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Items: 90

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Mar 1, 2008)
no assertion criteria provided
2.
GRCh37:
Chr17:7975971
GRCh38:
Chr17:8072653
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr17:7975988
GRCh38:
Chr17:8072670
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr17:7976023
GRCh38:
Chr17:8072705
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr17:7976159
GRCh38:
Chr17:8072841
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Oct 1, 2005)
no assertion criteria provided
6.
GRCh37:
Chr17:7976457
GRCh38:
Chr17:8073139
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr17:7976462
GRCh38:
Chr17:8073144
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr17:7976485
GRCh38:
Chr17:8073167
ALOX12Bnot specifiedUncertain significance
(Aug 25, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr17:7976533
GRCh38:
Chr17:8073215
ALOX12Bnot specifiedUncertain significance
(Jun 26, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr17:7976533
GRCh38:
Chr17:8073215
ALOX12BIchthyosisPathogenic
(Jun 22, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr17:7976538
GRCh38:
Chr17:8073220
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr17:7976602
GRCh38:
Chr17:8073284
ALOX12Bnot providedLikely pathogenic
(May 11, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:7976645
GRCh38:
Chr17:8073327
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr17:7976996
GRCh38:
Chr17:8073678
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Jan 1, 2002)
no assertion criteria provided
15.
GRCh37:
Chr17:7977084
GRCh38:
Chr17:8073766
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr17:7978925
GRCh38:
Chr17:8075607
ALOX12BAutosomal recessive congenital ichthyosis 2, not providedPathogenic
(May 15, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr17:7978975
GRCh38:
Chr17:8075657
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr17:7978988
GRCh38:
Chr17:8075670
ALOX12BAutosomal recessive congenital ichthyosis 2, not providedLikely pathogenic
(May 13, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:7978997
GRCh38:
Chr17:8075679
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr17:7979002
GRCh38:
Chr17:8075684
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr17:7979005
GRCh38:
Chr17:8075687
ALOX12BAutosomal recessive congenital ichthyosis 2, Ichthyosis, not provided,
Congenital ichthyosiform erythroderma
Pathogenic
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr17:7979026
GRCh38:
Chr17:8075708
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr17:7979478
GRCh38:
Chr17:8076160
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr17:7979527
GRCh38:
Chr17:8076209
ALOX12Bnot specifiedUncertain significance
(Jan 26, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr17:7979612
GRCh38:
Chr17:8076294
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr17:7979631
GRCh38:
Chr17:8076313
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr17:7979638
GRCh38:
Chr17:8076320
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Jan 1, 2002)
no assertion criteria provided
28.
GRCh37:
Chr17:7980043
GRCh38:
Chr17:8076725
ALOX12BAutosomal recessive congenital ichthyosis 2, Congenital ichthyosiform erythrodermaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr17:7980060
GRCh38:
Chr17:8076742
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Jan 1, 2002)
no assertion criteria provided
30.
GRCh37:
Chr17:7980074
GRCh38:
Chr17:8076756
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr17:7980376
GRCh38:
Chr17:8077058
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Mar 1, 2008)
no assertion criteria provided
32.
GRCh37:
Chr17:7980403
GRCh38:
Chr17:8077085
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Apr 1, 2007)
no assertion criteria provided
33.
GRCh37:
Chr17:7980404
GRCh38:
Chr17:8077086
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr17:7980420
GRCh38:
Chr17:8077102
ALOX12Bnot specifiedUncertain significance
(May 25, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr17:7980427
GRCh38:
Chr17:8077109
ALOX12Bnot providedLikely pathogenic
(Oct 28, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr17:7982735
GRCh38:
Chr17:8079417
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr17:7982745
GRCh38:
Chr17:8079427
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr17:7982781
GRCh38:
Chr17:8079463
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr17:7983223
GRCh38:
Chr17:8079905
ALOX12Bnot specifiedUncertain significance
(Jun 26, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr17:7983592
GRCh38:
Chr17:8080274
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr17:7983634
GRCh38:
Chr17:8080316
ALOX12Bnot specifiedUncertain significance
(Feb 27, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr17:7983969
GRCh38:
Chr17:8080651
ALOX12Bnot specified, Congenital ichthyosiform erythrodermaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:7984059
GRCh38:
Chr17:8080741
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr17:7984065
GRCh38:
Chr17:8080747
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr17:7984096
GRCh38:
Chr17:8080778
ALOX12Bnot providedPathogenic
(Nov 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr17:7984106
GRCh38:
Chr17:8080788
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr17:7984200
GRCh38:
Chr17:8080882
ALOX12BAutosomal recessive congenital ichthyosis 2Likely pathogenic
(Jun 18, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr17:7984203
GRCh38:
Chr17:8080885
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr17:7984448
GRCh38:
Chr17:8081130
ALOX12BAutosomal recessive congenital ichthyosis 2, not specifiedConflicting interpretations of pathogenicity
(Jan 26, 2017)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr17:7984461
GRCh38:
Chr17:8081143
ALOX12Bnot providedLikely pathogenic
(May 18, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr17:7984479
GRCh38:
Chr17:8081161
ALOX12Bnot specifiedLikely benign
(Mar 28, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr17:7984507
GRCh38:
Chr17:8081189
ALOX12BAutosomal recessive congenital ichthyosis 2Likely pathogenic
(Jun 18, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr17:7989346
GRCh38:
Chr17:8086028
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Oct 1, 2005)
no assertion criteria provided
54.
GRCh37:
Chr17:7989362
GRCh38:
Chr17:8086044
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr17:7989385
GRCh38:
Chr17:8086067
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr17:7989394
GRCh38:
Chr17:8086076
ALOX12Bnot providedLikely pathogenic
(Aug 23, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr17:7989406
GRCh38:
Chr17:8086088
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr17:7989434
GRCh38:
Chr17:8086116
ALOX12Bnot providedPathogenic
(Dec 10, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr17:7989444
GRCh38:
Chr17:8086126
ALOX12Bnot providedPathogenic
(May 25, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr17:7989464
GRCh38:
Chr17:8086146
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr17:7989487
GRCh38:
Chr17:8086169
ALOX12BAutosomal recessive congenital ichthyosis 2Pathogenic
(Feb 1, 2010)
no assertion criteria provided
62.
GRCh37:
Chr17:7989520
GRCh38:
Chr17:8086202
ALOX12Bnot providedLikely pathogenic
(Aug 23, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr17:7989523
GRCh38:
Chr17:8086205
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr17:7990617
GRCh38:
Chr17:8087299
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr17:7990626
GRCh38:
Chr17:8087308
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr17:7990713
GRCh38:
Chr17:8087395
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr17:7990713-7990715
GRCh38:
Chr17:8087395-8087397
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr17:7990719
GRCh38:
Chr17:8087401
ALOX12BCongenital ichthyosiform erythrodermaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr17:7990722
GRCh38:
Chr17:8087404
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr17:7990808
GRCh38:
Chr17:8087490
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr17:7990870
GRCh38:
Chr17:8087552
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr17:7990915
GRCh38:
Chr17:8087597
ALOX12BCongenital ichthyosiform erythrodermaBenign
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr17:7990917
GRCh38:
Chr17:8087599
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr17:7990918
GRCh38:
Chr17:8087600
ALOX12BCongenital ichthyosiform erythrodermaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr17:7990959
GRCh38:
Chr17:8087641
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr17:7990961
GRCh38:
Chr17:8087643
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr17:7990972
GRCh38:
Chr17:8087654
ALOX12BCongenital ichthyosiform erythrodermaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr17:7572921-8285634
GRCh38:
Chr17:7669603-8382316
Diamond-Blackfan anemiaPathogenic
(May 11, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr17:525-15027737
ABR, ACADVL, ALOX12, ALOX12B, ALOX15, ALOX15B, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, C1QBP, CD68, CHD3, CHRNB1, CHRNE, COX10, CLDN7, CRK, CTNS, DLG4, DNAH9, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, FGF11, GP1BA, GPS2, GUCY2D, HIC1, ITGAE, MNT, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PER1, PFAS, PFN1, PITPNA, PLD2, SERPINF2, POLR2A, PSMB6, RCVRN, RPA1, RPL26, SCO1, MAP2K4, SHBG, SLC2A4, SOX15, VAMP2, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, UBE2G1, TRPV1, YWHAE, ZNF18, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, SLC25A11, DOC2B, GAS7, SCARF1, TNK1, MYH13, TNFSF13, TNFSF12, TM4SF5, USP6, RABEP1, KCNAB3, AURKB, GLP2R, NTN1, STX8, RPH3AL, FXR2, MPDU1, SPAG7, ACAP1, KIAA0753, SGSM2, ARHGAP44, HS3ST3B1, HS3ST3A1, CLEC10A, MYBBP1A, PRPF8, KIF1C, GABARAP, NLRP1, ARHGEF15, RAP1GAP2, CAMTA2, KDM6B, ZZEF1, CLUH, SMG6, WSCD1, CTDNEP1, PIK3R5, ELP5, SHPK, AIPL1, RNF167, SENP3, OR1A2, PELP1, RANGRF, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, YBX2, ANKFY1, INPP5K, PIMREG, XAF1, BORCS6, SLC52A1, WRAP53, MRM3, VPS53, NCBP3, TSR1, DHX33, ADPRM, PLSCR3, NLGN2, ZBTB4, CXCL16, TRAPPC1, ALOXE3, ELAC2, SRR, NXN, MIS12, METTL16, PHF23, FAM57A, CTC1, NDEL1, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, TMEM107, NAA38, NEURL4, ZNF594, HES7, SPATA22, TXNDC17, TMEM88, MYOCD, SAT2, SMYD4, CNTROB, CYB5D1, OVCA2, USP43, KRBA2, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, WDR81, DNAH2, RTN4RL1, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, KCTD11, MFSD6L, TRPV3, SLC16A11, FBXO39, DHRS7C, SLC16A13, SPEM2, SPNS3, TMEM256, BCL6B, VMO1, SLC13A5, TMEM102, TRARG1, TMEM95, SMTNL2, RFLNB, SPEM1, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, SLC25A35, C17orf97, MED11, MIR132, MIR195, MIR212, MIR22, TNFSF12-TNFSF13, RNASEK, SLC35G6, RNF222, PIRT, BHLHA9, TLCD2, C17orf107, LOC100288728, MIR497HG
See casesPathogenic
(Nov 12, 2013)
no assertion criteria provided
80.
GRCh37:
Chr17:7431013-9868179
See casesUncertain significance
(Oct 22, 2014)
no assertion criteria provided
81.
GRCh37:
Chr17:526-81041938
AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3F3B, HCRT, HIC1, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, 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, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, PFN1, PHB, PITPNA, PLD2, SERPINF2, PMP22, PNMT, SEPT4, POLR2A, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RCVRN, RFNG, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, TRPV1, VTN, WNT3, WNT9B, YWHAE, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPT9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, FAM57A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, TTC25, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, 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, TMEM88, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, SLC16A13, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXDC, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, C17orf51, MSL1, CD300E, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, ZNF286B, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXDC-IT1, ARL17B, C17orf112, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, LOC101927666
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
82.
GRCh37:
Chr17:526-81041938
AANAT, ABR, ACACA, ACADVL, ASIC2, ACLY, ACOX1, ACTG1, ADORA2B, AP2B1, ALDH3A1, ALDH3A2, ALDOC, ALOX12, ALOX12B, ALOX15, ALOX15B, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, ATP5MC1, ATP6V0A1, BLMH, BRCA1, C1QBP, FMNL1, CA4, CACNB1, CACNG1, CD7, CD68, CD79B, CDC6, CDC27, CDK3, CHAD, CHD3, CHRNB1, CHRNE, CLTC, CCR7, CNP, COL1A1, COX10, COX11, CPD, CLDN7, CRHR1, CRK, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CTNS, CYB561, ACE, DDX5, DHX8, DLG4, DLX3, DLX4, DNAH9, DPH1, DRG2, DUSP3, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FGF11, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, GP1BA, CCR10, UTS2R, GPS1, GPS2, GRB2, GRB7, GRN, GRIN2C, GUCY2D, H3F3B, HCRT, HIC1, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGAE, 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, MNT, MPO, MPP2, MPP3, TRIM37, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYL4, MYO1C, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, NUP88, OMG, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, P4HB, PAFAH1B1, PDE6G, PDK2, PECAM1, SERPINF1, PER1, PEX12, PFAS, PFN1, PHB, PITPNA, PLD2, SERPINF2, PMP22, PNMT, SEPT4, POLR2A, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PSMB6, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RCVRN, RFNG, RPA1, RPL19, RPL23A, RPL26, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, SCO1, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, MAP2K4, SRSF1, SRSF2, SGCA, SGSH, SHBG, SHMT1, SLC2A4, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SOX15, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, VAMP2, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRQ-TTG1-1, TRR-TCT2-1, DNAJC7, TUBG1, UBB, UBE2G1, UBTF, TRPV1, VTN, WNT3, WNT9B, YWHAE, ZNF18, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, ZNF232, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, OR1A1, OR1D5, OR1E1, OR1E2, OR1G1, OR3A3, PIP4K2B, SLC25A11, SPOP, DOC2B, FOXN1, PPM1D, CNTNAP1, GAS7, DGKE, COPS3, CBX4, TCAP, SCARF1, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, TNK1, ABCC3, MYH13, TNFSF13, TNFSF12, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, TM4SF5, SPAG9, SLC13A2, UNC119, USP6, MTMR4, SLC16A6, SLC16A5, SLC16A3, RABEP1, SYNGR2, HGS, KCNAB3, AURKB, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, GLP2R, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, NTN1, STX8, PIGL, PGS1, TBX4, RPH3AL, FXR2, NPEPPS, MPDU1, GOSR1, SPAG7, CCL4L2, GOSR2, NR1D1, NCOR1, TRAF4, AATK, KIAA0100, ULK2, CCDC144A, ACAP1, TBKBP1, TMEM94, EIF4A3, PLEKHM1, KIAA0753, MED24, LRRC37A, MRC2, SGSM2, ARHGAP44, HELZ, HS3ST3B1, HS3ST3A1, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, PEMT, BAIAP2, CLEC10A, ATP5PD, HOXB13, VAT1, APPBP2, MYBBP1A, FBXW10, PRPF8, P3H4, ST6GALNAC2, HEXIM1, SPAG5, TRIM16, IGF2BP1, GNA13, CCT6B, RAI1, KIF1C, GRAP, SEPT9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, GABARAP, CASC3, IKZF3, ZNF652, PPM1E, NLRP1, ARHGEF15, ARSG, EPN2, CEP131, SARM1, RAP1GAP2, CAMTA2, GPATCH8, KDM6B, ZZEF1, GGA3, MPRIP, JMJD6, EXOC7, CLUH, SMG6, WSCD1, USP22, CTDNEP1, KCNH4, ABCA6, ABCA5, TNFRSF13B, KCTD2, SUZ12, MMD, PIK3R5, WBP2, CDC42EP4, ELP5, SHPK, AIPL1, FSCN2, NOL11, DHRS7B, KRT23, RNF167, TMEM98, POLDIP2, TBC1D29, TANC2, WSB1, NAT9, SENP3, OR1A2, PITPNC1, ERAL1, NARF, AATF, OR4D1, PELP1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, RANGRF, SAP30BP, PSMC3IP, SNX11, TIMM22, TBX21, NT5C, SOCS7, CDR2L, TAX1BP3, MINK1, GEMIN4, SOST, MED31, DERL2, TVP23B, GLOD4, MRPS7, YBX2, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, TRPV2, ANKFY1, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, RASD1, NLK, LUC7L3, HIGD1B, CDK12, INPP5K, KRT20, NLE1, PIMREG, SDK2, XAF1, FNDC8, FAM20A, BORCS6, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, TTC19, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLC52A1, MED9, SLFN12, WRAP53, PNPO, KLHL11, MRM3, SMG8, SLC47A1, TMEM100, VPS53, RHOT1, RSAD1, COPRS, LRRC59, NCBP3, NPLOC4, TSR1, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, DHX33, CA10, NT5M, ATXN7L3, ADPRM, CCDC47, PLSCR3, PLXDC1, LYZL6, CBX8, ZNF286A, ZNF287, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, ZNF624, TAOK1, NLGN2, BAHCC1, USP36, ARHGAP23, PHF12, ZBTB4, RNF213, TNRC6C, CXCL16, TRAPPC1, PCTP, SCPEP1, ALOXE3, SLC25A19, ELAC2, FKBP10, SRR, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, NXN, DNAI2, TEKT3, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, MIS12, GID4, ASPSCR1, METTL16, TMUB2, CARD14, DHX58, PHF23, MMP28, DHRS11, MFSD11, PRR15L, CYBC1, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, FAM57A, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, CTC1, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, NDEL1, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, PITPNM3, DRC3, EMC6, TTC25, RILP, TEKT1, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, HASPIN, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, ZMYND15, CAMKK1, RPAIN, RNF135, MIEN1, MRPL45, VPS25, TMEM107, NAA38, TMEM101, PRAC1, RAB11FIP4, NEURL4, GHDC, KRTAP4-4, ZNF594, KIF2B, HES7, USP32, PPP1R9B, SPATA22, CBX2, TXNDC17, 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, TMEM88, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, MYOCD, PIGS, TTYH2, HSPB9, ORMDL3, SAT2, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, SMYD4, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, CNTROB, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, CYB5D1, OVCA2, USP43, KRBA2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, EFCAB13, MRPL10, WDR81, TBC1D16, AFMID, GJD3, KRT222, KRT40, ZSWIM7, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, DNAH2, RTN4RL1, EFCAB3, SLC47A2, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, KCTD11, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, MFSD6L, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, TRPV3, SLC16A11, FBXO39, SPPL2C, KRT28, KRT24, CEP112, DHRS7C, TVP23C, CENPV, FLCN, PLD6, ARHGAP27, ZNF385C, SAMD14, LYRM9, SLC16A13, SPEM2, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, SPNS3, GAS2L2, STH, STXBP4, TBC1D28, TMEM256, TAC4, MYADML2, BCL6B, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXDC, VMO1, C17orf58, MILR1, CDRT4, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, SLC13A5, TMEM102, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, TRARG1, KLHL10, RAB37, TMEM95, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, C17orf51, MSL1, CD300E, SMTNL2, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, TBC1D26, ZACN, KRT26, RFLNB, PRAC2, CDRT1, SPEM1, EFCAB5, LRRC37A3, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, LRRC75A, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, SLC25A35, MYO18A, C17orf97, MED11, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR132, MIR144, MIR152, MIR193A, MIR195, MIR196A1, MIR21, MIR212, MIR22, TNFSF12-TNFSF13, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, RNASEK, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, SLC35G6, RNF222, PIRT, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, BHLHA9, TLCD2, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, ZNF286B, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, C17orf107, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, LOC100288728, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXDC-IT1, ARL17B, C17orf112, SLFN12L, MIR497HG, KRTAP9-6, TVP23C-CDRT4, PTGES3L, PTGES3L-AARSD1, LOC101927666
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
83.
GRCh37:
Chr17:7966164-8338622
See casesUncertain significanceno assertion criteria provided
84.
GRCh37:
Chr17:7241916-8692213
See casesPathogenicno assertion criteria provided
85.
GRCh37:
Chr17:7929776-9995862
See casesUncertain significanceno assertion criteria provided
86.
GRCh37:
Chr17:525-14667519
GRCh38:
Chr17:150732-14764202
ABR, ACADVL, ALOX12, ALOX12B, ALOX15, ALOX15B, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, C1QBP, CD68, CHD3, CHRNB1, CHRNE, COX10, CLDN7, CRK, CTNS, DLG4, DNAH9, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, FGF11, GP1BA, GPS2, GUCY2D, HIC1, ITGAE, MNT, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PER1, PFAS, PFN1, PITPNA, PLD2, SERPINF2, POLR2A, PSMB6, RCVRN, RPA1, RPL26, SCO1, MAP2K4, SHBG, SLC2A4, SOX15, VAMP2, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, UBE2G1, TRPV1, YWHAE, ZNF18, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1E3, OR1G1, OR3A3, SLC25A11, DOC2B, GAS7, SCARF1, TNK1, MYH13, TNFSF13, TNFSF12, TM4SF5, USP6, RABEP1, KCNAB3, AURKB, GLP2R, NTN1, STX8, RPH3AL, FXR2, MPDU1, SPAG7, ACAP1, KIAA0753, SGSM2, ARHGAP44, HS3ST3B1, HS3ST3A1, CLEC10A, MYBBP1A, PRPF8, KIF1C, GABARAP, NLRP1, ARHGEF15, RAP1GAP2, CAMTA2, KDM6B, ZZEF1, CLUH, SMG6, WSCD1, CTDNEP1, PIK3R5, ELP5, SHPK, AIPL1, RNF167, SENP3, OR1A2, SNORA67, PELP1, RANGRF, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, YBX2, ANKFY1, INPP5K, PIMREG, XAF1, BORCS6, SLC52A1, WRAP53, MRM3, VPS53, NCBP3, TSR1, DHX33, ADPRM, PLSCR3, NLGN2, ZBTB4, CXCL16, TRAPPC1, ALOXE3, ELAC2, SRR, NXN, MIS12, METTL16, PHF23, FAM57A, CTC1, NDEL1, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, TMEM107, NAA38, NEURL4, ZNF594, HES7, SPATA22, MGC12916, TXNDC17, MIR22HG, TMEM88, MYOCD, SAT2, SMYD4, CNTROB, CYB5D1, OVCA2, USP43, KRBA2, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, WDR81, DNAH2, RTN4RL1, CDRT15, CFAP52, CCDC42, PIK3R6, ODF4, KCTD11, MFSD6L, TRPV3, SLC16A11, FBXO39, DHRS7C, SLC16A13, SPEM2, SPNS3, TMEM256, BCL6B, LOC284009, VMO1, RNF227, LINC00324, LINC00670, SLC13A5, TMEM102, TRARG1, LOC339166, TMEM95, SMTNL2, RFLNB, SPEM1, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, SLC25A35, C17orf97, LINC01996, MED11, MIR132, MIR195, MIR212, MIR22, TNFSF12-TNFSF13, RNASEK, MIR324, MIR497, SLC35G6, RNF222, GSG1L2, PIRT, SNORA48, SNORD10, OR1D4, SCARNA21, SNORD91A, SNORD91B, SNORD118, BHLHA9, TLCD2, LOC728392, MIR744, LOC100128006, LOC100128288, MYHAS, C17orf107, LOC100130950, TRS-CGA1-1, TRW-CCA3-3, TRW-CCA1-1, TRP-CGG1-3, TRS-AGA2-6, TRT-AGT1-1, TRG-TCC3-1, TRT-AGT1-2, TRS-GCT4-3, TRD-GTC2-11, TRI-AAT5-5, TRI-AAT4-1, TRT-AGT5-1, LOC100288728, TMEM238L, MIR1253, MIR548H3, PITPNA-AS1, MIR3183, MIR4314, LINC02091, LOC100506388, ALOX12-AS1, MIR497HG, RNASEK-C17orf49, TMEM256-PLSCR3, SENP3-EIF4A1, P2RX5-TAX1BP3, MIR4520-1, MIR4521, MIR4520-2, MIR1269B, COX10-AS1, LOC100996842, TMEM220-AS1, LOC101559451, LOC101927727, LOC101927839, LOC101927911, LOC101928000, LOC101928266, LOC101928418, CCDC92B, MIR6776, MIR6864, MIR6865, MIR6883, LOC102724009, LOC105371430, LOC105371485, LINC01975, LOC105371506, LINC02093, LOC105371592, LOC105943586, LOC106794092, LOC106799838, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC110121380, LOC111413025, LOC111556120, LOC111828490
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
87.
GRCh37:
Chr17:7871030-8393597
GRCh38:
Chr17:7967712-8490279
See casesUncertain significance
(Sep 27, 2013)
no assertion criteria provided
88.
GRCh37:
Chr17:45835-12247218
GRCh38:
Chr17:162016-12343901
ABR, ACADVL, ALOX12, ALOX12B, ALOX15, ALOX15B, ARRB2, ASGR1, ASGR2, ASPA, ATP1B2, ATP2A3, C1QBP, CD68, CHD3, CHRNB1, CHRNE, CLDN7, CRK, CTNS, DLG4, DNAH9, DPH1, DVL2, EFNB3, EIF4A1, EIF5A, ENO3, FGF11, GP1BA, GPS2, GUCY2D, HIC1, ITGAE, MNT, MYH1, MYH2, MYH3, MYH4, MYH8, MYH10, MYO1C, NUP88, OR1D2, OR3A1, OR3A2, P2RX1, P2RX5, PAFAH1B1, SERPINF1, PER1, PFAS, PFN1, PITPNA, PLD2, SERPINF2, POLR2A, PSMB6, RCVRN, RPA1, RPL26, SCO1, MAP2K4, SHBG, SLC2A4, SOX15, VAMP2, TP53, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, UBE2G1, TRPV1, YWHAE, ZNF18, ZNF232, OR1A1, OR1D5, OR1E1, OR1E2, OR1E3, OR1G1, OR3A3, SLC25A11, DOC2B, GAS7, SCARF1, TNK1, MYH13, TNFSF13, TNFSF12, TM4SF5, USP6, RABEP1, KCNAB3, AURKB, GLP2R, NTN1, STX8, RPH3AL, FXR2, MPDU1, SPAG7, ACAP1, KIAA0753, SGSM2, CLEC10A, MYBBP1A, PRPF8, KIF1C, GABARAP, NLRP1, ARHGEF15, RAP1GAP2, CAMTA2, KDM6B, ZZEF1, CLUH, SMG6, WSCD1, CTDNEP1, PIK3R5, ELP5, SHPK, AIPL1, RNF167, SENP3, OR1A2, SNORA67, PELP1, RANGRF, TIMM22, TAX1BP3, MINK1, GEMIN4, MED31, DERL2, GLOD4, YBX2, ANKFY1, INPP5K, PIMREG, XAF1, BORCS6, SLC52A1, WRAP53, MRM3, VPS53, NCBP3, TSR1, DHX33, ADPRM, PLSCR3, NLGN2, ZBTB4, CXCL16, TRAPPC1, ALOXE3, SRR, NXN, MIS12, METTL16, PHF23, FAM57A, CTC1, NDEL1, PITPNM3, EMC6, RILP, TEKT1, HASPIN, ZMYND15, CAMKK1, RPAIN, TMEM107, NAA38, NEURL4, ZNF594, HES7, SPATA22, TXNDC17, MIR22HG, TMEM88, SAT2, SMYD4, CNTROB, CYB5D1, OVCA2, USP43, KRBA2, SLC43A2, CYB5D2, C17orf49, ZFP3, GGT6, SPNS2, WDR81, DNAH2, RTN4RL1, CFAP52, CCDC42, PIK3R6, ODF4, KCTD11, MFSD6L, TRPV3, SLC16A11, FBXO39, DHRS7C, SLC16A13, SPEM2, SPNS3, TMEM256, BCL6B, LOC284009, VMO1, RNF227, LINC00324, SLC13A5, TMEM102, TRARG1, LOC339166, TMEM95, SMTNL2, RFLNB, SPEM1, GLTPD2, INCA1, SCIMP, C17orf100, SPDYE4, TMEM220, SHISA6, SLC25A35, C17orf97, LINC01996, MED11, MIR132, MIR195, MIR212, MIR22, TNFSF12-TNFSF13, RNASEK, MIR324, MIR497, SLC35G6, RNF222, GSG1L2, PIRT, SNORA48, SNORD10, OR1D4, SCARNA21, SNORD91A, SNORD91B, SNORD118, BHLHA9, TLCD2, LOC728392, MIR744, LOC100128288, MYHAS, C17orf107, LOC100130950, TRS-CGA1-1, TRW-CCA3-3, TRW-CCA1-1, TRP-CGG1-3, TRS-AGA2-6, TRT-AGT1-1, TRG-TCC3-1, TRT-AGT1-2, TRS-GCT4-3, TRD-GTC2-11, TRI-AAT5-5, TRI-AAT4-1, TRT-AGT5-1, LOC100288728, TMEM238L, MIR1253, PITPNA-AS1, MIR3183, MIR4314, LINC02091, LOC100506388, ALOX12-AS1, MIR497HG, RNASEK-C17orf49, TMEM256-PLSCR3, SENP3-EIF4A1, P2RX5-TAX1BP3, MIR4520-1, MIR4521, MIR4520-2, LOC100996842, TMEM220-AS1, LOC101559451, LOC101927727, LOC101927839, LOC101927911, LOC101928000, LOC101928266, CCDC92B, MIR6776, MIR6864, MIR6865, MIR6883, LOC102724009, LOC105371430, LOC105371485, LINC01975, LOC105371506, LOC105371592, LOC106794092, LOC106799838, LOC107984973, LOC107988047, LOC108254670, LOC110120951, LOC110121369, LOC111413025, LOC111556120, LOC111828490
See casesPathogenic
(Aug 27, 2012)
no assertion criteria provided
89.
GRCh37:
Chr17:5636273-11998666
GRCh38:
Chr17:5732953-12095349
See casesPathogenic
(Sep 30, 2010)
no assertion criteria provided
90.
GRCh37:
Chr17:7381514-8338842
GRCh38:
Chr17:7478195-8435524
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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