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Items: 69

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:61111430
GRCh38:
Chr14:60644712
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr14:61111505
GRCh38:
Chr14:60644787
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr14:61111730-61111731
GRCh38:
Chr14:60645012-60645013
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr14:61111922
GRCh38:
Chr14:60645204
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr14:61111957
GRCh38:
Chr14:60645239
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr14:61111993
GRCh38:
Chr14:60645275
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr14:61112000
GRCh38:
Chr14:60645282
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr14:61112105-61112111
GRCh38:
Chr14:60645387-60645393
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr14:61112234
GRCh38:
Chr14:60645516
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr14:61112235-61112236
GRCh38:
Chr14:60645517-60645518
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr14:61112235
GRCh38:
Chr14:60645517
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantBenign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr14:61112246
GRCh38:
Chr14:60645528
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr14:61112265
GRCh38:
Chr14:60645547
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr14:61112399
GRCh38:
Chr14:60645681
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr14:61112420-61112423
GRCh38:
Chr14:60645702-60645705
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr14:61112558
GRCh38:
Chr14:60645840
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr14:61112597
GRCh38:
Chr14:60645879
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr14:61112630
GRCh38:
Chr14:60645912
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr14:61112667
GRCh38:
Chr14:60645949
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantBenign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr14:61112704
GRCh38:
Chr14:60645986
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr14:61112722-61112725
GRCh38:
Chr14:60646004-60646007
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr14:61112736
GRCh38:
Chr14:60646018
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantBenign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr14:61112840
GRCh38:
Chr14:60646122
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr14:61113034
GRCh38:
Chr14:60646316
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr14:61113110
GRCh38:
Chr14:60646392
SIX1not specifiedUncertain significance
(Sep 12, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr14:61113166
GRCh38:
Chr14:60646448
SIX1not providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr14:61113212
GRCh38:
Chr14:60646494
SIX1Branchiootic syndrome 3, Deafness, autosomal dominant 23Uncertain significance
(May 1, 2017)
criteria provided, single submitter
28.
GRCh37:
Chr14:61113278
GRCh38:
Chr14:60646560
SIX1Branchiootorenal Spectrum Disorders, not specified, Nonsyndromic Hearing Loss, Dominant
Likely benign
(Nov 7, 2017)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr14:61115347
GRCh38:
Chr14:60648629
SIX1Branchiootic syndrome 3Likely pathogenic
(Feb 1, 2015)
no assertion criteria provided
30.
GRCh37:
Chr14:61115360
GRCh38:
Chr14:60648642
SIX1not specifiedUncertain significance
(Jul 20, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr14:61115398
GRCh38:
Chr14:60648680
SIX1not specifiedUncertain significance
(Jul 21, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr14:61115421
GRCh38:
Chr14:60648703
SIX1not specifiedUncertain significance
(Jul 5, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr14:61115434
GRCh38:
Chr14:60648716
SIX1Branchiootic syndrome 3, Deafness, autosomal dominant 23Likely benign
(May 1, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr14:61115448
GRCh38:
Chr14:60648730
SIX1Branchiootic syndrome 3, Deafness, autosomal dominant 23Likely pathogenic
(Nov 16, 2015)
no assertion criteria provided
35.
GRCh37:
Chr14:61115506
GRCh38:
Chr14:60648788
SIX1not specifiedUncertain significance
(Oct 12, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr14:61115509-61115511
GRCh38:
Chr14:60648791-60648793
SIX1Branchiootic syndrome 3, Deafness, autosomal dominant 23Pathogenic
(Aug 27, 2009)
no assertion criteria provided
37.
GRCh37:
Chr14:61115522
GRCh38:
Chr14:60648804
SIX1Branchiootic syndrome 3, Deafness, autosomal dominant 23, Melnick-Fraser syndrome,
not provided
Pathogenic
(Sep 1, 2017)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr14:61115535
GRCh38:
Chr14:60648817
SIX1Deafness, autosomal dominant 23Pathogenic
(Sep 1, 2011)
no assertion criteria provided
39.
GRCh37:
Chr14:61115544
GRCh38:
Chr14:60648826
SIX1Branchiootic syndrome 3Pathogenic
(Nov 1, 2007)
no assertion criteria provided
40.
GRCh37:
Chr14:61115574
GRCh38:
Chr14:60648856
SIX1Melnick-Fraser syndromePathogenic
(Jun 20, 2013)
no assertion criteria provided
41.
GRCh37:
Chr14:61115578
GRCh38:
Chr14:60648860
SIX1not specifiedUncertain significance
(Oct 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr14:61115579
GRCh38:
Chr14:60648861
SIX1not providedPathogenic
(Mar 27, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr14:61115580
GRCh38:
Chr14:60648862
SIX1Branchiootic syndrome 3Pathogenic
(Aug 27, 2009)
no assertion criteria provided
44.
GRCh37:
Chr14:61115582
GRCh38:
Chr14:60648864
SIX1not specifiedUncertain significance
(Dec 5, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr14:61115591
GRCh38:
Chr14:60648873
SIX1Melnick-Fraser syndromePathogenic
(Jun 20, 2013)
no assertion criteria provided
46.
GRCh37:
Chr14:61115717
GRCh38:
Chr14:60648999
SIX1Branchiootic syndrome 3, Deafness, autosomal dominant 23, not provided
Uncertain significance
(Apr 17, 2018)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr14:61115728
GRCh38:
Chr14:60649010
SIX1Branchiootorenal Spectrum Disorders, not specified, Nonsyndromic Hearing Loss, Dominant
Likely benign
(Jan 6, 2018)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr14:61115746
GRCh38:
Chr14:60649028
SIX1Branchiootorenal Spectrum Disorders, not specified, Nonsyndromic Hearing Loss, Dominant
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr14:61115794
GRCh38:
Chr14:60649076
SIX1not specifiedLikely benign
(Jan 28, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr14:61115858
GRCh38:
Chr14:60649140
SIX1Melnick-Fraser syndromePathogenic
(Jun 20, 2013)
no assertion criteria provided
51.
GRCh37:
Chr14:61115921
GRCh38:
Chr14:60649203
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr14:61115991
GRCh38:
Chr14:60649273
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr14:61116028
GRCh38:
Chr14:60649310
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr14:61116044
GRCh38:
Chr14:60649326
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr14:61116068
GRCh38:
Chr14:60649350
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr14:61116091
GRCh38:
Chr14:60649373
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr14:61116092
GRCh38:
Chr14:60649374
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr14:61116120
GRCh38:
Chr14:60649402
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr14:61116162
GRCh38:
Chr14:60649444
SIX1Branchiootorenal Spectrum Disorders, Nonsyndromic Hearing Loss, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr14:20511673-107285437
SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, VRK1, WARS, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, AKAP6, AKAP5, SPTLC2, BAG5, ATP5MPL, CDC42BPB, TCL1B, RGS6, KIAA0391, SUSD6, KIAA0586, DLGAP5, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, ERG28, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX1, DAAM1, SAMD4A, TTLL5, TOGARAM1, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, TCL6, MLH3, DMAC2L, KCNH5, CIDEB, IGHV3-23, IGHD3-3, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1A, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, RTRAF, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, CCDC198, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, G2E3, FLVCR2, OSGEP, GPATCH2L, PPP4R3A, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNX4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, WDR25, VCPKMT, ZC2HC1C, RIOX1, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, DGLUCY, BBOF1, NUBPL, DCAF11, TMEM121, DDHD1, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, APOPT1, HHIPL1, JPH4, GON7, RNASE7, INSM2, RAB2B, AJUBA, STON2, ZFHX2, CIPC, RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, CARMIL3, PPP1R3E, PIP4P1, CHURC1, ELMSAN1, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, MIA2, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, CLBA1, PLD4, ADSSL1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4L1, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, RDH12, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, ARMH4, ABHD12B, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, MDGA2, SAMD15, NOP9, EML5, SPTSSA, ADCY4, LINC01599, RALGAPA1, SFTA3, FBXO33, NUDT14, SERPINA11, LINC01588, GPR137C, PROX2, ZDHHC22, TMED8, C14orf178, SNHG10, C14orf177, SLC25A47, TSSK4, FAM177A1, CEP170B, TEDC1, DHRS4L2, C14orf39, CCDC85C, TTC6, SERPINA9, RNASE10, VSX2, OR6S1, SLC35F4, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, TBPL2, TOMM20L, RTL1, TMEM179, OR4K17, OR4N5, OR11G2, OR11H4, RNASE9, OR5AU1, SERPINA2, HEATR4, PLEKHD1, C14orf180, MIR127, MIR134, MIR136, MIR203A, MIR208A, LINC00596, RNASE13, CCDC88C, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR380, MIR433, MIR431, MIR409, MIR410, MIR376B, MIR495, ACOT1, ACOT6, TMEM253, CBLN3, SYNDIG1L, RD3L, TEX22, MIR376A2, MIR487B, SNORD112, DHRS4L1, CCDC175, LOC730202, SNORD113-1, SNORD114-1, MIR208B, ZBTB42, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, CHURC1-FNTB, HIF1A-AS2, PTCSC3
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
61.
GRCh37:
Chr14:19794561-107234280
SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, VRK1, WARS, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, AKAP6, AKAP5, SPTLC2, BAG5, ATP5MPL, CDC42BPB, TCL1B, RGS6, KIAA0391, SUSD6, KIAA0586, DLGAP5, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, ERG28, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX1, DAAM1, SAMD4A, TTLL5, TOGARAM1, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, TCL6, MLH3, DMAC2L, KCNH5, CIDEB, IGHV3-23, IGHD3-3, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1A, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, RTRAF, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, CCDC198, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, G2E3, FLVCR2, OSGEP, GPATCH2L, PPP4R3A, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNX4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, OR4K5, OR11H2, WDR25, OR4K1, VCPKMT, ZC2HC1C, RIOX1, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, DGLUCY, BBOF1, NUBPL, DCAF11, TMEM121, DDHD1, OR4K15, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, APOPT1, HHIPL1, JPH4, GON7, RNASE7, INSM2, RAB2B, AJUBA, STON2, ZFHX2, CIPC, RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, CARMIL3, PPP1R3E, PIP4P1, CHURC1, ELMSAN1, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, MIA2, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, CLBA1, PLD4, ADSSL1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4K14, OR4L1, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, RDH12, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, ARMH4, ABHD12B, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, MDGA2, SAMD15, NOP9, EML5, SPTSSA, ADCY4, LINC01599, RALGAPA1, SFTA3, FBXO33, NUDT14, SERPINA11, LINC01588, GPR137C, PROX2, ZDHHC22, TMED8, C14orf178, SNHG10, C14orf177, SLC25A47, TSSK4, FAM177A1, CEP170B, TEDC1, DHRS4L2, C14orf39, CCDC85C, TTC6, SERPINA9, RNASE10, VSX2, OR6S1, SLC35F4, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, TBPL2, TOMM20L, RTL1, TMEM179, OR4N2, OR4K2, OR4K13, OR4K17, OR4N5, OR11G2, OR11H4, RNASE9, OR5AU1, SERPINA2, HEATR4, PLEKHD1, C14orf180, MIR127, MIR134, MIR136, MIR203A, MIR208A, LINC00596, RNASE13, CCDC88C, OR4Q3, OR4M1, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR380, MIR433, MIR431, MIR409, MIR410, MIR376B, MIR495, ACOT1, ACOT6, POTEM, TMEM253, CBLN3, SYNDIG1L, RD3L, TEX22, MIR376A2, MIR487B, SNORD112, DHRS4L1, CCDC175, LOC730202, SNORD113-1, SNORD114-1, MIR208B, ZBTB42, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, CHURC1-FNTB, HIF1A-AS2, PTCSC3
See casesPathogenicno assertion criteria provided
62.
GRCh37:
Chr14:61112483-61117448
SIX1See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr14:20511673-107285437
GRCh38:
Chr14:20043514-106877229
SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, MIA2, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TRAV6, TRD, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, VRK1, WARS, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, NRXN3, AKAP6, AKAP5, SPTLC2, BAG5, ATP5MPL, CDC42BPB, TCL1B, RGS6, KIAA0391, SUSD6, KIAA0586, DLGAP5, FAM30A, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, ERG28, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX1, DAAM1, SAMD4A, TTLL5, TOGARAM1, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, OR4E1, SNORD3P3, TCL6, MLH3, DMAC2L, KCNH5, CIDEB, IGHV7-81, IGHV6-1, IGHV5-10-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-30-2, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69-2, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, FOXN3-AS2, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1A, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, RTRAF, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, CCDC198, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, DHRS4-AS1, LINC00216, G2E3, FLVCR2, OSGEP, GPATCH2L, PPP4R3A, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, IGHV7-4-1, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNX4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, WDR25, OR6J1, VCPKMT, LINC00341, ZC2HC1C, RIOX1, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, DGLUCY, BBOF1, NUBPL, DCAF11, TMEM121, DDHD1, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, APOPT1, HHIPL1, JPH4, GON7, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, STON2, ZFHX2, CIPC, RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, CARMIL3, PPP1R3E, PIP4P1, CHURC1, ELMSAN1, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, MIA2, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, CLBA1, PLD4, ADSSL1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4L1, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, C14orf144, LINC00239, LINC00637, RDH12, LINC00618, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, ARMH4, FRMD6-AS1, ABHD12B, LOC145474, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, ACTN1-AS1, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, LINC00519, MDGA2, SAMD15, NOP9, EML5, SPTSSA, LINC00638, ADCY4, LINC01599, RALGAPA1, SFTA3, LOC254028, FBXO33, NUDT14, CCDC197, SERPINA11, LINC00639, LINC01588, LINC00640, GPR137C, PROX2, LINC02288, ZDHHC22, TMED8, C14orf178, LINC01148, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, LINC00641, TSSK4, FAM177A1, CEP170B, TEDC1, C14orf99, DHRS4L2, C14orf39, CCDC85C, ITPK1-AS1, TTC6, SNORD8, SNORD56B, SERPINA9, LINC00524, LINC00226, LINC00221, RNASE10, VSX2, OR6S1, SLC35F4, LRRC9, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, MIR381HG, PSMA3-AS1, TBPL2, LINC01551, TOMM20L, LINC01550, RTL1, TMEM179, OR4K17, OR4N5, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, SERPINA2, HEATR4, LINC00517, FLJ22447, PLEKHD1, FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR208A, MIR299, LINC00596, RNASE13, CCDC196, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, ACOT1, ACOT6, TMEM253, CBLN3, LINC02315, FUT8-AS1, LINC00520, LINC00643, SYNDIG1L, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORA79, SNORD9, SNORD112, MIR411, MIR624, MIR625, MIR654, MIR655, MIR656, DHRS4L1, LOC728755, CCDC175, LOC730202, LINC01220, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, TRY-GTA7-1, TRY-GTA5-4, SNORD127, SNORD126, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR208B, MIR889, LINC02324, LMLN2, ZBTB42, KTN1-AS1, LINC02291, SLC25A21-AS1, LINC00605, LINC02312, TRY-GTA5-5, TRP-TGG3-2, TRK-CTT1-1, TRA-AGC15-1, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRI-AAT5-4, TRP-TGG1-1, TRC-GCA8-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, LOC100288846, LOC100289511, MIR1247, MIR1185-1, MIR1185-2, MIR1260A, MIR1197, OTX2-AS1, MIR548H1, MIR3171, MIR1193, MIR4309, MIR3173, MIR4308, MIR4307, MIR548Y, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, LOC100506321, LOC100506358, LINC00871, LINC00648, LOC100506476, LINC02274, LOC100506499, VASH1-AS1, LINC02308, LINC02318, TUNAR, SNHG23, MEG9, LINC02314, LOC100507437, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, SYNJ2BP-COX16, CHURC1-FNTB, MIR4507, MIR4506, MIR4505, MIR203B, MIR4708, MIR4709, MIR151B, MIR4504, MIR4538, MIR4503, MIR4710, MIR4539, MIR4537, MIR4707, MIR4706, MIR2392, DIO2-AS1, HIF1A-AS1, HIF1A-AS2, MIR5195, MIR5694, MIR5580, MIR5586, FRMD6-AS2, PTCSC3, LINC00911, LOC100996664, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LINC02302, LOC101927418, LOC101927620, LOC101927690, LINC02322, LINC01303, LOC101928075, LOC101928123, LOC101928143, LOC101928504, LINC01467, LINC02301, LINC02328, LOC101928791, LOC101928909, LINC02287, LINC02292, LINC02325, SNHG24, LINC02285, LINC02280, LOC101929718, LINC02317, LINC00644, RNU6-7, RNU6-8, MIR6076, MIR6717, MIR6765, MIR7641-2, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR6764, MIR8071-2, IGHV2-70D, IGHV1-69D, IGHV3-64D, LINC02298, LOC102723604, LINC02284, LINC01500, LOC102723809, LOC102724153, LINC02289, LINC02311, LINC02305, LINC02316, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, LINC01269, SALRNA1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SEC23A-AS1, LINC02307, LOC105370473, LINC02303, LOC105370489, LINC02310, LINC02319, LINC02331, LOC105370526, LINC02290, LINC01629, LOC105370586, LINC02329, LINC02309, LINC02296, LINC02330, LOC105370619, LOC105370622, LINC02321, LINC02299, LINC02304, LINC02295, LINC02320, LINC02323, LINC00677, LOC105370687, LOC105370697, LOC105370708, LOC105378183, SNORA89, LOC106799836, LOC106799848, LOC106799849, LOC107372315, SNORA101B, LOC107882126, LBHD2, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, GSC-DT, LOC109433677, LOC109433679, SNORA79B, SNORD169, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112268140
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
64.
GRCh37:
Chr14:58120131-64560246
GRCh38:
Chr14:57653413-64093528
See casesPathogenic
(Sep 17, 2012)
no assertion criteria provided
65.
GRCh37:
Chr14:20619308-107263478
GRCh38:
Chr14:20151149-106855263
SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, MIA2, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TRAV6, TRD, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, TSHR, VRK1, WARS, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, NRXN3, AKAP6, AKAP5, SPTLC2, BAG5, ATP5MPL, CDC42BPB, TCL1B, RGS6, KIAA0391, SUSD6, KIAA0586, DLGAP5, FAM30A, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, ERG28, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX1, DAAM1, SAMD4A, TTLL5, TOGARAM1, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, OR4E1, SNORD3P3, TCL6, MLH3, DMAC2L, KCNH5, CIDEB, IGHV6-1, IGHV5-10-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-30-2, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69-2, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, FOXN3-AS2, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1A, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, RTRAF, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, CCDC198, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, DHRS4-AS1, LINC00216, G2E3, FLVCR2, OSGEP, GPATCH2L, PPP4R3A, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, IGHV7-4-1, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNX4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, WDR25, OR6J1, VCPKMT, LINC00341, ZC2HC1C, RIOX1, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, DGLUCY, BBOF1, NUBPL, DCAF11, TMEM121, DDHD1, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, APOPT1, HHIPL1, JPH4, GON7, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, STON2, ZFHX2, CIPC, RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, CARMIL3, PPP1R3E, PIP4P1, CHURC1, ELMSAN1, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, MIA2, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, CLBA1, PLD4, ADSSL1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, C14orf144, LINC00239, LINC00637, RDH12, LINC00618, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, ARMH4, FRMD6-AS1, ABHD12B, LOC145474, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, ACTN1-AS1, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, LINC00519, MDGA2, SAMD15, NOP9, EML5, SPTSSA, LINC00638, ADCY4, LINC01599, RALGAPA1, SFTA3, LOC254028, FBXO33, NUDT14, CCDC197, SERPINA11, LINC00639, LINC01588, LINC00640, GPR137C, PROX2, LINC02288, ZDHHC22, TMED8, C14orf178, LINC01148, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, LINC00641, TSSK4, FAM177A1, CEP170B, TEDC1, C14orf99, DHRS4L2, C14orf39, CCDC85C, ITPK1-AS1, TTC6, SNORD8, SNORD56B, SERPINA9, LINC00524, LINC00226, LINC00221, RNASE10, VSX2, OR6S1, SLC35F4, LRRC9, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, MIR381HG, PSMA3-AS1, TBPL2, LINC01551, TOMM20L, LINC01550, RTL1, TMEM179, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, SERPINA2, HEATR4, LINC00517, FLJ22447, PLEKHD1, FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR208A, MIR299, LINC00596, RNASE13, CCDC196, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, ACOT1, ACOT6, TMEM253, CBLN3, LINC02315, FUT8-AS1, LINC00520, LINC00643, SYNDIG1L, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORA79, SNORD9, SNORD112, MIR411, MIR624, MIR625, MIR654, MIR655, MIR656, DHRS4L1, LOC728755, CCDC175, LOC730202, LINC01220, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, TRY-GTA7-1, TRY-GTA5-4, SNORD127, SNORD126, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR208B, MIR889, LINC02324, LMLN2, ZBTB42, KTN1-AS1, LINC02291, SLC25A21-AS1, LINC00605, LINC02312, TRY-GTA5-5, TRP-TGG3-2, TRK-CTT1-1, TRA-AGC15-1, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRI-AAT5-4, TRP-TGG1-1, TRC-GCA8-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, LOC100288846, LOC100289511, MIR1247, MIR1185-1, MIR1185-2, MIR1260A, MIR1197, OTX2-AS1, MIR548H1, MIR3171, MIR1193, MIR4309, MIR3173, MIR4308, MIR4307, MIR548Y, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, LOC100506321, LOC100506358, LINC00871, LINC00648, LOC100506476, LINC02274, LOC100506499, VASH1-AS1, LINC02308, LINC02318, TUNAR, SNHG23, MEG9, LINC02314, LOC100507437, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, SYNJ2BP-COX16, CHURC1-FNTB, MIR4507, MIR4506, MIR4505, MIR203B, MIR4708, MIR4709, MIR151B, MIR4504, MIR4538, MIR4503, MIR4710, MIR4539, MIR4537, MIR4707, MIR4706, MIR2392, DIO2-AS1, HIF1A-AS1, HIF1A-AS2, MIR5195, MIR5694, MIR5580, MIR5586, FRMD6-AS2, PTCSC3, LINC00911, LOC100996664, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LINC02302, LOC101927418, LOC101927620, LOC101927690, LINC02322, LINC01303, LOC101928075, LOC101928123, LOC101928143, LOC101928504, LINC01467, LINC02301, LINC02328, LOC101928791, LOC101928909, LINC02287, LINC02292, LINC02325, SNHG24, LINC02285, LINC02280, LOC101929718, LINC02317, LINC00644, RNU6-7, RNU6-8, MIR6076, MIR6717, MIR6765, MIR7641-2, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR6764, MIR8071-2, IGHV2-70D, IGHV1-69D, IGHV3-64D, LINC02298, LOC102723604, LINC02284, LINC01500, LOC102723809, LOC102724153, LINC02289, LINC02311, LINC02305, LINC02316, LOC102724814, LINC00596, LINC02293, LINC02327, LINC02588, FOXG1-AS1, LINC01269, SALRNA1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SEC23A-AS1, LINC02307, LOC105370473, LINC02303, LOC105370489, LINC02310, LINC02319, LINC02331, LOC105370526, LINC02290, LINC01629, LOC105370586, LINC02329, LINC02309, LINC02296, LINC02330, LOC105370619, LOC105370622, LINC02321, LINC02299, LINC02304, LINC02295, LINC02320, LINC02323, LINC00677, LOC105370687, LOC105370697, LOC105370708, LOC105378183, SNORA89, LOC106799836, LOC106799848, LOC106799849, LOC107372315, SNORA101B, LOC107882126, LBHD2, LOC107984703, LOC108228206, LOC108251794, LOC108281111, LOC108281122, LOC108281128, LOC108281166, LOC108348026, LOC108663987, GSC-DT, LOC109433677, LOC109433679, SNORA79B, SNORD169, LOC110120856, LOC110120857, LOC110120874, LOC110120876, LOC110120895, LOC110120901, LOC110120902, LOC110120904, LOC110120910, LOC110120925, LOC110121319, LOC110121324, LOC110121325, LOC110121326, LOC110121327, LOC110121333, LOC110121354, LOC110121358, LOC110121362, LOC110121372, LOC110121376, LOC110121377, LOC110121391, LOC110121392, LOC110121404, LOC110121407, LOC110121412, LOC110121414, LOC110121422, LOC110121424, LOC110121431, LOC110121433, LOC110121447, LOC110121459, LOC110121463, LOC110121490, LOC110121504, LOC111365186, LOC111365187, LOC111365188, LOC111365217, LOC111365221, LOC111413013, LOC111413016, LOC111413041, LOC111500315, LOC111556149, LOC111591503, LOC111721711, LOC111811966, LOC111822947, LOC112268140
See casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
66.
GRCh37:
Chr14:60867727-61328704
GRCh38:
Chr14:60401009-60861986
MNAT1, SIX6, SIX1, SIX4, C14orf39, SALRNA1, LOC110121407See casesUncertain significance
(May 27, 2010)
no assertion criteria provided
67.
GRCh37:
Chr14:58612740-61740337
GRCh38:
Chr14:58146022-61273619
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
68.
GRCh37:
Chr14:57507754-67674948
GRCh38:
Chr14:57041036-67208231
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
69.
GRCh37:
Chr14:60383769-67217521
GRCh38:
Chr14:59917051-66750803
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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