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Items: 1 to 100 of 549

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:17711738-217748468
AANAT, ACACA, ASIC2, ACLY, ACOX1, ACTG1, AP2B1, ALDH3A1, ALDH3A2, ALDOC, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ATP5MC1, ATP6V0A1, BLMH, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD7, CD79B, CDC6, CDC27, CDK3, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CPD, CRHR1, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DRG2, DUSP3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, CCR10, UTS2R, GPS1, GRB2, GRB7, GRN, GRIN2C, H3F3B, HCRT, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, OMG, P4HB, PDE6G, PDK2, PECAM1, PEX12, PHB, PNMT, SEPT4, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RFNG, RPL19, RPL23A, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, SRSF1, SRSF2, SGCA, SGSH, SHMT1, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TRQ-TTG1-1, DNAJC7, TUBG1, UBTF, VTN, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, FOXN1, PPM1D, CNTNAP1, DGKE, CBX4, TCAP, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, SPAG9, SLC13A2, UNC119, MTMR4, SLC16A6, SLC16A5, SLC16A3, SYNGR2, HGS, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, PGS1, TBX4, NPEPPS, GOSR1, CCL4L2, GOSR2, NR1D1, TRAF4, AATK, KIAA0100, ULK2, TBKBP1, TMEM94, EIF4A3, PLEKHM1, MED24, LRRC37A, MRC2, HELZ, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, BAIAP2, ATP5PD, HOXB13, VAT1, APPBP2, FBXW10, P3H4, ST6GALNAC2, HEXIM1, SPAG5, IGF2BP1, GNA13, CCT6B, RAI1, GRAP, SEPT9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, CASC3, IKZF3, ZNF652, PPM1E, ARSG, EPN2, CEP131, SARM1, GPATCH8, GGA3, JMJD6, EXOC7, USP22, KCNH4, ABCA6, ABCA5, KCTD2, SUZ12, MMD, WBP2, CDC42EP4, FSCN2, NOL11, DHRS7B, KRT23, TMEM98, POLDIP2, TBC1D29P, TANC2, WSB1, NAT9, PITPNC1, ERAL1, NARF, AATF, OR4D1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, SAP30BP, PSMC3IP, SNX11, TBX21, NT5C, SOCS7, CDR2L, SOST, TVP23B, MRPS7, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, NLK, LUC7L3, HIGD1B, CDK12, KRT20, NLE1, SDK2, FNDC8, FAM20A, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLFN12, PNPO, KLHL11, SMG8, SLC47A1, TMEM100, RHOT1, RSAD1, COPRS, LRRC59, NPLOC4, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, CA10, ATXN7L3, CCDC47, PLXDC1, LYZL6, CBX8, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, TAOK1, BAHCC1, USP36, ARHGAP23, PHF12, RNF213, TNRC6C, PCTP, SCPEP1, SLC25A19, FKBP10, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, DNAI2, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, GID4, ASPSCR1, TMUB2, CARD14, DHX58, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, DRC3, TTC25, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, RNF135, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, RAB11FIP4, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, CBX2, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, PIGS, TTYH2, HSPB9, ORMDL3, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, EFCAB13, MRPL10, TBC1D16, AFMID, GJD3, KRT222, KRT40, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, EFCAB3, SLC47A2, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, LYRM9, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, GAS2L2, STH, STXBP4, TBC1D28, TAC4, MYADML2, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXD, C17orf58, MILR1, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, KLHL10, RAB37, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, C17orf51, MSL1, CD300E, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, ZACN, KRT26, PRAC2, EFCAB5, LRRC37A3, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, MYO18A, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR144, MIR152, MIR193A, MIR196A1, MIR21, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, ZNF286B, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXD-IT1, ARL17B, C17orf112, SLFN12L, KRTAP9-6, PTGES3L, PTGES3L-AARSD1, LOC101927666
Smith-Magenis syndromePathogenic
(Nov 12, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr17:44131767-44580136
LRRC37A, KANSL1, ARL17BGestational diabetes mellitus uncontrollednot providedno assertion provided
3.
GRCh37:
Chr17:44249096-44293020
KANSL1Premature ovarian failureBenign
(Jan 7, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr17:44102446-44102447
GRCh38:
Chr17:46025080-46025081
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr17:44102576
GRCh38:
Chr17:46025210
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr17:44102584
GRCh38:
Chr17:46025218
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr17:44102604
GRCh38:
Chr17:46025238
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr17:44102638
GRCh38:
Chr17:46025272
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr17:44102682-44102683
GRCh38:
Chr17:46025316-46025317
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr17:44102689
GRCh38:
Chr17:46025323
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr17:44102745-44102746
GRCh38:
Chr17:46025379-46025380
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr17:44102865
GRCh38:
Chr17:46025499
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:44102933
GRCh38:
Chr17:46025567
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr17:44102941
GRCh38:
Chr17:46025575
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr17:44103002
GRCh38:
Chr17:46025636
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr17:44103207
GRCh38:
Chr17:46025841
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr17:44103258
GRCh38:
Chr17:46025892
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr17:44103296
GRCh38:
Chr17:46025930
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr17:44103446-44103447
GRCh38:
Chr17:46026080-46026081
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr17:44103616
GRCh38:
Chr17:46026250
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr17:44103704
GRCh38:
Chr17:46026338
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr17:44103806
GRCh38:
Chr17:46026440
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr17:44103825
GRCh38:
Chr17:46026459
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr17:44103826
GRCh38:
Chr17:46026460
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr17:44103927-44103928
GRCh38:
Chr17:46026561-46026562
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr17:44104280
GRCh38:
Chr17:46026914
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr17:44104343
GRCh38:
Chr17:46026977
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr17:44104347
GRCh38:
Chr17:46026981
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr17:44104413-44104415
GRCh38:
Chr17:46027047-46027049
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr17:44104493
GRCh38:
Chr17:46027127
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr17:44104509
GRCh38:
Chr17:46027143
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr17:44104528
GRCh38:
Chr17:46027162
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr17:44104580-44104582
GRCh38:
Chr17:46027214-46027216
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr17:44104615
GRCh38:
Chr17:46027249
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr17:44104670
GRCh38:
Chr17:46027304
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr17:44104856
GRCh38:
Chr17:46027490
MAPT, KANSL1MAPT-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr17:44104898-44104900
GRCh38:
Chr17:46027532-46027534
MAPT, KANSL1MAPT-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr17:44104914
GRCh38:
Chr17:46027548
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr17:44104918
GRCh38:
Chr17:46027552
MAPT, KANSL1MAPT-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr17:44104972
GRCh38:
Chr17:46027606
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr17:44105107
GRCh38:
Chr17:46027741
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr17:44105302
GRCh38:
Chr17:46027936
MAPT, KANSL1MAPT-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr17:44105347
GRCh38:
Chr17:46027981
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr17:44105354
GRCh38:
Chr17:46027988
MAPT, KANSL1MAPT-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr17:44105385
GRCh38:
Chr17:46028019
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr17:44105395
GRCh38:
Chr17:46028029
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr17:44105409-44105411
GRCh38:
Chr17:46028043-46028045
MAPT, KANSL1MAPT-Related Spectrum DisordersUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr17:44105691
GRCh38:
Chr17:46028325
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr17:44107291
GRCh38:
Chr17:46029925
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr17:44107322
GRCh38:
Chr17:46029956
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr17:44107322
GRCh38:
Chr17:46029956
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr17:44107408
GRCh38:
Chr17:46030042
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr17:44107409
GRCh38:
Chr17:46030043
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr17:44107488
GRCh38:
Chr17:46030122
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr17:44107488
GRCh38:
Chr17:46030122
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr17:44107492
GRCh38:
Chr17:46030126
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr17:44107514
GRCh38:
Chr17:46030148
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr17:44107536
GRCh38:
Chr17:46030170
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr17:44107555
GRCh38:
Chr17:46030189
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr17:44107607-44107608
GRCh38:
Chr17:46030241-46030242
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr17:44107607
GRCh38:
Chr17:46030241
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr17:44107646
GRCh38:
Chr17:46030280
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr17:44107739
GRCh38:
Chr17:46030373
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr17:44107814
GRCh38:
Chr17:46030448
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr17:44107815
GRCh38:
Chr17:46030449
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr17:44107820
GRCh38:
Chr17:46030454
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr17:44107888
GRCh38:
Chr17:46030522
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr17:44107957
GRCh38:
Chr17:46030591
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr17:44108026
GRCh38:
Chr17:46030660
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr17:44108100
GRCh38:
Chr17:46030734
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr17:44108202
GRCh38:
Chr17:46030836
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr17:44108205
GRCh38:
Chr17:46030839
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr17:44108216
GRCh38:
Chr17:46030850
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr17:44108234
GRCh38:
Chr17:46030868
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr17:44108355
GRCh38:
Chr17:46030989
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr17:44108454
GRCh38:
Chr17:46031088
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr17:44108482-44108483
GRCh38:
Chr17:46031116-46031117
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr17:44108625
GRCh38:
Chr17:46031259
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr17:44108805-44108808
GRCh38:
Chr17:46031439-46031442
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersLikely benign
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr17:44108807-44108810
GRCh38:
Chr17:46031441-46031444
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr17:44108839
GRCh38:
Chr17:46031473
KANSL1not specifiedLikely benign
(Jan 12, 2017)
criteria provided, single submitter
82.
GRCh37:
Chr17:44108840
GRCh38:
Chr17:46031474
KANSL1not specifiedLikely benign
(Dec 2, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr17:44108847-44108848
GRCh38:
Chr17:46031481-46031482
KANSL1not specifiedUncertain significance
(Mar 1, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr17:44108854
GRCh38:
Chr17:46031488
KANSL1not specifiedLikely benign
(Feb 5, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr17:44108855
GRCh38:
Chr17:46031489
KANSL1not specifiedLikely benign
(Aug 24, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr17:44108862
GRCh38:
Chr17:46031496
KANSL1not specifiedUncertain significance
(Jul 28, 2014)
criteria provided, single submitter
87.
GRCh37:
Chr17:44108881
GRCh38:
Chr17:46031515
KANSL1Koolen-de Vries syndromeLikely benign
(Dec 22, 2017)
criteria provided, single submitter
88.
GRCh37:
Chr17:44108888
GRCh38:
Chr17:46031522
KANSL1Koolen-de Vries syndromeUncertain significance
(Dec 8, 2017)
criteria provided, single submitter
89.
GRCh37:
Chr17:44108894
GRCh38:
Chr17:46031528
KANSL1Koolen-de Vries syndromeUncertain significance
(Nov 19, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr17:44108896
GRCh38:
Chr17:46031530
KANSL1not specifiedLikely benign
(Nov 17, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr17:44108900
GRCh38:
Chr17:46031534
KANSL1not specifiedLikely benign
(Jun 30, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr17:44108906
GRCh38:
Chr17:46031540
MAPT, KANSL1Syndromic intellectual disability, MAPT-Related Spectrum DisordersBenign
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr17:44108924
GRCh38:
Chr17:46031558
KANSL1not specifiedLikely benign
(Aug 30, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr17:44108939
GRCh38:
Chr17:46031573
KANSL1not specifiedLikely benign
(Feb 5, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr17:44108945
GRCh38:
Chr17:46031579
KANSL1not specifiedLikely benign
(Oct 28, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr17:44108964
GRCh38:
Chr17:46031598
KANSL1not specifiedLikely benign
(Jan 9, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr17:44108975
GRCh38:
Chr17:46031609
KANSL1not specifiedLikely benign
(Aug 10, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr17:44108990
GRCh38:
Chr17:46031624
KANSL1Koolen-de Vries syndrome, not specifiedLikely benign
(Jan 3, 2018)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr17:44109002
GRCh38:
Chr17:46031636
KANSL1not specifiedLikely benign
(Oct 19, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr17:44109012
GRCh38:
Chr17:46031646
KANSL1not specifiedLikely benign
(Oct 13, 2014)
criteria provided, single submitter
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