ClinVar Miner

Variants from NIHR Bioresource Rare Diseases, University of Cambridge

Location: United Kingdom — Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
474 1077 287 7 0 1822

Gene and significance breakdown #

Total genes and gene combinations: 385
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
VWF 24 64 46 0 131
BMPR2 87 41 0 0 127
USH2A 11 46 28 2 87
ABCA4 16 64 1 3 83
F8 31 31 7 0 68
F11 12 20 14 0 46
MYH9 12 12 15 0 39
PROS1 4 17 16 0 36
PROC 1 24 6 0 31
SERPINC1 2 21 5 0 27
F9 13 13 2 0 26
ITGA2B 6 10 9 0 25
ACTN1 3 9 14 0 24
EYS 4 18 1 1 24
F7 3 19 3 0 24
ABCB4 3 19 0 0 22
F5 1 11 10 0 21
EIF2AK4 4 15 0 0 19
GP1BB, SEPT5-GP1BB 1 12 6 0 19
RUNX1 2 14 2 0 18
TUBB1 0 7 12 0 18
CRB1 3 13 1 0 17
RP1 5 12 0 0 17
NFKB1 11 5 0 0 15
FGG 3 6 5 0 14
ITGB3 2 7 5 0 14
ANKRD26 3 9 1 0 13
CACNA1F 2 11 0 0 13
F10 0 7 6 0 13
MYO7A 3 10 0 0 13
NBEAL2 2 9 2 0 13
RPGR 3 10 0 0 13
GP1BA 1 8 3 0 12
RASGRP2 0 12 0 0 12
ABCB11 2 8 1 0 11
CNGB1 1 9 1 0 11
HPS6 4 4 3 0 11
PDE6B 2 8 0 0 10
PROM1 6 4 0 0 10
FGA 5 4 0 0 9
FGB 0 3 7 0 9
ACVRL1 2 6 0 0 8
HPS1 2 7 0 0 8
TBX4 0 8 0 0 8
ADGRV1 1 6 0 0 7
STAT1 1 6 0 0 7
TRPM1 0 7 0 0 7
ETV6 0 2 4 0 6
GATA1 0 4 2 0 6
IKZF1 3 3 0 0 6
IQCB1 3 3 0 0 6
NOTCH3 1 5 0 0 6
PRPF31 0 6 0 0 6
PRPH2 1 5 0 0 6
RHO 0 6 0 0 6
RPGRIP1 0 6 0 0 6
SPTA1 0 6 0 0 6
STAT3 2 1 3 0 6
THBD 0 3 3 0 6
AHI1 0 5 0 0 5
BTK 1 4 0 0 5
CERKL 1 4 0 0 5
CLN3 0 5 0 0 5
CNGB3 2 3 0 0 5
CTLA4 0 3 2 0 5
F2 0 5 0 0 5
GNAO1 1 4 0 0 5
GUCY2D 0 4 1 0 5
HPS5 2 2 1 0 5
IMPG2 1 4 0 0 5
MPL 1 5 0 0 5
NMNAT1 0 5 0 0 5
RP2 1 4 0 0 5
STXBP1 3 2 0 0 5
VPS13B 0 2 3 0 5
C1QTNF5, MFRP 0 4 0 0 4
CDHR1 1 3 0 0 4
CLASP1, RNU4ATAC 0 4 0 0 4
CNGA3 0 4 0 0 4
COL18A1 0 4 0 0 4
F13A1 0 4 0 0 4
HPS3 1 3 0 0 4
KCNQ2 1 3 0 0 4
KMT2B 3 1 0 0 4
LRBA 1 1 2 0 4
MED12L, P2RY12 0 2 2 0 4
NF1 2 2 0 0 4
NPHS1 1 3 0 0 4
NR2E3 0 4 0 0 4
PDE6C 0 4 0 0 4
PLG 0 1 3 0 4
TBXA2R 0 1 3 0 4
USH1C 1 3 0 0 4
ANKRD11 2 1 0 0 3
APOL1 3 0 0 0 3
ARPC1B 3 0 0 0 3
BBS5 0 2 0 1 3
CEP290 1 1 1 0 3
CFAP410 0 3 0 0 3
COL5A1 0 1 2 0 3
CRX 0 3 0 0 3
CSF3R 0 3 0 0 3
CYCS 0 2 1 0 3
FLI1 0 3 0 0 3
GP9 2 2 0 0 3
GRM6 1 2 0 0 3
HGSNAT 0 3 0 0 3
ITGB3, THCAT158 0 2 1 0 3
KCNV2 1 2 0 0 3
LCA5 3 0 0 0 3
LOC102723833, USH2A 0 3 0 0 3
LOC102724058, SCN1A 2 1 0 0 3
LRP5 1 2 0 0 3
MCFD2 0 3 0 0 3
MERTK 1 2 0 0 3
NFKB2 3 0 0 0 3
OCA2 0 3 0 0 3
PDE6A 1 2 0 0 3
PIK3R1 2 1 0 0 3
PMM2 2 2 0 0 3
PTPN11 2 1 0 0 3
RPE65 1 2 0 0 3
SMARCAL1 0 3 0 0 3
TYR 0 3 0 0 3
WASF1 3 0 0 0 3
WT1 0 3 0 0 3
ABCC6 1 1 0 0 2
ABCG5, DYNC2LI1 0 0 2 0 2
ABHD12 1 1 0 0 2
ADA2 0 2 0 0 2
ALMS1 0 2 0 0 2
ASXL3 0 2 0 0 2
ATF6 0 2 0 0 2
ATP1A3 0 2 0 0 2
BBS1, ZDHHC24 0 2 0 0 2
BBS10 1 1 0 0 2
BCS1L 2 0 0 0 2
BEST1 1 1 0 0 2
CABP4 0 2 0 0 2
CACNA2D4 0 2 0 0 2
CASK 0 2 0 0 2
CD19 0 2 0 0 2
CD27 2 0 0 0 2
CLIC6, KCNE1, KCNE2, MRPS6, RCAN1, RUNX1, SLC5A3, SMIM11A 0 2 0 0 2
CLRN1 1 1 0 0 2
CNGA1, LOC101927157 2 0 0 0 2
COL18A1, SLC19A1 0 2 0 0 2
COL1A1 0 2 0 0 2
CP, HPS3 1 1 0 0 2
CRB2 0 2 0 0 2
DIAPH1 0 2 0 0 2
DNMT3A 0 2 0 0 2
DOCK8 1 1 0 0 2
ENG, LOC102723566 0 2 0 0 2
EYS, PHF3 0 1 1 0 2
FAM161A 0 2 0 0 2
GNE 0 2 0 0 2
GPR143 0 2 0 0 2
GUCA1A 0 2 0 0 2
ICOS 0 2 0 0 2
IL12RB1 1 1 0 0 2
KCTD7 0 2 0 0 2
KIAA0586 0 2 0 0 2
KLHL7 0 2 0 0 2
LRP2 0 2 0 0 2
LURAP1L, TYRP1 1 1 0 0 2
MECP2 0 2 0 0 2
MTR 0 2 0 0 2
NYX 0 2 0 0 2
PANK2 1 1 0 0 2
PC 2 0 0 0 2
PCARE 2 0 0 0 2
PHYH 0 2 0 0 2
PI4KA, SERPIND1 0 0 2 0 2
PLAT 0 0 2 0 2
PURA 0 2 0 0 2
RAG1 0 2 0 0 2
RAG2 2 0 0 0 2
RDH12, ZFYVE26 1 1 0 0 2
REEP1 1 1 0 0 2
RLBP1 0 2 0 0 2
SACS 0 2 0 0 2
SCN1A 2 0 0 0 2
SCN8A 1 1 0 0 2
SEC23B 0 2 0 0 2
SERPINF2 1 0 1 0 2
SETD5 1 1 0 0 2
SGSH 2 0 0 0 2
SHANK3 0 2 0 0 2
SLC13A5 0 2 0 0 2
SLC2A1 1 1 0 0 2
SLC6A1 0 2 0 0 2
SLFN14 0 2 0 0 2
SPG7 2 0 0 0 2
TBC1D24 0 2 0 0 2
THPO 0 0 2 0 2
TOPORS 2 0 0 0 2
TP53RK 0 2 0 0 2
TTC37 0 2 0 0 2
TTC7A 2 0 0 0 2
TUBA1A 1 1 0 0 2
TUBB4A 1 1 0 0 2
WAS 1 0 1 0 2
WDR45 1 1 0 0 2
WDR73 2 0 0 0 2
AARS2 0 1 0 0 1
ABCA4, LOC112590828 0 1 0 0 1
ABCG4, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1, APOA4, APOA5, APOC3, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, BACE1, BARX2, BCL9L, BLID, BSX, BUD13, C11orf45, C1QTNF5, C2CD2L, CADM1, CBL, CCDC15, CCDC153, CCDC84, CD3D, CD3E, CD3G, CDON, CEP164, CHEK1, CLMP, CRTAM, CXCR5, DCPS, DDX25, DDX6, DPAGT1, DSCAML1, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXR1, FOXRED1, FXYD2, FXYD6, FXYD6-FXYD2, GRAMD1B, GRIK4, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HSPA8, HYLS1, HYOU1, IFT46, IL10RA, JAML, JHY, KCNJ1, KCNJ5, KIRREL3, KMT2A, LINC02873, LOC101929473, MCAM, MFRP, MIR100, MIR125B1, MIRLET7A2, MPZL2, MPZL3, MSANTD2, NECTIN1, NFRKB, NLRX1, NRGN, NXPE2, NXPE4, OAF, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G2P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PDZD3, PHLDB1, PKNOX2, POU2F3, PRDM10, PUS3, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SIAE, SIDT2, SIK3, SLC37A2, SLC37A4, SNX19, SORL1, SPA17, SRPRA, ST14, ST3GAL4, STT3A, TAGLN, TBCEL, TBRG1, TECTA, THY1, TIRAP, TLCD5, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TP53AIP1, TRAPPC4, TREH, TRIM29, TTC36, UBASH3B, UBE4A, UPK2, USP2, VPS11, VSIG2, VWA5A, ZBTB44, ZNF202, ZPR1 0 1 0 0 1
ABCG5 0 1 0 0 1
ABCG5, ABCG8 0 0 1 0 1
ABI2, ALS2, AOX1, BMPR2, BZW1, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CLK1, CTLA4, CYP20A1, FAM117B, FAM126B, FLACC1, FZD7, ICA1L, ICOS, KCTD18, MPP4, NBEAL1, NDUFB3, NIF3L1, NOP58, ORC2, PPIL3, RAPH1, SGO2, SPATS2L, STRADB, SUMO1, TMEM237, TRAK2, WDR12 1 0 0 0 1
ABI2, BMPR2, CARF, CD28, CTLA4, CYP20A1, FAM117B, FZD7, ICA1L, ICOS, NBEAL1, NOP58, RAPH1, SUMO1, WDR12 1 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, C11orf45, CCDC15, CDON, CHEK1, DCPS, DDX25, EI24, ESAM, ETS1, FAM118B, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, HEPACAM, HEPN1, HYLS1, IGSF9B, JAM3, KCNJ1, KCNJ5, KIRREL3, LINC02714, LINC02743, LINC02873, LOC101929473, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, OPCML, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PRDM10, PUS3, ROBO3, ROBO4, RPUSD4, SIAE, SLC37A2, SNX19, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBRG1, THYN1, TIRAP, TMEM218, TMEM45B, TP53AIP1, VPS26B, VSIG2, ZBTB44 1 0 0 0 1
ACADVL 1 0 0 0 1
ACADVL, DLG4 1 0 0 0 1
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, C6orf120, C6orf99, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DLL1, DYNLT1, ERMARD, ESR1, EZR, FAM120B, FBXO5, FNDC1, FRMD1, GPR31, GTF2H5, IGF2R, IPCEF1, KIF25, LINC02487, LOC729681, LPA, MAP3K4, MAS1, MPC1, MRPL18, MTRF1L, MYCT1, NOX3, OPRM1, PACRG, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RGS17, RMND1, RNASET2, RPS6KA2, RSPH3, SCAF8, SDIM1, SERAC1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SNX9, SOD2, SYNE1, SYNJ2, SYTL3, TAGAP, TBP, TBXT, TCP1, TCTE3, TFB1M, THBS2, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZBTB2, ZDHHC14 1 0 0 0 1
ACOT8, ACTR5, ADA, ADIG, ARHGAP40, BLCAP, BPI, CCN5, CD40, CDH22, CHD6, CTNNBL1, CTSA, DBNDD2, DHX35, DLGAP4, DNTTIP1, DSN1, ELMO2, EMILIN3, EPPIN, EPPIN-WFDC6, EYA2, FAM83D, FITM2, GDAP1L1, GHRH, GTSF1L, HNF4A, IFT52, JPH2, KCNK15, KCNS1, KIAA1755, L3MBTL1, LBP, LOC100128028, LPIN3, MAFB, MANBAL, MATN4, MMP9, MROH8, MYBL2, MYL9, NCOA3, NCOA5, NDRG3, NEURL2, NNAT, OCSTAMP, OSER1, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLCG1, PLTP, PPP1R16B, PTPRT, R3HDML, RAB5IF, RALGAPB, RBL1, RBPJL, RIMS4, RPN2, RPRD1B, SAMHD1, SDC4, SEMG1, SEMG2, SERINC3, SGK2, SLA2, SLC12A5, SLC13A3, SLC2A10, SLC32A1, SLC35C2, SLPI, SNHG11, SNX21, SOGA1, SPATA25, SPINT3, SPINT4, SRC, SRSF6, STK4, SULF2, SYS1, TGIF2, TGIF2-RAB5IF, TGM2, TLDC2, TNNC2, TOMM34, TOP1, TOX2, TP53RK, TP53TG5, TTI1, TTPAL, UBE2C, VSTM2L, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZHX3, ZMYND8, ZNF334, ZNF335, ZNF840P, ZSWIM1, ZSWIM3 0 1 0 0 1
ADAMTS13 1 0 0 0 1
AIFM3, ARVCF, BCR, C22orf39, CCDC116, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, HIC2, HIRA, IGLC1, IGLL5, KLHL22, LZTR1, MAPK1, MED15, MICAL3, MIR130B, MRPL40, P2RX6, PEX26, PI4KA, PPIL2, PPM1F, PRAME, PRODH, RAB36, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, USP18, USP41, VPREB1, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF74 1 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 0 1 0 0 1
AIPL1 1 0 0 0 1
AIRE 1 0 0 0 1
ALS2 0 1 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 1 0 0 1
ARL2BP 0 1 0 0 1
ARL6 0 1 0 0 1
ARVCF, COMT, DGCR6L, DGCR8, FAM230A, GGTLC3, GNB1L, GP1BB, KLHL22, MED15, PI4KA, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, TANGO2, TBX1, TMEM191B, TRMT2A, TXNRD2, USP41, ZDHHC8, ZNF74 0 1 0 0 1
ARX 1 0 0 0 1
ASXL1 1 0 0 0 1
ATL1 1 0 0 0 1
ATP4A, CD22, COX6B1, DMKN, ETV2, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GPR42, HAMP, HAUS5, HPN, HSPB6, IGFLR1, KMT2B, KRTDAP, LGI4, LIN37, LSR, MAG, PROSER3, PSENEN, RBM42, SBSN, TMEM147, U2AF1L4, UPK1A, USF2, ZBTB32 1 0 0 0 1
AXDND1, NPHS2 1 0 0 0 1
BBS1 0 1 0 0 1
BEND2, CDKL5, RAI2, SCML2 0 0 1 0 1
BICD2 0 1 0 0 1
BLOC1S3 0 0 1 0 1
BMPR2, CARF, FAM117B, ICA1L, NBEAL1, WDR12 0 1 0 0 1
BMPR2, NOP58 1 0 0 0 1
BMPR2, NOP58, SUMO1 0 1 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC102723833, LOC107325941, LOC110121042, LOC111429604, LYPLAL1, LYPLAL1-DT, MARK1, MIR194-1, MIR215, MIR664A, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 1
C12orf65 0 1 0 0 1
C19orf12 1 0 0 0 1
C3 0 1 0 0 1
CACNA1A 0 1 0 0 1
CAMK2B 0 1 0 0 1
CARD9 1 0 0 0 1
CBR1, RUNX1, SETD4 1 0 0 0 1
CC2D1A 0 1 0 0 1
CD40LG 0 0 1 0 1
CD79A 1 0 0 0 1
CDH3 1 0 0 0 1
CDK5RAP2 1 0 0 0 1
CEP104 1 0 0 0 1
CEP78 1 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, NEUROD1 0 1 0 0 1
CFH, KCNT2 0 1 0 0 1
CHM 0 1 0 0 1
CNST, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, SMYD3, TFB2M 0 1 0 0 1
COL4A5 0 1 0 0 1
CPA6 0 1 0 0 1
CPA6, LOC102724708 0 1 0 0 1
CSTB 1 0 0 0 1
CTNNA1 0 1 0 0 1
CXCR4 1 0 0 0 1
CYP4V2 0 1 0 0 1
CYP4V2, F11, KLKB1 0 1 0 0 1
CYRIA, DDX1, MYCN, MYCNOS 0 1 0 0 1
DHX30 0 1 0 0 1
DKC1 0 0 1 0 1
DTNBP1 1 0 0 0 1
DYRK1A 1 0 0 0 1
EBF3 1 0 0 0 1
EBF3, GLRX3, MGMT 0 1 0 0 1
ELANE 1 0 0 0 1
ENG 1 0 0 0 1
EYS, LOC113175011 0 1 0 0 1
F13B 1 0 0 0 1
FA2H 0 1 0 0 1
FANCD2 0 1 0 0 1
FANCD2, FANCD2OS 0 1 0 0 1
FAS 1 0 0 0 1
FLNA 0 0 1 0 1
FOXG1 1 0 0 0 1
G6PC3 1 0 0 0 1
GABRB3 0 1 0 0 1
GFI1B 0 0 1 0 1
GJC2 1 0 0 0 1
GNAL 0 1 0 0 1
GNAT2 0 1 0 0 1
GNB1 0 1 0 0 1
GP1BB, SEPT5-GP1BB, SEPTIN5 1 0 1 0 1
GP6 0 0 1 0 1
GPI 0 1 0 0 1
GPR179 1 0 0 0 1
GRIA3 0 1 0 0 1
HACE1 1 0 0 0 1
HAX1 0 1 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 1
HMBS 1 0 0 0 1
HPD 0 1 0 0 1
HTRA1 0 1 0 0 1
IFNGR1 1 0 0 0 1
IFT140, LOC105371046 0 1 0 0 1
IMPG1 0 1 0 0 1
INCA1, KIF1C 1 0 0 0 1
INSL6, JAK2 1 1 0 0 1
IRF8 1 0 0 0 1
KCNB1 0 1 0 0 1
KCNH1 0 1 0 0 1
KCNJ10 1 0 0 0 1
KCNK3 0 1 0 0 1
KDM5C 0 1 0 0 1
KRAS 0 1 0 0 1
LMAN1 0 1 0 0 1
LMX1B 0 1 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 1
LOC112806037, MERTK 0 1 0 0 1
MAGT1 0 1 0 0 1
MALL, MTLN, NPHP1 0 1 0 0 1
MANBA, NFKB1 1 0 0 0 1
MECOM 0 1 0 0 1
MEF2C 0 1 0 0 1
MFSD8 0 1 0 0 1
MT-ATP6 0 1 0 0 1
MTM1 1 0 0 0 1
MTOR 1 0 0 0 1
NFKBIA 1 0 0 0 1
NGLY1 0 1 0 0 1
NIPA1 1 0 0 0 1
NLRC4, SLC30A6, SPAST 0 1 0 0 1
NPHS2 1 0 0 0 1
NPM1 1 0 0 0 1
NRAS 0 1 0 0 1
NUP93 0 1 0 0 1
PAX2 0 1 0 0 1
PCDH15 0 1 0 0 1
PDE10A 0 1 0 0 1
PIGT 0 1 0 0 1
PIK3CD 1 0 0 0 1
PKLR 0 1 0 0 1
PLA2G6 1 0 0 0 1
PNPLA4, PUDP, STS, VCX 1 0 0 0 1
PRPF8 0 1 0 0 1
RBP3 0 1 0 0 1
RBP4 0 1 0 0 1
RFXANK 0 1 0 0 1
RGR 1 0 0 0 1
RHOBTB2 1 0 0 0 1
RPL11 0 1 0 0 1
RPS26 0 1 0 0 1
SATB2 0 1 0 0 1
SBDS 0 1 0 0 1
SCN10A 0 1 0 0 1
SCN11A 0 1 0 0 1
SCN1A, SCN9A 0 1 0 0 1
SCN2A 0 1 0 0 1
SERPINE1 0 1 0 0 1
SIL1 1 0 0 0 1
SLC18A2 0 1 0 0 1
SLC33A1 0 1 0 0 1
SLC9A6 0 1 0 0 1
SNRNP200 0 1 0 0 1
SNX14 0 1 0 0 1
SPAST 1 0 0 0 1
SPR 1 0 0 0 1
SPTLC1 1 0 0 0 1
SRC 0 1 0 0 1
SRCAP 0 1 0 0 1
SRD5A3 1 0 0 0 1
STK4 1 0 0 0 1
SYNGAP1 0 1 0 0 1
TANGO2 1 0 0 0 1
TCF4 1 0 0 0 1
TERT 1 0 0 0 1
THAP1 0 1 0 0 1
TINF2 0 0 1 0 1
TMPRSS6 0 1 0 0 1
TRIO 0 1 0 0 1
TRIP12 0 1 0 0 1
TRPC6 0 1 0 0 1
TRPM6 0 1 0 0 1
TSC2 0 1 0 0 1
TSPAN12 0 1 0 0 1
WDR81 0 1 0 0 1
ZAP70 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 236
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Retinitis pigmentosa 38 151 22 2 213
Pulmonary arterial hypertension 90 59 0 0 148
Retinal dystrophy 28 82 6 0 116
Thrombocytopenia 11 50 32 0 93
von Willebrand disorder 20 39 33 0 92
Inherited Immunodeficiency Diseases 34 42 9 0 85
Macrothrombocytopenia 7 28 32 0 66
Hereditary factor IX deficiency disease 32 27 3 0 62
Usher syndrome 8 35 8 1 52
Stargardt disease 1 7 35 0 2 44
Abnormal bleeding 7 17 19 0 42
Hereditary factor XI deficiency disease 9 19 13 0 41
MYH9-related disorder 12 12 10 0 34
Cholestasis, intrahepatic, of pregnancy 3 5 27 1 0 33
Abnormality of coagulation 6 15 11 0 32
Reduced protein S activity 4 17 11 0 32
Congenital stationary night blindness 5 22 0 0 27
Hermansky-Pudlak syndrome 10 14 3 0 27
Glanzmann thrombasthenia 8 13 5 0 26
Macular dystrophy 4 20 0 1 25
Abnormality of the eye 4 17 3 0 24
Leber congenital amaurosis 8 16 0 0 24
Reduced antithrombin III activity 0 19 5 0 24
Hypofibrinogenemia 7 10 6 0 23
Hereditary factor VIII deficiency disease 10 11 1 0 22
Reduced protein C activity 0 18 3 0 21
Factor VII deficiency 2 15 3 0 20
Epileptic encephalopathy 5 14 0 0 19
Pulmonary venoocclusive disease 2, autosomal recessive 4 14 0 0 18
Factor V deficiency 1 11 5 0 17
Deep venous thrombosis 2 5 9 0 16
Abnormal platelet aggregation 0 11 3 0 14
Cone/cone-rod dystrophy 1 11 0 1 13
Factor X deficiency 0 7 6 0 13
Common variable immunodeficiency 10 1 1 0 12
Gray platelet syndrome 2 9 1 0 12
Von Willebrand disease, recessive form 1 8 3 0 12
Thromboembolism 0 2 8 0 10
von Willebrand disease type 2 3 4 3 0 10
Albinism 1 8 0 0 9
Dystonia 6 2 0 0 8
Intellectual disability 5 3 0 0 8
Spastic paraplegia 4 4 0 0 8
Global developmental delay; Seizures 2 5 0 0 7
Hemolytic anemia 0 7 0 0 7
Nephrotic range proteinuria 5 2 0 0 7
Achromatopsia 1 5 0 0 6
Combined immunodeficiency 5 0 0 0 5
Focal segmental glomerulosclerosis 3 2 0 0 5
Reduced von Willebrand factor activity; Reduced quantity of Von Willebrand factor 2 3 0 0 5
Abnormal platelet function 0 1 3 0 4
Abnormal thrombosis 1 2 1 0 4
Bernard Soulier syndrome 1 3 0 0 4
Deep venous thrombosis; Thromboembolism 0 2 2 0 4
Factor XIII subunit A deficiency 0 4 0 0 4
Familial exudative vitreoretinopathy 1 3 0 0 4
Plasminogen deficiency, type I 0 1 3 0 4
Platelet-type bleeding disorder 18 0 4 0 0 4
Reduced prothrombin activity 0 4 0 0 4
Roifman syndrome 0 4 0 0 4
Storage pool disease of platelets 0 2 2 0 4
Cerebellar ataxia 1 2 0 0 3
Coagulation factor deficiency syndrome 1 2 0 0 3
Combined deficiency of factor V and factor VIII, 1 0 3 0 0 3
Congenital amegakaryocytic thrombocytopenia 0 3 0 0 3
Congenital nephrotic syndrome 1 2 0 0 3
Dyskinesia; Chorea 1 2 0 0 3
Global developmental delay; Diarrhea; Nystagmus; Retinal dystrophy; Severe visual impairment; Developmental regression; Gastrointestinal dysmotility 2 1 0 0 3
Impaired ADP-induced platelet aggregation 0 1 2 0 3
Microcephaly 2 1 0 0 3
Steroid-resistant nephrotic syndrome 0 3 0 0 3
von Willebrand disease type 1 0 3 0 0 3
11q partial monosomy syndrome 0 2 0 0 2
Abnormal bleeding; Thrombocytopenia 0 2 0 0 2
Abnormality of circulating enzyme level; Rhabdomyolysis 2 0 0 0 2
Acute myeloid leukemia 1 1 0 0 2
Anemia 0 2 0 0 2
Autistic disorder of childhood onset; Global developmental delay; Seizures 1 1 0 0 2
Congenital cerebellar hypoplasia; Cerebellar ataxia; Cerebral palsy; Cerebral atrophy; Spasticity; Poor speech 2 0 0 0 2
Congenital cerebellar hypoplasia; Cerebellar ataxia; Muscular dystrophy; Diabetes mellitus 0 2 0 0 2
Congenital cerebellar hypoplasia; Rod-cone dystrophy; Intellectual disability 0 2 0 0 2
Congenital dyserythropoietic anemia, type II 0 2 0 0 2
Congenital lactic acidosis 2 0 0 0 2
Fanconi anemia, complementation group D2 0 2 0 0 2
Focal segmental glomerulosclerosis; Sickled erythrocytes 2 0 0 0 2
Focal segmental glomerulosclerosis; Steroid-resistant nephrotic syndrome 2 0 0 0 2
Global developmental delay; Retinal dystrophy; Severe Myopia 0 2 0 0 2
Global developmental delay; Seizures; Specific learning disability; Cerebellar atrophy; Abnormality of movement 0 2 0 0 2
Global developmental delay; Spasticity; Hypokinesia; Limb dystonia; Abnormality of the cerebral white matter; Hypertyrosinemia 0 2 0 0 2
Glomerulonephritis 2 0 0 0 2
Hermansky-Pudlak syndrome 1 1 1 0 0 2
Homocystinuria; Decreased methionine synthase activity 0 2 0 0 2
Immunodeficiency 2 0 0 0 2
Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 2 0 2
Juvenile myelomonocytic leukemia; Cafe-au-lait spot 2 0 0 0 2
Juvenile myelomonocytic leukemia; Neurofibromas 0 2 0 0 2
Mesangiocapillary glomerulonephritis 0 2 0 0 2
Microcephaly; Epileptic encephalopathy 0 2 0 0 2
Microcephaly; Sparse hair; Abnormality of movement 2 0 0 0 2
Microcephaly; Sparse hair; Intellectual disability, severe; Abnormality of movement 2 0 0 0 2
Myeloproliferative disorder 1 1 0 0 2
Myopia; Retinal dystrophy; Optic disc pallor; Intellectual disability; Joint laxity; Mild hearing impairment 0 2 0 0 2
Neutropenia 1 1 0 0 2
Noonan syndrome 1 1 1 0 0 2
Proteinuria 2 0 0 0 2
Seizures 1 1 0 0 2
Seizures; Focal seizures; Menstrual irregularities; Confusion; Palpitations; Periventricular gray matter heterotopia; Abnormal emotion/affect behavior 0 2 0 0 2
Severe congenital neutropenia 0 2 0 0 2
Spastic ataxia; Sensorimotor neuropathy 2 0 0 0 2
Abnormal dense granules; Abnormal dense granule content 0 1 0 0 1
Abnormal synaptic transmission 1 0 0 0 1
Abnormal thrombosis; Reduced protein S activity 0 1 0 0 1
Abnormality of iron homeostasis 1 0 0 0 1
Abnormality of metabolism/homeostasis; Microcephaly 0 1 0 0 1
Abnormality of movement 0 1 0 0 1
Abnormality of the heme biosynthetic pathway 1 0 0 0 1
Abnormality of the nervous system 0 1 0 0 1
Acute episodes of neuropathic symptoms; Abnormality of pain sensation 0 1 0 0 1
Anemia; Pure red cell aplasia 0 1 0 0 1
Anemia; Reticulocytopenia 0 1 0 0 1
Anemia; Thrombocytopenia 0 1 0 0 1
Autistic disorder of childhood onset; Focal seizures; Microcephaly 0 1 0 0 1
Autistic disorder of childhood onset; Global developmental delay 1 0 0 0 1
Autistic disorder of childhood onset; Global developmental delay; Cone/cone-rod dystrophy 1 0 0 0 1
Autistic disorder of childhood onset; Global developmental delay; Nystagmus; Retinal dystrophy; Rod-cone dystrophy 1 0 0 0 1
Autistic disorder of childhood onset; Intellectual disability; Abnormality of the cerebral white matter 0 1 0 0 1
Autistic disorder of childhood onset; Neurodegeneration; Photosensitive tonic-clonic seizures; Intellectual disability, severe 0 1 0 0 1
Behavioral abnormality 0 1 0 0 1
Bulbar palsy; Recurrent respiratory infections; Epileptic encephalopathy 0 1 0 0 1
Cataract; Constipation; Urinary incontinence; Apraxia; Strabismus; Generalized hypotonia 1 0 0 0 1
Cerebellar ataxia; Bilateral sensorineural hearing impairment; Spastic diplegia; Renal tubular dysfunction; Microcephaly 1 0 0 0 1
Cerebellar ataxia; Dystonia; Global developmental delay 1 0 0 0 1
Cerebellar ataxia; Rod-cone dystrophy; Cerebellar atrophy; Tremor 0 1 0 0 1
Cerebellar atrophy; Toe walking 0 1 0 0 1
Cerebral palsy 0 1 0 0 1
Choreoathetosis 1 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 1
Cone-rod dystrophy and hearing loss 1 1 0 0 0 1
Congenital cerebellar hypoplasia; Cerebellar ataxia; Global developmental delay; Microcephaly; Developmental regression 1 0 0 0 1
Congenital cerebellar hypoplasia; Dystonia; Global developmental delay; Visual impairment; Generalized hypotonia 0 1 0 0 1
Congenital nephrotic syndrome; Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria 0 1 0 0 1
Cortical tubers; Neoplasm 0 1 0 0 1
Cryptorchidism; Corpus callosum agenesis; Lissencephaly 1 0 0 0 1
Deep venous thrombosis; Pulmonary embolism 0 0 1 0 1
Depressivity; Migraine with aura; Stroke 0 1 0 0 1
DiGeorge sequence 1 0 0 0 1
Dilatation; Neurofibromas 1 0 0 0 1
Dysarthria; Generalized dystonia 1 0 0 0 1
Dysarthria; Limb dystonia 0 1 0 0 1
Dysarthria; Poor motor coordination; Generalized dystonia 0 1 0 0 1
Dystonia; Abnormality of metabolism/homeostasis; Dysarthria; Specific learning disability; Myoclonus 1 0 0 0 1
Dystonia; Basal ganglia calcification 1 0 0 0 1
Dystonia; Behavioral abnormality 0 1 0 0 1
Dystonia; Chorea 1 0 0 0 1
Dystonia; Focal seizures; Spasticity; Generalized hypotonia; Neurodegeneration; Severe global developmental delay; Infantile spasms 0 1 0 0 1
Dystonia; Global developmental delay; Apnea; Hyperventilation; Microcephaly; Agitation 0 1 0 0 1
Dystonia; Global developmental delay; Ichthyosis 1 0 0 0 1
Dystonia; Intellectual disability 0 1 0 0 1
Dystonia; Tetraparesis; Oculogyric crisis 0 1 0 0 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 0 1 0 0 1
Ehlers-Danlos syndrome, classic type 0 1 0 0 1
Epileptic encephalopathy, early infantile, 54 0 1 0 0 1
Episodic ataxia; Global developmental delay; Delayed speech and language development 1 0 0 0 1
Facial hypertrichosis; Laryngomalacia; Dystonia; Stridor; Bulbar palsy; Sick sinus syndrome; Progressive neurologic deterioration; Central apnea; Abnormality of muscle fibers; Motor neuron atrophy; Central hypotonia; Abnormal synaptic transmission 0 1 0 0 1
Focal seizures 0 1 0 0 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 1 0 0 1
Global developmental delay; Absent speech; Generalized hypotonia; Gastrostomy tube feeding in infancy; Decreased activity of mitochondrial complex I 0 1 0 0 1
Global developmental delay; Absent speech; Limb dystonia 0 1 0 0 1
Global developmental delay; Behavioral abnormality; Sleep disturbance; Decreased head circumference 0 1 0 0 1
Global developmental delay; Cataract; Ptosis; Cerebellar atrophy; Generalized hypotonia 1 0 0 0 1
Global developmental delay; Cerebral palsy; Visual impairment 0 1 0 0 1
Global developmental delay; Constipation; Abnormal facial shape; Recurrent urinary tract infections; Vesicoureteral reflux; Generalized hypotonia; Growth abnormality 1 0 0 0 1
Global developmental delay; Failure to thrive; Hypothyroidism 0 1 0 0 1
Global developmental delay; Generalized hypotonia 0 1 0 0 1
Global developmental delay; Lactic acidosis; Intrauterine growth retardation 0 1 0 0 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 1 0 0 1
Global developmental delay; Microcephaly; Cerebral hypomyelination; Aplasia/Hypoplasia of the cerebellum; Abnormal basal ganglia MRI signal intensity; Tetraplegia/tetraparesis 1 0 0 0 1
Global developmental delay; Microphthalmia; Microcephaly; Generalized seizures 1 0 0 0 1
Global developmental delay; Muscular hypotonia of the trunk; Stereotypy; Strabismus; Abnormality of the optic nerve 1 0 0 0 1
Global developmental delay; Seizures; Abnormal facial shape; Conductive hearing impairment; Delayed speech and language development 1 0 0 0 1
Global developmental delay; Seizures; Abnormality of movement 0 1 0 0 1
Global developmental delay; Seizures; Decreased head circumference 0 1 0 0 1
Global developmental delay; Seizures; Generalized hypotonia 1 0 0 0 1
Global developmental delay; Seizures; Sleep disturbance; Scoliosis; Recurrent respiratory infections; Gastrostomy tube feeding in infancy 0 1 0 0 1
Global developmental delay; Seizures; Strabismus 1 0 0 0 1
Hearing impairment; Macrothrombocytopenia 0 1 0 0 1
Hermansky Pudlak syndrome 2 0 1 0 0 1
Hermansky-Pudlak syndrome 6 0 1 0 0 1
Hypoxic Ischemic Encephalopathy 0 0 1 0 1
Impaired ristocetin-induced platelet aggregation 0 1 0 0 1
Impaired thermal sensitivity 0 1 0 0 1
Increased mean platelet volume 0 1 0 0 1
Increased mean platelet volume; Thrombocytopenia 0 1 0 0 1
Intellectual disability, moderate 0 1 0 0 1
Intellectual disability, severe 1 0 0 0 1
Intellectual disability; Neurodegeneration; Abnormality of the cerebral white matter; Hyperammonemia 0 1 0 0 1
Iron accumulation in brain 0 1 0 0 1
Ischemic stroke; Migraine; Behavioral abnormality; Cognitive impairment; Depressivity; Migraine with aura; Abnormality of the cerebral white matter 1 0 0 0 1
Juvenile myelomonocytic leukemia 0 1 0 0 1
Leukodystrophy; Visual impairment; Hearing impairment; Stage 5 chronic kidney disease 0 1 0 0 1
Microcytic anemia 0 1 0 0 1
Migraine with aura; Abnormality of the cerebral white matter 0 1 0 0 1
Migraine without aura; Stroke 0 1 0 0 1
Minimal change glomerulonephritis 0 1 0 0 1
Muscular Diseases; Abnormality of metabolism/homeostasis; Abnormality of the respiratory system; Central core regions in muscle fibers 1 0 0 0 1
Muscular Diseases; Pelvic girdle muscle weakness 0 1 0 0 1
Myelofibrosis; Osteoporosis; Thrombocytopenia 0 1 0 0 1
Myelofibrosis; Splenomegaly 0 1 0 0 1
Myoclonic absences 0 1 0 0 1
Optic atrophy; Progressive encephalopathy; Hypsarrhythmia; Peripheral edema; Epileptic encephalopathy 0 1 0 0 1
Pancytopenia 0 1 0 0 1
Paris-Trousseau thrombocytopenia 1 0 0 0 1
Paroxysmal dyskinesia 0 1 0 0 1
Pectus excavatum; Global developmental delay; Brachycephaly; Ptosis; Microcephaly 1 0 0 0 1
Platelet disorder 1 0 0 0 1
Polycythemia 1 0 0 0 1
Polymicrogyria 0 1 0 0 1
Progressive psychomotor deterioration 0 1 0 0 1
Reduced von Willebrand factor activity 0 1 0 0 1
Rod-cone dystrophy; Hypomagnesemia 0 1 0 0 1
Seizures; Abnormal facial shape; Intellectual disability, severe 0 1 0 0 1
Seizures; Cognitive impairment; Personality changes 0 1 0 0 1
Seizures; Dyskinesia 1 0 0 0 1
Seizures; Epileptic encephalopathy; Infantile spasms 0 1 0 0 1
Seizures; Intellectual disability 0 1 0 0 1
Sensorimotor neuropathy 1 0 0 0 1
Sensory neuropathy 0 1 0 0 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 1 0 0 1
Shwachman-Diamond syndrome 1 0 1 0 0 1
Small vessel cerebrovascular disease 0 1 0 0 1
Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria 0 1 0 0 1
Stroke 0 1 0 0 1
Thrombocytopenia; Abnormal platelet aggregation 0 1 0 0 1
Thrombotic stroke 0 0 1 0 1
Thrombotic thrombocytopenic purpura 1 0 0 0 1
beta Thalassemia 1 0 0 0 1

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