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Items: 60

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:92940347
GRCh38:
Chr1:92474790
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr1:92940353
GRCh38:
Chr1:92474796
GFI1Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr1:92940386
GRCh38:
Chr1:92474829
GFI1Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:92940411
GRCh38:
Chr1:92474854
GFI1Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:92940492
GRCh38:
Chr1:92474935
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:92940541
GRCh38:
Chr1:92474984
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:92940594
GRCh38:
Chr1:92475037
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:92940674
GRCh38:
Chr1:92475117
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:92940701
GRCh38:
Chr1:92475144
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:92940705
GRCh38:
Chr1:92475148
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:92940764
GRCh38:
Chr1:92475207
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr1:92940783
GRCh38:
Chr1:92475226
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:92940850
GRCh38:
Chr1:92475293
GFI1Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr1:92940954
GRCh38:
Chr1:92475397
GFI1Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:92940989
GRCh38:
Chr1:92475432
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:92941012
GRCh38:
Chr1:92475455
GFI1Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr1:92941179
GRCh38:
Chr1:92475622
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:92941208
GRCh38:
Chr1:92475651
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:92941271
GRCh38:
Chr1:92475714
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:92941331
GRCh38:
Chr1:92475774
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:92941357
GRCh38:
Chr1:92475800
GFI1Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:92941371
GRCh38:
Chr1:92475814
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:92941613
GRCh38:
Chr1:92476056
GFI1not specifiedLikely benigncriteria provided, single submitter
24.
GRCh37:
Chr1:92941647
GRCh38:
Chr1:92476090
GFI1Neutropenia, nonimmune chronic idiopathic, of adultsPathogenic
(Jul 1, 2003)
no assertion criteria provided
25.
GRCh37:
Chr1:92941667
GRCh38:
Chr1:92476110
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr1:92941710
GRCh38:
Chr1:92476153
GFI1Severe congenital neutropenia 2, autosomal dominantPathogenic
(Jul 1, 2003)
no assertion criteria provided
27.
GRCh37:
Chr1:92944188
GRCh38:
Chr1:92478631
GFI1not specified, Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:92944203
GRCh38:
Chr1:92478646
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr1:92944314-92944315
GRCh38:
Chr1:92478757-92478758
GFI1not specifiedBenign
(Mar 29, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr1:92944315-92944324
GRCh38:
Chr1:92478758-92478767
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr1:92944315-92944320
GRCh38:
Chr1:92478758-92478763
GFI1Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:92944315-92944318
GRCh38:
Chr1:92478758-92478761
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr1:92944315-92944324
GRCh38:
Chr1:92478758-92478767
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr1:92944315-92944316
GRCh38:
Chr1:92478758-92478759
GFI1Severe congenital neutropeniaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr1:92944315-92944328
GRCh38:
Chr1:92478758-92478771
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:92944315-92944322
GRCh38:
Chr1:92478758-92478765
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr1:92944315-92944318
GRCh38:
Chr1:92478758-92478761
GFI1not specified, Severe congenital neutropeniaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr1:92944316-92944317
GRCh38:
Chr1:92478759-92478760
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr1:92946037
GRCh38:
Chr1:92480480
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr1:92946147
GRCh38:
Chr1:92480590
GFI1not specifiedLikely benigncriteria provided, single submitter
41.
GRCh37:
Chr1:92946226
GRCh38:
Chr1:92480669
GFI1not specifiedLikely benign
(Nov 18, 2015)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:92946296
GRCh38:
Chr1:92480739
GFI1not specified, Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:92946356
GRCh38:
Chr1:92480799
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr1:92946479
GRCh38:
Chr1:92480922
GFI1not specified, Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:92946513
GRCh38:
Chr1:92480956
GFI1not specifiedUncertain significance
(Aug 30, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr1:92946625
GRCh38:
Chr1:92481068
GFI1not specified, Severe congenital neutropeniaLikely benign
(Jan 19, 2017)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr1:92946633
GRCh38:
Chr1:92481076
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr1:92948551
GRCh38:
Chr1:92482994
GFI1not specified, Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:92948901-92948920
GRCh38:
Chr1:92483344-92483363
GFI1not specifiedBenigncriteria provided, single submitter
50.
GRCh37:
Chr1:92948938
GRCh38:
Chr1:92483381
GFI1not specified, Severe congenital neutropeniaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr1:92949051
GRCh38:
Chr1:92483494
GFI1not specifiedConflicting interpretations of pathogenicity
(May 3, 2016)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr1:92949098
GRCh38:
Chr1:92483541
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:92949134
GRCh38:
Chr1:92483577
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr1:92949150
GRCh38:
Chr1:92483593
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr1:92952357
GRCh38:
Chr1:92486800
GFI1Severe congenital neutropeniaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr1:92952392
GRCh38:
Chr1:92486835
GFI1Severe congenital neutropeniaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr1:92751767-92958556
GFI1, GLMN, RPAP2See casesUncertain significance
(Jul 6, 2015)
no assertion criteria provided
58.
GRCh37:
Chr1:849467-249224684
ABCA4, ABL2, ACADM, ACTA1, ACTN2, ADAR, ADORA1, ADORA3, PARP1, ADSS, AGL, AGT, AK2, AK4, ALDH9A1, ALPL, ALX3, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, APCS, APOA2, FASLG, ARF1, RHOC, ARNT, ASTN1, SERPINC1, ATF3, RERE, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5F1, ATP6V0B, AVPR1B, ADGRB2, BCL9, BGLAP, BMP8B, BRDT, C1QA, C1QB, C1QC, C4BPA, C4BPB, C8A, C8B, CA6, CACNA1E, CACNA1S, CAPN2, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, RUNX3, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD247, CD5L, TNFRSF8, CD34, CD48, CD53, CD58, CDA, CDK11B, CDC20, CDC42, CDKN2C, CD52, CENPF, RCC1, CHI3L1, CHI3L2, CHIT1, CHML, LYST, CHRM3, CHRNB2, CKS1B, CLCA1, CLCN6, CLCNKA, CLCNKB, CLK2, PLK3, CNN3, CNR2, COL8A2, COL9A2, COL11A1, COL16A1, COPA, CORT, CPT2, CR1, CR1L, CR2, CRABP2, CRP, CRYZ, CSF1, CSF3R, CSRP1, CTBS, CTH, CTPS1, CTSE, CTSK, CTSS, CYP2J2, CYP4A11, CYP4B1, DAB1, CD55, DBT, GADD45A, DDOST, DHX9, DFFA, DFFB, DHCR24, DIO1, DPH2, DPT, DPYD, DR1, DVL1, E2F2, ECE1, ECM1, S1PR1, EDN2, PHC2, EIF2D, EFNA1, EFNA3, EFNA4, CELSR2, MEGF6, EPHA2, ELAVL4, ELF3, ELK4, ENO1, ENSA, EPB41, EPHA8, EPHB2, EPHX1, EPRS, EPS15, ESRRG, ETV3, EXTL1, EXTL2, EYA3, F3, F5, F13B, FAAH, FABP3, FCER1A, FCER1G, FCGR1A, FCGR1B, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FGR, FH, FHL3, FOXE3, FOXD2, FLG, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, MTOR, NR5A2, FUCA1, ACKR1, IFI6, GABRD, GALE, GALNT2, GBA, GBP1, GBP2, GBP3, GFI1, GJA4, GJA5, GJA8, GJB3, GJB5, GCLM, GLUL, GNAI3, GNAT2, GNB1, GNG4, GNG5, SFN, GPR3, GPR25, GPX7, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H3F3A, HCRTR1, HDAC1, HDGF, CFH, CFHR1, CFHR2, ZBTB48, MR1, HLX, HMGN2, HMGCL, HMGCS2, HNRNPU, HPCA, HSD3B1, HSD3B2, HSD11B1, HSPA6, HSPA7, IGSF3, HSPG2, HTR1D, HTR6, ID3, IFI16, CYR61, IL6R, IL10, IL12RB2, TNFRSF9, ILF2, INPP5B, INSRR, IPP, IRF6, ITPKB, IVL, JAK1, JUN, KCNA2, KCNA3, KCNA10, KCNC4, KCND3, KCNH1, KCNJ9, KCNJ10, KCNK1, KCNK2, KCNN3, KISS1, LAD1, LAMB3, LAMC1, LAMC2, STMN1, LBR, LCK, LEPR, LGALS8, LMNA, LMX1A, LOR, LY9, TACSTD2, MAGOH, MARK1, MATN1, MCL1, CD46, SMCP, MDM4, MEF2D, MFAP2, MGST3, MNDA, MOV10, MPL, MPZ, MSH4, MTF1, MTHFR, MTR, MTX1, MUC1, MUTYH, MYBPH, MYCL, MYOC, MYOG, PPP1R12B, NASP, NBL1, NCF2, NDUFS2, NDUFS5, NEK2, NFIA, NFYC, NGF, NHLH1, NHLH2, NID1, NIT1, NOTCH2, NPPA, NPPB, NPR1, NRAS, NRDC, YBX1, NTRK1, ROR1, DDR2, NVL, OPRD1, ORC1, OVGP1, PAFAH2, PRDX1, PAX7, PBX1, CDK18, PDC, PDE4B, PDZK1, PEX10, PEX14, PFDN2, PFKFB2, PGD, PGM1, PIGC, PIGR, PIK3C2B, PIK3CD, PI4KB, PIN1P1, PKLR, PKP1, PLA2G2A, PLA2G4A, PLA2G5, PLOD1, PLXNA2, EXOSC10, PRRX1, POU2F1, POU3F1, PPOX, PPP1R8, PPP2R5A, PPT1, PRCC, PRELP, PRKAA2, PRKAB2, PRKACB, PKN2, PRKCZ, PROX1, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PTAFR, PTGER3, PTGFR, PTGFRN, PTGS2, QSOX1, PTPN7, PTPN14, PTPRC, PTPRF, PEX19, ABCD3, RAB3B, RAB4A, RAB13, RABGGTB, RABIF, RAP1A, RAP1GAP, RBBP4, RBBP5, REN, RFX5, RGS1, RGS2, RGS4, RGS7, RGS13, RGS16, RHCE, RHD, RIT1, RLF, RNASEL, RNF2, RNPEP, RNU1-4, SNORA73A, SNORD21, RORC, RPA2, RPE65, RPL5, RPL11, RPL22, RPS6KA1, RPS8, RPS27, RSC1A1, RXRG, RYR2, S100A1, SORT1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, SARS, SCNN1D, SCP2, XCL1, SDHB, SDHC, SELE, SELL, SELP, SFPQ, SRSF4, SHC1, ST3GAL3, STIL, SKI, SLAMF1, SLC1A7, SLC2A1, SLC2A5, SLC6A9, SLC9A1, SLC16A1, SNRPE, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SRM, SRP9, TROVE2, SSR2, STXBP3, XCL2, SYCP1, TAF12, TAF13, TAL1, TARBP1, CNTN2, TBCE, TBX15, TCEA3, ELOA, VPS72, TGFB2, LEFTY2, TGFBR3, THBS3, TCHH, TIE1, TLR5, GPR137B, TNFRSF1B, TNNI1, TNNT2, TNR, TP53BP2, TP73, TPM3, TPR, TRAF5, TRE-TTC3-1, TRNAG1, CCT3, TRN-GTT2-1, TSHB, TSNAX, TTC4, TUFT1, TNFSF4, TNFRSF4, UCK2, UQCRH, UROD, USF1, USP1, USH2A, VCAM1, VDAC1P4, WNT2B, WNT9A, ZSCAN20, ZNF124, ZBTB17, SLC30A1, SLC30A2, LUZP1, PRDM2, DNALI1, LRP8, LAPTM5, BSND, CSDE1, EVI5, DAP3, NPHS2, BTG2, PTP4A2, ARID1A, HIST3H3, CDC7, HIST2H2AA3, HIST2H2AC, HIST2H2BE, HIST2H4A, PIP5K1A, TAGLN2, BCAR3, ANXA9, SNHG3, NR0B2, RAD54L, GNPAT, DYRK3, TTF2, CDC42BPA, RGS5, PPFIA4, PIK3R3, MMP23B, MMP23A, KCNAB2, ITGA10, LMO4, FCN3, BLZF1, CDC14A, DEGS1, KMO, YARS, MKNK1, AKR7A2, PLPP3, RTCA, PTCH2, ALDH4A1, EIF3I, EIF4G3, VAMP4, PEA15, B4GALT3, B4GALT2, B3GALT2, TNFRSF25, ADAM15, PABPC4, TNFRSF14, TNFRSF18, FPGT, PEX11B, CREG1, CD84, PER3, FUBP1, EIF2B3, BCL10, RAB29, SELENBP1, TNFSF18, TAF1A, MPZL1, SH2D2A, ARTN, MAP3K6, ANGPTL1, DIRAS3, TBX19, FCGR2C, SLC16A4, PRPF3, KCNQ4, EXO1, ARHGEF2, DEDD, ZMYM4, ZMYM6, XPR1, FCMR, DHRS3, MAPKAPK2, GPR37L1, GPR52, SRSF11, VAMP3, ZFYVE9, CD101, SELENOF, ZRANB2, SNRNP40, ARHGAP29, AIM2, GGPS1, RASAL2, THEMIS2, ADAMTS4, TMEM59, CHD1L, H6PD, SOX13, PRDX6, CLCA3P, CLCA2, ISG15, IKBKE, PLCH2, HS2ST1, PDE4DIP, IPO13, SDC3, SLC25A44, KIAA0040, KDM4A, CROCC, PUM1, NOS1AP, TMEM63A, CEP104, RIMS3, TOMM20, EFCAB14, URB2, ARHGEF11, DNAJC6, CEP350, CEP170, LRIG2, SETDB1, ZC3H11A, SMG7, PLPPR4, UBAP2L, SV2A, KLHL21, SLC35E2, DENND4B, RABGAP1L, TMCC2, FAM20B, ZBTB40, LPGAT1, MFN2, KIF14, RBM8A, THRAP3, NR1I3, AKT3, INSL5, PIGK, SCAMP3, PTPRU, ARPC5, TSPAN2, TSPAN1, CELA3A, PDZK1IP1, WASF2, PATJ, PRG4, ANGPTL7, GPA33, STX6, HNRNPR, SRRM1, CNKSR1, SF3B4, ZMPSTE24, UBE4B, BCAS2, AKR1A1, WARS2, BPNT1, CEPT1, PIAS3, TESK2, TIMM17A, LRRN2, PPIE, VAV3, HAX1, MAD2L2, PPIH, ZBTB18, C1orf61, CAP1, LRRC41, SEMA6C, LAMTOR5, SLC19A2, IFI44, POLR3C, IVNS1ABP, TXNIP, PDPN, LEFTY1, SPHAR, PMVK, KHDRBS1, GMEB1, FAM189B, AP4B1, NUDC, PHTF1, MASP2, CAPN9, NES, KDM5B, AHCYL1, SRSF10, SDCCAG8, CFHR4, CFHR3, WDR3, OCLM, JTB, MTMR11, MAN1A2, UTS2, SF3A3, MLLT11, IFI44L, EBNA1BP2, SLC27A3, KIF2C, IL24, TDRKH, RER1, DNAJB4, ADAM30, RCAN3, FAF1, CD160, GLMN, HHLA3, CELF3, DDX20, DUSP10, MST1L, PADI2, PMF1, DUSP12, VPS45, LYPLA2, PARK7, CTRC, ACOT7, COG2, CLCA4, MTF2, DNAJC8, NTNG1, PLEKHA6, CLSTN1, FOXJ3, KHDC4, WDR47, KIFAP3, ATF6, SCMH1, AKR7A3, TTC39A, SPEN, KDM1A, RBM34, USP33, WDTC1, KIF21B, NMNAT2, EMC1, KIF1B, NFASC, POGZ, COLGALT2, MAST2, NCDN, CLCC1, SLC35D1, RGL1, PLEKHM2, SYT11, PRRC2C, FBXO28, RPRD2, OTUD3, KAZN, CAMTA1, ADGRL2, CAMSAP2, KIAA1107, ZCCHC11, SZT2, DNAJC16, UBR4, USP24, SRGAP2, SMG5, NCSTN, ATP13A2, CRB1, ITGB3BP, GPR161, TARDBP, CELA3B, SLC35A3, ABCB10, ICMT, MACF1, LRRC8B, ZNF281, SNAPIN, LPAR3, PADI4, DDAH1, TMEM50A, OPN3, PHLDA3, RUSC1, CA14, KPNA6, SSBP3, STX12, DSTYK, RAB3GAP2, CFAP45, LMOD1, MPC2, TRIM58, INTS7, OLFML2B, AHCTF1, C1orf43, CLIC4, NSL1, SYF2, RWDD3, PARS2, MMACHC, ZZZ3, ACOT11, CHD5, DNM3, TOR1AIP1, CHTOP, SZRD1, LDLRAP1, SERBP1, NOC2L, OR1C1, PTPN22, PHGDH, FBXO2, LCE2B, OR2M4, OR2L2, OPTC, FBXO6, PLA2G2D, AK5, MYCBP, OR10J1, HEYL, AGO1, OR2T1, RPS6KC1, RNF11, USP21, FOXD3, DIEXF, TRAPPC3, TAF5L, CACYBP, HSPB7, CHIA, SLC39A1, DISC2, DISC1, ARHGEF16, AHDC1, RNF115, KLHL20, TEKT2, SMPDL3B, ANGPTL3, LAMTOR2, FLVCR1, UBE2T, CNIH4, SSU72, TMOD4, GNL2, GPSM2, UBIAD1, PYCR2, NME7, ALG6, NENF, PADI1, IL19, CERS2, SLC25A24, PLA2G2E, DNTTIP2, WRAP73, CRNN, G0S2, IL20, SLC45A1, DCAF8, HP1BP3, F11R, TMED5, RRP15, GLRX2, BOLA1, DESI2, CELA2B, ZNF593, ZBTB7B, ZNF691, TXNDC12, TNNI3K, RRNAD1, ADIPOR1, SCCPDH, SH3GLB1, MECR, APH1A, UTP11, TRIM17, KCTD3, SDF4, MRTO4, PLEKHO1, HAO2, ACP6, TMEM69, MRPL37, IER5, HOOK1, SNX7, UCHL5, SUCO, HPCAL4, YTHDF2, GPR89B, HSD17B7, UFC1, DTL, ZCCHC17, TRIM33, METTL13, DPH5, HSPB11, OAZ3, PADI3, CYB5R1, CMPK1, ARID4B, CD244, GPR88, ERRFI1, DPM3, WNT4, YIPF1, FBXO42, MRPS21, TRMT13, TMCO1, ADAMTSL4, CRCT1, RNF186, SPATA6, EGLN1, MXRA8, L1TD1, HES2, MAP10, RSBN1, ZNHIT6, GPN2, LEPROT, FBLIM1, MED18, TRIT1, GIPC2, SWT1, GDAP2, FAM46C, GON4L, GPATCH4, PALMD, FNBP1L, ST7L, PQLC2, CASZ1, LAX1, RHBDL2, DUSP23, ADPRHL2, TRNAU1AP, ODR4, C1orf109, C1orf56, INTS11, C1orf123, C1orf159, MARC2, AURKAIP1, TTC22, MRPL20, CRYBG2, SUSD4, KIF26B, TMEM51, RALGPS2, GPATCH2, BSDC1, XKR8, TMEM39B, PRPF38B, HEATR1, CDCA8, LRRC8D, MSTO1, DARS2, ARHGEF10L, PRMT6, RNF220, VPS13D, EVA1B, GOLPH3L, ATAD3A, TMEM57, KLHDC8A, TRIM62, ETNK2, RAVER2, PANK4, KIRREL1, TMEM206, YY1AP1, ECHDC2, FGGY, MCOLN3, SLC22A15, YOD1, CAMK2N1, BATF3, SLC30A10, UBE2Q1, RNPC3, ITLN1, ASAP3, POMGNT1, PNRC2, LRRC40, DEPDC1, PIGV, ZNF692, NBPF1, IARS2, MAP7D1, IPO9, NDC1, NECAP2, IQCC, C1orf112, HHAT, DNAJC11, ENAH, NUP133, RCOR3, C1orf106, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, FAM212B, DMAP1, AJAP1, GNG12, SLC50A1, TMEM234, MTFR1L, SERTAD4, KYAT3, ERO1B, FMN2, SLAMF8, CDC42SE1, UBQLN4, TMEM167B, OLFML3, SMYD2, LHX9, OTUD7B, COQ8A, CTNNBIP1, RSRP1, AGTRAP, PITHD1, RAB25, PGLYRP4, ZNF695, RHBG, MAN1C1, SCYL3, GJC2, CAMK1G, NIPAL3, SELENON, ATP8B2, VANGL2, PBXIP1, S100A14, PLEKHG5, GATAD2B, AMIGO1, LRRC47, ODF2L, CGN, KIAA1324, DISP3, IGSF9, LRRC7, SIPA1L2, KIF17, ZNF687, ZSWIM5, POGK, KIAA1522, HCN3, CACHD1, MIER1, KIAA1614, BRINP2, HES4, CCDC181, GRHL3, SLAMF7, ZP4, CADM3, PTBP2, RHOU, PRUNE1, DNASE2B, DLGAP3, IL22RA1, HIVEP3, KLHL12, LGR6, GPBP1L1, HAPLN2, MIIP, GAS5, PAPPA2, CELA2A, BCAN, GPATCH3, TNN, MRPS14, DMRTB1, DMRTA2, CLSPN, PRDM16, OXCT2, RRAGC, ADGRL4, TINAGL1, P3H1, TFB2M, SEMA4A, TOR3A, RFWD2, GREM2, RGS18, PLA2G2F, MFSD14A, NUCKS1, SMAP2, ACBD3, SMYD3, ATPAF1, MARC1, S100PBP, MEAF6, RBM15, EXO5, CEP85, ARV1, NMNAT1, ELOVL1, AIDA, VWA1, DCLRE1B, MRPS15, MRPL9, PINK1, JMJD4, MARCKSL1, PRAMEF1, PRAMEF2, INTS3, NADK, ZFP69B, COA7, PHACTR4, AUNIP, SCNM1, ERI3, C1orf50, WDR77, C1orf116, CCDC28B, C1orf35, EFHD2, MMEL1, RSG1, FCRL2, NKAIN1, TTC13, EPS8L3, CDC73, MRPL24, MUL1, PGBD5, TNFAIP8L2, C1orf54, TMEM53, AKIRIN1, HECTD3, BEND5, VTCN1, YRDC, ZYG11B, NOL9, PPCS, LIN28A, SH3D21, TTLL7, SNIP1, C1orf115, HHIPL2, VASH2, AGMAT, WDR78, ZMYM1, ZNF669, RPAP2, ZNF672, MORN1, FAM110D, KIAA0319L, DHDDS, PAQR6, DENND2D, WLS, PCNX2, GPR157, TRIM46, MROH9, RPF1, SIKE1, ZC3H12A, SPSB1, TARS2, WDR26, TRIM45, EDEM3, FLAD1, TRAF3IP3, CPTP, ZNF436, TAS1R2, TAS1R1, SH3BP5L, NPL, GJA9, OR6N2, OR6K2, OR2L5, OR2G3, OR2G2, OR2C3, SYNC, CFHR5, TRIM11, C1orf21, ACTL8, ANKRD13C, NECTIN4, SNX27, ANP32E, SHCBP1L, TRMT1L, TSSK3, CCNL2, NUAK2, VANGL1, ST6GALNAC5, ISG20L2, HYI, FCRL5, FCRL4, SH3BGRL3, DDX59, NUF2, RASSF5, SESN2, ESPN, TAS1R3, ATAD3B, HMCN1, GPR61, MIXL1, STK40, SPRTN, TM2D1, FCAMR, REG4, OBSCN, TMEM222, TEX35, PLEKHN1, HORMAD1, TOMM40L, SYDE2, ZNF644, USP48, ZMYND12, NBPF3, LRRC8C, ZDHHC18, SGIP1, POLR3GL, SLC25A33, TMEM79, NTPCR, EFCAB2, DDI2, ACBD6, LZIC, PROK1, MAP3K21, EFCAB7, ZBTB37, NT5C1A, LCE3D, TRIM63, PSRC1, FAM167B, FCRLA, ZNF496, HPDL, AGBL4, MFSD2A, C1orf198, PPP1R15B, ATG4C, MAEL, PRPF38A, SYTL1, IGSF21, LSM10, C1orf94, DISP1, STRIP1, RGS8, SLC45A3, DOCK7, CFAP74, WNT3A, NAV1, SEC16B, AQP10, LHX4, SLAMF9, KIAA2013, THAP3, STPG1, PYGO2, ANGEL2, SPOCD1, ZNF697, IGFN1, NUP210L, BTF3L4, UBXN11, NEXN, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, TMEM183A, HIST3H2A, PIGM, IGSF8, C1orf158, LEMD1, ZNF670, FBXO44, ATPIF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, GNRHR2, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, FAM46B, COX20, RBP7, TSEN15, FAM129A, SNAP47, ACAP3, TADA1, THEM4, SH2D1B, SSX2IP, UBE2J2, OLFM3, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KDF1, CCSAP, LRRC38, AADACL3, PUSL1, B3GALT6, WDR63, KLHDC9, AXDND1, MAB21L3, IFFO2, HIST2H3C, SLC44A3, ATXN7L2, C1orf194, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, ATP6V1G3, ASB17, TYW3, ERICH3, LRRIQ3, TPRG1L, FAM213B, MYOM3, DMBX1, OR10J5, TMCO2, ZNF684, TCEANC2, PODN, LRRC39, GJB4, HMGB4, RNF19B, A3GALT2, DCST2, DNAH14, OR2B11, ZNF648, TEDDM1, C1orf122, OSCP1, C1orf216, KLHDC7A, VWA5B1, UBXN10, C1orf87, ARL8A, SYT2, GOLT1A, UHMK1, FCRLB, WDR64, C1orf131, LIX1L, SPATA17, EDARADD, KLF17, TMEM125, TSACC, IQGAP3, NAXE, ARHGEF19, MRPL55, HIST3H2BB, DRAM2, PIFO, C1orf162, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, TATDN3, S100A16, NEK7, ACTRT2, MIB2, ITLN2, SYT6, C1orf74, CREB3L4, C1orf127, BROX, SAMD11, SAMD13, C1orf52, PHF13, CIART, TMEM56, NBPF4, UBE2U, SLC35F3, HFE2, ANKRD35, FAM163A, B3GALNT2, MFSD4A, PM20D1, GCSAML, SLC30A7, CCDC27, KNCN, MOB3C, GLIS1, NBPF12, LELP1, RC3H1, DCDC2B, ZNF362, DCST1, CNIH3, MANEAL, IL23R, METTL11B, FAM78B, SHISA4, EXOC8, PDIK1L, BNIPL, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CCDC17, LRRC71, SRARP, RNF187, PYHIN1, SPATA45, FAM71A, SLC2A7, DENND2C, GBP6, FNDC7, DENND1B, TDRD5, TOR1AIP2, CALML6, IFNLR1, CITED4, LEXM, SPRR4, KANK4, SASS6, SDE2, CNST, FAM43B, HFM1, PAQR7, TTC24, CCDC185, UBL4B, AGO3, AGO4, LCE4A, ALG14, FAM76A, FYB2, TMEM201, TMEM61, CYP4Z1, FAAP20, CDCP2, SLC5A9, CC2D1B, NBPF11, NUDT17, TXLNA, TCTEX1D1, PLD5, C1orf100, SPAG17, SLFNL1, KRTCAP2, CRTC2, IBA57, HIPK1, SLC44A5, ATAD3C, AKR7L, TMEM9, FNDC5, EPHX4, TTLL10, AKNAD1, SLC41A1, OR2T6, LCE5A, TMCO4, MCOLN2, COL24A1, PCSK9, SYT14, ST6GALNAC3, CATSPERE, ZNF683, ARHGAP30, CFAP126, NEGR1, ASPM, MDS2, CYP4X1, MAGI3, TIPRL, NPHP4, BEST4, PGBD2, FAM19A3, RIIAD1, THEM5, C1orf167, OR2L13, SLC9C2, OR14A16, CYP4A22, C1orf185, NBPF15, FAM102B, SYPL2, CYB561D1, ANKRD34A, RUSC1-AS1, RSPO1, EPHA10, SNHG28, SPATA46, ZNF326, BTBD8, RIMKLA, SLC25A34, LIN9, VN1R5, HIST2H2AB, PPM1J, HIST2H3A, FAM151A, S100A7A, LINGO4, RXFP4, ANKRD45, C1orf174, KLHL17, TMEM240, TMEM52, BRINP3, ZBTB8OS, TFAP2E, ZNF678, PRSS38, CCDC190, C1orf228, ZFP69, RD3, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, CCDC18, OR6F1, OR2W3, OR2T8, OR2T3, MYBPHL, OR10R2, FCRL6, KCNT2, BARHL2, NBPF7, TCTEX1D4, OR2T29, SERINC2, SHISAL2A, FAM131C, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PADI6, RGSL1, BMP8A, IRF2BP2, ZBTB41, DRAXIN, SPATA21, SVBP, TEX38, MROH7, MIGA1, PEAR1, SFT2D2, MIA3, STUM, FAM89A, AGRN, CENPS, CATSPER4, NSUN4, GPR153, ILDR2, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, TRNP1, CD164L2, TRABD2B, LDLRAD1, GBP7, C1orf146, FAM69A, SLC6A17, NOTCH2NL, LYSMD1, HRNR, FLG2, C1orf189, C1orf53, TMEM81, CAPN8, COA6, C1orf229, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, UOX, FRRS1, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, TMEM200B, PRAMEF4, PRAMEF13, SH2D5, NCMAP, C1orf141, C1orf226, NBPF9, FAM177B, RNF223, LDLRAD2, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, APOBEC4, MIR101-1, MIR137, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR181A1, MIR214, MIR215, MIR29C, MIR30C1, MIR34A, MIR9-1, RGS21, LHX8, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, FAM183A, ZYG11A, BCL2L15, HIST2H2BF, ETV3L, LRRC52, RHEX, TRIM67, MAP1LC3C, ANKRD65, PRAMEF7, OR10J3, OR2W5, OR13G1, KPRP, LCE6A, RBMXL1, LURAP1, PEF1, MIR429, FAM72C, HIST2H4B, PRR9, C1orf147, CYB5RL, MIR205HG, FLVCR1-AS1, CYMP, KIAA0754, TMEM88B, FNDC10, PPIAL4G, PPIAL4D, PRAMEF19, PRAMEF20, MT1HL1, S100A7L2, LACTBL1, LYPD8, SRGAP2B, ASCL5, ZBTB8A, NBPF6, SRGAP2C, PPIAL4A, GPR89A, PPIAL4C, HIST2H3D, PRAMEF22, PRAMEF15, FAM72B, PRAMEF16, PCP4L1, MIR551A, HIST2H2AA4, ZBTB8B, CCDC30, CDK11A, SLC35E2B, FAM72D, NBPF8, PPIAL4F, TEX46, FAM72A, PPIAL4E, PFN1P2, FAM229A, C1orf132, BTNL10, C1orf68, TSTD1, FOXO6, LINC01783, NBPF10, FCGR1CP, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, HYDIN2, ZBED6, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, NBPF5P, CENPS-CORT, FPGT-TNNI3K, PMF1-BGLAP, MINOS1-NBL1, DNM3OS, NEGR1-IT1, ZRANB2-AS2, LINC00538, FALEC, LINC00853, LOC100996263, LOC101927434, LOC101927851, LOC101928034, LINC01649, LOC101929516
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
59.
GRCh37:
Chr1:849467-249224684
ABCA4, ABL2, ACADM, ACTA1, ACTN2, ADAR, ADORA1, ADORA3, PARP1, ADSS, AGL, AGT, AK2, AK4, ALDH9A1, ALPL, ALX3, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, APCS, APOA2, FASLG, ARF1, RHOC, ARNT, ASTN1, SERPINC1, ATF3, RERE, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5F1, ATP6V0B, AVPR1B, ADGRB2, BCL9, BGLAP, BMP8B, BRDT, C1QA, C1QB, C1QC, C4BPA, C4BPB, C8A, C8B, CA6, CACNA1E, CACNA1S, CAPN2, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, RUNX3, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD247, CD5L, TNFRSF8, CD34, CD48, CD53, CD58, CDA, CDK11B, CDC20, CDC42, CDKN2C, CD52, CENPF, RCC1, CHI3L1, CHI3L2, CHIT1, CHML, LYST, CHRM3, CHRNB2, CKS1B, CLCA1, CLCN6, CLCNKA, CLCNKB, CLK2, PLK3, CNN3, CNR2, COL8A2, COL9A2, COL11A1, COL16A1, COPA, CORT, CPT2, CR1, CR1L, CR2, CRABP2, CRP, CRYZ, CSF1, CSF3R, CSRP1, CTBS, CTH, CTPS1, CTSE, CTSK, CTSS, CYP2J2, CYP4A11, CYP4B1, DAB1, CD55, DBT, GADD45A, DDOST, DHX9, DFFA, DFFB, DHCR24, DIO1, DPH2, DPT, DPYD, DR1, DVL1, E2F2, ECE1, ECM1, S1PR1, EDN2, PHC2, EIF2D, EFNA1, EFNA3, EFNA4, CELSR2, MEGF6, EPHA2, ELAVL4, ELF3, ELK4, ENO1, ENSA, EPB41, EPHA8, EPHB2, EPHX1, EPRS, EPS15, ESRRG, ETV3, EXTL1, EXTL2, EYA3, F3, F5, F13B, FAAH, FABP3, FCER1A, FCER1G, FCGR1A, FCGR1B, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FGR, FH, FHL3, FOXE3, FOXD2, FLG, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, MTOR, NR5A2, FUCA1, ACKR1, IFI6, GABRD, GALE, GALNT2, GBA, GBP1, GBP2, GBP3, GFI1, GJA4, GJA5, GJA8, GJB3, GJB5, GCLM, GLUL, GNAI3, GNAT2, GNB1, GNG4, GNG5, SFN, GPR3, GPR25, GPX7, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H3F3A, HCRTR1, HDAC1, HDGF, CFH, CFHR1, CFHR2, ZBTB48, MR1, HLX, HMGN2, HMGCL, HMGCS2, HNRNPU, HPCA, HSD3B1, HSD3B2, HSD11B1, HSPA6, HSPA7, IGSF3, HSPG2, HTR1D, HTR6, ID3, IFI16, CYR61, IL6R, IL10, IL12RB2, TNFRSF9, ILF2, INPP5B, INSRR, IPP, IRF6, ITPKB, IVL, JAK1, JUN, KCNA2, KCNA3, KCNA10, KCNC4, KCND3, KCNH1, KCNJ9, KCNJ10, KCNK1, KCNK2, KCNN3, KISS1, LAD1, LAMB3, LAMC1, LAMC2, STMN1, LBR, LCK, LEPR, LGALS8, LMNA, LMX1A, LOR, LY9, TACSTD2, MAGOH, MARK1, MATN1, MCL1, CD46, SMCP, MDM4, MEF2D, MFAP2, MGST3, MNDA, MOV10, MPL, MPZ, MSH4, MTF1, MTHFR, MTR, MTX1, MUC1, MUTYH, MYBPH, MYCL, MYOC, MYOG, PPP1R12B, NASP, NBL1, NCF2, NDUFS2, NDUFS5, NEK2, NFIA, NFYC, NGF, NHLH1, NHLH2, NID1, NIT1, NOTCH2, NPPA, NPPB, NPR1, NRAS, NRDC, YBX1, NTRK1, ROR1, DDR2, NVL, OPRD1, ORC1, OVGP1, PAFAH2, PRDX1, PAX7, PBX1, CDK18, PDC, PDE4B, PDZK1, PEX10, PEX14, PFDN2, PFKFB2, PGD, PGM1, PIGC, PIGR, PIK3C2B, PIK3CD, PI4KB, PIN1P1, PKLR, PKP1, PLA2G2A, PLA2G4A, PLA2G5, PLOD1, PLXNA2, EXOSC10, PRRX1, POU2F1, POU3F1, PPOX, PPP1R8, PPP2R5A, PPT1, PRCC, PRELP, PRKAA2, PRKAB2, PRKACB, PKN2, PRKCZ, PROX1, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PTAFR, PTGER3, PTGFR, PTGFRN, PTGS2, QSOX1, PTPN7, PTPN14, PTPRC, PTPRF, PEX19, ABCD3, RAB3B, RAB4A, RAB13, RABGGTB, RABIF, RAP1A, RAP1GAP, RBBP4, RBBP5, REN, RFX5, RGS1, RGS2, RGS4, RGS7, RGS13, RGS16, RHCE, RHD, RIT1, RLF, RNASEL, RNF2, RNPEP, RNU1-4, SNORA73A, SNORD21, RORC, RPA2, RPE65, RPL5, RPL11, RPL22, RPS6KA1, RPS8, RPS27, RSC1A1, RXRG, RYR2, S100A1, SORT1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, SARS, SCNN1D, SCP2, XCL1, SDHB, SDHC, SELE, SELL, SELP, SFPQ, SRSF4, SHC1, ST3GAL3, STIL, SKI, SLAMF1, SLC1A7, SLC2A1, SLC2A5, SLC6A9, SLC9A1, SLC16A1, SNRPE, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SRM, SRP9, TROVE2, SSR2, STXBP3, XCL2, SYCP1, TAF12, TAF13, TAL1, TARBP1, CNTN2, TBCE, TBX15, TCEA3, ELOA, VPS72, TGFB2, LEFTY2, TGFBR3, THBS3, TCHH, TIE1, TLR5, GPR137B, TNFRSF1B, TNNI1, TNNT2, TNR, TP53BP2, TP73, TPM3, TPR, TRAF5, TRE-TTC3-1, TRNAG1, CCT3, TRN-GTT2-1, TSHB, TSNAX, TTC4, TUFT1, TNFSF4, TNFRSF4, UCK2, UQCRH, UROD, USF1, USP1, USH2A, VCAM1, VDAC1P4, WNT2B, WNT9A, ZSCAN20, ZNF124, ZBTB17, SLC30A1, SLC30A2, LUZP1, PRDM2, DNALI1, LRP8, LAPTM5, BSND, CSDE1, EVI5, DAP3, NPHS2, BTG2, PTP4A2, ARID1A, HIST3H3, CDC7, HIST2H2AA3, HIST2H2AC, HIST2H2BE, HIST2H4A, PIP5K1A, TAGLN2, BCAR3, ANXA9, SNHG3, NR0B2, RAD54L, GNPAT, DYRK3, TTF2, CDC42BPA, RGS5, PPFIA4, PIK3R3, MMP23B, MMP23A, KCNAB2, ITGA10, LMO4, FCN3, BLZF1, CDC14A, DEGS1, KMO, YARS, MKNK1, AKR7A2, PLPP3, RTCA, PTCH2, ALDH4A1, EIF3I, EIF4G3, VAMP4, PEA15, B4GALT3, B4GALT2, B3GALT2, TNFRSF25, ADAM15, PABPC4, TNFRSF14, TNFRSF18, FPGT, PEX11B, CREG1, CD84, PER3, FUBP1, EIF2B3, BCL10, RAB29, SELENBP1, TNFSF18, TAF1A, MPZL1, SH2D2A, ARTN, MAP3K6, ANGPTL1, DIRAS3, TBX19, FCGR2C, SLC16A4, PRPF3, KCNQ4, EXO1, ARHGEF2, DEDD, ZMYM4, ZMYM6, XPR1, FCMR, DHRS3, MAPKAPK2, GPR37L1, GPR52, SRSF11, VAMP3, ZFYVE9, CD101, SELENOF, ZRANB2, SNRNP40, ARHGAP29, AIM2, GGPS1, RASAL2, THEMIS2, ADAMTS4, TMEM59, CHD1L, H6PD, SOX13, PRDX6, CLCA3P, CLCA2, ISG15, IKBKE, PLCH2, HS2ST1, PDE4DIP, IPO13, SDC3, SLC25A44, KIAA0040, KDM4A, CROCC, PUM1, NOS1AP, TMEM63A, CEP104, RIMS3, TOMM20, EFCAB14, URB2, ARHGEF11, DNAJC6, CEP350, CEP170, LRIG2, SETDB1, ZC3H11A, SMG7, PLPPR4, UBAP2L, SV2A, KLHL21, SLC35E2, DENND4B, RABGAP1L, TMCC2, FAM20B, ZBTB40, LPGAT1, MFN2, KIF14, RBM8A, THRAP3, NR1I3, AKT3, INSL5, PIGK, SCAMP3, PTPRU, ARPC5, TSPAN2, TSPAN1, CELA3A, PDZK1IP1, WASF2, PATJ, PRG4, ANGPTL7, GPA33, STX6, HNRNPR, SRRM1, CNKSR1, SF3B4, ZMPSTE24, UBE4B, BCAS2, AKR1A1, WARS2, BPNT1, CEPT1, PIAS3, TESK2, TIMM17A, LRRN2, PPIE, VAV3, HAX1, MAD2L2, PPIH, ZBTB18, C1orf61, CAP1, LRRC41, SEMA6C, LAMTOR5, SLC19A2, IFI44, POLR3C, IVNS1ABP, TXNIP, PDPN, LEFTY1, SPHAR, PMVK, KHDRBS1, GMEB1, FAM189B, AP4B1, NUDC, PHTF1, MASP2, CAPN9, NES, KDM5B, AHCYL1, SRSF10, SDCCAG8, CFHR4, CFHR3, WDR3, OCLM, JTB, MTMR11, MAN1A2, UTS2, SF3A3, MLLT11, IFI44L, EBNA1BP2, SLC27A3, KIF2C, IL24, TDRKH, RER1, DNAJB4, ADAM30, RCAN3, FAF1, CD160, GLMN, HHLA3, CELF3, DDX20, DUSP10, MST1L, PADI2, PMF1, DUSP12, VPS45, LYPLA2, PARK7, CTRC, ACOT7, COG2, CLCA4, MTF2, DNAJC8, NTNG1, PLEKHA6, CLSTN1, FOXJ3, KHDC4, WDR47, KIFAP3, ATF6, SCMH1, AKR7A3, TTC39A, SPEN, KDM1A, RBM34, USP33, WDTC1, KIF21B, NMNAT2, EMC1, KIF1B, NFASC, POGZ, COLGALT2, MAST2, NCDN, CLCC1, SLC35D1, RGL1, PLEKHM2, SYT11, PRRC2C, FBXO28, RPRD2, OTUD3, KAZN, CAMTA1, ADGRL2, CAMSAP2, KIAA1107, ZCCHC11, SZT2, DNAJC16, UBR4, USP24, SRGAP2, SMG5, NCSTN, ATP13A2, CRB1, ITGB3BP, GPR161, TARDBP, CELA3B, SLC35A3, ABCB10, ICMT, MACF1, LRRC8B, ZNF281, SNAPIN, LPAR3, PADI4, DDAH1, TMEM50A, OPN3, PHLDA3, RUSC1, CA14, KPNA6, SSBP3, STX12, DSTYK, RAB3GAP2, CFAP45, LMOD1, MPC2, TRIM58, INTS7, OLFML2B, AHCTF1, C1orf43, CLIC4, NSL1, SYF2, RWDD3, PARS2, MMACHC, ZZZ3, ACOT11, CHD5, DNM3, TOR1AIP1, CHTOP, SZRD1, LDLRAP1, SERBP1, NOC2L, OR1C1, PTPN22, PHGDH, FBXO2, LCE2B, OR2M4, OR2L2, OPTC, FBXO6, PLA2G2D, AK5, MYCBP, OR10J1, HEYL, AGO1, OR2T1, RPS6KC1, RNF11, USP21, FOXD3, DIEXF, TRAPPC3, TAF5L, CACYBP, HSPB7, CHIA, SLC39A1, DISC2, DISC1, ARHGEF16, AHDC1, RNF115, KLHL20, TEKT2, SMPDL3B, ANGPTL3, LAMTOR2, FLVCR1, UBE2T, CNIH4, SSU72, TMOD4, GNL2, GPSM2, UBIAD1, PYCR2, NME7, ALG6, NENF, PADI1, IL19, CERS2, SLC25A24, PLA2G2E, DNTTIP2, WRAP73, CRNN, G0S2, IL20, SLC45A1, DCAF8, HP1BP3, F11R, TMED5, RRP15, GLRX2, BOLA1, DESI2, CELA2B, ZNF593, ZBTB7B, ZNF691, TXNDC12, TNNI3K, RRNAD1, ADIPOR1, SCCPDH, SH3GLB1, MECR, APH1A, UTP11, TRIM17, KCTD3, SDF4, MRTO4, PLEKHO1, HAO2, ACP6, TMEM69, MRPL37, IER5, HOOK1, SNX7, UCHL5, SUCO, HPCAL4, YTHDF2, GPR89B, HSD17B7, UFC1, DTL, ZCCHC17, TRIM33, METTL13, DPH5, HSPB11, OAZ3, PADI3, CYB5R1, CMPK1, ARID4B, CD244, GPR88, ERRFI1, DPM3, WNT4, YIPF1, FBXO42, MRPS21, TRMT13, TMCO1, ADAMTSL4, CRCT1, RNF186, SPATA6, EGLN1, MXRA8, L1TD1, HES2, MAP10, RSBN1, ZNHIT6, GPN2, LEPROT, FBLIM1, MED18, TRIT1, GIPC2, SWT1, GDAP2, FAM46C, GON4L, GPATCH4, PALMD, FNBP1L, ST7L, PQLC2, CASZ1, LAX1, RHBDL2, DUSP23, ADPRHL2, TRNAU1AP, ODR4, C1orf109, C1orf56, INTS11, C1orf123, C1orf159, MARC2, AURKAIP1, TTC22, MRPL20, CRYBG2, SUSD4, KIF26B, TMEM51, RALGPS2, GPATCH2, BSDC1, XKR8, TMEM39B, PRPF38B, HEATR1, CDCA8, LRRC8D, MSTO1, DARS2, ARHGEF10L, PRMT6, RNF220, VPS13D, EVA1B, GOLPH3L, ATAD3A, TMEM57, KLHDC8A, TRIM62, ETNK2, RAVER2, PANK4, KIRREL1, TMEM206, YY1AP1, ECHDC2, FGGY, MCOLN3, SLC22A15, YOD1, CAMK2N1, BATF3, SLC30A10, UBE2Q1, RNPC3, ITLN1, ASAP3, POMGNT1, PNRC2, LRRC40, DEPDC1, PIGV, ZNF692, NBPF1, IARS2, MAP7D1, IPO9, NDC1, NECAP2, IQCC, C1orf112, HHAT, DNAJC11, ENAH, NUP133, RCOR3, C1orf106, LRIF1, MINDY1, ADCY10, DCAF6, ASH1L, LENEP, CTTNBP2NL, RCC2, FAM212B, DMAP1, AJAP1, GNG12, SLC50A1, TMEM234, MTFR1L, SERTAD4, KYAT3, ERO1B, FMN2, SLAMF8, CDC42SE1, UBQLN4, TMEM167B, OLFML3, SMYD2, LHX9, OTUD7B, COQ8A, CTNNBIP1, RSRP1, AGTRAP, PITHD1, RAB25, PGLYRP4, ZNF695, RHBG, MAN1C1, SCYL3, GJC2, CAMK1G, NIPAL3, SELENON, ATP8B2, VANGL2, PBXIP1, S100A14, PLEKHG5, GATAD2B, AMIGO1, LRRC47, ODF2L, CGN, KIAA1324, DISP3, IGSF9, LRRC7, SIPA1L2, KIF17, ZNF687, ZSWIM5, POGK, KIAA1522, HCN3, CACHD1, MIER1, KIAA1614, BRINP2, HES4, CCDC181, GRHL3, SLAMF7, ZP4, CADM3, PTBP2, RHOU, PRUNE1, DNASE2B, DLGAP3, IL22RA1, HIVEP3, KLHL12, LGR6, GPBP1L1, HAPLN2, MIIP, GAS5, PAPPA2, CELA2A, BCAN, GPATCH3, TNN, MRPS14, DMRTB1, DMRTA2, CLSPN, PRDM16, OXCT2, RRAGC, ADGRL4, TINAGL1, P3H1, TFB2M, SEMA4A, TOR3A, RFWD2, GREM2, RGS18, PLA2G2F, MFSD14A, NUCKS1, SMAP2, ACBD3, SMYD3, ATPAF1, MARC1, S100PBP, MEAF6, RBM15, EXO5, CEP85, ARV1, NMNAT1, ELOVL1, AIDA, VWA1, DCLRE1B, MRPS15, MRPL9, PINK1, JMJD4, MARCKSL1, PRAMEF1, PRAMEF2, INTS3, NADK, ZFP69B, COA7, PHACTR4, AUNIP, SCNM1, ERI3, C1orf50, WDR77, C1orf116, CCDC28B, C1orf35, EFHD2, MMEL1, RSG1, FCRL2, NKAIN1, TTC13, EPS8L3, CDC73, MRPL24, MUL1, PGBD5, TNFAIP8L2, C1orf54, TMEM53, AKIRIN1, HECTD3, BEND5, VTCN1, YRDC, ZYG11B, NOL9, PPCS, LIN28A, SH3D21, TTLL7, SNIP1, C1orf115, HHIPL2, VASH2, AGMAT, WDR78, ZMYM1, ZNF669, RPAP2, ZNF672, MORN1, FAM110D, KIAA0319L, DHDDS, PAQR6, DENND2D, WLS, PCNX2, GPR157, TRIM46, MROH9, RPF1, SIKE1, ZC3H12A, SPSB1, TARS2, WDR26, TRIM45, EDEM3, FLAD1, TRAF3IP3, CPTP, ZNF436, TAS1R2, TAS1R1, SH3BP5L, NPL, GJA9, OR6N2, OR6K2, OR2L5, OR2G3, OR2G2, OR2C3, SYNC, CFHR5, TRIM11, C1orf21, ACTL8, ANKRD13C, NECTIN4, SNX27, ANP32E, SHCBP1L, TRMT1L, TSSK3, CCNL2, NUAK2, VANGL1, ST6GALNAC5, ISG20L2, HYI, FCRL5, FCRL4, SH3BGRL3, DDX59, NUF2, RASSF5, SESN2, ESPN, TAS1R3, ATAD3B, HMCN1, GPR61, MIXL1, STK40, SPRTN, TM2D1, FCAMR, REG4, OBSCN, TMEM222, TEX35, PLEKHN1, HORMAD1, TOMM40L, SYDE2, ZNF644, USP48, ZMYND12, NBPF3, LRRC8C, ZDHHC18, SGIP1, POLR3GL, SLC25A33, TMEM79, NTPCR, EFCAB2, DDI2, ACBD6, LZIC, PROK1, MAP3K21, EFCAB7, ZBTB37, NT5C1A, LCE3D, TRIM63, PSRC1, FAM167B, FCRLA, ZNF496, HPDL, AGBL4, MFSD2A, C1orf198, PPP1R15B, ATG4C, MAEL, PRPF38A, SYTL1, IGSF21, LSM10, C1orf94, DISP1, STRIP1, RGS8, SLC45A3, DOCK7, CFAP74, WNT3A, NAV1, SEC16B, AQP10, LHX4, SLAMF9, KIAA2013, THAP3, STPG1, PYGO2, ANGEL2, SPOCD1, ZNF697, IGFN1, NUP210L, BTF3L4, UBXN11, NEXN, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, TMEM183A, HIST3H2A, PIGM, IGSF8, C1orf158, LEMD1, ZNF670, FBXO44, ATPIF1, GLMP, MED8, KTI12, SMIM12, AZIN2, TMEM54, HENMT1, TOE1, NLRP3, ERMAP, PGLYRP3, CSMD2, MYSM1, GNRHR2, FHAD1, SLAMF6, OSBPL9, SLC26A9, OMA1, RAB42, FCRL1, FCRL3, LRRC42, GBP4, GBP5, FAM46B, COX20, RBP7, TSEN15, FAM129A, SNAP47, ACAP3, TADA1, THEM4, SH2D1B, SSX2IP, UBE2J2, OLFM3, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KDF1, CCSAP, LRRC38, AADACL3, PUSL1, B3GALT6, WDR63, KLHDC9, AXDND1, MAB21L3, IFFO2, HIST2H3C, SLC44A3, ATXN7L2, C1orf194, LYPLAL1, OR2M5, OR2M3, OR2T12, OR14C36, OR2T34, OR2T10, OR2T4, OR2T11, ATP6V1G3, ASB17, TYW3, ERICH3, LRRIQ3, TPRG1L, FAM213B, MYOM3, DMBX1, OR10J5, TMCO2, ZNF684, TCEANC2, PODN, LRRC39, GJB4, HMGB4, RNF19B, A3GALT2, DCST2, DNAH14, OR2B11, ZNF648, TEDDM1, C1orf122, OSCP1, C1orf216, KLHDC7A, VWA5B1, UBXN10, C1orf87, ARL8A, SYT2, GOLT1A, UHMK1, FCRLB, WDR64, C1orf131, LIX1L, SPATA17, EDARADD, KLF17, TMEM125, TSACC, IQGAP3, NAXE, ARHGEF19, MRPL55, HIST3H2BB, DRAM2, PIFO, C1orf162, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, TATDN3, S100A16, NEK7, ACTRT2, MIB2, ITLN2, SYT6, C1orf74, CREB3L4, C1orf127, BROX, SAMD11, SAMD13, C1orf52, PHF13, CIART, TMEM56, NBPF4, UBE2U, SLC35F3, HFE2, ANKRD35, FAM163A, B3GALNT2, MFSD4A, PM20D1, GCSAML, SLC30A7, CCDC27, KNCN, MOB3C, GLIS1, NBPF12, LELP1, RC3H1, DCDC2B, ZNF362, DCST1, CNIH3, MANEAL, IL23R, METTL11B, FAM78B, SHISA4, EXOC8, PDIK1L, BNIPL, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CCDC17, LRRC71, SRARP, RNF187, PYHIN1, SPATA45, FAM71A, SLC2A7, DENND2C, GBP6, FNDC7, DENND1B, TDRD5, TOR1AIP2, CALML6, IFNLR1, CITED4, LEXM, SPRR4, KANK4, SASS6, SDE2, CNST, FAM43B, HFM1, PAQR7, TTC24, CCDC185, UBL4B, AGO3, AGO4, LCE4A, ALG14, FAM76A, FYB2, TMEM201, TMEM61, CYP4Z1, FAAP20, CDCP2, SLC5A9, CC2D1B, NBPF11, NUDT17, TXLNA, TCTEX1D1, PLD5, C1orf100, SPAG17, SLFNL1, KRTCAP2, CRTC2, IBA57, HIPK1, SLC44A5, ATAD3C, AKR7L, TMEM9, FNDC5, EPHX4, TTLL10, AKNAD1, SLC41A1, OR2T6, LCE5A, TMCO4, MCOLN2, COL24A1, PCSK9, SYT14, ST6GALNAC3, CATSPERE, ZNF683, ARHGAP30, CFAP126, NEGR1, ASPM, MDS2, CYP4X1, MAGI3, TIPRL, NPHP4, BEST4, PGBD2, FAM19A3, RIIAD1, THEM5, C1orf167, OR2L13, SLC9C2, OR14A16, CYP4A22, C1orf185, NBPF15, FAM102B, SYPL2, CYB561D1, ANKRD34A, RUSC1-AS1, RSPO1, EPHA10, SNHG28, SPATA46, ZNF326, BTBD8, RIMKLA, SLC25A34, LIN9, VN1R5, HIST2H2AB, PPM1J, HIST2H3A, FAM151A, S100A7A, LINGO4, RXFP4, ANKRD45, C1orf174, KLHL17, TMEM240, TMEM52, BRINP3, ZBTB8OS, TFAP2E, ZNF678, PRSS38, CCDC190, C1orf228, ZFP69, RD3, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, CCDC18, OR6F1, OR2W3, OR2T8, OR2T3, MYBPHL, OR10R2, FCRL6, KCNT2, BARHL2, NBPF7, TCTEX1D4, OR2T29, SERINC2, SHISAL2A, FAM131C, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PADI6, RGSL1, BMP8A, IRF2BP2, ZBTB41, DRAXIN, SPATA21, SVBP, TEX38, MROH7, MIGA1, PEAR1, SFT2D2, MIA3, STUM, FAM89A, AGRN, CENPS, CATSPER4, NSUN4, GPR153, ILDR2, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, TRNP1, CD164L2, TRABD2B, LDLRAD1, GBP7, C1orf146, FAM69A, SLC6A17, NOTCH2NL, LYSMD1, HRNR, FLG2, C1orf189, C1orf53, TMEM81, CAPN8, COA6, C1orf229, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, UOX, FRRS1, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, VSIG8, OR11L1, OR2L8, OR2AK2, OR2L3, OR2M2, OR2T33, OR2M7, OR2G6, TMEM200B, PRAMEF4, PRAMEF13, SH2D5, NCMAP, C1orf141, C1orf226, NBPF9, FAM177B, RNF223, LDLRAD2, OR2T2, OR2T5, OR14I1, OR2T27, OR2T35, APOBEC4, MIR101-1, MIR137, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR181A1, MIR214, MIR215, MIR29C, MIR30C1, MIR34A, MIR9-1, RGS21, LHX8, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, FAM183A, ZYG11A, BCL2L15, HIST2H2BF, ETV3L, LRRC52, RHEX, TRIM67, MAP1LC3C, ANKRD65, PRAMEF7, OR10J3, OR2W5, OR13G1, KPRP, LCE6A, RBMXL1, LURAP1, PEF1, MIR429, FAM72C, HIST2H4B, PRR9, C1orf147, CYB5RL, MIR205HG, FLVCR1-AS1, CYMP, KIAA0754, TMEM88B, FNDC10, PPIAL4G, PPIAL4D, PRAMEF19, PRAMEF20, MT1HL1, S100A7L2, LACTBL1, LYPD8, SRGAP2B, ASCL5, ZBTB8A, NBPF6, SRGAP2C, PPIAL4A, GPR89A, PPIAL4C, HIST2H3D, PRAMEF22, PRAMEF15, FAM72B, PRAMEF16, PCP4L1, MIR551A, HIST2H2AA4, ZBTB8B, CCDC30, CDK11A, SLC35E2B, FAM72D, NBPF8, PPIAL4F, TEX46, FAM72A, PPIAL4E, PFN1P2, FAM229A, C1orf132, BTNL10, C1orf68, TSTD1, FOXO6, LINC01783, NBPF10, FCGR1CP, TRN-GTT11-1, TRN-GTT9-1, TRH-GTG2-1, TRQ-CTG3-1, TRN-GTT10-1, TRQ-CTG14-1, C2CD4D, LOC100287049, TTC34, HYDIN2, ZBED6, MIR3120, SPATA1, KIRREL1-IT1, ENO1-AS1, TMEM35B, PCAT6, NBPF5P, CENPS-CORT, FPGT-TNNI3K, PMF1-BGLAP, MINOS1-NBL1, DNM3OS, NEGR1-IT1, ZRANB2-AS2, LINC00538, FALEC, LINC00853, LOC100996263, LOC101927434, LOC101927851, LOC101928034, LINC01649, LOC101929516
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
60.
GRCh37:
Chr1:83923008-104816539
GRCh38:
Chr1:83457325-104273917
See casesPathogenic
(Feb 18, 2011)
no assertion criteria provided
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