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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr10:52489127-88906961
GRCh38:
Chr10:50729367-87147204
ADK, ANK3, ANXA7, ANXA11, BMPR1A, CAMK2G, CDK1, COL13A1, DNA2, EGR2, EIF4EBP2, GLUD1, GRID1, HK1, HNRNPH3, KCNMA1, MAT1A, MBL2, NODAL, P4HA1, PCBD1, PLAU, PPA1, PPP3CB, PRF1, SRGN, PRKG1, PSAP, RGR, RPS24, SFTPD, SNCG, SUPV3L1, TACR2, TFAM, UBE2D1, VCL, VDAC2, CCDC6, SLC25A16, NDST2, SGPL1, DDX21, DLG5, CHST3, VPS26A, SEC24C, SPOCK2, RHOBTB1, PPIF, MICU1, NRG3, ADIRF, POLR3A, ZWINT, LDB3, ECD, ZNF365, DKK1, ZSWIM8, WAPL, DNAJC9, CSTF2T, SIRT1, KAT6B, TSPAN15, NUDT13, HERC4, LRIT1, KIFBP, AP3M1, GHITM, PALD1, CTNNA3, A1CF, NRBF2, NEUROG3, ASCC1, MRPS16, DUSP13, CCSER2, SHLD2, DDIT4, DNAJB12, LRRC20, SLC29A3, MACROH2A2, RUFY2, CCAR1, CISD1, DNAJC12, SAR1A, ZMIZ1, MYOZ1, CDH23, PBLD, NPFFR1, VSIR, PCDH15, DDX50, MMRN2, SYNPO2L, BICC1, TMEM254, HKDC1, TET1, TSPAN14, LRMDA, ARID5B, PRXL2A, DYDC2, PHYHIPL, PLA2G12B, MYPN, ZNF503, AIFM2, ADO, JMJD1C-AS1, MCU, CDHR1, OPN4, CHCHD1, MSS51, CFAP70, COMTD1, AGAP11, ANAPC16, ADAMTS14, SAMD8, DYDC1, EIF5AL1, USP54, FUT11, OIT3, LINC00858, TMEM254-AS1, PLAC9, CABCOCO1, TMEM26, ZCCHC24, UNC5B, STOX1, FAM241B, TYSND1, RTKN2, TBATA, ATOH7, SLC16A9, FAM13C, REEP3, JMJD1C, ZNF503-AS1, IPMK, NUTM2E, LINC01553, LOC283045, ZMIZ1-AS1, FAM149B1, DUPD1, LRIT2, LRRTM3, SH2D4B, C10orf99, C10orf105, C10orf55, LINC00595, DNAJC9-AS1, LINC00857, MIR346, LOC642361, CERNA2, FAM25A, ASAH2B, SFTPA1, SNORD98, MIR605, MIR606, UNC5B-AS1, AGAP5, SFTPA2, NUTM2B, LOC729815, DLG5-AS1, LOC100130698, LOC100131132, ZNF503-AS2, LINC00856, ADIRF-AS1, TRS-TGA1-1, MIR1296, MIR548F1, MIR1254-1, MTRNR2L5, MIR3924, PRKG1-AS1, LINC00844, MRLN, LINC00845, ZSWIM8-AS1, GRID1-AS1, MIR4676, NUTM2B-AS1, LNCAROD, TMEM26-AS1, LINC02671, LINC01515, LOC101928961, LOC101928994, PPP3CB-AS1, LOC101929165, LOC101929234, KCNMA1-AS3, KCNMA1-AS2, KCNMA1-AS1, LOC101929574, NRG3-AS1, LINC01519, LINC02647, LOC101929662, LINC01520, MIR7152, MIR7151, LINC02636, CDH23-AS1, LOC102723439, LOC102723703, LOC102724719, LOC105378305, LINC02672, LOC105378311, ANK3-DT, LINC02621, LOC105378330, LINC02651, LINC02622, LOC105378367, LINC02679, LINC02655, LINC02650, CCEPR, LOC107832851, LOC107984236, LOC108178982, SNORA11F, SNORD172, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121486, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC111982876, LOC111982877, LOC111982878, LOC112268068, LOC113939917
See casesPathogenic
(Dec 16, 2011)
no assertion criteria providedVCV000148945
2.
GRCh37:
Chr10:65162339-77055857
GRCh38:
Chr10:63402579-75296099
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147477
3.
GRCh37:
Chr10:68956325-81181813
GRCh38:
Chr10:67196567-79422057
ADK, ANXA7, CAMK2G, COL13A1, DNA2, EIF4EBP2, HK1, HNRNPH3, KCNMA1, NODAL, P4HA1, PCBD1, PLAU, PPA1, PPP3CB, PRF1, SRGN, PSAP, RPS24, SUPV3L1, TACR2, VCL, VDAC2, SLC25A16, NDST2, SGPL1, DDX21, DLG5, CHST3, VPS26A, SEC24C, SPOCK2, PPIF, MICU1, POLR3A, ECD, ZSWIM8, DNAJC9, SIRT1, KAT6B, TSPAN15, NUDT13, HERC4, KIFBP, AP3M1, PALD1, CTNNA3, NEUROG3, ASCC1, MRPS16, DUSP13, DDIT4, DNAJB12, LRRC20, SLC29A3, MACROH2A2, RUFY2, CCAR1, DNAJC12, SAR1A, ZMIZ1, MYOZ1, CDH23, PBLD, NPFFR1, VSIR, DDX50, SYNPO2L, HKDC1, TET1, LRMDA, PLA2G12B, MYPN, ZNF503, AIFM2, MCU, CHCHD1, MSS51, CFAP70, COMTD1, ANAPC16, ADAMTS14, SAMD8, USP54, FUT11, OIT3, ZCCHC24, UNC5B, STOX1, FAM241B, TYSND1, TBATA, ATOH7, ZNF503-AS1, ZMIZ1-AS1, FAM149B1, DUPD1, C10orf105, C10orf55, LINC00595, DNAJC9-AS1, SNORD98, MIR606, UNC5B-AS1, AGAP5, DLG5-AS1, LOC100131132, ZNF503-AS2, LINC00856, TRS-TGA1-1, MIR1254-1, ZSWIM8-AS1, MIR4676, LOC101928994, PPP3CB-AS1, LOC101929165, LOC101929234, KCNMA1-AS3, KCNMA1-AS2, KCNMA1-AS1, MIR7152, MIR7151, LINC02636, CDH23-AS1, LOC102723439, LINC02651, LINC02622, LOC105378367, LOC107832851, LOC108178982, SNORA11F, SNORD172, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC113939917
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146115
4.
GRCh37:
Chr10:74480386-77372132
GRCh38:
Chr10:72720628-75612374
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058745
5.
GRCh37:
Chr10:76512809-76643827
GRCh38:
Chr10:74753051-74825845
KAT6B, LOC110121382See casesLikely benign
(Nov 30, 2010)
no assertion criteria providedVCV000145836
6.
GRCh37:
Chr10:76586255
GRCh38:
Chr10:74826497
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300849
7.
GRCh37:
Chr10:76586309
GRCh38:
Chr10:74826551
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300850
8.
GRCh37:
Chr10:76586448-76586453
GRCh38:
Chr10:74826690-74826695
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300851
9.
GRCh37:
Chr10:76586510
GRCh38:
Chr10:74826752
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300852
10.
GRCh37:
Chr10:76598491
GRCh38:
Chr10:74838733
KAT6Bnot specifiedLikely benign
(Nov 9, 2017)
criteria provided, single submitterVCV000507335
11.
GRCh37:
Chr10:76602371
GRCh38:
Chr10:74842613
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300853
12.
GRCh37:
Chr10:76602724
GRCh38:
Chr10:74842966
KAT6BS37GKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300854
13.
GRCh37:
Chr10:76602734
GRCh38:
Chr10:74842976
KAT6BH40Rnot providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000561971
14.
GRCh37:
Chr10:76602872
GRCh38:
Chr10:74843114
KAT6BG86fsnot providedPathogenic
(Aug 23, 2016)
criteria provided, single submitterVCV000265697
15.
GRCh37:
Chr10:76602897
GRCh38:
Chr10:74843139
KAT6BS95fsnot providedPathogenic
(Jul 30, 2018)
criteria provided, single submitterVCV000561960
16.
GRCh37:
Chr10:76602922
GRCh38:
Chr10:74843164
KAT6BR103CKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300855
17.
GRCh37:
Chr10:76602970
GRCh38:
Chr10:74843212
KAT6BE119Qnot providedUncertain significance
(Jan 25, 2017)
criteria provided, single submitterVCV000393162
18.
GRCh37:
Chr10:76602980
GRCh38:
Chr10:74843222
KAT6BN122Snot providedUncertain significance
(Dec 16, 2016)
criteria provided, single submitterVCV000499275
19.
GRCh37:
Chr10:76602990
GRCh38:
Chr10:74843232
KAT6BKAT6B-Related Spectrum Disorders, not providedBenign/Likely benign
(Nov 18, 2016)
criteria provided, multiple submitters, no conflictsVCV000300856
20.
GRCh37:
Chr10:76603072
GRCh38:
Chr10:74843314
KAT6BR153*not providedPathogenic
(Nov 21, 2018)
criteria provided, single submitterVCV000620483
21.
GRCh37:
Chr10:76603142
GRCh38:
Chr10:74843384
KAT6Bnot providednot providedno assertion providedVCV000140478
22.
GRCh37:
Chr10:76603482
GRCh38:
Chr10:74843724
KAT6Bnot providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000561579
23.
GRCh37:
Chr10:76719679
GRCh38:
Chr10:74959921
KAT6Bnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561577
24.
GRCh37:
Chr10:76719731
GRCh38:
Chr10:74959973
KAT6BR209Cnot providedUncertain significance
(Jan 18, 2018)
criteria provided, single submitterVCV000618694
25.
GRCh37:
Chr10:76719805
GRCh38:
Chr10:74960047
KAT6BN54SKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300857
26.
GRCh37:
Chr10:76719814-76719815
GRCh38:
Chr10:74960056-74960057
KAT6BA238fs, L57fsnot providedPathogenic
(Jan 5, 2017)
criteria provided, single submitterVCV000422921
27.
GRCh37:
Chr10:76720040
GRCh38:
Chr10:74960282
KAT6Bnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000561580
28.
GRCh37:
Chr10:76720081
GRCh38:
Chr10:74960323
KAT6Bnot providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000561581
29.
GRCh37:
Chr10:76729469
GRCh38:
Chr10:74969711
KAT6BA261Vnot specifiedUncertain significance
(Oct 28, 2016)
criteria provided, single submitterVCV000439843
30.
GRCh37:
Chr10:76729488
GRCh38:
Chr10:74969730
KAT6Bnot specifiedLikely benign
(Mar 1, 2017)
criteria provided, single submitterVCV000507759
31.
GRCh37:
Chr10:76729526
GRCh38:
Chr10:74969768
KAT6BR280Knot providedUncertain significance
(Dec 2, 2016)
criteria provided, single submitterVCV000377019
32.
GRCh37:
Chr10:76729527
GRCh38:
Chr10:74969769
KAT6Bnot specifiedLikely benign
(Feb 16, 2017)
criteria provided, single submitterVCV000507503
33.
GRCh37:
Chr10:76729535
GRCh38:
Chr10:74969777
KAT6Bnot providedUncertain significance
(Aug 31, 2017)
criteria provided, single submitterVCV000451759
34.
GRCh37:
Chr10:76729549
GRCh38:
Chr10:74969791
KAT6Bnot specifiedLikely benigncriteria provided, single submitterVCV000260251
35.
GRCh37:
Chr10:76729632
GRCh38:
Chr10:74969874
KAT6Bnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000561578
36.
GRCh37:
Chr10:76729789
GRCh38:
Chr10:74970031
KAT6Bnot specifiedLikely benigncriteria provided, single submitterVCV000260252
37.
GRCh37:
Chr10:76732033
GRCh38:
Chr10:74972275
KAT6Bnot providedBenign
(Jun 16, 2018)
criteria provided, single submitterVCV000561615
38.
GRCh37:
Chr10:76732253
GRCh38:
Chr10:74972495
KAT6Bnot specified, KAT6B-Related Spectrum DisordersBenign
(Aug 1, 2017)
criteria provided, multiple submitters, no conflictsVCV000300858
39.
GRCh37:
Chr10:76732269
GRCh38:
Chr10:74972511
KAT6BM311Inot providedUncertain significance
(Dec 13, 2017)
criteria provided, single submitterVCV000561705
40.
GRCh37:
Chr10:76732347
GRCh38:
Chr10:74972589
KAT6Bnot specifiedLikely benign
(Oct 2, 2017)
criteria provided, single submitterVCV000512421
41.
GRCh37:
Chr10:76732361
GRCh38:
Chr10:74972603
KAT6BI342TKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300859
42.
GRCh37:
Chr10:76735141
GRCh38:
Chr10:74975383
KAT6Bnot specifiedLikely benigncriteria provided, single submitterVCV000260232
43.
GRCh37:
Chr10:76735330
GRCh38:
Chr10:74975572
KAT6BK412RKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300860
44.
GRCh37:
Chr10:76735363
GRCh38:
Chr10:74975605
KAT6BS423CKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300861
45.
GRCh37:
Chr10:76735377
GRCh38:
Chr10:74975619
KAT6BN428Hnot providedUncertain significance
(Mar 31, 2017)
criteria provided, single submitterVCV000444225
46.
GRCh37:
Chr10:76735482
GRCh38:
Chr10:74975724
KAT6BR463Cnot providedUncertain significance
(Oct 18, 2016)
criteria provided, single submitterVCV000497974
47.
GRCh37:
Chr10:76735534
GRCh38:
Chr10:74975776
KAT6BA480VKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300862
48.
GRCh37:
Chr10:76735549
GRCh38:
Chr10:74975791
KAT6BQ485Rnot providedUncertain significance
(Jun 12, 2017)
criteria provided, single submitterVCV000432719
49.
GRCh37:
Chr10:76735563
GRCh38:
Chr10:74975805
KAT6BP490SKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300863
50.
GRCh37:
Chr10:76735607
GRCh38:
Chr10:74975849
KAT6BS504RKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300864
51.
GRCh37:
Chr10:76735631
GRCh38:
Chr10:74975873
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300865
52.
GRCh37:
Chr10:76735660
GRCh38:
Chr10:74975902
KAT6BS522YKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300866
53.
GRCh37:
Chr10:76735758
GRCh38:
Chr10:74976000
KAT6BG555RKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300867
54.
GRCh37:
Chr10:76735770
GRCh38:
Chr10:74976012
KAT6BK559EKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300868
55.
GRCh37:
Chr10:76735780
GRCh38:
Chr10:74976022
KAT6BH562Rnot providedUncertain significance
(Jan 23, 2018)
criteria provided, single submitterVCV000561722
56.
GRCh37:
Chr10:76735865-76735868
GRCh38:
Chr10:74976107-74976110
KAT6BR591fsnot providedLikely pathogenic
(Aug 30, 2017)
criteria provided, single submitterVCV000451543
57.
GRCh37:
Chr10:76735877
GRCh38:
Chr10:74976119
KAT6Bnot specifiedLikely benign
(Nov 9, 2017)
criteria provided, single submitterVCV000513307
58.
GRCh37:
Chr10:76735893
GRCh38:
Chr10:74976135
KAT6BH600Ynot specifiedLikely benigncriteria provided, single submitterVCV000260233
59.
GRCh37:
Chr10:76735895-76735897
GRCh38:
Chr10:74976137-74976139
KAT6BS605delnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591060
60.
GRCh37:
Chr10:76735959
GRCh38:
Chr10:74976201
KAT6BR622*Autosomal dominant KAT6B-related disordersPathogenic
(Mar 1, 2019)
criteria provided, single submitterVCV000692078
61.
GRCh37:
Chr10:76735982
GRCh38:
Chr10:74976224
KAT6Bnot specifiedLikely benigncriteria provided, single submitterVCV000260234
62.
GRCh37:
Chr10:76736022
GRCh38:
Chr10:74976264
KAT6BM643LSeizures, Generalized joint laxity, Macrocephalus,
Delayed speech and language development, Joint laxity, KAT6B-Related Spectrum Disorders
Uncertain significance
(Jan 1, 2017)
criteria provided, multiple submitters, no conflictsVCV000300869
63.
GRCh37:
Chr10:76737179
GRCh38:
Chr10:74977421
KAT6BQ700R, Q345R, Q517R, Q408Rnot providedUncertain significance
(May 22, 2017)
criteria provided, single submitterVCV000430339
64.
GRCh37:
Chr10:76738973
GRCh38:
Chr10:74979215
KAT6BGenitopatellar syndrome, Young Simpson syndromeUncertain significance
(Apr 13, 2018)
criteria provided, single submitterVCV000625964
65.
GRCh37:
Chr10:76741561
GRCh38:
Chr10:74981803
KAT6BL750M, L458M, L395M, L567M, L109Mnot providedLikely benign
(Apr 18, 2016)
criteria provided, single submitterVCV000235589
66.
GRCh37:
Chr10:76741695
GRCh38:
Chr10:74981937
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300870
67.
GRCh37:
Chr10:76744828
GRCh38:
Chr10:74985070
KAT6Bnot specified, KAT6B-Related Spectrum DisordersLikely benign
(Apr 6, 2017)
criteria provided, multiple submitters, no conflictsVCV000300871
68.
GRCh37:
Chr10:76744872-76744876
GRCh38:
Chr10:74985114-74985118
KAT6BN511fs, N448fs, N803fs, N620fsKBG syndromePathogenic
(Dec 28, 2017)
criteria provided, single submitterVCV000620054
69.
GRCh37:
Chr10:76744912
GRCh38:
Chr10:74985154
KAT6Bnot provided, not specifiedLikely benigncriteria provided, single submitterVCV000260235
70.
GRCh37:
Chr10:76744950
GRCh38:
Chr10:74985192
KAT6BL829H, L474H, L646H, L537Hnot providedUncertain significanceno assertion criteria providedVCV000091976
71.
GRCh37:
Chr10:76748830
GRCh38:
Chr10:74989072
KAT6BQ863H, Q300H, Q508H, Q517H, Q168H, Q680H, Q571H, Q82Hnot providedUncertain significance
(Aug 11, 2017)
criteria provided, single submitterVCV000451045
72.
GRCh37:
Chr10:76748879
GRCh38:
Chr10:74989121
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300872
73.
GRCh37:
Chr10:76780122
GRCh38:
Chr10:75020364
KAT6Bnot providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000561616
74.
GRCh37:
Chr10:76780543
GRCh38:
Chr10:75020785
KAT6BL945F, L590F, L382F, L164F, L250F, L599F, L653F, L762Fnot providedUncertain significance
(Mar 20, 2017)
criteria provided, single submitterVCV000424391
75.
GRCh37:
Chr10:76780598
GRCh38:
Chr10:75020840
KAT6Bnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000561655
76.
GRCh37:
Chr10:76780971
GRCh38:
Chr10:75021213
KAT6BD983E, D691E, D202E, D288E, D628E, D637E, D800E, D420EIntellectual disabilityLikely benign
(Jan 1, 2017)
criteria provided, single submitterVCV000562043
77.
GRCh37:
Chr10:76781040
GRCh38:
Chr10:75021282
KAT6BE312fs, E715fs, E652fs, E824fs, E1007fs, E226fs, E444fs, E661fsnot provided, Young Simpson syndromePathogenic
(Nov 11, 2011)
no assertion criteria providedVCV000030527
78.
GRCh37:
Chr10:76781044
GRCh38:
Chr10:75021286
KAT6Bnot providedPathogenic
(Dec 16, 2016)
criteria provided, single submitterVCV000391816
79.
GRCh37:
Chr10:76781650
GRCh38:
Chr10:75021892
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300873
80.
GRCh37:
Chr10:76781735
GRCh38:
Chr10:75021977
KAT6BQ1040*, Q748*, Q259*, Q857*, Q685*, Q694*, Q345*, Q477*not providedPathogenic
(Jun 14, 2018)
criteria provided, single submitterVCV000561859
81.
GRCh37:
Chr10:76781740
GRCh38:
Chr10:75021982
KAT6Bnot specifiedLikely benign
(Mar 1, 2017)
criteria provided, single submitterVCV000507770
82.
GRCh37:
Chr10:76781764
GRCh38:
Chr10:75022006
KAT6Bnot providedPathogenic
(Jan 2, 2019)
criteria provided, single submitterVCV000279815
83.
GRCh37:
Chr10:76781771-76781786
GRCh38:
Chr10:75022013-75022028
KAT6BR760fs, R869fs, R357fs, R489fs, R697fs, R1052fs, R271fs, R706fsCraniosynostosis 1, ArachnodactylyUncertain significanceno assertion criteria providedVCV000374242
84.
GRCh37:
Chr10:76781789
GRCh38:
Chr10:75022031
KAT6BR1058*, R277*, R495*, R712*, R363*, R703*, R766*, R875*not providedPathogenic
(May 1, 2018)
criteria provided, single submitterVCV000523902
85.
GRCh37:
Chr10:76781833
GRCh38:
Chr10:75022075
KAT6BE378fs, E727fs, E718fs, E781fs, E292fs, E510fs, E890fs, E1073fsYoung Simpson syndromePathogenic
(May 9, 2016)
no assertion criteria providedVCV000438296
86.
GRCh37:
Chr10:76781848
GRCh38:
Chr10:75022090
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300875
87.
GRCh37:
Chr10:76781848
GRCh38:
Chr10:75022090
KAT6BD1077E, D722E, D731E, D785E, D894E, D296E, D382E, D514EKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300874
88.
GRCh37:
Chr10:76781848-76781859
GRCh38:
Chr10:75022090-75022101
KAT6BGenitopatellar syndrome, Young Simpson syndrome, not specified
Conflicting interpretations of pathogenicity
(Feb 16, 2018)
criteria provided, conflicting interpretationsVCV000260236
89.
GRCh37:
Chr10:76781855
GRCh38:
Chr10:75022097
KAT6BE1080K, E385K, E725K, E788K, E299K, E734K, E897K, E517Knot providedLikely benign
(May 15, 2018)
criteria provided, single submitterVCV000618183
90.
GRCh37:
Chr10:76781863
GRCh38:
Chr10:75022105
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000300876
91.
GRCh37:
Chr10:76781869-76781871
GRCh38:
Chr10:75022111-75022113
KAT6BE1089delnot specifiedLikely benign
(Mar 7, 2018)
criteria provided, single submitterVCV000515823
92.
GRCh37:
Chr10:76781869-76781880
GRCh38:
Chr10:75022111-75022122
KAT6Bnot specified, Genitopatellar syndrome, not provided
Benign
(Aug 1, 2017)
criteria provided, multiple submitters, no conflictsVCV000260237
93.
GRCh37:
Chr10:76781870
GRCh38:
Chr10:75022112
KAT6BE1085fs, E304fs, E390fs, E730fs, E739fs, E902fs, E793fs, E522fsnot providedPathogenic
(Apr 17, 2018)
criteria provided, single submitterVCV000524091
94.
GRCh37:
Chr10:76781873
GRCh38:
Chr10:75022115
KAT6BE1086*, E903*, E391*, E740*, E305*, E523*, E731*, E794*Young Simpson syndromeLikely pathogenic
(Aug 7, 2017)
criteria provided, single submitterVCV000559862
95.
GRCh37:
Chr10:76781880
GRCh38:
Chr10:75022122
KAT6BInborn genetic diseasesPathogenic
(Feb 21, 2014)
criteria provided, single submitterVCV000225094
96.
GRCh37:
Chr10:76781888-76781890
GRCh38:
Chr10:75022130-75022132
KAT6BE1104del, E409del, E758del, E921del, E541del, E812del, E749del, E323delnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591013
97.
GRCh37:
Chr10:76781903
GRCh38:
Chr10:75022145
KAT6BE1096*, E315*, E401*, E750*, E804*, E533*, E913*, E741*not providedPathogenic
(Mar 15, 2017)
criteria provided, single submitterVCV000424129
98.
GRCh37:
Chr10:76781904
GRCh38:
Chr10:75022146
KAT6BE1096A, E315A, E401A, E804A, E741A, E750A, E533A, E913AKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300877
99.
GRCh37:
Chr10:76781906
GRCh38:
Chr10:75022148
KAT6BE1097K, E402K, E742K, E805K, E316K, E534K, E914K, E751KKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000300878
100.
GRCh37:
Chr10:76781927-76781929
GRCh38:
Chr10:75022169-75022171
KAT6Bnot specifiedBenign/Likely benign
(Aug 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000260238
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