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Items: 1 to 100 of 109

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
KRT14Epidermolysis bullosa simplex, autosomal recessivePathogenic
(Nov 1, 1994)
no assertion criteria provided
2.
KRT14Naegeli-Franceschetti-Jadassohn syndromePathogenic
(Oct 1, 2006)
no assertion criteria provided
3.
KRT14Epidermolysis bullosa simplex, autosomal recessivePathogenic
(Sep 1, 2000)
no assertion criteria provided
4.
KRT14Epidermolysis bullosa simplex, autosomal recessivePathogenic
(Nov 1, 1996)
no assertion criteria provided
5.
KRT14Epidermolysis bullosa simplex, Cockayne-Touraine typePathogenic
(Nov 1, 1993)
no assertion criteria provided
6.
GRCh37:
Chr17:17711738-217748468
AANAT, ACACA, ASIC2, ACLY, ACOX1, ACTG1, AP2B1, ALDH3A1, ALDH3A2, ALDOC, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ATP5G1, 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, SHC1P2, 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, ATP5H, 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, PPY2P, PYY2, FSCN2, NOL11, DHRS7B, KRT23, TMEM98, POLDIP2, TBC1D29, 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, HN1, 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, C17orf62, 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, TCAM1P, EFCAB3, SLC47A2, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, SLFN5, NAGS, FAM134C, TMEM92, PHOSPHO1, RHBDL3, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, LYRM9, STRA13, LRRC45, SLC39A11, NOS2P2, TRIM65, UNC13D, RDM1, GAS2L2, STH, STXBP4, TBC1D28, TAC4, MYADML2, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXDC, C17orf58, MILR1, KANSL1, C17orf105, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, PTRF, SLC26A11, ENDOV, GDPD1, C17orf89, 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, HILS1, EFCAB5, LRRC37A3, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, CCL3P1, 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, NOS2P1, 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, C17orf96, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXDC-IT1, ARL17B, C17orf112, SLFN12L, KRTAP9-6, PTGES3L, PTGES3L-AARSD1, LOC101927666
Smith-Magenis syndromePathogenic
(Nov 12, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr17:39738797
GRCh38:
Chr17:41582545
KRT14not providedGO-ESP:0.17503(C)
GMAF:0.16250(C)
not providedno assertion provided
8.
GRCh37:
Chr17:39739497
GRCh38:
Chr17:41583245
KRT14Epidermolysis bullosa herpetiformis, Dowling-Meara, not providedPathogenic
(Apr 1, 2000)
no assertion criteria provided
9.
GRCh37:
Chr17:39739505
GRCh38:
Chr17:41583253
KRT14Epidermolysis bullosa herpetiformis, Dowling-Meara, not providedPathogenic
(Apr 1, 2000)
no assertion criteria provided
10.
GRCh37:
Chr17:39739509
GRCh38:
Chr17:41583257
KRT14not providednot providedno assertion provided
11.
GRCh37:
Chr17:39739511
GRCh38:
Chr17:41583259
KRT14not providedGMAF:0.00020(T)not providedno assertion provided
12.
GRCh37:
Chr17:39739512-39739521
GRCh38:
Chr17:41583260-41583269
KRT14not providednot providedno assertion provided
13.
GRCh37:
Chr17:39739514
GRCh38:
Chr17:41583262
KRT14not providednot providedno assertion provided
14.
GRCh37:
Chr17:39739515
GRCh38:
Chr17:41583263
KRT14not providednot providedno assertion provided
15.
GRCh37:
Chr17:39739517
GRCh38:
Chr17:41583265
KRT14not providednot providedno assertion provided
16.
GRCh37:
Chr17:39739518
GRCh38:
Chr17:41583266
KRT14Epidermolysis bullosa herpetiformis, Dowling-Meara, not providedPathogenic
(Apr 1, 2000)
no assertion criteria provided
17.
GRCh37:
Chr17:39739524
GRCh38:
Chr17:41583272
KRT14not providedGMAF:0.02780(T)not providedno assertion provided
18.
GRCh37:
Chr17:39739524
GRCh38:
Chr17:41583272
KRT14not providedGO-ESP:0.00723(T)
GMAF:0.02780(T)
not providedno assertion provided
19.
GRCh37:
Chr17:39739526
GRCh38:
Chr17:41583274
KRT14not providednot providedno assertion provided
20.
GRCh37:
Chr17:39739527
GRCh38:
Chr17:41583275
KRT14not providednot providedno assertion provided
21.
GRCh37:
Chr17:39739528-39739530
GRCh38:
Chr17:41583276-41583278
KRT14not providednot providedno assertion provided
22.
GRCh37:
Chr17:39739530
GRCh38:
Chr17:41583278
KRT14not providednot providedno assertion provided
23.
GRCh37:
Chr17:39739530
GRCh38:
Chr17:41583278
KRT14not providednot providedno assertion provided
24.
GRCh37:
Chr17:39739533
GRCh38:
Chr17:41583281
KRT14not providednot providedno assertion provided
25.
GRCh37:
Chr17:39739539
GRCh38:
Chr17:41583287
KRT14not providednot providedno assertion provided
26.
GRCh37:
Chr17:39739543
GRCh38:
Chr17:41583291
KRT14not providednot providedno assertion provided
27.
GRCh37:
Chr17:39739559
GRCh38:
Chr17:41583307
KRT14not providednot providedno assertion provided
28.
GRCh37:
Chr17:39739575
GRCh38:
Chr17:41583323
KRT14not providednot providedno assertion provided
29.
GRCh37:
Chr17:39739587
GRCh38:
Chr17:41583335
KRT14not providednot providedno assertion provided
30.
GRCh37:
Chr17:39739598
GRCh38:
Chr17:41583346
KRT14not providedGMAF:0.00000(T)not providedno assertion provided
31.
GRCh37:
Chr17:39739599
GRCh38:
Chr17:41583347
KRT14not providednot providedno assertion provided
32.
GRCh37:
Chr17:39739599
GRCh38:
Chr17:41583347
KRT14not providednot providedno assertion provided
33.
GRCh37:
Chr17:39739603-39739644
GRCh38:
Chr17:41583351-41583392
KRT14not providednot providedno assertion provided
34.
GRCh37:
Chr17:39739610
GRCh38:
Chr17:41583358
KRT14Epidermolysis bullosa simplex, Koebner type, not providedPathogenic
(Nov 22, 1991)
no assertion criteria provided
35.
GRCh37:
Chr17:39739620
GRCh38:
Chr17:41583368
KRT14not providednot providedno assertion provided
36.
GRCh37:
Chr17:39739631
GRCh38:
Chr17:41583379
KRT14not providednot providedno assertion provided
37.
GRCh37:
Chr17:39739631
GRCh38:
Chr17:41583379
KRT14not providednot providedno assertion provided
38.
GRCh37:
Chr17:39739636-39739638
GRCh38:
Chr17:41583384-41583386
KRT14not providednot providedno assertion provided
39.
GRCh37:
Chr17:39739901
GRCh38:
Chr17:41583649
KRT14not providednot providedno assertion provided
40.
GRCh37:
Chr17:39740011
GRCh38:
Chr17:41583759
KRT14not providednot providedno assertion provided
41.
GRCh37:
Chr17:39740011
GRCh38:
Chr17:41583759
KRT14not providednot providedno assertion provided
42.
GRCh37:
Chr17:39740024
GRCh38:
Chr17:41583772
KRT14not providednot providedno assertion provided
43.
GRCh37:
Chr17:39740118
GRCh38:
Chr17:41583866
KRT14not providednot providedno assertion provided
44.
GRCh37:
Chr17:39740121
GRCh38:
Chr17:41583869
KRT14not providednot providedno assertion provided
45.
GRCh37:
Chr17:39740124
GRCh38:
Chr17:41583872
KRT14not providednot providedno assertion provided
46.
GRCh37:
Chr17:39740124
GRCh38:
Chr17:41583872
KRT14Epidermolysis bullosa simplex, Koebner type, not providedPathogenic
(Jan 1, 1993)
no assertion criteria provided
47.
GRCh37:
Chr17:39740131
GRCh38:
Chr17:41583879
KRT14not providednot providedno assertion provided
48.
GRCh37:
Chr17:39740136
GRCh38:
Chr17:41583884
KRT14not providednot providedno assertion provided
49.
GRCh37:
Chr17:39740525
GRCh38:
Chr17:41584273
KRT14not providednot providedno assertion provided
50.
GRCh37:
Chr17:39740530
GRCh38:
Chr17:41584278
KRT14not providednot providedno assertion provided
51.
GRCh37:
Chr17:39740642
GRCh38:
Chr17:41584390
KRT14not providednot providedno assertion provided
52.
GRCh37:
Chr17:39740662
GRCh38:
Chr17:41584410
KRT14Epidermolysis bullosa simplex, autosomal recessive, not providedPathogenic
(Nov 1, 1994)
no assertion criteria provided
53.
GRCh37:
Chr17:39741279
GRCh38:
Chr17:41585027
KRT14not providednot providedno assertion provided
54.
GRCh37:
Chr17:39741301-39741306
GRCh38:
Chr17:41585049-41585054
KRT14not providednot providedno assertion provided
55.
GRCh37:
Chr17:39741307
GRCh38:
Chr17:41585055
KRT14not providednot providedno assertion provided
56.
GRCh37:
Chr17:39741311
GRCh38:
Chr17:41585059
KRT14not providednot providedno assertion provided
57.
GRCh37:
Chr17:39742645
GRCh38:
Chr17:41586393
KRT14not providednot providedno assertion provided
58.
GRCh37:
Chr17:39742656
GRCh38:
Chr17:41586404
KRT14Epidermolysis bullosa simplex, autosomal recessive, not providedPathogenic
(Apr 1, 1993)
no assertion criteria provided
59.
GRCh37:
Chr17:39742659
GRCh38:
Chr17:41586407
KRT14not providednot providedno assertion provided
60.
GRCh37:
Chr17:39742660
GRCh38:
Chr17:41586408
KRT14not providednot providedno assertion provided
61.
GRCh37:
Chr17:39742668
GRCh38:
Chr17:41586416
KRT14not providednot providedno assertion provided
62.
GRCh37:
Chr17:39742680
GRCh38:
Chr17:41586428
KRT14not providednot providedno assertion provided
63.
GRCh37:
Chr17:39742680
GRCh38:
Chr17:41586428
KRT14not providednot providedno assertion provided
64.
GRCh37:
Chr17:39742686
GRCh38:
Chr17:41586434
KRT14not providednot providedno assertion provided
65.
GRCh37:
Chr17:39742687
GRCh38:
Chr17:41586435
KRT14not providednot providedno assertion provided
66.
GRCh37:
Chr17:39742688
GRCh38:
Chr17:41586436
KRT14not providednot providedno assertion provided
67.
GRCh37:
Chr17:39742689
GRCh38:
Chr17:41586437
KRT14not providednot providedno assertion provided
68.
GRCh37:
Chr17:39742690
GRCh38:
Chr17:41586438
KRT14not providednot providedno assertion provided
69.
GRCh37:
Chr17:39742690
GRCh38:
Chr17:41586438
KRT14not providednot providedno assertion provided
70.
GRCh37:
Chr17:39742690
GRCh38:
Chr17:41586438
KRT14not providednot providedno assertion provided
71.
GRCh37:
Chr17:39742698
GRCh38:
Chr17:41586446
KRT14not providednot providedno assertion provided
72.
GRCh37:
Chr17:39742701
GRCh38:
Chr17:41586449
KRT14not providednot providedno assertion provided
73.
GRCh37:
Chr17:39742702
GRCh38:
Chr17:41586450
KRT14not providednot providedno assertion provided
74.
GRCh37:
Chr17:39742702-39742704
GRCh38:
Chr17:41586450-41586452
KRT14not providednot providedno assertion provided
75.
GRCh37:
Chr17:39742705
GRCh38:
Chr17:41586453
KRT14not providednot providedno assertion provided
76.
GRCh37:
Chr17:39742713
GRCh38:
Chr17:41586461
KRT14not providednot providedno assertion provided
77.
GRCh37:
Chr17:39742713
GRCh38:
Chr17:41586461
KRT14not providednot providedno assertion provided
78.
GRCh37:
Chr17:39742713
GRCh38:
Chr17:41586461
KRT14Epidermolysis bullosa herpetiformis, Dowling-Meara, not providedPathogenic
(Sep 1, 2011)
no assertion criteria provided
79.
GRCh37:
Chr17:39742714
GRCh38:
Chr17:41586462
KRT14not providednot providedno assertion provided
80.
GRCh37:
Chr17:39742714
GRCh38:
Chr17:41586462
KRT14Epidermolysis bullosa herpetiformis, Dowling-Meara, not providedPathogenic
(Sep 1, 2011)
no assertion criteria provided
81.
GRCh37:
Chr17:39742718
GRCh38:
Chr17:41586466
KRT14not providedGMAF:0.31950(A)not providedno assertion provided
82.
GRCh37:
Chr17:39742718
GRCh38:
Chr17:41586466
KRT14not providedGMAF:0.31950(A)not providedno assertion provided
83.
GRCh37:
Chr17:39742719
GRCh38:
Chr17:41586467
KRT14Epidermolysis bullosa herpetiformis, Dowling-Meara, not providedPathogenic
(Sep 1, 2011)
no assertion criteria provided
84.
GRCh37:
Chr17:39742723
GRCh38:
Chr17:41586471
KRT14not providednot providedno assertion provided
85.
GRCh37:
Chr17:39742728
GRCh38:
Chr17:41586476
KRT14not providednot providedno assertion provided
86.
GRCh37:
Chr17:39742728
GRCh38:
Chr17:41586476
KRT14not providednot providedno assertion provided
87.
GRCh37:
Chr17:39742730
GRCh38:
Chr17:41586478
KRT14Epidermolysis bullosa simplex, autosomal recessive, Epidermolysis bullosa simplex, Cockayne-Touraine type, not provided
Pathogenic
(Sep 1, 1997)
no assertion criteria provided
88.
GRCh37:
Chr17:39742731
GRCh38:
Chr17:41586479
KRT14Epidermolysis bullosa herpetiformis, Dowling-Meara, not providedPathogenic
(Sep 1, 2011)
no assertion criteria provided
89.
GRCh37:
Chr17:39742732
GRCh38:
Chr17:41586480
KRT14not providednot providedno assertion provided
90.
GRCh37:
Chr17:39742739
GRCh38:
Chr17:41586487
KRT14not providednot providedno assertion provided
91.
GRCh37:
Chr17:39742741
GRCh38:
Chr17:41586489
KRT14not providednot providedno assertion provided
92.
GRCh37:
Chr17:39742741
GRCh38:
Chr17:41586489
KRT14not providednot providedno assertion provided
93.
GRCh37:
Chr17:39742773-39742774
GRCh38:
Chr17:41586521-41586522
KRT14not providednot providedno assertion provided
94.
GRCh37:
Chr17:39742807
GRCh38:
Chr17:41586555
KRT14not providedGMAF:0.29070(T)not providedno assertion provided
95.
GRCh37:
Chr17:39742845
GRCh38:
Chr17:41586593
KRT14not providednot providedno assertion provided
96.
GRCh37:
Chr17:39742856
GRCh38:
Chr17:41586604
KRT14not providedGO-ESP:0.27799(A)
GMAF:0.15240(A)
not providedno assertion provided
97.
GRCh37:
Chr17:39742894
GRCh38:
Chr17:41586642
KRT14not providedGO-ESP:0.51791(A)
GMAF:0.31930(G)
not providedno assertion provided
98.
GRCh37:
Chr17:39742898
GRCh38:
Chr17:41586646
KRT14not providedGMAF:0.31930(G)not providedno assertion provided
99.
GRCh37:
Chr17:39742899
GRCh38:
Chr17:41586647
KRT14not providedGMAF:0.00740(C)not providedno assertion provided
100.
GRCh37:
Chr17:39742958
GRCh38:
Chr17:41586706
KRT14not providednot providedno assertion provided
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