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Items: 1 to 100 of 218

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:42347406-135534747
ACADSB, ACTA2, ADAM8, ADD3, ADK, ADRA2A, ADRB1, ALOX5, ANK3, ANXA7, ANXA11, FAS, ARL3, BMPR1A, BNIP3, CAMK2G, CASP7, ENTPD1, CDK1, CHAT, CHUK, ABCC2, COL13A1, COL17A1, COX15, CPN1, CTBP2, CYP2C19, CYP2C8, CYP2C9, CYP2C18, CYP2E1, CYP17A1, CYP26A1, DMBT1, DNA2, DNTT, DOCK1, DUSP5, ECHS1, EGR2, EIF4EBP2, EMX2, ERCC6, FGF8, FGFR2, GDF2, GDF10, GFRA1, GLUD1, GOT1, PRLHR, GPR26, GRK5, GRID1, HABP2, HELLS, HHEX, HK1, HMX2, HNRNPF, HNRNPH3, TLX1, HPS1, HTR7, IDE, IFIT2, IFIT1, IFIT3, INPP5A, KCNMA1, KIF11, ABLIM1, LIPA, MAT1A, MBL2, MGMT, MKI67, MSMB, MXI1, NDUFB8, NFKB2, NODAL, NRAP, OAT, P4HA1, PAX2, PCBD1, PDE6C, PGAM1, PITX3, PLAU, PNLIP, PNLIPRP1, PNLIPRP2, PPA1, PPP1R3C, PPP3CB, NPY4R, PRF1, SRGN, PRKG1, MAPK8, HTRA1, PSAP, PSD, PTEN, PTPRE, ALDH18A1, RBP3, RBP4, RET, RGR, RGS10, RPS24, SCD, CXCL12, SFRP5, SFTPD, FBXW4, SLC18A2, SLC18A3, SLIT1, SNCG, SUPV3L1, TACR2, TAF5, TCF7L2, TECTB, TFAM, TIAL1, TLL2, UBE2D1, UROS, VCL, VDAC2, WNT8B, XPNPEP1, ZNF22, ZNF32, ZNF33B, CCDC6, NCOA4, SLC25A16, SHOC2, ADAM12, ZNF239, UTF1, PARG, NDST2, LIPF, EIF3A, GBF1, LDB1, SGPL1, BTRC, CH25H, PKD2L1, BTAF1, PAPSS2, INA, PDLIM1, SMC3, NEURL1, BUB3, DDX21, LGI1, NOLC1, DLG5, GSTO1, CHST3, BAG3, VPS26A, MINPP1, KIF20B, SEC24C, SH3PXD2A, FAM53B, GPRIN2, SLK, BMS1, SPOCK2, ZNF518A, RHOBTB1, DCLRE1A, FRAT1, PPIF, ACTR1A, SMNDC1, NPM3, MICU1, GLRX3, RPP30, DPYSL4, TACC2, SORBS1, ERLIN1, LBX1, NRG3, OGA, TUBGCP2, PRDX3, ADIRF, VAX1, DEPP1, ATE1, POLR3A, ZWINT, LDB3, SEC23IP, ECD, RAB11FIP2, CPEB3, INPP5F, ZNF365, DKK1, NT5C2, PDCD11, SORCS3, ZSWIM8, WAPL, PPRC1, ABRAXAS2, RRP12, TBC1D12, DNAJC9, DNMBP, CSTF2T, FRAT2, SIRT1, KAT6B, TSPAN15, IFIT5, DPCD, SEC31B, NUDT13, ATRNL1, HERC4, PTPN20, EDRF1, LRIT1, TCTN3, KIF1BP, C10orf12, ANKRD2, CNNM1, MYOF, AP3M1, ANKRD1, GHITM, PALD1, PDCD4, VENTX, R3HCC1L, POLL, CTNNA3, BLNK, A1CF, NRBF2, KCNIP2, CUZD1, CALY, NEUROG3, ASCC1, EXOSC1, MRPS16, CALHM2, CUTC, PLCE1, DUSP13, CHST15, SUFU, ACSL5, PANK1, FXYD4, CCSER2, EXOC6, SHLD2, DDIT4, CCNJ, MARCH5, ZRANB1, CFAP46, NSMCE4A, DNAJB12, CNNM2, WBP1L, CCDC186, CRTAC1, CEP55, LRRC20, CWF19L1, SLC29A3, RNLS, PI4K2A, CSGALNACT2, H2AFY2, HIF1AN, RUFY2, WDR11, SLF2, CCAR1, OGDHL, DHX32, PPP2R2D, CISD1, TDRD1, DNAJC12, ASAH2, BCCIP, TWNK, SAR1A, TM9SF3, ENTPD7, ZMIZ1, AS3MT, STAMBPL1, GPAM, SHTN1, FAM160B1, WDFY4, SEMA4G, ARHGAP22, MYOZ1, PLEKHA1, AVPI1, HPSE2, FAM204A, CDH23, LHPP, PBLD, NPFFR1, VSIR, MMS19, NOC3L, IKZF5, ZDHHC6, PCDH15, CUEDC2, DDX50, FBXL15, OR13A1, ARMH3, HPS6, MMRN2, MFSD13A, MCMBP, SYNPO2L, C10orf95, PLEKHS1, PDZD7, STN1, C10orf88, UBTD1, BICC1, TMEM254, HKDC1, CFAP43, TET1, LRRC27, TNKS2, TRIM8, TSPAN14, KAZALD1, SFXN3, SLC25A28, ELOVL3, MARVELD1, SYT15, RASSF4, LRMDA, PCGF6, ARID5B, LOXL4, ZDHHC16, PRXL2A, DYDC2, PCGF5, ADGRA1, LZTS2, PHYHIPL, LCOR, NKX6-2, MRPL43, AFAP1L2, PLA2G12B, MYPN, PYROXD2, ATP5MD, ZNF503, AIFM2, ADO, ATAD1, ARHGAP19, KNDC1, ITPRIP, MCU, MTG1, CDHR1, BBIP1, FANK1, OPALIN, SYCE1, ZFAND4, OPN4, HOGA1, SORCS1, C10orf71, PRAP1, ZNF511, CHCHD1, MSS51, CFAP70, C10orf90, BTBD16, FAM24A, PSTK, ZNF488, PIK3AP1, MORN4, ZFYVE27, MMP21, COMTD1, FRA10AC1, ANKRD22, SFXN2, PDZD8, AGAP4, BORCS7, AGAP11, GSTO2, SFR1, CALHM3, CLRN3, ANAPC16, PNLIPRP3, SFXN4, CPXM2, ADAMTS14, ACSM6, SAMD8, LIPJ, TRUB1, FRMPD2, VTI1A, DYDC1, EIF5AL1, HECTD2, FGFBP3, C10orf82, CACUL1, USP54, NKX2-3, SLC35G1, CFAP58, FAM170B, TMEM273, FUT11, OIT3, C10orf91, PWWP2B, EMX2OS, PLPP4, VSTM4, PAOX, FAM24B, PLAC9, CABCOCO1, TMEM26, ZCCHC24, UNC5B, STOX1, FAM241B, TYSND1, RTKN2, TBATA, ATOH7, SLC16A9, FAM13C, MARCH8, C10orf25, ZNF485, RASGEF1A, REEP3, JMJD1C, IPMK, WASHC2C, EBF3, CALHM1, CASC2, TCERG1L, HSPA12A, SGMS1, PGBD3, C10orf53, FUOM, JAKMIP3, STK32C, BLOC1S2, RBM20, FAM149B1, FFAR4, KCNK18, DUPD1, LIPM, CYP26C1, VWA2, NANOS1, LRIT2, HMX3, LRRTM3, NHLRC2, CCDC172, WASHC2A, SH2D4B, C10orf99, SLC16A12, CC2D2B, ENO4, ARMS2, TEX36, NKX1-2, C10orf120, EEF1AKMT2, FOXI2, GOLGA7B, FAM45A, MIR107, C10orf105, C10orf62, AGAP6, C10orf55, IFIT1B, FRG2B, MIR346, LRRC18, SPRN, MIR146B, NPS, AGAP9, INSYN2, FAM25A, TMEM72, LIPK, LIPN, FAM25E, FAM25C, DRGX, ANXA8, ASAH2B, SFTPA1, SNORA12, ANXA8L1, NUTM2A, AGAP10, AGAP5, SFTPA2, NUTM2B, TLX1NB, C10orf131, LOC100131132, FAM25G, ADIRF-AS1, KLLN, TIMM23, FAS-AS1, MTRNR2L5, TCERG1L-AS1, LINC01166, LOC101929662, LINC01520
PARP Inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria provided
2.
GRCh37:
Chr10:76586255
GRCh38:
Chr10:74826497
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr10:76586309
GRCh38:
Chr10:74826551
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr10:76586448-76586453
GRCh38:
Chr10:74826690-74826695
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr10:76586510
GRCh38:
Chr10:74826752
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr10:76598491
GRCh38:
Chr10:74838733
KAT6Bnot specifiedLikely benign
(Nov 9, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr10:76602371
GRCh38:
Chr10:74842613
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr10:76602724
GRCh38:
Chr10:74842966
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr10:76602734
GRCh38:
Chr10:74842976
KAT6Bnot providedUncertain significance
(Aug 7, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr10:76602872
GRCh38:
Chr10:74843114
KAT6Bnot providedPathogenic
(Aug 23, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr10:76602897
GRCh38:
Chr10:74843139
KAT6Bnot providedPathogenic
(Jul 30, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr10:76602922
GRCh38:
Chr10:74843164
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr10:76602970
GRCh38:
Chr10:74843212
KAT6Bnot providedUncertain significance
(Jan 25, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr10:76602980
GRCh38:
Chr10:74843222
KAT6Bnot specifiedUncertain significance
(Dec 16, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr10:76602990
GRCh38:
Chr10:74843232
KAT6Bnot provided, KAT6B-Related Spectrum DisordersBenign/Likely benign
(Nov 18, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:76603142
GRCh38:
Chr10:74843384
KAT6Bnot providednot providedno assertion provided
17.
GRCh37:
Chr10:76603482
GRCh38:
Chr10:74843724
KAT6Bnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr10:76719679
GRCh38:
Chr10:74959921
KAT6Bnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr10:76719805
GRCh38:
Chr10:74960047
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr10:76719814-76719815
GRCh38:
Chr10:74960056-74960057
KAT6Bnot providedPathogenic
(Jan 5, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr10:76720040
GRCh38:
Chr10:74960282
KAT6Bnot providedBenign
(Jun 19, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr10:76720081
GRCh38:
Chr10:74960323
KAT6Bnot providedBenign
(Jun 19, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr10:76729469
GRCh38:
Chr10:74969711
KAT6Bnot specifiedUncertain significance
(Oct 28, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr10:76729488
GRCh38:
Chr10:74969730
KAT6Bnot specifiedLikely benign
(Mar 1, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr10:76729526
GRCh38:
Chr10:74969768
KAT6Bnot providedUncertain significance
(Dec 2, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr10:76729527
GRCh38:
Chr10:74969769
KAT6Bnot specifiedLikely benign
(Feb 16, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr10:76729535
GRCh38:
Chr10:74969777
KAT6Bnot providedUncertain significance
(Aug 31, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr10:76729549
GRCh38:
Chr10:74969791
KAT6Bnot specifiedLikely benigncriteria provided, single submitter
29.
GRCh37:
Chr10:76729632
GRCh38:
Chr10:74969874
KAT6Bnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr10:76729789
GRCh38:
Chr10:74970031
KAT6Bnot specifiedLikely benigncriteria provided, single submitter
31.
GRCh37:
Chr10:76732033
GRCh38:
Chr10:74972275
KAT6Bnot providedBenign
(Jun 16, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr10:76732253
GRCh38:
Chr10:74972495
KAT6Bnot specified, KAT6B-Related Spectrum DisordersBenign
(Aug 1, 2017)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr10:76732269
GRCh38:
Chr10:74972511
KAT6Bnot providedUncertain significance
(Dec 13, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr10:76732347
GRCh38:
Chr10:74972589
KAT6Bnot specifiedLikely benign
(Oct 2, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr10:76732361
GRCh38:
Chr10:74972603
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr10:76735141
GRCh38:
Chr10:74975383
KAT6Bnot specifiedLikely benigncriteria provided, single submitter
37.
GRCh37:
Chr10:76735330
GRCh38:
Chr10:74975572
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr10:76735363
GRCh38:
Chr10:74975605
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr10:76735377
GRCh38:
Chr10:74975619
KAT6Bnot providedUncertain significance
(Mar 31, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr10:76735482
GRCh38:
Chr10:74975724
KAT6Bnot specifiedUncertain significance
(Oct 18, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr10:76735534
GRCh38:
Chr10:74975776
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr10:76735549
GRCh38:
Chr10:74975791
KAT6Bnot providedUncertain significance
(Jun 12, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr10:76735563
GRCh38:
Chr10:74975805
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr10:76735607
GRCh38:
Chr10:74975849
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr10:76735631
GRCh38:
Chr10:74975873
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr10:76735660
GRCh38:
Chr10:74975902
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr10:76735758
GRCh38:
Chr10:74976000
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr10:76735770
GRCh38:
Chr10:74976012
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr10:76735780
GRCh38:
Chr10:74976022
KAT6Bnot providedUncertain significance
(Jan 23, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr10:76735865-76735868
GRCh38:
Chr10:74976107-74976110
KAT6Bnot providedLikely pathogenic
(Aug 30, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr10:76735877
GRCh38:
Chr10:74976119
KAT6Bnot specifiedLikely benign
(Nov 9, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr10:76735893
GRCh38:
Chr10:74976135
KAT6Bnot specifiedLikely benigncriteria provided, single submitter
53.
GRCh37:
Chr10:76735982
GRCh38:
Chr10:74976224
KAT6Bnot specifiedLikely benigncriteria provided, single submitter
54.
GRCh37:
Chr10:76736022
GRCh38:
Chr10:74976264
KAT6BSeizures, Delayed speech and language development, Macrocephalus,
Joint laxity, Generalized joint laxity, KAT6B-Related Spectrum Disorders
Uncertain significance
(Jan 1, 2017)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:76737179
GRCh38:
Chr10:74977421
KAT6Bnot providedUncertain significance
(May 22, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr10:76741561
GRCh38:
Chr10:74981803
KAT6Bnot providedLikely benign
(Apr 18, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr10:76741695
GRCh38:
Chr10:74981937
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr10:76744828
GRCh38:
Chr10:74985070
KAT6Bnot specified, KAT6B-Related Spectrum DisordersLikely benign
(Apr 6, 2017)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:76744912
GRCh38:
Chr10:74985154
KAT6Bnot specified, not providedLikely benigncriteria provided, single submitter
60.
GRCh37:
Chr10:76744950
GRCh38:
Chr10:74985192
KAT6Bnot providedUncertain significanceno assertion criteria provided
61.
GRCh37:
Chr10:76748830
GRCh38:
Chr10:74989072
KAT6Bnot providedUncertain significance
(Aug 11, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr10:76748879
GRCh38:
Chr10:74989121
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr10:76780122
GRCh38:
Chr10:75020364
KAT6Bnot providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr10:76780543
GRCh38:
Chr10:75020785
KAT6Bnot providedUncertain significance
(Mar 20, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr10:76780598
GRCh38:
Chr10:75020840
KAT6Bnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr10:76780971
GRCh38:
Chr10:75021213
KAT6BIntellectual disabilityLikely benign
(Jan 1, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr10:76781040
GRCh38:
Chr10:75021282
KAT6BYoung Simpson syndrome, not providedPathogenic
(Nov 11, 2011)
no assertion criteria provided
68.
GRCh37:
Chr10:76781044
GRCh38:
Chr10:75021286
KAT6Bnot providedPathogenic
(Dec 16, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr10:76781650
GRCh38:
Chr10:75021892
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr10:76781735
GRCh38:
Chr10:75021977
KAT6Bnot providedPathogenic
(Jun 14, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr10:76781740
GRCh38:
Chr10:75021982
KAT6Bnot specifiedLikely benign
(Mar 1, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr10:76781764
GRCh38:
Chr10:75022006
KAT6Bnot providedPathogenic
(Sep 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr10:76781771-76781786
GRCh38:
Chr10:75022013-75022028
KAT6BCraniosynostosis 1, ArachnodactylyUncertain significanceno assertion criteria provided
74.
GRCh37:
Chr10:76781789
GRCh38:
Chr10:75022031
KAT6Bnot providedPathogenic
(May 1, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr10:76781833
GRCh38:
Chr10:75022075
KAT6BYoung Simpson syndromePathogenic
(May 9, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr10:76781848
GRCh38:
Chr10:75022090
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr10:76781848
GRCh38:
Chr10:75022090
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
78.
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 interpretations
79.
GRCh37:
Chr10:76781863
GRCh38:
Chr10:75022105
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr10:76781869-76781871
GRCh38:
Chr10:75022111-75022113
KAT6Bnot specifiedLikely benign
(Mar 7, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr10:76781869-76781880
GRCh38:
Chr10:75022111-75022122
KAT6BGenitopatellar syndrome, not specified, not provided
Benign
(Aug 1, 2017)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:76781870
GRCh38:
Chr10:75022112
KAT6Bnot providedPathogenic
(Apr 17, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr10:76781873
GRCh38:
Chr10:75022115
KAT6BYoung Simpson syndromeLikely pathogenic
(Aug 7, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr10:76781880
GRCh38:
Chr10:75022122
KAT6BInborn genetic diseasesPathogenic
(Feb 21, 2014)
criteria provided, single submitter
85.
GRCh37:
Chr10:76781903
GRCh38:
Chr10:75022145
KAT6Bnot providedPathogenic
(Mar 15, 2017)
criteria provided, single submitter
86.
GRCh37:
Chr10:76781904
GRCh38:
Chr10:75022146
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr10:76781906
GRCh38:
Chr10:75022148
KAT6BKAT6B-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr10:76781927-76781929
GRCh38:
Chr10:75022169-75022171
KAT6Bnot specifiedLikely benigncriteria provided, single submitter
89.
GRCh37:
Chr10:76781927-76781929
GRCh38:
Chr10:75022169-75022171
KAT6BGenitopatellar syndrome, not specified, KAT6B-Related Spectrum Disorders
Benign/Likely benign
(Mar 16, 2018)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr10:76781958
GRCh38:
Chr10:75022200
KAT6Bnot specifiedUncertain significance
(Dec 6, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr10:76781966
GRCh38:
Chr10:75022208
KAT6Bnot providedPathogenic
(Jun 28, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr10:76784742-76784745
GRCh38:
Chr10:75024984-75024987
KAT6BEpicanthus, Telecanthus, Blepharophimosis,
Renal hypoplasia, Abnormal facial shape, Bulbous nose,
Vesicoureteral reflux, Renal hypoplasia, Epicanthus,
Hypoplasia of the maxilla, TelecanthusIntellectual disability,
Poor speech, ...see more
Likely pathogenic
(Jan 1, 2017)
criteria provided, single submitter
93.
GRCh37:
Chr10:76784744
GRCh38:
Chr10:75024986
KAT6Bnot providedPathogenic
(Dec 13, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr10:76784747
GRCh38:
Chr10:75024989
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr10:76784808
GRCh38:
Chr10:75025050
KAT6BKAT6B-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr10:76784842-76784843
GRCh38:
Chr10:75025084-75025085
KAT6Bnot providedPathogenic
(Feb 27, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr10:76784887
GRCh38:
Chr10:75025129
KAT6BMental retardation, autosomal dominantLikely benignno assertion criteria provided
98.
GRCh37:
Chr10:76784923-76784924
GRCh38:
Chr10:75025166
KAT6BGenitopatellar syndromePathogenic
(Sep 1, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr10:76784992
GRCh38:
Chr10:75025234
KAT6Bnot specifiedBenign
(Mar 3, 2017)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:76785008
GRCh38:
Chr10:75025250
KAT6BYoung Simpson syndromePathogenic
(May 5, 2015)
criteria provided, single submitter
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