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Did you mean TFAP2B as a gene symbol? Search ClinVar for TFAP2B

See TFAP2B transcription factor AP-2 beta in the Gene database

Search results

Items: 90

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:45649408-54076842
GRCh38:
Chr6:45681671-54212044
See casesPathogenic
(Aug 20, 2012)
no assertion criteria providedVCV000149301
2.
GRCh37:
Chr6:47159515-51292104
GRCh38:
Chr6:47191779-51427306
See casesLikely pathogenic
(Mar 24, 2014)
no assertion criteria providedVCV000153225
3.
GRCh37:
Chr6:50786571
GRCh38:
Chr6:50818858
TFAP2BChar syndrome, not providedBenign
(Sep 10, 2021)
criteria provided, multiple submitters, no conflictsVCV001273651
4.
GRCh37:
Chr6:50786607
GRCh38:
Chr6:50818894
TFAP2BM1ICraniosynostosis syndromeLikely pathogenic
(Jul 23, 2019)
no assertion criteria providedVCV001344682
5.
GRCh37:
Chr6:50786652
GRCh38:
Chr6:50818939
TFAP2Bnot providedLikely benign
(May 15, 2018)
criteria provided, single submitterVCV000357272
6.
GRCh37:
Chr6:50791110
GRCh38:
Chr6:50823397
TFAP2Bnot providedLikely benign
(May 15, 2018)
criteria provided, single submitterVCV000748066
7.
GRCh37:
Chr6:50791116
GRCh38:
Chr6:50823403
TFAP2Bnot providedLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000746541
8.
GRCh37:
Chr6:50791130
GRCh38:
Chr6:50823417
TFAP2BD31Gnot providedUncertain significance
(Dec 11, 2021)
criteria provided, single submitterVCV001360116
9.
GRCh37:
Chr6:50791199
GRCh38:
Chr6:50823486
TFAP2BA54Gnot providedUncertain significance
(Nov 6, 2021)
criteria provided, single submitterVCV001418292
10.
GRCh37:
Chr6:50791217
GRCh38:
Chr6:50823504
TFAP2BT60Nnot providedUncertain significance
(Feb 12, 2020)
criteria provided, single submitterVCV001312414
11.
GRCh37:
Chr6:50791237
GRCh38:
Chr6:50823524
TFAP2BP67Snot providedUncertain significance
(Jan 26, 2021)
criteria provided, single submitterVCV001304203
12.
GRCh37:
Chr6:50791256
GRCh38:
Chr6:50823543
TFAP2BP73RChar syndromePathogenic
(Jan 2, 2013)
no assertion criteria providedVCV000008044
13.
GRCh37:
Chr6:50791290
GRCh38:
Chr6:50823577
TFAP2Bnot providedBenign
(Oct 4, 2021)
criteria provided, single submitterVCV000357273
14.
GRCh37:
Chr6:50791310-50791311
GRCh38:
Chr6:50823597-50823598
TFAP2BY93fsnot providedPathogenic
(Apr 1, 2021)
criteria provided, single submitterVCV001176512
15.
GRCh37:
Chr6:50791472-50791475
GRCh38:
Chr6:50823759-50823762
TFAP2BP147fsPatent ductus arteriosus 2Pathogenic
(Oct 17, 2016)
no assertion criteria providedVCV000243019
16.
GRCh37:
Chr6:50791482
GRCh38:
Chr6:50823769
TFAP2BD148EChar syndromeBenign
(Jan 2, 2013)
no assertion criteria providedVCV000021358
17.
GRCh37:
Chr6:50791560
GRCh38:
Chr6:50823847
TFAP2Bnot providedLikely benign
(Aug 16, 2018)
criteria provided, single submitterVCV000357276
18.
GRCh37:
Chr6:50791578
GRCh38:
Chr6:50823865
TFAP2Bnot providedUncertain significance
(Feb 10, 2020)
criteria provided, single submitterVCV001314941
19.
GRCh37:
Chr6:50791584-50791585
GRCh38:
Chr6:50823871-50823872
TFAP2Bnot provided, Char syndromeConflicting interpretations of pathogenicity
(Oct 20, 2021)
criteria provided, conflicting interpretationsVCV000357277
20.
GRCh37:
Chr6:50791585-50791592
GRCh38:
Chr6:50823872-50823879
TFAP2Bnot providedBenign
(Dec 10, 2021)
criteria provided, single submitterVCV001608032
21.
GRCh37:
Chr6:50791585-50791588
GRCh38:
Chr6:50823872-50823875
TFAP2BChar syndrome, not specified, not provided
Benign
(Nov 27, 2021)
criteria provided, multiple submitters, no conflictsVCV000258985
22.
GRCh37:
Chr6:50791588
GRCh38:
Chr6:50823875
TFAP2Bnot specifiedBenigncriteria provided, single submitterVCV000258984
23.
GRCh37:
Chr6:50791592
GRCh38:
Chr6:50823879
TFAP2Bnot providedBenign
(Dec 13, 2021)
criteria provided, multiple submitters, no conflictsVCV001269905
24.
GRCh37:
Chr6:50791640
GRCh38:
Chr6:50823927
TFAP2Bnot providedBenign
(May 15, 2021)
criteria provided, single submitterVCV001235099
25.
GRCh37:
Chr6:50796329-50796332
GRCh38:
Chr6:50828616-50828619
TFAP2Bnot providedUncertain significance
(May 23, 2018)
criteria provided, single submitterVCV000545952
26.
GRCh37:
Chr6:50796330
GRCh38:
Chr6:50828617
TFAP2BPatent ductus arteriosus 2Pathogenic
(Oct 17, 2016)
no assertion criteria providedVCV000243018
27.
GRCh37:
Chr6:50796394
GRCh38:
Chr6:50828681
TFAP2BCraniosynostosis syndromeLikely pathogenic
(Jul 23, 2019)
no assertion criteria providedVCV001344683
28.
GRCh37:
Chr6:50796397
GRCh38:
Chr6:50828684
TFAP2BPatent ductus arteriosus 2, Char syndromePathogenic
(Jan 2, 2013)
no assertion criteria providedVCV000021359
29.
GRCh37:
Chr6:50796634
GRCh38:
Chr6:50828921
TFAP2Bnot providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001244657
30.
GRCh37:
Chr6:50803785
GRCh38:
Chr6:50836072
TFAP2BP205Snot providedUncertain significance
(Oct 30, 2020)
criteria provided, single submitterVCV001303583
31.
GRCh37:
Chr6:50803821
GRCh38:
Chr6:50836108
TFAP2BG217fsChar syndromePathogenic
(Nov 14, 2017)
criteria provided, single submitterVCV000599040
32.
GRCh37:
Chr6:50803863
GRCh38:
Chr6:50836150
TFAP2BC231Rnot providedUncertain significance
(Jul 26, 2019)
criteria provided, single submitterVCV001307411
33.
GRCh37:
Chr6:50803878
GRCh38:
Chr6:50836165
TFAP2BR236SChar syndromePathogenic
(Jan 2, 2013)
no assertion criteria providedVCV000008042
34.
GRCh37:
Chr6:50803878
GRCh38:
Chr6:50836165
TFAP2BR236CChar syndromePathogenic
(Jan 2, 2013)
no assertion criteria providedVCV000008041
35.
GRCh37:
Chr6:50803879
GRCh38:
Chr6:50836166
TFAP2BR236HChar syndromeLikely pathogenic
(Oct 22, 2021)
no assertion criteria providedVCV001326927
36.
GRCh37:
Chr6:50803892
GRCh38:
Chr6:50836179
TFAP2Bnot providedLikely benign
(Apr 26, 2021)
criteria provided, single submitterVCV001549642
37.
GRCh37:
Chr6:50803944
GRCh38:
Chr6:50836231
TFAP2BS258AChar syndromeBenign
(Jan 2, 2013)
no assertion criteria providedVCV000021360
38.
GRCh37:
Chr6:50805687
GRCh38:
Chr6:50837974
TFAP2BChar syndromePathogenic
(Jan 2, 2013)
no assertion criteria providedVCV000021361
39.
GRCh37:
Chr6:50805690
GRCh38:
Chr6:50837977
TFAP2BA275DChar syndromePathogenic
(Nov 20, 2019)
criteria provided, single submitterVCV000008039
40.
GRCh37:
Chr6:50805693
GRCh38:
Chr6:50837980
TFAP2BK276RCraniosynostosis syndromeLikely pathogenic
(Jul 23, 2019)
no assertion criteria providedVCV001344684
41.
GRCh37:
Chr6:50805696
GRCh38:
Chr6:50837983
TFAP2BS277WChar syndrome, Upslanted palpebral fissure, Hypertelorism,
Bifid nasal tip, Opacification of the corneal stroma, Clinodactyly of the 5th finger
Uncertain significance
(Jan 1, 2016)
criteria provided, single submitterVCV000374174
42.
GRCh37:
Chr6:50805720
GRCh38:
Chr6:50838007
TFAP2BR285QChar syndromePathogenic
(Sep 8, 2017)
criteria provided, single submitterVCV000008043
43.
GRCh37:
Chr6:50805764
GRCh38:
Chr6:50838051
TFAP2BR300CChar syndromePathogenic
(Jan 2, 2013)
no assertion criteria providedVCV000008040
44.
GRCh37:
Chr6:50805783
GRCh38:
Chr6:50838070
TFAP2BT306MChar syndromeLikely pathogenic
(Dec 19, 2018)
no assertion criteria providedVCV000599234
45.
GRCh37:
Chr6:50805942
GRCh38:
Chr6:50838229
TFAP2Bnot providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001274986
46.
GRCh37:
Chr6:50807899
GRCh38:
Chr6:50840186
TFAP2BG324Anot providedUncertain significance
(Mar 30, 2021)
criteria provided, single submitterVCV001305755
47.
GRCh37:
Chr6:50807925
GRCh38:
Chr6:50840212
TFAP2BA333Snot providedLikely benign
(Oct 11, 2021)
criteria provided, single submitterVCV001648705
48.
GRCh37:
Chr6:50807933
GRCh38:
Chr6:50840220
TFAP2Bnot providedLikely benign
(Jul 16, 2018)
criteria provided, single submitterVCV000724425
49.
GRCh37:
Chr6:50807934
GRCh38:
Chr6:50840221
TFAP2BV336Inot providedBenign
(Jan 17, 2020)
criteria provided, single submitterVCV000357281
50.
GRCh37:
Chr6:50810497
GRCh38:
Chr6:50842784
TFAP2Bnot providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001221895
51.
GRCh37:
Chr6:50810826
GRCh38:
Chr6:50843113
TFAP2Bnot providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000755778
52.
GRCh37:
Chr6:50810827
GRCh38:
Chr6:50843114
TFAP2BD369HChar syndromeUncertain significance
(Feb 13, 2019)
criteria provided, single submitterVCV001028094
53.
GRCh37:
Chr6:50810838
GRCh38:
Chr6:50843125
TFAP2Bnot providedLikely benign
(Nov 14, 2017)
criteria provided, single submitterVCV000725464
54.
GRCh37:
Chr6:50810866
GRCh38:
Chr6:50843153
TFAP2BR382*Craniosynostosis syndromeLikely pathogenic
(Jul 23, 2019)
no assertion criteria providedVCV001344685
55.
GRCh37:
Chr6:50810881
GRCh38:
Chr6:50843168
TFAP2Bnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000357283
56.
GRCh37:
Chr6:50810915
GRCh38:
Chr6:50843202
TFAP2BF398Snot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitterVCV001464539
57.
GRCh37:
Chr6:50810967
GRCh38:
Chr6:50843254
TFAP2Bnot providedLikely benign
(Mar 24, 2021)
criteria provided, single submitterVCV001666133
58.
GRCh37:
Chr6:50811026
GRCh38:
Chr6:50843313
TFAP2BN435Tnot providedLikely benign
(Sep 15, 2021)
criteria provided, single submitterVCV000357286
59.
GRCh37:
Chr6:50811115
GRCh38:
Chr6:50843402
TFAP2Bnot specified, not providedBenign
(May 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000258983
60.
GRCh37:
Chr6:50811120-50811122
GRCh38:
Chr6:50843407-50843409
TFAP2BChar syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000357287
61.
GRCh37:
Chr6:50811238
GRCh38:
Chr6:50843525
TFAP2Bnot providedBenign
(May 19, 2021)
criteria provided, single submitterVCV001285676
62.
GRCh37:
Chr6:50811238-50811239
GRCh38:
Chr6:50843525-50843526
TFAP2BChar syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357289
63.
GRCh37:
Chr6:50811241
GRCh38:
Chr6:50843528
TFAP2Bnot providedBenign
(May 15, 2021)
criteria provided, single submitterVCV001265684
64.
GRCh37:
Chr6:50811283
GRCh38:
Chr6:50843570
TFAP2Bnot providedBenign
(May 19, 2021)
criteria provided, single submitterVCV001284149
65.
GRCh37:
Chr6:50812004-50812005
GRCh38:
Chr6:50844291-50844292
TFAP2BChar syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357299
66.
GRCh37:
Chr6:50812004
GRCh38:
Chr6:50844291
TFAP2Bnot provided, Char syndromeConflicting interpretations of pathogenicity
(May 17, 2021)
criteria provided, conflicting interpretationsVCV000357298
67.
GRCh37:
Chr6:50812015
GRCh38:
Chr6:50844302
TFAP2Bnot providedBenign
(May 15, 2021)
criteria provided, single submitterVCV001259965
68.
GRCh37:
Chr6:50812015-50812016
GRCh38:
Chr6:50844302-50844303
TFAP2Bnot provided, Char syndromeConflicting interpretations of pathogenicity
(May 15, 2021)
criteria provided, conflicting interpretationsVCV000357302
69.
GRCh37:
Chr6:50812015-50812016
GRCh38:
Chr6:50844302-50844303
TFAP2BChar syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357301
70.
GRCh37:
Chr6:50812015-50812019
GRCh38:
Chr6:50844302-50844306
TFAP2BChar syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357300
71.
GRCh37:
Chr6:50812016-50812019
GRCh38:
Chr6:50844303-50844306
TFAP2BChar syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357304
72.
GRCh37:
Chr6:50812016-50812017
GRCh38:
Chr6:50844303-50844304
TFAP2Bnot provided, Char syndromeConflicting interpretations of pathogenicity
(May 16, 2021)
criteria provided, conflicting interpretationsVCV000357303
73.
GRCh37:
Chr6:50812017
GRCh38:
Chr6:50844304
TFAP2Bnot providedBenign
(May 15, 2021)
criteria provided, single submitterVCV001225055
74.
GRCh37:
Chr6:50812017-50812021
GRCh38:
Chr6:50844304-50844308
TFAP2BChar syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357305
75.
GRCh37:
Chr6:50812530
GRCh38:
Chr6:50844817
TFAP2BChar syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357313
76.
GRCh37:
Chr6:50812748
GRCh38:
Chr6:50845035
TFAP2BChar syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357314
77.
GRCh37:
Chr6:50813038-50813039
GRCh38:
Chr6:50845325-50845326
TFAP2BChar syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000357322
78.
GRCh37:
Chr6:50815317-50815318
GRCh38:
Chr6:50847604-50847605
TFAP2BChar syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000357354
79.
GRCh37:
Chr6:50815333
GRCh38:
Chr6:50847620
TFAP2BChar syndromeBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000369566
80.
GRCh37:
Chr6:43636308-64947206
not providedLikely pathogenicno assertion criteria providedVCV001676306
81.
GRCh37:
Chr6:43636308-50947320
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitterVCV001527236
82.
GRCh37:
Chr6:50011288-50812180
DEFB112, TFAP2B, TFAP2Dnot providedPathogenic
(Oct 6, 2021)
criteria provided, single submitterVCV001455701
83.
GRCh37:
Chr6:48626041-55575545
See casesLikely pathogenic
(Dec 12, 2019)
no assertion criteria providedVCV000983177
84.
GRCh37:
Chr6:29455465-81447367
ELOVL5, ENPP4, PTCHD4, PTCRA, RAB23, RAB44, RPL7L1, RCAN2, RN7SK, PTP4A1, PXT1, ENPP5, ERVH-3, ETV7, EYS, FAM135A, FAM83B, FANCE, FBXO9, FGD2, FILIP1, FKBP5, GLP1R, GSTA5, GLYATL3, PTK7, SDHAF4, SENP6, SCUBE3, AGPAT1, AIF1, ANKRD66, ANKS1A, APOBEC2, APOM, ARMC12, ATAT1, ATF6B, ATP6V1G2, B3GALT4, B3GAT2, BAG2, BAG6, BAK1, BCKDHB, BEND6, BICRAL, BMP5, BNIP5, BYSL, BRD2, BRPF3, BTBD9, BTNL2, C2, C4A, C4B, C6orf132, C6orf136, C6orf141, C6orf15, C6orf223, C6orf226, C6orf47, C6orf89, CAPN11, CCDC167, CCHCR1, CCND3, CD109, CD2AP, CDC5L, CDKN1A, CDSN, CENPQ, CFB, CGAS, CILK1, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CMTR1, CNPY3, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CSNK2B, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DAXX, DDAH2, DDR1, DDX39B, DDX43, DEF6, DEFB110, DEFB112, DEFB113, DEFB114, DHX16, DLK2, DNAH8, DNPH1, DPPA5, DXO, EEF1A1, EFHC1, EGFL8, EHMT2, ELOVL4, FKBPL, FLOT1, FOXP4, FRS3, GABBR1, GCLC, GCM1, GFRAL, GLO1, GNL1, GNMT, GPANK1, GSTA4, GPSM3, GRM4, GSTA1, GSTA2, GSTA3, GTF2H4, GTPBP2, GUCA1A, GUCA1B, HCG17, HCG22, HCG26, HCP5, HCRTR2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, ILRUN, HLA-G, HMGA1, HMGCLL1, HMGN3, IMPG1, HSD17B8, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, IER3, IL17A, IL17F, IP6K3, IRAK1BP1, ITPR3, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA1586, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, LCA5, LEMD2, LGSN, LHFPL5, LINC00951, LINC01621, LMBRD1, LOC101926915, LOC101927189, LRFN2, LRRC1, LRRC73, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, MAD2L1BP, MAPK13, MAPK14, MAS1L, MCCD1, MCM3, MDC1, MDFI, MDGA1, MEA1, MED20, MEP1A, MICA, MICB, MIR133B, MIR206, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMUT, MOCS1, MOG, NCR2, MPIG6B, MRPL14, MRPL2, MRPS10, MRPS18A, MRPS18B, MSH5, MTCH1, MTO1, MUC21, MUC22, MUCL3, MYO6, NCR3, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NOTCH4, NRM, NUDT3, OARD1, OGFRL1, OOEP, OPN5, OR2H2, PACSIN1, PAQR8, PBX2, PEX6, PFDN6, PGC, PGK2, PHF1, PHF3, PHIP, PI16, PIM1, PKHD1, PLA2G7, PNPLA1, POLH, POLR1C, POLR1H, POU5F1, PPARD, PPIL1, PPP1R10, PPP1R11, PPP1R18, PPP2R5D, PPT2, PRICKLE4, PRPH2, PRR3, PRRC2A, PRRT1, PSMB8, PSMB9, PSORS1C1, PSORS1C2, RGL2, RHAG, RIMS1, RING1, RNF39, RNF5, RNF8, RPL10A, RPP21, RPS10, RPS18, RRP36, RSPH9, RUNX2, RXRB, SAPCD1, SAYSD1, SFTA2, SH3BGRL2, SKIV2L, SLC17A5, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC35B2, SLC39A7, SLC44A4, SMAP1, SMIM29, SNHG32, SNRPC, SPATS1, SPDEF, SRF, SRPK1, SRSF3, STK19, STK38, SUPT3H, SYNGAP1, TAF11, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBCC, TCF19, TCP11, TCTE1, TDRD6, TEAD3, TFAP2B, TFAP2D, TFEB, TINAG, TJAP1, TMEM14A, TMEM151B, TMEM217, TMEM30A, TMEM63B, TNF, TNFRSF21, TNXB, TOMM6, TRAM2, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRIM10, TRIM15, TSPO2, TRIM26, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TSBP1, TTBK1, TTK, TUBB, TULP1, USP49, UBD, UBR2, UHRF1BP1, UNC5CL, UQCC2, VARS1, VARS2, VEGFA, YIPF3, VPS52, VWA7, WDR46, XPO5, ZBTB12, ZBTB22, ZBTB9, ZFAND3, ZFP57, ZNF318, ZNF451, ZNF76, AARS2, ABCC10, ABCF1, ADGRF5, ABHD16A, ADGRB3, ADGRF1, ADGRF2, ADGRF4, AGER
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625706
85.
GRCh37:
Chr6:165632-170919470
CLIC1, IRF4, CALHM4, TAAR1, MTRES1, PHIP, CLPS, NR2E1, PACRG, KIAA0319, HLA-DQA1, KHDRBS2, TRAPPC3L, QKI, EHMT2, GLP1R, BRD2, HCRTR2, GPR31, PERP, BTN3A3, HTR1B, VARS2, PCMT1, UBD, SOX4, DPPA5, MRPL14, GFOD1, ZSCAN16, RIPPLY2, PPARD, HS3ST5, GFRAL, SH3BGRL2, MYCT1, ZNF391, ARHGAP18, H2BC11, PLN, RFPL4B, GCM2, DACT2, POM121L2, LTB, FBXL4, H4C13, DOP1A, TAB2, BYSL, MICAL1, TFEB, TAAR6, MAP3K5, H2AC15, MRPL18, ERVFRD-1, CPNE5, RNF182, SYTL3, ADTRP, H2AC7, NCOA7, GRM4, H2AC13, NCR3, BAG6, TBC1D7, IPCEF1, ZFP57, BTN3A1, GPX6, AKAP12, EPM2A, RPP40, AIG1, MDGA1, C6orf47, GMPR, HMGN4, H2AC16, EZR, SNAP91, TBX18, PLA2G7, ELOVL4, TULP1, RPS10, OR2B2, HEBP2, AGER, PKIB, MAS1L, PTK7, GABRR1, UNC5CL, SNRNP48, SLC35B2, KLC4, VWA7, HCG26, CNR1, GSTA4, ALDH5A1, NQO2, CDKAL1, SERAC1, NCR2, EYS, CTAGE9, OPN5, MAK, ZBTB12, PFDN6, GSTA5, SCAF8, COQ3, IL20RA, RWDD1, TREML4, CCR6, DAAM2, WASF1, ZNF292, PHF1, OFCC1, H1-3, TNXB, H3C7, UNC93A, GSTA1, PPIL4, PSMG4, LAMA2, TNFAIP3, MYLK4, ALDH8A1, ADGB, SLC17A4, LRP11, FBXO5, TPBG, H3C10, CCND3, SEC63, AKIRIN2, PXT1, RNF217-AS1, GOPC, LOC729681, PRPF4B, LRFN2, SMIM8, PDCD2, TMEM14C, RPL10A, FKBP5, TCTE1, H2BC13, MMS22L, TRR-TCG4-1, CCDC28A, CDK19, OPRM1, TIAM2, RTN4IP1, BLOC1S5, COL12A1, H3C2, KIF13A, IMPG1, OR11A1, PNISR, CRISP3, C4A, TMEM217, FGD2, ARMC12, ROS1, KCTD20, METTL24, PSORS1C1, LTV1, ORC3, PPP1R14C, HYMAI, CENPW, SPDEF, EDN1, NFYA, TRX-CAT1-2, PTP4A1, LST1, H2BC1, TMEM170B, RGL2, CRIP3, H2BC14, MLN, BMP5, ENPP1, SPATS1, DLK2, FRS3, KIF6, FOXO3, SLC22A16, GMNN, ATF6B, TDP2, KHDC1L, OR2H1, ZSCAN31, FLOT1, F13A1, ASF1A, PDE7B, WDR46, RIMS1, COL21A1, POU3F2, NUS1, HCG22, TMEM244, BPHL, VNN1, MAPK14, REV3L, RMND1, UQCC2, TFAP2D, ELOVL5, H1-5, TCP11, CCDC170, TXLNB, BEND3, VARS1, COX7A2, MRAP2, GABRR2, CYP39A1, UST, IL17A, PHACTR1, PGBD1, HLA-DPB1, CFB, RREB1, CENPQ, H4C4, CCNC, LATS1, GTF2H4, ADGRF2, RRP36, BMP6, TAP1, EPB41L2, HLA-B, HLA-DQB2, TCP1, TFB1M, DEF6, BCLAF1, LHFPL5, OR2J2, TRIM27, PXDC1, MAD2L1BP, DSE, RAET1E, OR2H2, CRISP2, KCNK17, SMLR1, ZBTB2, GCM1, LCA5, ATG5, FNDC1, LY6G5C, TMEM242, MBOAT1, TSPYL4, TRMT11, RING1, OARD1, HLA-DMB, MRS2, TRIM38, TUBB2B, TAF11, TCF21, BAK1, NFKBIL1, BRPF3, LINC00951, ABHD16A, SLC29A1, RSPH9, SLC22A3, PRPH2, IGF2R, HLA-DRB1, SLC17A2, CGA, CUL7, PM20D2, H2AC6, KLHDC3, SMPDL3A, LY6G6D, LINC02487, SMOC2, SSR1, TSPYL1, TNFRSF21, REPS1, SIRT5, RPS6KA2, SESN1, EEF1E1, PTCHD4, NEU1, SYNE1, EPHA7, FAM184A, POLR1H, RCAN2, PHACTR2, SLC35D3, FUT9, GTF3C6, ILRUN, SLC22A7, MTHFD1L, PIM1, MOCS1, POU5F1, FHL5, PPP1R11, GNL1, HLA-DQB1, PSMB9, GTF2H5, H2BC15, H4C2, SASH1, OR2W1, GPANK1, TREML1, ZNF184, RXRB, ME1, PTPRK, RNF144B, H2BC12, PREP, L3MBTL3, DDR1, GABBR1, TFAP2A, SENP6, TPD52L1, HULC, PPIL1, RNF39, CDC40, H4C11, PPP1R10, FAM229B, BACH2, ATXN1, SMIM29, MIR30A, TAAR2, RNGTT, SNORD50B, DEFB114, PHF3, TBCC, THEMIS, FILIP1, H1-2, PRR3, H4C7, ECT2L, KLHL31, HLA-C, RNF8, MSH5, CASP8AP2, BTN2A2, MEA1, MARCKS, LY6G5B, LOC101926915, POLR1C, KHDC1, DDX39B, SNHG32, HSPA1A, AARS2, ZUP1, ATP6V1G2, PACSIN1, DNAH8, GRIK2, DXO, TENT5A, TRS-AGA2-3, HSD17B8, CALHM5, SMIM13, HLA-DMA, SERPINB6, B3GAT2, KU-MEL-3, DCDC2, H3C12, TREM2, LMBRD1, PNRC1, GSTA2, PRSS35, ZSCAN9, MPC1, MICB, CLIC5, NDUFAF4, EXOC2, HTR1E, MLIP, SLC25A27, ZBTB22, TCF19, GPR63, MMUT, SLC16A10, STX11, HMGA1, IP6K3, FOXP4, KLHL32, NUDT3, HLA-DQA2, MTO1, HSPA1L, GSTA3, OLIG3, SLC17A3, TAPBP, ERMARD, H2BC7, MDN1, KCNK16, RAB32, RPL7L1, PLEKHG1, OOEP, TUBB, KIF25, UBE3D, FBXO30, TRAF3IP2-AS1, SUPT3H, ZBTB9, ANKS1A, PRKN, PHF10, DUSP22, SYCP2L, RPS12, HLA-DRB5, C2, HLA-DOA, TBP, FRK, GCLC, UFL1, C6orf141, FOXQ1, ATAT1, DEFB112, SLC35B3, ECHDC1, RANBP9, H2BC4, KIAA0408, VEGFA, HLA-E, SAMD5, RNF5, CLDN20, MIR133B, SDHAF4, PAK1IP1, KIFC1, FABP7, CEP85L, CARMIL1, POLH, E2F3, H3C4, LINC01621, PGC, CDC5L, SFTA2, CCHCR1, ZSCAN23, GNMT, LIN28B, ARFGEF3, FOXF2, NKAIN2, CLPSL2, MAP7, PPT2, GPSM3, C6orf15, FYN, PEX3, RPS18, NHSL1, HMGCLL1, WRNIP1, TEAD3, TAGAP, HSP90AB1, H2AC14, HEY2, RUNX2, CGAS, SUMO4, PSMB8, DDO, PLG, NELFE, NRM, EFHC1, PGM3, SOBP, KAAG1, SRSF3, C6orf89, PGK2, PDE10A, RIPK1, TRDN, TMEM14A, GCNT2, MRPS18B, RARS2, UHRF1BP1, ARG1, BAG2, SAYSD1, ZBED9, H2BC8, H3C6, CLVS2, AIF1, WTAP, CAP2, MIR877, PAQR8, RAET1G, ASCC3, HCP5, MED20, KATNA1, ZFAND3, GPRC6A, SYNCRIP, BTNL2, SKIV2L, ZNF318, SRF, SRSF12, UBE2J1, HDAC2, C6orf226, RNASET2, PSORS1C2, C6orf52, GMDS, ETV7, AIRN, CCN2, H4C9, OR14J1, VNN2, MAP3K7, IFNGR1, SNORD50A, HACE1, OR12D2, PI16, TRIM39-RPP21, DAXX, H1-4, CDYL, ZSCAN26, PNLDC1, MAS1, SPACA1, MAN1A1, IL17F, TRIM26, PNPLA1, HLA-F, OR12D3, C6orf118, ECI2, MCHR2, TPMT, NOL7, OR2B3, TAAR9, ANKRD6, BCKDHB, ADAT2, TMEM200A, STXBP5, MCUR1, PRR18, RWDD2A, NUP153, SCGN, UBR2, KIAA1586, VTA1, H3C8, PRL, BICRAL, LOC101927189, ZNF322, SERINC1, TBC1D32, TUBE1, H2AC11, CILK1, ZC3H12D, MYO6, H3C1, DEFB113, ABRACL, CEP57L1, COL10A1, RAB44, LINC02539, FAXC, COL19A1, FAM8A1, RNF146, GJA1, CALHM6, PEX6, H1-1, MRPS10, AGPAT1, MIR206, MFSD4B, ARID1B, NT5DC1, EEF1A1, PBOV1, H2BC17, SIM1, FAM120B, ULBP3, SMAP1, CCDC167, C6orf58, TFAP2B, C6orf201, USP45, HBS1L, ADGRF5, CD109, MAPK13, GJA10, ACOT13, SF3B5, HLA-A, MUC21, NEDD9, APOM, NRSN1, STX7, TMEM181, RSPH4A, TTLL2, TRAM2, STK19, RN7SK, SLC17A5, CEP43, SERPINB1, RPF2, HLA-DRA, TRIM39, H2BC5, ID4, SAPCD1, NMBR, BEND6, HECA, TMEM14B, ARMT1, KCNK5, AKAP7, SLC35F1, LSM2, TRS-TGA2-1, HSF2, H2BC9, SNRPC, RNF217, GRM1, PRRT1, CNKSR3, H2AC12, FOXC1, ABCF1, VPS52, MTCH1, COL9A1, H2AC8, LRRC73, PPP1R3G, BNIP5, HCG17, HDGFL1, SNHG5, TRAF3IP2, ENPP3, CAGE1, LGSN, VNN3, HLA-DOB, LY6G6C, H3C3, PRRC2A, TBXT, ULBP2, APOBEC2, FBXO9, TMEM151B, C6orf223, TRIM31, MCCD1, TTK, ACAT2, LTA, H3C11, H2AC1, MED23, FAM50B, NFKBIE, CUTA, GLO1, SLC44A4, MANEA, CUL9, PDSS2, BTN1A1, EGFL8, MDFI, TRIM15, SRPK1, SNX9, TULP4, ANKRD66, SLC18B1, KPNA5, CITED2, C6orf136, H4C5, PRDM1, MDC1, ABT1, SAMD3, LAMA4, ZKSCAN4, TAAR8, C6orf62, LY86, RBM24, DYNLT2, SLC22A23, OR2J3, MTFR2, PEX7, FARS2, RPP21, TSPO2, H4C8, C6orf132, SLC26A8, MEP1A, GLYATL3, USP49, MOG, ENPP5, ZC2HC1B, IBTK, HIVEP1, COL11A2, RRAGD, SCML4, DSP, H2BC6, OR5V1, H2BC3, DDX43, MUCL3, OR2B6, CNPY3, PKHD1, SLC22A1, IL22RA2, AMD1, ABCC10, PBX2, HMGN3, IYD, MYB, CCN6, SOGA3, DTNBP1, NOTCH4, DHX16, LYRM4, RIPOR2, GJB7, ERVH-3, TOMM6, TDRD6, HDDC2, NT5E, LRRC1, C6orf163, ADGRF4, CAPN11, H1-6, AGPAT4, HLA-G, GPR6, XPO5, FIG4, MUC22, SNX3, SLC35A1, RIOK1, DEK, RAET1L, SGK1, TBPL1, STMND1, TAP2, CD164, CD83, MRPS18A, FKBPL, SOD2, TSTD3, TRA-TGC7-1, TJAP1, ZNF76, MIR219A1, SLC22A2, ELOVL2, MPIG6B, MTRF1L, ADGRF1, DCBLD1, OR10C1, ZBTB24, SNX14, TRX-CAT2-1, AFDN, FAM83B, UTRN, QRSL1, CDSN, SFT2D1, TAAR5, LYRM2, PRDM13, LINC01600, NUP43, DDAH2, SMPD2, CRYBG1, TRIM10, GPX5, WDR27, SLC39A7, PPP2R5D, OSTM1, YIPF3, FUCA2, AHI1, CRISP1, ADGRB3, JARID2, DEFB110, HINT3, LPA, DLL1, DYNLT1, NRN1, ULBP1, FRMD1, CEP162, OR2A4, RAB23, CDKN1A, VGLL2, SYNGAP1, CMTR1, RFX6, BTBD9, ENPP4, BTN2A1, ZKSCAN8, NHLRC1, CD2AP, H4C3, MCM9, SCUBE3, H4C12, SERPINB9, ESR1, ARMC2, H2AC4, CSNK2B, CLPSL1, TSBP1, TMEM63B, GPLD1, H4C1, PLAGL1, FAM135A, TTBK1, SHPRH, PRSS16, RHAG, KHDC3L, GUCA1A, KDM1B, FAM162B, BVES, TAF8, TREML2, ZKSCAN3, PPP1R18, FANCE, H2AC17, AK9, LINC02901, MOXD1, STK38, TRIM40, RGS17, POPDC3, ADGRG6, TUBB2A, IRAK1BP1, AFG1L, CFAP206, LY6G6F, RSPO3, RSPH3, IER3, LEMD2, KCNQ5, GUCA1B, ITPR3, HLA-DPA1, GTPBP2, VIP, C4B, TMEM30A, TREM1, NOX3, TNF, OGFRL1, TRS-TGA4-1, SLC17A1, PSMB1, PPIL6, HUS1B, PRICKLE4, EYA4, C6orf120, FAM217A, TINAG, MCM3, B3GALT4, GINM1, ZDHHC14, ZSCAN12, THBS2, ZNF165, HSPA1B, TBC1D22B, H4C6, SDIM1, CYP21A2, MRPL2, MYLIP, PTCRA, MAP3K4, ZNF451, HFE, HIVEP2, BTN3A2, SYNE1-AS1, MICA, H2BC10, DNPH1, SYNJ2, SLC2A12, TRERF1, CYB5R4, NKAPL, ZNF311
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000608768
86.
GRCh37:
Chr6:108666-170980171
H2BC10, MICB, HFE, ARMC2, CRISP2, VNN3, H2AC15, HTR1B, C6orf132, SLC2A12, TAAR2, CNR1, PAQR8, JARID2, PLA2G7, H1-3, PDE10A, SAPCD1, PPP1R14C, LOC101927189, SHPRH, BTN2A1, LAMA2, HLA-A, MAK, GMPR, GOPC, GNL1, TTK, MRS2, ZNF165, HCG22, TAF11, KHDC3L, FAM184A, RPL10A, TJAP1, TBX18, POU5F1, SCUBE3, GINM1, TNXB, SLC39A7, CYP39A1, PTPRK, AHI1, MTHFD1L, SFTA2, PRICKLE4, SNHG32, H3C7, FUT9, MTCH1, GABBR1, OPRM1, NQO2, ZC3H12D, KATNA1, ORC3, TPMT, GRM4, TSPYL4, ASF1A, SERINC1, TULP1, MDN1, TREM2, SRPK1, GTF2H5, GPR31, GUCA1A, DLL1, C6orf201, SMIM8, LTB, ABRACL, STMND1, STX7, TSBP1, SASH1, C4A, GABRR2, PXDC1, PRPH2, PDSS2, MSH5, TBPL1, PPT2, C6orf226, ZSCAN12, BEND6, SDIM1, MIR30A, TDRD6, HCG17, DYNLT2, DDX39B, POLR1H, TRIM26, TMEM181, NT5DC1, LSM2, BEND3, TINAG, TTBK1, MYCT1, CEP162, MOXD1, TRAF3IP2-AS1, CEP43, BMP5, ADAT2, SMOC2, RAET1G, DTNBP1, CEP57L1, L3MBTL3, PLN, ZSCAN9, RPF2, SIRT5, SLC29A1, STXBP5, OGFRL1, CAPN11, RMND1, TAP2, NRSN1, HTR1E, LY6G5B, LINC00951, MRPL18, YIPF3, BCLAF1, PPP1R18, RNF39, SNX14, EXOC2, HLA-B, ID4, RIPPLY2, H2AC12, RPS18, IPCEF1, DCBLD1, GMNN, AKIRIN2, SNAP91, H2AC16, STX11, TCP1, ZBTB24, H3C12, LIN28B, SOGA3, ZNF451, H2BC7, KHDC1, H3C4, FBXL4, SLC22A7, SMIM29, UBE3D, PLAGL1, WRNIP1, TREM1, RWDD1, ZC2HC1B, VTA1, EPB41L2, DDAH2, FAM50B, FYN, PHF3, H4C4, HUS1B, PRDM1, C2, SLC35A1, GABRR1, WDR27, H2BC14, CFAP206, TRIM39-RPP21, FUCA2, NEU1, H2AC1, STK38, NUDT3, COL9A1, ADGRF4, CRISP1, MYLK4, HULC, LAMA4, TBP, ELOVL4, PPIL1, TEAD3, MAS1L, EEF1A1, OR10C1, ATAT1, GSTA4, CPNE5, SLC22A23, TRIM10, H2AC13, SMAP1, ZNF322, KCNQ5, ACOT13, LHFPL5, SLC17A5, SERPINB1, TMEM151B, SERPINB6, GPLD1, SNRPC, APOM, OR2B3, TNFAIP3, ANKS1A, FAM8A1, TFEB, PACSIN1, HMGA1, C6orf223, NKAIN2, RIPK1, DSE, GTPBP2, SYNJ2, CYP21A2, FAXC, PHF1, VPS52, TRIM40, FNDC1, OR14J1, TMEM14C, H3C11, PEX7, EFHC1, PGM3, MAPK13, FOXO3, CLPSL2, ASCC3, MPC1, ME1, CYB5R4, GTF2H4, HLA-DOB, SCML4, WTAP, TAAR1, PTK7, BVES, H2BC12, COX7A2, TPD52L1, H1-6, OR5V1, H4C11, ABT1, QRSL1, LINC02901, DEFB110, STK19, TMEM200A, EEF1E1, PHACTR2, EHMT2, RPS10, SOD2, PRL, AGPAT1, HLA-DQA2, MMUT, CCDC170, SESN1, RNF144B, DNAH8, TDP2, SYNE1, RAET1E, CD2AP, GCM1, HLA-E, MCUR1, IMPG1, PBX2, FRK, GPX5, TAAR5, TNF, GCNT2, RSPO3, OR2W1, ADGRG6, MRPS18B, RN7SK, SMPDL3A, RRP36, ADGRF2, DEFB114, DEK, OR2J2, MRPS10, RNASET2, RPL7L1, FHL5, ZFAND3, H3C2, BRPF3, PSMB8, AFG1L, H2AC7, RNF5, SNX9, LRRC1, TSTD3, DOP1A, ADGB, GPANK1, IL17F, GPR63, MICAL1, GPR6, H1-5, CNPY3, TBC1D22B, UHRF1BP1, RNGTT, SLC17A1, DACT2, PDE7B, H2BC1, GFOD1, SOBP, TBCC, DDO, CALHM6, TRIM38, MEP1A, COL19A1, HBS1L, PGBD1, DAAM2, NUP43, NFKBIE, NRM, POM121L2, MUC21, MICA, PPIL4, RRAGD, PSMB1, COL12A1, XPO5, FAM135A, HLA-DPB1, MRPS18A, COQ3, C6orf58, DEFB113, PREP, BCKDHB, ENPP1, NMBR, BAG6, TRX-CAT1-2, KIFC1, ZSCAN31, LINC02539, SUMO4, ULBP3, EYS, GPX6, TMEM14A, FAM229B, ZBTB2, CUL7, TMEM244, HECA, CCNC, HCRTR2, ARG1, DYNLT1, MUC22, OR2H1, MYLIP, IL20RA, CENPW, ACAT2, UNC93A, CEP85L, MOCS1, CENPQ, H3C8, BLOC1S5, MRPL14, H3C3, LMBRD1, H2BC8, PNISR, SLC35B3, NRN1, DNPH1, ATP6V1G2, TUBE1, TMEM217, PSMB9, PNRC1, LGSN, NT5E, RANBP9, BICRAL, DHX16, NOL7, H2AC11, CFB, SYTL3, CDYL, LY6G6C, SYNGAP1, SAMD3, BYSL, HSF2, IL22RA2, CLDN20, RGL2, UBR2, NR2E1, H2BC6, LRP11, MUCL3, CAGE1, TMEM63B, SLC17A3, NUS1, NOTCH4, NELFE, GJA1, CCN2, ADGRB3, BTNL2, SMIM13, NHLRC1, IGF2R, HSD17B8, POU3F2, ZKSCAN4, GSTA5, PNPLA1, C6orf163, SSR1, NCR2, NEDD9, CCHCR1, PRDM13, H2BC17, SERAC1, REPS1, AIF1, TUBB2A, SF3B5, KIF13A, KCNK5, HMGN3, MLN, SLC22A2, TRS-TGA2-1, SYCP2L, TBC1D32, HLA-DRA, H4C3, PCMT1, PKIB, FOXC1, IER3, RAB44, MMS22L, UBD, TRERF1, SMLR1, LRFN2, PTP4A1, SYNE1-AS1, TREML1, COL10A1, ATG5, H2BC9, CNKSR3, DCDC2, TFB1M, TRAM2, SNRNP48, HACE1, NFYA, H1-2, CRISP3, ZFP57, PRRT1, ENPP5, NCOA7, POPDC3, UTRN, PSORS1C1, MDC1, TRMT11, MBOAT1, GLYATL3, HMGN4, H4C8, BACH2, UFL1, BTN1A1, PGK2, AGPAT4, ERVFRD-1, H4C9, BNIP5, FIG4, DXO, TFAP2D, H2AC6, MANEA, OR2J3, PPP2R5D, SYNCRIP, LY86, SEC63, CALHM4, ADGRF5, AIG1, PPP1R11, VNN1, LCA5, SLC22A16, ZKSCAN3, FGD2, HLA-DOA, RNF8, TTLL2, PIM1, PEX3, H3C10, H4C12, BTN3A2, CALHM5, TRIM31, COL11A2, TAAR6, RSPH3, PM20D2, FBXO30, HSPA1B, RPS6KA2, SOX4, MARCKS, SRF, SLC16A10, ELOVL2, MCCD1, TFAP2B, ABCF1, AGER, GFRAL, ELOVL5, SERPINB9, KPNA5, ZSCAN26, PTCRA, SFT2D1, FBXO9, LINC01600, ABCC10, MYB, RPP40, KLHL31, TCTE1, CASP8AP2, TCP11, MTFR2, FOXQ1, TRDN, GCLC, HLA-DRB1, RNF146, SNORD50B, TSPYL1, TRIM15, APOBEC2, PRRC2A, ADGRF1, UBE2J1, EZR, E2F3, PSMG4, KIAA0319, MIR133B, CRYBG1, MEA1, NHSL1, RIPOR2, CLIC1, TENT5A, HS3ST5, MCM3, ZNF184, ALDH5A1, HEBP2, CDKN1A, CAP2, TBXT, VNN2, FRS3, ERVH-3, C6orf141, MRPL2, RAET1L, GRIK2, OSTM1, MTRF1L, AMD1, H4C6, KU-MEL-3, USP49, PTCHD4, OR2B2, LTA, HSP90AB1, MED20, C6orf118, SLC22A1, HLA-DRB5, H2AC8, COL21A1, HINT3, BTBD9, NKAPL, H4C1, TPBG, H2AC4, KLHL32, MFSD4B, GPSM3, SLC22A3, BTN3A3, PRPF4B, ARFGEF3, IP6K3, LATS1, UST, GSTA3, DAXX, SLC44A4, WASF1, LYRM4, SLC25A27, SMPD2, TAGAP, BAG2, SCAF8, FKBPL, PXT1, OLIG3, GTF3C6, SRSF12, SLC17A2, OR2H2, DDX43, CCDC28A, NUP153, SIM1, CDC5L, RARS2, TXLNB, PPP1R3G, SNX3, PHIP, FILIP1, PGC, CCND3, ANKRD6, ABHD16A, RSPH9, MAD2L1BP, H2BC4, ZNF311, GUCA1B, CTAGE9, KLHDC3, TOMM6, ECHDC1, MPIG6B, RCAN2, PBOV1, ZNF292, GMDS, SDHAF4, HSPA1A, KIF25, CDSN, H3C1, DLK2, OPN5, MTO1, QKI, AK9, HSPA1L, HDGFL1, HLA-F, KIAA0408, HLA-G, THEMIS, ZUP1, H2BC13, TAB2, RHAG, MDFI, KAAG1, SAYSD1, MDGA1, ZSCAN16, LEMD2, RBM24, TSPO2, AIRN, RAB32, PI16, VWA7, DPPA5, NDUFAF4, ATF6B, CCDC167, OR2A4, CUTA, MCHR2, HDAC2, TMEM14B, POLH, DEF6, NFKBIL1, CLIC5, SPACA1, TMEM170B, EGFL8, PAK1IP1, ALDH8A1, HIVEP1, ARMT1, ENPP4, LRRC73, MOG, GJA10, CLPSL1, CGA, MAP3K5, ZDHHC14, RAB23, AKAP7, ITPR3, SPDEF, CLVS2, SCGN, LY6G6F, LINC02487, C6orf89, TCF19, RFPL4B, GLO1, CCN6, NOX3, SLC17A4, MTRES1, PEX6, DUSP22, HCG26, TNFRSF21, UNC5CL, RPP21, SNHG5, TFAP2A, PPIL6, EPM2A, TRX-CAT2-1, SNORD50A, RNF217-AS1, IRF4, B3GALT4, HDDC2, SKIV2L, OR12D3, SUPT3H, H4C7, KLC4, H2BC15, OARD1, USP45, PACRG, FANCE, PFDN6, SH3BGRL2, HIVEP2, LOC101926915, BTN2A2, TRAPPC3L, FAM217A, LOC729681, PHACTR1, METTL24, SGK1, TAP1, CILK1, ERMARD, H4C13, TUBB2B, ECT2L, MAN1A1, TRIM27, TRS-AGA2-3, ILRUN, AKAP12, C6orf120, UQCC2, MIR877, FLOT1, GCM2, HYMAI, MAPK14, TBC1D7, SLC18B1, VEGFA, PERP, EDN1, EPHA7, HLA-DMA, CDK19, ARHGAP18, HLA-DPA1, TRR-TCG4-1, ZNF391, HLA-DQB2, PRKN, ARID1B, ZBTB9, GJB7, MIR219A1, TRA-TGC7-1, RFX6, CITED2, CD164, ZSCAN23, FKBP5, SLC35D3, RGS17, KCNK17, FABP7, C6orf52, ADTRP, C6orf15, FAM83B, ATXN1, CCR6, POLR1C, GNMT, MLIP, FARS2, RNF217, TAF8, OR12D2, PRR18, KCTD20, TRS-TGA4-1, BMP6, MCM9, FAM120B, CGAS, H2BC11, TAPBP, CD83, PRSS35, FRMD1, CDC40, MAP3K7, RREB1, RING1, OFCC1, DDR1, ZBTB22, CSNK2B, H2AC14, MIR206, VARS2, NCR3, H2AC17, PPP1R10, RIMS1, THBS2, ZBTB12, SAMD5, REV3L, ULBP2, H3C6, RWDD2A, MYO6, OR11A1, TCF21, SLC26A8, ARMC12, VARS1, F13A1, KCNK16, SPATS1, LTV1, FAM162B, CMTR1, WDR46, TUBB, H1-4, LINC01621, C6orf62, ENPP3, TMEM30A, HLA-C, ZBED9, MRAP2, C4B, HEY2, CDKAL1, GRM1, ZKSCAN8, TIAM2, TREML4, ETV7, IYD, HLA-DQA1, EYA4, LPA, ZNF76, PSORS1C2, ANKRD66, KHDRBS2, RPS12, GSTA1, PLG, LYRM2, C6orf47, PRR3, RIOK1, VIP, KHDC1L, AFDN, BPHL, H1-1, HCP5, RNF182, TAAR9, BTN3A1, SRSF3, KIF6, BAK1, CARMIL1, PDCD2, CD109, ESR1, ECI2, PKHD1, C6orf136, LY6G6D, BRD2, FOXF2, MAS1, FBXO5, MED23, RSPH4A, SENP6, MAP3K4, SLC35F1, PRSS16, H4C2, SLC35B2, IBTK, FOXP4, LST1, ROS1, LY6G5C, ZNF318, CUL9, IRAK1BP1, AARS2, TRIM39, DEFB112, TAAR8, TULP4, TREML2, OR2B6, TMEM242, CRIP3, PNLDC1, HMGCLL1, RTN4IP1, HLA-DMB, CLPS, B3GAT2, VGLL2, PLEKHG1, GSTA2, H4C5, RXRB, RUNX2, GPRC6A, IL17A, HLA-DQB1, H2BC3, PPARD, GLP1R, KDM1B, MAP7, KIAA1586, H2BC5, IFNGR1, OOEP, TRAF3IP2, PHF10, ULBP1, DSP
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000608767
87.
GRCh37:
Chr6:60107-171054786
IBTK, ANKRD66, IRAK1BP1, IFNGR1, DYNLT2, AGPAT1, DEF6, COL9A1, POM121L2, METTL24, AGPAT4, H4C9, BCKDHB, H2BC17, POU5F1, MAPK14, RAB23, TIAM2, MYCT1, HLA-DMB, CDK19, FAM229B, PEX3, TCTE1, SCGN, PPARD, SMAP1, NKAIN2, TAAR1, VARS1, ESR1, USP49, ADGRG6, HACE1, BEND3, MBOAT1, BRPF3, BTN3A1, TMEM151B, LY6G5B, PBOV1, PEX7, CAPN11, MCM9, KLHDC3, RNF8, UBR2, NUP153, PHF1, KLHL32, EHMT2, ZNF322, GLP1R, PRDM13, SCML4, HLA-DPB1, H4C2, MRS2, MAK, IL22RA2, CGA, CDSN, GNMT, SAPCD1, ZNF165, ADTRP, ZSCAN23, RPS12, CUL9, FKBPL, TCP11, TAAR9, SMPD2, HMGN4, TREM1, MED20, ULBP3, COX7A2, PPP1R14C, SYNGAP1, HS3ST5, FILIP1, FOXQ1, LRRC1, RN7SK, HSPA1B, IL20RA, HLA-DOA, KHDC3L, DCBLD1, CTAGE9, NQO2, SPACA1, OARD1, RUNX2, TPD52L1, TNFRSF21, GRIK2, HSPA1A, LINC02901, PRPF4B, RIPK1, H4C13, PRSS16, PRL, MDN1, ENPP3, RWDD2A, MIR219A1, NEDD9, TULP4, SLC17A2, CRYBG1, BTN1A1, NHLRC1, LINC00951, RHAG, MIR133B, FABP7, CLPSL1, MDGA1, PACSIN1, CCNC, GRM1, XPO5, H1-4, SERPINB1, MRPS18B, FRS3, SYNCRIP, DACT2, POLR1C, FANCE, TPMT, ZBTB2, BNIP5, LINC02487, ASCC3, LINC01600, SLC17A3, GPSM3, ADAT2, SMPDL3A, AIRN, AARS2, BVES, CGAS, OOEP, BACH2, LGSN, POLH, ZC2HC1B, PAK1IP1, TRAPPC3L, MPC1, PSMB8, FOXF2, SLC17A5, AKAP12, ZSCAN16, MTRF1L, LCA5, GFRAL, AMD1, ELOVL4, LOC101926915, TAP2, HFE, TULP1, CITED2, POLR1H, C6orf62, TBC1D22B, GLO1, PRICKLE4, COL11A2, ULBP2, UNC93A, MAP3K5, TMEM200A, RANBP9, H4C7, GUCA1A, KLC4, NEU1, PACRG, COL21A1, SLC29A1, HDDC2, PFDN6, TMEM181, TRMT11, ETV7, GSTA3, HBS1L, DUSP22, H2AC7, ZKSCAN3, PNRC1, GFOD1, ECT2L, E2F3, STK19, EFHC1, TCF21, SUMO4, ZBTB24, PDSS2, VGLL2, SESN1, SYNE1, TRS-TGA2-1, EPB41L2, HMGA1, C6orf163, TOMM6, TREML1, ZSCAN26, ATXN1, OR2B3, MEA1, RGL2, ZNF318, LRFN2, TSTD3, RAB32, ATAT1, PHACTR2, TREML4, MTFR2, RNF217, HLA-C, CD83, MOXD1, LSM2, HLA-DQA2, MIR30A, BLOC1S5, HEY2, CD109, TFAP2A, BAK1, OGFRL1, SH3BGRL2, FUCA2, ARMC2, KCTD20, CEP57L1, KAAG1, DNAH8, SLC22A23, H3C6, AFDN, ALDH8A1, TAAR8, TEAD3, FAM83B, IL17A, ZNF391, SYTL3, SLC39A7, TUBB2B, H2AC12, MCM3, TMEM30A, TNF, CD2AP, SNHG32, ADGRF4, HTR1B, KCNK17, RPS18, ERVFRD-1, PERP, H2AC16, BAG6, TRDN, KHDC1, LIN28B, HDAC2, CFB, DSE, ARG1, BAG2, GPX6, H1-5, CPNE5, ALDH5A1, FBXO5, NOL7, ZBTB9, RIPPLY2, HLA-DRB5, ZBED9, TINAG, TAAR5, OPN5, GPR6, NFYA, MCUR1, CEP43, DHX16, CRISP2, TMEM14C, KIAA0408, BRD2, PRRC2A, SLC22A2, TPBG, RRAGD, PPP1R18, SENP6, SFTA2, GJB7, KIAA0319, H4C6, LINC01621, TRIM15, HINT3, HCRTR2, TRIM40, EXOC2, ZUP1, ARID1B, HIVEP1, H4C8, SNRNP48, LINC02539, SMOC2, DAAM2, RNF146, DEFB112, TUBE1, TAB2, PHACTR1, MICB, CALHM6, LTV1, RFPL4B, RING1, ZSCAN31, SLC22A16, DOP1A, OR2A4, RIOK1, USP45, TNFAIP3, FAM50B, SAYSD1, H2BC5, QKI, TRERF1, CENPQ, MYLIP, ABT1, OR5V1, CCND3, H3C2, C6orf52, HLA-DQB2, NKAPL, RSPH4A, ACAT2, H2BC1, ADGRF2, IPCEF1, PIM1, RNASET2, YIPF3, FKBP5, ZNF311, OR12D2, MAS1, C6orf136, GMDS, ERMARD, RNF182, TMEM244, CILK1, RNF217-AS1, PBX2, REPS1, PGBD1, NUP43, PPP1R11, EEF1E1, ZNF292, FNDC1, EZR, MIR206, PKIB, MUCL3, PDE10A, ANKRD6, H3C4, SEC63, FAM120B, SUPT3H, DLL1, AFG1L, GJA10, MAD2L1BP, LMBRD1, CMTR1, CCR6, KIF6, MAP3K7, ZFP57, SLC2A12, ELOVL2, HLA-DQA1, HCG26, B3GALT4, GCM1, SLC35B3, C6orf201, TTLL2, ACOT13, AKIRIN2, MICAL1, MTHFD1L, TRIM27, PNISR, PDE7B, TTK, PRKN, GTF2H5, SERPINB9, SMIM13, MRPS10, SOGA3, RPP40, VNN3, MRPL14, TMEM63B, SCUBE3, NUS1, PRDM1, SSR1, HULC, CDC40, PLA2G7, H2BC3, MLN, BMP6, KATNA1, SLC44A4, SPATS1, STXBP5, PHF10, TRAF3IP2-AS1, SNX14, NOTCH4, GSTA5, UNC5CL, COL10A1, SF3B5, FAM135A, F13A1, WRNIP1, SERAC1, PXDC1, SASH1, DDR1, GINM1, UHRF1BP1, CYP21A2, IYD, MPIG6B, C6orf58, GCLC, NOX3, FAM162B, SDHAF4, RAB44, MOG, AGER, H2AC4, HSF2, VWA7, DDX43, TSPYL1, HLA-DPA1, SLC17A1, FOXP4, LOC729681, GTF2H4, POPDC3, MMUT, PCMT1, PLG, IER3, UBD, BTN2A1, HLA-A, STX7, THEMIS, H4C5, RTN4IP1, DXO, MCCD1, ECHDC1, CEP162, SNORD50A, BYSL, MRPS18A, SOBP, RIMS1, PLEKHG1, LATS1, WASF1, NRM, C6orf118, PLAGL1, ENPP1, TAAR2, FBXL4, MTO1, ZDHHC14, TREML2, B3GAT2, TAGAP, MDC1, KHDRBS2, TRIM39-RPP21, GABRR1, NT5E, SYNE1-AS1, PPIL1, ELOVL5, PGM3, MANEA, LY6G6C, CCN2, SNHG5, EGFL8, GOPC, GPR31, H2AC17, HSP90AB1, TAPBP, C6orf226, KCNK5, RXRB, TTBK1, CCHCR1, CUL7, LHFPL5, LY86, H1-3, TRX-CAT1-2, PNLDC1, SPDEF, UST, MRPL2, PRR3, C6orf15, SLC35A1, ECI2, LY6G6F, MED23, HCG22, FYN, TRIM31, ATF6B, KIF13A, OR2H1, UQCC2, KCNK16, OR2J3, TRIM39, TUBB, TMEM14B, NHSL1, VNN1, HLA-F, NFKBIL1, SIRT5, ARMC12, PSORS1C1, AIF1, UBE3D, CAGE1, HLA-B, EPM2A, WDR46, SMIM29, CCN6, BTN3A2, TAAR6, BTN2A2, H2AC11, PPIL4, MTRES1, TREM2, H2AC8, TBPL1, PI16, CDKAL1, CLIC5, ABHD16A, H2BC15, SLC22A1, PSMB1, TCP1, TFAP2D, KIAA1586, TBXT, PNPLA1, CASP8AP2, OR2B2, UTRN, TRIM10, AKAP7, CNR1, MUC21, PXT1, TAP1, GJA1, C4B, SNAP91, H2BC8, LRP11, TSBP1, C6orf223, PGC, PEX6, MRPL18, TDP2, SERPINB6, NRSN1, FHL5, VARS2, RPL7L1, ARFGEF3, TRAM2, ZKSCAN8, GABRR2, OR2B6, PAQR8, EYS, ORC3, ZKSCAN4, IRF4, H2BC11, TMEM242, SRF, PRSS35, ENPP4, RSPH3, REV3L, PRPH2, TUBB2A, TBC1D32, RNF144B, OR2W1, MYB, TRA-TGC7-1, H3C7, H2BC9, PDCD2, H4C1, TMEM14A, SLC22A7, GTPBP2, PKHD1, KPNA5, HCP5, NRN1, OPRM1, PREP, PHF3, ME1, ID4, GPRC6A, ABCC10, MYO6, HEBP2, AIG1, H4C11, PTPRK, TMEM170B, MYLK4, KIF25, PHIP, LTB, HYMAI, DEFB110, FAM184A, GTF3C6, MRAP2, OR2H2, OFCC1, RAET1G, MAPK13, LYRM2, ZFAND3, H1-6, EPHA7, RNF5, VNN2, SRPK1, ABCF1, POU3F2, RSPO3, BCLAF1, ENPP5, L3MBTL3, SDIM1, DSP, SLC22A3, CENPW, H1-2, H4C3, H2BC12, TRX-CAT2-1, CCDC170, DEFB113, PSMB9, MAP3K4, APOM, EDN1, BTN3A3, SMIM8, MTCH1, LAMA4, H2BC6, DLK2, THBS2, ILRUN, CAP2, H2BC13, LOC101927189, FAM8A1, SIM1, TJAP1, PPIL6, NDUFAF4, ARMT1, GCNT2, MOCS1, FARS2, ADGB, PM20D2, BICRAL, CRIP3, LY6G5C, H2BC10, RPL10A, HLA-DRA, HTR1E, CALHM5, CRISP3, ADGRF5, C6orf132, CDYL, SYNJ2, H3C8, MAN1A1, ZSCAN9, OLIG3, MDFI, BMP5, LY6G6D, H2BC4, VPS52, ZC3H12D, SLC26A8, ZBTB22, AHI1, TSPYL4, H2AC14, SLC35B2, IP6K3, NR2E1, CALHM4, FBXO9, C6orf141, MCHR2, CD164, SFT2D1, NFKBIE, H2AC6, LPA, HMGN3, NUDT3, TSPO2, DDAH2, FAM217A, OR10C1, PTCHD4, FRMD1, SNRPC, HSD17B8, ANKS1A, SNX3, RBM24, NT5DC1, BTNL2, CFAP206, SNORD50B, FUT9, SMLR1, ROS1, SNX9, IMPG1, ZNF76, C2, KIFC1, KHDC1L, H2BC7, MLIP, ZBTB12, UFL1, MUC22, TFEB, CARMIL1, PPP1R10, RAET1E, NMBR, C4A, CLIC1, LTA, FAXC, WTAP, TRIM26, H3C10, RGS17, ASF1A, COQ3, AK9, PRR18, HCG17, H2AC1, IGF2R, FOXO3, SKIV2L, DPPA5, TRS-TGA4-1, SLC35D3, MMS22L, TNXB, OR11A1, MAS1L, HLA-G, PLN, SOD2, GABBR1, SHPRH, FLOT1, HLA-E, ZSCAN12, RMND1, TRAF3IP2, HECA, HLA-DOB, HUS1B, JARID2, H2BC14, NCR2, HDGFL1, TMEM217, CUTA, BEND6, SAMD5, TBP, CNKSR3, RPF2, DDX39B, MARCKS, TFAP2B, DNPH1, FBXO30, TCF19, H4C12, CLDN20, CYP39A1, CEP85L, PPP1R3G, CNPY3, PTCRA, MFSD4B, ULBP1, RRP36, CLVS2, H3C3, APOBEC2, LAMA2, LYRM4, STMND1, FRK, H2AC13, RWDD1, TDRD6, HSPA1L, TRIM38, GSTA1, EEF1A1, OR12D3, RAET1L, SOX4, DDO, GLYATL3, DEK, TBCC, OR2J2, VTA1, C6orf89, SLC17A4, CSNK2B, KCNQ5, NELFE, RIPOR2, RCAN2, SGK1, KLHL31, KU-MEL-3, SLC35F1, HLA-DRB1, OSTM1, TRS-AGA2-3, CDC5L, PPT2, RSPH9, GPANK1, MIR877, MICA, GSTA2, GNL1, RPS10, GPLD1, COL19A1, H2AC15, HLA-DMA, FIG4, FGD2, PPP2R5D, C6orf47, RNGTT, SLC18B1, NCR3, GUCA1B, WDR27, ITPR3, CLPSL2, HIVEP2, OR14J1, TXLNB, TFB1M, RARS2, BTBD9, C6orf120, HLA-DQB1, CCDC167, GPX5, PRRT1, IL17F, ARHGAP18, VEGFA, TBX18, CCDC28A, DYNLT1, CYB5R4, SYCP2L, EYA4, UBE2J1, GCM2, PGK2, SERINC1, HMGCLL1, VIP, H4C4, MEP1A, RREB1, ZNF451, H3C1, LRRC73, CRISP1, PSORS1C2, DTNBP1, DAXX, RNF39, GMPR, GSTA4, COL12A1, GMNN, TAF11, STK38, DEFB114, ATP6V1G2, TBC1D7, MAP7, H3C11, FOXC1, ADGRF1, TRR-TCG4-1, CDKN1A, RPS6KA2, SRSF12, H3C12, PTK7, ZNF184, SLC25A27, RPP21, CLPS, BPHL, NCOA7, ATG5, PSMG4, TAF8, STX11, RFX6, PTP4A1, SAMD3, SCAF8, MSH5, ERVH-3, LEMD2, SLC16A10, GPR63, ADGRB3, KDM1B, DCDC2, ABRACL, TENT5A, QRSL1, LST1, H1-1, GRM4, SRSF3
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000608764
88.
GRCh37:
Chr6:156975-170919482
GABBR1, GABRR1, CD2AP, CD83, CDC40, CDC5L, CDK19, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CENPW, CEP162, CEP43, CEP57L1, CEP85L, CFAP206, CFB, CGA, CGAS, CILK1, CITED2, CLDN20, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CLVS2, CMTR1, CNKSR3, CNPY3, CNR1, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CRYBG1, CYB5R4, CSNK2B, CTAGE9, CUL7, CUL9, CUTA, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDAH2, DDO, DEFB110, DDR1, DDX39B, DDX43, DEF6, DEFB112, DEFB113, DEFB114, DEK, DHX16, DLK2, DLL1, DNAH8, DNPH1, DOP1A, DPPA5, DSE, DSP, DTNBP1, DUSP22, DXO, DYNLT1, DYNLT2, E2F3, ECHDC1, ECI2, ECT2L, EDN1, EEF1A1, EEF1E1, EFHC1, EGFL8, EHMT2, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP3, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERMARD, ERVFRD-1, ERVH-3, ESR1, ETV7, EXOC2, EYA4, EYS, EZR, F13A1, FABP7, FAM120B, FAM135A, FAM162B, FAM184A, FAM217A, FAM229B, FAM50B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO30, FBXO5, FBXO9, FGD2, FHL5, FIG4, FILIP1, FKBP5, FKBPL, FLOT1, FNDC1, FOXC1, FOXF2, FOXO3, FOXP4, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, FYN, GABRR2, GCLC, GCM1, GCM2, GCNT2, GFOD1, GFRAL, GINM1, GJA1, GJA10, GJB7, GLO1, GLP1R, GLYATL3, GMDS, GMNN, GMPR, GNL1, GNMT, GOPC, GPANK1, GPLD1, GPR31, GPR6, GPR63, GPRC6A, GPSM3, GPX5, GPX6, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GTF2H4, GTF2H5, GTF3C6, GTPBP2, GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HACE1, HBS1L, HCG17, HCG22, HCG26, HCP5, HCRTR2, HDAC2, HDDC2, HDGFL1, HEBP2, HECA, HEY2, HFE, HINT3, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HS3ST5, HLA-G, HMGA1, HMGCLL1, HMGN3, HMGN4, HSD17B8, HSF2, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HTR1E, HULC, HUS1B, HYMAI, IBTK, ID4, IER3, IFNGR1, IGF2R, IL17A, IL17F, IL20RA, IL22RA2, ILRUN, IMPG1, IP6K3, IPCEF1, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KAAG1, KATNA1, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KDM1B, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1586, KIF13A, KIF25, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, KLHL32, KPNA5, KU-MEL-3, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LEMD2, LGSN, LHFPL5, LIN28B, LINC00951, LINC01600, LINC01621, LINC02487, LINC02539, LINC02901, LMBRD1, LOC101926915, LOC101927189, LOC729681, LPA, LRFN2, LRP11, LRRC1, LRRC73, LSM2, LST1, LTA, LTB, LTV1, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY86, LYRM2, LYRM4, MAD2L1BP, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP3K7, MAP7, MAPK13, MAPK14, MARCKS, MAS1, MAS1L, MBOAT1, MCCD1, MCHR2, MCM3, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, ME1, MEA1, MED20, MED23, MEP1A, METTL24, MFSD4B, MICA, MICAL1, MICB, MIR133B, MIR206, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMS22L, MMUT, MOCS1, MOG, MOXD1, MPC1, MPIG6B, MRAP2, MRPL14, MRPL18, MRPL2, MRPS10, MRPS18A, MRPS18B, MRS2, MTRES1, MSH5, MTCH1, MTFR2, MTHFD1L, MTO1, MTRF1L, MUC21, MUC22, MUCL3, MYB, MYCT1, MYLIP, MYLK4, MYO6, NCOA7, NCR2, NCR3, NDUFAF4, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NHSL1, NKAIN2, NKAPL, NMBR, NOL7, NOTCH4, NOX3, NQO2, NR2E1, NRM, NRN1, NRSN1, NT5DC1, NT5E, NUDT3, NUP153, NUP43, NUS1, OARD1, OFCC1, OGFRL1, OLIG3, OOEP, OPN5, OPRM1, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2A4, OR2B2, OR2B3, OR2B6, OR2H1, OR2H2, PAQR8, OR2J2, OR2J3, OR2W1, OR5V1, ORC3, OSTM1, PACRG, PACSIN1, PAK1IP1, PBOV1, PBX2, PCMT1, PDCD2, PDE10A, PDE7B, PDSS2, PERP, PEX3, PEX6, PEX7, PFDN6, PGBD1, PGC, PGK2, PGM3, PHACTR1, PHACTR2, PHF1, PHF10, PHF3, PHIP, PI16, PIM1, PKHD1, PKIB, PLA2G7, PLAGL1, PLEKHG1, PLG, PLN, PM20D2, PNISR, PNLDC1, PNPLA1, PNRC1, POLH, POLR1C, POLR1H, POM121L2, POPDC3, POU3F2, POU5F1, PPARD, PPIL1, PPIL4, PPIL6, PPP1R10, PPP1R11, PPP1R14C, PPP1R18, PPP1R3G, PPP2R5D, PPT2, PRDM1, PRDM13, PREP, PRICKLE4, PRKN, PRL, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRRT1, PRSS16, PRSS35, PSMB1, PSMB8, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTP4A1, PTPRK, PXDC1, PXT1, QKI, QRSL1, RAB23, RAB32, RAB44, RAET1E, RAET1G, RAET1L, RANBP9, RARS2, RBM24, RCAN2, REPS1, REV3L, RFPL4B, RFX6, RGL2, RGS17, RHAG, RIMS1, RING1, RIOK1, RIPK1, RIPOR2, RIPPLY2, RMND1, RN7SK, RNASET2, RNF144B, RNF146, RNF182, RNF217, RNF217-AS1, RNF39, RPL10A, RNF5, RNF8, RNGTT, ROS1, RPF2, RPL7L1, RPP21, RPP40, RPS10, RPS12, RPS18, RPS6KA2, RRAGD, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RTN4IP1, RUNX2, RWDD1, RWDD2A, RXRB, SAMD3, SAMD5, SAPCD1, SASH1, SAYSD1, SCAF8, SCGN, SCML4, SCUBE3, SDHAF4, SDIM1, SEC63, SENP6, SERAC1, SERINC1, SERPINB1, SERPINB6, SERPINB9, SESN1, SF3B5, SFT2D1, SFTA2, SGK1, SH3BGRL2, SHPRH, SIM1, SIRT5, SKIV2L, SLC16A10, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC18B1, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC2A12, SLC35A1, SLC35B2, SLC35B3, SLC35D3, SLC35F1, SLC39A7, SLC44A4, SMAP1, SMIM13, SMIM29, SMIM8, SMLR1, SMOC2, SMPD2, SMPDL3A, SNAP91, SNHG32, SNHG5, SNORD50A, SNORD50B, SNRNP48, SNRPC, SNX14, SNX3, SNX9, SOBP, SOD2, SOGA3, SOX4, SPACA1, SPATS1, SPDEF, SRF, SRPK1, SRSF12, SRSF3, SSR1, STK19, STK38, STMND1, STX11, STX7, STXBP5, SUMO4, SUPT3H, SYCP2L, SYNCRIP, SYNE1, SYNE1-AS1, SYNGAP1, SYNJ2, SYTL3, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TAB2, TAF11, TAF8, TAGAP, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBCC, TBP, TBPL1, TBX18, TBXT, TDP2, TCF19, TCF21, TCP1, TCP11, TCTE1, TDRD6, TEAD3, TENT5A, TFAP2A, TFAP2B, TFAP2D, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM14A, TMEM14B, TMEM14C, TMEM151B, TMEM170B, TMEM181, TMEM200A, TMEM217, TMEM242, TMEM244, TMEM30A, TMEM63B, TNF, TNFAIP3, TNFRSF21, TRDN, TNXB, TOMM6, TPBG, TPD52L1, TPMT, TRA-TGC7-1, TRAF3IP2, TRAF3IP2-AS1, TRAM2, TRAPPC3L, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM38, TRMT11, TRIM39, TRIM39-RPP21, TRIM40, TRR-TCG4-1, TRS-AGA2-3, TRS-TGA2-1, TRS-TGA4-1, TRX-CAT1-2, TRX-CAT2-1, TSBP1, TSPO2, TSPYL1, TSPYL4, TSTD3, TTBK1, TTK, TTLL2, TUBB, TUBB2A, TUBB2B, TUBE1, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBE3D, UBR2, UFL1, UHRF1BP1, ULBP1, ULBP2, ULBP3, UNC5CL, UNC93A, UQCC2, USP45, USP49, UST, UTRN, VARS1, VARS2, VEGFA, VGLL2, VIP, VNN1, VNN2, VNN3, VPS52, VTA1, VWA7, WASF1, WDR27, WDR46, WRNIP1, WTAP, XPO5, YIPF3, ZBED9, ZBTB12, ZBTB2, ZBTB22, ZBTB24, ZBTB9, ZC2HC1B, ZC3H12D, ZDHHC14, ZFAND3, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF292, ZNF311, ZNF318, ZNF322, ZNF391, ZNF451, ZNF76, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, ZUP1, AARS2, ABCC10, ABCF1, ABHD16A, ABRACL, ABT1, ACAT2, ACOT13, ADAT2, ADGB, ADGRB3, ADGRF1, ADGRF2, ADGRF4, ADGRF5, ADGRG6, ADTRP, AFDN, AFG1L, AKIRIN2, AGER, AGPAT1, AGPAT4, AHI1, AIF1, AIG1, AIRN, AK9, AKAP12, AKAP7, ALDH5A1, ALDH8A1, AMD1, ANKRD6, ANKRD66, ANKS1A, APOBEC2, APOM, ARFGEF3, ARG1, ARHGAP18, ARID1B, ARMC12, ARMC2, ARMT1, ASCC3, ASF1A, ATAT1, ATF6B, ATG5, ATP6V1G2, ATXN1, B3GALT4, B3GAT2, BACH2, BAG2, BAG6, BAK1, BCKDHB, BCLAF1, BEND3, BEND6, BICRAL, BLOC1S5, BMP5, BMP6, BNIP5, BPHL, BRD2, BRPF3, BTBD9, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, C4A, BTNL2, BVES, BYSL, C2, C4B, C6orf118, C6orf120, C6orf132, C6orf136, C6orf141, C6orf15, C6orf163, C6orf201, C6orf223, C6orf226, C6orf47, C6orf52, C6orf58, C6orf62, C6orf89, CAGE1, CALHM4, CALHM5, CALHM6, CAP2, CAPN11, CARMIL1, CASP8AP2, CCDC167, CCDC170, CCDC28A, CD109, CCHCR1, CCN2, CCN6, CCNC, CCND3, CCR6, CD164
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000443497
89.
GRCh37:
Chr6:156975-170919482
CYP21A2, CYP39A1, C4A, C4B, C6orf118, C6orf120, C6orf132, C6orf136, C6orf141, C6orf15, C6orf163, C6orf201, C6orf223, C6orf226, C6orf47, C6orf52, C6orf58, C6orf62, C6orf89, CAGE1, CALHM4, CALHM5, CALHM6, CAP2, CAPN11, CARMIL1, CASP8AP2, CCDC167, CCDC170, CCDC28A, CCHCR1, CCN2, CCN6, CCNC, CCND3, CCR6, CD109, CD164, CD2AP, CD83, CDC40, CDC5L, CDK19, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CENPW, CEP162, CEP43, CEP57L1, CEP85L, CFAP206, CFB, CGA, CGAS, CILK1, CITED2, CLDN20, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CLVS2, CMTR1, CNKSR3, CNPY3, CNR1, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CRYBG1, CSNK2B, CTAGE9, CUL7, CUL9, CUTA, CYB5R4, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDAH2, DDO, DDR1, DDX39B, DDX43, DEF6, DEFB110, DEFB112, DEFB113, DEFB114, DEK, DHX16, DLK2, DLL1, DNAH8, DNPH1, DOP1A, DPPA5, DSE, DSP, DTNBP1, DUSP22, DXO, DYNLT1, DYNLT2, E2F3, ECHDC1, ECI2, ECT2L, EDN1, EEF1A1, EEF1E1, EFHC1, EGFL8, EHMT2, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP3, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERMARD, ERVFRD-1, ERVH-3, ESR1, ETV7, EXOC2, EYA4, EYS, EZR, F13A1, FABP7, FAM120B, FAM135A, FAM162B, FAM184A, FAM217A, FAM229B, FAM50B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO30, FBXO5, FBXO9, FGD2, FHL5, FIG4, FILIP1, FKBP5, FKBPL, FOXP4, FLOT1, FNDC1, FOXC1, FOXF2, FOXO3, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, FYN, GABBR1, GABRR1, GABRR2, GCLC, GCM1, GCM2, GCNT2, GFOD1, GFRAL, GINM1, GJA1, GJA10, GJB7, GLO1, GLP1R, GLYATL3, GMDS, GMNN, GMPR, GNL1, GNMT, GOPC, GPANK1, GPLD1, GPR31, GPR6, GPR63, GPRC6A, GPSM3, GPX5, GPX6, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GTF2H4, GTF2H5, GTF3C6, GTPBP2, GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HACE1, HBS1L, HCG17, HCG22, HCG26, HCP5, HCRTR2, HDAC2, HDDC2, HDGFL1, HEBP2, HECA, HEY2, HFE, HINT3, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HS3ST5, HLA-G, HMGA1, HMGCLL1, HMGN3, HMGN4, HSD17B8, HSF2, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HTR1E, HULC, HUS1B, HYMAI, IBTK, ID4, IER3, IFNGR1, IGF2R, IL17A, IL17F, IL20RA, IL22RA2, ILRUN, IMPG1, IP6K3, IPCEF1, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KAAG1, KATNA1, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KDM1B, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1586, KIF13A, KIF25, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, KLHL32, KPNA5, KU-MEL-3, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LEMD2, LGSN, LHFPL5, LIN28B, LINC00951, LINC01600, LINC01621, LINC02487, LINC02539, LINC02901, LMBRD1, LOC101926915, LOC101927189, LOC729681, LPA, LRFN2, LRP11, LRRC1, LRRC73, LSM2, LST1, LTA, LTB, LTV1, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY86, LYRM2, LYRM4, MAD2L1BP, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP3K7, MAP7, MAPK13, MAPK14, MARCKS, MAS1, MAS1L, MBOAT1, MCCD1, MCHR2, MCM3, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, ME1, MEA1, MED20, MED23, MEP1A, METTL24, MFSD4B, MICA, MICAL1, MICB, MIR133B, MIR206, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMS22L, MMUT, MOCS1, MOG, MOXD1, MPC1, MRPS10, MPIG6B, MRAP2, MRPL14, MRPL18, MRPL2, MRPS18A, MRPS18B, MRS2, MSH5, MTCH1, MTFR2, MTHFD1L, MTO1, MTRES1, MTRF1L, MUC21, MUC22, MUCL3, MYB, MYCT1, MYLIP, MYLK4, MYO6, NCOA7, NCR2, NCR3, NDUFAF4, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NHSL1, NKAIN2, NKAPL, NMBR, NOL7, NOTCH4, NOX3, NQO2, NR2E1, NRM, NRN1, NRSN1, NT5DC1, NT5E, NUDT3, NUP153, NUP43, NUS1, OARD1, OFCC1, OGFRL1, OLIG3, OOEP, OPN5, OPRM1, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2A4, OR2B2, OR2B3, OR2B6, AARS2, ABCC10, ABCF1, ABHD16A, ABRACL, ABT1, ACAT2, ACOT13, ADAT2, ADGB, ADGRB3, ADGRF1,