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Genes:
A1CF, AAMDC, ABCC6, ABCF1, AC005609.1, AC008132.1, AC009892.10, AC010536.1, AC012123.1, AC018755.1, AC062017.1, AC074212.3, AC090616.2, AC091801.1, AC096644.1, AC104667.3, AC110771.1, ACIN1, ACOT4, ACSL6, ACSM5, ACTR10, ACTRT2, ACVR1, ADAM21, ADAMTS1, ADAMTS8, ADM2, ADRA2B, AFAP1L2, AFF3, AGAP4, AGAP6, AGAP8, AHDC1, AK5, AK9, AKAP12, AKAP9, AKR1CL1, AL133373.1, AL391152.1, AL603965.1, ALDH3B1, ALG1, ALG9, ALMS1, ALPK2, AMBRA1, AMDHD2, ANKLE1, ANKRD24, ANKRD30BL, ANKRD31, ANKRD36, ANKRD36C, ANO8, AOAH, AOC1, AP001468.1, AP1S3, APOL4, AQP12A, AQP12B, AR, ARFRP1, ARHGEF26, ARID3A, ARID4B, ARMC9, ARMCX4, ARRDC4, ARSD, ART5, ASCC2, ASCC3, ASPG, ASPN, ATAD5, ATF7IP2, ATG9B, ATP10B, ATP13A5, ATP6AP1, ATXN2, ATXN7, AXDND1, B3GNT6, BARD1, BCAM, BCKDHA, BCL2L14, BCL6B, BCL9, BHLHE22, BID, BIRC8, BOC, BRAT1, C10orf71, C11orf80, C12orf10, C12orf40, C12orf56, C16orf62, C16orf96, C17orf100, C17orf103, C17orf80, C18orf25, C19orf45, C19orf55, C1orf222, C21orf49, C21orf58, C2orf49, C4orf17, C5orf60, C6orf164, C8A, C8orf59, CACNA1A, CACNA1H, CACNA1S, CADM4, CALHM1, CAMK1D, CAPNS1, CASZ1, CATSPER4, CBWD3, CBX4, CCDC129, CCDC177, CCDC180, CCDC27, CCDC40, CCDC57, CCDC66, CCDC67, CD177, CD200R1, CD200R1L, CD207, CD34, CD3EAP, CD3G, CD52, CDC27, CDC42EP1, CDCP2, CDH22, CDH5, CDK11A, CDKN1C, CDKN2AIP, CDRT1, CDRT4, CDSN, CELA1, CELA3B, CELSR1, CELSR2, CEP170, CEP68, CEP85, CES1, CHIA, CHL1, CHRNA3, CHST15, CLCA4, CLCNKB, CLDN7, CLEC1A, CLECL1, CLIC6, CLTCL1, CNDP1, CNPY4, CNR2, CNTN4, CNTNAP3, CNTNAP4, COBL, COG3, COL18A1, COL26A1, COL28A1, COL4A2, COL6A2, COL6A5, COPZ2, COX5A, CPN2, CPS1, CREB3L1, CREB3L2, CRELD2, CRIPAK, CRLF1, CTBP2, CTBS, CTC-241N9.1, CTD-2368P22.1, CTD-3193O13.9, CTDSP2, CTNNA2, CTSA, CTSH, CTU2, CUL7, CUX1, CWC15, CYB5R2, CYFIP2, CYP2A7, CYP2B6, CYP2F1, CYP3A5, CYP4F11, CYP4Z1, DACH1, DACT2, DCAF7, DCHS2, DCK, DCLK2, DCP1A, DCP1B, DCXR, DDHD1, DDX6, DEFB126, DIXDC1, DLC1, DLX2, DMKN, DNAH14, DNAH17, DNAH7, DNHD1, DOK3, DPY19L2, DSG1, DUSP5, DUX4L4, DXO, ECHDC3, EFCAB13, EFS, EI24, EIF2AK3, EIF3G, EME1, EME2, EMG1, ENGASE, EOMES, EP400, ERGIC2, ERI1, ERMARD, ESX1, ETV2, ETV7, EVC, EXD1, EXOC3L4, EXOC6B, F12, FAM109A, FAM171B, FAM174B, FAM186A, FAM189A1, FAM189A2, FAM198A, FAM208B, FAM214A, FAM228A, FAM228B, FAM230A, FAM27E1, FAM46A, FAM57A, FAM58A, FAM71E2, FAM83D, FAM83G, FAM86B2, FAM90A1, FANCD2, FANCM, FBP1, FCAMR, FCGBP, FERMT1, FGF10, FLG, FLG2, FMN2, FMNL1, FMNL2, FMO2, FNBP4, FNDC1, FOXC1, FOXD2, FOXD3, FOXQ1, FRG1B, FRG2B, FRG2C, FRRS1L, FSIP2, FYCO1, FZD1, GABRG3, GAGE12J, GALNT9, GAS2L1, GBP4, GCAT, GDF7, GDPD4, GFM2, GGT1, GLTSCR1, GNAL, GOLGA6L10, GOLGA6L18, GOLGA6L2, GOLGA6L6, GOLGA8I, GOLGA8R, GOLGA8S, GOLGB1, GPATCH4, GPR123, GPR50, GPR55, GPR98, GPRIN1, GPRIN2, GPX1, GREB1L, GRIA3, GRIN2C, GRIN3A, GSE1, GSPT1, GSTM4, GTPBP10, GUCA2B, GYPA, GYPB, HADHB, HAS1, HAVCR1, HBEGF, HCLS1, HDGFRP2, HELB, HIBADH, HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DPB1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5, HNF1A, HNRNPCL1, HOMEZ, HOXD8, HRC, HRNR, HS3ST6, HSH2D, HSPB11, HSPBP1, HTR3E, HUWE1, HYAL1, HYDIN, ICA1, ICA1L, IFNA10, IFNA16, IFNA17, IGFBP2, IGFN1, IGHA2, IGHG1, IGHJ6, IGHV3-11, IGHV3-48, IGHV3-64, IGHV4-31, IGHV4-39, IGHV5-51, IGJ, IGKV1-12, IGKV1D-17, IGLJ2, IGLV3-16, IGLV3-22, IGLV5-48, IGSF3, IL1RL1, IL32, ILK, INMT, INVS, IP6K3, IPO4, IQSEC1, IRAK1BP1, IRF2BPL, IRF5, ISCU, IST1, ITGB1BP1, ITIH1, ITIH5, IVL, IZUMO1, KANK3, KANK4, KBTBD7, KCNG2, KCNJ12, KCNN3, KCNU1, KIAA0040, KIAA0430, KIAA1211, KIAA2018, KIF1A, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KL, KLHL38, KLRC3, KLRF1, KMT2B, KMT2C, KRBA1, KRT24, KRT37, KRT76, KRT83, KRTAP10-1, KRTAP10-10, KRTAP10-2, KRTAP10-3, KRTAP10-6, KRTAP10-7, KRTAP12-2, KRTAP17-1, KRTAP29-1, KRTAP4-3, KRTAP4-8, KRTAP5-1, KRTAP5-2, KRTAP5-5, KRTAP9-1, LAMA4, LAMA5, LANCL2, LAPTM4B, LCA10, LCE4A, LDLRAP1, LEKR1, LENG9, LEPR, LEPREL2, LILRA1, LILRA2, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LINC00955, LINC01100, LIPA, LOR, LRIG1, LRRC17, LRRC49, LRRC56, LRRIQ1, LSR, LTBP4, LTF, LURAP1L, LYNX1, LZTR1, MAFA, MAGEC1, MAGEF1, MAL2, MAML2, MAML3, MAN2A1, MAP1A, MAP3K1, MAPK15, MAPK8IP2, MCC, MDC1, MED16, MEOX2, MESP1, METRN, METTL17, MEX3C, MICA, MICAL1, MKI67, MLKL, MMAB, MMP17, MMP28, MNDA, MPP2, MPRIP, MPV17, MRC1, MROH6, MROH8, MRPL18, MRPL2, MRPS26, MRPS34, MS4A14, MSH3, MSLNL, MT4, MTCH1, MTERFD2, MTOR, MUC12, MUC13, MUC16, MUC19, MUC20, MUC3A, MUC4, MUC5B, MUC6, MXRA5, MYBPH, MYCT1, MYH7B, MYH9, MYL7, MYO15B, MYO3A, MYO7A, NADK, NADSYN1, NAGLU, NAV1, NBPF1, NBPF10, NBPF11, NBPF12, NBPF16, NCAM1, NCOA3, NCOR1, NCOR2, NEFH, NFATC1, NIFK, NIT2, NKX6-1, NLRC3, NLRC5, NLRP1, NLRP2, NME4, NOMO2, NOP16, NOP9, NOTCH4, NOX4, NPDC1, NPIPA5, NPIPB11, NPIPB4, NPRL3, NR1H2, NRD1, NRG2, NRP1, NUCB2, NUDT11, NUDT18, NUMBL, NUP205, NUSAP1, NUTM2F, NXPE1, OAS1, OBP2A, OLFM1, OPLAH, OPN1LW, OR10AD1, OR10C1, OR10G7, OR10G9, OR10J4, OR10V1, OR11G2, OR13C5, OR14A16, OR1B1, OR2A1, OR2B11, OR2D2, OR2L8, OR2T35, OR2T4, OR2T7, OR2T8, OR4C3, OR4C5, OR4L1, OR4Q2, OR4X1, OR51B6, OR51F1, OR51H1P, OR51M1, OR52B4, OR52I2, OR52J3, OR52N1, OR5H15, OR5P2, OR6C1, OR6Q1, OR7C2, OR7G3, OR8D4, OR8U1, OR9G1, OR9K2, ORAI1, OSGIN1, OXA1L, P2RX5, PABPC1, PAMR1, PAPPA-AS1, PAX6, PCDH12, PCDH15, PCDH8, PCDHA9, PCDHB10, PCDHB2, PCDHB4, PCDHB7, PCDHGA12, PCLO, PCM1, PCSK5, PCSK6, PDE11A, PDE4DIP, PDHA1, PER3, PEX6, PGC, PGLYRP2, PGPEP1L, PHF2, PHLDA1, PHLDB1, PHLDB3, PIDD, PIGQ, PIGZ, PIH1D1, PIK3C2G, PIK3R6, PILRB, PITX1, PKD1L1, PKD1L2, PKDREJ, PLA2G4E, PLCD3, PLCZ1, PLEKHA2, PLEKHG5, PLIN4, PLK5, PLOD2, PLXDC2, PMM1, PNLIPRP2, PNLIPRP3, PNPT1, PODXL, POLDIP2, POLI, POMZP3, POT1, POTEH, POU3F4, POU4F2, POU5F1B, PPFIA4, PPP1R9B, PPTC7, PRAMEF10, PRAMEF13, PRAMEF22, PRAMEF5, PRAMEF6, PRB3, PRB4, PRDM12, PRDM13, PRDM15, PRDM2, PREX2, PRICKLE4, PRIM2, PRIMA1, PRKAR1A, PRKDC, PRRC2A, PRSS3, PRSS48, PRUNE2, PSD3, PSG11, PSG4, PSG8, PSG9, PSMD13, PSMG4, PTCHD3, PTGFRN, PTPN4, PTPRJ, PTPRZ1, RAB11FIP1, RAB40C, RAD17, RAD23B, RADIL, RAET1E, RARS, RASA2, RBMX, RBMXL3, RBP7, RDH8, REC8, RECQL4, REP15, REXO1, RFPL1, RFPL2, RGPD4, RIBC2, RILPL1, RIN3, RMDN2, RNASE12, RNF113B, RNF223, ROS1, RP11-1055B8.7, RP11-1407O15.2, RP11-156E8.1, RP11-166B2.1, RP11-17M16.1, RP11-347C12.1, RP11-366L20.2, RP11-383H13.1, RP11-477N12.3, RP11-683L23.1, RPL14, RPP21, RPTN, RTDR1, RTTN, RYK, RYR3, SALL1, SALL3, SAMD1, SARM1, SBK3, SCAMP1, SCARF2, SCEL, SCGB1C1, SCN3A, SCRN3, SDIM1, SDR39U1, SEC16B, SENP3, SEPT7, SERINC2, SFRP1, SFTPA1, SGK223, SIGLEC12, SIGLEC9, SIK1, SIM2, SIRPA, SIRPB1, SKIDA1, SLAIN1, SLC12A2, SLC16A7, SLC22A1, SLC28A1, SLC29A3, SLC35G6, SLC37A4, SLC3A1, SLC41A3, SLC46A1, SLC4A3, SLC6A18, SLC6A8, SLC9C1, SMAD5, SMG1, SMPD1, SMPDL3B, SNAPC4, SNCAIP, SNRPC, SOGA1, SOGA2, SOHLH1, SON, SOX13, SP100, SPAG8, SPANXD, SPATA3, SPATA31A4, SPATA31A7, SPATA4, SPATA7, SPEN, SPI1, SPIB, SPIN2A, SPIRE2, SRP14, SRRD, SRRM3, SRSF8, SSBP4, SSC5D, STAG2, STAG3, STAU1, STAU2, STK32C, STK39, STUB1, SULT1A2, SULT1C3, SUSD2, SYN3, SYNE1, SYNGR1, SYNJ1, SYNM, SYTL2, TAF1D, TAF3, TAF4, TAS2R19, TAS2R42, TAS2R43, TBCD, TBP, TBX1, TCEAL6, TCF15, TCF19, TCF3, TCOF1, TDP1, TDRD6, TDRP, TEKT4, TENM1, TEX13A, THEMIS2, THSD7A, TIAM1, TIGD5, TIGD6, TMCO4, TMEM14C, TMEM198, TMEM37, TMEM52, TMEM63A, TMEM80, TMEM99, TMIE, TMPRSS13, TMPRSS5, TNRC18, TOP1MT, TP53I11, TP53INP1, TP53TG5, TPD52, TPRX1, TPSB2, TPSD1, TRAJ36, TRAJ37, TRAK1, TRAV26-1, TRAV8-4, TRAV8-6, TRBC2, TRBV3-1, TRBV4-2, TRBV5-4, TRBV5-6, TRBV6-7, TRBV7-3, TREH, TRGC2, TRIM29, TRMT13, TRMT6, TSPAN10, TSPYL1, TTLL11, TTLL2, TUBA3E, TUBB1, TULP4, TWF1, TXLNB, TXLNG, UBN2, UBR4, UGT1A7, UGT2B7, UNC13A, UNC93B1, URI1, USF2, USP17L26, USP20, USP6, VAPA, VCX2, VEGFC, VIL1, VNN3, VPREB1, VPS11, VPS13A, VRK1, VSIG10L, VTN, WDR33, WDR41, WDR49, WDR66, WDR75, WNK1, YEATS2, YME1L1, ZBED3, ZBTB11, ZBTB21, ZBTB33, ZC3H3, ZCCHC11, ZCCHC3, ZCCHC6, ZFPM1, ZFYVE19, ZKSCAN3, ZNF141, ZNF148, ZNF2, ZNF211, ZNF274, ZNF275, ZNF280A, ZNF284, ZNF384, ZNF408, ZNF416, ZNF440, ZNF443, ZNF480, ZNF500, ZNF516, ZNF525, ZNF559, ZNF579, ZNF584, ZNF585A, ZNF586, ZNF598, ZNF607, ZNF626, ZNF66, ZNF676, ZNF683, ZNF714, ZNF717, ZNF726, ZNF765, ZNF772, ZNF787, ZNF804A, ZNF814, ZNF816, ZNF852, ZNF880, ZNF891, ZNF99, ZSWIM6, ZSWIM8, ZWILCH,

+ Genes associated with diseases 195

Genes at Omim

ABCC6, ACSL6, ACVR1, ADRA2B, AHDC1, AKAP9, ALG1, ALG9, ALMS1, AP1S3, APOL4, AR, ARMC9, ASPN, ATP6AP1, ATXN2, ATXN7, BARD1, BCKDHA, BRAT1, C8A, CACNA1A, CACNA1H, CACNA1S, CCDC40, CD207, CD3G, CDKN1C, CDSN, CES1, CHRNA3, CLCNKB, CLEC1A, COL18A1, COL4A2, COL6A2, CPS1, CREB3L1, CRLF1, CTNNA2, CTSA, CTU2, CUL7, CUX1, CYFIP2, CYP2B6, CYP3A5, DCXR, DDHD1, DLC1, DPY19L2, DSG1, EIF2AK3, EMG1, ERMARD, EVC, F12, FAM58A, FANCD2, FANCM, FBP1, FERMT1, FGF10, FLG, FLG2, FMN2, FOXC1, FOXD3, FRRS1L, FSIP2, FYCO1, GGT1, GNAL, GPX1, GREB1L, GRIA3, GYPA, GYPB, HADHB, HBEGF, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQB1, HLA-DRB1, HNF1A, HUWE1, HYAL1, HYDIN, IGSF3, INVS, IRF2BPL, IRF5, ISCU, KIF1A, KIR3DL1, KL, KMT2B, KMT2C, KRT83, LAMA4, LDLRAP1, LEPR, LIPA, LOR, LRRC56, LTBP4, LZTR1, MAFA, MAML2, MAP3K1, MCC, MMAB, MPV17, MRPS34, MSH3, MTOR, MUC5B, MYH9, MYO3A, MYO7A, NAGLU, NEFH, NLRP1, NPRL3, NUP205, OPLAH, OPN1LW, ORAI1, PAX6, PCDH12, PCDH15, PCLO, PDE11A, PDHA1, PER3, PEX6, PITX1, PKD1L1, PLCZ1, PLEKHG5, PLOD2, PNPT1, POT1, POU3F4, PRDM12, PRKAR1A, PRKDC, PTPRJ, RARS, RBMX, RECQL4, RTTN, SALL1, SCARF2, SCN3A, SIK1, SLC29A3, SLC37A4, SLC3A1, SLC46A1, SLC6A8, SMPD1, SOHLH1, SON, SPATA7, STAG2, STAG3, STUB1, SYNE1, SYNJ1, TBCD, TBP, TBX1, TCF3, TCOF1, TDP1, TMIE, TRAK1, TREH, TSPYL1, TUBB1, UNC93B1, VEGFC, VPS11, VPS13A, VRK1, WDR66, WNK1, YME1L1, ZNF141, ZNF148, ZNF408, ZSWIM6,

ABCC6	Arterial calcification, generalized, of infancy, 2, 614473 (3) Pseudoxanthoma elasticum, 264800 (3) Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ACSL6	Myelodysplastic syndrome (3) Myelogenous leukemia, acute (3)
ACVR1	Fibrodysplasia ossificans progressiva, 135100 (3)
ADRA2B	Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AHDC1	Xia-Gibbs syndrome, 615829 (3)
AKAP9	?Long QT syndrome-11, 611820 (3)
ALG1	Congenital disorder of glycosylation, type Ik, 608540 (3)
ALG9	Gillessen-Kaesbach-Nishimura syndrome, 263210 (3) Congenital disorder of glycosylation, type Il, 608776 (3)
ALMS1	Alstrom syndrome, 203800 (3)
AP1S3	{Psoriasis 15, pustular, susceptibility to}, 616106 (3)
APOL4	{Schizophrenia}, 181500 (1)
AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) Hypospadias 1, X-linked, 300633 (3) {Prostate cancer, susceptibility to}, 176807 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ARMC9	Joubert syndrome 30, 617622 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
ATP6AP1	Immunodeficiency 47, 300972 (3)
ATXN2	{Parkinson disease, late-onset, susceptibility to}, 168600 (3) Spinocerebellar ataxia 2, 183090 (3) {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
ATXN7	Spinocerebellar ataxia 7, 164500 (3)
BARD1	{Breast cancer, susceptibility to}, 114480 (3)
BCKDHA	Maple syrup urine disease, type Ia, 248600 (3)
BRAT1	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3) Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
C8A	C8 deficiency, type I, 613790 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CACNA1H	Hyperaldosteronism, familial, type IV, 617027 (3) {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CACNA1S	{Malignant hyperthermia susceptibility 5}, 601887 (3) Hypokalemic periodic paralysis, type 1, 170400 (3) {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CCDC40	Ciliary dyskinesia, primary, 15, 613808 (3)
CD207	[?Birbeck granule deficiency], 613393 (3)
CD3G	Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
CDKN1C	Beckwith-Wiedemann syndrome, 130650 (3) IMAGE syndrome, 614732 (3)
CDSN	Hypotrichosis 2, 146520 (3) Peeling skin syndrome 1, 270300 (3)
CES1	Drug metabolism, altered, CES1-related, 618057 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
CLCNKB	Bartter syndrome, type 3, 607364 (3) Bartter syndrome, type 4b, digenic, 613090 (3)
CLEC1A	{Aspergillosis, susceptibility to}, 614079 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
COL4A2	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3)
COL6A2	Bethlem myopathy 1, 158810 (3) ?Myosclerosis, congenital, 255600 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
CPS1	Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3)
CREB3L1	Osteogenesis imperfecta, type XVI, 616229 (3)
CRLF1	Cold-induced sweating syndrome 1, 272430 (3)
CTNNA2	Cortical dysplasia, complex, with other brain malformations 9, 618174 (3)
CTSA	Galactosialidosis, 256540 (3)
CTU2	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CUL7	3-M syndrome 1, 273750 (3)
CUX1	Global developmental delay with or without impaired intellectual development, 618330 (3)
CYFIP2	Epileptic encephalopathy, early infantile, 65, 618008 (3)
CYP2B6	Efavirenz, poor metabolism of, 614546 (3) {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP3A5	{Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3)
DCXR	[Pentosuria], 260800 (3)
DDHD1	Spastic paraplegia 28, autosomal recessive, 609340 (3)
DLC1	Colorectal cancer, somatic, 114500 (3)
DPY19L2	Spermatogenic failure 9, 613958 (3)
DSG1	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) Keratosis palmoplantaris striata I, AD, 148700 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
EMG1	Bowen-Conradi syndrome, 211180 (3)
ERMARD	?Periventricular nodular heterotopia 6, 615544 (3)
EVC	Ellis-van Creveld syndrome, 225500 (3) ?Weyers acrofacial dysostosis, 193530 (3)
F12	Factor XII deficiency, 234000 (3) Angioedema, hereditary, type III, 610618 (3)
FAM58A	STAR syndrome, 300707 (3)
FANCD2	Fanconi anemia, complementation group D2, 227646 (3)
FANCM	?Premature ovarian failure 15, 618096 (3) Spermatogenic failure 28, 618086 (3)
FBP1	Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FERMT1	Kindler syndrome, 173650 (3)
FGF10	Aplasia of lacrimal and salivary glands, 180920 (3) LADD syndrome, 149730 (3)
FLG	Ichthyosis vulgaris, 146700 (3) {Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
FLG2	Peeling skin syndrome 6, 618084 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3)
FOXD3	{Autoimmune disease, susceptibility to, 1}, 607836 (3)
FRRS1L	Epileptic encephalopathy, early infantile, 37, 616981 (3)
FSIP2	Spermatogenic failure 34, 618153 (3)
FYCO1	Cataract 18, autosomal recessive, 610019 (3)
GGT1	?Glutathioninuria, 231950 (3)
GNAL	Dystonia 25, 615073 (3)
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
GREB1L	Renal hypodysplasia/aplasia 3, 617805 (3)
GRIA3	Mental retardation, X-linked 94, 300699 (3)
GYPA	{Malaria, resistance to}, 611162 (3) [Blood group, MNSs system], 111300 (3)
GYPB	{Malaria, resistance to}, 611162 (3) [Blood group, Ss], 111740 (3)
HADHB	Trifunctional protein deficiency, 609015 (3)
HBEGF	{Diphtheria, susceptibility to} (1)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3) {Drug-induced liver injury due to flucloxacillin} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DQB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HNF1A	Hepatic adenoma, somatic, 142330 (3) Diabetes mellitus, insulin-dependent, 20, 612520 (3) MODY, type III, 600496 (3) Renal cell carcinoma, 144700 (3) {Diabetes mellitus, insulin-dependent}, 222100 (3) {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HUWE1	Mental retardation, X-linked syndromic, Turner type, 300706 (3)
HYAL1	?Mucopolysaccharidosis type IX, 601492 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
INVS	Nephronophthisis 2, infantile, 602088 (3)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
IRF5	{Inflammatory bowel disease 14}, 612245 (3) {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
ISCU	Myopathy with lactic acidosis, hereditary, 255125 (3)
KIF1A	Mental retardation, autosomal dominant 9, 614255 (3) Neuropathy, hereditary sensory, type IIC, 614213 (3) Spastic paraplegia 30, autosomal recessive, 610357 (3)
KIR3DL1	{AIDS, delayed/rapid progression to}, 609423 (3)
KL	?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
KMT2B	Dystonia 28, childhood-onset, 617284 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
KRT83	Erythrokeratodermia variabilis et progressiva 5, 617756 (3) Monilethrix, 158000 (3)
LAMA4	Cardiomyopathy, dilated, 1JJ, 615235 (3)
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
LEPR	Obesity, morbid, due to leptin receptor deficiency, 614963 (3)
LIPA	Cholesteryl ester storage disease, 278000 (3) Wolman disease, 278000 (3)
LOR	Vohwinkel syndrome with ichthyosis, 604117 (3)
LRRC56	Ciliary dyskinesia, primary, 39, 618254 (3)
LTBP4	Cutis laxa, autosomal recessive, type IC, 613177 (3)
LZTR1	{Schwannomatosis-2, susceptibility to}, 615670 (3) Noonan syndrome 10, 616564 (3) Noonan syndrome 2, 605275 (3)
MAFA	Insulinomatosis and diabetes mellitus, 147630 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MCC	Colorectal cancer, somatic, 114500 (3)
MMAB	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MPV17	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
MRPS34	Combined oxidative phosphorylation deficiency 32, 617664 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MTOR	Focal cortical dysplasia, type II, somatic, 607341 (3) Smith-Kingsmore syndrome, 616638 (3)
MUC5B	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYH9	Deafness, autosomal dominant 17, 603622 (3) Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
MYO7A	Deafness, autosomal dominant 11, 601317 (3) Deafness, autosomal recessive 2, 600060 (3) Usher syndrome, type 1B, 276900 (3)
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
NLRP1	Autoinflammation with arthritis and dyskeratosis, 617388 (3) {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NPRL3	Epilepsy, familial focal, with variable foci 3, 617118 (3)
NUP205	?Nephrotic syndrome, type 13, 616893 (3)
OPLAH	5-oxoprolinase deficiency, 260005 (3)
OPN1LW	Blue cone monochromacy, 303700 (3) Colorblindness, protan, 303900 (3)
ORAI1	Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3)
PAX6	Foveal hypoplasia 1, 136520 (3) Aniridia, 106210 (3) Anterior segment dysgenesis 5, multiple subtypes, 604229 (3) Cataract with late-onset corneal dystrophy, 106210 (3) Keratitis, 148190 (3) Optic nerve hypoplasia, 165550 (3) ?Morning glory disc anomaly, 120430 (3) ?Coloboma of optic nerve, 120430 (3) ?Coloboma, ocular, 120200 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCDH15	Deafness, autosomal recessive 23, 609533 (3) Usher syndrome, type 1D/F digenic, 601067 (3) Usher syndrome, type 1F, 602083 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PER3	?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PEX6	Heimler syndrome 2, 616617 (3) Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3) Peroxisome biogenesis disorder 4B, 614863 (3)
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3) Liebenberg syndrome, 186550 (4)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PLCZ1	?Spermatogenic failure 17, 617214 (3)
PLEKHG5	Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3) Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PLOD2	Bruck syndrome 2, 609220 (3)
PNPT1	Combined oxidative phosphorylation deficiency 13, 614932 (3) Deafness, autosomal recessive 70, 614934 (3)
POT1	{Glioma susceptibility 9}, 616568 (3) {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)
POU3F4	Deafness, X-linked 2, 304400 (3)
PRDM12	Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)
PRKAR1A	Adrenocortical tumor, somatic, (3) Carney complex, type 1, 160980 (3) Acrodysostosis 1, with or without hormone resistance, 101800 (3) Myxoma, intracardiac, 255960 (3) Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
PRKDC	Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PTPRJ	Colon cancer, somatic, 114500 (3)
RARS	Leukodystrophy, hypomyelinating, 9, 616140 (3)
RBMX	?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RECQL4	Baller-Gerold syndrome, 218600 (3) RAPADILINO syndrome, 266280 (3) Rothmund-Thomson syndrome, 268400 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SALL1	Townes-Brocks branchiootorenal-like syndrome, 107480 (3) Townes-Brocks syndrome 1, 107480 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SCN3A	Epilepsy, familial focal, with variable foci 4, 617935 (3) Epileptic encephalopathy, early infantile, 62, 617938 (3)
SIK1	Epileptic encephalopathy, early infantile, 30, 616341 (3)
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SLC37A4	Glycogen storage disease Ib, 232220 (3) Glycogen storage disease Ic, 232240 (3)
SLC3A1	Cystinuria, 220100 (3)
SLC46A1	Folate malabsorption, hereditary, 229050 (3)
SLC6A8	Cerebral creatine deficiency syndrome 1, 300352 (3)
SMPD1	Niemann-Pick disease, type A, 257200 (3) Niemann-Pick disease, type B, 607616 (3)
SOHLH1	Ovarian dysgenesis 5, 617690 (3) Spermatogenic failure 32, 618115 (3)
SON	ZTTK syndrome, 617140 (3)
SPATA7	Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
STAG2	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities, 301022 (3)
STAG3	Premature ovarian failure 8, 615723 (3)
STUB1	?Spinocerebellar ataxia 48, 618093 (3) Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYNJ1	Epileptic encephalopathy, early infantile, 53, 617389 (3) Parkinson disease 20, early-onset, 615530 (3)
TBCD	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TBX1	Conotruncal anomaly face syndrome, 217095 (3) DiGeorge syndrome, 188400 (3) Tetralogy of Fallot, 187500 (3) Velocardiofacial syndrome, 192430 (3)
TCF3	Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TCOF1	Treacher Collins syndrome 1, 154500 (3)
TDP1	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
TMIE	Deafness, autosomal recessive 6, 600971 (3)
TRAK1	Epileptic encephalopathy, early infantile, 68, 618201 (3)
TREH	Trehalase deficiency, 612119 (3)
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
TUBB1	Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
UNC93B1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
VEGFC	Lymphatic malformation 4, 615907 (3)
VPS11	Leukodystrophy, hypomyelinating, 12, 616683 (3)
VPS13A	Choreoacanthocytosis, 200150 (3)
VRK1	Pontocerebellar hypoplasia type 1A, 607596 (3)
WDR66	Spermatogenic failure 33, 618152 (3)
WNK1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3)
YME1L1	?Optic atrophy 11, 617302 (3)
ZNF141	?Polydactyly, postaxial, type A6, 615226 (3)
ZNF148	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)
ZNF408	?Exudative vitreoretinopathy 6, 616468 (3) Retinitis pigmentosa 72, 616469 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ABCC6, ACVR1, AHDC1, AKAP9, ALG1, ALG9, ALMS1, AP1S3, AR, ATXN2, ATXN7, BARD1, BCAM, BCKDHA, BRAT1, C8A, CACNA1A, CACNA1S, CCDC40, CD207, CD3G, CDKN1C, CDSN, CES1, CLCNKB, COL18A1, COL4A2, COL6A2, CPS1, CREB3L1, CRLF1, CTSA, CUL7, CYP2B6, CYP3A5, DCXR, DPY19L2, DSG1, EIF2AK3, EMG1, ERMARD, EVC, F12, FAM58A, FANCD2, FANCM, FBP1, FERMT1, FGF10, FLG, FMN2, FOXC1, FYCO1, GNAL, GRIA3, GYPA, GYPB, HADHB, HLA-A, HLA-B, HNF1A, HUWE1, HYAL1, IGSF3, INVS, ISCU, KIF1A, KL, KRT83, LAMA4, LDLRAP1, LEPR, LIPA, LOR, LTBP4, LZTR1, MAP3K1, MMAB, MPV17, MSH3, MTOR, MYH9, MYO3A, MYO7A, NAGLU, NEFH, NLRP1, NUP205, OPLAH, OPN1LW, ORAI1, PAX6, PCDH15, PDE11A, PDHA1, PER3, PEX6, PITX1, PLEKHG5, PLOD2, PNPT1, POT1, POU3F4, PRDM12, PRKAR1A, PRKDC, RARS, RBMX, RECQL4, RTTN, SALL1, SCARF2, SIK1, SLC29A3, SLC37A4, SLC3A1, SLC46A1, SLC6A8, SMPD1, SNCAIP, SPATA7, STAG3, STUB1, SYNE1, TBP, TBX1, TCF3, TCOF1, TDP1, TENM1, TMIE, TSPYL1, TUBB1, UNC93B1, VEGFC, VPS11, VPS13A, VRK1, WNK1, ZNF141, ZNF408, ZNF480, ZSWIM6,

ABCC6	Pseudoxanthoma elasticum
ACVR1	Fibrodysplasia ossificans progressiva
AHDC1	Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome)
AKAP9	Long QT syndrome 11
ALG1	Congenital disorder of glycosylation, type Ik
ALG9	Congenital disorder of glycosylation, type Il
ALMS1	Alstrom syndrome
AP1S3	Psoriasis 15, pustular, susceptibility to
AR	Androgen insensitivity Androgen insensitivity, partial
ATXN2	Spinocerebellar ataxia 2
ATXN7	Spinocerebellar ataxia 7
BARD1	Breast cancer, susceptibility to
BCAM	Blood group, Lutheran system Blood group, Auberger system Lutheran, null
BCKDHA	Maple syrup urine disease, type Ia
BRAT1	Rigidity and multifocal seizure syndrome, lethal neonatal
C8A	Complement component 8 deficiency, type I
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CACNA1S	Malignant hyperthermia susceptibility 5 Thyrotoxic period paralysis, susceptibility 1 Hypokalemic periodic paralysis, type 1
CCDC40	Ciliary dyskinesia, primary, 15
CD207	Birbeck granule deficiency
CD3G	Immunodeficiency 17
CDKN1C	IMAGE syndrome Beckwith-Wiedemann syndrome
CDSN	Hypotrichosis 2 Peeling skin syndrome 1
CES1	Carboxylesterase 1 deficiency
CLCNKB	Bartter syndrome, type 3 Bartter syndrome, type 4, digenic
COL18A1	Knobloch syndrome 1
COL4A2	Hemorrhage, intracerebral, susceptibility to
COL6A2	Ullrich congenital muscular dystrophy 1 Myosclerosis, congenital Bethlem myopathy 1 Epilepsy, progressive myoclonic, autosomal recessive
CPS1	Carbamoylphosphate synthetase I deficiency
CREB3L1	Osteogenesis imperfecta, type XVI
CRLF1	Crisponi syndrome Cold-induced sweating syndrome, type 1
CTSA	Galactosialidosis
CUL7	Three M syndrome 1 Yakut short stature syndrome
CYP2B6	Efavirenz, poor metabolism of
CYP3A5	Drug metabolism, CYP3A5-related
DCXR	Pentosuria
DPY19L2	Spermatogenic failure 9 Globozoospermia
DSG1	Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
EMG1	Bowen-Conradi syndrome
ERMARD	Periventricular nodular heterotopia 6
EVC	Ellis-van Creveld syndrome Weyers acrofacial dysostosis
F12	Angioedema, hereditary, type III
FAM58A	STAR syndrome Toe syndactyly, telecanthus, and anogenital and renal malformations
FANCD2	Fanconi anemia, complementation group D2
FANCM	Fanconi anemia type M
FBP1	Fructose-1,6-bisphosphatase deficiency
FERMT1	Kindler syndrome
FGF10	Lacrimoauriculodentodigital syndrome
FLG	Icthyosis vulgaris
FMN2	Mental retardation, autosomal recessive, 47
FOXC1	Peters anomaly Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1
FYCO1	Cataract, autosomal recessive congenital 2
GNAL	Primary torsion dystonia
GRIA3	Mental retardation, X-linked 94
GYPA	Blood group, MN locus Blood group, Erik
GYPB	Blood group, Ss
HADHB	Trifunctional protein deficiency
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
HNF1A	Renal cell carcinoma, nonpapillary clear cell Liver adenomatosis Maturity onset diabetes of the young, type III
HUWE1	Mental retardation, X-linked syndromic, Turner type
HYAL1	Mucopolysaccharidosis type IX
IGSF3	Lacrimal duct defect
INVS	Nephronophthisis 2
ISCU	Myopathy with lactic acidosis, hereditary
KIF1A	Mental retardation, autosomal dominant 9 Neuropathy, hereditary sensory, type IIC Spastic paraplegia 30, autosomal recessive
KL	Tumoral calcinosis, hyperphosphatemic
KRT83	Monilethrix
LAMA4	Cardiomyopathy, dilated, 1JJ
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive
LEPR	Leptin receptor deficiency
LIPA	Cholesterol ester storage disease Wolman disease
LOR	Vohwinkel syndrome, variant form
LTBP4	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
LZTR1	Schwannomatosis 2 Noonan syndrome 10
MAP3K1	46,XY sex reversal 6
MMAB	Methylmalonic acidemia, cblB type
MPV17	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MSH3	Endometrial carcinoma
MTOR	Smith-Kingsmore syndrome
MYH9	Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
MYO3A	Deafness, autosomal recessive 30
MYO7A	Deafness, autosomal recessive 2 Usher syndrome, type 1B
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
NLRP1	Corneal intraepithelial dyskeratosis and ectodermal dysplasia
NUP205	Nephrotic syndrome, type 13
OPLAH	5-oxoprolinase deficiency
OPN1LW	Colorblindness, partial, protan series Blue cone monochromacy Red cone polymorphism
ORAI1	Immunodeficiency 9
PAX6	Peters anomaly Cataract with late-onset corneal dystrophy Aniridia Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome) Optic nerve hypoplasia Keratitis Foveal hypoplasia 1 Coloboma, ocular Morning glory disc anomaly
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency Leigh syndrome, X-linked
PER3	Advanced sleep phase syndrome, familial, 3
PEX6	Heimler syndrome 2
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Liebenberg syndrome
PLEKHG5	Charcot-Marie-Tooth disease C, recessive intermediate Spinal muscular atrophy, distal, autosomal recessive, 4
PLOD2	Bruck syndrome 2
PNPT1	Deafness, autosomal recessive 70
POT1	Glioma susceptibility 9 Melanoma, cutaneous malignant, susceptibility to 10
POU3F4	Deafness, X-linked 2
PRDM12	Neuropathy, hereditary sensory and autonomic, type VIII
PRKAR1A	Pigmented nodular adrenocortical disease, primary, 1 Carney complex, type 1 Myxoma, intracardiac Acrodysostosis 1, with or without hormone resistance
PRKDC	Immunodeficiency 26 with or without neurologic abnormalities
RARS	Leukodystrophy, hypomyelinating 9
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
RECQL4	Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures
SALL1	Townes-Brocks syndrome
SCARF2	Van den Ende-Gupta syndrome
SIK1	Epileptic encephalopathy, early infantile 30
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SLC37A4	Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id
SLC3A1	Cystinuria
SLC46A1	Folate malabsorption, hereditary
SLC6A8	Creatine deficiency syndrome 1
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B
SNCAIP	Parkinson disease
SPATA7	Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related
STAG3	Premature ovarian failure 8
STUB1	Spinocerebellar ataxia, autosomal recessive 16
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
TBP	Spinocerebellar ataxia 17
TBX1	Conotruncal anomaly face syndrome Tetralogy of Fallot
TCF3	Agammaglobulinemia 8, autosomal dominant
TCOF1	Treacher Collins syndrome 1
TDP1	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
TENM1	Microphthalmia, isolated, with coloboma 9
TMIE	Deafness, autosomal recessive 6
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome 46, XY disorder of sex development
TUBB1	Macrothrombocytopenia, autosomal dominant, TUBB1-related
UNC93B1	Herpes simplex encephalitis, susceptibility to, 1
VEGFC	Lymphedema, hereditary, ID
VPS11	Leukodystrophy, hypomyelinating 12
VPS13A	Choreoacanthocytosis
VRK1	Pontocerebellar hypoplasia type 1A
WNK1	Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA
ZNF141	Postaxial polydactyly type A, autosomal recessive
ZNF408	Exudative vitreoretinopathy 6 Retinitis pigmentosa 72
ZNF480	Schizophrenia
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 11054
Number of Genes: 1054

Export to: CSV

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A1CF
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	10	.	52566602	470.413	CT	AG	PASS	0/1	60	NON_SYNONYMOUS_CODING	MODERATE								None None	None None None None	A1CF\|0.301078858\|27.59%
AAMDC
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	11	.	77629132	2756.65	ATC	ATTC	PASS	1/1	99	None	None	None							None None	None None None None	AAMDC\|0.466531332\|17.33%,INTS4\|0.13856273\|44.61%
ABCC6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	16	.	16276341	1008.77	TACTC	AACTT	PASS	0/1	73	NON_SYNONYMOUS_CODING	MODERATE								None None	None None None None	ABCC6\|0.022547171\|72.9%
ABCF1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	6	.	30558477	54.2135	GAG	GAAG	PASS	0/1	30	None	None	None							None None	None None None None	ABCF1\|0.199313589\|36.78%
AC005609.1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	5	.	140242451	3210.41	GCC	GC	PASS	1/1	118	FRAME_SHIFT	HIGH								None None	None None None None	PCDHA1\|0.053770874\|61.55%,PCDHA2\|0.022057729\|73.14%,PCDHA3\|0.065561586\|58.47%,PCDHA4\|0.052208094\|62.01%,PCDHA5\|0.043866789\|64.55%,PCDHA6\|0.050872533\|62.4%,PCDHA7\|0.028518768\|70.18%,PCDHA8\|0.015875262\|76.54%,PCDHA9\|0.018630148\|74.91%,PCDHA10\|0.087661567\|53.69%
AC008132.1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	22	.	18721561	74.2976	ATTC	TTTG	PASS	1/1	13	NON_SYNONYMOUS_CODING	MODERATE								None None	None None None None	None
AC009892.10
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	19	.	55147504	53.6237	TG...	CG...	PASS	1/1	6	NON_SYNONYMOUS_CODING	MODERATE								None None	None None None None	LILRB1\|0.00078612\|96.76%
AC010536.1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	16	.	87729334	3841.85	CC	CAC	PASS	0/1	330	FRAME_SHIFT	HIGH								None None	None None None None	JPH3\|0.231218042\|33.27%
AC012123.1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	18	.	30352057	795.74	GC...	GC...	PASS	0/1	85	FRAME_SHIFT	HIGH								None None	None None None None	KLHL14\|0.473561671\|17.04%
AC018755.1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass	19	.	52097560	376.682	GA...	GA...	PASS	0/1	73	FRAME_SHIFT	HIGH								None None	None None None None	None