NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000553165] |
Chr11:44108141 [GRCh38] Chr11:44129691 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000551058]|not provided [RCV003392384] |
Chr11:44206861 [GRCh38] Chr11:44228411 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.454_457del (p.Val154fs) |
microsatellite |
EXT2-related condition [RCV003415629]|Exostoses, multiple, type 2 [RCV000002575] |
Chr11:44108162..44108165 [GRCh38] Chr11:44129712..44129715 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000002576]|Exostoses, multiple, type 2 [RCV000762843]|Hereditary cancer-predisposing syndrome [RCV000850054]|not provided [RCV000255256] |
Chr11:44108226 [GRCh38] Chr11:44129776 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1305+1G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000002577] |
Chr11:44171743 [GRCh38] Chr11:44193293 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000002578]|Exostoses, multiple, type 2 [RCV002490297]|Seizures-scoliosis-macrocephaly syndrome [RCV000791300]|not provided [RCV001091958] |
Chr11:44114237 [GRCh38] Chr11:44135787 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter) |
single nucleotide variant |
EXT2-related condition [RCV003894785]|Exostoses, multiple, type 2 [RCV000002579] |
Chr11:44114224 [GRCh38] Chr11:44135774 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.772C>T (p.Gln258Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000002580] |
Chr11:44124817 [GRCh38] Chr11:44146367 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.744-2A>C |
single nucleotide variant |
EXT2-related condition [RCV003398422]|Exostoses, multiple, type 2 [RCV000002581] |
Chr11:44124787 [GRCh38] Chr11:44146337 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001292607] |
Chr11:44126850 [GRCh38] Chr11:44148400 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1806+9del |
deletion |
Exostoses, multiple, type 2 [RCV000525083] |
Chr11:44232501 [GRCh38] Chr11:44254051 [GRCh37] Chr11:11p11.2 |
benign |
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 |
copy number loss |
See cases [RCV000052679] |
Chr11:35663578..46959820 [GRCh38] Chr11:35685126..46981371 [GRCh37] Chr11:35641702..46937947 [NCBI36] Chr11:11p13-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] |
Chr11:36508280..48643003 [GRCh38] Chr11:36529830..48664555 [GRCh37] Chr11:36486406..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1 |
copy number loss |
See cases [RCV000052681] |
Chr11:44136593..46121139 [GRCh38] Chr11:44158143..46142690 [GRCh37] Chr11:44114719..46099266 [NCBI36] Chr11:11p11.2 |
pathogenic |
GRCh38/hg38 11p11.2(chr11:44114130-44171722)x1 |
copy number loss |
See cases [RCV000053256] |
Chr11:44114130..44171722 [GRCh38] Chr11:44135680..44193272 [GRCh37] Chr11:44092256..44149848 [NCBI36] Chr11:11p11.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 11p11.2(chr11:44197767-44660566)x3 |
copy number gain |
See cases [RCV000053618] |
Chr11:44197767..44660566 [GRCh38] Chr11:44219317..44682116 [GRCh37] Chr11:44175893..44638692 [NCBI36] Chr11:11p11.2 |
pathogenic |
NM_000401.3(EXT2):c.2156C>T (p.Thr719Ile) |
single nucleotide variant |
Malignant melanoma [RCV000069355] |
Chr11:44244187 [GRCh38] Chr11:44265737 [GRCh37] Chr11:44222313 [NCBI36] Chr11:11p11.2 |
not provided |
NM_000401.3(EXT2):c.126C>T (p.Ile42=) |
single nucleotide variant |
Malignant melanoma [RCV000062211] |
Chr11:44107739 [GRCh38] Chr11:44129289 [GRCh37] Chr11:44085865 [NCBI36] Chr11:11p11.2 |
not provided |
NM_000401.3(EXT2):c.2034+872C>T |
single nucleotide variant |
Lung cancer [RCV000110085] |
Chr11:44235115 [GRCh38] Chr11:44256665 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001104529]|Seizures-scoliosis-macrocephaly syndrome [RCV000660595] |
Chr11:44126895 [GRCh38] Chr11:44148445 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1712A>G (p.His571Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467080]|not specified [RCV000120876] |
Chr11:44232402 [GRCh38] Chr11:44253952 [GRCh37] Chr11:11p11.2 |
uncertain significance|not provided |
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) |
single nucleotide variant |
EXT2-related condition [RCV003905152]|Exostoses, multiple, type 2 [RCV000988532]|not provided [RCV000725983]|not specified [RCV000120877] |
Chr11:44232450 [GRCh38] Chr11:44254000 [GRCh37] Chr11:11p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000806392]|Seizures-scoliosis-macrocephaly syndrome [RCV000660594]|not specified [RCV000120878] |
Chr11:44234224 [GRCh38] Chr11:44255774 [GRCh37] Chr11:11p11.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603042]|not specified [RCV000120879] |
Chr11:44244183 [GRCh38] Chr11:44265733 [GRCh37] Chr11:11p11.2 |
uncertain significance|not provided |
NM_207122.2(EXT2):c.124A>G (p.Met42Val) |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003315753]|Exostoses, multiple, type 2 [RCV001086119]|not provided [RCV000514384]|not specified [RCV000120880] |
Chr11:44107836 [GRCh38] Chr11:44129386 [GRCh37] Chr11:11p11.2 |
benign|likely benign|not provided |
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) |
single nucleotide variant |
EXT2-related condition [RCV003925188]|Exostoses, multiple, type 2 [RCV001068751]|not provided [RCV003237723]|not specified [RCV000120881] |
Chr11:44108232 [GRCh38] Chr11:44129782 [GRCh37] Chr11:11p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_207122.2(EXT2):c.232C>G (p.Pro78Ala) |
single nucleotide variant |
not specified [RCV000120882] |
Chr11:44107944 [GRCh38] Chr11:44129494 [GRCh37] Chr11:11p11.2 |
not provided |
NM_207122.2(EXT2):c.423C>G (p.Asp141Glu) |
single nucleotide variant |
not specified [RCV000120883] |
Chr11:44108135 [GRCh38] Chr11:44129685 [GRCh37] Chr11:11p11.2 |
not provided |
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000988530]|not provided [RCV001705882]|not specified [RCV000120884] |
Chr11:44107972 [GRCh38] Chr11:44129522 [GRCh37] Chr11:11p11.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided |
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000988531]|not provided [RCV001573448]|not specified [RCV000120885] |
Chr11:44114268 [GRCh38] Chr11:44135818 [GRCh37] Chr11:11p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001770093]|not provided [RCV003237724]|not specified [RCV000120886] |
Chr11:44114298 [GRCh38] Chr11:44135848 [GRCh37] Chr11:11p11.2 |
uncertain significance|not provided |
NM_207122.2(EXT2):c.896G>A (p.Arg299His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000945936]|not specified [RCV000120887] |
Chr11:44124941 [GRCh38] Chr11:44146491 [GRCh37] Chr11:11p11.2 |
benign|likely benign|not provided |
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000763739]|Exostoses, multiple, type 2 [RCV000795903]|not provided [RCV000766600]|not specified [RCV000120888] |
Chr11:44126898 [GRCh38] Chr11:44148448 [GRCh37] Chr11:11p11.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001089229]|not provided [RCV000724066]|not specified [RCV000120889] |
Chr11:44130088 [GRCh38] Chr11:44151638 [GRCh37] Chr11:11p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000878566]|not provided [RCV001711289]|not specified [RCV000120890] |
Chr11:44130075 [GRCh38] Chr11:44151625 [GRCh37] Chr11:11p11.2 |
benign|likely benign|not provided |
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) |
single nucleotide variant |
EXT2-related condition [RCV003965013]|Exostoses, multiple, type 2 [RCV001086749]|Seizures-scoliosis-macrocephaly syndrome [RCV000785179]|not provided [RCV000728389]|not specified [RCV000120891] |
Chr11:44171615 [GRCh38] Chr11:44193165 [GRCh37] Chr11:11p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_207122.2(EXT2):c.1173+14131G>A |
single nucleotide variant |
not specified [RCV000120892] |
Chr11:44144269 [GRCh38] Chr11:44165819 [GRCh37] Chr11:11p11.2 |
not provided |
NM_207122.2(EXT2):c.28C>A (p.Arg10=) |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316077]|Exostoses, multiple, type 2 [RCV000549673]|not provided [RCV001675655]|not specified [RCV000176015] |
Chr11:44107740 [GRCh38] Chr11:44129290 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002187821] |
Chr11:44234220 [GRCh38] Chr11:44255770 [GRCh37] Chr11:11p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.1080-18T>A |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316079]|Exostoses, multiple, type 2 [RCV001513854]|Seizures-scoliosis-macrocephaly syndrome [RCV001701545]|not provided [RCV001640272]|not specified [RCV000180027] |
Chr11:44130027 [GRCh38] Chr11:44151577 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) |
single nucleotide variant |
EXT2-related condition [RCV003416156]|Exostoses, multiple, type 2 [RCV001292629] |
Chr11:44232375 [GRCh38] Chr11:44253925 [GRCh37] Chr11:11p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107946]|Inborn genetic diseases [RCV002516605]|not provided [RCV000173928] |
Chr11:44206831 [GRCh38] Chr11:44228381 [GRCh37] Chr11:11p11.2 |
benign|likely benign|uncertain significance |
GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3 |
copy number gain |
See cases [RCV000133775] |
Chr11:40688674..44913409 [GRCh38] Chr11:40710224..44934960 [GRCh37] Chr11:40666800..44891536 [NCBI36] Chr11:11p12-11.2 |
uncertain significance |
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 |
copy number loss |
See cases [RCV000135405] |
Chr11:41118322..48643003 [GRCh38] Chr11:41139872..48664555 [GRCh37] Chr11:41096448..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p11.2(chr11:44130090-44206877)x3 |
copy number gain |
See cases [RCV000134989] |
Chr11:44130090..44206877 [GRCh38] Chr11:44151640..44228427 [GRCh37] Chr11:44108216..44185003 [NCBI36] Chr11:11p11.2 |
likely benign |
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 |
copy number loss |
See cases [RCV000137391] |
Chr11:39179252..49135735 [GRCh38] Chr11:39200802..49157287 [GRCh37] Chr11:39157378..49113863 [NCBI36] Chr11:11p12-11.12 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3 |
copy number gain |
See cases [RCV000138110] |
Chr11:40688674..44184136 [GRCh38] Chr11:40710224..44205686 [GRCh37] Chr11:40666800..44162262 [NCBI36] Chr11:11p12-11.2 |
likely pathogenic |
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 |
copy number gain |
See cases [RCV000139422] |
Chr11:42727555..49135735 [GRCh38] Chr11:42749105..49157287 [GRCh37] Chr11:42705681..49113863 [NCBI36] Chr11:11p12-11.12 |
likely pathogenic |
GRCh38/hg38 11p11.2(chr11:44214049-44234152)x3 |
copy number gain |
See cases [RCV000138942] |
Chr11:44214049..44234152 [GRCh38] Chr11:44235599..44255702 [GRCh37] Chr11:44192175..44212278 [NCBI36] Chr11:11p11.2 |
uncertain significance |
GRCh38/hg38 11p11.2(chr11:44146437-44175772)x3 |
copy number gain |
See cases [RCV000139791] |
Chr11:44146437..44175772 [GRCh38] Chr11:44167987..44197322 [GRCh37] Chr11:44124563..44153898 [NCBI36] Chr11:11p11.2 |
likely pathogenic |
GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 |
copy number loss |
See cases [RCV000142289] |
Chr11:42553659..46114792 [GRCh38] Chr11:42575209..46136343 [GRCh37] Chr11:42531785..46092919 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1 |
copy number loss |
See cases [RCV000142439] |
Chr11:39684826..44845260 [GRCh38] Chr11:39706376..44866811 [GRCh37] Chr11:39662952..44823387 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
NM_207122.2(EXT2):c.284G>A (p.Arg95His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000324486]|not provided [RCV000176016] |
Chr11:44107996 [GRCh38] Chr11:44129546 [GRCh37] Chr11:11p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) |
single nucleotide variant |
EXT2-related condition [RCV003930032]|Exostoses, multiple, type 2 [RCV000552959]|not provided [RCV000254724] |
Chr11:44124982 [GRCh38] Chr11:44146532 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.743+1G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001211363]|not provided [RCV000254884] |
Chr11:44114302 [GRCh38] Chr11:44135852 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) |
single nucleotide variant |
EXT2-related condition [RCV003920167]|Exostoses, multiple, type 2 [RCV001087952]|not provided [RCV000371715] |
Chr11:44206942 [GRCh38] Chr11:44228492 [GRCh37] Chr11:11p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001859484]|not provided [RCV000255455] |
Chr11:44109196 [GRCh38] Chr11:44130746 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.*56G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000359383]|not specified [RCV000246199] |
Chr11:44244343 [GRCh38] Chr11:44265893 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.1936-41T>C |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316459]|Exostoses, multiple, type 2 [RCV001513856]|not provided [RCV001610763]|not specified [RCV000251858] |
Chr11:44236252 [GRCh38] Chr11:44257802 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV003603046]|not provided [RCV000255786] |
Chr11:44107797..44107798 [GRCh38] Chr11:44129347..44129348 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.580G>T (p.Gly194Ter) |
single nucleotide variant |
not provided [RCV000255819] |
Chr11:44109237 [GRCh38] Chr11:44130787 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000707279]|not provided [RCV000255822] |
Chr11:44109201 [GRCh38] Chr11:44130751 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1663-566A>G |
single nucleotide variant |
not specified [RCV000247500] |
Chr11:44231787 [GRCh38] Chr11:44253337 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1663-500G>C |
single nucleotide variant |
not specified [RCV000242715] |
Chr11:44231853 [GRCh38] Chr11:44253403 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1174-18G>T |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316458]|Exostoses, multiple, type 2 [RCV002058489]|not provided [RCV001711758]|not specified [RCV000243127] |
Chr11:44171593 [GRCh38] Chr11:44193143 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001081789]|Inborn genetic diseases [RCV002518674]|not provided [RCV000726040]|not specified [RCV000250542] |
Chr11:44206885 [GRCh38] Chr11:44228435 [GRCh37] Chr11:11p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NC_000011.10:g.(?_44171591)_(44171762_?)del |
deletion |
Exostoses, multiple, type 2 [RCV000551540] |
Chr11:44171591..44171762 [GRCh38] Chr11:44193141..44193312 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.264C>T (p.His88=) |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316469]|Exostoses, multiple, type 2 [RCV000641567]|not specified [RCV000418864] |
Chr11:44107976 [GRCh38] Chr11:44129526 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.1(EXT2):c.-307G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000302488] |
Chr11:44095576 [GRCh38] Chr11:44117126 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316476]|Exostoses, multiple, type 2 [RCV000641569] |
Chr11:44232451 [GRCh38] Chr11:44254001 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.1(EXT2):c.-311G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000400767] |
Chr11:44095572 [GRCh38] Chr11:44117122 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.*101G>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000305940] |
Chr11:44244388 [GRCh38] Chr11:44265938 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.205G>A (p.Val69Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000273090] |
Chr11:44107917 [GRCh38] Chr11:44129467 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000328182]|not provided [RCV001355388] |
Chr11:44107957 [GRCh38] Chr11:44129507 [GRCh37] Chr11:11p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.1806+11G>A |
single nucleotide variant |
EXT2-related condition [RCV003967875]|Exostoses, multiple, type 2 [RCV000289298] |
Chr11:44232507 [GRCh38] Chr11:44254057 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.*3C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000309323] |
Chr11:44244290 [GRCh38] Chr11:44265840 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.-31+7G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000356448]|not provided [RCV001597056]|not specified [RCV001731473] |
Chr11:44095859 [GRCh38] Chr11:44117409 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000357557] |
Chr11:44130074 [GRCh38] Chr11:44151624 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.-26G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000261574] |
Chr11:44107687 [GRCh38] Chr11:44129237 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.-148G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000408028] |
Chr11:44095735 [GRCh38] Chr11:44117285 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.*129C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000360683] |
Chr11:44244416 [GRCh38] Chr11:44265966 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.*795C>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000276948] |
Chr11:44245082 [GRCh38] Chr11:44266632 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.-61C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000296956] |
Chr11:44095822 [GRCh38] Chr11:44117372 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.*139C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000260599] |
Chr11:44244426 [GRCh38] Chr11:44265976 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) |
single nucleotide variant |
EXT2-related condition [RCV003910118]|Exostoses, multiple, type 1 [RCV003316475]|Exostoses, multiple, type 2 [RCV000278607] |
Chr11:44171645 [GRCh38] Chr11:44193195 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.*472C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000261648] |
Chr11:44244759 [GRCh38] Chr11:44266309 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.-197C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000341020] |
Chr11:44095686 [GRCh38] Chr11:44117236 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316473]|Exostoses, multiple, type 2 [RCV001083101]|Exostoses, multiple, type 2 [RCV002504063]|not provided [RCV000514143] |
Chr11:44126893 [GRCh38] Chr11:44148443 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.965G>A (p.Arg322His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000954702]|not provided [RCV003237816] |
Chr11:44126841 [GRCh38] Chr11:44148391 [GRCh37] Chr11:11p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.805C>T (p.Leu269=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000281117] |
Chr11:44124850 [GRCh38] Chr11:44146400 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) |
single nucleotide variant |
EXT2-related condition [RCV003391070]|Exostoses, multiple, type 1 [RCV003316474]|Exostoses, multiple, type 2 [RCV000821752] |
Chr11:44130052 [GRCh38] Chr11:44151602 [GRCh37] Chr11:11p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.1935+11C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000344176] |
Chr11:44234254 [GRCh38] Chr11:44255804 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_207122.2(EXT2):c.918C>T (p.Phe306=) |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316471]|Exostoses, multiple, type 2 [RCV000877863]|not specified [RCV000429150] |
Chr11:44124963 [GRCh38] Chr11:44146513 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001859674]|Exostoses, multiple, type 2 [RCV002487253]|not provided [RCV000378883] |
Chr11:44114256 [GRCh38] Chr11:44135806 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.398_401dup (p.Met135fs) |
duplication |
Exostoses, multiple, type 2 [RCV000527949]|not provided [RCV000300307] |
Chr11:44108109..44108110 [GRCh38] Chr11:44129659..44129660 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000371317]|Seizures-scoliosis-macrocephaly syndrome [RCV000663343] |
Chr11:44107723 [GRCh38] Chr11:44129273 [GRCh37] Chr11:11p11.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
NM_207122.2(EXT2):c.999T>C (p.Asp333=) |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316472]|Exostoses, multiple, type 2 [RCV000861254]|not provided [RCV001764271] |
Chr11:44126875 [GRCh38] Chr11:44148425 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.849C>T (p.Leu283=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000350276] |
Chr11:44124894 [GRCh38] Chr11:44146444 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1641C>T (p.Asp547=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000861222] |
Chr11:44206938 [GRCh38] Chr11:44228488 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.*646C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000330870] |
Chr11:44244933 [GRCh38] Chr11:44266483 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.744-10T>G |
single nucleotide variant |
EXT2-related condition [RCV003950018]|Exostoses, multiple, type 2 [RCV000878638] |
Chr11:44124779 [GRCh38] Chr11:44146329 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.519G>C (p.Ala173=) |
single nucleotide variant |
Exostoses, multiple, type 1 [RCV003316470]|Exostoses, multiple, type 2 [RCV000527721]|Exostoses, multiple, type 2 [RCV002502205]|not provided [RCV003391069] |
Chr11:44108231 [GRCh38] Chr11:44129781 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.906_907dup (p.His303fs) |
duplication |
Exostoses, multiple, type 2 [RCV000542457]|Exostoses, multiple, type 2 [RCV002500966]|not provided [RCV000347827] |
Chr11:44124950..44124951 [GRCh38] Chr11:44146500..44146501 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.*802A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000333009] |
Chr11:44245089 [GRCh38] Chr11:44266639 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.8C>T (p.Ala3Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000312112] |
Chr11:44107720 [GRCh38] Chr11:44129270 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.1(EXT2):c.-331T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000342075] |
Chr11:44095552 [GRCh38] Chr11:44117102 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1062A>C (p.Glu354Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003266889] |
Chr11:44126938 [GRCh38] Chr11:44148488 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.56del (p.Lys19fs) |
deletion |
not provided [RCV000489944] |
Chr11:44107767 [GRCh38] Chr11:44129317 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.*945G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000382878] |
Chr11:44245232 [GRCh38] Chr11:44266782 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*731A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000385286] |
Chr11:44245018 [GRCh38] Chr11:44266568 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*1153A>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000341014] |
Chr11:44245440 [GRCh38] Chr11:44266990 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000319393] |
Chr11:44171728 [GRCh38] Chr11:44193278 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*368C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000297029] |
Chr11:44244655 [GRCh38] Chr11:44266205 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000391463] |
Chr11:44124905 [GRCh38] Chr11:44146455 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*93G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000392578] |
Chr11:44244380 [GRCh38] Chr11:44265930 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*381T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000356530] |
Chr11:44244668 [GRCh38] Chr11:44266218 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000327205] |
Chr11:44107743 [GRCh38] Chr11:44129293 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) |
microsatellite |
Exostoses, multiple, type 2 [RCV002291615]|Hereditary Multiple Osteochondromatosis [RCV000398317] |
Chr11:44244161..44244163 [GRCh38] Chr11:44265711..44265713 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.626+1G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001062683]|not provided [RCV000599186] |
Chr11:44109284 [GRCh38] Chr11:44130834 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.785dup (p.His262fs) |
duplication |
Exostoses, multiple, type 2 [RCV003497859]|not provided [RCV000599420] |
Chr11:44124829..44124830 [GRCh38] Chr11:44146379..44146380 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del) |
deletion |
Exostoses, multiple, type 2 [RCV000641562]|not provided [RCV002259359] |
Chr11:44109210..44109215 [GRCh38] Chr11:44130760..44130765 [GRCh37] Chr11:11p11.2 |
likely pathogenic|uncertain significance |
NM_207122.2(EXT2):c.1132C>T (p.Gln378Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000641566] |
Chr11:44130097 [GRCh38] Chr11:44151647 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.636G>T (p.Leu212Phe) |
single nucleotide variant |
not provided [RCV000732835] |
Chr11:44114194 [GRCh38] Chr11:44135744 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1479T>G (p.Asn493Lys) |
single nucleotide variant |
not provided [RCV000522730] |
Chr11:44198002 [GRCh38] Chr11:44219552 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 |
copy number loss |
See cases [RCV000446383] |
Chr11:42475897..48372559 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
NM_207122.2(EXT2):c.626+1G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497846]|not provided [RCV000443576] |
Chr11:44109284 [GRCh38] Chr11:44130834 [GRCh37] Chr11:11p11.2 |
pathogenic|likely pathogenic |
NM_207122.2(EXT2):c.2155T>G (p.Ter719Gly) |
single nucleotide variant |
not provided [RCV000423394] |
Chr11:44244285 [GRCh38] Chr11:44265835 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) |
single nucleotide variant |
EXT2-related condition [RCV003972662]|Exostoses, multiple, type 2 [RCV001104530]|not specified [RCV000440276] |
Chr11:44126899 [GRCh38] Chr11:44148449 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 |
copy number loss |
See cases [RCV000445800] |
Chr11:29238811..45494063 [GRCh37] Chr11:11p14.1-11.2 |
pathogenic |
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 |
copy number gain |
See cases [RCV000448603] |
Chr11:26574629..50508019 [GRCh37] Chr11:11p14.2-11.12 |
pathogenic |
NM_207122.2(EXT2):c.627-2A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001204484]|not provided [RCV000484382] |
Chr11:44114183 [GRCh38] Chr11:44135733 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1929del (p.Ile644fs) |
deletion |
not provided [RCV000478833] |
Chr11:44234236 [GRCh38] Chr11:44255786 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1021C>A (p.Pro341Thr) |
single nucleotide variant |
not provided [RCV000493494] |
Chr11:44126897 [GRCh38] Chr11:44148447 [GRCh37] Chr11:11p11.2 |
not provided |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_207122.2(EXT2):c.245dup (p.Asp82fs) |
duplication |
Exostoses, multiple, type 2 [RCV000793276]|not provided [RCV000524058] |
Chr11:44107956..44107957 [GRCh38] Chr11:44129506..44129507 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.10:g.(?_44206773)_(44206979_?)del |
deletion |
Exostoses, multiple, type 2 [RCV000557143] |
Chr11:44206773..44206979 [GRCh38] Chr11:44228323..44228529 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.244del (p.Asp82fs) |
deletion |
Exostoses, multiple, type 2 [RCV000535208] |
Chr11:44107951 [GRCh38] Chr11:44129501 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.928C>T (p.Gln310Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000641563] |
Chr11:44124973 [GRCh38] Chr11:44146523 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1074G>A (p.Trp358Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000641565] |
Chr11:44126950 [GRCh38] Chr11:44148500 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.10:g.(?_44144227)_(44198038_?)del |
deletion |
Exostoses, multiple, type 2 [RCV000641572] |
Chr11:44144227..44198038 [GRCh38] Chr11:44165777..44219588 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.512C>A (p.Ala171Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003255505] |
Chr11:44108224 [GRCh38] Chr11:44129774 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1182G>A (p.Trp394Ter) |
single nucleotide variant |
not provided [RCV000524064] |
Chr11:44171619 [GRCh38] Chr11:44193169 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.408C>T (p.Ala136=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002060324] |
Chr11:44108120 [GRCh38] Chr11:44129670 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000641564]|not provided [RCV001268416] |
Chr11:44107779 [GRCh38] Chr11:44129329 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.979G>C (p.Gly327Arg) |
single nucleotide variant |
not provided [RCV001760632] |
Chr11:44126855 [GRCh38] Chr11:44148405 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1173+2T>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000702149] |
Chr11:44130140 [GRCh38] Chr11:44151690 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1740G>A (p.Trp580Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000693656] |
Chr11:44232430 [GRCh38] Chr11:44253980 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000689474]|not provided [RCV001091957] |
Chr11:44114228 [GRCh38] Chr11:44135778 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1079+1G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000689685] |
Chr11:44126956 [GRCh38] Chr11:44148506 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.10:g.(?_44107663)_(44130158_?)del |
deletion |
Exostoses, multiple, type 2 [RCV000707784] |
Chr11:44107663..44130158 [GRCh38] Chr11:44129213..44151708 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000703422]|Exostoses, multiple, type 2 [RCV000762844]|not provided [RCV001169930] |
Chr11:44197916 [GRCh38] Chr11:44219466 [GRCh37] Chr11:11p11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV000705945] |
Chr11:44108071..44108072 [GRCh38] Chr11:44129621..44129622 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.10:g.(?_44206793)_(44206959_?)del |
deletion |
Exostoses, multiple, type 2 [RCV000708420] |
Chr11:44206793..44206959 [GRCh38] Chr11:44228343..44228509 [GRCh37] Chr11:11p11.2 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:43769206-44958891)x1 |
copy number loss |
not provided [RCV000750024] |
Chr11:43769206..44958891 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.484C>T (p.Gln162Ter) |
single nucleotide variant |
not provided [RCV001531092] |
Chr11:44108196 [GRCh38] Chr11:44129746 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.536+1G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002569114]|not provided [RCV001584830] |
Chr11:44108249 [GRCh38] Chr11:44129799 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.744-82A>T |
single nucleotide variant |
not provided [RCV001708181] |
Chr11:44124707 [GRCh38] Chr11:44146257 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.238del (p.Arg80fs) |
deletion |
Exostoses, multiple, type 2 [RCV000761234] |
Chr11:44107950 [GRCh38] Chr11:44129500 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.829G>T (p.Gly277Ter) |
single nucleotide variant |
not provided [RCV003312199] |
Chr11:44124874 [GRCh38] Chr11:44146424 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.10:g.(?_44107663)_(44109303_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001031831] |
Chr11:44129213..44130853 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.10:g.(?_44171591)_(44206979_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001031049] |
Chr11:44193141..44228529 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000883166] |
Chr11:44197930 [GRCh38] Chr11:44219480 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2013G>A (p.Val671=) |
single nucleotide variant |
EXT2-related condition [RCV003960843]|Exostoses, multiple, type 2 [RCV000972010] |
Chr11:44236370 [GRCh38] Chr11:44257920 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001056120] |
Chr11:44107995 [GRCh38] Chr11:44129545 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.211del (p.Leu71fs) |
deletion |
Exostoses, multiple, type 2 [RCV001058089] |
Chr11:44107923 [GRCh38] Chr11:44129473 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001069093] |
Chr11:44171642 [GRCh38] Chr11:44193192 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001055940] |
Chr11:44124951 [GRCh38] Chr11:44146501 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1079+1G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001059095] |
Chr11:44126956 [GRCh38] Chr11:44148506 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001042921] |
Chr11:44232416 [GRCh38] Chr11:44253966 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001039837]|Exostoses, multiple, type 2 [RCV002221603]|not provided [RCV001091959] |
Chr11:44236302 [GRCh38] Chr11:44257852 [GRCh37] Chr11:11p11.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001054162] |
Chr11:44107951 [GRCh38] Chr11:44129501 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000907115] |
Chr11:44130091 [GRCh38] Chr11:44151641 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.358G>A (p.Val120Ile) |
single nucleotide variant |
EXT2-related condition [RCV003970659]|Exostoses, multiple, type 2 [RCV002066254] |
Chr11:44108070 [GRCh38] Chr11:44129620 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.1080-6C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497892] |
Chr11:44130039 [GRCh38] Chr11:44151589 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001944906] |
Chr11:44197877 [GRCh38] Chr11:44219427 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.590del (p.Pro197fs) |
deletion |
Exostoses, multiple, type 2 [RCV000814574] |
Chr11:44109243 [GRCh38] Chr11:44130793 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) |
duplication |
Exostoses, multiple, type 2 [RCV000819350] |
Chr11:44171623..44171624 [GRCh38] Chr11:44193173..44193174 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002535841]|Seizures-scoliosis-macrocephaly syndrome [RCV000791304] |
Chr11:44234131 [GRCh38] Chr11:44255681 [GRCh37] Chr11:11p11.2 |
pathogenic|likely pathogenic |
NM_207122.2(EXT2):c.1627dup (p.Met543fs) |
duplication |
Exostoses, multiple, type 2 [RCV000818168] |
Chr11:44206923..44206924 [GRCh38] Chr11:44228473..44228474 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003461300]|not provided [RCV000994602] |
Chr11:44234229 [GRCh38] Chr11:44255779 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.956_957del (p.Val319fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV000793215] |
Chr11:44126828..44126829 [GRCh38] Chr11:44148378..44148379 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.571A>G (p.Met191Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000791015]|Seizures-scoliosis-macrocephaly syndrome [RCV000791016] |
Chr11:44109228 [GRCh38] Chr11:44130778 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1032del (p.Ile344fs) |
deletion |
Exostoses, multiple, type 2 [RCV000824415] |
Chr11:44126907 [GRCh38] Chr11:44148457 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.743+1_743+2dup |
duplication |
Exostoses, multiple, type 2 [RCV001070503]|not provided [RCV000994601] |
Chr11:44114301..44114302 [GRCh38] Chr11:44135851..44135852 [GRCh37] Chr11:11p11.2 |
pathogenic|uncertain significance |
GRCh37/hg19 11p11.2(chr11:43664817-44889240)x3 |
copy number gain |
not provided [RCV001006406] |
Chr11:43664817..44889240 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000812182] |
Chr11:44171624 [GRCh38] Chr11:44193174 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000814766]|Inborn genetic diseases [RCV002534852] |
Chr11:44114214 [GRCh38] Chr11:44135764 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.668G>C (p.Arg223Pro) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000804879] |
Chr11:44114226 [GRCh38] Chr11:44135776 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.1(EXT2):c.861_1173+5287del |
deletion |
Exostoses, multiple, type 2 [RCV000819585] |
Chr11:44124906..44135425 [GRCh38] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497890] |
Chr11:44171617 [GRCh38] Chr11:44193167 [GRCh37] Chr11:11p11.2 |
likely benign |
NC_000011.10:g.(?_44107663)_(44108268_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001031400] |
Chr11:44129213..44129818 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.442_455del (p.Asn148fs) |
deletion |
not provided [RCV001009047] |
Chr11:44108154..44108167 [GRCh38] Chr11:44129704..44129717 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001213773] |
Chr11:44124964 [GRCh38] Chr11:44146514 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.482del (p.Asn161fs) |
deletion |
Exostoses, multiple, type 2 [RCV001223589] |
Chr11:44108193 [GRCh38] Chr11:44129743 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.520A>T (p.Met174Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001213904] |
Chr11:44108232 [GRCh38] Chr11:44129782 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_207122.2(EXT2):c.203_258del (p.Val68fs) |
deletion |
Exostoses, multiple, type 2 [RCV001220127] |
Chr11:44107915..44107970 [GRCh38] Chr11:44129465..44129520 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.536+1G>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001237110] |
Chr11:44108249 [GRCh38] Chr11:44129799 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.952_964del (p.Cys318fs) |
deletion |
Exostoses, multiple, type 2 [RCV001237549] |
Chr11:44126825..44126837 [GRCh38] Chr11:44148375..44148387 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.261G>A (p.Met87Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001227008] |
Chr11:44107973 [GRCh38] Chr11:44129523 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001209788] |
Chr11:44108033 [GRCh38] Chr11:44129583 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001242681] |
Chr11:44109256 [GRCh38] Chr11:44130806 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001204065] |
Chr11:44126882 [GRCh38] Chr11:44148432 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) |
indel |
Exostoses, multiple, type 2 [RCV001215063] |
Chr11:44107841..44107842 [GRCh38] Chr11:44129391..44129392 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001222254] |
Chr11:44130109 [GRCh38] Chr11:44151659 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107201] |
Chr11:44107863 [GRCh38] Chr11:44129413 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.198G>C (p.Val66=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107202] |
Chr11:44107910 [GRCh38] Chr11:44129460 [GRCh37] Chr11:11p11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.*440A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107375] |
Chr11:44244727 [GRCh38] Chr11:44266277 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*672G>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107376] |
Chr11:44244959 [GRCh38] Chr11:44266509 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1744T>C (p.Tyr582His) |
single nucleotide variant |
not provided [RCV003231830] |
Chr11:44232434 [GRCh38] Chr11:44253984 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1342C>T (p.Leu448=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003104657] |
Chr11:44197865 [GRCh38] Chr11:44219415 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.-31+657G>A |
single nucleotide variant |
not provided [RCV001590773] |
Chr11:44096509 [GRCh38] Chr11:44118059 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1496-109G>A |
single nucleotide variant |
not provided [RCV001671123] |
Chr11:44206684 [GRCh38] Chr11:44228234 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1936-179C>T |
single nucleotide variant |
not provided [RCV001561350] |
Chr11:44236114 [GRCh38] Chr11:44257664 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.744-82A>G |
single nucleotide variant |
not provided [RCV001717775] |
Chr11:44124707 [GRCh38] Chr11:44146257 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.627-187T>A |
single nucleotide variant |
not provided [RCV001717776] |
Chr11:44113998 [GRCh38] Chr11:44135548 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1305+254G>C |
single nucleotide variant |
not provided [RCV001581464] |
Chr11:44171996 [GRCh38] Chr11:44193546 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.626+262C>G |
single nucleotide variant |
not provided [RCV001563401] |
Chr11:44109545 [GRCh38] Chr11:44131095 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.-30-147A>T |
single nucleotide variant |
not provided [RCV001716483] |
Chr11:44107536 [GRCh38] Chr11:44129086 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) |
single nucleotide variant |
EXT2-related condition [RCV003970725]|Exostoses, multiple, type 2 [RCV000951557] |
Chr11:44126881 [GRCh38] Chr11:44148431 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001416139]|Exostoses, multiple, type 2 [RCV002489305] |
Chr11:44206824 [GRCh38] Chr11:44228374 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1102G>A (p.Glu368Lys) |
single nucleotide variant |
not provided [RCV000886010] |
Chr11:44130067 [GRCh38] Chr11:44151617 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1587C>T (p.Ile529=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002065756] |
Chr11:44206884 [GRCh38] Chr11:44228434 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) |
single nucleotide variant |
EXT2-related condition [RCV003905992]|Exostoses, multiple, type 2 [RCV000970411]|Multiple congenital exostosis [RCV001789785]|Seizures-scoliosis-macrocephaly syndrome [RCV001335666] |
Chr11:44108094 [GRCh38] Chr11:44129644 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_207122.2(EXT2):c.1341G>A (p.Pro447=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002066294] |
Chr11:44197864 [GRCh38] Chr11:44219414 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001049080] |
Chr11:44124877 [GRCh38] Chr11:44146427 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.913del (p.Val305fs) |
deletion |
Exostoses, multiple, type 2 [RCV001221863] |
Chr11:44124957 [GRCh38] Chr11:44146507 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1080-115G>T |
single nucleotide variant |
not provided [RCV001643765] |
Chr11:44129930 [GRCh38] Chr11:44151480 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001046576] |
Chr11:44171714 [GRCh38] Chr11:44193264 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001207463] |
Chr11:44130130 [GRCh38] Chr11:44151680 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.744-1G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001207550] |
Chr11:44124788 [GRCh38] Chr11:44146338 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1173G>A (p.Gln391=) |
single nucleotide variant |
Seizures-scoliosis-macrocephaly syndrome [RCV001007887] |
Chr11:44130138 [GRCh38] Chr11:44151688 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001102610] |
Chr11:44124940 [GRCh38] Chr11:44146490 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*838T>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001108029] |
Chr11:44245125 [GRCh38] Chr11:44266675 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) |
single nucleotide variant |
EXT2-related condition [RCV003953601]|Exostoses, multiple, type 2 [RCV001245592]|Seizures-scoliosis-macrocephaly syndrome [RCV001587278] |
Chr11:44171614 [GRCh38] Chr11:44193164 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001209040] |
Chr11:44130115 [GRCh38] Chr11:44151665 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001213903] |
Chr11:44108221 [GRCh38] Chr11:44129771 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001051787] |
Chr11:44114257 [GRCh38] Chr11:44135807 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.-45G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001104445] |
Chr11:44095838 [GRCh38] Chr11:44117388 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.10:g.(?_44124769)_(44126975_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001033473] |
Chr11:44146319..44148525 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs) |
deletion |
Exostoses, multiple, type 2 [RCV001221368] |
Chr11:44130089..44130090 [GRCh38] Chr11:44151639..44151640 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001197720] |
Chr11:44108199 [GRCh38] Chr11:44129749 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001225535] |
Chr11:44108185 [GRCh38] Chr11:44129735 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.423C>T (p.Asp141=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001425199] |
Chr11:44108135 [GRCh38] Chr11:44129685 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV000890274] |
Chr11:44244182 [GRCh38] Chr11:44265732 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.143A>T (p.His48Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497889] |
Chr11:44107855 [GRCh38] Chr11:44129405 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.536+132G>C |
single nucleotide variant |
not provided [RCV001637475] |
Chr11:44108380 [GRCh38] Chr11:44129930 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1495+137G>A |
single nucleotide variant |
not provided [RCV001553138] |
Chr11:44198155 [GRCh38] Chr11:44219705 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002254846] |
Chr11:44108223 [GRCh38] Chr11:44129773 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.-31+453A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002254869] |
Chr11:44096305 [GRCh38] Chr11:44117855 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.939+30G>A |
single nucleotide variant |
not provided [RCV001675522] |
Chr11:44125014 [GRCh38] Chr11:44146564 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1936-66G>C |
single nucleotide variant |
not provided [RCV001674722] |
Chr11:44236227 [GRCh38] Chr11:44257777 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.-31+42A>G |
single nucleotide variant |
not provided [RCV001639417] |
Chr11:44095894 [GRCh38] Chr11:44117444 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1306-93C>T |
single nucleotide variant |
not provided [RCV001709769] |
Chr11:44197736 [GRCh38] Chr11:44219286 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1496-195C>T |
single nucleotide variant |
not provided [RCV001710547] |
Chr11:44206598 [GRCh38] Chr11:44228148 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.-31+22G>A |
single nucleotide variant |
not provided [RCV001654716] |
Chr11:44095874 [GRCh38] Chr11:44117424 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001104528] |
Chr11:44124982 [GRCh38] Chr11:44146532 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107845] |
Chr11:44109202 [GRCh38] Chr11:44130752 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107943] |
Chr11:44197981 [GRCh38] Chr11:44219531 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107944] |
Chr11:44198018 [GRCh38] Chr11:44219568 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107945] |
Chr11:44206796 [GRCh38] Chr11:44228346 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1575T>A (p.Pro525=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107947] |
Chr11:44206872 [GRCh38] Chr11:44228422 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001102608] |
Chr11:44124794 [GRCh38] Chr11:44146344 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*862T>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001108030] |
Chr11:44245149 [GRCh38] Chr11:44266699 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*882G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001108031] |
Chr11:44245169 [GRCh38] Chr11:44266719 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.782_783del (p.Leu261fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV001175160] |
Chr11:44124825..44124826 [GRCh38] Chr11:44146375..44146376 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.626+3A>C |
single nucleotide variant |
Multiple congenital exostosis [RCV001543120]|not provided [RCV001564582] |
Chr11:44109286 [GRCh38] Chr11:44130836 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1305+126T>C |
single nucleotide variant |
not provided [RCV001714127] |
Chr11:44171868 [GRCh38] Chr11:44193418 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1080-138T>C |
single nucleotide variant |
not provided [RCV001708797] |
Chr11:44129907 [GRCh38] Chr11:44151457 [GRCh37] Chr11:11p11.2 |
benign |
NC_000011.10:g.(?_44096233)_(44244388_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001033587] |
Chr11:44117783..44265938 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1936-134GT[10] |
microsatellite |
not provided [RCV001564742] |
Chr11:44236158..44236159 [GRCh38] Chr11:44257708..44257709 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497927]|not provided [RCV001597500] |
Chr11:44109197 [GRCh38] Chr11:44130747 [GRCh37] Chr11:11p11.2 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:43757860-44118731)x3 |
copy number gain |
not provided [RCV001006407] |
Chr11:43757860..44118731 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.728del (p.Pro243fs) |
deletion |
Exostoses, multiple, type 2 [RCV001644551] |
Chr11:44114285 [GRCh38] Chr11:44135835 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001034616] |
Chr11:44108138 [GRCh38] Chr11:44129688 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.940-2A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001218603] |
Chr11:44126814 [GRCh38] Chr11:44148364 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.257_263del (p.Arg86fs) |
deletion |
Exostoses, multiple, type 2 [RCV001219401] |
Chr11:44107965..44107971 [GRCh38] Chr11:44129515..44129521 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001041516] |
Chr11:44124801 [GRCh38] Chr11:44146351 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001208455] |
Chr11:44171694 [GRCh38] Chr11:44193244 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.10:g.(?_44096233)_(44130158_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001032597] |
Chr11:44117783..44151708 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.626+2_626+5del |
deletion |
Exostoses, multiple, type 2 [RCV001247830] |
Chr11:44109282..44109285 [GRCh38] Chr11:44130832..44130835 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) |
single nucleotide variant |
EXT2-related condition [RCV003396747]|Exostoses, multiple, type 2 [RCV001102609] |
Chr11:44124934 [GRCh38] Chr11:44146484 [GRCh37] Chr11:11p11.2 |
benign|likely benign|uncertain significance |
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001053665]|Ovarian cancer [RCV003153911] |
Chr11:44171637 [GRCh38] Chr11:44193187 [GRCh37] Chr11:11p11.2 |
benign|uncertain significance |
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001205454] |
Chr11:44232430 [GRCh38] Chr11:44253980 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV001202921] |
Chr11:44130131..44130132 [GRCh38] Chr11:44151681..44151682 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001237069] |
Chr11:44124965 [GRCh38] Chr11:44146515 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.602_603del (p.Thr201fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV001057844] |
Chr11:44109256..44109257 [GRCh38] Chr11:44130806..44130807 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001039923] |
Chr11:44108106 [GRCh38] Chr11:44129656 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001204896] |
Chr11:44126892 [GRCh38] Chr11:44148442 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.1(EXT2):c.-242G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001104140] |
Chr11:44095641 [GRCh38] Chr11:44117191 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001234386]|not provided [RCV002462858] |
Chr11:44171618 [GRCh38] Chr11:44193168 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.65A>G (p.His22Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001245901] |
Chr11:44107777 [GRCh38] Chr11:44129327 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1024del (p.Val342fs) |
deletion |
Exostoses, multiple, type 2 [RCV001216582] |
Chr11:44126899 [GRCh38] Chr11:44148449 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.626+2T>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001232930] |
Chr11:44109285 [GRCh38] Chr11:44130835 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.459_462del (p.Val154fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV001059704] |
Chr11:44108167..44108170 [GRCh38] Chr11:44129717..44129720 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV001215652]|not provided [RCV001008116] |
Chr11:44171696..44171697 [GRCh38] Chr11:44193246..44193247 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001102715] |
Chr11:44234243 [GRCh38] Chr11:44255793 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2019-14T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001102716] |
Chr11:44244135 [GRCh38] Chr11:44265685 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001036031]|not provided [RCV001784571] |
Chr11:44124862 [GRCh38] Chr11:44146412 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.481_482dup (p.Asn161fs) |
duplication |
not provided [RCV001008463] |
Chr11:44108192..44108193 [GRCh38] Chr11:44129742..44129743 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.201G>A (p.Pro67=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107203] |
Chr11:44107913 [GRCh38] Chr11:44129463 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107290] |
Chr11:44171686 [GRCh38] Chr11:44193236 [GRCh37] Chr11:11p11.2 |
benign|conflicting interpretations of pathogenicity |
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107291] |
Chr11:44171687 [GRCh38] Chr11:44193237 [GRCh37] Chr11:11p11.2 |
benign|conflicting interpretations of pathogenicity |
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107844] |
Chr11:44108095 [GRCh38] Chr11:44129645 [GRCh37] Chr11:11p11.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001107846]|not provided [RCV003442205] |
Chr11:44109262 [GRCh38] Chr11:44130812 [GRCh37] Chr11:11p11.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.960del (p.Leu321fs) |
deletion |
Exostoses, multiple, type 2 [RCV001210746] |
Chr11:44126835 [GRCh38] Chr11:44148385 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001062573]|Inborn genetic diseases [RCV003160509] |
Chr11:44171696 [GRCh38] Chr11:44193246 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001104446] |
Chr11:44107762 [GRCh38] Chr11:44129312 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.*339C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001104630] |
Chr11:44244626 [GRCh38] Chr11:44266176 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del) |
microsatellite |
Exostoses, multiple, type 2 [RCV001039564] |
Chr11:44109217..44109219 [GRCh38] Chr11:44130767..44130769 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001203279] |
Chr11:44197895 [GRCh38] Chr11:44219445 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.314del (p.Lys105fs) |
deletion |
Exostoses, multiple, type 2 [RCV001250997] |
Chr11:44108025 [GRCh38] Chr11:44129575 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1179del (p.Trp394fs) |
deletion |
Exostoses, multiple, type 2 [RCV001262418] |
Chr11:44171615 [GRCh38] Chr11:44193165 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.940-203A>G |
single nucleotide variant |
not provided [RCV001580994] |
Chr11:44126613 [GRCh38] Chr11:44148163 [GRCh37] Chr11:11p11.2 |
likely benign |
GRCh37/hg19 11p11.2(chr11:43769957-44952669) |
copy number loss |
Potocki-Shaffer syndrome [RCV002280641] |
Chr11:43769957..44952669 [GRCh37] Chr11:11p11.2 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4 |
copy number gain |
not provided [RCV001259092] |
Chr11:44266593..46123796 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3 |
copy number gain |
not provided [RCV001259099] |
Chr11:43223479..44266544 [GRCh37] Chr11:11p12-11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002541631]|Inborn genetic diseases [RCV001267336] |
Chr11:44130136 [GRCh38] Chr11:44151686 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001263554] |
Chr11:44124908 [GRCh38] Chr11:44146458 [GRCh37] Chr11:11p11.2 |
pathogenic|likely pathogenic |
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001263555] |
Chr11:44126928 [GRCh38] Chr11:44148478 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.2084G>A (p.Arg695Gln) |
single nucleotide variant |
not provided [RCV001812504] |
Chr11:44244214 [GRCh38] Chr11:44265764 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1079+1G>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001281102] |
Chr11:44126956 [GRCh38] Chr11:44148506 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001335665] |
Chr11:44171663 [GRCh38] Chr11:44193213 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001308839] |
Chr11:44244273 [GRCh38] Chr11:44265823 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001351916] |
Chr11:44124793 [GRCh38] Chr11:44146343 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.890G>A (p.Arg297His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001306155] |
Chr11:44124935 [GRCh38] Chr11:44146485 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001343858] |
Chr11:44114298 [GRCh38] Chr11:44135848 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.343G>A (p.Val115Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001372299] |
Chr11:44108055 [GRCh38] Chr11:44129605 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.9:g.(?_44146456)_44156975del |
deletion |
Exostoses, multiple, type 2 [RCV001383166] |
|
pathogenic |
NM_207122.2(EXT2):c.1764T>C (p.Asn588=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001433489] |
Chr11:44232454 [GRCh38] Chr11:44254004 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001294174] |
Chr11:44126849 [GRCh38] Chr11:44148399 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001371772] |
Chr11:44107749 [GRCh38] Chr11:44129299 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln) |
single nucleotide variant |
EXT2-related condition [RCV003946025]|Exostoses, multiple, type 2 [RCV001363071]|Inborn genetic diseases [RCV002547808] |
Chr11:44197935 [GRCh38] Chr11:44219485 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001313295] |
Chr11:44114286 [GRCh38] Chr11:44135836 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001363559] |
Chr11:44171629 [GRCh38] Chr11:44193179 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.886G>C (p.Val296Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001317258] |
Chr11:44124931 [GRCh38] Chr11:44146481 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001340253] |
Chr11:44171724 [GRCh38] Chr11:44193274 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001343184] |
Chr11:44108020 [GRCh38] Chr11:44129570 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001318418] |
Chr11:44107938 [GRCh38] Chr11:44129488 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001318274] |
Chr11:44130082 [GRCh38] Chr11:44151632 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.117C>T (p.Ala39=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001413957] |
Chr11:44107829 [GRCh38] Chr11:44129379 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001305779] |
Chr11:44107950 [GRCh38] Chr11:44129500 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001365374] |
Chr11:44130116 [GRCh38] Chr11:44151666 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001304254] |
Chr11:44206898 [GRCh38] Chr11:44228448 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001315798] |
Chr11:44244180 [GRCh38] Chr11:44265730 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.444C>T (p.Asn148=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001485689] |
Chr11:44108156 [GRCh38] Chr11:44129706 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.936A>G (p.Leu312=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001473394] |
Chr11:44124981 [GRCh38] Chr11:44146531 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1704T>A (p.Gly568=) |
single nucleotide variant |
EXT2-related condition [RCV003908685]|Exostoses, multiple, type 2 [RCV001459509] |
Chr11:44232394 [GRCh38] Chr11:44253944 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.267G>A (p.Thr89=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001418364] |
Chr11:44107979 [GRCh38] Chr11:44129529 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002503271] |
Chr11:44206803 [GRCh38] Chr11:44228353 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1807-51T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001513855]|not provided [RCV001615188] |
Chr11:44234064 [GRCh38] Chr11:44255614 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.687C>T (p.Ser229=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001432602] |
Chr11:44114245 [GRCh38] Chr11:44135795 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.-31+474G>A |
single nucleotide variant |
not provided [RCV001539686]|not specified [RCV001580121] |
Chr11:44096326 [GRCh38] Chr11:44117876 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.182G>A (p.Arg61His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001417023] |
Chr11:44107894 [GRCh38] Chr11:44129444 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1743G>A (p.Lys581=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001410078] |
Chr11:44232433 [GRCh38] Chr11:44253983 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2136C>T (p.Phe712=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001418834] |
Chr11:44244266 [GRCh38] Chr11:44265816 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.306C>T (p.Asn102=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001410712] |
Chr11:44108018 [GRCh38] Chr11:44129568 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1306-7C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001408272]|not provided [RCV003238368] |
Chr11:44197822 [GRCh38] Chr11:44219372 [GRCh37] Chr11:11p11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001386700]|not provided [RCV001559991] |
Chr11:44171671 [GRCh38] Chr11:44193221 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001386701] |
Chr11:44171724 [GRCh38] Chr11:44193274 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.64_68del (p.His22fs) |
deletion |
Exostoses, multiple, type 2 [RCV001387737] |
Chr11:44107775..44107779 [GRCh38] Chr11:44129325..44129329 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1003T>C (p.Leu335=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001428365] |
Chr11:44126879 [GRCh38] Chr11:44148429 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter) |
duplication |
Exostoses, multiple, type 2 [RCV001390832] |
Chr11:44206873..44206874 [GRCh38] Chr11:44228423..44228424 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.783_784del (p.His262fs) |
deletion |
Exostoses, multiple, type 2 [RCV001390840] |
Chr11:44124828..44124829 [GRCh38] Chr11:44146378..44146379 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.537-79A>C |
single nucleotide variant |
not provided [RCV001536231] |
Chr11:44109115 [GRCh38] Chr11:44130665 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1174-270C>A |
single nucleotide variant |
not provided [RCV001687021] |
Chr11:44171341 [GRCh38] Chr11:44192891 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.744-83_744-82insG |
insertion |
not provided [RCV001675110] |
Chr11:44124706..44124707 [GRCh38] Chr11:44146256..44146257 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.-31+496T>G |
single nucleotide variant |
not provided [RCV001710572] |
Chr11:44096348 [GRCh38] Chr11:44117898 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1221C>T (p.Ala407=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001477460] |
Chr11:44171658 [GRCh38] Chr11:44193208 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.743+143C>T |
single nucleotide variant |
not provided [RCV001716275] |
Chr11:44114444 [GRCh38] Chr11:44135994 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.93C>T (p.Ser31=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001494944] |
Chr11:44107805 [GRCh38] Chr11:44129355 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1495+7dup |
duplication |
Exostoses, multiple, type 2 [RCV001439755] |
Chr11:44198023..44198024 [GRCh38] Chr11:44219573..44219574 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.246T>C (p.Asp82=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001442829] |
Chr11:44107958 [GRCh38] Chr11:44129508 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001381924] |
Chr11:44107994 [GRCh38] Chr11:44129544 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1195del (p.Tyr399fs) |
deletion |
Exostoses, multiple, type 2 [RCV001384121] |
Chr11:44171632 [GRCh38] Chr11:44193182 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1231C>T (p.Leu411=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001454879] |
Chr11:44171668 [GRCh38] Chr11:44193218 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1681G>C (p.Asp561His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001512134] |
Chr11:44232371 [GRCh38] Chr11:44253921 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001418919] |
Chr11:44206816 [GRCh38] Chr11:44228366 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1806+10C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001512551] |
Chr11:44232506 [GRCh38] Chr11:44254056 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1167G>A (p.Gln389=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001484191] |
Chr11:44130132 [GRCh38] Chr11:44151682 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.922T>C (p.Tyr308His) |
single nucleotide variant |
Multiple congenital exostosis [RCV001775467] |
Chr11:44124967 [GRCh38] Chr11:44146517 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603106]|not provided [RCV003238586] |
Chr11:44108019 [GRCh38] Chr11:44129569 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1179dup (p.Trp394fs) |
duplication |
not provided [RCV003238069] |
Chr11:44171614..44171615 [GRCh38] Chr11:44193164..44193165 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1996G>T (p.Asp666Tyr) |
single nucleotide variant |
not provided [RCV003237673] |
Chr11:44236353 [GRCh38] Chr11:44257903 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.-31+106C>T |
single nucleotide variant |
not provided [RCV001779909] |
Chr11:44095958 [GRCh38] Chr11:44117508 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1305+2T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001761997]|Seizures-scoliosis-macrocephaly syndrome [RCV001810317]|not provided [RCV003238052] |
Chr11:44171744 [GRCh38] Chr11:44193294 [GRCh37] Chr11:11p11.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_207122.2(EXT2):c.785A>G (p.His262Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001788972] |
Chr11:44124830 [GRCh38] Chr11:44146380 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.404T>C (p.Met135Thr) |
single nucleotide variant |
not provided [RCV001795742] |
Chr11:44108116 [GRCh38] Chr11:44129666 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.-30-80A>C |
single nucleotide variant |
not provided [RCV001787624] |
Chr11:44107603 [GRCh38] Chr11:44129153 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1079+5G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002034506]|Multiple congenital exostosis [RCV001775468] |
Chr11:44126960 [GRCh38] Chr11:44148510 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1457T>A (p.Leu486His) |
single nucleotide variant |
not provided [RCV001816100] |
Chr11:44197980 [GRCh38] Chr11:44219530 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.939+2T>C |
single nucleotide variant |
Seizures-scoliosis-macrocephaly syndrome [RCV001809315] |
Chr11:44124986 [GRCh38] Chr11:44146536 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001950384] |
Chr11:44206829 [GRCh38] Chr11:44228379 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.516del (p.Ala173fs) |
deletion |
Exostoses, multiple, type 2 [RCV002044641] |
Chr11:44108227 [GRCh38] Chr11:44129777 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro) |
indel |
Exostoses, multiple, type 2 [RCV001896043] |
Chr11:44232492..44232493 [GRCh38] Chr11:44254042..44254043 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001874646] |
Chr11:44206813 [GRCh38] Chr11:44228363 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.69A>T (p.Arg23=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001928898] |
Chr11:44107781 [GRCh38] Chr11:44129331 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met) |
inversion |
Exostoses, multiple, type 2 [RCV001948106] |
Chr11:44126875..44126876 [GRCh38] Chr11:44148425..44148426 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.9:g.(?_44219359)_(44228529_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001965185] |
Chr11:44219359..44228529 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001929823] |
Chr11:44234184 [GRCh38] Chr11:44255734 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001965422] |
Chr11:44126919 [GRCh38] Chr11:44148469 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.156C>G (p.Ser52=) |
single nucleotide variant |
not specified [RCV001844788] |
Chr11:44107868 [GRCh38] Chr11:44129418 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001948402]|Inborn genetic diseases [RCV003167335] |
Chr11:44114198 [GRCh38] Chr11:44135748 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001895647] |
Chr11:44126908 [GRCh38] Chr11:44148458 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 |
copy number loss |
not provided [RCV001836486] |
Chr11:40117145..46920718 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002003940] |
Chr11:44126898 [GRCh38] Chr11:44148448 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001870774] |
Chr11:44108127 [GRCh38] Chr11:44129677 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1080-2A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001889760] |
Chr11:44130043 [GRCh38] Chr11:44151593 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001984005] |
Chr11:44108089 [GRCh38] Chr11:44129639 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1242C>T (p.Ile414=) |
single nucleotide variant |
Hepatoblastoma [RCV001843912] |
Chr11:44171679 [GRCh38] Chr11:44193229 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.705_706del (p.Leu236fs) |
deletion |
Exostoses, multiple, type 2 [RCV001909292] |
Chr11:44114262..44114263 [GRCh38] Chr11:44135812..44135813 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.931G>A (p.Val311Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002042879] |
Chr11:44124976 [GRCh38] Chr11:44146526 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001928486] |
Chr11:44234132 [GRCh38] Chr11:44255682 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001928523] |
Chr11:44107978 [GRCh38] Chr11:44129528 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.497G>A (p.Arg166His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002044320]|Ovarian cancer [RCV003154044] |
Chr11:44108209 [GRCh38] Chr11:44129759 [GRCh37] Chr11:11p11.2 |
benign|uncertain significance |
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002022795] |
Chr11:44126871 [GRCh38] Chr11:44148421 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.680A>G (p.Asp227Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002039877] |
Chr11:44114238 [GRCh38] Chr11:44135788 [GRCh37] Chr11:11p11.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_207122.2(EXT2):c.680A>T (p.Asp227Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001965899] |
Chr11:44114238 [GRCh38] Chr11:44135788 [GRCh37] Chr11:11p11.2 |
likely pathogenic|uncertain significance |
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002020675] |
Chr11:44107773 [GRCh38] Chr11:44129323 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1669C>A (p.Arg557=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001947084] |
Chr11:44232359 [GRCh38] Chr11:44253909 [GRCh37] Chr11:11p11.2 |
likely benign |
NC_000011.9:g.(?_44129235)_(44129808_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001963281] |
Chr11:44129235..44129808 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001943886]|Exostoses, multiple, type 2 [RCV002491924] |
Chr11:44232359 [GRCh38] Chr11:44253909 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.779G>T (p.Gly260Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001941387] |
Chr11:44124824 [GRCh38] Chr11:44146374 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1201del (p.Gln401fs) |
deletion |
Exostoses, multiple, type 2 [RCV001962993] |
Chr11:44171637 [GRCh38] Chr11:44193187 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.89del (p.Phe30fs) |
deletion |
Exostoses, multiple, type 2 [RCV001939416] |
Chr11:44107800 [GRCh38] Chr11:44129350 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1575T>G (p.Pro525=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002020316] |
Chr11:44206872 [GRCh38] Chr11:44228422 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs) |
insertion |
Exostoses, multiple, type 2 [RCV001941265] |
Chr11:44126879..44126880 [GRCh38] Chr11:44148429..44148430 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1802A>G (p.His601Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002038561] |
Chr11:44232492 [GRCh38] Chr11:44254042 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001907257] |
Chr11:44126873 [GRCh38] Chr11:44148423 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) |
single nucleotide variant |
EXT2-related condition [RCV003892991]|Exostoses, multiple, type 2 [RCV001941353]|Exostoses, multiple, type 2 [RCV002497823]|not provided [RCV003395307] |
Chr11:44114225 [GRCh38] Chr11:44135775 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002037220] |
Chr11:44206907 [GRCh38] Chr11:44228457 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002048896] |
Chr11:44234202 [GRCh38] Chr11:44255752 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1080-1G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001881259] |
Chr11:44130044 [GRCh38] Chr11:44151594 [GRCh37] Chr11:11p11.2 |
pathogenic |
NC_000011.9:g.(?_44129235)_(44151698_?)del |
deletion |
Exostoses, multiple, type 2 [RCV001963167] |
Chr11:44129235..44151698 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.952T>C (p.Cys318Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001973589] |
Chr11:44126828 [GRCh38] Chr11:44148378 [GRCh37] Chr11:11p11.2 |
pathogenic|likely pathogenic |
NM_207122.2(EXT2):c.939+1del |
deletion |
Exostoses, multiple, type 2 [RCV001993224] |
Chr11:44124984 [GRCh38] Chr11:44146534 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1013del (p.Gly338fs) |
deletion |
Exostoses, multiple, type 2 [RCV001940302] |
Chr11:44126888 [GRCh38] Chr11:44148438 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002011640]|not provided [RCV002276984] |
Chr11:44108106 [GRCh38] Chr11:44129656 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.471C>A (p.Ile157=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001916404] |
Chr11:44108183 [GRCh38] Chr11:44129733 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.537-4_561del |
deletion |
Exostoses, multiple, type 2 [RCV001882240] |
Chr11:44109188..44109216 [GRCh38] Chr11:44130738..44130766 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001955915] |
Chr11:44171622 [GRCh38] Chr11:44193172 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001992620] |
Chr11:44171707 [GRCh38] Chr11:44193257 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001956059] |
Chr11:44171723 [GRCh38] Chr11:44193273 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.744-6T>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001899732] |
Chr11:44124783 [GRCh38] Chr11:44146333 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001954935] |
Chr11:44197835 [GRCh38] Chr11:44219385 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.398_402del (p.Leu133fs) |
deletion |
Exostoses, multiple, type 2 [RCV001881370] |
Chr11:44108109..44108113 [GRCh38] Chr11:44129659..44129663 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.729del (p.Glu244fs) |
deletion |
Exostoses, multiple, type 2 [RCV001897508] |
Chr11:44114287 [GRCh38] Chr11:44135837 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.750del (p.Gln251fs) |
deletion |
Exostoses, multiple, type 2 [RCV001933695] |
Chr11:44124794 [GRCh38] Chr11:44146344 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) |
single nucleotide variant |
EXT2-related condition [RCV003913427]|Exostoses, multiple, type 2 [RCV001901902] |
Chr11:44108008 [GRCh38] Chr11:44129558 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001931296] |
Chr11:44197898 [GRCh38] Chr11:44219448 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001904734] |
Chr11:44244184 [GRCh38] Chr11:44265734 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002027287] |
Chr11:44244250 [GRCh38] Chr11:44265800 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1080-2del |
deletion |
Exostoses, multiple, type 2 [RCV001953435] |
Chr11:44130043 [GRCh38] Chr11:44151593 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001867715] |
Chr11:44108157 [GRCh38] Chr11:44129707 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001902337] |
Chr11:44197988 [GRCh38] Chr11:44219538 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001980287] |
Chr11:44126948 [GRCh38] Chr11:44148498 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001918520] |
Chr11:44171663 [GRCh38] Chr11:44193213 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002014904] |
Chr11:44108137 [GRCh38] Chr11:44129687 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.94A>G (p.Ile32Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001930505] |
Chr11:44107806 [GRCh38] Chr11:44129356 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001902482] |
Chr11:44126926 [GRCh38] Chr11:44148476 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001866897] |
Chr11:44198010 [GRCh38] Chr11:44219560 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1565G>A (p.Arg522His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001957433] |
Chr11:44206862 [GRCh38] Chr11:44228412 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.244dup (p.Asp82fs) |
duplication |
Exostoses, multiple, type 2 [RCV001972715] |
Chr11:44107950..44107951 [GRCh38] Chr11:44129500..44129501 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001938805] |
Chr11:44114204 [GRCh38] Chr11:44135754 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001906129] |
Chr11:44197932 [GRCh38] Chr11:44219482 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001906498] |
Chr11:44197842 [GRCh38] Chr11:44219392 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001877332] |
Chr11:44206812 [GRCh38] Chr11:44228362 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001922607] |
Chr11:44124818 [GRCh38] Chr11:44146368 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.779del (p.Gly260fs) |
deletion |
Exostoses, multiple, type 2 [RCV001930304] |
Chr11:44124822 [GRCh38] Chr11:44146372 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002011554]|not provided [RCV003395354] |
Chr11:44198007 [GRCh38] Chr11:44219557 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.843A>G (p.Leu281=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001954880] |
Chr11:44124888 [GRCh38] Chr11:44146438 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1080-1G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001951189] |
Chr11:44130044 [GRCh38] Chr11:44151594 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002010037] |
Chr11:44244171 [GRCh38] Chr11:44265721 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.620_626+158del |
deletion |
Exostoses, multiple, type 2 [RCV001935269] |
Chr11:44109277..44109441 [GRCh38] Chr11:44130827..44130991 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV001919161] |
Chr11:44197838 [GRCh38] Chr11:44219388 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002017152] |
Chr11:44108214 [GRCh38] Chr11:44129764 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.536+7C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002087351] |
Chr11:44108255 [GRCh38] Chr11:44129805 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.744-11T>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002168647] |
Chr11:44124778 [GRCh38] Chr11:44146328 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002087450] |
Chr11:44109202 [GRCh38] Chr11:44130752 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.940-18C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002192464] |
Chr11:44126798 [GRCh38] Chr11:44148348 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1518G>T (p.Arg506=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002186551] |
Chr11:44206815 [GRCh38] Chr11:44228365 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.940-13del |
deletion |
Exostoses, multiple, type 2 [RCV002207638] |
Chr11:44126801 [GRCh38] Chr11:44148351 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1974A>G (p.Thr658=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002186931] |
Chr11:44236331 [GRCh38] Chr11:44257881 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.18G>A (p.Lys6=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002088360] |
Chr11:44107730 [GRCh38] Chr11:44129280 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1663-16A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002129615] |
Chr11:44232337 [GRCh38] Chr11:44253887 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.699T>C (p.Tyr233=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002126909] |
Chr11:44114257 [GRCh38] Chr11:44135807 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.951C>T (p.Phe317=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002188213] |
Chr11:44126827 [GRCh38] Chr11:44148377 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.252T>C (p.Ser84=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002208057] |
Chr11:44107964 [GRCh38] Chr11:44129514 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.743+10A>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002105341] |
Chr11:44114311 [GRCh38] Chr11:44135861 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1575T>C (p.Pro525=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002096730] |
Chr11:44206872 [GRCh38] Chr11:44228422 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.753A>G (p.Gln251=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002116522] |
Chr11:44124798 [GRCh38] Chr11:44146348 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.357C>T (p.Gly119=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002195214] |
Chr11:44108069 [GRCh38] Chr11:44129619 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1900C>T (p.Leu634=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002096287] |
Chr11:44234208 [GRCh38] Chr11:44255758 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1495+9C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002076896] |
Chr11:44198027 [GRCh38] Chr11:44219577 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002077776] |
Chr11:44197912 [GRCh38] Chr11:44219462 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.626+19G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002097662] |
Chr11:44109302 [GRCh38] Chr11:44130852 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.150C>T (p.Ile50=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002115879] |
Chr11:44107862 [GRCh38] Chr11:44129412 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.996C>T (p.Ser332=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002115709] |
Chr11:44126872 [GRCh38] Chr11:44148422 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.9G>A (p.Ala3=) |
single nucleotide variant |
EXT2-related condition [RCV003968791]|Exostoses, multiple, type 2 [RCV002206817] |
Chr11:44107721 [GRCh38] Chr11:44129271 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.219C>T (p.Ala73=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002133364] |
Chr11:44107931 [GRCh38] Chr11:44129481 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1554G>A (p.Lys518=) |
single nucleotide variant |
EXT2-related condition [RCV003933609]|Exostoses, multiple, type 2 [RCV002148520] |
Chr11:44206851 [GRCh38] Chr11:44228401 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.1425A>G (p.Glu475=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002110425]|not provided [RCV003395406] |
Chr11:44197948 [GRCh38] Chr11:44219498 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_207122.2(EXT2):c.1080-16T>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002136969] |
Chr11:44130029 [GRCh38] Chr11:44151579 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1306-13T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002139292] |
Chr11:44197816 [GRCh38] Chr11:44219366 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.678C>T (p.Tyr226=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002104092] |
Chr11:44114236 [GRCh38] Chr11:44135786 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1194G>A (p.Ala398=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002181471] |
Chr11:44171631 [GRCh38] Chr11:44193181 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003460049] |
Chr11:44206879 [GRCh38] Chr11:44228429 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1173+18G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002217469] |
Chr11:44130156 [GRCh38] Chr11:44151706 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1338C>T (p.Leu446=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002180372] |
Chr11:44197861 [GRCh38] Chr11:44219411 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.537-19A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002160979] |
Chr11:44109175 [GRCh38] Chr11:44130725 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.536+10A>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002199421] |
Chr11:44108258 [GRCh38] Chr11:44129808 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2018+17C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002099603] |
Chr11:44236392 [GRCh38] Chr11:44257942 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1936-14T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002137513] |
Chr11:44236279 [GRCh38] Chr11:44257829 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1496-17C>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002083560] |
Chr11:44206776 [GRCh38] Chr11:44228326 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002083580] |
Chr11:44206939 [GRCh38] Chr11:44228489 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.939+19C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002084390] |
Chr11:44125003 [GRCh38] Chr11:44146553 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.588C>T (p.Pro196=) |
single nucleotide variant |
EXT2-related condition [RCV003968731]|Exostoses, multiple, type 2 [RCV002164591] |
Chr11:44109245 [GRCh38] Chr11:44130795 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.192T>C (p.Arg64=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002119193] |
Chr11:44107904 [GRCh38] Chr11:44129454 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1440C>T (p.Pro480=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002216409] |
Chr11:44197963 [GRCh38] Chr11:44219513 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.940-9T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002180733] |
Chr11:44126807 [GRCh38] Chr11:44148357 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002180735] |
Chr11:44126920 [GRCh38] Chr11:44148470 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1461C>T (p.Val487=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002219046] |
Chr11:44197984 [GRCh38] Chr11:44219534 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2130G>A (p.Lys710=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002141051] |
Chr11:44244260 [GRCh38] Chr11:44265810 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.211C>T (p.Leu71=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002100864] |
Chr11:44107923 [GRCh38] Chr11:44129473 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.744-20C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002155500] |
Chr11:44124769 [GRCh38] Chr11:44146319 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1305+12C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002220304] |
Chr11:44171754 [GRCh38] Chr11:44193304 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1683C>T (p.Asp561=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002203325] |
Chr11:44232373 [GRCh38] Chr11:44253923 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.669G>A (p.Arg223=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002177201] |
Chr11:44114227 [GRCh38] Chr11:44135777 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1806+9G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002137825] |
Chr11:44232505 [GRCh38] Chr11:44254055 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1803C>T (p.His601=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002102736] |
Chr11:44232493 [GRCh38] Chr11:44254043 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.84C>T (p.Thr28=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002140314] |
Chr11:44107796 [GRCh38] Chr11:44129346 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1662+20T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003110905] |
Chr11:44206979 [GRCh38] Chr11:44228529 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.210G>A (p.Arg70=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003111961] |
Chr11:44107922 [GRCh38] Chr11:44129472 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003111463] |
Chr11:44232488 [GRCh38] Chr11:44254038 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1197C>G (p.Tyr399Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003112214] |
Chr11:44171634 [GRCh38] Chr11:44193184 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.933G>A (p.Val311=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003122072] |
Chr11:44124978 [GRCh38] Chr11:44146528 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.-30-10T>A |
single nucleotide variant |
Multiple congenital exostosis [RCV002254873] |
Chr11:44107673 [GRCh38] Chr11:44129223 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1496-204_1496-195del |
deletion |
not provided [RCV003237122] |
Chr11:44206589..44206598 [GRCh38] Chr11:44228139..44228148 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1496-209del |
deletion |
not provided [RCV003237165] |
Chr11:44206583 [GRCh38] Chr11:44228133 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.909_910insGATGTCAGCATTCCTGTCTATAATCC (p.Gln304fs) |
insertion |
Exostoses, multiple, type 2 [RCV002274278] |
Chr11:44124953..44124954 [GRCh38] Chr11:44146503..44146504 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.940-79A>C |
single nucleotide variant |
not provided [RCV002292063] |
Chr11:44126737 [GRCh38] Chr11:44148287 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.795C>G (p.Tyr265Ter) |
single nucleotide variant |
not provided [RCV002286272] |
Chr11:44124840 [GRCh38] Chr11:44146390 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002292234]|not provided [RCV003235702] |
Chr11:44232374 [GRCh38] Chr11:44253924 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 |
copy number gain |
See cases [RCV002286338] |
Chr11:51581311..54891247 [GRCh37] Chr11:11p11.2-q12.2 |
pathogenic |
Single allele |
duplication |
not specified [RCV002286377] |
Chr11:42871836..44852545 [GRCh38] Chr11:11p12-11.2 |
uncertain significance |
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003774983]|not provided [RCV002293830] |
Chr11:44124916 [GRCh38] Chr11:44146466 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.832G>T (p.Glu278Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002289289] |
Chr11:44124877 [GRCh38] Chr11:44146427 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002466890] |
Chr11:44171638 [GRCh38] Chr11:44193188 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1171C>A (p.Gln391Lys) |
single nucleotide variant |
Ovarian cancer [RCV003154782] |
Chr11:44130136 [GRCh38] Chr11:44151686 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.839T>A (p.Val280Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002305119] |
Chr11:44124884 [GRCh38] Chr11:44146434 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.-31+465A>G |
single nucleotide variant |
Ovarian cancer [RCV003154817] |
Chr11:44096317 [GRCh38] Chr11:44117867 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.1525T>C (p.Leu509=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002995237] |
Chr11:44206822 [GRCh38] Chr11:44228372 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002751603] |
Chr11:44232455 [GRCh38] Chr11:44254005 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.626+6A>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003073897] |
Chr11:44109289 [GRCh38] Chr11:44130839 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.10:g.44109194del |
deletion |
Exostoses, multiple, type 2 [RCV003095706] |
Chr11:44109193 [GRCh38] Chr11:44130743 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1524A>G (p.Pro508=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003074739] |
Chr11:44206821 [GRCh38] Chr11:44228371 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1518G>A (p.Arg506=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002975443] |
Chr11:44206815 [GRCh38] Chr11:44228365 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.626+6_626+8del |
microsatellite |
EXT2-related condition [RCV003903771]|Exostoses, multiple, type 2 [RCV002755991] |
Chr11:44109286..44109288 [GRCh38] Chr11:44130836..44130838 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser) |
indel |
Exostoses, multiple, type 2 [RCV002842824] |
Chr11:44234206..44234207 [GRCh38] Chr11:44255756..44255757 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.536+14A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002755330] |
Chr11:44108262 [GRCh38] Chr11:44129812 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003074778] |
Chr11:44114226 [GRCh38] Chr11:44135776 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002771364] |
Chr11:44126840 [GRCh38] Chr11:44148390 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002993785]|Inborn genetic diseases [RCV003250683]|Ovarian cancer [RCV003154267] |
Chr11:44124902 [GRCh38] Chr11:44146452 [GRCh37] Chr11:11p11.2 |
likely pathogenic|uncertain significance |
NM_207122.2(EXT2):c.1186_1192del (p.Trp396fs) |
deletion |
Exostoses, multiple, type 2 [RCV002863846] |
Chr11:44171623..44171629 [GRCh38] Chr11:44193173..44193179 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1935+3A>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003034040] |
Chr11:44234246 [GRCh38] Chr11:44255796 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002690186] |
Chr11:44232467 [GRCh38] Chr11:44254017 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1350A>G (p.Pro450=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002618392] |
Chr11:44197873 [GRCh38] Chr11:44219423 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1306-14C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003073861] |
Chr11:44197815 [GRCh38] Chr11:44219365 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003095370] |
Chr11:44107740 [GRCh38] Chr11:44129290 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2028C>T (p.Cys676=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002871240] |
Chr11:44244158 [GRCh38] Chr11:44265708 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1245del (p.Asn415fs) |
deletion |
Exostoses, multiple, type 2 [RCV002889594] |
Chr11:44171682 [GRCh38] Chr11:44193232 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002927566] |
Chr11:44126942 [GRCh38] Chr11:44148492 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis) |
duplication |
Exostoses, multiple, type 2 [RCV002663048] |
Chr11:44124943..44124944 [GRCh38] Chr11:44146493..44146494 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002820255] |
Chr11:44109244 [GRCh38] Chr11:44130794 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003053058]|Inborn genetic diseases [RCV003358065] |
Chr11:44107912 [GRCh38] Chr11:44129462 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.919G>C (p.Asp307His) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002781323] |
Chr11:44124964 [GRCh38] Chr11:44146514 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002975955] |
Chr11:44107948 [GRCh38] Chr11:44129498 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1480A>G (p.Lys494Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002783089] |
Chr11:44198003 [GRCh38] Chr11:44219553 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1806+5G>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003037384] |
Chr11:44232501 [GRCh38] Chr11:44254051 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1124G>A (p.Ser375Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002844442] |
Chr11:44130089 [GRCh38] Chr11:44151639 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002923780]|Inborn genetic diseases [RCV003308361] |
Chr11:44232374 [GRCh38] Chr11:44253924 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.705A>G (p.Pro235=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002592458] |
Chr11:44114263 [GRCh38] Chr11:44135813 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1079+17A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002885531] |
Chr11:44126972 [GRCh38] Chr11:44148522 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1724A>G (p.His575Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002570892] |
Chr11:44232414 [GRCh38] Chr11:44253964 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002620839] |
Chr11:44108158 [GRCh38] Chr11:44129708 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002761270] |
Chr11:44124974 [GRCh38] Chr11:44146524 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002780664] |
Chr11:44108086 [GRCh38] Chr11:44129636 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1782C>T (p.Leu594=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002824155] |
Chr11:44232472 [GRCh38] Chr11:44254022 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.536+17C>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002571018] |
Chr11:44108265 [GRCh38] Chr11:44129815 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.939+14A>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002886255] |
Chr11:44124998 [GRCh38] Chr11:44146548 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.495G>A (p.Leu165=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003020870] |
Chr11:44108207 [GRCh38] Chr11:44129757 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.84C>A (p.Thr28=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002620160] |
Chr11:44107796 [GRCh38] Chr11:44129346 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1305+14A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002948960] |
Chr11:44171756 [GRCh38] Chr11:44193306 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.988G>A (p.Val330Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002952404]|Inborn genetic diseases [RCV002952405] |
Chr11:44126864 [GRCh38] Chr11:44148414 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.147T>G (p.Ser49=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002592130] |
Chr11:44107859 [GRCh38] Chr11:44129409 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1093G>A (p.Val365Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002919579] |
Chr11:44130058 [GRCh38] Chr11:44151608 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002850997] |
Chr11:44197886 [GRCh38] Chr11:44219436 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002595303] |
Chr11:44244233 [GRCh38] Chr11:44265783 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003007333] |
Chr11:44126829 [GRCh38] Chr11:44148379 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1708C>T (p.Leu570=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003058989] |
Chr11:44232398 [GRCh38] Chr11:44253948 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002985620] |
Chr11:44244193 [GRCh38] Chr11:44265743 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.422A>T (p.Asp141Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003082991]|not provided [RCV003491244] |
Chr11:44108134 [GRCh38] Chr11:44129684 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1911C>T (p.Asn637=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002623924] |
Chr11:44234219 [GRCh38] Chr11:44255769 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1174-14T>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002918015] |
Chr11:44171597 [GRCh38] Chr11:44193147 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.695T>G (p.Val232Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002957455] |
Chr11:44114253 [GRCh38] Chr11:44135803 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.452G>C (p.Cys151Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002826401] |
Chr11:44108164 [GRCh38] Chr11:44129714 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.516A>G (p.Gln172=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002663458] |
Chr11:44108228 [GRCh38] Chr11:44129778 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.610del (p.Asp204fs) |
deletion |
Exostoses, multiple, type 2 [RCV003058304] |
Chr11:44109266 [GRCh38] Chr11:44130816 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003022460] |
Chr11:44234200 [GRCh38] Chr11:44255750 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.756C>G (p.Tyr252Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003058305] |
Chr11:44124801 [GRCh38] Chr11:44146351 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1174-19A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002666641] |
Chr11:44171592 [GRCh38] Chr11:44193142 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003084740] |
Chr11:44197851 [GRCh38] Chr11:44219401 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.744-8C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002801208] |
Chr11:44124781 [GRCh38] Chr11:44146331 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1344G>A (p.Leu448=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002624976] |
Chr11:44197867 [GRCh38] Chr11:44219417 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002741723] |
Chr11:44108129 [GRCh38] Chr11:44129679 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002666611] |
Chr11:44197989 [GRCh38] Chr11:44219539 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.536+20C>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002894123] |
Chr11:44108268 [GRCh38] Chr11:44129818 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1233G>A (p.Leu411=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002644054] |
Chr11:44171670 [GRCh38] Chr11:44193220 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002953883] |
Chr11:44232461 [GRCh38] Chr11:44254011 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.956T>C (p.Val319Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002711087] |
Chr11:44126832 [GRCh38] Chr11:44148382 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1080-14G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002663778] |
Chr11:44130031 [GRCh38] Chr11:44151581 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.844G>A (p.Val282Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002872806] |
Chr11:44124889 [GRCh38] Chr11:44146439 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002766145] |
Chr11:44234218 [GRCh38] Chr11:44255768 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter) |
single nucleotide variant |
EXT2-related condition [RCV003395586]|Exostoses, multiple, type 2 [RCV003085485] |
Chr11:44244213 [GRCh38] Chr11:44265763 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1731dup (p.Asn578fs) |
duplication |
Exostoses, multiple, type 2 [RCV003056730] |
Chr11:44232420..44232421 [GRCh38] Chr11:44253970..44253971 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.626+14T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003090865] |
Chr11:44109297 [GRCh38] Chr11:44130847 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile) |
indel |
Exostoses, multiple, type 2 [RCV002676541] |
Chr11:44108240..44108241 [GRCh38] Chr11:44129790..44129791 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002922691] |
Chr11:44171681 [GRCh38] Chr11:44193231 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.942G>A (p.Glu314=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002632250] |
Chr11:44126818 [GRCh38] Chr11:44148368 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002922710] |
Chr11:44108186 [GRCh38] Chr11:44129736 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003087358]|Inborn genetic diseases [RCV003087357] |
Chr11:44108155 [GRCh38] Chr11:44129705 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002715193] |
Chr11:44206959 [GRCh38] Chr11:44228509 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.536+19G>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003086035] |
Chr11:44108267 [GRCh38] Chr11:44129817 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002671464] |
Chr11:44114297 [GRCh38] Chr11:44135847 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002628231]|Inborn genetic diseases [RCV002628232] |
Chr11:44108184 [GRCh38] Chr11:44129734 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1698C>A (p.Tyr566Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002898796] |
Chr11:44232388 [GRCh38] Chr11:44253938 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.939+11T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002580107] |
Chr11:44124995 [GRCh38] Chr11:44146545 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002580939] |
Chr11:44130119 [GRCh38] Chr11:44151669 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1701G>A (p.Pro567=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002628909] |
Chr11:44232391 [GRCh38] Chr11:44253941 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.321T>C (p.Tyr107=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002933501] |
Chr11:44108033 [GRCh38] Chr11:44129583 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.659G>A (p.Trp220Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003062361] |
Chr11:44114217 [GRCh38] Chr11:44135767 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1056C>T (p.Phe352=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003063697] |
Chr11:44126932 [GRCh38] Chr11:44148482 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.248_249del (p.Leu83fs) |
microsatellite |
Exostoses, multiple, type 2 [RCV002811636] |
Chr11:44107958..44107959 [GRCh38] Chr11:44129508..44129509 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.456G>C (p.Leu152=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003086871] |
Chr11:44108168 [GRCh38] Chr11:44129718 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1495+12T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003090545] |
Chr11:44198030 [GRCh38] Chr11:44219580 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1662+4A>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002834838] |
Chr11:44206963 [GRCh38] Chr11:44228513 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003062798] |
Chr11:44108032 [GRCh38] Chr11:44129582 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002770585] |
Chr11:44232409 [GRCh38] Chr11:44253959 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1773C>T (p.Ser591=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002634001] |
Chr11:44232463 [GRCh38] Chr11:44254013 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1371C>T (p.Thr457=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003051161] |
Chr11:44197894 [GRCh38] Chr11:44219444 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003069326]|Inborn genetic diseases [RCV003294465] |
Chr11:44197985 [GRCh38] Chr11:44219535 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu) |
duplication |
Exostoses, multiple, type 2 [RCV002721624] |
Chr11:44126876..44126877 [GRCh38] Chr11:44148426..44148427 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1663-1G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002604967] |
Chr11:44232352 [GRCh38] Chr11:44253902 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.572T>C (p.Met191Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003070208] |
Chr11:44109229 [GRCh38] Chr11:44130779 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1489_1495+12del |
deletion |
Exostoses, multiple, type 2 [RCV003069165] |
Chr11:44198011..44198029 [GRCh38] Chr11:44219561..44219579 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.537G>A (p.Arg179=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002588014] |
Chr11:44109194 [GRCh38] Chr11:44130744 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003073382] |
Chr11:44108203 [GRCh38] Chr11:44129753 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002585463] |
Chr11:44124803 [GRCh38] Chr11:44146353 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1308G>A (p.Lys436=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002633568] |
Chr11:44197831 [GRCh38] Chr11:44219381 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1149A>G (p.Arg383=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV002582709] |
Chr11:44130114 [GRCh38] Chr11:44151664 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2005C>T (p.His669Tyr) |
single nucleotide variant |
Ovarian cancer [RCV003154809] |
Chr11:44236362 [GRCh38] Chr11:44257912 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.655A>G (p.Thr219Ala) |
single nucleotide variant |
Ovarian cancer [RCV003154753] |
Chr11:44114213 [GRCh38] Chr11:44135763 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.93del (p.Ile32fs) |
deletion |
not provided [RCV003145020] |
Chr11:44107804 [GRCh38] Chr11:44129354 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603152]|Inborn genetic diseases [RCV003194981] |
Chr11:44124800 [GRCh38] Chr11:44146350 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.168G>A (p.Trp56Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003225826] |
Chr11:44107880 [GRCh38] Chr11:44129430 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.68G>A (p.Arg23Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003258503] |
Chr11:44107780 [GRCh38] Chr11:44129330 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.678C>G (p.Tyr226Ter) |
single nucleotide variant |
not provided [RCV003136835] |
Chr11:44114236 [GRCh38] Chr11:44135786 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1301C>T (p.Ala434Val) |
single nucleotide variant |
not provided [RCV003147139] |
Chr11:44171738 [GRCh38] Chr11:44193288 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1733del (p.Asn578fs) |
deletion |
Exostoses, multiple, type 2 [RCV003460053] |
Chr11:44232422 [GRCh38] Chr11:44253972 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1706G>A (p.Arg569His) |
single nucleotide variant |
not provided [RCV003318840] |
Chr11:44232396 [GRCh38] Chr11:44253946 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1778del (p.Val593fs) |
deletion |
Exostoses, multiple, type 2 [RCV003325290] |
Chr11:44232468 [GRCh38] Chr11:44254018 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1812del (p.Phe604fs) |
deletion |
Exostoses, multiple, type 2 [RCV003336693] |
Chr11:44234117 [GRCh38] Chr11:44255667 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467979] |
Chr11:44197971 [GRCh38] Chr11:44219521 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467983] |
Chr11:44197985 [GRCh38] Chr11:44219535 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467984] |
Chr11:44234143 [GRCh38] Chr11:44255693 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467991] |
Chr11:44206819 [GRCh38] Chr11:44228369 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003468001] |
Chr11:44107902 [GRCh38] Chr11:44129452 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003460046] |
Chr11:44197977 [GRCh38] Chr11:44219527 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003460050] |
Chr11:44109250 [GRCh38] Chr11:44130800 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003460054] |
Chr11:44107932 [GRCh38] Chr11:44129482 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003476403] |
Chr11:44114259 [GRCh38] Chr11:44135809 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467978] |
Chr11:44108004 [GRCh38] Chr11:44129554 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1496-1G>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467980] |
Chr11:44206792 [GRCh38] Chr11:44228342 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467985] |
Chr11:44236357 [GRCh38] Chr11:44257907 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.376A>G (p.Ile126Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467986] |
Chr11:44108088 [GRCh38] Chr11:44129638 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003468004] |
Chr11:44232358 [GRCh38] Chr11:44253908 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer) |
deletion |
Exostoses, multiple, type 2 [RCV003468005] |
Chr11:44206831 [GRCh38] Chr11:44228381 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1662+1G>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003468006] |
Chr11:44206960 [GRCh38] Chr11:44228510 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467988] |
Chr11:44234162 [GRCh38] Chr11:44255712 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.534T>C (p.Ser178=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603661] |
Chr11:44108246 [GRCh38] Chr11:44129796 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603729] |
Chr11:44108122 [GRCh38] Chr11:44129672 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003460052] |
Chr11:44126892 [GRCh38] Chr11:44148442 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467995] |
Chr11:44197934 [GRCh38] Chr11:44219484 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.12G>A (p.Ser4=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603590] |
Chr11:44107724 [GRCh38] Chr11:44129274 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003476404] |
Chr11:44107852 [GRCh38] Chr11:44129402 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467990] |
Chr11:44171660 [GRCh38] Chr11:44193210 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1712A>C (p.His571Pro) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467997] |
Chr11:44232402 [GRCh38] Chr11:44253952 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467987] |
Chr11:44197853 [GRCh38] Chr11:44219403 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.385G>T (p.Glu129Ter) |
single nucleotide variant |
EXT2-related condition [RCV003391481] |
Chr11:44108097 [GRCh38] Chr11:44129647 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467982] |
Chr11:44107894 [GRCh38] Chr11:44129444 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467993] |
Chr11:44124875 [GRCh38] Chr11:44146425 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.148A>G (p.Ile50Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467994] |
Chr11:44107860 [GRCh38] Chr11:44129410 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467996] |
Chr11:44130110 [GRCh38] Chr11:44151660 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1802A>C (p.His601Pro) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467998] |
Chr11:44232492 [GRCh38] Chr11:44254042 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467999] |
Chr11:44107993 [GRCh38] Chr11:44129543 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003468002] |
Chr11:44126894 [GRCh38] Chr11:44148444 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003468003] |
Chr11:44234232 [GRCh38] Chr11:44255782 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003467989] |
Chr11:44126948 [GRCh38] Chr11:44148498 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.523G>C (p.Ala175Pro) |
single nucleotide variant |
EXT2-related condition [RCV003399542] |
Chr11:44108235 [GRCh38] Chr11:44129785 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1931T>C (p.Ile644Thr) |
single nucleotide variant |
EXT2-related condition [RCV003420892] |
Chr11:44234239 [GRCh38] Chr11:44255789 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.767C>A (p.Ser256Ter) |
single nucleotide variant |
EXT2-related condition [RCV003412477] |
Chr11:44124812 [GRCh38] Chr11:44146362 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.1806+3A>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003460048] |
Chr11:44232499 [GRCh38] Chr11:44254049 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003460051] |
Chr11:44171722 [GRCh38] Chr11:44193272 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1056C>G (p.Phe352Leu) |
single nucleotide variant |
EXT2-related condition [RCV003406158] |
Chr11:44126932 [GRCh38] Chr11:44148482 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1008A>G (p.Gln336=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602822] |
Chr11:44126884 [GRCh38] Chr11:44148434 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1752T>G (p.Ser584=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602973] |
Chr11:44232442 [GRCh38] Chr11:44253992 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.518C>T (p.Ala173Val) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603978] |
Chr11:44108230 [GRCh38] Chr11:44129780 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602977] |
Chr11:44232489 [GRCh38] Chr11:44254039 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1860A>G (p.Val620=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602678] |
Chr11:44234168 [GRCh38] Chr11:44255718 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1936-10C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602993] |
Chr11:44236283 [GRCh38] Chr11:44257833 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003826990] |
Chr11:44197893 [GRCh38] Chr11:44219443 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003876542] |
Chr11:44197899 [GRCh38] Chr11:44219449 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.417C>T (p.Asp139=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602851] |
Chr11:44108129 [GRCh38] Chr11:44129679 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.969A>G (p.Gly323=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003829377] |
Chr11:44126845 [GRCh38] Chr11:44148395 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.717G>A (p.Glu239=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602861] |
Chr11:44114275 [GRCh38] Chr11:44135825 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603000] |
Chr11:44197863 [GRCh38] Chr11:44219413 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1959G>A (p.Lys653=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603007] |
Chr11:44236316 [GRCh38] Chr11:44257866 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603009] |
Chr11:44171624 [GRCh38] Chr11:44193174 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602862] |
Chr11:44124859 [GRCh38] Chr11:44146409 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1662+17_1662+18del |
microsatellite |
Exostoses, multiple, type 2 [RCV003602870] |
Chr11:44206973..44206974 [GRCh38] Chr11:44228523..44228524 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1449C>T (p.Ser483=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602884] |
Chr11:44197972 [GRCh38] Chr11:44219522 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.955G>A (p.Val319Met) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602924] |
Chr11:44126831 [GRCh38] Chr11:44148381 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003605071] |
Chr11:44130050 [GRCh38] Chr11:44151600 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1353A>G (p.Pro451=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602898] |
Chr11:44197876 [GRCh38] Chr11:44219426 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602896] |
Chr11:44107732 [GRCh38] Chr11:44129282 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1930del (p.Ile644fs) |
deletion |
Exostoses, multiple, type 2 [RCV003602625] |
Chr11:44234238 [GRCh38] Chr11:44255788 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.887T>A (p.Val296Asp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602805] |
Chr11:44124932 [GRCh38] Chr11:44146482 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.940-14T>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602652] |
Chr11:44126802 [GRCh38] Chr11:44148352 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1935+1G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602957] |
Chr11:44234244 [GRCh38] Chr11:44255794 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603797] |
Chr11:44108181 [GRCh38] Chr11:44129731 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603855] |
Chr11:44126916 [GRCh38] Chr11:44148466 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604733] |
Chr11:44234163 [GRCh38] Chr11:44255713 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603794] |
Chr11:44107734 [GRCh38] Chr11:44129284 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603960] |
Chr11:44197917 [GRCh38] Chr11:44219467 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604861] |
Chr11:44108208 [GRCh38] Chr11:44129758 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604875] |
Chr11:44197961 [GRCh38] Chr11:44219511 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.940-15T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604113] |
Chr11:44126801 [GRCh38] Chr11:44148351 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604169] |
Chr11:44197831 [GRCh38] Chr11:44219381 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.561G>C (p.Leu187=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604377] |
Chr11:44109218 [GRCh38] Chr11:44130768 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604397] |
Chr11:44126918 [GRCh38] Chr11:44148468 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1935+19C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604534] |
Chr11:44234262 [GRCh38] Chr11:44255812 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1083A>G (p.Ala361=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003878211] |
Chr11:44130048 [GRCh38] Chr11:44151598 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.744-16T>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604299] |
Chr11:44124773 [GRCh38] Chr11:44146323 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604774] |
Chr11:44206871 [GRCh38] Chr11:44228421 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.33T>C (p.Gly11=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603615] |
Chr11:44107745 [GRCh38] Chr11:44129295 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.869C>A (p.Ser290Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603833] |
Chr11:44124914 [GRCh38] Chr11:44146464 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604060] |
Chr11:44171612 [GRCh38] Chr11:44193162 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003602576] |
Chr11:44130067 [GRCh38] Chr11:44151617 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603822] |
Chr11:44114198 [GRCh38] Chr11:44135748 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.657G>A (p.Thr219=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603863] |
Chr11:44114215 [GRCh38] Chr11:44135765 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603929] |
Chr11:44197959 [GRCh38] Chr11:44219509 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604590] |
Chr11:44114216 [GRCh38] Chr11:44135766 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del) |
deletion |
Exostoses, multiple, type 2 [RCV003604156] |
Chr11:44171668..44171670 [GRCh38] Chr11:44193218..44193220 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1484del (p.Asn495fs) |
deletion |
Exostoses, multiple, type 2 [RCV003604160] |
Chr11:44198003 [GRCh38] Chr11:44219553 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.383_390del (p.Arg128fs) |
deletion |
Exostoses, multiple, type 2 [RCV003604701] |
Chr11:44108095..44108102 [GRCh38] Chr11:44129645..44129652 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.618C>A (p.Pro206=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003880458] |
Chr11:44109275 [GRCh38] Chr11:44130825 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.82_143del (p.Thr28fs) |
deletion |
Exostoses, multiple, type 2 [RCV003604762] |
Chr11:44107794..44107855 [GRCh38] Chr11:44129344..44129405 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1306-14C>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003604817] |
Chr11:44197815 [GRCh38] Chr11:44219365 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1863T>C (p.Asp621=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603644] |
Chr11:44234171 [GRCh38] Chr11:44255721 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs) |
deletion |
Exostoses, multiple, type 2 [RCV003604929] |
Chr11:44130065..44130069 [GRCh38] Chr11:44151615..44151619 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1173+17T>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603687] |
Chr11:44130155 [GRCh38] Chr11:44151705 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498233] |
Chr11:44171660 [GRCh38] Chr11:44193210 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003834860] |
Chr11:44171685 [GRCh38] Chr11:44193235 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1662+18A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498345] |
Chr11:44206977 [GRCh38] Chr11:44228527 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs) |
duplication |
Exostoses, multiple, type 2 [RCV003498347] |
Chr11:44130136..44130137 [GRCh38] Chr11:44151686..44151687 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.393T>C (p.Asn131=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498623] |
Chr11:44108105 [GRCh38] Chr11:44129655 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.315G>A (p.Lys105=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498018] |
Chr11:44108027 [GRCh38] Chr11:44129577 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1026T>C (p.Val342=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003836854] |
Chr11:44126902 [GRCh38] Chr11:44148452 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.627-18A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497486] |
Chr11:44114167 [GRCh38] Chr11:44135717 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1174-2A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003851591] |
Chr11:44171609 [GRCh38] Chr11:44193159 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003814826] |
Chr11:44236342 [GRCh38] Chr11:44257892 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603561] |
Chr11:44114282 [GRCh38] Chr11:44135832 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1917G>A (p.Thr639=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499075] |
Chr11:44234225 [GRCh38] Chr11:44255775 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003603364] |
Chr11:44232390 [GRCh38] Chr11:44253940 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.859del (p.Thr287fs) |
deletion |
Exostoses, multiple, type 2 [RCV003499968] |
Chr11:44124904 [GRCh38] Chr11:44146454 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498910] |
Chr11:44124901 [GRCh38] Chr11:44146451 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.2019-2del |
deletion |
Exostoses, multiple, type 2 [RCV003498981] |
Chr11:44244147 [GRCh38] Chr11:44265697 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.519G>A (p.Ala173=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499652] |
Chr11:44108231 [GRCh38] Chr11:44129781 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1524A>T (p.Pro508=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499774] |
Chr11:44206821 [GRCh38] Chr11:44228371 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499966] |
Chr11:44108110 [GRCh38] Chr11:44129660 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499967] |
Chr11:44114236 [GRCh38] Chr11:44135786 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.2046A>G (p.Ser682=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003810989] |
Chr11:44244176 [GRCh38] Chr11:44265726 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498469] |
Chr11:44244256 [GRCh38] Chr11:44265806 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.913G>C (p.Val305Leu) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497532] |
Chr11:44124958 [GRCh38] Chr11:44146508 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497562] |
Chr11:44232466 [GRCh38] Chr11:44254016 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1936-12C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499263] |
Chr11:44236281 [GRCh38] Chr11:44257831 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498232] |
Chr11:44171648 [GRCh38] Chr11:44193198 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.744-12T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499556] |
Chr11:44124777 [GRCh38] Chr11:44146327 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499614] |
Chr11:44124805 [GRCh38] Chr11:44146355 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498328] |
Chr11:44126920 [GRCh38] Chr11:44148470 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.939+1G>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499969] |
Chr11:44124985 [GRCh38] Chr11:44146535 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_207122.2(EXT2):c.1663-14G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499707] |
Chr11:44232339 [GRCh38] Chr11:44253889 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1128T>C (p.Ile376=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497418] |
Chr11:44130093 [GRCh38] Chr11:44151643 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003497453] |
Chr11:44107977 [GRCh38] Chr11:44129527 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1173+8G>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499563] |
Chr11:44130146 [GRCh38] Chr11:44151696 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2019-2A>G |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499711] |
Chr11:44244147 [GRCh38] Chr11:44265697 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1079+13T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003498470] |
Chr11:44126968 [GRCh38] Chr11:44148518 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs) |
deletion |
Exostoses, multiple, type 2 [RCV003498577] |
Chr11:44236332..44236342 [GRCh38] Chr11:44257882..44257892 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1392C>T (p.Asp464=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499213] |
Chr11:44197915 [GRCh38] Chr11:44219465 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499056] |
Chr11:44109283 [GRCh38] Chr11:44130833 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.570C>T (p.Asn190=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499254] |
Chr11:44109227 [GRCh38] Chr11:44130777 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1173+9C>T |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499244] |
Chr11:44130147 [GRCh38] Chr11:44151697 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499509] |
Chr11:44108142 [GRCh38] Chr11:44129692 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499741] |
Chr11:44124895 [GRCh38] Chr11:44146445 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1626T>A (p.Ile542=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499747] |
Chr11:44206923 [GRCh38] Chr11:44228473 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1221C>G (p.Ala407=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003499840] |
Chr11:44171658 [GRCh38] Chr11:44193208 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.278T>C (p.Val93Ala) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003821211] |
Chr11:44107990 [GRCh38] Chr11:44129540 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.536+15T>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003860076] |
Chr11:44108263 [GRCh38] Chr11:44129813 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2018+17C>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003870790] |
Chr11:44236392 [GRCh38] Chr11:44257942 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1806+16C>A |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003863894] |
Chr11:44232512 [GRCh38] Chr11:44254062 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.744-10dup |
duplication |
Exostoses, multiple, type 2 [RCV003866072] |
Chr11:44124772..44124773 [GRCh38] Chr11:44146322..44146323 [GRCh37] Chr11:11p11.2 |
benign |
NM_207122.2(EXT2):c.798A>G (p.Arg266=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003819903] |
Chr11:44124843 [GRCh38] Chr11:44146393 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1306-8T>C |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003860859] |
Chr11:44197821 [GRCh38] Chr11:44219371 [GRCh37] Chr11:11p11.2 |
likely benign |
GRCh37/hg19 11p11.2(chr11:44146329-44221748)x3 |
copy number gain |
not specified [RCV003986946] |
Chr11:44146329..44221748 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.720G>A (p.Val240=) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003865142] |
Chr11:44114278 [GRCh38] Chr11:44135828 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg) |
single nucleotide variant |
Exostoses, multiple, type 2 [RCV003860987] |
Chr11:44236315 [GRCh38] Chr11:44257865 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.558C>T (p.His186=) |
single nucleotide variant |
EXT2-related condition [RCV003942327] |
Chr11:44109215 [GRCh38] Chr11:44130765 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.2137C>T (p.Pro713Ser) |
single nucleotide variant |
EXT2-related condition [RCV003959497] |
Chr11:44244267 [GRCh38] Chr11:44265817 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.757T>C (p.Phe253Leu) |
single nucleotide variant |
EXT2-related condition [RCV003964626] |
Chr11:44124802 [GRCh38] Chr11:44146352 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_207122.2(EXT2):c.1173+14171G>T |
single nucleotide variant |
EXT2-related condition [RCV003949483] |
Chr11:44144309 [GRCh38] Chr11:44165859 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.*4G>A |
single nucleotide variant |
EXT2-related condition [RCV003904616] |
Chr11:44244291 [GRCh38] Chr11:44265841 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.111C>T (p.Leu37=) |
single nucleotide variant |
EXT2-related condition [RCV003979808] |
Chr11:44107823 [GRCh38] Chr11:44129373 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.*10T>C |
single nucleotide variant |
EXT2-related condition [RCV003959314] |
Chr11:44244297 [GRCh38] Chr11:44265847 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_207122.2(EXT2):c.1422T>G (p.Thr474=) |
single nucleotide variant |
EXT2-related condition [RCV003896577] |
Chr11:44197945 [GRCh38] Chr11:44219495 [GRCh37] Chr11:11p11.2 |
likely benign |