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Items: 84

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:51371981
GRCh38:
Chr14:50905263
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr14:51372099
GRCh38:
Chr14:50905381
PYGLGlycogen storage disease, type VI, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr14:51372103
GRCh38:
Chr14:50905385
PYGLGlycogen storage disease, type VI, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr14:51372120
GRCh38:
Chr14:50905402
PYGLGlycogen storage disease, type VI, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr14:51372173
GRCh38:
Chr14:50905455
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr14:51372193
GRCh38:
Chr14:50905475
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
7.
GRCh37:
Chr14:51372238
GRCh38:
Chr14:50905520
PYGLGlycogen storage disease, type VI, not specifiedBenign
(Aug 3, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr14:51372283
GRCh38:
Chr14:50905565
PYGLnot specifiedLikely benigncriteria provided, single submitter
9.
GRCh37:
Chr14:51372289
GRCh38:
Chr14:50905571
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr14:51372315
GRCh38:
Chr14:50905597
PYGLnot specifiedBenigncriteria provided, single submitter
11.
GRCh37:
Chr14:51375636
GRCh38:
Chr14:50908918
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr14:51375700
GRCh38:
Chr14:50908982
PYGLnot specifiedLikely benigncriteria provided, single submitter
13.
GRCh37:
Chr14:51376579
GRCh38:
Chr14:50909861
PYGLnot specifiedLikely benigncriteria provided, single submitter
14.
GRCh37:
Chr14:51376678
GRCh38:
Chr14:50909960
PYGLGlycogen storage disease, type VI, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr14:51376748
GRCh38:
Chr14:50910030
PYGLGlycogen storage disease, type VIConflicting interpretations of pathogenicity
(Mar 18, 2016)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr14:51376766
GRCh38:
Chr14:50910048
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
17.
GRCh37:
Chr14:51376767
GRCh38:
Chr14:50910049
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
18.
GRCh37:
Chr14:51376773
GRCh38:
Chr14:50910055
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
19.
GRCh37:
Chr14:51376774
GRCh38:
Chr14:50910056
PYGLGlycogen storage disease, type VI, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr14:51378444-51378447
Chr14:51378448-51378453
GRCh38:
Chr14:50911726-50911729
Chr14:50911730-50911735
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
21.
GRCh37:
Chr14:51378470
GRCh38:
Chr14:50911752
PYGLGlycogen storage disease, type VIPathogenic
(Apr 6, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr14:51378497
GRCh38:
Chr14:50911779
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr14:51378517
GRCh38:
Chr14:50911799
PYGLGlycogen storage disease, type VI, not specifiedConflicting interpretations of pathogenicity
(Mar 13, 2017)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr14:51378522
GRCh38:
Chr14:50911804
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
25.
GRCh37:
Chr14:51378532
GRCh38:
Chr14:50911814
PYGLnot specifiedUncertain significance
(Mar 10, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr14:51378533
GRCh38:
Chr14:50911815
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr14:51378591
GRCh38:
Chr14:50911873
PYGLGlycogen storage disease, type VI, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr14:51378610
GRCh38:
Chr14:50911892
PYGLnot specifiedLikely benigncriteria provided, single submitter
29.
GRCh37:
Chr14:51378705
GRCh38:
Chr14:50911987
PYGLnot providedPathogenic
(Oct 2, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr14:51378873
GRCh38:
Chr14:50912155
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
31.
GRCh37:
Chr14:51378885
GRCh38:
Chr14:50912167
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr14:51378959
GRCh38:
Chr14:50912241
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr14:51378994
GRCh38:
Chr14:50912276
PYGLGlycogen storage disease, type VIPathogenic
(Apr 6, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr14:51379027
GRCh38:
Chr14:50912309
PYGLGlycogen storage disease, type VI, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr14:51379746
GRCh38:
Chr14:50913028
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
36.
GRCh37:
Chr14:51379831
GRCh38:
Chr14:50913113
PYGLnot specifiedLikely benigncriteria provided, single submitter
37.
GRCh37:
Chr14:51379863
GRCh38:
Chr14:50913145
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr14:51381454
GRCh38:
Chr14:50914736
PYGLnot specifiedUncertain significance
(Feb 8, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr14:51381466
GRCh38:
Chr14:50914748
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
40.
GRCh37:
Chr14:51382091
GRCh38:
Chr14:50915373
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
41.
GRCh37:
Chr14:51382183
GRCh38:
Chr14:50915465
PYGLnot specifiedLikely benigncriteria provided, single submitter
42.
GRCh37:
Chr14:51382586
GRCh38:
Chr14:50915868
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr14:51382587
GRCh38:
Chr14:50915869
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
44.
GRCh37:
Chr14:51382651
GRCh38:
Chr14:50915933
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
45.
GRCh37:
Chr14:51382663
GRCh38:
Chr14:50915945
PYGLnot specifiedLikely benigncriteria provided, single submitter
46.
GRCh37:
Chr14:51382695
GRCh38:
Chr14:50915977
PYGLGlycogen storage disease, type VI, not specifiedConflicting interpretations of pathogenicity
(Aug 1, 2017)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr14:51383432
GRCh38:
Chr14:50916714
PYGLGlycogen storage disease, type VI, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr14:51383436
GRCh38:
Chr14:50916718
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
49.
GRCh37:
Chr14:51383448
GRCh38:
Chr14:50916730
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr14:51383717
GRCh38:
Chr14:50916999
PYGLGlycogen storage disease, type VI, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr14:51387266
GRCh38:
Chr14:50920548
PYGLnot specifiedUncertain significance
(Oct 10, 2014)
criteria provided, single submitter
52.
GRCh37:
Chr14:51387281
GRCh38:
Chr14:50920563
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr14:51387354
GRCh38:
Chr14:50920636
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr14:51387372
GRCh38:
Chr14:50920654
PYGLnot specifiedLikely benigncriteria provided, single submitter
55.
GRCh37:
Chr14:51387658
GRCh38:
Chr14:50920940
PYGLnot specifiedBenigncriteria provided, single submitter
56.
GRCh37:
Chr14:51387748
GRCh38:
Chr14:50921030
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
57.
GRCh37:
Chr14:51387749
GRCh38:
Chr14:50921031
PYGLnot specifiedUncertain significance
(Dec 28, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr14:51387755
GRCh38:
Chr14:50921037
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr14:51387782
GRCh38:
Chr14:50921064
PYGLGlycogen storage disease, type VI, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr14:51390736
GRCh38:
Chr14:50924018
PYGLGlycogen storage disease, type VI, not specifiedConflicting interpretations of pathogenicity
(Jul 24, 2017)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr14:51390744
GRCh38:
Chr14:50924026
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr14:51390819
GRCh38:
Chr14:50924101
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
63.
GRCh37:
Chr14:51390840
GRCh38:
Chr14:50924122
PYGLnot specifiedBenigncriteria provided, single submitter
64.
GRCh37:
Chr14:51401819
GRCh38:
Chr14:50935101
PYGLGlycogen storage disease, type VI, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr14:51404444
GRCh38:
Chr14:50937726
PYGLnot specifiedUncertain significance
(Apr 17, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr14:51404519
GRCh38:
Chr14:50937801
PYGLGlycogen storage disease, type VIPathogenic
(May 17, 2011)
no assertion criteria provided
67.
GRCh37:
Chr14:51404589
GRCh38:
Chr14:50937871
PYGLnot specifiedBenigncriteria provided, single submitter
68.
GRCh37:
Chr14:51410946
GRCh38:
Chr14:50944228
PYGLnot specifiedBenign
(Apr 6, 2015)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr14:51410969
GRCh38:
Chr14:50944251
PYGLGlycogen storage disease, type VI, not specifiedBenign/Likely benign
(Jul 7, 2017)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr14:51411029
GRCh38:
Chr14:50944311
PYGLGlycogen storage disease, type VI, not specifiedBenign/Likely benign
(Mar 13, 2017)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr14:51411077-51411078
GRCh38:
Chr14:50944359-50944360
PYGLGlycogen storage disease, type VIPathogenic
(Nov 10, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr14:51411084
GRCh38:
Chr14:50944366
PYGLGlycogen storage disease, type VI, not specifiedConflicting interpretations of pathogenicity
(Dec 22, 2016)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr14:51411150
GRCh38:
Chr14:50944432
PYGLGlycogen storage disease, type VIUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr14:51411248
GRCh38:
Chr14:50944530
PYGLGlycogen storage disease, type VIBenign
(Jun 14, 2016)
criteria provided, single submitter
75.
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, ATP5S, 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
76.
GRCh37:
Chr14:50598842-52261074
See casesUncertain significanceno assertion criteria provided
77.
GRCh37:
Chr14:23164384-54733411
See casesPathogenicno assertion criteria provided
78.
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, ATP5S, 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
79.
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, ATP5S, 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, DIGIT, 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
80.
GRCh37:
Chr14:39665376-57181179
GRCh38:
Chr14:39196172-56714461
See casesLikely pathogenic
(Nov 26, 2012)
no assertion criteria provided
81.
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, ATP5S, 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, DIGIT, 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
82.
GRCh37:
Chr14:51180627-51421562
GRCh38:
Chr14:50713909-50954844
PYGL, NIN, ABHD12B, LOC105370489, LOC108281122See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
83.
GRCh37:
Chr14:50557868-52244043
GRCh38:
Chr14:50091150-51777325
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
84.
GRCh37:
Chr14:51057729-56753637
GRCh38:
Chr14:50591011-56286919
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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