Unique variants in the SHOX gene

Information The variants shown are described using the transcript reference sequence.

1208 entries on 13 pages. Showing entries 1 - 100.
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Effect     

Reported     

Function/GVS     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Predict/CADD     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - _1 c.-706G>A r.(?) p.(=) - - - VUS g.585064G>A g.624329G>A - - SHOX_001282 21/168 control alleles PubMed: Roman Solc 2014 - rs28378830 Germline - 11/45 patients - - - Ralph Roeth
-/. 1 - - c.-706G>C r.(?) p.(=) - - - benign g.585064G>C g.624329G>C - - SHOX_001341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/. 2 - _1 c.-704G>A r.(?) p.(=) - - - benign, VUS g.585066G>A g.624331G>A - - SHOX_001281 21/168 control alleles, VKGL data sharing initiative Nederland PubMed: Roman Solc 2014 - rs2837750 CLASSIFICATION record, Germline - 11/45 patients - - - Ralph Roeth, VKGL-NL_Nijmegen
-/., ?/. 2 - _1 c.-695C>A r.(?) p.(=) - - - benign, VUS g.585075C>A g.624340C>A - - SHOX_001280 20/168 control alleles, VKGL data sharing initiative Nederland PubMed: Roman Solc 2014 - rs28609780 CLASSIFICATION record, Germline - 12/45 patients - - - Ralph Roeth, VKGL-NL_Nijmegen
+/. 1 - _1_3i c.(?_-691)_(486+1_487-1)del r.0 p.0 - - - pathogenic g.(?_585079)_(595562_601555)del - del ex1-3 - SHOX_001297 - PubMed: Bunyan 2013 - - Germline - - - - - Johan den Dunnen
+/. 1 - _1_3i c.(?_-691)_(486+1_487-1)dup r.(?) p.(?) - - - pathogenic g.(?_585079)_(595562_601555)dup - dup ex1-3 - SHOX_001298 - PubMed: Bunyan 2013 - - Germline - - - - - Johan den Dunnen
-/. 4 5'UTR 1 c.-686G>C r.(=), r.(?) p.(=) - - - benign g.585084G>C g.624349G>C - - SHOX_000163 2/20 control alleles, 20/168 control alleles, VKGL data sharing initiative Nederland SHOX Lab Heidelberg, unpublished, PubMed: Roman Solc 2014 - rs28475683 CLASSIFICATION record, Germline - 11/45 patients, 6/31 patients +MnlI;-Cac8I - - Ralph Roeth, VKGL-NL_Nijmegen
-/. 4 5'UTR 1 c.-680G>T r.(=), r.(?) p.(=) - - - benign g.585090G>T g.624355G>T - - SHOX_000216 22/168 control alleles, 4/20 control alleles, VKGL data sharing initiative Nederland SHOX Lab Heidelberg, unpublished, PubMed: Roman Solc 2014 - rs3813940 CLASSIFICATION record, Germline - 12/45 patients, 27/52 patients - - - Ralph Roeth, VKGL-NL_Nijmegen
?/? 1 5'UTR 1 c.-646_-645insG r.(=) p.(=) - - - VUS g.585124_585125insG g.624389_624390insG - - SHOX_000359 - - - rs199946685 Germline - - - - - Ralph Roeth
?/? 1 5'UTR 1 c.-646_-645insGT r.(=) p.(=) - - - VUS g.585124_585125insGT g.624389_624390insGT c.-647_-646insTG - SHOX_000358 - - - rs68102883 Germline - - - - - Ralph Roeth
?/? 1 5'UTR 1 c.-646_-645insGTT r.(=) p.(=) - - - VUS g.585124_585125insGTT g.624389_624390insGTT c.-648_-647insTTG - SHOX_000357 - - - rs200223988 Germline - - - - - Ralph Roeth
-?/., ?/? 2 5'UTR 1 c.-645T>G r.(=), r.(?) p.(=) - - - likely benign, VUS g.585125T>G g.624390T>G - - SHOX_000361 VKGL data sharing initiative Nederland - - rs200022908 CLASSIFICATION record, Germline - - - - - Ralph Roeth, VKGL-NL_Nijmegen
?/? 1 5'UTR 1 c.-645_-644insGTT r.(=) p.(=) - - - VUS g.585125_585126insGTT g.624390_624391insGTT - - SHOX_000360 - - - rs72118607 Germline - - - - - Ralph Roeth
?/. 1 5'UTR 1 c.-644T>G r.(=) p.(=) - - - VUS g.585126T>G g.624391T>G - - SHOX_001305 25/168 control alleles PubMed: Roman Solc 2014 - rs200022908 Germline - 16/45 patients - - - Ralph Roeth
-?/. 1 - - c.-639_-638insGGG r.(?) p.(=) - - - likely benign g.585131_585132insGGG - - - SHOX_001342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 2 5'UTR 1 c.-636del r.(=) p.(=) - - - VUS g.585134del g.624399del c.-637delT - SHOX_000362 - - - rs55872554, rs72246778 Germline - - - - - Ralph Roeth
?/? 2 5'UTR 1 c.-636dup r.(=) p.(=) - - - VUS g.585134dup g.624399dup c.-636_-635insT, c.-649_-648insT - SHOX_000356 - - - rs112273183, rs59633441 Germline - - - - - Ralph Roeth
-/., -?/., ?/? 4 5'UTR 1 c.-512C>A r.(=), r.(?) p.(=) - - - benign, likely benign, VUS g.585258C>A g.624523C>A SHOX(NM_000451.3):c.-512C>A - SHOX_000365 4/168 control alleles, VKGL data sharing initiative Nederland PubMed: Roman Solc 2014 - rs113313554 CLASSIFICATION record, Germline - 1/45 patients -FauI - - Ralph Roeth, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., ?/? 4 5'UTR 1 c.-507G>C r.(=), r.(?) p.(=) - - - benign, VUS g.585263G>C g.624528G>C SHOX(NM_000451.3):c.-507G>C - SHOX_000366 VKGL data sharing initiative Nederland PubMed: Roman Solc 2014 - rs111549748 CLASSIFICATION record, Germline - 15/45 patients +BmgBI, +BsmFI, +HpyCH4IV, -MnlI - - Ralph Roeth, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/? 1 5'UTR 1 c.-505T>C r.(=) p.(=) - - - VUS g.585265T>C g.624530T>C - - SHOX_000367 - - - rs185642798 Germline - - - - - Ralph Roeth
+/. 1 - 1i_2i c.(-433+1_-432-1)_(277+1_278-1)del r.? p.0 - - - pathogenic g.(585338_591200)_(591910_595352)del - del ex2 - SHOX_001299 - PubMed: Bunyan 2013 - - Germline - - - - - Johan den Dunnen
+/. 1 - 1i_6b_ c.(-433+1_-432-1)_(*1_?)del r.? p.0 - - - pathogenic g.(585338_591200)_(619565_675000)del - del ex2-6b - SHOX_001300 - PubMed: Bunyan 2013 - - Germline - - - - - Johan den Dunnen
?/? 1 - 1i c.-433+35C>G r.(=) p.(=) - - - VUS g.585372C>G g.624637C>G - - SHOX_000368 - - - rs188606110 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+68C>G r.(=) p.(=) - - - VUS g.585405C>G g.624670C>G - - SHOX_000369 - - - rs76128023 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+102del r.(=) p.(=) - - - VUS g.585439del g.624704del c.-433+99delT - SHOX_000370 - - - rs111859421 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+110_-433+111insTCTTTCTTTCTTTCTT r.(=) p.(=) - - - VUS g.585447_585448insTCTTTCTTTCTTTCTT g.624712_624713insTCTTTCTTTCTTTCTT - - SHOX_000371 - - - rs72026859 Germline - - +MboII - - Ralph Roeth
?/? 1 - 1i c.-433+147C>T r.(=) p.(=) - - - VUS g.585484C>T g.624749C>T - - SHOX_000372 - - - rs112115955 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+213C>A r.(=) p.(=) - - - VUS g.585550C>A g.624815C>A - - SHOX_000373 - - - rs193253982 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+263T>C r.(=) p.(=) - - - VUS g.585600T>C g.624865T>C - - SHOX_000374 - - - rs184229435 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+285_-433+287del r.(=) p.(=) - - - VUS g.585622_585624del g.624887_624889del - - SHOX_000375 - - - rs72394420 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+287T>C r.(=) p.(=) - - - VUS g.585624T>C g.624889T>C - - SHOX_000376 - - - rs188998470 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+323del r.(=) p.(=) - - - VUS g.585660del g.624925del c.-433+322delT - SHOX_000379 - - - rs72342908 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+323dup r.(=) p.(=) - - - VUS g.585660dup g.624925dup c.-433+320_-433+321insT - SHOX_000378 - - - rs201836063 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+324_-433+326del r.(=) p.(=) - - - VUS g.585661_585663del g.624926_624928del c.-433+322_-433+324delTTC - SHOX_000380 - - - rs200449252 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+328_-433+331del r.(=) p.(=) - - - VUS g.585665_585668del g.624930_624933del c.-433+308_-433+311delCTTT - SHOX_000377 - - - rs201032866 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+332del r.(=) p.(=) - - - VUS g.585669del g.624934del c.-433+329delT - SHOX_000381 - - - rs201528640 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+347G>T r.(=) p.(=) - - - VUS g.585684G>T g.624949G>T - - SHOX_000382 - - - rs139267227 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+351G>C r.(=) p.(=) - - - VUS g.585688G>C g.624953G>C - - SHOX_000383 - - - rs142673233 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+381C>T r.(=) p.(=) - - - VUS g.585718C>T g.624983C>T - - SHOX_000384 - - - rs181138816 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+394C>A r.(=) p.(=) - - - VUS g.585731C>A g.624996C>A - - SHOX_000385 - - - rs184089952 Germline - - - - - Ralph Roeth
?/? 2 - 1i c.-433+457dup r.(=) p.(=) - - - VUS g.585794dup g.625059dup c.-433+455_-433+456insC, c.-433+456_-433+457insC - SHOX_000386 - - - rs199719352, rs66764002 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+476T>C r.(=) p.(=) - - - VUS g.585813T>C g.625078T>C - - SHOX_000388 - - - rs189438190 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+532T>C r.(=) p.(=) - - - VUS g.585869T>C g.625134T>C - - SHOX_000389 - - - rs118144258 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+619_-433+621del r.(=) p.(=) - - - VUS g.585956_585958del g.625221_625223del c.-433+602_-433+604delCTC - SHOX_000390 - - - rs200808982 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+625C>T r.(=) p.(=) - - - VUS g.585962C>T g.625227C>T - - SHOX_000391 - - - rs59852860 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+627C>T r.(=) p.(=) - - - VUS g.585964C>T g.625229C>T - - SHOX_000392 - - - rs186124877 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+657C>T r.(=) p.(=) - - - VUS g.585994C>T g.625259C>T - - SHOX_000393 - - - rs73607249 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+671A>G r.(=) p.(=) - - - VUS g.586008A>G g.625273A>G - - SHOX_000394 - - - rs145780030 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+689dup r.(=) p.(=) - - - VUS g.586026dup g.625291dup c.-433+686_-433+687insT - SHOX_000395 - - - rs202142245 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+704A>T r.(=) p.(=) - - - VUS g.586041A>T g.625306A>T - - SHOX_000396 - - - rs28379110 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+742C>A r.(=) p.(=) - - - VUS g.586079C>A g.625344C>A - - SHOX_000397 - - - rs73187997 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+758G>A r.(=) p.(=) - - - VUS g.586095G>A g.625360G>A - - SHOX_000398 - - - rs71204377 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+798C>T r.(=) p.(=) - - - VUS g.586135C>T g.625400C>T - - SHOX_000399 - - - rs35099437 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+900T>A r.(=) p.(=) - - - VUS g.586237T>A g.625502T>A - - SHOX_000400 - - - rs181996933 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+902G>T r.(=) p.(=) - - - VUS g.586239G>T g.625504G>T - - SHOX_000401 - - - rs75214470 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+910T>C r.(=) p.(=) - - - VUS g.586247T>C g.625512T>C - - SHOX_000402 - - - rs190781180 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+950_-433+960del r.(=) p.(=) - - - VUS g.586287_586297del g.625552_625562del c.-433+944_-433+954delTCTCTCCTCTG - SHOX_000403 - - - rs200316982 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+964A>C r.(=) p.(=) - - - VUS g.586301A>C g.625566A>C - - SHOX_000404 - - - rs113943192 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1023G>T r.(=) p.(=) - - - VUS g.586360G>T g.625625G>T - - SHOX_000405 - - - rs182601552 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1056_-433+1070del r.(=) p.(=) - - - VUS g.586393_586407del g.625658_625672del - - SHOX_000406 - - - rs56369568 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1081_-433+1082del r.(=) p.(=) - - - VUS g.586418_586419del g.625683_625684del - - SHOX_000407 - - - rs56097705 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1087C>G r.(=) p.(=) - - - VUS g.586424C>G g.625689C>G - - SHOX_000408 - - - rs55704358 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1091dup r.(=) p.(=) - - - VUS g.586428dup g.625693dup c.-433+1089delTinsTC - SHOX_000409 - - - rs56091064 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1097C>A r.(=) p.(=) - - - VUS g.586434C>A g.625699C>A - - SHOX_000410 - - - rs55747259 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1103T>G r.(=) p.(=) - - - VUS g.586440T>G g.625705T>G - - SHOX_000411 - - - rs55812621 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1164C>A r.(=) p.(=) - - - VUS g.586501C>A g.625766C>A - - SHOX_000412 - - - rs191449089 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1190C>G r.(=) p.(=) - - - VUS g.586527C>G g.625792C>G - - SHOX_000413 - - - rs182348306 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1203G>A r.(=) p.(=) - - - VUS g.586540G>A g.625805G>A - - SHOX_000414 - - - rs55713378 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1359_-433+1361del r.(=) p.(=) - - - VUS g.586696_586698del g.625961_625963del - - SHOX_000415 - - - rs199515332 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1826C>T r.(=) p.(=) - - - VUS g.587163C>T g.626428C>T - - SHOX_000416 - - - rs193032776 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1892C>A r.(=) p.(=) - - - VUS g.587229C>A g.626494C>A - - SHOX_000417 - - - rs184819550 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1914C>G r.(=) p.(=) - - - VUS g.587251C>G g.626516C>G - - SHOX_000418 - - - rs187292767 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1935C>T r.(=) p.(=) - - - VUS g.587272C>T g.626537C>T - - SHOX_000419 - - - rs192280891 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+1947_-433+1948insTT r.(=) p.(=) - - - VUS g.587284_587285insTT g.626549_626550insTT c.-433+1946_-433+1947insTT - SHOX_000420 - - - rs200540309 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+2108C>G r.(=) p.(=) - - - VUS g.587445C>G g.626710C>G - - SHOX_000421 - - - rs183960457 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+2158C>T r.(=) p.(=) - - - VUS g.587495C>T g.626760C>T - - SHOX_000422 - - - rs28628346 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+2276C>T r.(=) p.(=) - - - VUS g.587613C>T g.626878C>T - - SHOX_000423 - - - rs189413904 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+2283C>T r.(=) p.(=) - - - VUS g.587620C>T g.626885C>T - - SHOX_000424 - - - rs181380783 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+2333T>C r.(=) p.(=) - - - VUS g.587670T>C g.626935T>C - - SHOX_000425 - - - rs184198834 Germline - - - - - Ralph Roeth
?/? 1 - 1i c.-433+2466_-433+2469del r.(=) p.(=) - - - VUS g.587803_587806del g.627068_627071del c.-433+2458_-433+2461delCTCT - SHOX_001306 - - - rs72181837 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2468_-433+2469dup r.(=) p.(=) - - - benign g.587805_587806dup g.627070_627071dup c.-433+2466delCinsCTC - SHOX_001307 - - - rs10563850 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2526C>T r.(=) p.(=) - - - benign g.587863C>T g.627128C>T - - SHOX_000427 - - - rs189530470 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2579C>T r.(=) p.(=) - - - benign g.587916C>T g.627181C>T - - SHOX_000428 - - - rs56361592 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2615C>T r.(=) p.(=) - - - benign g.587952C>T g.627217C>T - - SHOX_000429 - - - rs60244183 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2630G>T r.(=) p.(=) - - - benign g.587967G>T g.627232G>T - - SHOX_000430 - - - rs181887392 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2644C>T r.(=) p.(=) - - - benign g.587981C>T g.627246C>T - - SHOX_000431 - - - rs186530115 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2670G>T r.(=) p.(=) - - - benign g.588007G>T g.627272G>T - - SHOX_000432 - - - rs28603143 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2675C>T r.(=) p.(=) - - - benign g.588012C>T g.627277C>T - - SHOX_000433 - - - rs140739356 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2702C>G r.(=) p.(=) - - - benign g.588039C>G g.627304C>G - - SHOX_000434 - - - rs189065774 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2794C>T r.(=) p.(=) - - - benign g.588131C>T g.627396C>T - - SHOX_000435 - - - rs150081410 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2811A>T r.(=) p.(=) - - - benign g.588148A>T g.627413A>T - - SHOX_000436 - - - rs181462253 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2897T>C r.(=) p.(=) - - - benign g.588234T>C g.627499T>C - - SHOX_000437 - - - rs186973270 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-433+2900C>T r.(=) p.(=) - - - benign g.588237C>T g.627502C>T - - SHOX_000438 - - - rs111337057 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-432-2924G>C r.(=) p.(=) - - - benign g.588277G>C g.627542G>C - - SHOX_000439 - - - rs191058119 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-432-2922A>G r.(=) p.(=) - - - benign g.588279A>G g.627544A>G - - SHOX_000440 - - - rs183315462 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-432-2894T>A r.(=) p.(=) - - - benign g.588307T>A g.627572T>A - - SHOX_000441 - - - rs60285927 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-432-2883C>T r.(=) p.(=) - - - benign g.588318C>T g.627583C>T - - SHOX_000442 - - - rs185890709 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-432-2879T>G r.(=) p.(=) - - - benign g.588322T>G g.627587T>G - - SHOX_000443 - - - rs73607254 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-432-2866dup r.(=) p.(=) - - - benign g.588335dup g.627600dup c.-432-2866_-432-2865insG - SHOX_000444 - - - rs34483147 Germline - - - - - Ralph Roeth
-/. 1 - 1i c.-432-2851C>T r.(=) p.(=) - - - benign g.588350C>T g.627615C>T - - SHOX_000445 - - - rs35855719 Germline - - - - - Ralph Roeth
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