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Items: 1 to 100 of 103

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:39687069
GRCh38:
Chr12:39293267
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr12:39687204
GRCh38:
Chr12:39293402
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr12:39687216
GRCh38:
Chr12:39293414
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr12:39687291
GRCh38:
Chr12:39293489
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr12:39687381
GRCh38:
Chr12:39293579
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr12:39687414
GRCh38:
Chr12:39293612
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr12:39687519
GRCh38:
Chr12:39293717
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr12:39687536
GRCh38:
Chr12:39293734
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr12:39687536
GRCh38:
Chr12:39293734
KIF21ACongenital fibrosis of the extraocular musclesBenign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr12:39687536
GRCh38:
Chr12:39293734
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr12:39687581
GRCh38:
Chr12:39293779
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr12:39687754
GRCh38:
Chr12:39293952
KIF21ACongenital fibrosis of the extraocular musclesBenign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr12:39687775
GRCh38:
Chr12:39293973
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr12:39687779
GRCh38:
Chr12:39293977
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr12:39687808
GRCh38:
Chr12:39294006
KIF21ACongenital fibrosis of the extraocular musclesBenign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr12:39687900
GRCh38:
Chr12:39294098
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr12:39687989
GRCh38:
Chr12:39294187
KIF21ACongenital fibrosis of the extraocular musclesBenign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr12:39688015
GRCh38:
Chr12:39294213
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr12:39688290
GRCh38:
Chr12:39294488
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr12:39695322
GRCh38:
Chr12:39301520
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr12:39695445
GRCh38:
Chr12:39301643
KIF21ACongenital fibrosis of the extraocular musclesBenign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr12:39696936
GRCh38:
Chr12:39303134
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr12:39698641
GRCh38:
Chr12:39304839
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr12:39698647
GRCh38:
Chr12:39304845
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr12:39698655
GRCh38:
Chr12:39304853
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr12:39698712
GRCh38:
Chr12:39304910
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr12:39703388
GRCh38:
Chr12:39309586
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr12:39703401
GRCh38:
Chr12:39309599
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr12:39705271
GRCh38:
Chr12:39311469
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr12:39709031
GRCh38:
Chr12:39315229
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr12:39711911
GRCh38:
Chr12:39318109
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr12:39713776
GRCh38:
Chr12:39319974
KIF21ACongenital fibrosis of the extraocular musclesBenign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr12:39716500
GRCh38:
Chr12:39322698
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr12:39720131
GRCh38:
Chr12:39326329
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr12:39724052
GRCh38:
Chr12:39330250
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr12:39724068
GRCh38:
Chr12:39330266
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr12:39725496
GRCh38:
Chr12:39331694
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr12:39725527
GRCh38:
Chr12:39331725
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr12:39725534
GRCh38:
Chr12:39331732
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr12:39726038
GRCh38:
Chr12:39332236
KIF21AFibrosis of extraocular muscles, congenital, 1Pathogenic
(Dec 1, 2003)
no assertion criteria provided
41.
GRCh37:
Chr12:39726206
GRCh38:
Chr12:39332404
KIF21AFibrosis of extraocular muscles, congenital, 1, Fibrosis of extraocular muscles, congenital, 3bPathogenic
(Mar 1, 2008)
no assertion criteria provided
42.
GRCh37:
Chr12:39726207
GRCh38:
Chr12:39332405
KIF21AFibrosis of extraocular muscles, congenital, 1, Fibrosis of extraocular muscles, congenital, 3b, not provided
Pathogenic
(Aug 17, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr12:39726408
GRCh38:
Chr12:39332606
KIF21AFibrosis of extraocular muscles, congenital, 3bPathogenic
(Jul 1, 2004)
no assertion criteria provided
44.
GRCh37:
Chr12:39726409
GRCh38:
Chr12:39332607
KIF21AFibrosis of extraocular muscles, congenital, 1Pathogenic
(Dec 1, 2003)
no assertion criteria provided
45.
GRCh37:
Chr12:39726410
GRCh38:
Chr12:39332608
KIF21AFibrosis of extraocular muscles, congenital, 1Pathogenic
(Dec 1, 2003)
no assertion criteria provided
46.
GRCh37:
Chr12:39726451
GRCh38:
Chr12:39332649
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr12:39726467
GRCh38:
Chr12:39332665
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr12:39726505
GRCh38:
Chr12:39332703
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr12:39726856
GRCh38:
Chr12:39333054
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr12:39726862
GRCh38:
Chr12:39333060
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr12:39726905
GRCh38:
Chr12:39333103
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr12:39727009
GRCh38:
Chr12:39333207
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr12:39727070
GRCh38:
Chr12:39333268
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr12:39733957
GRCh38:
Chr12:39340155
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr12:39733972
GRCh38:
Chr12:39340170
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr12:39733990
GRCh38:
Chr12:39340188
KIF21AAniridiaLikely benign
(Jan 1, 2013)
criteria provided, single submitter
57.
GRCh37:
Chr12:39734827
GRCh38:
Chr12:39341025
KIF21Anot providedLikely pathogenic
(Mar 3, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr12:39735342
GRCh38:
Chr12:39341540
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr12:39735348
GRCh38:
Chr12:39341546
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr12:39735863
GRCh38:
Chr12:39342061
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr12:39735937
GRCh38:
Chr12:39342135
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr12:39745624
GRCh38:
Chr12:39351822
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr12:39745710
GRCh38:
Chr12:39351908
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr12:39750624
GRCh38:
Chr12:39356822
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr12:39751120
GRCh38:
Chr12:39357318
KIF21ACongenital fibrosis of the extraocular musclesBenign
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr12:39751134
GRCh38:
Chr12:39357332
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr12:39751215
GRCh38:
Chr12:39357413
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr12:39752035
GRCh38:
Chr12:39358233
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr12:39752128
GRCh38:
Chr12:39358326
KIF21AFibrosis of extraocular muscles, congenital, 1Pathogenic
(Jan 14, 2016)
no assertion criteria provided
70.
GRCh37:
Chr12:39756944
GRCh38:
Chr12:39363142
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr12:39760152
GRCh38:
Chr12:39366350
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr12:39760230
GRCh38:
Chr12:39366428
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr12:39760959
GRCh38:
Chr12:39367157
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr12:39761707
GRCh38:
Chr12:39367905
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr12:39763727
GRCh38:
Chr12:39369925
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr12:39763946
GRCh38:
Chr12:39370144
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr12:39764024
GRCh38:
Chr12:39370222
KIF21AFibrosis of extraocular muscles, congenital, 1Pathogenic
(Jan 14, 2016)
no assertion criteria provided
78.
GRCh37:
Chr12:39836791
GRCh38:
Chr12:39442989
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr12:39836803
GRCh38:
Chr12:39443001
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr12:39836813
GRCh38:
Chr12:39443011
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr12:39836918
GRCh38:
Chr12:39443116
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr12:39836919
GRCh38:
Chr12:39443117
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr12:39836937
GRCh38:
Chr12:39443135
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr12:39836967
GRCh38:
Chr12:39443165
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr12:39836975
GRCh38:
Chr12:39443173
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr12:39836982
GRCh38:
Chr12:39443180
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr12:39837017
GRCh38:
Chr12:39443215
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr12:39837085
GRCh38:
Chr12:39443283
KIF21ACongenital fibrosis of the extraocular musclesBenign
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr12:39837107
GRCh38:
Chr12:39443305
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr12:39837111
GRCh38:
Chr12:39443309
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr12:39837117
GRCh38:
Chr12:39443315
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr12:39837164
GRCh38:
Chr12:39443362
KIF21ACongenital fibrosis of the extraocular musclesUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr12:39837183
GRCh38:
Chr12:39443381
KIF21ACongenital fibrosis of the extraocular musclesLikely benign
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr12:29123400-40956186
See casesLikely pathogenic
(Feb 1, 2016)
no assertion criteria provided
95.
GRCh37:
Chr12:173787-133777902
A2M, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5B, ATP5G2, AVPR1A, BCAT1, BCL7A, BICD1, BTG1, C1R, C1S, C3AR1, CACNA1C, CACNB3, CCND2, CCNT1, CD4, CD9, CD27, SCARB1, CD63, CD69, CDK2, CDK4, CDKN1B, CHD4, CMKLR1, CNTN1, COL2A1, COX6A1, CPM, CREBL2, CRY1, CS, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNAI2P1, GNB3, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, EEA1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, TMEM5, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, KLRA1P, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, EEF1AKMT3, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, KIAA1551, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, INTS13, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, DAD1P1, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, SINHCAF, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25, TMEM117, TCHP, COQ5, LLPH, PYM1, CCDC77, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, ARHGEF25, C12orf56, IQCD, AGAP2, DCD, RAB3IP, BORCS5, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, FAM186A, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, TMEM132D, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, TPH2, SP7, GTSF1, OR10A7, KRT74, NEDD1, IKBIP, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, BTBD11, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, C12orf60, FBXL14, RAD9B, FAM109A, TMTC2, CLEC12A, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, ZNF384, PGAM5, KRT78, RILPL2, DNAH10, AMN1, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, C12orf80, DPY19L2, CLEC9A, GAS2L3, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, FAM19A2, SLCO1B7, PABPC1P4, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, CFAP73, TMEM233, KMT5A, OR6C1, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, CLLU1, MIR492, HIGD1C, MAP1LC3B2, PRB2, LRTM2, MIR616, C12orf73, SKP1P2, C12orf71, SLC15A5, LOC100049716, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, HOXC13-AS, ZNF891
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
96.
GRCh37:
Chr12:173787-133777902
A2M, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5B, ATP5G2, AVPR1A, BCAT1, BCL7A, BICD1, BTG1, C1R, C1S, C3AR1, CACNA1C, CACNB3, CCND2, CCNT1, CD4, CD9, CD27, SCARB1, CD63, CD69, CDK2, CDK4, CDKN1B, CHD4, CMKLR1, CNTN1, COL2A1, COX6A1, CPM, CREBL2, CRY1, CS, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNAI2P1, GNB3, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, EEA1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, TMEM5, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, KLRA1P, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, EEF1AKMT3, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, KIAA1551, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, INTS13, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, DAD1P1, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, SINHCAF, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25, TMEM117, TCHP, COQ5, LLPH, PYM1, CCDC77, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, ARHGEF25, C12orf56, IQCD, AGAP2, DCD, RAB3IP, BORCS5, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, FAM186A, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, TMEM132D, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, TPH2, SP7, GTSF1, OR10A7, KRT74, NEDD1, IKBIP, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, BTBD11, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, C12orf60, FBXL14, RAD9B, FAM109A, TMTC2, CLEC12A, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, ZNF384, PGAM5, KRT78, RILPL2, DNAH10, AMN1, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, C12orf80, DPY19L2, CLEC9A, GAS2L3, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, FAM19A2, SLCO1B7, PABPC1P4, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, CFAP73, TMEM233, KMT5A, OR6C1, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, CLLU1, MIR492, HIGD1C, MAP1LC3B2, PRB2, LRTM2, MIR616, C12orf73, SKP1P2, C12orf71, SLC15A5, LOC100049716, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, HOXC13-AS, ZNF891
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
97.
GRCh37:
Chr12:37889608-41414167
ABCD2, CNTN1, KIF21A, SLC2A13, LRRK2, ALG10B, CPNE8, C12orf40, MUC19See casesUncertain significance
(Apr 22, 2014)
no assertion criteria provided
98.
GRCh37:
Chr12:37857750-49791459
See casesPathogenicno assertion criteria provided
99.
GRCh37:
Chr12:39598809-41141181
ABCD2, CNTN1, KIF21A, SLC2A13, LRRK2, C12orf40, MUC19See casesUncertain significanceno assertion criteria provided
100.
GRCh37:
Chr12:1-133851895
A2M, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5B, ATP5G2, AVPR1A, BCAT1, BCL7A, BICD1, BTG1, C1R, C1S, C3AR1, CACNA1C, CACNB3, CCND2, CCNT1, CD4, CD9, CD27, SCARB1, CD63, CD69, CDK2, CDK4, CDKN1B, CHD4, CMKLR1, CNTN1, COL2A1, COX6A1, CPM, CREBL2, CRY1, CS, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNAI2P1, GNB3, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, EEA1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, TMEM5, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, KLRA1P, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, EEF1AKMT3, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, KIAA1551, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, INTS13, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, DAD1P1, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, SINHCAF, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25, TMEM117, TCHP, COQ5, LLPH, PYM1, CCDC77, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, ARHGEF25, C12orf56, IQCD, AGAP2, DCD, RAB3IP, BORCS5, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, FAM186A, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, TMEM132D, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, TPH2, SP7, GTSF1, OR10A7, KRT74, NEDD1, IKBIP, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, BTBD11, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, C12orf60, FBXL14, RAD9B, FAM109A, TMTC2, CLEC12A, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, ZNF384, PGAM5, KRT78, RILPL2, DNAH10, AMN1, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, C12orf80, DPY19L2, CLEC9A, GAS2L3, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, FAM19A2, SLCO1B7, PABPC1P4, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, CFAP73, TMEM233, KMT5A, OR6C1, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, CLLU1, MIR492, HIGD1C, MAP1LC3B2, ANHX, PRB2, LRTM2, MIR616, C12orf73, SKP1P2, C12orf71, SLC15A5, LOC100049716, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, HOXC13-AS, ZNF891
See casesPathogenic
(Sep 20, 2016)
criteria provided, single submitter
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