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Items: 54

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:169532944
GRCh38:
Chr5:170105940
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352700
2.
GRCh37:
Chr5:169532991
GRCh38:
Chr5:170105987
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352701
3.
GRCh37:
Chr5:169533240
GRCh38:
Chr5:170106236
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000352702
4.
GRCh37:
Chr5:169533269
GRCh38:
Chr5:170106265
FOXI1G103ANonsyndromic Hearing Loss, Mixed, not provided, Pendred syndrome
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000352703
5.
GRCh37:
Chr5:169533279
GRCh38:
Chr5:170106275
FOXI1D106ENonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352704
6.
GRCh37:
Chr5:169533307
GRCh38:
Chr5:170106303
FOXI1E116Knot specifiedUncertain significance
(Aug 24, 2015)
criteria provided, single submitterVCV000252675
7.
GRCh37:
Chr5:169533403
GRCh38:
Chr5:170106399
FOXI1Q148ENonsyndromic Hearing Loss, Mixed, not provided, Pendred syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000290061
8.
GRCh37:
Chr5:169533529
GRCh38:
Chr5:170106525
FOXI1D190HNonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352705
9.
GRCh37:
Chr5:169535155
GRCh38:
Chr5:170108151
FOXI1T226Inot specifiedLikely benign
(Oct 14, 2016)
criteria provided, single submitterVCV000497649
10.
GRCh37:
Chr5:169535204
GRCh38:
Chr5:170108200
FOXI1not specifiedLikely benign
(Feb 9, 2015)
criteria provided, single submitterVCV000195276
11.
GRCh37:
Chr5:169535251
GRCh38:
Chr5:170108247
FOXI1G258ENonsyndromic Hearing Loss, Mixed, not provided, Enlarged vestibular aqueduct,
Pendred syndrome
Uncertain significance
(Jun 1, 2007)
criteria provided, multiple submitters, no conflictsVCV000008449
12.
GRCh37:
Chr5:169535278
GRCh38:
Chr5:170108274
FOXI1R267QPendred syndrome, Enlarged vestibular aqueductPathogenic
(Jun 1, 2007)
no assertion criteria providedVCV000008450
13.
GRCh37:
Chr5:169535300
GRCh38:
Chr5:170108296
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352706
14.
GRCh37:
Chr5:169535303
GRCh38:
Chr5:170108299
FOXI1Nonsyndromic Hearing Loss, Mixed, not provided, Pendred syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000285399
15.
GRCh37:
Chr5:169535339
GRCh38:
Chr5:170108335
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352707
16.
GRCh37:
Chr5:169535349
GRCh38:
Chr5:170108345
FOXI1G291Rnot providedUncertain significance
(May 26, 2017)
criteria provided, single submitterVCV000502184
17.
GRCh37:
Chr5:169535380
GRCh38:
Chr5:170108376
FOXI1T301Inot providedUncertain significance
(Jan 9, 2018)
criteria provided, single submitterVCV000286094
18.
GRCh37:
Chr5:169535416
GRCh38:
Chr5:170108412
FOXI1G313ENonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352708
19.
GRCh37:
Chr5:169535443-169535445
GRCh38:
Chr5:170108439-170108441
FOXI1F322delNonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352709
20.
GRCh37:
Chr5:169535450
GRCh38:
Chr5:170108446
FOXI1Nonsyndromic Hearing Loss, Mixed, not provided, Pendred syndrome
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000352710
21.
GRCh37:
Chr5:169535475
GRCh38:
Chr5:170108471
FOXI1G333SNonsyndromic Hearing Loss, Mixed, not provided, Pendred syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000286747
22.
GRCh37:
Chr5:169535491
GRCh38:
Chr5:170108487
FOXI1A338VNonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352711
23.
GRCh37:
Chr5:169535496
GRCh38:
Chr5:170108492
FOXI1P340Anot specifiedLikely benign
(Feb 28, 2017)
criteria provided, single submitterVCV000499783
24.
GRCh37:
Chr5:169535522
GRCh38:
Chr5:170108518
FOXI1Nonsyndromic Hearing Loss, Mixed, not specified, Pendred syndrome
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000260212
25.
GRCh37:
Chr5:169535566
GRCh38:
Chr5:170108562
FOXI1S363INonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352712
26.
GRCh37:
Chr5:169535734
GRCh38:
Chr5:170108730
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000352713
27.
GRCh37:
Chr5:169535791
GRCh38:
Chr5:170108787
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352714
28.
GRCh37:
Chr5:169536012
GRCh38:
Chr5:170109008
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352715
29.
GRCh37:
Chr5:169536033
GRCh38:
Chr5:170109029
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352716
30.
GRCh37:
Chr5:169536055
GRCh38:
Chr5:170109051
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000352717
31.
GRCh37:
Chr5:169536101
GRCh38:
Chr5:170109097
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352718
32.
GRCh37:
Chr5:169536150
GRCh38:
Chr5:170109146
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000352719
33.
GRCh37:
Chr5:169536191
GRCh38:
Chr5:170109187
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352720
34.
GRCh37:
Chr5:169536322
GRCh38:
Chr5:170109318
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352721
35.
GRCh37:
Chr5:169536553
GRCh38:
Chr5:170109549
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000352722
36.
GRCh37:
Chr5:169536601
GRCh38:
Chr5:170109597
FOXI1Nonsyndromic Hearing Loss, Mixed, Pendred syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000352723
37.
GRCh37:
Chr5:155344802-180693344
not providedPathogenic
(Oct 30, 2014)
no assertion criteria providedVCV000608648
38.
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, 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, CDX1, CETN3, CHD1, CKMT2, ERCC8, AP3S1, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, HCN1, CLTB, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, CSNK1A1, CSNK1G3, VCAN, NKX2-5, CTNNA1, DIAPH1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, CTNND2, DAB2, DAP, DBN1, DMXL1, DHFR, RGS7BP, C5orf63, SPINK6, LINC01194, ANKHD1-EIF4EBP3, MIR103A1, DNAH5, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, C5orf17, MARCH11, IGIP, GPX8, MIR378A, TIFAB, F2RL1, F2RL2, F12, FABP6, FAT2, FBN2, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, 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, 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, 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, CERT1, 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
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000607687
39.
GRCh37:
Chr5:13648-180905029
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, ADCY2, ADRA1B, ADRB2, SLC36A1, RICTOR, EIF4E1B, RASGEF1C, ANKRD31, SERINC5, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, EFCAB9, SH3PXD2B, FAM153A, ARL10, KIAA0825, GPR150, BHMT, BNIP1, BTF3, C6, C7, C9, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, OR2V2, CAMK4, CAMK2A, CAMLG, CANX, CAST, CCNB1, C5orf64, RNF180, SREK1IP1, ZNF454, C5orf60, RGMB, CCNG1, CCNH, CD14, CD74, CDC25C, CDH6, CDH9, RFESD, CHSY3, SLC6A19, TMEM173, FAM170A, ARSI, CDH10, CDH12, CDH18, CDK7, CDO1, CDX1, ANKRD34B, PFN3, ZNF879, PLCXD3, IRGM, MCIDAS, CETN3, CHD1, CKMT2, ERCC8, AP3S1, CLTB, ACTBL2, FAM174A, MTX3, CATSPER3, SLC6A18, NIPAL4, COX7C, CRHBP, HAPLN1, CSF1R, CSF2, CSNK1A1, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, CSNK1G3, VCAN, NKX2-5, CTNNA1, CTNND2, SIMC1, LRRC14B, ANXA2R, TEX43, PROB1, C5orf46, 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, 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, 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, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1, 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, CERT1, 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
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000607681
40.
GRCh37:
Chr5:17628741-176575720
C1QTNF2, C1QTNF3, MARCH3, FCHO2, RAB3C, LYSMD3, LEAP2, SCGB3A2, SETD9, IL31RA, EMB, SLCO6A1, C5orf47, PPARGC1B, MROH2B, EGFLAM, PRRC1, NADK2, UGT3A1, CAPSL, JMY, C5orf58, ZNF474, 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, ZMAT2, MARVELD2, ARSK, FAM81B, TTC23L, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, MIER3, CDC20B, UGT3A2, TENT2, DCP2, LIX1, ZNF366, FAM151B, S100Z, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, RANBP3L, CCDC125, GAPT, CMYA5, STK32A, LVRN, SLC36A1, RICTOR, EIF4E1B, ANKRD31, SERINC5, EFCAB9, SH3PXD2B, ARL10, KIAA0825, GPR150, DTWD2, RELL2, C5orf51, SLC36A3, KIF4B, C5orf64, RNF180, SREK1IP1, RGMB, RFESD, CHSY3, TMEM173, FAM170A, ARSI, ANKRD34B, PLCXD3, IRGM, MCIDAS, ACTBL2, FAM174A, MTX3, CATSPER3, NIPAL4, HCN1, SLCO4C1, TICAM2, DND1, C5orf34, MAST4, SIMC1, ANXA2R, TEX43, PROB1, C5orf46, ARHGEF37, RGS7BP, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, MIR9-2, SPINK14, FNDC9, C5orf17, IGIP, GPX8, MIR378A, TIFAB, MIR449A, CTXN3, ECSCR, TMEM232, SMIM15, GRXCR2, SPINK9, ARL14EPL, SMIM23, CCNI2, SCARNA18, SNORA74B, MIR449B, SNHG4, GTF2H2C, SERF1B, ANKDD1B, VTRNA2-1, MINAR2, LOC100128059, CCDC152, LRRC70, INSYN2B, SHISAL2B, C5orf52, LOC100288254, TMED7-TICAM2, NCRUPAR, MTRNR2L2, LUCAT1, EGFLAM-AS2, OCLN, EGFLAM-AS4, GDNF-AS1, ADRA1B, ADRB2, ANXA6, APC, TRIM23, ARSB, ATOX1, ALDH7A1, BHMT, BNIP1, BTF3, C6, C7, C9, CAMK4, CAMK2A, CAMLG, 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, DAB2, DMXL1, DHFR, DIAPH1, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F2R, F2RL1, F2RL2, FABP6, FAT2, FBN2, FER, FGF1, FGF10, FGFR4, FOXD1, FOXI1, FYB1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GDNF, GFRA3, GHR, GLRA1, GLRX, GM2A, GPX3, GRIA1, NR3C1, GTF2H2, GZMA, GZMK, HARS, HEXB, HINT1, HK3, HMGCR, HMGCS1, HMMR, 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, CD180, SMAD5, MAN2A1, MAP1B, MCC, MEF2C, MAP3K1, MFAP3, MOCS2, MSH3, MSX2, NAIP, NDUFA2, NDUFS4, NEUROG1, NPM1, NPR3, OXCT1, PAM, PCDH1, PCDHGC3, PCSK1, PDE4D, PDE6A, PDGFRB, PFDN1, PGGT1B, PIK3R1, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PRKAA1, PRLR, PTGER4, RAD1, PURA, RAD17, RARS, RASA1, RASGRF2, RPL37, RPS14, RPS23, SELENOP, SGCD, SKP1, SKP2, SLC1A3, SLC6A7, SLC12A2, SLC22A4, SLC22A5, SLIT3, SMN1, SMN2, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRP19, STK10, TAF7, TAF9, TARS, TBCA, TCF7, TCOF1, NR2F1, TGFBI, THBS4, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, XRCC4, ZNF131, ST8SIA4, REEP5, SERF1A, NME5, ENC1, AP3B1, PDLIM4, PLPP1, STC2, PDE8B, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, P4HA2, HSPB3, ATP6V0E1, ATG12, OSMR, PTTG1, NREP, CNOT8, HAND1, MED7, HOMER1, MYOT, SCAMP1, NRG2, CXCL14, H2AFY, RNF14, CARTPT, SNCAIP, NUP155, TTC37, CLINT1, PCDHGA8, PCDHA9, ZFYVE16, MATR3, DELE1, JAKMIP2, PJA2, DDX46, SLC23A1, GNPDA1, SRA1, EDIL3, CERT1, RAD50, KIF20A, G3BP1, LHFPL2, CWC27, APBB3, CCNO, TNIP1, NSA2, FST, SLU7, PAIP1, POLR3G, PLK2, IQGAP2, SEC24A, CPLX2, FAXDC2, FAM114A2, MRPS30, BRD8, TCERG1, SUB1, HNRNPA0, SPINK5, SOX30, ESM1, KIF3A, ADAMTS6, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, SV2C, HMGXB3, PDZD2, ARHGAP26, FSTL4, MRPS27, ATP10B, SEPTIN8, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, PPWD1, HARS2, OTP, MTREX, NNT, TTC33, ZNF346, AMACR, SSBP2, BHMT2, TNFAIP8, NIPBL, PART1, GEMIN5, PCDHGA12, LRRTM2, FAM169A, RAI14, CCDC69, PCDHB5, KLHL3, TSPAN17, FBXO4, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, IL17B, DIMT1, MAT2B, SLC27A6, SNX24, MRPL22, DROSHA, PCDHB1, DMGDH, TLX3, KCNIP1, TMED7, ISOC1, RPL26L1, SAR1B, SLC45A2, DCTN4, IPO11, MZB1, PAIP2, CDKL3, RXFP3, PCDH12, GCNT4, FAM13B, FAM53C, REEP2, PRR16, COMMD10, POLK, NOP16, LARS, CXXC5, ZFR, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, PELO, RBM27, NEURL1B, DHX29, DDX4, MTMR12, SGTB, ARL15, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, SPDL1, THG1L, WDR70, AGGF1, WDR41, BRIX1, C5orf22, TMCO6, TRIM36, GALNT10, RBM22, RIOK2, DEPDC1B, BDP1, 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, CCL28, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, PRDM9, CDC42SE2, TRPC7, KIAA1191, ERGIC1, TENM2, NLN, ZNF608, KCTD16, SEMA6A, ARRDC3, ZSWIM6, PCDHB16, ANKRA2, HMHB1, ZBED8, GOLPH3, MCCC2, EPB41L4A, CENPK, ERAP2, ARHGEF28, NSD1, SIL1, ARAP3, TMEM267, FBXL17, YTHDC2, RANBP17, AGXT2, SLC30A5, CENPH, GPBP1, CPLANE1, GRAMD2B, PCYOX1L, CCNJL, SH3TC2, PANK3, PARP8, SAP30L, ANKRD55, TXNDC15, MCTP1, PTCD2, SPEF2, ELOVL7, TRAPPC13, CPEB4, NDFIP1, FBXO38, YIPF5, TIGD6, ADAMTS12, SPRY4, NUDT12, SLC4A9, ATG10, SLC25A2, SPATA9, TSSK1B, FAM172A, ADGRV1, PCBD2, UTP15, ZCCHC9, PSD2, SLF1, THOC3, ZBED3, GFM2, CYSTM1, MEGF10, SPINK7, SPZ1, CARD6, HAVCR2, SMIM3, TSLP, FCHSD1, UNC5A, C5orf30, LYRM7, SLC25A46, BOD1, CDKN2AIPNL, TIMD4, NDUFAF2, ZNF300, MYOZ3, UBTD2, LMBRD2, MRPS36, ATP6AP1L, PRDM6, FTMT, SFXN1, FNIP1, SNX18, SLC35A4, GPRIN1, PWWP2A
See casesPathogenic
(Feb 1, 2016)
no assertion criteria providedVCV000442431
41.
GRCh37:
Chr5:113577-180719789
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, 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, CERT1, 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
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000441920
42.
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, CERT1, 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, YTHDC2, NSD1, SIL1, ARAP3, TMEM267, RMND5B, FBXL17, 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 providedVCV000441919
43.
GRCh37:
Chr5:168955293-170432136
See casesUncertain significance
(Mar 5, 2015)
no assertion criteria providedVCV000441595
44.
GRCh37:
Chr5:94844077-178830410
ADRA1B, ADRB2, ANXA6, APC, ATOX1, ALDH7A1, BNIP1, CAMK4, CAMK2A, CAMLG, CAST, CCNG1, CD14, CD74, CDC25C, CDO1, CDX1, CHD1, AP3S1, CLTB, CSF1R, CSF2, CSNK1A1, CSNK1G3, NKX2-5, CTNNA1, DBN1, DMXL1, DIAPH1, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F12, FABP6, FAT2, FBN2, FER, FGF1, FGFR4, FOXI1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GFRA3, GLRA1, GLRX, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, HARS, HINT1, HK3, HMMR, HNRNPAB, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR4, IK, IL3, IL4, IL5, IL9, IL12B, IL13, IRF1, ITK, KCNMB1, KCNN2, LCP2, LECT2, LMNB1, LNPEP, LOX, SMAD5, MAN2A1, MCC, MFAP3, MSX2, NDUFA2, NEUROG1, NPM1, PAM, PCDH1, PCDHGC3, PCSK1, PDE6A, PDGFRB, PFDN1, PGGT1B, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, PROP1, PURA, RARS, RPS14, SGCD, SKP1, SLC6A7, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRP19, STK10, TAF7, TCF7, ZNF354A, TCOF1, TGFBI, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, ST8SIA4, REEP5, NME5, PDLIM4, STC2, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, P4HA2, ATP6V0E1, ATG12, PTTG1, PDLIM7, NREP, CNOT8, HAND1, MED7, MYOT, ADAMTS2, NRG2, CXCL14, H2AFY, RNF14, SNCAIP, TTC37, CLINT1, PCDHGA8, PCDHA9, MATR3, DELE1, JAKMIP2, PJA2, DDX46, SLC23A1, GNPDA1, SRA1, RAD50, KIF20A, G3BP1, APBB3, TNIP1, SLU7, RGS14, SEC24A, CPLX2, FAXDC2, FAM114A2, BRD8, TCERG1, HNRNPA0, LMAN2, SPINK5, SOX30, KIF3A, B4GALT7, SYNPO, RHOBTB3, RNF44, ABLIM3, ELL2, HMGXB3, ARHGAP26, FSTL4, ATP10B, N4BP3, SEPTIN8, FAF2, PPIP5K2, WWC1, FBXW11, ACSL6, JADE2, LARP1, HARS2, ZNF346, TNFAIP8, GEMIN5, PCDHGA12, LRRTM2, CCDC69, PCDHB5, KLHL3, TSPAN17, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, MAT2B, SLC27A6, SNX24, MRPL22, PCDHB1, TLX3, KCNIP1, ZNF354C, TMED7, ISOC1, RPL26L1, SAR1B, DCTN4, MZB1, PAIP2, CDKL3, PCDH12, FAM13B, FAM53C, REEP2, PRR16, COMMD10, DDX41, NOP16, LARS, CXXC5, UIMC1, RAPGEF6, ERAP1, KDM3B, PHAX, RAB24, RBM27, NEURL1B, FAM193B, TMED9, ZCCHC10, CDHR2, GIN1, WDR55, ANKHD1, SPDL1, THG1L, TMCO6, TRIM36, GALNT10, NHP2, RBM22, RIOK2, 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, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, ZNF608, KCTD16, SEMA6A, PCDHB16, HMHB1, ZBED8, EPB41L4A, ERAP2, NSD1, SIL1, ARAP3, RMND5B, FBXL17, YTHDC2, RANBP17, GRAMD2B, PCYOX1L, CCNJL, SH3TC2, PANK3, SAP30L, TXNDC15, DOK3, ZFP2, CPEB4, PRR7, NDFIP1, FBXO38, YIPF5, TIGD6, SPRY4, MXD3, NUDT12, SLC4A9, SLC25A2, SPATA9, TSSK1B, PCBD2, PSD2, THOC3, CYSTM1, MEGF10, SPINK7, HAVCR2, PHYKPL, SMIM3, TSLP, FCHSD1, UNC5A, C5orf30, LYRM7, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, ZNF300, MYOZ3, UBTD2, PRDM6, FTMT, SFXN1, FNIP1, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, MARCH3, LEAP2, SCGB3A2, ZNF354B, SLCO6A1, C5orf47, PPARGC1B, PRRC1, C5orf58, ZNF474, AFAP1L1, GRPEL2, LSM11, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, SOWAHA, SHROOM1, C5orf24, DCANP1, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, SRFBP1, ZMAT2, ARSK, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, DCP2, LIX1, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, STK32A, LVRN, SLC36A1, EIF4E1B, EFCAB9, SH3PXD2B, FAM153A, ARL10, GPR150, DTWD2, RELL2, SLC36A3, KIF4B, ZNF454, RGMB, RFESD, CHSY3, TMEM173, FAM170A, ARSI, PFN3, ZNF879, IRGM, FAM174A, CATSPER3, NIPAL4, SLCO4C1, TICAM2, DND1, SIMC1, TEX43, PROB1, C5orf46, ARHGEF37, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, SPINK14, FNDC9, IGIP, MIR378A, TIFAB, CTXN3, ECSCR, TMEM232, GRXCR2, SPINK9, ARL14EPL, SMIM23, CCNI2, SNORA74B, SNHG4, VTRNA2-1, MINAR2, LOC100128059, INSYN2B, C5orf52, LOC100288254, TMED7-TICAM2
not providedLikely benign
(Jan 31, 2017)
criteria provided, single submitterVCV000425542
45.
GRCh37:
Chr5:164207156-172799124
See casesPathogenicno assertion criteria providedVCV000396069
46.
GRCh37:
Chr5:169141203-169714174
DOCK2, FOXI1, LCP2, C5orf58, INSYN2BSee casesUncertain significanceno assertion criteria providedVCV000395823
47.
GRCh37:
Chr5:106716357-180687338
SEC24A, CPLX2, FAXDC2, FAM114A2, BRD8, TCERG1, BTNL3, HNRNPA0, LMAN2, SPINK5, SOX30, KIF3A, MGAT4B, B4GALT7, SYNPO, RNF44, ABLIM3, HMGXB3, TBC1D9B, ARHGAP26, FSTL4, ATP10B, N4BP3, SEPTIN8, FAF2, WWC1, FBXW11, ACSL6, JADE2, LARP1, HARS2, ZNF346, TNFAIP8, GEMIN5, PCDHGA12, LRRTM2, CCDC69, PCDHB5, KLHL3, TSPAN17, OR2V1, HAVCR1, CYFIP2, PKD2L2, UQCRQ, AFF4, PRELID1, IL17B, MAT2B, SLC27A6, SNX24, MRPL22, PCDHB1, TLX3, KCNIP1, ZNF354C, TMED7, ISOC1, RPL26L1, SAR1B, MRNIP, DCTN4, MZB1, PAIP2, CDKL3, PCDH12, FAM13B, FAM53C, REEP2, PRR16, COMMD10, DDX41, NOP16, LARS, CXXC5, UIMC1, RAPGEF6, KDM3B, PHAX, RAB24, RBM27, NEURL1B, FAM193B, TMED9, ZCCHC10, CDHR2, WDR55, ANKHD1, SPDL1, THG1L, TMCO6, TRIM36, GALNT10, NHP2, RBM22, RNF130, 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, VTRNA1-3, VTRNA1-2, VTRNA1-1, NMUR2, FEM1C, C5orf15, CDC42SE2, TRPC7, KIAA1191, ERGIC1, CLK4, TENM2, CNOT6, ZNF608, KCTD16, SEMA6A, PCDHB16, HMHB1, ZBED8, EPB41L4A, NSD1, SIL1, ARAP3, RMND5B, FBXL17, YTHDC2, RANBP17, GRAMD2B, PCYOX1L, CCNJL, SH3TC2, PANK3, SAP30L, TXNDC15, BTNL8, DOK3, ZFP2, RUFY1, CPEB4, PRR7, NDFIP1, FBXO38, YIPF5, TRIM7, TIGD6, SPRY4, MXD3, SLC4A9, SLC25A2, TSSK1B, PCBD2, PSD2, THOC3, CYSTM1, MEGF10, SPINK7, TRIM52, HAVCR2, PHYKPL, SMIM3, TSLP, FCHSD1, UNC5A, LYRM7, TRIM41, SLC25A46, BOD1, CDKN2AIPNL, COL23A1, TIMD4, ZNF300, MYOZ3, UBTD2, SCGB3A1, PRDM6, FTMT, SFXN1, FNIP1, SLC35A4, GPRIN1, PWWP2A, C1QTNF2, MARCH3, LEAP2, SCGB3A2, ZNF354B, C5orf47, PPARGC1B, PRRC1, C5orf58, ZNF474, OR2Y1, AFAP1L1, GRPEL2, LSM11, GPR151, STARD4, WDR36, NUDCD2, UBLCP1, SOWAHA, SHROOM1, C5orf24, DCANP1, SLC36A2, SPINK13, CREBRF, CEP120, SLC25A48, SRFBP1, ZMAT2, BTNL9, CCDC112, FAM71B, PRELID2, SH3RF2, PLAC8L1, RNF145, DCP2, ADAMTS19, HIGD2A, SPATA24, DNAJC18, FAM153B, STK32A, LVRN, SLC36A1, EIF4E1B, RASGEF1C, EFCAB9, SH3PXD2B, FAM153A, ARL10, DTWD2, RELL2, SLC36A3, KIF4B, OR2V2, ZNF454, C5orf60, CHSY3, TMEM173, FAM170A, ARSI, PFN3, ZNF879, IRGM, CATSPER3, NIPAL4, TICAM2, DND1, SIMC1, TEX43, PROB1, C5orf46, ARHGEF37, C5orf63, SPINK6, ANKHD1-EIF4EBP3, MIR103A1, MIR143, MIR145, MIR146A, SPINK14, FNDC9, IGIP, MIR378A, TIFAB, CTXN3, ECSCR, TMEM232, GRXCR2, SPINK9, ZFP62, ARL14EPL, SMIM23, CCNI2, CBY3, SNORA74B, SNHG4, TRK-CTT2-3, VTRNA2-1, MINAR2, LOC100128059, INSYN2B, C5orf52, LOC100288254, TMED7-TICAM2, ADRA1B, ADRB2, ANXA6, APC, ATOX1, ALDH7A1, BNIP1, CAMK4, CAMK2A, CAMLG, CANX, CCNG1, CD14, CD74, CDC25C, CDO1, CDX1, AP3S1, CLTB, CSF1R, CSF2, CSNK1A1, CSNK1G3, NKX2-5, CTNNA1, DBN1, DMXL1, DIAPH1, DOCK2, DPYSL3, DRD1, SLC26A2, HBEGF, DUSP1, EBF1, EFNA5, EGR1, ETF1, F12, FABP6, FAT2, FBN2, FER, FGF1, FGFR4, FOXI1, FLT4, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GDF9, GFRA3, GLRA1, GM2A, GRK6, GPX3, GRIA1, NR3C1, GRM6, HARS, HINT1, HK3, HMMR, HNRNPAB, HNRNPH1, HRH2, HSD17B4, HSPA4, HSPA9, NDST1, HTR4, IK, IL3, IL4, IL5, IL9, IL12B, IL13, IRF1, ITK, KCNMB1, KCNN2, LCP2, LECT2, LMNB1, LOX, LTC4S, SMAD5, MAN2A1, MCC, MFAP3, MGAT1, MSX2, NDUFA2, NEUROG1, NPM1, PCDH1, PCDHGC3, PDE6A, PDGFRB, PFDN1, PGGT1B, PITX1, POU4F3, PPIC, PPP2CA, PPP2R2B, MAPK9, PROP1, PURA, RARS, RPS14, SGCD, SKP1, SLC6A7, SLC12A2, SLC34A1, SLC22A4, SLC22A5, SLIT3, SNCB, SNX2, SPARC, SPINK1, SPOCK1, SRP19, STK10, TAF7, TCF7, ZNF354A, TCOF1, TGFBI, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TTC1, UBE2B, UBE2D2, VDAC1, WNT8A, REEP5, NME5, PDLIM4, STC2, EIF4EBP3, PCDHGB4, CDC23, ADAM19, FGF18, HDAC3, SQSTM1, P4HA2, ATP6V0E1, ATG12, PTTG1, PDLIM7, NREP, CNOT8, HAND1, MED7, MYOT, ADAMTS2, NRG2, CXCL14, H2AFY, RNF14, SNCAIP, CLINT1, PCDHGA8, PCDHA9, MATR3, MAML1, DELE1, JAKMIP2, PJA2, DDX46, GFPT2, SLC23A1, GNPDA1, SRA1, RAD50, KIF20A, G3BP1, APBB3, TNIP1, RACK1, SLU7, RGS14
See casesPathogenicno assertion criteria providedVCV000394550
48.
GRCh37:
Chr5:154886174-169757448
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitterVCV000253504
49.
GRCh37:
Chr5:168761759-180712302
GRCh38:
Chr5:169334755-181285301