFF2):c.1444G>A (p.Gly482Arg) | single nucleotide variant | not provided [RCV002305037] | ChrX:148953626 [GRCh38] ChrX:148035156 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.27C>T (p.Asp9=) | single nucleotide variant | Inborn genetic diseases [RCV002441550] | ChrX:148501124 [GRCh38] ChrX:147582644 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1708A>G (p.Met570Val) | single nucleotide variant | not provided [RCV002305929] | ChrX:148955753 [GRCh38] ChrX:148037283 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2725G>A (p.Glu909Lys) | single nucleotide variant | not specified [RCV002308543] | ChrX:148962749 [GRCh38] ChrX:148044279 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1773C>T (p.Leu591=) | single nucleotide variant | Inborn genetic diseases [RCV002407672] | ChrX:148955818 [GRCh38] ChrX:148037348 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2278A>T (p.Met760Leu) | single nucleotide variant | not provided [RCV002306191] | ChrX:148956323 [GRCh38] ChrX:148037853 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.492T>C (p.His164=) | single nucleotide variant | Inborn genetic diseases [RCV002342629] | ChrX:148662219 [GRCh38] ChrX:147743740 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1795C>T (p.Arg599Trp) | single nucleotide variant | Inborn genetic diseases [RCV002779116] | ChrX:148955840 [GRCh38] ChrX:148037370 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2050C>T (p.Pro684Ser) | single nucleotide variant | Inborn genetic diseases [RCV002841006] | ChrX:148956095 [GRCh38] ChrX:148037625 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3313T>C (p.Ser1105Pro) | single nucleotide variant | not provided [RCV002461705] | ChrX:148973516 [GRCh38] ChrX:148055046 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.114G>T (p.Gln38His) | single nucleotide variant | Inborn genetic diseases [RCV002845449] | ChrX:148652065 [GRCh38] ChrX:147733586 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1169G>C (p.Gly390Ala) | single nucleotide variant | Inborn genetic diseases [RCV002691431] | ChrX:148837729 [GRCh38] ChrX:147919253 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3883C>T (p.Arg1295Cys) | single nucleotide variant | Inborn genetic diseases [RCV002692702] | ChrX:148991279 [GRCh38] ChrX:148072809 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2132T>C (p.Ile711Thr) | single nucleotide variant | Inborn genetic diseases [RCV002823396] | ChrX:148956177 [GRCh38] ChrX:148037707 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1397+5G>A | single nucleotide variant | Inborn genetic diseases [RCV002853952] | ChrX:148904263 [GRCh38] ChrX:147985793 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.243G>T (p.Met81Ile) | single nucleotide variant | not provided [RCV002508441] | ChrX:148661970 [GRCh38] ChrX:147743491 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3431C>A (p.Ala1144Glu) | single nucleotide variant | not provided [RCV002508445] | ChrX:148977959 [GRCh38] ChrX:148059489 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1811T>C (p.Ile604Thr) | single nucleotide variant | Inborn genetic diseases [RCV002788768] | ChrX:148955856 [GRCh38] ChrX:148037386 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2675C>T (p.Pro892Leu) | single nucleotide variant | Inborn genetic diseases [RCV002960929] | ChrX:148958443 [GRCh38] ChrX:148039973 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1877T>C (p.Ile626Thr) | single nucleotide variant | Inborn genetic diseases [RCV002808822] | ChrX:148955922 [GRCh38] ChrX:148037452 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.475T>C (p.Trp159Arg) | single nucleotide variant | Inborn genetic diseases [RCV002941479] | ChrX:148662202 [GRCh38] ChrX:147743723 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3712C>T (p.Arg1238Cys) | single nucleotide variant | Inborn genetic diseases [RCV002944484] | ChrX:148987455 [GRCh38] ChrX:148068985 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1675C>A (p.Pro559Thr) | single nucleotide variant | not provided [RCV003218878] | ChrX:148955720 [GRCh38] ChrX:148037250 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1945A>G (p.Asn649Asp) | single nucleotide variant | Inborn genetic diseases [RCV003193264] | ChrX:148955990 [GRCh38] ChrX:148037520 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2498C>A (p.Thr833Lys) | single nucleotide variant | Inborn genetic diseases [RCV003193461] | ChrX:148956543 [GRCh38] ChrX:148038073 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2820C>A (p.Asp940Glu) | single nucleotide variant | FRAXE [RCV003141238] | ChrX:148962844 [GRCh38] ChrX:148044374 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.511G>T (p.Ala171Ser) | single nucleotide variant | FRAXE [RCV003141239] | ChrX:148662238 [GRCh38] ChrX:147743759 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3017T>C (p.Val1006Ala) | single nucleotide variant | FRAXE [RCV003141240] | ChrX:148966893 [GRCh38] ChrX:148048423 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.412C>G (p.Pro138Ala) | single nucleotide variant | FRAXE [RCV003141241] | ChrX:148662139 [GRCh38] ChrX:147743660 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1292G>A (p.Ser431Asn) | single nucleotide variant | FRAXE [RCV003141242] | ChrX:148885918 [GRCh38] ChrX:147967448 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1735G>A (p.Val579Ile) | single nucleotide variant | FRAXE [RCV003141243] | ChrX:148955780 [GRCh38] ChrX:148037310 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3074C>T (p.Thr1025Ile) | single nucleotide variant | FRAXE [RCV003141244] | ChrX:148966950 [GRCh38] ChrX:148048480 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2637G>T (p.Leu879Phe) | single nucleotide variant | FRAXE [RCV003141237] | ChrX:148958405 [GRCh38] ChrX:148039935 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.811C>T (p.Pro271Ser) | single nucleotide variant | not provided [RCV003229357] | ChrX:148662538 [GRCh38] ChrX:147744059 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3220T>C (p.Tyr1074His) | single nucleotide variant | not provided [RCV003227101] | ChrX:148967645 [GRCh38] ChrX:148049175 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2473A>G (p.Lys825Glu) | single nucleotide variant | not provided [RCV003324918] | ChrX:148956518 [GRCh38] ChrX:148038048 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2185C>A (p.Gln729Lys) | single nucleotide variant | FRAXE [RCV004785225] | ChrX:148956230 [GRCh38] ChrX:148037760 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.31G>A (p.Asp11Asn) | single nucleotide variant | not provided [RCV003325807] | ChrX:148501128 [GRCh38] ChrX:147582648 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.230A>T (p.Asn77Ile) | single nucleotide variant | not provided [RCV003329959] | ChrX:148661957 [GRCh38] ChrX:147743478 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.251T>C (p.Leu84Ser) | single nucleotide variant | Inborn genetic diseases [RCV003357907]|not provided [RCV003436033] | ChrX:148661978 [GRCh38] ChrX:147743499 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1256T>C (p.Phe419Ser) | single nucleotide variant | not provided [RCV003332736] | ChrX:148843427 [GRCh38] ChrX:147924951 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2956G>A (p.Val986Ile) | single nucleotide variant | Inborn genetic diseases [RCV003376204] | ChrX:148966832 [GRCh38] ChrX:148048362 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.613C>A (p.Gln205Lys) | single nucleotide variant | Inborn genetic diseases [RCV003383073] | ChrX:148662340 [GRCh38] ChrX:147743861 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.317C>T (p.Pro106Leu) | single nucleotide variant | Inborn genetic diseases [RCV003373560] | ChrX:148662044 [GRCh38] ChrX:147743565 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2608C>T (p.Arg870Cys) | single nucleotide variant | Inborn genetic diseases [RCV003369364] | ChrX:148958376 [GRCh38] ChrX:148039906 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1992T>C (p.His664=) | single nucleotide variant | not provided [RCV003440009] | ChrX:148956037 [GRCh38] ChrX:148037567 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2171A>T (p.Gln724Leu) | single nucleotide variant | not provided [RCV003440010] | ChrX:148956216 [GRCh38] ChrX:148037746 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2351T>G (p.Met784Arg) | single nucleotide variant | AFF2-related disorder [RCV003908971]|not provided [RCV003440011] | ChrX:148956396 [GRCh38] ChrX:148037926 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 | copy number loss | not provided [RCV003483929] | ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 | copy number loss | not provided [RCV003483930] | ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
NM_002025.4(AFF2):c.2719A>G (p.Arg907Gly) | single nucleotide variant | not provided [RCV003457624] | ChrX:148962743 [GRCh38] ChrX:148044273 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1692A>G (p.Gln564=) | single nucleotide variant | not provided [RCV003440006] | ChrX:148955737 [GRCh38] ChrX:148037267 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.-458CGC[7] | microsatellite | not provided [RCV003439999] | ChrX:148500638..148500661 [GRCh38] ChrX:147582158..147582181 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.234T>C (p.Tyr78=) | single nucleotide variant | not provided [RCV003440000] | ChrX:148661961 [GRCh38] ChrX:147743482 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.864C>T (p.Tyr288=) | single nucleotide variant | not provided [RCV003440001] | ChrX:148662591 [GRCh38] ChrX:147744112 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1034C>A (p.Thr345Lys) | single nucleotide variant | not provided [RCV003440002] | ChrX:148662761 [GRCh38] ChrX:147744282 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1041+56413A>G | single nucleotide variant | not provided [RCV003440003] | ChrX:148719181 [GRCh38] ChrX:147800705 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1041+56438C>T | single nucleotide variant | not provided [RCV003440004] | ChrX:148719206 [GRCh38] ChrX:147800730 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1160C>A (p.Ser387Tyr) | single nucleotide variant | not provided [RCV003440005] | ChrX:148837720 [GRCh38] ChrX:147919244 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1041+56452_1041+56454del | microsatellite | AFF2-related disorder [RCV003406185] | ChrX:148719216..148719218 [GRCh38] ChrX:147800740..147800742 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3242A>G (p.Lys1081Arg) | single nucleotide variant | FRAXE [RCV003388284] | ChrX:148967667 [GRCh38] ChrX:148049197 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234) | copy number gain | Mucopolysaccharidosis, MPS-II [RCV003448583] | ChrX:143293592..149749234 [GRCh38] ChrX:Xq27.3-28 |
uncertain significance |
NM_002025.4(AFF2):c.1861G>A (p.Val621Met) | single nucleotide variant | not provided [RCV003440007] | ChrX:148955906 [GRCh38] ChrX:148037436 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1871G>A (p.Arg624Lys) | single nucleotide variant | not provided [RCV003440008] | ChrX:148955916 [GRCh38] ChrX:148037446 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2601G>A (p.Lys867=) | single nucleotide variant | not provided [RCV003440012] | ChrX:148958369 [GRCh38] ChrX:148039899 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2906C>T (p.Ser969Leu) | single nucleotide variant | not provided [RCV003440013] | ChrX:148962930 [GRCh38] ChrX:148044460 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2935G>C (p.Ala979Pro) | single nucleotide variant | not provided [RCV003432493] | ChrX:148966811 [GRCh38] ChrX:148048341 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3872C>T (p.Thr1291Ile) | single nucleotide variant | not provided [RCV003432494] | ChrX:148991268 [GRCh38] ChrX:148072798 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2459A>G (p.His820Arg) | single nucleotide variant | AFF2-related disorder [RCV003393125] | ChrX:148956504 [GRCh38] ChrX:148038034 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2091C>T (p.Tyr697=) | single nucleotide variant | not provided [RCV004812016] | ChrX:148956136 [GRCh38] ChrX:148037666 [GRCh37] ChrX:Xq28 |
likely benign |
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 |
GRCh37/hg19 Xq28(chrX:148080513-148084213) | copy number loss | not specified [RCV003986237] | ChrX:148080513..148084213 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq27.3-28(chrX:144487227-148811395) | copy number gain | not specified [RCV003986281] | ChrX:144487227..148811395 [GRCh37] ChrX:Xq27.3-28 |
likely pathogenic |
NM_002025.4(AFF2):c.2641C>T (p.Pro881Ser) | single nucleotide variant | FRAXE [RCV003989381] | ChrX:148958409 [GRCh38] ChrX:148039939 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2913+3A>C | single nucleotide variant | FRAXE [RCV004515765] | ChrX:148962940 [GRCh38] ChrX:148044470 [GRCh37] ChrX:Xq28 |
uncertain significance |
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 | copy number loss | See cases [RCV004442781] | ChrX:125253445..155233098 [GRCh37] ChrX:Xq25-28 |
pathogenic |
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 | copy number loss | not provided [RCV004442761] | ChrX:121656905..155233098 [GRCh37] ChrX:Xq25-28 |
pathogenic |
NM_002025.4(AFF2):c.3814+1G>T | single nucleotide variant | not provided [RCV003887388] | ChrX:148987558 [GRCh38] ChrX:148069088 [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_002025.4(AFF2):c.1287G>T (p.Leu429=) | single nucleotide variant | AFF2-related disorder [RCV003909311] | ChrX:148885913 [GRCh38] ChrX:147967443 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3543C>T (p.Tyr1181=) | single nucleotide variant | AFF2-related disorder [RCV003934284] | ChrX:148978428 [GRCh38] ChrX:148059958 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.891G>A (p.Gln297=) | single nucleotide variant | AFF2-related disorder [RCV003949535] | ChrX:148662618 [GRCh38] ChrX:147744139 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1803T>A (p.Thr601=) | single nucleotide variant | not provided [RCV003886060] | ChrX:148955848 [GRCh38] ChrX:148037378 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3305C>T (p.Ala1102Val) | single nucleotide variant | not provided [RCV004554992] | ChrX:148973508 [GRCh38] ChrX:148055038 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3477-4A>G | single nucleotide variant | not provided [RCV003884019] | ChrX:148978358 [GRCh38] ChrX:148059888 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3033C>T (p.Thr1011=) | single nucleotide variant | AFF2-related disorder [RCV003904059] | ChrX:148966909 [GRCh38] ChrX:148048439 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2236T>C (p.Ser746Pro) | single nucleotide variant | Inborn genetic diseases [RCV004381341] | ChrX:148956281 [GRCh38] ChrX:148037811 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2777G>A (p.Arg926His) | single nucleotide variant | Inborn genetic diseases [RCV004381361] | ChrX:148962801 [GRCh38] ChrX:148044331 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.511G>A (p.Ala171Thr) | single nucleotide variant | Inborn genetic diseases [RCV004381407] | ChrX:148662238 [GRCh38] ChrX:147743759 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1117A>T (p.Thr373Ser) | single nucleotide variant | Inborn genetic diseases [RCV004381289] | ChrX:148837677 [GRCh38] ChrX:147919201 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2509C>T (p.Arg837Cys) | single nucleotide variant | not specified [RCV004527024] | ChrX:148956554 [GRCh38] ChrX:148038084 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.542T>C (p.Met181Thr) | single nucleotide variant | Inborn genetic diseases [RCV004381410] | ChrX:148662269 [GRCh38] ChrX:147743790 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1564C>T (p.Pro522Ser) | single nucleotide variant | Inborn genetic diseases [RCV004381313] | ChrX:148955609 [GRCh38] ChrX:148037139 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2987_2998del (p.Val996_Thr999del) | deletion | Inborn genetic diseases [RCV004381369] | ChrX:148966852..148966863 [GRCh38] ChrX:148048382..148048393 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3110G>T (p.Ser1037Ile) | single nucleotide variant | Inborn genetic diseases [RCV004381377] | ChrX:148966986 [GRCh38] ChrX:148048516 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.3550T>C (p.Ser1184Pro) | single nucleotide variant | Inborn genetic diseases [RCV004381391] | ChrX:148978435 [GRCh38] ChrX:148059965 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.475T>A (p.Trp159Arg) | single nucleotide variant | Inborn genetic diseases [RCV004381400] | ChrX:148662202 [GRCh38] ChrX:147743723 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.407T>C (p.Met136Thr) | single nucleotide variant | Inborn genetic diseases [RCV004381398] | ChrX:148662134 [GRCh38] ChrX:147743655 [GRCh37] ChrX:Xq28 |
likely benign |
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 | copy number gain | Klinefelter syndrome [RCV004579655] | ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28 |
pathogenic |
NM_002025.4(AFF2):c.3618_3619insA (p.Gly1207fs) | insertion | Inborn genetic diseases [RCV004617647] | ChrX:148980785..148980786 [GRCh38] ChrX:148062315..148062316 [GRCh37] ChrX:Xq28 |
pathogenic |
NM_002025.4(AFF2):c.2702C>T (p.Ser901Phe) | single nucleotide variant | not provided [RCV004585738] | ChrX:148962726 [GRCh38] ChrX:148044256 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1262+1G>A | single nucleotide variant | not provided [RCV004573117] | ChrX:148843434 [GRCh38] ChrX:147924958 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_002025.4(AFF2):c.3046A>T (p.Thr1016Ser) | single nucleotide variant | Inborn genetic diseases [RCV004617657] | ChrX:148966922 [GRCh38] ChrX:148048452 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3497T>C (p.Leu1166Pro) | single nucleotide variant | not provided [RCV004585748] | ChrX:148978382 [GRCh38] ChrX:148059912 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2003G>A (p.Arg668Lys) | single nucleotide variant | not specified [RCV004586054] | ChrX:148956048 [GRCh38] ChrX:148037578 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3128C>T (p.Thr1043Met) | single nucleotide variant | not provided [RCV004573103] | ChrX:148967004 [GRCh38] ChrX:148048534 [GRCh37] ChrX:Xq28 |
likely pathogenic |
NM_002025.4(AFF2):c.1558C>T (p.Pro520Ser) | single nucleotide variant | Inborn genetic diseases [RCV004617636] | ChrX:148955603 [GRCh38] ChrX:148037133 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1007A>G (p.Lys336Arg) | single nucleotide variant | Inborn genetic diseases [RCV004617686] | ChrX:148662734 [GRCh38] ChrX:147744255 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.865G>A (p.Val289Ile) | single nucleotide variant | Inborn genetic diseases [RCV004617628] | ChrX:148662592 [GRCh38] ChrX:147744113 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1415C>G (p.Pro472Arg) | single nucleotide variant | Inborn genetic diseases [RCV004617676] | ChrX:148953597 [GRCh38] ChrX:148035127 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2549A>G (p.Lys850Arg) | single nucleotide variant | not specified [RCV004703116] | ChrX:148956594 [GRCh38] ChrX:148038124 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1444G>C (p.Gly482Arg) | single nucleotide variant | not provided [RCV004722737] | ChrX:148953626 [GRCh38] ChrX:148035156 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.1262C>T (p.Ser421Leu) | single nucleotide variant | not provided [RCV004772391] | ChrX:148843433 [GRCh38] ChrX:147924957 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2504C>G (p.Pro835Arg) | single nucleotide variant | not provided [RCV004763900] | uncertain significance | |
NC_000023.10:g.(?_54610638)_(154689386_?)dup | duplication | Hereditary factor VIII deficiency disease [RCV004768478] | ChrX:54610638..154689386 [GRCh37] ChrX:Xp11.22-q28 |
uncertain significance |
NM_002025.4(AFF2):c.1942C>T (p.Pro648Ser) | single nucleotide variant | not provided [RCV004781292] | ChrX:148955987 [GRCh38] ChrX:148037517 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.142T>C (p.Phe48Leu) | single nucleotide variant | not provided [RCV004764108] | uncertain significance | |
NM_002025.4(AFF2):c.1078A>G (p.Ile360Val) | single nucleotide variant | AFF2-related disorder [RCV004730391] | ChrX:148809912 [GRCh38] ChrX:147891436 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.2824A>G (p.Asn942Asp) | single nucleotide variant | FRAXE [RCV004771786] | ChrX:148962848 [GRCh38] ChrX:148044378 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.297G>C (p.Lys99Asn) | single nucleotide variant | not provided [RCV004762833] | uncertain significance | |
NM_002025.4(AFF2):c.2059A>G (p.Asn687Asp) | single nucleotide variant | AFF2-related disorder [RCV004731957] | ChrX:148956104 [GRCh38] ChrX:148037634 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1123A>G (p.Met375Val) | single nucleotide variant | not provided [RCV004763158] | uncertain significance | |
NM_002025.4(AFF2):c.3085A>G (p.Thr1029Ala) | single nucleotide variant | not provided [RCV004768143] | ChrX:148966961 [GRCh38] ChrX:148048491 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.1651A>G (p.Thr551Ala) | single nucleotide variant | not provided [RCV004762357] | uncertain significance | |
NM_002025.4(AFF2):c.3298G>A (p.Ala1100Thr) | single nucleotide variant | not provided [RCV004769869] | ChrX:148973501 [GRCh38] ChrX:148055031 [GRCh37] ChrX:Xq28 |
uncertain significance |
NM_002025.4(AFF2):c.3345C>T (p.Arg1115=) | single nucleotide variant | AFF2-related disorder [RCV004755256] | ChrX:148973548 [GRCh38] ChrX:148055078 [GRCh37] ChrX:Xq28 |
likely benign |
NM_002025.4(AFF2):c.2533G>A (p.Glu845Lys) | single nucleotide variant | not provided [RCV004760964] | uncertain significance | |
NM_002025.4(AFF2):c.1181A>G (p.Gln394Arg) | single nucleotide variant | not provided [RCV004761351] | uncertain significance | |
NM_002025.4(AFF2):c.2921A>T (p.Asp974Val) | single nucleotide variant | not provided [RCV004764251] | 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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
DXS8091 |
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SHGC-7435 |
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RH18451 |
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DXS7394 |
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RH45213 |
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DXS1318 |
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DXS7812 |
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UniSTS:99231 |
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RH120439 |
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RH119837 |
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DXS1691 |
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DXS6687 |
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GDB:215331 |
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AFM323YF1 |
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Xq4086 |
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Xq4087 |
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RH70649 |
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DXS8273 |
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DXS8272 |
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DXS6729 |
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WI-14955 |
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RH66769 |
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AFF2 |
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adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2271 | 2698 | 2216 | 4897 | 1528 | 2008 | 6 | 434 | 1716 | 272 | 2239 | 6543 | 6168 | 27 | 3687 | 767 | 1649 | 1471 | 166 | 1 |
Ensembl Acc Id: | ENST00000286437 ⟹ ENSP00000286437 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000342251 ⟹ ENSP00000345459 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000370457 ⟹ ENSP00000359486 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000370458 ⟹ ENSP00000359487 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000370460 ⟹ ENSP00000359489 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000671877 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000673378 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001169122 ⟹ NP_001162593 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001169123 ⟹ NP_001162594 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001169124 ⟹ NP_001162595 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001169125 ⟹ NP_001162596 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001170628 ⟹ NP_001164099 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_002025 ⟹ NP_002016 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NP_002016 ⟸ NM_002025 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P51816 (UniProtKB/Swiss-Prot), Q7Z400 (UniProtKB/Swiss-Prot), Q7Z2F7 (UniProtKB/Swiss-Prot), Q14323 (UniProtKB/Swiss-Prot), Q13521 (UniProtKB/Swiss-Prot), P78407 (UniProtKB/Swiss-Prot), O60215 (UniProtKB/Swiss-Prot), O43786 (UniProtKB/Swiss-Prot), B7ZLD9 (UniProtKB/Swiss-Prot), B7ZLD6 (UniProtKB/Swiss-Prot), B7WNQ1 (UniProtKB/Swiss-Prot), B4DXD5 (UniProtKB/Swiss-Prot), A2RTY4 (UniProtKB/Swiss-Prot), Q9UNA5 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001162595 ⟸ NM_001169124 |
- Peptide Label: | isoform 4 |
- UniProtKB: | P51816 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001162594 ⟸ NM_001169123 |
- Peptide Label: | isoform 3 |
- UniProtKB: | P51816 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001162593 ⟸ NM_001169122 |
- Peptide Label: | isoform 2 |
- UniProtKB: | P51816 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001162596 ⟸ NM_001169125 |
- Peptide Label: | isoform 5 |
- UniProtKB: | P51816 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001164099 ⟸ NM_001170628 |
- Peptide Label: | isoform 6 |
- UniProtKB: | P51816 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000359486 ⟸ ENST00000370457 |
Ensembl Acc Id: | ENSP00000359487 ⟸ ENST00000370458 |
Ensembl Acc Id: | ENSP00000359489 ⟸ ENST00000370460 |
Ensembl Acc Id: | ENSP00000286437 ⟸ ENST00000286437 |
Ensembl Acc Id: | ENSP00000345459 ⟸ ENST00000342251 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P51816-F1-model_v2 | AlphaFold | P51816 | 1-1311 | view protein structure |
RGD ID: | 6808486 | ||||||||
Promoter ID: | HG_KWN:68357 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, NB4 | ||||||||
Transcripts: | ENST00000342251, ENST00000370460, NM_001169124, OTTHUMT00000058672, UC004FCO.2, UC004FCQ.1, UC004FCR.1, UC004FCS.1 | ||||||||
Position: |
|
RGD ID: | 13628296 | ||||||||
Promoter ID: | EPDNEW_H29424 | ||||||||
Type: | initiation region | ||||||||
Name: | AFF2_2 | ||||||||
Description: | AF4/FMR2 family member 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H29423 EPDNEW_H29425 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 13628300 | ||||||||
Promoter ID: | EPDNEW_H29425 | ||||||||
Type: | initiation region | ||||||||
Name: | AFF2_1 | ||||||||
Description: | AF4/FMR2 family member 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H29424 EPDNEW_H29423 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:3776 | AgrOrtholog |
COSMIC | AFF2 | COSMIC |
Ensembl Genes | ENSG00000155966 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000286437 | ENTREZGENE |
ENST00000286437.7 | UniProtKB/Swiss-Prot | |
ENST00000342251 | ENTREZGENE | |
ENST00000342251.7 | UniProtKB/Swiss-Prot | |
ENST00000370457 | ENTREZGENE | |
ENST00000370457.9 | UniProtKB/Swiss-Prot | |
ENST00000370458.5 | UniProtKB/Swiss-Prot | |
ENST00000370460 | ENTREZGENE | |
ENST00000370460.7 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 6.10.250.2670 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000155966 | GTEx |
HGNC ID | HGNC:3776 | ENTREZGENE |
Human Proteome Map | AFF2 | Human Proteome Map |
InterPro | AF4/FMR2_C | UniProtKB/Swiss-Prot |
AF4_int | UniProtKB/Swiss-Prot | |
TF_AF4/FMR2 | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:2334 | UniProtKB/Swiss-Prot |
NCBI Gene | 2334 | ENTREZGENE |
OMIM | 300806 | OMIM |
PANTHER | AF4/FMR2 FAMILY MEMBER 2 | UniProtKB/Swiss-Prot |
PTHR10528 | UniProtKB/Swiss-Prot | |
Pfam | AF-4 | UniProtKB/Swiss-Prot |
AF-4_C | UniProtKB/Swiss-Prot | |
AF4_int | UniProtKB/Swiss-Prot | |
PharmGKB | PA28192 | PharmGKB |
UniProt | A2RTY4 | ENTREZGENE |
AFF2_HUMAN | UniProtKB/Swiss-Prot | |
B4DXD5 | ENTREZGENE | |
B7WNQ1 | ENTREZGENE | |
B7ZLD6 | ENTREZGENE | |
B7ZLD9 | ENTREZGENE | |
O43786 | ENTREZGENE | |
O60215 | ENTREZGENE | |
P51816 | ENTREZGENE | |
P78407 | ENTREZGENE | |
Q13521 | ENTREZGENE | |
Q14323 | ENTREZGENE | |
Q7Z2F7 | ENTREZGENE | |
Q7Z400 | ENTREZGENE | |
Q9UNA5 | ENTREZGENE | |
UniProt Secondary | A2RTY4 | UniProtKB/Swiss-Prot |
B4DXD5 | UniProtKB/Swiss-Prot | |
B7WNQ1 | UniProtKB/Swiss-Prot | |
B7ZLD6 | UniProtKB/Swiss-Prot | |
B7ZLD9 | UniProtKB/Swiss-Prot | |
O43786 | UniProtKB/Swiss-Prot | |
O60215 | UniProtKB/Swiss-Prot | |
P78407 | UniProtKB/Swiss-Prot | |
Q13521 | UniProtKB/Swiss-Prot | |
Q14323 | UniProtKB/Swiss-Prot | |
Q7Z2F7 | UniProtKB/Swiss-Prot | |
Q7Z400 | UniProtKB/Swiss-Prot | |
Q9UNA5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2022-06-20 | AFF2 | ALF transcription elongation factor 2 | AFF2 | AF4/FMR2 family member 2 | Symbol and/or name change | 19259463 | PROVISIONAL |
2017-08-16 | AFF2 | AF4/FMR2 family member 2 | FRAXE | fragile site, folic acid type, rare, fra(X)(q28) | Data merged from RGD:1347191 | 737654 | PROVISIONAL |
2015-11-24 | AFF2 | AF4/FMR2 family member 2 | AFF2 | AF4/FMR2 family, member 2 | Symbol and/or name change | 5135510 | APPROVED |