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Items: 1 to 100 of 143

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:14143875
GRCh38:
Chr5:14143766
TRIOnot providedUncertain significance
(Apr 25, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr5:14290918
GRCh38:
Chr5:14290809
TRIOMental retardation, autosomal dominant 44Pathogenic
(Nov 10, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr5:14290933
GRCh38:
Chr5:14290824
TRIOMental retardation, autosomal dominant 44Pathogenic
(Mar 27, 2017)
no assertion criteria provided
4.
GRCh37:
Chr5:14316838
GRCh38:
Chr5:14316729
TRIOnot providedLikely pathogenic
(Oct 31, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr5:14330869
GRCh38:
Chr5:14330760
TRIOnot providedLikely benign
(Apr 19, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr5:14336721
GRCh38:
Chr5:14336612
TRIOInborn genetic diseasesUncertain significance
(May 25, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr5:14359551
GRCh38:
Chr5:14359442
TRIOInborn genetic diseasesPathogenic
(Apr 20, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr5:14359576-14359605
GRCh38:
Chr5:14359467-14359496
TRIOMental retardation, autosomal dominant 44Uncertain significance
(May 15, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr5:14359608
GRCh38:
Chr5:14359499
TRIOnot provided, Inborn genetic diseasesPathogenic
(Oct 19, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr5:14364747
GRCh38:
Chr5:14364638
TRIOnot providedLikely benign
(Jun 29, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr5:14364807
GRCh38:
Chr5:14364698
TRIOnot providedUncertain significance
(Oct 9, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr5:14368929
GRCh38:
Chr5:14368820
TRIOnot providedPathogenic
(Jul 28, 2016)
no assertion criteria provided
13.
GRCh37:
Chr5:14369535
GRCh38:
Chr5:14369426
TRIOInborn genetic diseasesPathogenic
(Jan 8, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr5:14374353
GRCh38:
Chr5:14374244
TRIODeafness, autosomal recessive 28, not provided, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(May 3, 2018)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr5:14374360
GRCh38:
Chr5:14374251
TRIOMental retardation, autosomal dominant 44Pathogenic
(Mar 27, 2017)
no assertion criteria provided
16.
GRCh37:
Chr5:14374383
GRCh38:
Chr5:14374274
TRIOnot providedPathogenic
(Mar 15, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr5:14381370
GRCh38:
Chr5:14381261
TRIOnot providedLikely benign
(Jun 5, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr5:14387633
GRCh38:
Chr5:14387524
TRIOnot providedLikely pathogenic
(Feb 1, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr5:14387728
GRCh38:
Chr5:14387619
TRIOMental retardation, autosomal dominant 44Pathogenic
(Mar 27, 2017)
no assertion criteria provided
20.
GRCh37:
Chr5:14390409
GRCh38:
Chr5:14390300
TRIOMental retardation, autosomal dominant 44Pathogenic
(Mar 27, 2017)
no assertion criteria provided
21.
GRCh37:
Chr5:14394211
GRCh38:
Chr5:14394102
TRIOMental retardation, autosomal dominant 44Pathogenic
(Sep 28, 2017)
no assertion criteria provided
22.
GRCh37:
Chr5:14397221
GRCh38:
Chr5:14397112
TRIOMental retardation, autosomal dominant 44Pathogenic
(Mar 27, 2017)
no assertion criteria provided
23.
GRCh37:
Chr5:14397246
GRCh38:
Chr5:14397137
TRIOnot providedPathogenic
(Jul 20, 2017)
no assertion criteria provided
24.
GRCh37:
Chr5:14399031
GRCh38:
Chr5:14398922
TRIOMental retardation, autosomal dominant 44Pathogenic
(Mar 27, 2017)
no assertion criteria provided
25.
GRCh37:
Chr5:14399136
GRCh38:
Chr5:14399027
TRIOInborn genetic diseasesUncertain significance
(Aug 5, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr5:14461252
GRCh38:
Chr5:14461143
TRIOnot providedPathogenic
(Jun 18, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr5:14462954
GRCh38:
Chr5:14462845
TRIOInborn genetic diseasesUncertain significance
(Oct 21, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr5:14479373
GRCh38:
Chr5:14479264
TRIOnot providedLikely pathogenic
(Jan 27, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr5:14480098
GRCh38:
Chr5:14479989
TRIOnot providedUncertain significance
(May 18, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr5:14481674
GRCh38:
Chr5:14481565
TRIOnot providedUncertain significance
(Sep 30, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr5:14485235
GRCh38:
Chr5:14485126
TRIOnot providedUncertain significance
(May 19, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr5:14485341
GRCh38:
Chr5:14485232
TRIOnot providedUncertain significance
(May 18, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr5:14488071
GRCh38:
Chr5:14487962
TRIOInborn genetic diseasesUncertain significance
(Oct 24, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr5:14488073
GRCh38:
Chr5:14487964
TRIOInborn genetic diseasesUncertain significance
(May 18, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr5:14488094
GRCh38:
Chr5:14487985
TRIOnot providedUncertain significance
(Jun 6, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr5:14488128
GRCh38:
Chr5:14488019
TRIOnot providedBenign
(Jul 28, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr5:14488162
GRCh38:
Chr5:14488053
TRIOnot providedUncertain significance
(Apr 14, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr5:14497963
GRCh38:
Chr5:14497854
TRIOnot specifiedLikely benign
(Oct 18, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr5:14498000
GRCh38:
Chr5:14497891
TRIOnot providedLikely benign
(Apr 19, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr5:14498704
GRCh38:
Chr5:14498595
TRIOnot providedUncertain significance
(Aug 14, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr5:14498710-14498711
GRCh38:
Chr5:14498601-14498602
TRIOnot providedLikely pathogenic
(Mar 7, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr5:14504533
GRCh38:
Chr5:14504424
TRIOInborn genetic diseasesUncertain significance
(Jun 15, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr5:14508061
GRCh38:
Chr5:14507952
TRIOnot providedUncertain significance
(Mar 15, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr5:14508347
GRCh38:
Chr5:14508238
TRIOnot providedLikely benign
(Jun 5, 2017)
criteria provided, single submitter
45.
GRCh37:
Chr5:140474-26906925
5p partial monosomy syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr5:14143512-14145204
TRIOnot providedBenign
(Nov 9, 2010)
no assertion criteria provided
47.
GRCh37:
Chr5:14138248-14159211
TRIOnot providedBenign
(Nov 3, 2011)
no assertion criteria provided
48.
GRCh37:
Chr5:14138248-14157376
TRIOnot providedBenign
(Aug 13, 2012)
no assertion criteria provided
49.
GRCh37:
Chr5:14138248-14145204
TRIOnot providedBenign
(Dec 1, 2011)
no assertion criteria provided
50.
GRCh37:
Chr5:14129271-14145204
TRIOnot providedBenign
(Dec 14, 2011)
no assertion criteria provided
51.
GRCh37:
Chr5:13798559-14182550
DNAH5, TRIOnot providedBenign
(Sep 23, 2010)
no assertion criteria provided
52.
GRCh37:
Chr5:13792141-14177667
DNAH5, TRIOnot providedBenign
(May 26, 2015)
no assertion criteria provided
53.
GRCh37:
Chr5:13788886-14206537
DNAH5, TRIOnot providedBenign
(Aug 2, 2013)
no assertion criteria provided
54.
GRCh37:
Chr5:13788886-14188019
DNAH5, TRIOnot providedBenign
(May 29, 2014)
no assertion criteria provided
55.
GRCh37:
Chr5:25328-180693344
ADCY2, ADRA1B, ADRB2, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, C6, C7, C9, CAMK4, CAMK2A, CAMLG, CANX, CAST, CCNB1, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, DIAPH1, DNAH5, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, F2RL1, F2RL2, F12, FABP6, FAT2, FBN2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, FLT4, FYB1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GDNF, GFRA3, GHR, GLRA1, GLRX, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, GTF2H2, GZMA, GZMK, HARS, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR1A, HTR4, IK, IL3, IL4, IL5, IL6ST, IL7R, IL9, IL12B, IL13, IRF1, ISL1, ITGA1, ITGA2, ITK, KCNMB1, KCNN2, KIF2A, TNPO1, LCP2, LECT2, LIFR, LMNB1, LNPEP, LOX, LTC4S, CD180, SMAD5, MAN2A1, MAP1B, MCC, MEF2C, MAP3K1, MFAP3, MGAT1, MOCS2, MSH3, MSX2, MTRR, MYO10, NAIP, NDUFA2, NDUFS4, NDUFS6, NEUROG1, NPM1, NPR3, OXCT1, PAM, PCDH1, PCDHGC3, PCSK1, PDE4D, PDE6A, PDGFRB, PFDN1, PGGT1B, PIK3R1, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PRKAA1, MAPK9, PRLR, PROP1, PTGER4, RAD1, PURA, RAD17, RARS, RASA1, RASGRF2, RPL37, RPS14, RPS23, SDHA, SELENOP, SGCD, SKP1, SKP2, SLC1A3, SLC6A3, SLC6A7, SLC9A3, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SMN1, SMN2, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRD5A1, SRP19, STK10, TAF7, TAF9, TARS, TBCA, TCF7, ZNF354A, TCOF1, TERT, NR2F1, TGFBI, THBS4, TRIO, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, XRCC4, ZNF131, ST8SIA4, REEP5, SERF1A, NME5, ENC1, AP3B1, PDLIM4, PLPP1, STC2, PDE8B, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, SQSTM1, P4HA2, HSPB3, ATP6V0E1, SEMA5A, ATG12, OSMR, PTTG1, PDLIM7, NREP, TRIP13, CNOT8, HAND1, MED7, HOMER1, MYOT, ADAMTS2, SCAMP1, NRG2, CXCL14, H2AFY, RNF14, CARTPT, SNCAIP, NUP155, TTC37, CLINT1, PCDHGA8, PCDHA9, ZFYVE16, MATR3, MAML1, DELE1, JAKMIP2, PJA2, DDX46, GFPT2, SLC23A1, GNPDA1, SRA1, PDCD6, EDIL3, COL4A3BP, RAD50, KIF20A, G3BP1, LHFPL2, CWC27, MARCH6, APBB3, CCNO, TNIP1, RACK1, BASP1, NSA2, FST, SLU7, PAIP1, POLR3G, RGS14, SLC12A7, PLK2, IQGAP2, SEC24A, CPLX2, FAXDC2, FAM114A2, MRPS30, BRD8, TCERG1, BTNL3, SUB1, HNRNPA0, LMAN2, SPINK5, TENT4A, SOX30, TPPP, ESM1, KIF3A, ADAMTS6, MGAT4B, B4GALT7, EXOC3, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, CCT5, SV2C, HMGXB3, PDZD2, TBC1D9B, ARHGAP26, FSTL4, MRPS27, ATP10B, N4BP3, SEPTIN8, FBXL7, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, ICE1, PPWD1, HARS2, OTP, MTREX, NNT, TTC33, ZNF346, AMACR, SSBP2, BHMT2, TNFAIP8, NIPBL, PART1, GEMIN5, PCDHGA12, LRRTM2, FAM169A, RAI14, CCDC69, PCDHB5, KLHL3, TSPAN17, FBXO4, OR2V1, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, DIMT1, MAT2B, SLC27A6, SNX24, MRPL22, DROSHA, PCDHB1, DMGDH, TLX3, KCNIP1, ZNF354C, IRX4, TAS2R1, TMED7, ISOC1, RPL26L1, SAR1B, MRNIP, SLC45A2, DCTN4, IPO11, MZB1, PAIP2, CDKL3, RXFP3, PCDH12, GCNT4, FAM13B, FAM53C, REEP2, PRR16, COMMD10, POLK, DDX41, NOP16, LARS, CXXC5, ZFR, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, RAB24, PELO, RBM27, RETREG1, OTULINL, NEURL1B, DHX29, DDX4, FAM193B, MTMR12, SGTB, ARL15, TMED9, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, NSUN2, SPDL1, THG1L, WDR70, AGGF1, WDR41, BRIX1, C5orf22, TMCO6, TRIM36, GALNT10, NHP2, RBM22, CEP72, RIOK2, DEPDC1B, BDP1, RNF130, ERBIN, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHB@, PCDHA@, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, ANKH, CCL28, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, PRDM9, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, NLN, AHRR, ZNF608, KCTD16, SEMA6A, ARRDC3, ZSWIM6, PCDHB16, ANKRA2, HMHB1, ZBED8, GOLPH3, MCCC2, EPB41L4A, CENPK, ERAP2, ARHGEF28, NSD1, SIL1, ARAP3, TMEM267, RMND5B, FBXL17, YTHDC2, RANBP17, AGXT2, SLC30A5, CENPH, MRPL36, GPBP1, CPLANE1, BRD9, GRAMD2B, PCYOX1L, FASTKD3, IRX1, CCNJL, SH3TC2, PANK3, PARP8, SAP30L, ANKRD55, TXNDC15, MCTP1, PTCD2, ZDHHC11, LPCAT1, BTNL8, SPEF2, DOK3, ELOVL7, TRAPPC13, ZFP2, RUFY1, CPEB4, PRR7, NDFIP1, CLPTM1L, FBXO38, YIPF5, TRIM7, TIGD6, ADAMTS12, SPRY4, MXD3, NUDT12, SLC4A9, ATG10, ROPN1L, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, UTP15, ZCCHC9, MED10, PSD2, SLF1, THOC3, ZBED3, GFM2, CYSTM1, MEGF10, SPINK7, SPZ1, CARD6, TRIM52, HAVCR2, PHYKPL, SMIM3, NKD2, TSLP, FCHSD1, UNC5A, OTULIN, C5orf30, ZNF622, LYRM7, TRIM41, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, NDUFAF2, ZNF300, MYOZ3, UBTD2, LMBRD2, MRPS36, ATP6AP1L, SCGB3A1, PRDM6, FTMT, SFXN1, FNIP1, SNX18, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, C1QTNF3, MARCH3, FCHO2, RAB3C, LYSMD3, EXOC3-AS1, LEAP2, SCGB3A2, ZNF354B, SETD9, IL31RA, EMB, SLCO6A1, C5orf47, PPARGC1B, MROH2B, EGFLAM, PRRC1, NADK2, UGT3A1, CAPSL, JMY, C5orf58, ZNF474, CCDC127, OR2Y1, UBE2QL1, C5orf49, ATPSCKMT, CMBL, POU5F2, DNAJC21, AFAP1L1, GRPEL2, TMEM171, TMEM174, LSM11, POC5, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, ACOT12, SOWAHA, SHROOM1, C5orf24, SREK1, DCANP1, SLC38A9, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, TMEM167A, MBLAC2, TMEM161B, SRFBP1, PLEKHG4B, ZMAT2, MARVELD2, C5orf38, IRX2, BTNL9, ARSK, FAM81B, TTC23L, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, MIER3, CDC20B, UGT3A2, TENT2, DCP2, LIX1, ZNF366, FAM151B, S100Z, ADAMTS16, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, RANBP3L, CCDC125, GAPT, CMYA5, STK32A, LVRN, SLC36A1, RICTOR, EIF4E1B, RASGEF1C, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, FAM153A, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, OR2V2, C5orf64, RNF180, SREK1IP1, ZNF454, C5orf60, RGMB, RFESD, CHSY3, SLC6A19, TMEM173, FAM170A, ARSI, ANKRD34B, PFN3, ZNF879, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, C5orf17, MARCH11, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, ANKRD33B, ZDHHC11B, SCARNA18, SNORA74B, MIR449B, SNHG4, GTF2H2C, SERF1B, ANKDD1B, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
56.
GRCh37:
Chr5:25328-31343671
not providedPathogenic
(Apr 30, 2015)
no assertion criteria provided
57.
GRCh37:
Chr5:25328-18698028
not providedPathogenic
(Mar 11, 2014)
no assertion criteria provided
58.
GRCh37:
Chr5:25328-18662625
not providedPathogenic
(Oct 20, 2015)
no assertion criteria provided
59.
GRCh37:
Chr5:13648-180905029
ADCY2, ADRA1B, ADRB2, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, C6, C7, C9, CAMK4, CAMK2A, CAMLG, CANX, CAST, CCNB1, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, DIAPH1, DNAH5, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, F2RL1, F2RL2, F12, FABP6, FAT2, FBN2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, FLT4, FYB1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GDNF, GFRA3, GHR, GLRA1, GLRX, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, GTF2H2, GZMA, GZMK, HARS, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR1A, HTR4, IK, IL3, IL4, IL5, IL6ST, IL7R, IL9, IL12B, IL13, IRF1, ISL1, ITGA1, ITGA2, ITK, KCNMB1, KCNN2, KIF2A, TNPO1, LCP2, LECT2, LIFR, LMNB1, LNPEP, LOX, LTC4S, CD180, SMAD5, MAN2A1, MAP1B, MCC, MEF2C, MAP3K1, MFAP3, MGAT1, MOCS2, MSH3, MSX2, MTRR, MYO10, NAIP, NDUFA2, NDUFS4, NDUFS6, NEUROG1, NPM1, NPR3, OXCT1, PAM, PCDH1, PCDHGC3, PCSK1, PDE4D, PDE6A, PDGFRB, PFDN1, PGGT1B, PIK3R1, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PRKAA1, MAPK9, PRLR, PROP1, PTGER4, RAD1, PURA, RAD17, RARS, RASA1, RASGRF2, RPL37, RPS14, RPS23, SDHA, SELENOP, SGCD, SKP1, SKP2, SLC1A3, SLC6A3, SLC6A7, SLC9A3, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SMN1, SMN2, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRD5A1, SRP19, STK10, TAF7, TAF9, TARS, TBCA, TCF7, ZNF354A, TCOF1, TERT, NR2F1, TGFBI, THBS4, TRIO, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, XRCC4, ZNF131, ST8SIA4, REEP5, SERF1A, NME5, ENC1, AP3B1, PDLIM4, PLPP1, STC2, PDE8B, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, SQSTM1, P4HA2, HSPB3, ATP6V0E1, SEMA5A, ATG12, OSMR, PTTG1, PDLIM7, NREP, TRIP13, CNOT8, HAND1, MED7, HOMER1, MYOT, ADAMTS2, SCAMP1, NRG2, CXCL14, H2AFY, RNF14, CARTPT, SNCAIP, NUP155, TTC37, CLINT1, PCDHGA8, PCDHA9, ZFYVE16, MATR3, MAML1, DELE1, JAKMIP2, PJA2, DDX46, GFPT2, SLC23A1, GNPDA1, SRA1, PDCD6, EDIL3, COL4A3BP, RAD50, KIF20A, G3BP1, LHFPL2, CWC27, MARCH6, APBB3, CCNO, TNIP1, RACK1, BASP1, NSA2, FST, SLU7, PAIP1, POLR3G, RGS14, SLC12A7, PLK2, IQGAP2, SEC24A, CPLX2, FAXDC2, FAM114A2, MRPS30, BRD8, TCERG1, BTNL3, SUB1, HNRNPA0, LMAN2, SPINK5, TENT4A, SOX30, TPPP, ESM1, KIF3A, ADAMTS6, MGAT4B, B4GALT7, EXOC3, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, CCT5, SV2C, HMGXB3, PDZD2, TBC1D9B, ARHGAP26, FSTL4, MRPS27, ATP10B, N4BP3, SEPTIN8, FBXL7, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, ICE1, PPWD1, HARS2, OTP, MTREX, NNT, TTC33, ZNF346, AMACR, SSBP2, BHMT2, TNFAIP8, NIPBL, PART1, GEMIN5, PCDHGA12, LRRTM2, FAM169A, RAI14, CCDC69, PCDHB5, KLHL3, TSPAN17, FBXO4, OR4F3, OR2V1, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, DIMT1, MAT2B, SLC27A6, SNX24, MRPL22, DROSHA, PCDHB1, DMGDH, TLX3, KCNIP1, ZNF354C, IRX4, TAS2R1, TMED7, ISOC1, RPL26L1, SAR1B, MRNIP, SLC45A2, DCTN4, IPO11, MZB1, PAIP2, CDKL3, RXFP3, PCDH12, GCNT4, FAM13B, FAM53C, REEP2, PRR16, COMMD10, POLK, DDX41, NOP16, LARS, CXXC5, ZFR, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, RAB24, PELO, RBM27, RETREG1, OTULINL, NEURL1B, DHX29, DDX4, FAM193B, MTMR12, SGTB, ARL15, TMED9, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, NSUN2, SPDL1, THG1L, WDR70, AGGF1, WDR41, BRIX1, C5orf22, TMCO6, TRIM36, GALNT10, NHP2, RBM22, CEP72, RIOK2, DEPDC1B, BDP1, RNF130, ERBIN, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHB@, PCDHA@, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, ANKH, CCL28, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, PRDM9, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, NLN, AHRR, ZNF608, KCTD16, SEMA6A, ARRDC3, ZSWIM6, PCDHB16, ANKRA2, HMHB1, ZBED8, GOLPH3, MCCC2, EPB41L4A, CENPK, ERAP2, ARHGEF28, NSD1, SIL1, ARAP3, TMEM267, RMND5B, FBXL17, YTHDC2, RANBP17, AGXT2, SLC30A5, CENPH, MRPL36, GPBP1, CPLANE1, BRD9, GRAMD2B, PCYOX1L, FASTKD3, IRX1, CCNJL, SH3TC2, PANK3, PARP8, SAP30L, ANKRD55, TXNDC15, MCTP1, PTCD2, ZDHHC11, LPCAT1, BTNL8, SPEF2, DOK3, ELOVL7, TRAPPC13, ZFP2, RUFY1, CPEB4, PRR7, NDFIP1, CLPTM1L, FBXO38, YIPF5, TRIM7, TIGD6, ADAMTS12, SPRY4, MXD3, NUDT12, SLC4A9, ATG10, ROPN1L, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, UTP15, ZCCHC9, MED10, PSD2, SLF1, THOC3, ZBED3, GFM2, CYSTM1, MEGF10, SPINK7, SPZ1, CARD6, TRIM52, HAVCR2, PHYKPL, SMIM3, NKD2, TSLP, FCHSD1, UNC5A, OTULIN, C5orf30, ZNF622, LYRM7, TRIM41, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, NDUFAF2, ZNF300, MYOZ3, UBTD2, LMBRD2, MRPS36, ATP6AP1L, SCGB3A1, PRDM6, FTMT, SFXN1, FNIP1, SNX18, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, C1QTNF3, MARCH3, FCHO2, RAB3C, LYSMD3, EXOC3-AS1, LEAP2, SCGB3A2, ZNF354B, SETD9, IL31RA, EMB, SLCO6A1, C5orf47, PPARGC1B, MROH2B, EGFLAM, PRRC1, NADK2, UGT3A1, CAPSL, JMY, C5orf58, ZNF474, CCDC127, OR2Y1, UBE2QL1, C5orf49, ATPSCKMT, CMBL, POU5F2, DNAJC21, AFAP1L1, GRPEL2, TMEM171, TMEM174, LSM11, POC5, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, ACOT12, SOWAHA, SHROOM1, C5orf24, SREK1, DCANP1, SLC38A9, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, TMEM167A, MBLAC2, TMEM161B, SRFBP1, PLEKHG4B, ZMAT2, MARVELD2, C5orf38, IRX2, BTNL9, ARSK, FAM81B, TTC23L, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, MIER3, CDC20B, UGT3A2, TENT2, DCP2, LIX1, ZNF366, FAM151B, S100Z, ADAMTS16, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, RANBP3L, CCDC125, GAPT, CMYA5, STK32A, LVRN, SLC36A1, RICTOR, EIF4E1B, RASGEF1C, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, FAM153A, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, OR2V2, C5orf64, RNF180, SREK1IP1, ZNF454, C5orf60, RGMB, RFESD, CHSY3, SLC6A19, TMEM173, FAM170A, ARSI, ANKRD34B, PFN3, ZNF879, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, C5orf17, MARCH11, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, ANKRD33B, ZDHHC11B, SCARNA18, SNORA74B, MIR449B, SNHG4, GTF2H2C, SERF1B, ANKDD1B, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
60.
GRCh37:
Chr5:13167440-14733954
DNAH5, TRIO, OTULINL, ANKH, OTULINnot providedLikely pathogenic
(Oct 23, 2017)
no assertion criteria provided
61.
GRCh37:
Chr5:10515035-17607385
not providedPathogenic
(Apr 14, 2018)
no assertion criteria provided
62.
GRCh37:
Chr5:5830053-19490899
not providedPathogenic
(Mar 8, 2018)
no assertion criteria provided
63.
GRCh37:
Chr5:113576-35739404
not providedPathogenic
(Nov 14, 2017)
no assertion criteria provided
64.
GRCh37:
Chr5:113576-19167699
not providedPathogenic
(Oct 20, 2017)
no assertion criteria provided
65.
GRCh37:
Chr5:113576-15822225
not providedPathogenic
(Apr 23, 2018)
no assertion criteria provided
66.
GRCh37:
Chr5:25328-30672798
See casesPathogenic
(Mar 10, 2017)
no assertion criteria provided
67.
GRCh37:
Chr5:113576-23047959
See casesPathogenic
(Aug 15, 2014)
no assertion criteria provided
68.
GRCh37:
Chr5:113576-20240392
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
69.
GRCh37:
Chr5:13798818-14186638
DNAH5, TRIOSee casesUncertain significance
(Aug 12, 2015)
no assertion criteria provided
70.
GRCh37:
Chr5:113576-26234903
See casesPathogenic
(Jun 23, 2014)
no assertion criteria provided
71.
GRCh37:
Chr5:113576-25091472
See casesPathogenic
(Jun 23, 2014)
no assertion criteria provided
72.
GRCh37:
Chr5:113576-26948599
See casesPathogenic
(Dec 31, 2014)
no assertion criteria provided
73.
GRCh37:
Chr5:13438427-14208241
DNAH5, TRIOSee casesUncertain significance
(May 5, 2014)
no assertion criteria provided
74.
GRCh37:
Chr5:13085316-14247763
DNAH5, TRIOSee casesconflicting data from submitters
(Mar 10, 2016)
no assertion criteria provided
75.
GRCh37:
Chr5:113577-180719789
ADCY2, ADRA1B, ADRB2, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, C6, C7, C9, CAMK4, CAMK2A, CAMLG, CANX, CAST, CCNB1, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, DIAPH1, DNAH5, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, F2RL1, F2RL2, F12, FABP6, FAT2, FBN2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, FLT4, FYB1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GDNF, GFRA3, GHR, GLRA1, GLRX, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, GTF2H2, GZMA, GZMK, HARS, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR1A, HTR4, IK, IL3, IL4, IL5, IL6ST, IL7R, IL9, IL12B, IL13, IRF1, ISL1, ITGA1, ITGA2, ITK, KCNMB1, KCNN2, KIF2A, TNPO1, LCP2, LECT2, LIFR, LMNB1, LNPEP, LOX, LTC4S, CD180, SMAD5, MAN2A1, MAP1B, MCC, MEF2C, MAP3K1, MFAP3, MGAT1, MOCS2, MSH3, MSX2, MTRR, MYO10, NAIP, NDUFA2, NDUFS4, NDUFS6, NEUROG1, NPM1, NPR3, OXCT1, PAM, PCDH1, PCDHGC3, PCSK1, PDE4D, PDE6A, PDGFRB, PFDN1, PGGT1B, PIK3R1, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PRKAA1, MAPK9, PRLR, PROP1, PTGER4, RAD1, PURA, RAD17, RARS, RASA1, RASGRF2, RPL37, RPS14, RPS23, SDHA, SELENOP, SGCD, SKP1, SKP2, SLC1A3, SLC6A3, SLC6A7, SLC9A3, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SMN1, SMN2, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRD5A1, SRP19, STK10, TAF7, TAF9, TARS, TBCA, TCF7, ZNF354A, TCOF1, TERT, NR2F1, TGFBI, THBS4, TRIO, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, XRCC4, ZNF131, ST8SIA4, REEP5, SERF1A, NME5, ENC1, AP3B1, PDLIM4, PLPP1, STC2, PDE8B, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, SQSTM1, P4HA2, HSPB3, ATP6V0E1, SEMA5A, ATG12, OSMR, PTTG1, PDLIM7, NREP, TRIP13, CNOT8, HAND1, MED7, HOMER1, MYOT, ADAMTS2, SCAMP1, NRG2, CXCL14, H2AFY, RNF14, CARTPT, SNCAIP, NUP155, TTC37, CLINT1, PCDHGA8, PCDHA9, ZFYVE16, MATR3, MAML1, DELE1, JAKMIP2, PJA2, DDX46, GFPT2, SLC23A1, GNPDA1, SRA1, PDCD6, EDIL3, COL4A3BP, RAD50, KIF20A, G3BP1, LHFPL2, CWC27, MARCH6, APBB3, CCNO, TNIP1, RACK1, BASP1, NSA2, FST, SLU7, PAIP1, POLR3G, RGS14, SLC12A7, PLK2, IQGAP2, SEC24A, CPLX2, FAXDC2, FAM114A2, MRPS30, BRD8, TCERG1, BTNL3, SUB1, HNRNPA0, LMAN2, SPINK5, TENT4A, SOX30, TPPP, ESM1, KIF3A, ADAMTS6, MGAT4B, B4GALT7, EXOC3, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, CCT5, SV2C, HMGXB3, PDZD2, TBC1D9B, ARHGAP26, FSTL4, MRPS27, ATP10B, N4BP3, SEPTIN8, FBXL7, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, ICE1, PPWD1, HARS2, OTP, MTREX, NNT, TTC33, ZNF346, AMACR, SSBP2, BHMT2, TNFAIP8, NIPBL, PART1, GEMIN5, PCDHGA12, LRRTM2, FAM169A, RAI14, CCDC69, PCDHB5, KLHL3, TSPAN17, FBXO4, OR2V1, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, DIMT1, MAT2B, SLC27A6, SNX24, MRPL22, DROSHA, PCDHB1, DMGDH, TLX3, KCNIP1, ZNF354C, IRX4, TAS2R1, TMED7, ISOC1, RPL26L1, SAR1B, MRNIP, SLC45A2, DCTN4, IPO11, MZB1, PAIP2, CDKL3, RXFP3, PCDH12, GCNT4, FAM13B, FAM53C, REEP2, PRR16, COMMD10, POLK, DDX41, NOP16, LARS, CXXC5, ZFR, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, RAB24, PELO, RBM27, RETREG1, OTULINL, NEURL1B, DHX29, DDX4, FAM193B, MTMR12, SGTB, ARL15, TMED9, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, NSUN2, SPDL1, THG1L, WDR70, AGGF1, WDR41, BRIX1, C5orf22, TMCO6, TRIM36, GALNT10, NHP2, RBM22, CEP72, RIOK2, DEPDC1B, BDP1, RNF130, ERBIN, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHB@, PCDHA@, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, ANKH, CCL28, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, PRDM9, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, NLN, AHRR, ZNF608, KCTD16, SEMA6A, ARRDC3, ZSWIM6, PCDHB16, ANKRA2, HMHB1, ZBED8, GOLPH3, MCCC2, EPB41L4A, CENPK, ERAP2, ARHGEF28, NSD1, SIL1, ARAP3, TMEM267, RMND5B, FBXL17, YTHDC2, RANBP17, AGXT2, SLC30A5, CENPH, MRPL36, GPBP1, CPLANE1, BRD9, GRAMD2B, PCYOX1L, FASTKD3, IRX1, CCNJL, SH3TC2, PANK3, PARP8, SAP30L, ANKRD55, TXNDC15, MCTP1, PTCD2, ZDHHC11, LPCAT1, BTNL8, SPEF2, DOK3, ELOVL7, TRAPPC13, ZFP2, RUFY1, CPEB4, PRR7, NDFIP1, CLPTM1L, FBXO38, YIPF5, TRIM7, TIGD6, ADAMTS12, SPRY4, MXD3, NUDT12, SLC4A9, ATG10, ROPN1L, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, UTP15, ZCCHC9, MED10, PSD2, SLF1, THOC3, ZBED3, GFM2, CYSTM1, MEGF10, SPINK7, SPZ1, CARD6, TRIM52, HAVCR2, PHYKPL, SMIM3, NKD2, TSLP, FCHSD1, UNC5A, OTULIN, C5orf30, ZNF622, LYRM7, TRIM41, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, NDUFAF2, ZNF300, MYOZ3, UBTD2, LMBRD2, MRPS36, ATP6AP1L, SCGB3A1, PRDM6, FTMT, SFXN1, FNIP1, SNX18, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, C1QTNF3, MARCH3, FCHO2, RAB3C, LYSMD3, EXOC3-AS1, LEAP2, SCGB3A2, ZNF354B, SETD9, IL31RA, EMB, SLCO6A1, C5orf47, PPARGC1B, MROH2B, EGFLAM, PRRC1, NADK2, UGT3A1, CAPSL, JMY, C5orf58, ZNF474, CCDC127, OR2Y1, UBE2QL1, C5orf49, ATPSCKMT, CMBL, POU5F2, DNAJC21, AFAP1L1, GRPEL2, TMEM171, TMEM174, LSM11, POC5, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, ACOT12, SOWAHA, SHROOM1, C5orf24, SREK1, DCANP1, SLC38A9, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, TMEM167A, MBLAC2, TMEM161B, SRFBP1, PLEKHG4B, ZMAT2, MARVELD2, C5orf38, IRX2, BTNL9, ARSK, FAM81B, TTC23L, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, MIER3, CDC20B, UGT3A2, TENT2, DCP2, LIX1, ZNF366, FAM151B, S100Z, ADAMTS16, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, RANBP3L, CCDC125, GAPT, CMYA5, STK32A, LVRN, SLC36A1, RICTOR, EIF4E1B, RASGEF1C, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, FAM153A, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, OR2V2, C5orf64, RNF180, SREK1IP1, ZNF454, C5orf60, RGMB, RFESD, CHSY3, SLC6A19, TMEM173, FAM170A, ARSI, ANKRD34B, PFN3, ZNF879, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, C5orf17, MARCH11, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, ANKRD33B, ZDHHC11B, SCARNA18, SNORA74B, MIR449B, SNHG4, GTF2H2C, SERF1B, ANKDD1B, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
76.
GRCh37:
Chr5:113577-180719789
ADCY2, ADRA1B, ADRB2, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, C6, C7, C9, CAMK4, CAMK2A, CAMLG, CANX, CAST, CCNB1, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, DIAPH1, DNAH5, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, F2RL1, F2RL2, F12, FABP6, FAT2, FBN2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, FLT4, FYB1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GDNF, GFRA3, GHR, GLRA1, GLRX, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, GTF2H2, GZMA, GZMK, HARS, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR1A, HTR4, IK, IL3, IL4, IL5, IL6ST, IL7R, IL9, IL12B, IL13, IRF1, ISL1, ITGA1, ITGA2, ITK, KCNMB1, KCNN2, KIF2A, TNPO1, LCP2, LECT2, LIFR, LMNB1, LNPEP, LOX, LTC4S, CD180, SMAD5, MAN2A1, MAP1B, MCC, MEF2C, MAP3K1, MFAP3, MGAT1, MOCS2, MSH3, MSX2, MTRR, MYO10, NAIP, NDUFA2, NDUFS4, NDUFS6, NEUROG1, NPM1, NPR3, OXCT1, PAM, PCDH1, PCDHGC3, PCSK1, PDE4D, PDE6A, PDGFRB, PFDN1, PGGT1B, PIK3R1, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PRKAA1, MAPK9, PRLR, PROP1, PTGER4, RAD1, PURA, RAD17, RARS, RASA1, RASGRF2, RPL37, RPS14, RPS23, SDHA, SELENOP, SGCD, SKP1, SKP2, SLC1A3, SLC6A3, SLC6A7, SLC9A3, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SMN1, SMN2, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRD5A1, SRP19, STK10, TAF7, TAF9, TARS, TBCA, TCF7, ZNF354A, TCOF1, TERT, NR2F1, TGFBI, THBS4, TRIO, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, XRCC4, ZNF131, ST8SIA4, REEP5, SERF1A, NME5, ENC1, AP3B1, PDLIM4, PLPP1, STC2, PDE8B, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, SQSTM1, P4HA2, HSPB3, ATP6V0E1, SEMA5A, ATG12, OSMR, PTTG1, PDLIM7, NREP, TRIP13, CNOT8, HAND1, MED7, HOMER1, MYOT, ADAMTS2, SCAMP1, NRG2, CXCL14, H2AFY, RNF14, CARTPT, SNCAIP, NUP155, TTC37, CLINT1, PCDHGA8, PCDHA9, ZFYVE16, MATR3, MAML1, DELE1, JAKMIP2, PJA2, DDX46, GFPT2, SLC23A1, GNPDA1, SRA1, PDCD6, EDIL3, COL4A3BP, RAD50, KIF20A, G3BP1, LHFPL2, CWC27, MARCH6, APBB3, CCNO, TNIP1, RACK1, BASP1, NSA2, FST, SLU7, PAIP1, POLR3G, RGS14, SLC12A7, PLK2, IQGAP2, SEC24A, CPLX2, FAXDC2, FAM114A2, MRPS30, BRD8, TCERG1, BTNL3, SUB1, HNRNPA0, LMAN2, SPINK5, TENT4A, SOX30, TPPP, ESM1, KIF3A, ADAMTS6, MGAT4B, B4GALT7, EXOC3, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, CCT5, SV2C, HMGXB3, PDZD2, TBC1D9B, ARHGAP26, FSTL4, MRPS27, ATP10B, N4BP3, SEPTIN8, FBXL7, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, ICE1, PPWD1, HARS2, OTP, MTREX, NNT, TTC33, ZNF346, AMACR, SSBP2, BHMT2, TNFAIP8, NIPBL, PART1, GEMIN5, PCDHGA12, LRRTM2, FAM169A, RAI14, CCDC69, PCDHB5, KLHL3, TSPAN17, FBXO4, OR2V1, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, DIMT1, MAT2B, SLC27A6, SNX24, MRPL22, DROSHA, PCDHB1, DMGDH, TLX3, KCNIP1, ZNF354C, IRX4, TAS2R1, TMED7, ISOC1, RPL26L1, SAR1B, MRNIP, SLC45A2, DCTN4, IPO11, MZB1, PAIP2, CDKL3, RXFP3, PCDH12, GCNT4, FAM13B, FAM53C, REEP2, PRR16, COMMD10, POLK, DDX41, NOP16, LARS, CXXC5, ZFR, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, RAB24, PELO, RBM27, RETREG1, OTULINL, NEURL1B, DHX29, DDX4, FAM193B, MTMR12, SGTB, ARL15, TMED9, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, NSUN2, SPDL1, THG1L, WDR70, AGGF1, WDR41, BRIX1, C5orf22, TMCO6, TRIM36, GALNT10, NHP2, RBM22, CEP72, RIOK2, DEPDC1B, BDP1, RNF130, ERBIN, PCDHGC5, PCDHGC4, PCDHGB7, PCDHGB6, PCDHGB5, PCDHGB3, PCDHGB2, PCDHGB1, PCDHGA11, PCDHGA10, PCDHGA9, PCDHGA7, PCDHGA6, PCDHGA5, PCDHGA4, PCDHGA3, PCDHGA2, PCDHGA1, PCDHB@, PCDHA@, PCDHB15, PCDHB14, PCDHB13, PCDHB12, PCDHB11, PCDHB10, PCDHB9, PCDHB8, PCDHB7, PCDHB6, PCDHB4, PCDHB3, PCDHB2, PCDHAC2, PCDHAC1, PCDHA13, PCDHA12, PCDHA11, PCDHA10, PCDHA8, PCDHA7, PCDHA6, PCDHA5, PCDHA4, PCDHA3, PCDHA2, PCDHA1, ANKH, CCL28, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, PRDM9, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, NLN, AHRR, ZNF608, KCTD16, SEMA6A, ARRDC3, ZSWIM6, PCDHB16, ANKRA2, HMHB1, ZBED8, GOLPH3, MCCC2, EPB41L4A, CENPK, ERAP2, ARHGEF28, NSD1, SIL1, ARAP3, TMEM267, RMND5B, FBXL17, YTHDC2, RANBP17, AGXT2, SLC30A5, CENPH, MRPL36, GPBP1, CPLANE1, BRD9, GRAMD2B, PCYOX1L, FASTKD3, IRX1, CCNJL, SH3TC2, PANK3, PARP8, SAP30L, ANKRD55, TXNDC15, MCTP1, PTCD2, ZDHHC11, LPCAT1, BTNL8, SPEF2, DOK3, ELOVL7, TRAPPC13, ZFP2, RUFY1, CPEB4, PRR7, NDFIP1, CLPTM1L, FBXO38, YIPF5, TRIM7, TIGD6, ADAMTS12, SPRY4, MXD3, NUDT12, SLC4A9, ATG10, ROPN1L, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, UTP15, ZCCHC9, MED10, PSD2, SLF1, THOC3, ZBED3, GFM2, CYSTM1, MEGF10, SPINK7, SPZ1, CARD6, TRIM52, HAVCR2, PHYKPL, SMIM3, NKD2, TSLP, FCHSD1, UNC5A, OTULIN, C5orf30, ZNF622, LYRM7, TRIM41, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, NDUFAF2, ZNF300, MYOZ3, UBTD2, LMBRD2, MRPS36, ATP6AP1L, SCGB3A1, PRDM6, FTMT, SFXN1, FNIP1, SNX18, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, C1QTNF3, MARCH3, FCHO2, RAB3C, LYSMD3, EXOC3-AS1, LEAP2, SCGB3A2, ZNF354B, SETD9, IL31RA, EMB, SLCO6A1, C5orf47, PPARGC1B, MROH2B, EGFLAM, PRRC1, NADK2, UGT3A1, CAPSL, JMY, C5orf58, ZNF474, CCDC127, OR2Y1, UBE2QL1, C5orf49, ATPSCKMT, CMBL, POU5F2, DNAJC21, AFAP1L1, GRPEL2, TMEM171, TMEM174, LSM11, POC5, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, ACOT12, SOWAHA, SHROOM1, C5orf24, SREK1, DCANP1, SLC38A9, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, TMEM167A, MBLAC2, TMEM161B, SRFBP1, PLEKHG4B, ZMAT2, MARVELD2, C5orf38, IRX2, BTNL9, ARSK, FAM81B, TTC23L, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, MIER3, CDC20B, UGT3A2, TENT2, DCP2, LIX1, ZNF366, FAM151B, S100Z, ADAMTS16, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, RANBP3L, CCDC125, GAPT, CMYA5, STK32A, LVRN, SLC36A1, RICTOR, EIF4E1B, RASGEF1C, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, FAM153A, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, OR2V2, C5orf64, RNF180, SREK1IP1, ZNF454, C5orf60, RGMB, RFESD, CHSY3, SLC6A19, TMEM173, FAM170A, ARSI, ANKRD34B, PFN3, ZNF879, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, C5orf17, MARCH11, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, ANKRD33B, ZDHHC11B, SCARNA18, SNORA74B, MIR449B, SNHG4, GTF2H2C, SERF1B, ANKDD1B, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
77.
GRCh37:
Chr5:113576-15291661
See casesPathogenic
(May 16, 2014)
no assertion criteria provided
78.
GRCh37:
Chr5:113576-21786246
See casesPathogenicno assertion criteria provided
79.
GRCh37:
Chr5:113576-17334977
See casesPathogenicno assertion criteria provided
80.
GRCh37:
Chr5:7806183-31019599
See casesPathogenicno assertion criteria provided
81.
GRCh37:
Chr5:113576-14238330
See casesPathogenicno assertion criteria provided
82.
GRCh37:
Chr5:9120813-24274030
See casesPathogenicno assertion criteria provided
83.
GRCh37:
Chr5:113576-27338567
See casesPathogenicno assertion criteria provided
84.
GRCh37:
Chr5:113576-23147737
See casesPathogenicno assertion criteria provided
85.
GRCh37:
Chr5:113576-25948451
See casesPathogenicno assertion criteria provided
86.
GRCh37:
Chr5:113576-30279389
See casesPathogenicno assertion criteria provided
87.
GRCh37:
Chr5:113576-33493797
See casesPathogenicno assertion criteria provided
88.
GRCh37:
Chr5:113576-34372083
See casesPathogenicno assertion criteria provided
89.
GRCh37:
Chr5:113576-16854340
See casesPathogenicno assertion criteria provided
90.
GRCh37:
Chr5:79146-22152284
See casesPathogenicno assertion criteria provided
91.
GRCh37:
Chr5:22149-34041196