NM_001123385.2(BCOR):c.2287C>T (p.Arg763Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004021021]|not provided [RCV000254917] |
ChrX:40073059 [GRCh38] ChrX:39932312 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) |
indel |
Microphthalmia, syndromic 1 [RCV002507270]|Oculofaciocardiodental syndrome [RCV001088553]|not provided [RCV000722304] |
ChrX:40072922..40072923 [GRCh38] ChrX:39932175..39932176 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|uncertain significance |
NM_001123385.2(BCOR):c.221G>A (p.Arg74His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003509558]|not provided [RCV000519315] |
ChrX:40075125 [GRCh38] ChrX:39934378 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2691G>C (p.Ser897=) |
single nucleotide variant |
BCOR-related disorder [RCV004547803]|Oculofaciocardiodental syndrome [RCV000640960] |
ChrX:40072655 [GRCh38] ChrX:39931908 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.1848C>T (p.Gly616=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000556882] |
ChrX:40073498 [GRCh38] ChrX:39932751 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000558239] |
ChrX:40072927 [GRCh38] ChrX:39932180 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3712_3729del (p.Thr1238_Pro1243del) |
deletion |
not provided [RCV000722894] |
ChrX:40063726..40063743 [GRCh38] ChrX:39922979..39922996 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3036C>T (p.Pro1012=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000549868] |
ChrX:40071652 [GRCh38] ChrX:39930905 [GRCh37] ChrX:Xp11.4 |
benign |
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_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000550235] |
ChrX:40073180 [GRCh38] ChrX:39932433 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5037A>T (p.Ile1679=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000553963] |
ChrX:40052340 [GRCh38] ChrX:39911593 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000011658]|not provided [RCV001545250] |
ChrX:40075092 [GRCh38] ChrX:39934345 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4174-1G>T |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000011659] |
ChrX:40062394 [GRCh38] ChrX:39921647 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000011660] |
ChrX:40072420 [GRCh38] ChrX:39931673 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3983del (p.Gln1328fs) |
deletion |
Oculofaciocardiodental syndrome [RCV000011661] |
ChrX:40062936 [GRCh38] ChrX:39922189 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NC_000023.11:g.(40012195_40051245)_(40063072_40063607)del |
deletion |
Oculofaciocardiodental syndrome [RCV000011662] |
ChrX:40051245..40063072 [GRCh38] ChrX:Xp11.4 |
pathogenic |
BCOR, 2-BP DEL, 2488AG |
deletion |
Oculofaciocardiodental syndrome [RCV000011663] |
ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3286del (p.Glu1096fs) |
deletion |
Oculofaciocardiodental syndrome [RCV000011664] |
ChrX:40064552 [GRCh38] ChrX:39923805 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NG_008880.1:g.(5324_84863)_?del |
deletion |
Oculofaciocardiodental syndrome [RCV000011665] |
ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2613del (p.Phe871fs) |
deletion |
Oculofaciocardiodental syndrome [RCV000011666] |
ChrX:40072733 [GRCh38] ChrX:39931986 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 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 Xp22.33-11.22(chrX:10679-52809182)x1 |
copy number loss |
See cases [RCV000051026] |
ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 |
copy number gain |
See cases [RCV000052328] |
ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 |
copy number loss |
See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 |
copy number loss |
See cases [RCV000052981] |
ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 |
copy number loss |
See cases [RCV000052990] |
ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 |
copy number loss |
See cases [RCV000053007] |
ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 |
copy number loss |
See cases [RCV000052994] |
ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] |
ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.4(chrX:39666120-40255787)x2 |
copy number gain |
See cases [RCV000054167] |
ChrX:39666120..40255787 [GRCh38] ChrX:39525374..40115040 [GRCh37] ChrX:39410318..39999984 [NCBI36] ChrX:Xp11.4 |
uncertain significance |
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 |
copy number gain |
See cases [RCV000053817] |
ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001123385.2(BCOR):c.1155G>A (p.Ala385=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002055213]|not provided [RCV000081808] |
ChrX:40074191 [GRCh38] ChrX:39933444 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) |
single nucleotide variant |
Inborn genetic diseases [RCV002433591]|Oculofaciocardiodental syndrome [RCV000607441]|not provided [RCV001647061]|not specified [RCV000081809] |
ChrX:40074086 [GRCh38] ChrX:39933339 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316259]|Oculofaciocardiodental syndrome [RCV000472235]|not provided [RCV004703230]|not specified [RCV000081810] |
ChrX:40073696 [GRCh38] ChrX:39932949 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) |
single nucleotide variant |
Inborn genetic diseases [RCV002408610]|Oculofaciocardiodental syndrome [RCV000601319]|not provided [RCV001594831]|not specified [RCV000081811] |
ChrX:40073654 [GRCh38] ChrX:39932907 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001123385.2(BCOR):c.1791C>T (p.His597=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720930]|Oculofaciocardiodental syndrome [RCV000461713]|not provided [RCV000827068]|not specified [RCV000081812] |
ChrX:40073555 [GRCh38] ChrX:39932808 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) |
single nucleotide variant |
Microphthalmia, syndromic 1 [RCV000766092]|not provided [RCV000081813] |
ChrX:40073221 [GRCh38] ChrX:39932474 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3413T>C (p.Val1138Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001516966]|not specified [RCV000081814] |
ChrX:40064425 [GRCh38] ChrX:39923678 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|uncertain significance |
NM_001123385.2(BCOR):c.3468del (p.Leu1157fs) |
deletion |
not provided [RCV000081815] |
ChrX:40064370 [GRCh38] ChrX:39923623 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4173+5C>T |
single nucleotide variant |
not provided [RCV000081816] |
ChrX:40062741 [GRCh38] ChrX:39921994 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4977-4G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002316260]|Oculofaciocardiodental syndrome [RCV000612794]|not provided [RCV004713255]|not specified [RCV000081817] |
ChrX:40052404 [GRCh38] ChrX:39911657 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000720987]|Oculofaciocardiodental syndrome [RCV001079115]|not provided [RCV000828281]|not specified [RCV000116493] |
ChrX:40073567 [GRCh38] ChrX:39932820 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001123385.2(BCOR):c.11C>T (p.Ala4Val) |
single nucleotide variant |
not specified [RCV000120205] |
ChrX:40077919 [GRCh38] ChrX:39937172 [GRCh37] ChrX:Xp11.4 |
not provided |
NM_001123385.2(BCOR):c.1264A>G (p.Ser422Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003621504]|not specified [RCV000120206] |
ChrX:40074082 [GRCh38] ChrX:39933335 [GRCh37] ChrX:Xp11.4 |
uncertain significance|not provided |
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002514623]|Oculofaciocardiodental syndrome [RCV000535111]|not specified [RCV000120207] |
ChrX:40072392 [GRCh38] ChrX:39931645 [GRCh37] ChrX:Xp11.4 |
uncertain significance|not provided |
NM_001123385.2(BCOR):c.586A>C (p.Met196Leu) |
single nucleotide variant |
not specified [RCV000120208] |
ChrX:40074760 [GRCh38] ChrX:39934013 [GRCh37] ChrX:Xp11.4 |
not provided |
NM_001123385.2(BCOR):c.1016C>T (p.Pro339Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002515821]|not specified [RCV000120209] |
ChrX:40074330 [GRCh38] ChrX:39933583 [GRCh37] ChrX:Xp11.4 |
uncertain significance|not provided |
NM_001123385.2(BCOR):c.1448C>T (p.Pro483Leu) |
single nucleotide variant |
BCOR-related disorder [RCV004551183]|Oculofaciocardiodental syndrome [RCV001522695]|not specified [RCV000120210] |
ChrX:40073898 [GRCh38] ChrX:39933151 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|not provided |
NM_001123385.2(BCOR):c.1465C>T (p.Pro489Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004019668]|not specified [RCV000120211] |
ChrX:40073881 [GRCh38] ChrX:39933134 [GRCh37] ChrX:Xp11.4 |
uncertain significance|not provided |
NM_001123385.2(BCOR):c.2509C>G (p.Pro837Ala) |
single nucleotide variant |
not specified [RCV000120212] |
ChrX:40072837 [GRCh38] ChrX:39932090 [GRCh37] ChrX:Xp11.4 |
not provided |
NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004019669]|Oculofaciocardiodental syndrome [RCV000861482]|not provided [RCV001573019]|not specified [RCV000120213] |
ChrX:40074720 [GRCh38] ChrX:39933973 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|not provided |
NM_001123385.2(BCOR):c.2129G>A (p.Arg710His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000537612]|not provided [RCV004721264]|not specified [RCV000120214] |
ChrX:40073217 [GRCh38] ChrX:39932470 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|not provided |
NM_001123385.2(BCOR):c.305G>C (p.Arg102Pro) |
single nucleotide variant |
not specified [RCV000120215] |
ChrX:40075041 [GRCh38] ChrX:39934294 [GRCh37] ChrX:Xp11.4 |
not provided |
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile) |
single nucleotide variant |
Microphthalmia, syndromic 1 [RCV002505058]|Oculofaciocardiodental syndrome [RCV002514624]|not specified [RCV000120216] |
ChrX:40074937 [GRCh38] ChrX:39934190 [GRCh37] ChrX:Xp11.4 |
likely benign|not provided |
NM_001123385.2(BCOR):c.365T>C (p.Met122Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002515822]|not specified [RCV000120217] |
ChrX:40074981 [GRCh38] ChrX:39934234 [GRCh37] ChrX:Xp11.4 |
likely benign|not provided |
NM_001123385.2(BCOR):c.4766G>A (p.Arg1589His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001319723]|not specified [RCV000120218] |
ChrX:40054309 [GRCh38] ChrX:39913562 [GRCh37] ChrX:Xp11.4 |
uncertain significance|not provided |
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000640951]|not specified [RCV000120219] |
ChrX:40052143 [GRCh38] ChrX:39911396 [GRCh37] ChrX:Xp11.4 |
uncertain significance|not provided |
NM_001123385.2(BCOR):c.3440C>T (p.Thr1147Ile) |
single nucleotide variant |
not specified [RCV000120220] |
ChrX:40064398 [GRCh38] ChrX:39923651 [GRCh37] ChrX:Xp11.4 |
not provided |
NM_001123385.2(BCOR):c.3277G>A (p.Glu1093Lys) |
single nucleotide variant |
Developmental cataract [RCV000203411]|Inborn genetic diseases [RCV002444576]|Oculofaciocardiodental syndrome [RCV000864109]|not provided [RCV004721265]|not specified [RCV000120221] |
ChrX:40064561 [GRCh38] ChrX:39923814 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic|benign|likely benign|uncertain significance|not provided |
NM_001123385.2(BCOR):c.3802A>G (p.Arg1268Gly) |
single nucleotide variant |
BCOR-related disorder [RCV004551184]|Oculofaciocardiodental syndrome [RCV000862923]|not provided [RCV005051750]|not specified [RCV000120222] |
ChrX:40063653 [GRCh38] ChrX:39922906 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|uncertain significance|not provided |
NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002371954]|Oculofaciocardiodental syndrome [RCV000529058]|not provided [RCV004713312]|not specified [RCV000120223] |
ChrX:40062945 [GRCh38] ChrX:39922198 [GRCh37] ChrX:Xp11.4 |
benign|uncertain significance|not provided |
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001854597]|not provided [RCV003436934]|not specified [RCV000120224] |
ChrX:40062905 [GRCh38] ChrX:39922158 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance|not provided |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.4862dup (p.Gly1622fs) |
duplication |
not provided [RCV000174783] |
ChrX:40053999..40054000 [GRCh38] ChrX:39913252..39913253 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3512C>T (p.Pro1171Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001332842] |
ChrX:40063943 [GRCh38] ChrX:39923196 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 |
copy number loss |
See cases [RCV000133817] |
ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) |
single nucleotide variant |
BCOR-related disorder [RCV004552962]|Inborn genetic diseases [RCV002336422]|Oculofaciocardiodental syndrome [RCV001078522]|not provided [RCV000174383] |
ChrX:40055385 [GRCh38] ChrX:39914638 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 |
copy number loss |
See cases [RCV000133745] |
ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 |
copy number loss |
See cases [RCV000134568] |
ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 |
copy number loss |
See cases [RCV000134026] |
ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 |
copy number loss |
See cases [RCV000135305] |
ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp11.4(chrX:39842449-40117345)x2 |
copy number gain |
See cases [RCV000135380] |
ChrX:39842449..40117345 [GRCh38] ChrX:39701703..39976598 [GRCh37] ChrX:39586647..39861542 [NCBI36] ChrX:Xp11.4 |
uncertain significance |
GRCh38/hg38 Xp11.4(chrX:40165688-40662855)x2 |
copy number gain |
See cases [RCV000135289] |
ChrX:40165688..40662855 [GRCh38] ChrX:40024941..40522107 [GRCh37] ChrX:39909885..40407051 [NCBI36] ChrX:Xp11.4 |
likely pathogenic |
GRCh38/hg38 Xp11.4(chrX:40075793-40934203)x2 |
copy number gain |
See cases [RCV000134897] |
ChrX:40075793..40934203 [GRCh38] ChrX:39935046..40793456 [GRCh37] ChrX:39819990..40678400 [NCBI36] ChrX:Xp11.4 |
uncertain significance |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 |
copy number gain |
See cases [RCV000134957] |
ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 |
copy number loss |
See cases [RCV000137112] |
ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 |
copy number loss |
See cases [RCV000137430] |
ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 |
copy number loss |
See cases [RCV000137552] |
ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 |
copy number loss |
See cases [RCV000137413] |
ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 |
copy number loss |
See cases [RCV000137166] |
ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 |
copy number loss |
See cases [RCV000139343] |
ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 |
copy number loss |
See cases [RCV000140711] |
ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 |
copy number loss |
See cases [RCV000141741] |
ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 |
copy number loss |
See cases [RCV000142334] |
ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 |
copy number loss |
See cases [RCV000142035] |
ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 |
copy number loss |
See cases [RCV000143348] |
ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 |
copy number loss |
See cases [RCV000143130] |
ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.3052-14C>T |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002056021]|not provided [RCV000152857] |
ChrX:40071173 [GRCh38] ChrX:39930426 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001082929]|not provided [RCV000723847]|not specified [RCV000192633] |
ChrX:40072832 [GRCh38] ChrX:39932085 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.776C>A (p.Ser259Ter) |
single nucleotide variant |
not provided [RCV000152859] |
ChrX:40074570 [GRCh38] ChrX:39933823 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.711C>T (p.Val237=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000640958]|not provided [RCV000152860] |
ChrX:40074635 [GRCh38] ChrX:39933888 [GRCh37] ChrX:Xp11.4 |
benign|uncertain significance |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
NC_000023.11:g.(?_40051246)_(40075180_?)del |
deletion |
Oculofaciocardiodental syndrome [RCV000157080] |
ChrX:40051246..40075180 [GRCh38] ChrX:Xp11.4 |
pathogenic|not provided |
NM_001123385.2(BCOR):c.4742-141_4977-665del |
deletion |
Oculofaciocardiodental syndrome [RCV000157081] |
ChrX:40053065..40054474 [GRCh38] ChrX:39912318..39913727 [GRCh37] ChrX:Xp11.4 |
pathogenic|not provided |
NM_001123385.2(BCOR):c.86+9G>A |
single nucleotide variant |
not provided [RCV000175882] |
ChrX:40077835 [GRCh38] ChrX:39937088 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) |
deletion |
Oculofaciocardiodental syndrome [RCV000157082] |
ChrX:40062259..40062263 [GRCh38] ChrX:39921512..39921516 [GRCh37] ChrX:Xp11.4 |
pathogenic|not provided |
NM_001123385.2(BCOR):c.422C>T (p.Pro141Leu) |
single nucleotide variant |
not provided [RCV000178309] |
ChrX:40074924 [GRCh38] ChrX:39934177 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.837C>T (p.Leu279=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002054111]|not provided [RCV000178310] |
ChrX:40074509 [GRCh38] ChrX:39933762 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001467488]|not provided [RCV000178311] |
ChrX:40072436 [GRCh38] ChrX:39931689 [GRCh37] ChrX:Xp11.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.3446C>T (p.Ala1149Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001511859]|not provided [RCV000179954] |
ChrX:40064392 [GRCh38] ChrX:39923645 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001089286]|not provided [RCV000180342]|not specified [RCV001818443] |
ChrX:40063744 [GRCh38] ChrX:39922997 [GRCh37] ChrX:Xp11.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.519C>T (p.Ser173=) |
single nucleotide variant |
BCOR-related disorder [RCV004553052]|Oculofaciocardiodental syndrome [RCV002056984]|not provided [RCV003436984]|not specified [RCV000192690] |
ChrX:40074827 [GRCh38] ChrX:39934080 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV000721076]|Oculofaciocardiodental syndrome [RCV000640959]|not provided [RCV001727625]|not specified [RCV000192752] |
ChrX:40074938 [GRCh38] ChrX:39934191 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|uncertain significance |
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) |
single nucleotide variant |
BCOR-related disorder [RCV004553048]|Microphthalmia, syndromic 1 [RCV000625946]|Oculofaciocardiodental syndrome [RCV000640962]|not provided [RCV001726037]|not specified [RCV000193574] |
ChrX:40073311 [GRCh38] ChrX:39932564 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala) |
single nucleotide variant |
BCOR-related disorder [RCV004553049]|Oculofaciocardiodental syndrome [RCV002054256]|not specified [RCV000193700] |
ChrX:40064533 [GRCh38] ChrX:39923786 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) |
single nucleotide variant |
BCOR-related disorder [RCV004553050]|Oculofaciocardiodental syndrome [RCV002054257]|not provided [RCV000726646]|not specified [RCV000193769] |
ChrX:40062247 [GRCh38] ChrX:39921500 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.874G>T (p.Gly292Cys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003621518]|not specified [RCV000194087] |
ChrX:40074472 [GRCh38] ChrX:39933725 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2199G>T (p.Thr733=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000458663]|not specified [RCV000194233] |
ChrX:40073147 [GRCh38] ChrX:39932400 [GRCh37] ChrX:Xp11.4 |
benign|uncertain significance |
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=) |
single nucleotide variant |
BCOR-related disorder [RCV004553051]|Oculofaciocardiodental syndrome [RCV002517058]|not provided [RCV000862755]|not specified [RCV000194671] |
ChrX:40057262 [GRCh38] ChrX:39916515 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|uncertain significance |
NM_001123385.2(BCOR):c.4111C>T (p.Gln1371Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000198068] |
ChrX:40062808 [GRCh38] ChrX:39922061 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000544346] |
ChrX:40073566 [GRCh38] ChrX:39932819 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000548507]|not specified [RCV001355713] |
ChrX:40062969 [GRCh38] ChrX:39922222 [GRCh37] ChrX:Xp11.4 |
benign |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 |
copy number gain |
See cases [RCV000239834] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 |
copy number loss |
See cases [RCV000239814] |
ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001123385.2(BCOR):c.1136_1139del (p.Val379fs) |
deletion |
Developmental cataract [RCV000203315]|not provided [RCV002264918] |
ChrX:40074207..40074210 [GRCh38] ChrX:39933460..39933463 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4390_4393del (p.Glu1464fs) |
deletion |
Developmental cataract [RCV000203367] |
ChrX:40062174..40062177 [GRCh38] ChrX:39921427..39921430 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_017745.5(BCOR):c.-292-?_*863+?dup |
duplication |
Oculofaciocardiodental syndrome [RCV000231561] |
|
uncertain significance |
NM_001123385.2(BCOR):c.4936dup (p.Leu1646fs) |
duplication |
Oculofaciocardiodental syndrome [RCV003509523]|not provided [RCV000346544] |
ChrX:40053925..40053926 [GRCh38] ChrX:39913178..39913179 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3847+7G>C |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000226184]|not provided [RCV002284383] |
ChrX:40063601 [GRCh38] ChrX:39922854 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 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 |
NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.978G>A (p.Pro326=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000866101]|not specified [RCV000247129] |
ChrX:40074368 [GRCh38] ChrX:39933621 [GRCh37] ChrX:Xp11.4 |
likely benign |
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_001123385.2(BCOR):c.2008C>T (p.Pro670Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003509526]|not provided [RCV000726245] |
ChrX:40073338 [GRCh38] ChrX:39932591 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1084G>A (p.Ala362Thr) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005055815]|not provided [RCV000766547]|not specified [RCV000274732] |
ChrX:40074262 [GRCh38] ChrX:39933515 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3847+7G>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001078993]|not provided [RCV000383343] |
ChrX:40063601 [GRCh38] ChrX:39922854 [GRCh37] ChrX:Xp11.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.1214C>T (p.Pro405Leu) |
single nucleotide variant |
not provided [RCV000351822] |
ChrX:40074132 [GRCh38] ChrX:39933385 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2525T>C (p.Val842Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004965375]|Oculofaciocardiodental syndrome [RCV001089070]|not provided [RCV000324033] |
ChrX:40072821 [GRCh38] ChrX:39932074 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) |
microsatellite |
Glioblastoma [RCV000505675]|Inborn genetic diseases [RCV002365311]|not provided [RCV000400462] |
ChrX:40063035..40063036 [GRCh38] ChrX:39922288..39922289 [GRCh37] ChrX:Xp11.4 |
pathogenic|other |
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002328771]|Oculofaciocardiodental syndrome [RCV002518911]|not provided [RCV000261996] |
ChrX:40062309 [GRCh38] ChrX:39921562 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3108dup (p.Ala1037fs) |
duplication |
not provided [RCV000259523] |
ChrX:40071102..40071103 [GRCh38] ChrX:39930355..39930356 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3392G>T (p.Arg1131Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002528223]|not provided [RCV000488027] |
ChrX:40064446 [GRCh38] ChrX:39923699 [GRCh37] ChrX:Xp11.4 |
benign|uncertain significance |
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
NM_001123385.2(BCOR):c.3649C>T (p.Arg1217Ter) |
single nucleotide variant |
BCOR-related disorder [RCV001270855]|Oculofaciocardiodental syndrome [RCV001780229]|not provided [RCV001564185] |
ChrX:40063806 [GRCh38] ChrX:39923059 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3053G>C (p.Arg1018Pro) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002292715] |
ChrX:40071158 [GRCh38] ChrX:39930411 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623957]|not provided [RCV001268351] |
ChrX:40072918 [GRCh38] ChrX:39932171 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2389_2390del (p.Val797fs) |
deletion |
Oculofaciocardiodental syndrome [RCV001781142]|not provided [RCV004728815] |
ChrX:40072956..40072957 [GRCh38] ChrX:39932209..39932210 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001123385.2(BCOR):c.524_527del (p.Lys175fs) |
deletion |
not provided [RCV000627639] |
ChrX:40074819..40074822 [GRCh38] ChrX:39934072..39934075 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3267_3270dup (p.Pro1091Ter) |
duplication |
not provided [RCV000592512] |
ChrX:40064567..40064568 [GRCh38] ChrX:39923820..39923821 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2633T>C (p.Val878Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002529996] |
ChrX:40072713 [GRCh38] ChrX:39931966 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001087001]|not provided [RCV000592952] |
ChrX:40074999 [GRCh38] ChrX:39934252 [GRCh37] ChrX:Xp11.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs) |
insertion |
Adenoid cystic carcinoma [RCV000585787] |
ChrX:40074947..40074948 [GRCh38] ChrX:39934200..39934201 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs) |
deletion |
Adenoid cystic carcinoma [RCV000585738] |
ChrX:40054273..40054288 [GRCh38] ChrX:39913526..39913541 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.4443C>T (p.Tyr1481=) |
single nucleotide variant |
not provided [RCV000593865] |
ChrX:40057307 [GRCh38] ChrX:39916560 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4807A>C (p.Ser1603Arg) |
single nucleotide variant |
not provided [RCV000656236] |
ChrX:40054268 [GRCh38] ChrX:39913521 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.1293C>G (p.Thr431=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002067103]|not provided [RCV000729938] |
ChrX:40074053 [GRCh38] ChrX:39933306 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.3956C>T (p.Ala1319Val) |
single nucleotide variant |
not provided [RCV000733147] |
ChrX:40062963 [GRCh38] ChrX:39922216 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.1(BCOR):c.(3502+1_3503-1)_(4173+1_4174-1)del |
deletion |
Developmental cataract [RCV000416292] |
ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs) |
duplication |
Oculofaciocardiodental syndrome [RCV000528148] |
ChrX:40064449..40064450 [GRCh38] ChrX:39923702..39923703 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser) |
inversion |
Oculofaciocardiodental syndrome [RCV000531720] |
ChrX:40074085..40074086 [GRCh38] ChrX:39933338..39933339 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs) |
deletion |
BCOR-related disorder [RCV004553196]|Oculofaciocardiodental syndrome [RCV000538294] |
ChrX:40064427..40064428 [GRCh38] ChrX:39923680..39923681 [GRCh37] ChrX:Xp11.4 |
pathogenic|likely pathogenic |
NM_001123385.2(BCOR):c.4824A>C (p.Pro1608=) |
single nucleotide variant |
Inborn genetic diseases [RCV002341327]|Oculofaciocardiodental syndrome [RCV000539211]|not provided [RCV004714057] |
ChrX:40054038 [GRCh38] ChrX:39913291 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 |
copy number gain |
See cases [RCV000449393] |
ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr) |
single nucleotide variant |
Abnormal brain morphology [RCV000454264]|Oculofaciocardiodental syndrome [RCV003989531]|not specified [RCV002248664] |
ChrX:40062275 [GRCh38] ChrX:39921528 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 |
copy number loss |
See cases [RCV000446584] |
ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 |
copy number loss |
See cases [RCV000447092] |
ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 |
copy number loss |
See cases [RCV000447470] |
ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000640953]|not provided [RCV000442737] |
ChrX:40073143 [GRCh38] ChrX:39932396 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.1880A>G (p.Lys627Arg) |
single nucleotide variant |
not provided [RCV000438870] |
ChrX:40073466 [GRCh38] ChrX:39932719 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3268del (p.Asp1090fs) |
deletion |
Oculofaciocardiodental syndrome [RCV000505235] |
ChrX:40064570 [GRCh38] ChrX:39923823 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2978G>A (p.Arg993Gln) |
single nucleotide variant |
not provided [RCV000435637] |
ChrX:40072368 [GRCh38] ChrX:39931621 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 |
copy number loss |
See cases [RCV000446005] |
ChrX:36667388..44316141 [GRCh37] ChrX:Xp21.1-11.3 |
pathogenic |
NM_001123385.2(BCOR):c.3941C>A (p.Ala1314Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004601170]|not provided [RCV000440434] |
ChrX:40062978 [GRCh38] ChrX:39922231 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5174A>C (p.Asp1725Ala) |
single nucleotide variant |
not provided [RCV000430348] |
ChrX:40052203 [GRCh38] ChrX:39911456 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 |
copy number loss |
See cases [RCV000447773] |
ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.932AGC[1] (p.Gln312del) |
microsatellite |
Oculofaciocardiodental syndrome [RCV002063688]|not specified [RCV000479379] |
ChrX:40074409..40074411 [GRCh38] ChrX:39933662..39933664 [GRCh37] ChrX:Xp11.4 |
likely benign |
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
NM_001123385.2(BCOR):c.2647G>A (p.Val883Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV000623285]|Oculofaciocardiodental syndrome [RCV000475420] |
ChrX:40072699 [GRCh38] ChrX:39931952 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.2519C>T (p.Pro840Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002526652]|not provided [RCV000481232] |
ChrX:40072827 [GRCh38] ChrX:39932080 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.11:g.(?_40057155)_(40077969_?)del |
deletion |
Oculofaciocardiodental syndrome [RCV000472529] |
ChrX:40057155..40077969 [GRCh38] ChrX:39916408..39937222 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4202C>T (p.Pro1401Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001197726]|not provided [RCV000482392] |
ChrX:40062365 [GRCh38] ChrX:39921618 [GRCh37] ChrX:Xp11.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.678dup (p.Tyr227fs) |
duplication |
not provided [RCV000486175] |
ChrX:40074667..40074668 [GRCh38] ChrX:39933920..39933921 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 |
copy number loss |
See cases [RCV000512136] |
ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.4053C>T (p.Thr1351=) |
single nucleotide variant |
BCOR-related disorder [RCV004551625]|Oculofaciocardiodental syndrome [RCV002527208]|not specified [RCV000501373] |
ChrX:40062866 [GRCh38] ChrX:39922119 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3486C>T (p.Arg1162=) |
single nucleotide variant |
not specified [RCV000503784] |
ChrX:40064352 [GRCh38] ChrX:39923605 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.850G>A (p.Asp284Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005091085]|not specified [RCV000504056] |
ChrX:40074496 [GRCh38] ChrX:39933749 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) |
single nucleotide variant |
Microphthalmia, syndromic 1 [RCV002496943]|Oculofaciocardiodental syndrome [RCV000640957]|not specified [RCV000500235] |
ChrX:40055429 [GRCh38] ChrX:39914682 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.1544G>A (p.Ser515Asn) |
single nucleotide variant |
not specified [RCV000500422] |
ChrX:40073802 [GRCh38] ChrX:39933055 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 |
copy number loss |
See cases [RCV000510437] |
ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 |
copy number loss |
See cases [RCV000512022] |
ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001123385.2(BCOR):c.3646_3647del (p.Glu1216fs) |
microsatellite |
not provided [RCV000493811] |
ChrX:40063808..40063809 [GRCh38] ChrX:39923061..39923062 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
pathogenic |
NM_001123385.2(BCOR):c.1024C>T (p.Arg342Ter) |
single nucleotide variant |
not provided [RCV000494521] |
ChrX:40074322 [GRCh38] ChrX:39933575 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 |
copy number loss |
See cases [RCV000511615] |
ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 |
copy number loss |
See cases [RCV000510822] |
ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001123385.2(BCOR):c.3568G>A (p.Glu1190Lys) |
single nucleotide variant |
not provided [RCV000523479] |
ChrX:40063887 [GRCh38] ChrX:39923140 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4972C>T (p.Gln1658Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624098] |
ChrX:40053890 [GRCh38] ChrX:39913143 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5134G>A (p.Asp1712Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV000622518]|not provided [RCV001528742] |
ChrX:40052243 [GRCh38] ChrX:39911496 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.680A>G (p.Tyr227Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003282090] |
ChrX:40074666 [GRCh38] ChrX:39933919 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala) |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV000626754] |
ChrX:40055416 [GRCh38] ChrX:39914669 [GRCh37] ChrX:Xp11.4 |
likely pathogenic|uncertain significance |
NM_001123385.2(BCOR):c.2488_2489del (p.Ser830fs) |
microsatellite |
Oculofaciocardiodental syndrome [RCV000011663]|not provided [RCV000524073] |
ChrX:40072857..40072858 [GRCh38] ChrX:39932110..39932111 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.574G>C (p.Val192Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624074] |
ChrX:40074772 [GRCh38] ChrX:39934025 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000640952] |
ChrX:40074114 [GRCh38] ChrX:39933367 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.479T>C (p.Val160Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000640954]|not provided [RCV003437354] |
ChrX:40074867 [GRCh38] ChrX:39934120 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.453A>G (p.Thr151=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000640956] |
ChrX:40074893 [GRCh38] ChrX:39934146 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) |
deletion |
Oculofaciocardiodental syndrome [RCV000625829] |
ChrX:40064393..40064401 [GRCh38] ChrX:39923646..39923654 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000640955] |
ChrX:40064499 [GRCh38] ChrX:39923752 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3491G>A (p.Arg1164Gln) |
single nucleotide variant |
BCOR-related disorder [RCV004547804]|Oculofaciocardiodental syndrome [RCV000640961] |
ChrX:40064347 [GRCh38] ChrX:39923600 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 |
copy number loss |
See cases [RCV000512339] |
ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter) |
single nucleotide variant |
Adenoid cystic carcinoma [RCV000585769] |
ChrX:40062856 [GRCh38] ChrX:39922109 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.2991A>G (p.Ala997=) |
single nucleotide variant |
not provided [RCV000513505] |
ChrX:40072355 [GRCh38] ChrX:39931608 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3355C>T (p.Gln1119Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003485869] |
ChrX:40064483 [GRCh38] ChrX:39923736 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.184C>T (p.His62Tyr) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003486024] |
ChrX:40075162 [GRCh38] ChrX:39934415 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3193G>A (p.Val1065Ile) |
single nucleotide variant |
not provided [RCV000658104] |
ChrX:40071018 [GRCh38] ChrX:39930271 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4(chrX:39645568-40132052)x3 |
copy number gain |
not provided [RCV000659245] |
ChrX:39645568..40132052 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1391C>T (p.Thr464Met) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000698761] |
ChrX:40073955 [GRCh38] ChrX:39933208 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 |
copy number loss |
not provided [RCV000684184] |
ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3 |
pathogenic |
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 |
copy number loss |
not provided [RCV000684185] |
ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000689973] |
ChrX:40072786 [GRCh38] ChrX:39932039 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.599C>T (p.Thr200Met) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000706400] |
ChrX:40074747 [GRCh38] ChrX:39934000 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004026617]|Oculofaciocardiodental syndrome [RCV000703079] |
ChrX:40062248 [GRCh38] ChrX:39921501 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.223A>T (p.Thr75Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000705609] |
ChrX:40075123 [GRCh38] ChrX:39934376 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.520G>A (p.Asp174Asn) |
single nucleotide variant |
BCOR-related disorder [RCV004547873]|Oculofaciocardiodental syndrome [RCV000703333] |
ChrX:40074826 [GRCh38] ChrX:39934079 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 |
copy number loss |
not provided [RCV000753273] |
ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly) |
single nucleotide variant |
BCOR-related disorder [RCV004547915]|History of neurodevelopmental disorder [RCV000721089]|Oculofaciocardiodental syndrome [RCV001514897] |
ChrX:40064533 [GRCh38] ChrX:39923786 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 |
copy number loss |
not provided [RCV000846273] |
ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 |
copy number loss |
not provided [RCV000753274] |
ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001123385.2(BCOR):c.780C>T (p.Ser260=) |
single nucleotide variant |
BCOR-related disorder [RCV004547914]|History of neurodevelopmental disorder [RCV000720950]|not provided [RCV000863692] |
ChrX:40074566 [GRCh38] ChrX:39933819 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.2305del (p.Glu769fs) |
deletion |
not provided [RCV000722973] |
ChrX:40073041 [GRCh38] ChrX:39932294 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4(chrX:39952515-40238078)x1 |
copy number loss |
not provided [RCV000753518] |
ChrX:39952515..40238078 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3533G>A (p.Ser1178Asn) |
single nucleotide variant |
BCOR-related disorder [RCV004547942]|Inborn genetic diseases [RCV002533757]|not specified [RCV000736069] |
ChrX:40063922 [GRCh38] ChrX:39923175 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 |
copy number loss |
not provided [RCV000753275] |
ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.1287G>A (p.Lys429=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000861460] |
ChrX:40074059 [GRCh38] ChrX:39933312 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3052-22del |
deletion |
not provided [RCV001690674] |
ChrX:40071181 [GRCh38] ChrX:39930434 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4080G>A (p.Lys1360=) |
single nucleotide variant |
not provided [RCV000917524] |
ChrX:40062839 [GRCh38] ChrX:39922092 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1680A>G (p.Ser560=) |
single nucleotide variant |
not provided [RCV000939769] |
ChrX:40073666 [GRCh38] ChrX:39932919 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3378C>T (p.His1126=) |
single nucleotide variant |
BCOR-related disorder [RCV004549919]|Oculofaciocardiodental syndrome [RCV000861229]|not provided [RCV003437446] |
ChrX:40064460 [GRCh38] ChrX:39923713 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NC_000023.11:g.(?_40052108)_(40077930_?)del |
deletion |
Oculofaciocardiodental syndrome [RCV000761259] |
ChrX:40052108..40077930 [GRCh38] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3079G>T (p.Glu1027Ter) |
single nucleotide variant |
not provided [RCV000760675] |
ChrX:40071132 [GRCh38] ChrX:39930385 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4478G>A (p.Arg1493Gln) |
single nucleotide variant |
not provided [RCV003239096] |
ChrX:40057272 [GRCh38] ChrX:39916525 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 |
copy number loss |
See cases [RCV000790583] |
ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001123385.2(BCOR):c.4977-74G>A |
single nucleotide variant |
not provided [RCV001567395] |
ChrX:40052474 [GRCh38] ChrX:39911727 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4742-234C>T |
single nucleotide variant |
not provided [RCV001582027] |
ChrX:40054567 [GRCh38] ChrX:39913820 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3238T>C (p.Cys1080Arg) |
single nucleotide variant |
not provided [RCV000999397] |
ChrX:40070973 [GRCh38] ChrX:39930226 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4931C>T (p.Thr1644Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002539054]|Oculofaciocardiodental syndrome [RCV000869851] |
ChrX:40053931 [GRCh38] ChrX:39913184 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.285A>G (p.Gly95=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000865207] |
ChrX:40075061 [GRCh38] ChrX:39934314 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2598C>T (p.His866=) |
single nucleotide variant |
not provided [RCV000869387] |
ChrX:40072748 [GRCh38] ChrX:39932001 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.4305A>G (p.Pro1435=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002062249]|not provided [RCV004714136] |
ChrX:40062262 [GRCh38] ChrX:39921515 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2650C>T (p.Leu884=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000975891] |
ChrX:40072696 [GRCh38] ChrX:39931949 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.946C>T (p.Pro316Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000864919]|not provided [RCV003884754] |
ChrX:40074400 [GRCh38] ChrX:39933653 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.696G>A (p.Pro232=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001409473]|not specified [RCV001818933] |
ChrX:40074650 [GRCh38] ChrX:39933903 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4960G>C (p.Val1654Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002539093]|Oculofaciocardiodental syndrome [RCV001511867]|not provided [RCV000870784] |
ChrX:40053902 [GRCh38] ChrX:39913155 [GRCh37] ChrX:Xp11.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.1221C>T (p.Pro407=) |
single nucleotide variant |
not provided [RCV000867554] |
ChrX:40074125 [GRCh38] ChrX:39933378 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5001G>A (p.Ser1667=) |
single nucleotide variant |
BCOR-related disorder [RCV004549944]|Inborn genetic diseases [RCV004962880]|Oculofaciocardiodental syndrome [RCV002536272] |
ChrX:40052376 [GRCh38] ChrX:39911629 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.2916C>T (p.Tyr972=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000863240] |
ChrX:40072430 [GRCh38] ChrX:39931683 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1645G>A (p.Gly549Ser) |
single nucleotide variant |
not provided [RCV000867842] |
ChrX:40073701 [GRCh38] ChrX:39932954 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2343C>T (p.Thr781=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002065992] |
ChrX:40073003 [GRCh38] ChrX:39932256 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.759C>T (p.Val253=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002062275]|not provided [RCV005243379] |
ChrX:40074587 [GRCh38] ChrX:39933840 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.975G>T (p.Leu325=) |
single nucleotide variant |
not provided [RCV000945677] |
ChrX:40074371 [GRCh38] ChrX:39933624 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4188A>G (p.Arg1396=) |
single nucleotide variant |
not provided [RCV000927208] |
ChrX:40062379 [GRCh38] ChrX:39921632 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.717C>T (p.Thr239=) |
single nucleotide variant |
not provided [RCV000949184] |
ChrX:40074629 [GRCh38] ChrX:39933882 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3951G>A (p.Pro1317=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002539235] |
ChrX:40062968 [GRCh38] ChrX:39922221 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4620C>T (p.Asn1540=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000882160] |
ChrX:40055489 [GRCh38] ChrX:39914742 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2032C>T (p.Pro678Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001514770] |
ChrX:40073314 [GRCh38] ChrX:39932567 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2213C>T (p.Thr738Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001067419] |
ChrX:40073133 [GRCh38] ChrX:39932386 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.3933C>G (p.Cys1311Trp) |
single nucleotide variant |
not provided [RCV001571300] |
ChrX:40062986 [GRCh38] ChrX:39922239 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 |
copy number loss |
not provided [RCV001007291] |
ChrX:32849282..43713387 [GRCh37] ChrX:Xp21.1-11.3 |
pathogenic |
NM_001123385.2(BCOR):c.863C>T (p.Pro288Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001065626] |
ChrX:40074483 [GRCh38] ChrX:39933736 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002535663]|not specified [RCV000779834] |
ChrX:40064498 [GRCh38] ChrX:39923751 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4523G>C (p.Gly1508Ala) |
single nucleotide variant |
not specified [RCV000785143] |
ChrX:40057227 [GRCh38] ChrX:39916480 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.2148C>T (p.Tyr716=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003621575] |
ChrX:40073198 [GRCh38] ChrX:39932451 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.447C>T (p.Tyr149=) |
single nucleotide variant |
not provided [RCV000978491] |
ChrX:40074899 [GRCh38] ChrX:39934152 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4413C>G (p.Ala1471=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001454677] |
ChrX:40062154 [GRCh38] ChrX:39921407 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.906C>T (p.His302=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001513607] |
ChrX:40074440 [GRCh38] ChrX:39933693 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4902C>T (p.Ser1634=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003509620]|not specified [RCV001817070] |
ChrX:40053960 [GRCh38] ChrX:39913213 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.3831C>T (p.Pro1277=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001514184] |
ChrX:40063624 [GRCh38] ChrX:39922877 [GRCh37] ChrX:Xp11.4 |
benign |
46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated circulating creatine kinase concentration [RCV000856573] |
ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3 |
likely pathogenic |
NM_001123385.2(BCOR):c.2288G>T (p.Arg763Leu) |
single nucleotide variant |
BCOR-related disorder [RCV004549929]|Oculofaciocardiodental syndrome [RCV000863169] |
ChrX:40073058 [GRCh38] ChrX:39932311 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) |
single nucleotide variant |
BCOR-related disorder [RCV004551899]|Microphthalmia, syndromic 1 [RCV002489255]|not provided [RCV000938240] |
ChrX:40072923 [GRCh38] ChrX:39932176 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.1620G>A (p.Arg540=) |
single nucleotide variant |
BCOR-related disorder [RCV004549935]|Oculofaciocardiodental syndrome [RCV001519676] |
ChrX:40073726 [GRCh38] ChrX:39932979 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.1669G>A (p.Val557Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002536244] |
ChrX:40073677 [GRCh38] ChrX:39932930 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4779C>T (p.Asp1593=) |
single nucleotide variant |
not provided [RCV000869388] |
ChrX:40054296 [GRCh38] ChrX:39913549 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4062C>T (p.Ser1354=) |
single nucleotide variant |
not provided [RCV000876865] |
ChrX:40062857 [GRCh38] ChrX:39922110 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.864G>A (p.Pro288=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003621577] |
ChrX:40074482 [GRCh38] ChrX:39933735 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2409T>A (p.Leu803=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001444421] |
ChrX:40072937 [GRCh38] ChrX:39932190 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1154C>T (p.Ala385Val) |
single nucleotide variant |
not provided [RCV000862662] |
ChrX:40074192 [GRCh38] ChrX:39933445 [GRCh37] ChrX:Xp11.4 |
likely benign |
Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001123385.2(BCOR):c.2424T>C (p.Leu808=) |
single nucleotide variant |
BCOR-related disorder [RCV004551898]|not provided [RCV000938239] |
ChrX:40072922 [GRCh38] ChrX:39932175 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787440] |
ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23 |
pathogenic |
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp) |
single nucleotide variant |
BCOR-related disorder [RCV004549903]|Oculofaciocardiodental syndrome [RCV000823799] |
ChrX:40073623 [GRCh38] ChrX:39932876 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.11:g.(?_40052089)_(40077949_?)del |
deletion |
Oculofaciocardiodental syndrome [RCV000797485] |
ChrX:40052089..40077949 [GRCh38] ChrX:39911342..39937202 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3366G>A (p.Ser1122=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000871041] |
ChrX:40064472 [GRCh38] ChrX:39923725 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3502+127G>T |
single nucleotide variant |
not provided [RCV000833507] |
ChrX:40064209 [GRCh38] ChrX:39923462 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3503-158C>A |
single nucleotide variant |
not provided [RCV000833509] |
ChrX:40064110 [GRCh38] ChrX:39923363 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4173+139G>T |
single nucleotide variant |
not provided [RCV000833510] |
ChrX:40062607 [GRCh38] ChrX:39921860 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4741+317T>C |
single nucleotide variant |
not provided [RCV000833511] |
ChrX:40055051 [GRCh38] ChrX:39914304 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.1575G>A (p.Met525Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000809646] |
ChrX:40073771 [GRCh38] ChrX:39933024 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000811990] |
ChrX:40052396 [GRCh38] ChrX:39911649 [GRCh37] ChrX:Xp11.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs) |
deletion |
Oculofaciocardiodental syndrome [RCV000813882] |
ChrX:40072487..40072488 [GRCh38] ChrX:39931740..39931741 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.166-55G>A |
single nucleotide variant |
not provided [RCV000836648] |
ChrX:40075235 [GRCh38] ChrX:39934488 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3467del (p.Pro1156fs) |
deletion |
Oculofaciocardiodental syndrome [RCV000795508] |
ChrX:40064371 [GRCh38] ChrX:39923624 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 |
copy number loss |
not provided [RCV001007224] |
ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002332766]|Microphthalmia, syndromic 1 [RCV002507471]|Oculofaciocardiodental syndrome [RCV000862354]|not provided [RCV004714134] |
ChrX:40074864 [GRCh38] ChrX:39934117 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.3463del (p.Asp1155fs) |
deletion |
Oculofaciocardiodental syndrome [RCV000798862] |
ChrX:40064375 [GRCh38] ChrX:39923628 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000798941] |
ChrX:40072826 [GRCh38] ChrX:39932079 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.2877A>G (p.Pro959=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003768723] |
ChrX:40072469 [GRCh38] ChrX:39931722 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs) |
duplication |
Oculofaciocardiodental syndrome [RCV000791881] |
ChrX:40064593..40064594 [GRCh38] ChrX:39923846..39923847 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.300A>G (p.Lys100=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000964677] |
ChrX:40075046 [GRCh38] ChrX:39934299 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4890C>T (p.Asp1630=) |
single nucleotide variant |
BCOR-related disorder [RCV004549933]|Oculofaciocardiodental syndrome [RCV001513376] |
ChrX:40053972 [GRCh38] ChrX:39913225 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.1708G>A (p.Ala570Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004030032]|Oculofaciocardiodental syndrome [RCV000980478] |
ChrX:40073638 [GRCh38] ChrX:39932891 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1257A>G (p.Lys419=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000862854]|not specified [RCV001816950] |
ChrX:40074089 [GRCh38] ChrX:39933342 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2295C>T (p.Ser765=) |
single nucleotide variant |
not provided [RCV000861951] |
ChrX:40073051 [GRCh38] ChrX:39932304 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5190G>A (p.Thr1730=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000862263]|not provided [RCV004714132] |
ChrX:40052187 [GRCh38] ChrX:39911440 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000821081] |
ChrX:40062906 [GRCh38] ChrX:39922159 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3976_3979del (p.Glu1326fs) |
deletion |
Oculofaciocardiodental syndrome [RCV004782224] |
ChrX:40062940..40062943 [GRCh38] ChrX:39922193..39922196 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3261G>T (p.Lys1087Asn) |
single nucleotide variant |
Intellectual disability [RCV001251682] |
ChrX:40064577 [GRCh38] ChrX:39923830 [GRCh37] ChrX:Xp11.4 |
likely benign |
GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3 |
copy number gain |
not provided [RCV000845673] |
ChrX:38056276..40565244 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001060410] |
ChrX:40064371 [GRCh38] ChrX:39923624 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.779C>G (p.Ser260Cys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001215827]|not provided [RCV001539815] |
ChrX:40074567 [GRCh38] ChrX:39933820 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4540C>T (p.Arg1514Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001231737]|not provided [RCV003442792] |
ChrX:40057210 [GRCh38] ChrX:39916463 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4711del (p.His1571fs) |
deletion |
Oculofaciocardiodental syndrome [RCV001227225] |
ChrX:40055398 [GRCh38] ChrX:39914651 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3487C>T (p.Arg1163Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001226724] |
ChrX:40064351 [GRCh38] ChrX:39923604 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2014T>G (p.Ser672Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001229259] |
ChrX:40073332 [GRCh38] ChrX:39932585 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4(chrX:39911362-39937182)x1 |
copy number loss |
not provided [RCV000996088] |
ChrX:39911362..39937182 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.1024del (p.Arg342fs) |
deletion |
not provided [RCV001093487] |
ChrX:40074322 [GRCh38] ChrX:39933575 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4903G>A (p.Asp1635Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002560245]|Oculofaciocardiodental syndrome [RCV001198283] |
ChrX:40053959 [GRCh38] ChrX:39913212 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.10:g.(?_39911362)_(41782241_?)dup |
duplication |
not provided [RCV003105644] |
ChrX:39911362..41782241 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.10:g.(?_39911362)_(41782241_?)del |
deletion |
Syndromic X-linked intellectual disability Hedera type [RCV003122552]|not provided [RCV003105645] |
ChrX:39911362..41782241 [GRCh37] ChrX:Xp11.4 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_001123385.2(BCOR):c.4405C>T (p.Arg1469Trp) |
single nucleotide variant |
not provided [RCV003237150] |
ChrX:40062162 [GRCh38] ChrX:39921415 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.165+166C>T |
single nucleotide variant |
not provided [RCV001547064] |
ChrX:40076288 [GRCh38] ChrX:39935541 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1539dup (p.Pro514fs) |
duplication |
Oculofaciocardiodental syndrome (OFCD) [RCV004556164] |
ChrX:40073806..40073807 [GRCh38] ChrX:39933059..39933060 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3155A>C (p.Glu1052Ala) |
single nucleotide variant |
not provided [RCV003126966] |
ChrX:40071056 [GRCh38] ChrX:39930309 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4173+127T>G |
single nucleotide variant |
not provided [RCV001673341] |
ChrX:40062619 [GRCh38] ChrX:39921872 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4429-35T>C |
single nucleotide variant |
not provided [RCV001645602] |
ChrX:40057356 [GRCh38] ChrX:39916609 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4765C>T (p.Arg1589Cys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002073223]|not provided [RCV001694335] |
ChrX:40054310 [GRCh38] ChrX:39913563 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.87-202C>T |
single nucleotide variant |
not provided [RCV001595284] |
ChrX:40076734 [GRCh38] ChrX:39935987 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2124C>T (p.Thr708=) |
single nucleotide variant |
Inborn genetic diseases [RCV002415978]|Oculofaciocardiodental syndrome [RCV003621574] |
ChrX:40073222 [GRCh38] ChrX:39932475 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.4599T>C (p.Pro1533=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001398362] |
ChrX:40055510 [GRCh38] ChrX:39914763 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3669G>A (p.Ser1223=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000862123] |
ChrX:40063786 [GRCh38] ChrX:39923039 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3138C>T (p.Phe1046=) |
single nucleotide variant |
not provided [RCV000923131] |
ChrX:40071073 [GRCh38] ChrX:39930326 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4203G>A (p.Pro1401=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002538973] |
ChrX:40062364 [GRCh38] ChrX:39921617 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4383C>T (p.Asn1461=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001519255]|not provided [RCV003438509] |
ChrX:40062184 [GRCh38] ChrX:39921437 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.5193C>T (p.Asn1731=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002536768]|not provided [RCV000867691] |
ChrX:40052184 [GRCh38] ChrX:39911437 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.1902A>G (p.Pro634=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV000981546] |
ChrX:40073444 [GRCh38] ChrX:39932697 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4541G>A (p.Arg1514Gln) |
single nucleotide variant |
not provided [RCV001760646] |
ChrX:40057209 [GRCh38] ChrX:39916462 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) |
single nucleotide variant |
Intellectual disability [RCV001251681]|Oculofaciocardiodental syndrome [RCV000864747]|not provided [RCV003438511] |
ChrX:40070985 [GRCh38] ChrX:39930238 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.2631C>T (p.Thr877=) |
single nucleotide variant |
not provided [RCV000868362] |
ChrX:40072715 [GRCh38] ChrX:39931968 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2514del (p.Lys839fs) |
deletion |
Oculofaciocardiodental syndrome [RCV001056985] |
ChrX:40072832 [GRCh38] ChrX:39932085 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4679C>T (p.Thr1560Met) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001227904] |
ChrX:40055430 [GRCh38] ChrX:39914683 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.651G>A (p.Met217Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001198252]|not provided [RCV004809034] |
ChrX:40074695 [GRCh38] ChrX:39933948 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.3417A>C (p.Ser1139=) |
single nucleotide variant |
not provided [RCV000913556] |
ChrX:40064421 [GRCh38] ChrX:39923674 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3848-10C>T |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001523162] |
ChrX:40063081 [GRCh38] ChrX:39922334 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2997+214G>A |
single nucleotide variant |
not provided [RCV001557190] |
ChrX:40072135 [GRCh38] ChrX:39931388 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.467A>C (p.Gln156Pro) |
single nucleotide variant |
BCOR-related disorder [RCV001563665] |
ChrX:40074879 [GRCh38] ChrX:39934132 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4596-117G>A |
single nucleotide variant |
not provided [RCV001552717] |
ChrX:40055630 [GRCh38] ChrX:39914883 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3404_3422del (p.Lys1135fs) |
deletion |
Oculofaciocardiodental syndrome [RCV002251299] |
ChrX:40064416..40064434 [GRCh38] ChrX:39923669..39923687 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.1601G>C (p.Trp534Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001057456] |
ChrX:40073745 [GRCh38] ChrX:39932998 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.982del (p.Asp328fs) |
deletion |
Oculofaciocardiodental syndrome [RCV001054846] |
ChrX:40074364 [GRCh38] ChrX:39933617 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4977-182C>A |
single nucleotide variant |
not provided [RCV001639189] |
ChrX:40052582 [GRCh38] ChrX:39911835 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3503-1G>C |
single nucleotide variant |
not provided [RCV001587578] |
ChrX:40063953 [GRCh38] ChrX:39923206 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.*299_*300dup |
duplication |
not provided [RCV001614288] |
ChrX:40051808..40051809 [GRCh38] ChrX:39911061..39911062 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.163G>A (p.Val55Met) |
single nucleotide variant |
not provided [RCV001699932] |
ChrX:40076456 [GRCh38] ChrX:39935709 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.10:g.(?_30326313)_(41000684_?)del |
deletion |
Ornithine carbamoyltransferase deficiency [RCV001033914] |
ChrX:30326313..41000684 [GRCh37] ChrX:Xp21.2-11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4976+69G>A |
single nucleotide variant |
not provided [RCV001649985] |
ChrX:40053817 [GRCh38] ChrX:39913070 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4551del (p.Glu1518fs) |
deletion |
Oculofaciocardiodental syndrome [RCV001542514] |
ChrX:40057199 [GRCh38] ChrX:39916452 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.166-172G>A |
single nucleotide variant |
not provided [RCV001586620] |
ChrX:40075352 [GRCh38] ChrX:39934605 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.786_790dup (p.Pro264fs) |
duplication |
Oculofaciocardiodental syndrome [RCV001064433] |
ChrX:40074555..40074556 [GRCh38] ChrX:39933808..39933809 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3052-22dup |
duplication |
not provided [RCV001649393] |
ChrX:40071180..40071181 [GRCh38] ChrX:39930433..39930434 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4742-167dup |
duplication |
not provided [RCV001587993] |
ChrX:40054499..40054500 [GRCh38] ChrX:39913752..39913753 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.724G>A (p.Glu242Lys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001064998] |
ChrX:40074622 [GRCh38] ChrX:39933875 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3848-32G>C |
single nucleotide variant |
not provided [RCV001566433] |
ChrX:40063103 [GRCh38] ChrX:39922356 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4742-167del |
deletion |
not provided [RCV001694990] |
ChrX:40054500 [GRCh38] ChrX:39913753 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3871C>T (p.Pro1291Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001196611] |
ChrX:40063048 [GRCh38] ChrX:39922301 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.938C>T (p.Pro313Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001245882] |
ChrX:40074408 [GRCh38] ChrX:39933661 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2449del (p.Thr817fs) |
deletion |
Oculofaciocardiodental syndrome [RCV001027990] |
ChrX:40072897 [GRCh38] ChrX:39932150 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NC_000023.11:g.(?_40070953)_(40077949_?)dup |
duplication |
Oculofaciocardiodental syndrome [RCV001033837] |
ChrX:39930206..39937202 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001204867]|not provided [RCV003442765] |
ChrX:40077893 [GRCh38] ChrX:39937146 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3500A>G (p.Lys1167Arg) |
single nucleotide variant |
Intellectual disability [RCV001251683] |
ChrX:40064338 [GRCh38] ChrX:39923591 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1696C>T (p.Arg566Cys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001253540] |
ChrX:40073650 [GRCh38] ChrX:39932903 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3490C>T (p.Arg1164Ter) |
single nucleotide variant |
not provided [RCV001254808] |
ChrX:40064348 [GRCh38] ChrX:39923601 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His) |
single nucleotide variant |
Inborn genetic diseases [RCV002568734]|Oculofaciocardiodental syndrome [RCV001253398] |
ChrX:40052335 [GRCh38] ChrX:39911588 [GRCh37] ChrX:Xp11.4 |
pathogenic|uncertain significance |
NM_001123385.2(BCOR):c.2572G>T (p.Glu858Ter) |
single nucleotide variant |
sellar metastasis from primary bronchial carcinoid tumor [RCV001251069] |
ChrX:40072774 [GRCh38] ChrX:39932027 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4(chrX:39349074-40119639)x2 |
copy number gain |
not provided [RCV001258956] |
ChrX:39349074..40119639 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2266G>A (p.Glu756Lys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV004799442] |
ChrX:40073080 [GRCh38] ChrX:39932333 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3848-35T>C |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001554053]|not provided [RCV001685516] |
ChrX:40063106 [GRCh38] ChrX:39922359 [GRCh37] ChrX:Xp11.4 |
benign |
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_001123385.2(BCOR):c.4742-69G>A |
single nucleotide variant |
not provided [RCV001540431] |
ChrX:40054402 [GRCh38] ChrX:39913655 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4596-1G>A |
single nucleotide variant |
not provided [RCV001268803] |
ChrX:40055514 [GRCh38] ChrX:39914767 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 |
copy number loss |
See cases [RCV001263061] |
ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
Single allele |
complex |
Turner syndrome [RCV002280670] |
ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) |
copy number loss |
Turner syndrome [RCV002280671] |
ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) |
copy number loss |
Cardiomyopathy [RCV001352652] |
ChrX:39645568..44199000 [GRCh37] ChrX:Xp11.4-11.3 |
pathogenic |
NM_001123385.2(BCOR):c.1039_1040del (p.Thr347fs) |
deletion |
not provided [RCV001281597] |
ChrX:40074306..40074307 [GRCh38] ChrX:39933559..39933560 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.937C>A (p.Pro313Thr) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001321902] |
ChrX:40074409 [GRCh38] ChrX:39933662 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2690C>T (p.Ser897Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001368691] |
ChrX:40072656 [GRCh38] ChrX:39931909 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4944G>A (p.Pro1648=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001414932] |
ChrX:40053918 [GRCh38] ChrX:39913171 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3692G>A (p.Arg1231Gln) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001360526] |
ChrX:40063763 [GRCh38] ChrX:39923016 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.10:g.(?_39916388)_(39937202_?)del |
deletion |
Oculofaciocardiodental syndrome [RCV001382812] |
ChrX:39916388..39937202 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2664C>A (p.Asn888Lys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001344770] |
ChrX:40072682 [GRCh38] ChrX:39931935 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5157A>T (p.Glu1719Asp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001365167] |
ChrX:40052220 [GRCh38] ChrX:39911473 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.10:g.(?_39911356)_(40465012_?)dup |
duplication |
Oculofaciocardiodental syndrome [RCV001352276] |
ChrX:39911356..40465012 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3092G>A (p.Arg1031Lys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001295225] |
ChrX:40071119 [GRCh38] ChrX:39930372 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.3349G>A (p.Ala1117Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003160872]|Oculofaciocardiodental syndrome [RCV001461610]|not provided [RCV001727856]|not specified [RCV001700752] |
ChrX:40064489 [GRCh38] ChrX:39923742 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.1153G>A (p.Ala385Thr) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001420602] |
ChrX:40074193 [GRCh38] ChrX:39933446 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.188G>A (p.Arg63Lys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001514826]|not provided [RCV004714234] |
ChrX:40075158 [GRCh38] ChrX:39934411 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4581C>T (p.Ala1527=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001521234] |
ChrX:40057169 [GRCh38] ChrX:39916422 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.455C>T (p.Pro152Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001521826] |
ChrX:40074891 [GRCh38] ChrX:39934144 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.885T>C (p.Pro295=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001434598] |
ChrX:40074461 [GRCh38] ChrX:39933714 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4497C>A (p.Cys1499Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001386734] |
ChrX:40057253 [GRCh38] ChrX:39916506 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1668C>T (p.Asn556=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001446507] |
ChrX:40073678 [GRCh38] ChrX:39932931 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3693G>T (p.Arg1231=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001490414] |
ChrX:40063762 [GRCh38] ChrX:39923015 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3410A>G (p.Lys1137Arg) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001515666] |
ChrX:40064428 [GRCh38] ChrX:39923681 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2769A>G (p.Pro923=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001516147] |
ChrX:40072577 [GRCh38] ChrX:39931830 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.1242G>A (p.Ala414=) |
single nucleotide variant |
BCOR-related disorder [RCV004550289]|Oculofaciocardiodental syndrome [RCV001516149] |
ChrX:40074104 [GRCh38] ChrX:39933357 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.2512C>T (p.Pro838Ser) |
single nucleotide variant |
BCOR-related disorder [RCV004550281]|Oculofaciocardiodental syndrome [RCV001511864] |
ChrX:40072834 [GRCh38] ChrX:39932087 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.3238+183C>T |
single nucleotide variant |
not provided [RCV001585339] |
ChrX:40070790 [GRCh38] ChrX:39930043 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.387C>G (p.Pro129=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001478011] |
ChrX:40074959 [GRCh38] ChrX:39934212 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4218C>T (p.Asp1406=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001501944] |
ChrX:40062349 [GRCh38] ChrX:39921602 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.179C>T (p.Thr60Met) |
single nucleotide variant |
BCOR-related disorder [RCV004550292]|Oculofaciocardiodental syndrome [RCV001519682]|not provided [RCV003883688] |
ChrX:40075167 [GRCh38] ChrX:39934420 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.2898C>T (p.Ile966=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001519759] |
ChrX:40072448 [GRCh38] ChrX:39931701 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3090_3093del (p.Arg1031fs) |
microsatellite |
Oculofaciocardiodental syndrome [RCV001382052] |
ChrX:40071118..40071121 [GRCh38] ChrX:39930371..39930374 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1045C>T (p.Pro349Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001424691] |
ChrX:40074301 [GRCh38] ChrX:39933554 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4485C>T (p.Asn1495=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001430958] |
ChrX:40057265 [GRCh38] ChrX:39916518 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5062G>C (p.Glu1688Gln) |
single nucleotide variant |
not provided [RCV001755172] |
ChrX:40052315 [GRCh38] ChrX:39911568 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1381A>G (p.Met461Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003289076]|Oculofaciocardiodental syndrome [RCV002540358]|not provided [RCV001754839] |
ChrX:40073965 [GRCh38] ChrX:39933218 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.728G>A (p.Arg243His) |
single nucleotide variant |
not provided [RCV002255029] |
ChrX:40074618 [GRCh38] ChrX:39933871 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4714del (p.Ser1572fs) |
deletion |
BCOR-related disorder [RCV001733821] |
ChrX:40055395 [GRCh38] ChrX:39914648 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.4345A>G (p.Met1449Val) |
single nucleotide variant |
not provided [RCV001767033] |
ChrX:40062222 [GRCh38] ChrX:39921475 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3958A>G (p.Lys1320Glu) |
single nucleotide variant |
not provided [RCV001772409] |
ChrX:40062961 [GRCh38] ChrX:39922214 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.733C>T (p.Leu245Phe) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005094946]|not provided [RCV001754449] |
ChrX:40074613 [GRCh38] ChrX:39933866 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1952T>C (p.Ile651Thr) |
single nucleotide variant |
not provided [RCV001768845] |
ChrX:40073394 [GRCh38] ChrX:39932647 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2416G>A (p.Val806Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005057568]|not provided [RCV001773890] |
ChrX:40072930 [GRCh38] ChrX:39932183 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1157C>A (p.Ala386Asp) |
single nucleotide variant |
not provided [RCV001765359] |
ChrX:40074189 [GRCh38] ChrX:39933442 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1523C>T (p.Ser508Phe) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001868519]|not provided [RCV001752554] |
ChrX:40073823 [GRCh38] ChrX:39933076 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4349C>T (p.Pro1450Leu) |
single nucleotide variant |
not provided [RCV001770753] |
ChrX:40062218 [GRCh38] ChrX:39921471 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1775C>A (p.Pro592Gln) |
single nucleotide variant |
not provided [RCV001769229] |
ChrX:40073571 [GRCh38] ChrX:39932824 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3691C>T (p.Arg1231Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004040931]|Oculofaciocardiodental syndrome [RCV001808997] |
ChrX:40063764 [GRCh38] ChrX:39923017 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1411G>C (p.Ala471Pro) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001795824] |
ChrX:40073935 [GRCh38] ChrX:39933188 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.739C>T (p.Leu247=) |
single nucleotide variant |
BCOR-related disorder [RCV004552039]|Oculofaciocardiodental syndrome [RCV002541974]|not specified [RCV001817167] |
ChrX:40074607 [GRCh38] ChrX:39933860 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.1805C>T (p.Pro602Leu) |
single nucleotide variant |
not specified [RCV001817290] |
ChrX:40073541 [GRCh38] ChrX:39932794 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3053G>A (p.Arg1018His) |
single nucleotide variant |
not provided [RCV001760932] |
ChrX:40071158 [GRCh38] ChrX:39930411 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr) |
single nucleotide variant |
Microphthalmia, syndromic 1 [RCV002482365]|Oculofaciocardiodental syndrome [RCV003509699]|not specified [RCV001820422] |
ChrX:40074268 [GRCh38] ChrX:39933521 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.954C>T (p.Ala318=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003509700]|not specified [RCV001820423] |
ChrX:40074392 [GRCh38] ChrX:39933645 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.790C>T (p.Pro264Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003621612]|not specified [RCV001822850] |
ChrX:40074556 [GRCh38] ChrX:39933809 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.2600A>G (p.Glu867Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001808996] |
ChrX:40072746 [GRCh38] ChrX:39931999 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3291C>A (p.Asp1097Glu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001950242] |
ChrX:40064547 [GRCh38] ChrX:39923800 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.578A>G (p.Asn193Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004970608]|Oculofaciocardiodental syndrome [RCV001950673] |
ChrX:40074768 [GRCh38] ChrX:39934021 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.3987G>C (p.Lys1329Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002004833] |
ChrX:40062932 [GRCh38] ChrX:39922185 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1910C>G (p.Ser637Cys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001911504] |
ChrX:40073436 [GRCh38] ChrX:39932689 [GRCh37] ChrX:Xp11.4 |
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 |
NM_001123385.2(BCOR):c.432_433insGGTG (p.Phe145fs) |
insertion |
not provided [RCV000722558] |
ChrX:40074913..40074914 [GRCh38] ChrX:39934166..39934167 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.10:g.(?_39911342)_(41782261_?)dup |
duplication |
Intellectual disability, CASK-related, X-linked [RCV003117447]|Syndromic X-linked intellectual disability Hedera type [RCV000640920] |
ChrX:39911342..41782261 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 |
copy number loss |
not provided [RCV001281358] |
ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001123385.2(BCOR):c.2903A>G (p.Asn968Ser) |
single nucleotide variant |
not provided [RCV001355621] |
ChrX:40072443 [GRCh38] ChrX:39931696 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.51C>G (p.Ser17Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003169903]|Oculofaciocardiodental syndrome [RCV001370349] |
ChrX:40077879 [GRCh38] ChrX:39937132 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4560C>G (p.Gly1520=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001513099] |
ChrX:40057190 [GRCh38] ChrX:39916443 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3226del (p.Glu1076fs) |
deletion |
Oculofaciocardiodental syndrome [RCV001730135] |
ChrX:40070985 [GRCh38] ChrX:39930238 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4173+2T>C |
single nucleotide variant |
not provided [RCV001777195] |
ChrX:40062744 [GRCh38] ChrX:39921997 [GRCh37] ChrX:Xp11.4 |
not provided |
NM_001123385.2(BCOR):c.2738C>A (p.Thr913Asn) |
single nucleotide variant |
not provided [RCV001757141] |
ChrX:40072608 [GRCh38] ChrX:39931861 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3626G>A (p.Arg1209His) |
single nucleotide variant |
not provided [RCV001766940] |
ChrX:40063829 [GRCh38] ChrX:39923082 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2617C>T (p.Gln873Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001781145] |
ChrX:40072729 [GRCh38] ChrX:39931982 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.439G>A (p.Ala147Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004040197]|not provided [RCV001756983] |
ChrX:40074907 [GRCh38] ChrX:39934160 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1981C>G (p.Pro661Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001983228] |
ChrX:40073365 [GRCh38] ChrX:39932618 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4240C>G (p.Gln1414Glu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002039284] |
ChrX:40062327 [GRCh38] ChrX:39921580 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4076G>T (p.Gly1359Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001984346] |
ChrX:40062843 [GRCh38] ChrX:39922096 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2815T>C (p.Tyr939His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001942438] |
ChrX:40072531 [GRCh38] ChrX:39931784 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1064C>T (p.Ser355Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001930410] |
ChrX:40074282 [GRCh38] ChrX:39933535 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2655_2660del (p.Gly886_Thr887del) |
deletion |
Oculofaciocardiodental syndrome [RCV001879353] |
ChrX:40072686..40072691 [GRCh38] ChrX:39931939..39931944 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2789C>G (p.Pro930Arg) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001920921] |
ChrX:40072557 [GRCh38] ChrX:39931810 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.947C>A (p.Pro316His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002016524] |
ChrX:40074399 [GRCh38] ChrX:39933652 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3872C>T (p.Pro1291Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001978287] |
ChrX:40063047 [GRCh38] ChrX:39922300 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NC_000023.10:g.(?_39911362)_(41091777_?)dup |
duplication |
Syndromic X-linked intellectual disability Hedera type [RCV001920633] |
ChrX:39911362..41091777 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.438T>A (p.Ser146Arg) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001992073] |
ChrX:40074908 [GRCh38] ChrX:39934161 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4858C>G (p.Pro1620Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003164144]|Oculofaciocardiodental syndrome [RCV001900225] |
ChrX:40054004 [GRCh38] ChrX:39913257 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.176G>A (p.Ser59Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001930302] |
ChrX:40075170 [GRCh38] ChrX:39934423 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.235C>T (p.Arg79Trp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001952805] |
ChrX:40075111 [GRCh38] ChrX:39934364 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.733C>A (p.Leu245Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001883681] |
ChrX:40074613 [GRCh38] ChrX:39933866 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.627G>A (p.Ser209=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002206060] |
ChrX:40074719 [GRCh38] ChrX:39933972 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3847+17C>T |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002106674] |
ChrX:40063591 [GRCh38] ChrX:39922844 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.594T>C (p.Gly198=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002190550] |
ChrX:40074752 [GRCh38] ChrX:39934005 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5058C>T (p.Asn1686=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002088355] |
ChrX:40052319 [GRCh38] ChrX:39911572 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3502+19G>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002106563] |
ChrX:40064317 [GRCh38] ChrX:39923570 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3813G>A (p.Ser1271=) |
single nucleotide variant |
BCOR-related disorder [RCV004729083]|Oculofaciocardiodental syndrome [RCV002129796] |
ChrX:40063642 [GRCh38] ChrX:39922895 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.242G>A (p.Gly81Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002553686]|Oculofaciocardiodental syndrome [RCV002174936] |
ChrX:40075104 [GRCh38] ChrX:39934357 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.4152C>T (p.Tyr1384=) |
single nucleotide variant |
BCOR-related disorder [RCV004553697]|Oculofaciocardiodental syndrome [RCV002080908]|not provided [RCV003438937] |
ChrX:40062767 [GRCh38] ChrX:39922020 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.699G>A (p.Leu233=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002133431] |
ChrX:40074647 [GRCh38] ChrX:39933900 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.86+8C>G |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002095134] |
ChrX:40077836 [GRCh38] ChrX:39937089 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4174-20G>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002132331] |
ChrX:40062413 [GRCh38] ChrX:39921666 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4328_4329del (p.Thr1443fs) |
deletion |
Oculofaciocardiodental syndrome [RCV002226914] |
ChrX:40062238..40062239 [GRCh38] ChrX:39921491..39921492 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4428+16C>T |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002202457] |
ChrX:40062123 [GRCh38] ChrX:39921376 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4008C>T (p.Asp1336=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002099164] |
ChrX:40062911 [GRCh38] ChrX:39922164 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4751del (p.Asn1584fs) |
deletion |
Acute myeloid leukemia [RCV002227834] |
ChrX:40054324 [GRCh38] ChrX:39913577 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.981G>A (p.Gly327=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002100735] |
ChrX:40074365 [GRCh38] ChrX:39933618 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2694T>G (p.Thr898=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002202599] |
ChrX:40072652 [GRCh38] ChrX:39931905 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1529dup (p.Val511fs) |
duplication |
Oculofaciocardiodental syndrome [RCV002222277] |
ChrX:40073816..40073817 [GRCh38] ChrX:39933069..39933070 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1707C>T (p.Ser569=) |
single nucleotide variant |
BCOR-related disorder [RCV004553727]|Oculofaciocardiodental syndrome [RCV002122166] |
ChrX:40073639 [GRCh38] ChrX:39932892 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1651G>A (p.Asp551Asn) |
single nucleotide variant |
BCOR-related disorder [RCV004553645]|Oculofaciocardiodental syndrome [RCV002082432]|not provided [RCV005242153] |
ChrX:40073695 [GRCh38] ChrX:39932948 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.3257A>G (p.Asn1086Ser) |
single nucleotide variant |
not provided [RCV004784637] |
ChrX:40064581 [GRCh38] ChrX:39923834 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4606G>A (p.Asp1536Asn) |
single nucleotide variant |
not provided [RCV004784708] |
ChrX:40055503 [GRCh38] ChrX:39914756 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4596-10C>G |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003116025] |
ChrX:40055523 [GRCh38] ChrX:39914776 [GRCh37] ChrX:Xp11.4 |
likely benign |
NC_000023.10:g.(?_39921372)_(39923872_?)del |
deletion |
Oculofaciocardiodental syndrome [RCV003119788] |
ChrX:39921372..39923872 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3812C>T (p.Ser1271Leu) |
single nucleotide variant |
not provided [RCV004787225] |
ChrX:40063643 [GRCh38] ChrX:39922896 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3888_3889del (p.Ser1297fs) |
deletion |
Oculofaciocardiodental syndrome [RCV003153104] |
ChrX:40063030..40063031 [GRCh38] ChrX:39922283..39922284 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.206C>T (p.Ala69Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003148222] |
ChrX:40075140 [GRCh38] ChrX:39934393 [GRCh37] ChrX:Xp11.4 |
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_001123385.2(BCOR):c.2516A>G (p.Lys839Arg) |
single nucleotide variant |
not provided [RCV002288027] |
ChrX:40072830 [GRCh38] ChrX:39932083 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1571G>A (p.Ser524Asn) |
single nucleotide variant |
not provided [RCV002269525] |
ChrX:40073775 [GRCh38] ChrX:39933028 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.590A>C (p.Glu197Ala) |
single nucleotide variant |
not provided [RCV002281447] |
ChrX:40074756 [GRCh38] ChrX:39934009 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4376A>G (p.Asn1459Ser) |
single nucleotide variant |
not provided [RCV002292176] |
ChrX:40062191 [GRCh38] ChrX:39921444 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.976C>G (p.Pro326Ala) |
single nucleotide variant |
not provided [RCV003236160] |
ChrX:40074370 [GRCh38] ChrX:39933623 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2722G>A (p.Asp908Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002266787] |
ChrX:40072624 [GRCh38] ChrX:39931877 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2038_2040dup (p.Tyr680_Pro681insTyr) |
duplication |
Inborn genetic diseases [RCV002419869] |
ChrX:40073305..40073306 [GRCh38] ChrX:39932558..39932559 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.460G>A (p.Gly154Arg) |
single nucleotide variant |
not provided [RCV002288133] |
ChrX:40074886 [GRCh38] ChrX:39934139 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4977-4_4977-2delinsTTG |
indel |
Oculofaciocardiodental syndrome [RCV003147924] |
ChrX:40052402..40052404 [GRCh38] ChrX:39911655..39911657 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
GRCh37/hg19 Xp11.4(chrX:39697946-39914660)x3 |
copy number gain |
not provided [RCV002474633] |
ChrX:39697946..39914660 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.493G>C (p.Ala165Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002342681]|Oculofaciocardiodental syndrome [RCV003102657] |
ChrX:40074853 [GRCh38] ChrX:39934106 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs) |
indel |
Oculofaciocardiodental syndrome [RCV002471607] |
ChrX:40071045..40071046 [GRCh38] ChrX:39930298..39930299 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.5144C>T (p.Ala1715Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002303889] |
ChrX:40052233 [GRCh38] ChrX:39911486 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.458C>T (p.Pro153Leu) |
single nucleotide variant |
BCOR-related disorder [RCV004548277]|Inborn genetic diseases [RCV002342266]|not provided [RCV003128953] |
ChrX:40074888 [GRCh38] ChrX:39934141 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4017G>C (p.Glu1339Asp) |
single nucleotide variant |
not provided [RCV002308943] |
ChrX:40062902 [GRCh38] ChrX:39922155 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4852G>T (p.Ala1618Ser) |
single nucleotide variant |
not provided [RCV002301060] |
ChrX:40054010 [GRCh38] ChrX:39913263 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.383C>T (p.Thr128Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002301969] |
ChrX:40074963 [GRCh38] ChrX:39934216 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4009G>A (p.Glu1337Lys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002994286] |
ChrX:40062910 [GRCh38] ChrX:39922163 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4760A>G (p.Gln1587Arg) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002904279] |
ChrX:40054315 [GRCh38] ChrX:39913568 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2422C>T (p.Leu808Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002860875] |
ChrX:40072924 [GRCh38] ChrX:39932177 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3153G>A (p.Trp1051Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003075002] |
ChrX:40071058 [GRCh38] ChrX:39930311 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4822C>A (p.Pro1608Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002752041] |
ChrX:40054040 [GRCh38] ChrX:39913293 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3386C>T (p.Thr1129Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003075106] |
ChrX:40064452 [GRCh38] ChrX:39923705 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1862A>G (p.Asn621Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003034971] |
ChrX:40073484 [GRCh38] ChrX:39932737 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3560A>G (p.His1187Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002773398]|not provided [RCV003443149] |
ChrX:40063895 [GRCh38] ChrX:39923148 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.387C>A (p.Pro129=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003074014] |
ChrX:40074959 [GRCh38] ChrX:39934212 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5152C>T (p.Pro1718Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002840770] |
ChrX:40052225 [GRCh38] ChrX:39911478 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.922C>T (p.Gln308Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002996992] |
ChrX:40074424 [GRCh38] ChrX:39933677 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4644A>G (p.Leu1548=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003073713] |
ChrX:40055465 [GRCh38] ChrX:39914718 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.799C>G (p.Leu267Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002819411] |
ChrX:40074547 [GRCh38] ChrX:39933800 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3633G>A (p.Leu1211=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002999455] |
ChrX:40063822 [GRCh38] ChrX:39923075 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2407C>T (p.Leu803Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002692205] |
ChrX:40072939 [GRCh38] ChrX:39932192 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3340G>A (p.Glu1114Lys) |
single nucleotide variant |
BCOR-related disorder [RCV004548388]|Oculofaciocardiodental syndrome [RCV002913147] |
ChrX:40064498 [GRCh38] ChrX:39923751 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2333A>G (p.Asp778Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002925525] |
ChrX:40073013 [GRCh38] ChrX:39932266 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3919G>C (p.Ala1307Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002692240]|Oculofaciocardiodental syndrome [RCV005099562] |
ChrX:40063000 [GRCh38] ChrX:39922253 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.562C>T (p.Arg188Trp) |
single nucleotide variant |
not provided [RCV002510138] |
ChrX:40074784 [GRCh38] ChrX:39934037 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1184A>G (p.Lys395Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002887835] |
ChrX:40074162 [GRCh38] ChrX:39933415 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1233del (p.Lys412fs) |
deletion |
Oculofaciocardiodental syndrome [RCV003019962] |
ChrX:40074113 [GRCh38] ChrX:39933366 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1321C>T (p.Leu441=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002761151] |
ChrX:40074025 [GRCh38] ChrX:39933278 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.935_936delinsCC (p.Gln312Pro) |
indel |
not specified [RCV002510375] |
ChrX:40074410..40074411 [GRCh38] ChrX:39933663..39933664 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2654C>T (p.Ala885Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002827301] |
ChrX:40072692 [GRCh38] ChrX:39931945 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.404C>G (p.Ser135Cys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002643909] |
ChrX:40074942 [GRCh38] ChrX:39934195 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3119A>T (p.Asp1040Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002982434] |
ChrX:40071092 [GRCh38] ChrX:39930345 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2997+12del |
deletion |
Oculofaciocardiodental syndrome [RCV002890244] |
ChrX:40072337 [GRCh38] ChrX:39931590 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2997+12dup |
duplication |
Oculofaciocardiodental syndrome [RCV003005114] |
ChrX:40072336..40072337 [GRCh38] ChrX:39931589..39931590 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002623993]|not provided [RCV005425062] |
ChrX:40064492 [GRCh38] ChrX:39923745 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.2524G>C (p.Val842Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002787994] |
ChrX:40072822 [GRCh38] ChrX:39932075 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.977C>T (p.Pro326Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002918179] |
ChrX:40074369 [GRCh38] ChrX:39933622 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1908C>G (p.Ser636Arg) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002801601] |
ChrX:40073438 [GRCh38] ChrX:39932691 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.986C>G (p.Thr329Arg) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002801602] |
ChrX:40074360 [GRCh38] ChrX:39933613 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3346C>A (p.Pro1116Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002802679] |
ChrX:40064492 [GRCh38] ChrX:39923745 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3485G>A (p.Arg1162His) |
single nucleotide variant |
Inborn genetic diseases [RCV002719469] |
ChrX:40064353 [GRCh38] ChrX:39923606 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3450G>A (p.Glu1150=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003031824] |
ChrX:40064388 [GRCh38] ChrX:39923641 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3747G>C (p.Gly1249=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002900243] |
ChrX:40063708 [GRCh38] ChrX:39922961 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2275A>C (p.Thr759Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002807531]|not provided [RCV003443145] |
ChrX:40073071 [GRCh38] ChrX:39932324 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4578T>C (p.Ser1526=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002600608] |
ChrX:40057172 [GRCh38] ChrX:39916425 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2607T>C (p.Tyr869=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003011160] |
ChrX:40072739 [GRCh38] ChrX:39931992 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4391A>G (p.Glu1464Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002831106] |
ChrX:40062176 [GRCh38] ChrX:39921429 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2551G>T (p.Asp851Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002809465] |
ChrX:40072795 [GRCh38] ChrX:39932048 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.442A>G (p.Ile148Val) |
single nucleotide variant |
Inborn genetic diseases [RCV005310913]|Oculofaciocardiodental syndrome [RCV002598897] |
ChrX:40074904 [GRCh38] ChrX:39934157 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003170770]|Oculofaciocardiodental syndrome [RCV002963172] |
ChrX:40053919 [GRCh38] ChrX:39913172 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.5000C>T (p.Ser1667Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002585032] |
ChrX:40052377 [GRCh38] ChrX:39911630 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3937C>G (p.Pro1313Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002652419] |
ChrX:40062982 [GRCh38] ChrX:39922235 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4262G>A (p.Arg1421His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002588663] |
ChrX:40062305 [GRCh38] ChrX:39921558 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2235G>A (p.Arg745=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003072515] |
ChrX:40073111 [GRCh38] ChrX:39932364 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2691G>T (p.Ser897=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002610975]|not provided [RCV003435881] |
ChrX:40072655 [GRCh38] ChrX:39931908 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.2091C>G (p.Ala697=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003050517] |
ChrX:40073255 [GRCh38] ChrX:39932508 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3689G>C (p.Gly1230Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003211730] |
ChrX:40063766 [GRCh38] ChrX:39923019 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1553A>G (p.Glu518Gly) |
single nucleotide variant |
not provided [RCV003228522] |
ChrX:40073793 [GRCh38] ChrX:39933046 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3239-6C>T |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622384] |
ChrX:40064605 [GRCh38] ChrX:39923858 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2008C>A (p.Pro670Thr) |
single nucleotide variant |
not provided [RCV003319839] |
ChrX:40073338 [GRCh38] ChrX:39932591 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1589A>C (p.Lys530Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003356352] |
ChrX:40073757 [GRCh38] ChrX:39933010 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3897C>A (p.Thr1299=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003623253] |
ChrX:40063022 [GRCh38] ChrX:39922275 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4165G>A (p.Asp1389Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003511357] |
ChrX:40062754 [GRCh38] ChrX:39922007 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3978A>G (p.Glu1326=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003623245] |
ChrX:40062941 [GRCh38] ChrX:39922194 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4406_4412del (p.Arg1469fs) |
deletion |
Oculofaciocardiodental syndrome [RCV003623456] |
ChrX:40062155..40062161 [GRCh38] ChrX:39921408..39921414 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3834T>C (p.Ser1278=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003623621] |
ChrX:40063621 [GRCh38] ChrX:39922874 [GRCh37] ChrX:Xp11.4 |
likely benign |
GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1 |
copy number loss |
not provided [RCV003483418] |
ChrX:24633854..44236178 [GRCh37] ChrX:Xp22.11-11.3 |
pathogenic |
NM_001123385.2(BCOR):c.4741+8A>G |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622704] |
ChrX:40055360 [GRCh38] ChrX:39914613 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2500A>G (p.Ser834Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622833] |
ChrX:40072846 [GRCh38] ChrX:39932099 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 |
copy number loss |
not provided [RCV003483920] |
ChrX:36355238..54106257 [GRCh37] ChrX:Xp21.1-11.22 |
pathogenic |
NM_001123385.2(BCOR):c.3648_3656del (p.Arg1217_Glu1219del) |
deletion |
Oculofaciocardiodental syndrome [RCV003623198] |
ChrX:40063799..40063807 [GRCh38] ChrX:39923052..39923060 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.456G>A (p.Pro152=) |
single nucleotide variant |
BCOR-related disorder [RCV004554288]|Oculofaciocardiodental syndrome [RCV003623238] |
ChrX:40074890 [GRCh38] ChrX:39934143 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2188A>T (p.Ile730Leu) |
single nucleotide variant |
BCOR-related disorder [RCV004552586]|Oculofaciocardiodental syndrome [RCV005099954] |
ChrX:40073158 [GRCh38] ChrX:39932411 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4943C>G (p.Pro1648Arg) |
single nucleotide variant |
not provided [RCV003438079] |
ChrX:40053919 [GRCh38] ChrX:39913172 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2199G>A (p.Thr733=) |
single nucleotide variant |
not provided [RCV003438088] |
ChrX:40073147 [GRCh38] ChrX:39932400 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1563T>A (p.Asn521Lys) |
single nucleotide variant |
not provided [RCV003438089] |
ChrX:40073783 [GRCh38] ChrX:39933036 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123383.1(BCOR):c.-40-27233dup |
duplication |
not provided [RCV003438092] |
ChrX:40105201..40105202 [GRCh38] ChrX:39964454..39964455 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2581C>T (p.Arg861Cys) |
single nucleotide variant |
not provided [RCV003438087] |
ChrX:40072765 [GRCh38] ChrX:39932018 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.777G>A (p.Ser259=) |
single nucleotide variant |
not provided [RCV003438091] |
ChrX:40074569 [GRCh38] ChrX:39933822 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2150A>G (p.Gln717Arg) |
single nucleotide variant |
BCOR-related disorder [RCV004550752] |
ChrX:40073196 [GRCh38] ChrX:39932449 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2172G>C (p.Met724Ile) |
single nucleotide variant |
BCOR-related disorder [RCV004550684] |
ChrX:40073174 [GRCh38] ChrX:39932427 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2351A>T (p.Asn784Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003511040] |
ChrX:40072995 [GRCh38] ChrX:39932248 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1231C>T (p.Arg411Trp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003486025] |
ChrX:40074115 [GRCh38] ChrX:39933368 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3246T>C (p.Tyr1082=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003509121] |
ChrX:40064592 [GRCh38] ChrX:39923845 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.111C>T (p.Asp37=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003509398] |
ChrX:40076508 [GRCh38] ChrX:39935761 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3917A>T (p.Gln1306Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003881659] |
ChrX:40063002 [GRCh38] ChrX:39922255 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.563G>A (p.Arg188Gln) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003511012] |
ChrX:40074783 [GRCh38] ChrX:39934036 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003486026] |
ChrX:40074357 [GRCh38] ChrX:39933610 [GRCh37] ChrX:Xp11.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001123385.2(BCOR):c.831G>A (p.Pro277=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003509159] |
ChrX:40074515 [GRCh38] ChrX:39933768 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3187_3188dup (p.Val1065fs) |
duplication |
Oculofaciocardiodental syndrome [RCV003509420] |
ChrX:40071022..40071023 [GRCh38] ChrX:39930275..39930276 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1024C>G (p.Arg342Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003510817] |
ChrX:40074322 [GRCh38] ChrX:39933575 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4560C>T (p.Gly1520=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003511001] |
ChrX:40057190 [GRCh38] ChrX:39916443 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3090_3091del (p.Glu1032fs) |
deletion |
Oculofaciocardiodental syndrome [RCV003485932] |
ChrX:40071120..40071121 [GRCh38] ChrX:39930373..39930374 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1912A>G (p.Ile638Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003621904] |
ChrX:40073434 [GRCh38] ChrX:39932687 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4595+9T>G |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003845794] |
ChrX:40057146 [GRCh38] ChrX:39916399 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1034T>A (p.Leu345His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622033] |
ChrX:40074312 [GRCh38] ChrX:39933565 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1901C>A (p.Pro634Gln) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622088] |
ChrX:40073445 [GRCh38] ChrX:39932698 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3052-13G>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003858939] |
ChrX:40071172 [GRCh38] ChrX:39930425 [GRCh37] ChrX:Xp11.4 |
benign |
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) |
copy number loss |
not specified [RCV003986240] |
ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1 |
pathogenic |
NM_001123385.2(BCOR):c.1987C>A (p.Pro663Thr) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622062] |
ChrX:40073359 [GRCh38] ChrX:39932612 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) |
copy number loss |
not specified [RCV003986200] |
ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21 |
pathogenic |
NM_001123385.2(BCOR):c.4173+8T>C |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003870733] |
ChrX:40062738 [GRCh38] ChrX:39921991 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5029T>C (p.Ser1677Pro) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003822070] |
ChrX:40052348 [GRCh38] ChrX:39911601 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1557G>C (p.Glu519Asp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622273] |
ChrX:40073789 [GRCh38] ChrX:39933042 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4533C>T (p.Asn1511=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622046] |
ChrX:40057217 [GRCh38] ChrX:39916470 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3758C>T (p.Thr1253Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003841094] |
ChrX:40063697 [GRCh38] ChrX:39922950 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2060C>G (p.Pro687Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004418912] |
ChrX:40073286 [GRCh38] ChrX:39932539 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
NM_001123385.2(BCOR):c.761G>A (p.Gly254Asp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001908130] |
ChrX:40074585 [GRCh38] ChrX:39933838 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4550T>C (p.Leu1517Pro) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002050543] |
ChrX:40057200 [GRCh38] ChrX:39916453 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4770TGA[2] (p.Asp1593del) |
microsatellite |
Oculofaciocardiodental syndrome [RCV001935329] |
ChrX:40054297..40054299 [GRCh38] ChrX:39913550..39913552 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3266G>A (p.Arg1089His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001921189] |
ChrX:40064572 [GRCh38] ChrX:39923825 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3392G>A (p.Arg1131Gln) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV001924760] |
ChrX:40064446 [GRCh38] ChrX:39923699 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5003_5005del (p.Asp1668del) |
deletion |
Oculofaciocardiodental syndrome [RCV001901051] |
ChrX:40052372..40052374 [GRCh38] ChrX:39911625..39911627 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.267C>G (p.Val89=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002165330] |
ChrX:40075079 [GRCh38] ChrX:39934332 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1578G>A (p.Ser526=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002221115] |
ChrX:40073768 [GRCh38] ChrX:39933021 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4173+13C>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002140567] |
ChrX:40062733 [GRCh38] ChrX:39921986 [GRCh37] ChrX:Xp11.4 |
likely benign |
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) |
copy number loss |
Turner syndrome [RCV002280669] |
ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
NM_001123385.2(BCOR):c.2851G>C (p.Asp951His) |
single nucleotide variant |
not provided [RCV002274510] |
ChrX:40072495 [GRCh38] ChrX:39931748 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 |
copy number gain |
not provided [RCV002474503] |
ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22 |
pathogenic |
NM_001123385.2(BCOR):c.1782_1787delinsGTG (p.Ile595_Gln596delinsTrp) |
indel |
not provided [RCV003149240] |
ChrX:40073559..40073564 [GRCh38] ChrX:39932812..39932817 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2461G>A (p.Val821Met) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002970636] |
ChrX:40072885 [GRCh38] ChrX:39932138 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002994377]|Oculofaciocardiodental syndrome [RCV002994378] |
ChrX:40072950 [GRCh38] ChrX:39932203 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.558T>G (p.Tyr186Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002463427] |
ChrX:40074788 [GRCh38] ChrX:39934041 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2764A>G (p.Lys922Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002682358] |
ChrX:40072582 [GRCh38] ChrX:39931835 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3407G>A (p.Arg1136His) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002970783] |
ChrX:40064431 [GRCh38] ChrX:39923684 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4123C>T (p.Arg1375Trp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003095414] |
ChrX:40062796 [GRCh38] ChrX:39922049 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4742-2A>G |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003037535] |
ChrX:40054335 [GRCh38] ChrX:39913588 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.87-19G>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002785614] |
ChrX:40076551 [GRCh38] ChrX:39935804 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4778_4780del (p.Asp1593del) |
deletion |
not provided [RCV002510016] |
ChrX:40054295..40054297 [GRCh38] ChrX:39913548..39913550 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.526C>T (p.Gln176Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002795947] |
ChrX:40074820 [GRCh38] ChrX:39934073 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.1552G>A (p.Glu518Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002822253] |
ChrX:40073794 [GRCh38] ChrX:39933047 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4281A>T (p.Pro1427=) |
single nucleotide variant |
BCOR-related disorder [RCV004550346]|Oculofaciocardiodental syndrome [RCV003022767] |
ChrX:40062286 [GRCh38] ChrX:39921539 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.3782G>C (p.Arg1261Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002697532] |
ChrX:40063673 [GRCh38] ChrX:39922926 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.59T>C (p.Val20Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002625212] |
ChrX:40077871 [GRCh38] ChrX:39937124 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2691G>A (p.Ser897=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002715440] |
ChrX:40072655 [GRCh38] ChrX:39931908 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1449G>A (p.Pro483=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003065385] |
ChrX:40073897 [GRCh38] ChrX:39933150 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.877G>A (p.Val293Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004965249] |
ChrX:40074469 [GRCh38] ChrX:39933722 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3728C>G (p.Pro1243Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004965255] |
ChrX:40063727 [GRCh38] ChrX:39922980 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3936A>G (p.Ala1312=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002676816] |
ChrX:40062983 [GRCh38] ChrX:39922236 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4316C>T (p.Ser1439Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004965250] |
ChrX:40062251 [GRCh38] ChrX:39921504 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4327A>G (p.Thr1443Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV002584719] |
ChrX:40062240 [GRCh38] ChrX:39921493 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2140G>C (p.Val714Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002723769] |
ChrX:40073206 [GRCh38] ChrX:39932459 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2011C>T (p.Leu671Phe) |
single nucleotide variant |
not provided [RCV004777437] |
ChrX:40073335 [GRCh38] ChrX:39932588 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser) |
single nucleotide variant |
BCOR-related disorder [RCV004554047]|Oculofaciocardiodental syndrome [RCV003143762] |
ChrX:40063671 [GRCh38] ChrX:39922924 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3948G>C (p.Arg1316Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003143763] |
ChrX:40062971 [GRCh38] ChrX:39922224 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2172G>T (p.Met724Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003143764] |
ChrX:40073174 [GRCh38] ChrX:39932427 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.650T>C (p.Met217Thr) |
single nucleotide variant |
not provided [RCV003221636] |
ChrX:40074696 [GRCh38] ChrX:39933949 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3944C>G (p.Ser1315Cys) |
single nucleotide variant |
not provided [RCV003319906] |
ChrX:40062975 [GRCh38] ChrX:39922228 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3836A>G (p.Asp1279Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003286891] |
ChrX:40063619 [GRCh38] ChrX:39922872 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3331C>G (p.Pro1111Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003397180] |
ChrX:40064507 [GRCh38] ChrX:39923760 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.112G>A (p.Ala38Thr) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003338134] |
ChrX:40076507 [GRCh38] ChrX:39935760 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003335810] |
ChrX:40072363 [GRCh38] ChrX:39931616 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1526G>A (p.Trp509Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003387553] |
ChrX:40073820 [GRCh38] ChrX:39933073 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3635_3638dup (p.Leu1214fs) |
duplication |
Oculofaciocardiodental syndrome [RCV003333327] |
ChrX:40063816..40063817 [GRCh38] ChrX:39923069..39923070 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3648_3933del286insGCT (p.Arg1217fs) |
indel |
Oculofaciocardiodental syndrome [RCV003623237] |
ChrX:40062986..40063807 [GRCh38] ChrX:39922239..39923060 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2460C>T (p.Asn820=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003623336] |
ChrX:40072886 [GRCh38] ChrX:39932139 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.793A>G (p.Met265Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003623714] |
ChrX:40074553 [GRCh38] ChrX:39933806 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3225C>T (p.Asn1075=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003623816]|not specified [RCV004801386] |
ChrX:40070986 [GRCh38] ChrX:39930239 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.2265C>T (p.Tyr755=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003623857] |
ChrX:40073081 [GRCh38] ChrX:39932334 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.821dup (p.Ala275fs) |
duplication |
Oculofaciocardiodental syndrome [RCV003622738] |
ChrX:40074524..40074525 [GRCh38] ChrX:39933777..39933778 [GRCh37] ChrX:Xp11.4 |
pathogenic |
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 |
copy number loss |
not provided [RCV003483407] |
ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22 |
pathogenic |
NM_001123385.2(BCOR):c.5035A>C (p.Ile1679Leu) |
single nucleotide variant |
not provided [RCV003438078] |
ChrX:40052342 [GRCh38] ChrX:39911595 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2646T>C (p.Ser882=) |
single nucleotide variant |
not provided [RCV003438085] |
ChrX:40072700 [GRCh38] ChrX:39931953 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2609C>G (p.Thr870Ser) |
single nucleotide variant |
not provided [RCV003438086] |
ChrX:40072737 [GRCh38] ChrX:39931990 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4905T>C (p.Asp1635=) |
single nucleotide variant |
not provided [RCV003438080] |
ChrX:40053957 [GRCh38] ChrX:39913210 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4824del (p.Asp1609fs) |
deletion |
BCOR-related disorder [RCV004554092] |
ChrX:40054038 [GRCh38] ChrX:39913291 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.165+2T>C |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV004795640] |
ChrX:40076452 [GRCh38] ChrX:39935705 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.4522G>A (p.Gly1508Ser) |
single nucleotide variant |
not provided [RCV003443346] |
ChrX:40057228 [GRCh38] ChrX:39916481 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.716C>T (p.Thr239Ile) |
single nucleotide variant |
Anterior segment dysgenesis 8 [RCV003389617] |
ChrX:40074630 [GRCh38] ChrX:39933883 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2807C>A (p.Thr936Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005100072]|not provided [RCV003438083] |
ChrX:40072539 [GRCh38] ChrX:39931792 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.1207G>T (p.Ala403Ser) |
single nucleotide variant |
not provided [RCV003438090] |
ChrX:40074139 [GRCh38] ChrX:39933392 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4468G>A (p.Val1490Ile) |
single nucleotide variant |
not provided [RCV003443262] |
ChrX:40057282 [GRCh38] ChrX:39916535 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1083T>C (p.Tyr361=) |
single nucleotide variant |
not provided [RCV003457593] |
ChrX:40074263 [GRCh38] ChrX:39933516 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4694C>T (p.Thr1565Ile) |
single nucleotide variant |
not provided [RCV003438081] |
ChrX:40055415 [GRCh38] ChrX:39914668 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3664G>T (p.Val1222Leu) |
single nucleotide variant |
not provided [RCV003438082] |
ChrX:40063791 [GRCh38] ChrX:39923044 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2650C>G (p.Leu884Val) |
single nucleotide variant |
not provided [RCV003438084] |
ChrX:40072696 [GRCh38] ChrX:39931949 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4140_4141del (p.Glu1382fs) |
deletion |
Oculofaciocardiodental syndrome [RCV003509054] |
ChrX:40062778..40062779 [GRCh38] ChrX:39922031..39922032 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2506G>A (p.Glu836Lys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003510461] |
ChrX:40072840 [GRCh38] ChrX:39932093 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2421C>A (p.Asp807Glu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003511087] |
ChrX:40072925 [GRCh38] ChrX:39932178 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3829C>G (p.Pro1277Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003510060] |
ChrX:40063626 [GRCh38] ChrX:39922879 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4095C>G (p.Thr1365=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003510063] |
ChrX:40062824 [GRCh38] ChrX:39922077 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5027C>T (p.Ser1676Phe) |
single nucleotide variant |
not provided [RCV004588960] |
ChrX:40052350 [GRCh38] ChrX:39911603 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1595T>C (p.Leu532Ser) |
single nucleotide variant |
not provided [RCV004588990] |
ChrX:40073751 [GRCh38] ChrX:39933004 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1260T>A (p.Asp420Glu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003815835] |
ChrX:40074086 [GRCh38] ChrX:39933339 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3893C>T (p.Ser1298Phe) |
single nucleotide variant |
BCOR-related disorder [RCV004554314]|Oculofaciocardiodental syndrome [RCV003622103] |
ChrX:40063026 [GRCh38] ChrX:39922279 [GRCh37] ChrX:Xp11.4 |
benign|likely benign |
NM_001123385.2(BCOR):c.3848-20G>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003622219] |
ChrX:40063091 [GRCh38] ChrX:39922344 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4976+17T>C |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003852948] |
ChrX:40053869 [GRCh38] ChrX:39913122 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2917G>A (p.Val973Met) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003867240] |
ChrX:40072429 [GRCh38] ChrX:39931682 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1306G>A (p.Val436Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003867951] |
ChrX:40074040 [GRCh38] ChrX:39933293 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3801C>G (p.Asn1267Lys) |
single nucleotide variant |
BCOR-related disorder [RCV004548825] |
ChrX:40063654 [GRCh38] ChrX:39922907 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1074C>G (p.His358Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004418910] |
ChrX:40074272 [GRCh38] ChrX:39933525 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2364C>G (p.Asn788Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004418913] |
ChrX:40072982 [GRCh38] ChrX:39932235 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4099C>T (p.His1367Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004418916] |
ChrX:40062820 [GRCh38] ChrX:39922073 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5041C>T (p.Arg1681Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004418919] |
ChrX:40052336 [GRCh38] ChrX:39911589 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1779C>T (p.Ser593=) |
single nucleotide variant |
BCOR-related disorder [RCV004552778] |
ChrX:40073567 [GRCh38] ChrX:39932820 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.86+6T>C |
single nucleotide variant |
BCOR-related disorder [RCV004554354] |
ChrX:40077838 [GRCh38] ChrX:39937091 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4500_4504del (p.Ala1500_Leu1501insTer) |
deletion |
not provided [RCV003887198] |
ChrX:40057246..40057250 [GRCh38] ChrX:39916499..39916503 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.820C>G (p.Pro274Ala) |
single nucleotide variant |
BCOR-related disorder [RCV004550973] |
ChrX:40074526 [GRCh38] ChrX:39933779 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4908G>A (p.Val1636=) |
single nucleotide variant |
BCOR-related disorder [RCV004548851] |
ChrX:40053954 [GRCh38] ChrX:39913207 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1111G>C (p.Ala371Pro) |
single nucleotide variant |
BCOR-related disorder [RCV004548970] |
ChrX:40074235 [GRCh38] ChrX:39933488 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3232G>T (p.Glu1078Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV004555226] |
ChrX:40070979 [GRCh38] ChrX:39930232 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.3120C>T (p.Asp1040=) |
single nucleotide variant |
BCOR-related disorder [RCV004550842] |
ChrX:40071091 [GRCh38] ChrX:39930344 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3348C>T (p.Pro1116=) |
single nucleotide variant |
BCOR-related disorder [RCV004550891]|not provided [RCV005242467] |
ChrX:40064490 [GRCh38] ChrX:39923743 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5052T>G (p.Phe1684Leu) |
single nucleotide variant |
not provided [RCV003887138] |
ChrX:40052325 [GRCh38] ChrX:39911578 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4891G>A (p.Asp1631Asn) |
single nucleotide variant |
BCOR-related disorder [RCV004548905]|Oculofaciocardiodental syndrome [RCV005101597]|not provided [RCV005412616] |
ChrX:40053971 [GRCh38] ChrX:39913224 [GRCh37] ChrX:Xp11.4 |
likely benign|uncertain significance |
NM_001123385.2(BCOR):c.590_591del (p.Glu197fs) |
deletion |
BCOR-related disorder [RCV004548932] |
ChrX:40074755..40074756 [GRCh38] ChrX:39934008..39934009 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.2457_2476delinsTC (p.Asn820_Phe826delinsLeu) |
indel |
not provided [RCV004547179] |
ChrX:40072870..40072889 [GRCh38] ChrX:39932123..39932142 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2382del (p.Lys795fs) |
deletion |
Oculofaciocardiodental syndrome [RCV004577693] |
ChrX:40072964 [GRCh38] ChrX:39932217 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1660A>T (p.Ile554Phe) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV004560362] |
ChrX:40073686 [GRCh38] ChrX:39932939 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3914dup (p.Gln1306fs) |
duplication |
Oculofaciocardiodental syndrome [RCV004577435] |
ChrX:40063004..40063005 [GRCh38] ChrX:39922257..39922258 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.4902C>A (p.Ser1634Arg) |
single nucleotide variant |
not provided [RCV004592084] |
ChrX:40053960 [GRCh38] ChrX:39913213 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.473G>C (p.Ser158Thr) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV004594900] |
ChrX:40074873 [GRCh38] ChrX:39934126 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.2545_2623del (p.His849fs) |
deletion |
Oculofaciocardiodental syndrome [RCV004594898] |
ChrX:40072723..40072801 [GRCh38] ChrX:39931976..39932054 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.3090_3093dup (p.Glu1032fs) |
microsatellite |
BCOR-related disorder [RCV004737767] |
ChrX:40071117..40071118 [GRCh38] ChrX:39930370..39930371 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.928A>G (p.Ser310Gly) |
single nucleotide variant |
not provided [RCV004781112] |
ChrX:40074418 [GRCh38] ChrX:39933671 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3848-1G>C |
single nucleotide variant |
BCOR-related disorder [RCV004737075] |
ChrX:40063072 [GRCh38] ChrX:39922325 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.70G>A (p.Gly24Arg) |
single nucleotide variant |
not provided [RCV004766171] |
ChrX:40077860 [GRCh38] ChrX:39937113 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2065G>A (p.Gly689Ser) |
single nucleotide variant |
not provided [RCV004771950] |
ChrX:40073281 [GRCh38] ChrX:39932534 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4648C>T (p.Leu1550Phe) |
single nucleotide variant |
not provided [RCV004772478] |
ChrX:40055461 [GRCh38] ChrX:39914714 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1516C>T (p.Pro506Ser) |
single nucleotide variant |
not provided [RCV004778979] |
ChrX:40073830 [GRCh38] ChrX:39933083 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3298C>A (p.Leu1100Ile) |
single nucleotide variant |
not provided [RCV004763211] |
ChrX:40064540 [GRCh38] ChrX:39923793 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5032C>G (p.Arg1678Gly) |
single nucleotide variant |
not provided [RCV004773640] |
ChrX:40052345 [GRCh38] ChrX:39911598 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1922C>T (p.Ser641Phe) |
single nucleotide variant |
not provided [RCV004773906] |
ChrX:40073424 [GRCh38] ChrX:39932677 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1562A>G (p.Asn521Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005041779] |
ChrX:40073784 [GRCh38] ChrX:39933037 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.52G>A (p.Glu18Lys) |
single nucleotide variant |
not provided [RCV004820426] |
ChrX:40077878 [GRCh38] ChrX:39937131 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2156C>G (p.Ala719Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004969880] |
ChrX:40073190 [GRCh38] ChrX:39932443 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4087_4088del (p.Cys1363fs) |
microsatellite |
Inborn genetic diseases [RCV004969881] |
ChrX:40062831..40062832 [GRCh38] ChrX:39922084..39922085 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2513C>A (p.Pro838His) |
single nucleotide variant |
Inborn genetic diseases [RCV004969884] |
ChrX:40072833 [GRCh38] ChrX:39932086 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1822C>A (p.His608Asn) |
single nucleotide variant |
not provided [RCV005054756] |
ChrX:40073524 [GRCh38] ChrX:39932777 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1927A>G (p.Asn643Asp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005145897] |
ChrX:40073419 [GRCh38] ChrX:39932672 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3848-12dup |
duplication |
Oculofaciocardiodental syndrome [RCV005145531] |
ChrX:40063082..40063083 [GRCh38] ChrX:39922335..39922336 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.4054G>A (p.Asp1352Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005174830] |
ChrX:40062865 [GRCh38] ChrX:39922118 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3848-1G>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005145758] |
ChrX:40063072 [GRCh38] ChrX:39922325 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.1774C>T (p.Pro592Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005181173] |
ChrX:40073572 [GRCh38] ChrX:39932825 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3365C>T (p.Ser1122Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005198940] |
ChrX:40064473 [GRCh38] ChrX:39923726 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4407G>A (p.Arg1469=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005206436] |
ChrX:40062160 [GRCh38] ChrX:39921413 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4900A>G (p.Ser1634Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005076769] |
ChrX:40053962 [GRCh38] ChrX:39913215 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.720T>C (p.Asn240=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005137068] |
ChrX:40074626 [GRCh38] ChrX:39933879 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1116G>C (p.Leu372=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005176148] |
ChrX:40074230 [GRCh38] ChrX:39933483 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3927A>T (p.Pro1309=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005068758] |
ChrX:40062992 [GRCh38] ChrX:39922245 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3267T>A (p.Arg1089=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005113227] |
ChrX:40064571 [GRCh38] ChrX:39923824 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3051+1G>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005135121] |
ChrX:40071636 [GRCh38] ChrX:39930889 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.4564G>A (p.Asp1522Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005136527] |
ChrX:40057186 [GRCh38] ChrX:39916439 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.358C>T (p.Pro120Ser) |
single nucleotide variant |
not provided [RCV005250678] |
ChrX:40074988 [GRCh38] ChrX:39934241 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2721C>T (p.Ser907=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005181021] |
ChrX:40072625 [GRCh38] ChrX:39931878 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3241G>A (p.Glu1081Lys) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005177258] |
ChrX:40064597 [GRCh38] ChrX:39923850 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4771G>A (p.Asp1591Asn) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005143596] |
ChrX:40054304 [GRCh38] ChrX:39913557 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1686G>A (p.Ser562=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005141901] |
ChrX:40073660 [GRCh38] ChrX:39932913 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3191C>T (p.Ser1064Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005139607] |
ChrX:40071020 [GRCh38] ChrX:39930273 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4571A>G (p.Asn1524Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005164764] |
ChrX:40057179 [GRCh38] ChrX:39916432 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2415C>T (p.Tyr805=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005144533] |
ChrX:40072931 [GRCh38] ChrX:39932184 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.870_875del (p.Lys290_Gly292delinsAsn) |
deletion |
not provided [RCV005234111] |
ChrX:40074471..40074476 [GRCh38] ChrX:39933724..39933729 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2144C>T (p.Thr715Ile) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005142704] |
ChrX:40073202 [GRCh38] ChrX:39932455 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4428+8C>A |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005078216] |
ChrX:40062131 [GRCh38] ChrX:39921384 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3906C>T (p.Gly1302=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005136726] |
ChrX:40063013 [GRCh38] ChrX:39922266 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4982G>A (p.Arg1661Gln) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005191124] |
ChrX:40052395 [GRCh38] ChrX:39911648 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3581T>G (p.Leu1194Arg) |
single nucleotide variant |
not provided [RCV005207437] |
ChrX:40063874 [GRCh38] ChrX:39923127 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3239G>C (p.Cys1080Ser) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005198694] |
ChrX:40064599 [GRCh38] ChrX:39923852 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3239-2A>C |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005198695] |
ChrX:40064601 [GRCh38] ChrX:39923854 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.1233G>A (p.Arg411=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005149856] |
ChrX:40074113 [GRCh38] ChrX:39933366 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3308A>C (p.Glu1103Ala) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005159004] |
ChrX:40064530 [GRCh38] ChrX:39923783 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.64A>C (p.Met22Leu) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005189100] |
ChrX:40077866 [GRCh38] ChrX:39937119 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4782C>T (p.Ala1594=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005130491] |
ChrX:40054293 [GRCh38] ChrX:39913546 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1056C>T (p.Asp352=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005071417] |
ChrX:40074290 [GRCh38] ChrX:39933543 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.909C>T (p.Ala303=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005150706] |
ChrX:40074437 [GRCh38] ChrX:39933690 [GRCh37] ChrX:Xp11.4 |
benign |
NM_001123385.2(BCOR):c.3665_3669dup (p.Ala1224fs) |
duplication |
Oculofaciocardiodental syndrome [RCV005124616] |
ChrX:40063785..40063786 [GRCh38] ChrX:39923038..39923039 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.2491G>A (p.Val831Ile) |
single nucleotide variant |
not provided [RCV005254522] |
ChrX:40072855 [GRCh38] ChrX:39932108 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2320A>T (p.Lys774Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005253301] |
ChrX:40073026 [GRCh38] ChrX:39932279 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.1637G>A (p.Arg546His) |
single nucleotide variant |
not provided [RCV005416921] |
ChrX:40073709 [GRCh38] ChrX:39932962 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3604G>C (p.Gly1202Arg) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005417686] |
ChrX:40063851 [GRCh38] ChrX:39923104 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4389C>T (p.Gly1463=) |
single nucleotide variant |
not provided [RCV005425228] |
ChrX:40062178 [GRCh38] ChrX:39921431 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1120A>T (p.Lys374Ter) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005412081] |
ChrX:40074226 [GRCh38] ChrX:39933479 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.85A>G (p.Arg29Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005417697] |
ChrX:40077845 [GRCh38] ChrX:39937098 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5143G>A (p.Ala1715Thr) |
single nucleotide variant |
not specified [RCV005409103] |
ChrX:40052234 [GRCh38] ChrX:39911487 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5024T>C (p.Met1675Thr) |
single nucleotide variant |
not provided [RCV005413120] |
ChrX:40052353 [GRCh38] ChrX:39911606 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3020G>T (p.Ser1007Ile) |
single nucleotide variant |
not provided [RCV005413818] |
ChrX:40071668 [GRCh38] ChrX:39930921 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3873G>A (p.Pro1291=) |
single nucleotide variant |
not specified [RCV003994995] |
ChrX:40063046 [GRCh38] ChrX:39922299 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4561G>A (p.Ala1521Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004418917] |
ChrX:40057189 [GRCh38] ChrX:39916442 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4799dup (p.Tyr1601fs) |
duplication |
Oculofaciocardiodental syndrome [RCV003885327] |
ChrX:40054275..40054276 [GRCh38] ChrX:39913528..39913529 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.5014A>G (p.Lys1672Glu) |
single nucleotide variant |
BCOR-related disorder [RCV004548907] |
ChrX:40052363 [GRCh38] ChrX:39911616 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1579C>A (p.Leu527Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004418911] |
ChrX:40073767 [GRCh38] ChrX:39933020 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3372G>A (p.Met1124Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004418914] |
ChrX:40064466 [GRCh38] ChrX:39923719 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3650G>A (p.Arg1217Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004418915] |
ChrX:40063805 [GRCh38] ChrX:39923058 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4828G>C (p.Asp1610His) |
single nucleotide variant |
Inborn genetic diseases [RCV004418918] |
ChrX:40054034 [GRCh38] ChrX:39913287 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5057A>G (p.Asn1686Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004418920] |
ChrX:40052320 [GRCh38] ChrX:39911573 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5240G>T (p.Ser1747Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004418921] |
ChrX:40052137 [GRCh38] ChrX:39911390 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4904A>G (p.Asp1635Gly) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV003991267] |
ChrX:40053958 [GRCh38] ChrX:39913211 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
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_001123385.2(BCOR):c.3424A>G (p.Ser1142Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004605898] |
ChrX:40064414 [GRCh38] ChrX:39923667 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5129C>A (p.Ser1710Tyr) |
single nucleotide variant |
not provided [RCV004592240] |
ChrX:40052248 [GRCh38] ChrX:39911501 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3488G>A (p.Arg1163Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004605897] |
ChrX:40064350 [GRCh38] ChrX:39923603 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4957_4968delinsTTACCATGTTATAACAT (p.Gln1653fs) |
indel |
not provided [RCV004576104] |
ChrX:40053894..40053905 [GRCh38] ChrX:39913147..39913158 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.2429G>T (p.Arg810Leu) |
single nucleotide variant |
not provided [RCV004598615] |
ChrX:40072917 [GRCh38] ChrX:39932170 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4756C>T (p.Leu1586Phe) |
single nucleotide variant |
not provided [RCV004729530] |
ChrX:40054319 [GRCh38] ChrX:39913572 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1026A>G (p.Arg342=) |
single nucleotide variant |
not provided [RCV004811654] |
ChrX:40074320 [GRCh38] ChrX:39933573 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.590A>G (p.Glu197Gly) |
single nucleotide variant |
BCOR-related disorder [RCV004737705] |
ChrX:40074756 [GRCh38] ChrX:39934009 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.793A>T (p.Met265Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004965254] |
ChrX:40074553 [GRCh38] ChrX:39933806 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4472A>G (p.Asn1491Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004965253] |
ChrX:40057278 [GRCh38] ChrX:39916531 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.472del (p.Ser158fs) |
deletion |
Inborn genetic diseases [RCV004965252] |
ChrX:40074874 [GRCh38] ChrX:39934127 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.1767A>C (p.Glu589Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004965251] |
ChrX:40073579 [GRCh38] ChrX:39932832 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.494C>T (p.Ala165Val) |
single nucleotide variant |
BCOR-related disorder [RCV004736783] |
ChrX:40074852 [GRCh38] ChrX:39934105 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.4198C>T (p.Arg1400Trp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005049831] |
ChrX:40062369 [GRCh38] ChrX:39921622 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1634del (p.Pro545fs) |
deletion |
Oculofaciocardiodental syndrome [RCV005049832] |
ChrX:40073712 [GRCh38] ChrX:39932965 [GRCh37] ChrX:Xp11.4 |
likely pathogenic |
NM_001123385.2(BCOR):c.283G>A (p.Gly95Arg) |
single nucleotide variant |
not provided [RCV005001751] |
ChrX:40075063 [GRCh38] ChrX:39934316 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1 |
copy number loss |
not provided [RCV004819405] |
ChrX:15392463..48777470 [GRCh37] ChrX:Xp22.2-11.23 |
pathogenic |
NM_001123385.2(BCOR):c.274del (p.Ser92fs) |
deletion |
Oculofaciocardiodental syndrome [RCV005001965] |
ChrX:40075072 [GRCh38] ChrX:39934325 [GRCh37] ChrX:Xp11.4 |
pathogenic |
NM_001123385.2(BCOR):c.727C>T (p.Arg243Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004969883]|Oculofaciocardiodental syndrome [RCV005110031] |
ChrX:40074619 [GRCh38] ChrX:39933872 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2577G>A (p.Leu859=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005174742] |
ChrX:40072769 [GRCh38] ChrX:39932022 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.5096G>A (p.Arg1699Gln) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005060155] |
ChrX:40052281 [GRCh38] ChrX:39911534 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.1500A>C (p.Glu500Asp) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005197003] |
ChrX:40073846 [GRCh38] ChrX:39933099 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2997+11C>G |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005190965] |
ChrX:40072338 [GRCh38] ChrX:39931591 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3239-14C>T |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005136787] |
ChrX:40064613 [GRCh38] ChrX:39923866 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3447G>A (p.Ala1149=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005137146] |
ChrX:40064391 [GRCh38] ChrX:39923644 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.174G>A (p.Ala58=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005201113] |
ChrX:40075172 [GRCh38] ChrX:39934425 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1305C>T (p.Asp435=) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005071046] |
ChrX:40074041 [GRCh38] ChrX:39933294 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.3920C>T (p.Ala1307Val) |
single nucleotide variant |
Oculofaciocardiodental syndrome [RCV005179620] |
ChrX:40062999 [GRCh38] ChrX:39922252 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.913C>T (p.Pro305Ser) |
single nucleotide variant |
not provided [RCV005368235] |
ChrX:40074433 [GRCh38] ChrX:39933686 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2349G>C (p.Lys783Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV005314293] |
ChrX:40072997 [GRCh38] ChrX:39932250 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.2360C>T (p.Pro787Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV005314296] |
ChrX:40072986 [GRCh38] ChrX:39932239 [GRCh37] ChrX:Xp11.4 |
likely benign |
NM_001123385.2(BCOR):c.1261G>A (p.Gly421Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005314294] |
ChrX:40074085 [GRCh38] ChrX:39933338 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.3566G>C (p.Ser1189Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV005314295] |
ChrX:40063889 [GRCh38] ChrX:39923142 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.4241A>G (p.Gln1414Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV005305774] |
ChrX:40062326 [GRCh38] ChrX:39921579 [GRCh37] ChrX:Xp11.4 |
uncertain significance |
NM_001123385.2(BCOR):c.5030C>T (p.Ser1677Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV005305775] |
ChrX:40052347 [GRCh38] ChrX:39911600 [GRCh37] ChrX:Xp11.4 |
uncertain significance |