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
552 1123 305 22 1 1980

Gene and significance breakdown #

Total genes and gene combinations: 409
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VWF 24 64 46 0 0 131
BMPR2 85 39 0 0 0 124
USH2A 11 47 26 2 0 86
ABCA4 16 58 0 3 0 76
F8 31 31 7 1 0 69
ENG 36 14 5 4 1 60
F11 12 20 14 0 0 46
ACVRL1 12 23 0 3 0 38
MYH9 12 11 14 0 0 37
PROS1 4 17 16 0 0 36
NBEAL2 16 5 14 0 0 35
PROC 1 24 6 0 0 31
SERPINC1 2 22 5 0 0 28
F9 13 13 2 0 0 26
ENG, LOC102723566 16 6 0 3 0 25
ACTN1 3 9 14 0 0 24
EYS 4 18 1 1 0 24
F7 3 19 3 0 0 24
ITGA2B 5 10 9 0 0 24
ABCB4 3 19 0 0 0 22
F5 1 11 10 0 0 21
EIF2AK4 4 15 0 0 0 19
GP1BB, SEPT5-GP1BB 1 12 6 0 0 19
RUNX1 2 14 2 0 0 18
TUBB1 0 7 12 0 0 18
CRB1 3 13 1 0 0 17
NFKB1 11 5 0 0 0 15
RP1 5 10 0 0 0 15
FGG 3 6 5 0 0 14
ANKRD26 3 9 1 0 0 13
CACNA1F 2 11 0 0 0 13
F10 0 7 6 0 0 13
MYO7A 3 10 0 0 0 13
RPGR 3 10 0 0 0 13
GP1BA 1 9 2 0 0 12
ITGB3 2 5 5 0 0 12
RASGRP2 0 12 0 0 0 12
ABCB11 2 8 1 0 0 11
CNGB1 1 9 1 0 0 11
PDE6B 2 8 0 0 0 10
PROM1 6 4 0 0 0 10
FGA 5 4 0 0 0 9
FGB 0 3 7 0 0 9
TBX4 0 8 0 0 0 8
ABCA4, LOC126805793 0 6 1 0 0 7
ADGRV1 1 6 0 0 0 7
HPS1 1 6 0 0 0 7
HPS6 1 3 3 0 0 7
STAT1 1 6 0 0 0 7
TRPM1 0 7 0 0 0 7
GATA1 0 4 2 0 0 6
IKZF1 3 3 0 0 0 6
IQCB1 3 3 0 0 0 6
NOTCH3 1 5 0 0 0 6
PRPF31 0 6 0 0 0 6
PRPH2 1 5 0 0 0 6
RHO 0 6 0 0 0 6
RPGRIP1 0 6 0 0 0 6
SPTA1 0 6 0 0 0 6
STAT3 2 1 3 0 0 6
THBD 0 3 3 0 0 6
AHI1 0 5 0 0 0 5
BTK 1 4 0 0 0 5
CERKL 1 4 0 0 0 5
CLN3 0 5 0 0 0 5
CNGB3 2 3 0 0 0 5
F2 0 5 0 0 0 5
GNAO1 1 4 0 0 0 5
GUCY2D 0 4 1 0 0 5
HPS5 2 2 1 0 0 5
IMPG2 1 4 0 0 0 5
MPL 1 5 0 0 0 5
NMNAT1 0 5 0 0 0 5
SMAD4 2 2 0 1 0 5
STXBP1 3 2 0 0 0 5
VPS13B 0 2 3 0 0 5
C1QTNF5, MFRP 0 4 0 0 0 4
CDHR1 1 3 0 0 0 4
CLASP1, RNU4ATAC 0 4 0 0 0 4
CNGA3 0 4 0 0 0 4
COL18A1 0 4 0 0 0 4
CTLA4 0 3 1 0 0 4
ETV6 0 1 3 0 0 4
F13A1 0 4 0 0 0 4
GDF2 0 0 1 3 0 4
HPS3 1 3 0 0 0 4
HPS6, LOC130004578 3 1 0 0 0 4
KCNQ2 1 3 0 0 0 4
KMT2B 3 1 0 0 0 4
LRBA 1 1 2 0 0 4
MED12L, P2RY12 0 2 2 0 0 4
NF1 2 2 0 0 0 4
NPHS1 1 3 0 0 0 4
NR2E3 0 4 0 0 0 4
PDE6C 0 4 0 0 0 4
PLG 0 1 3 0 0 4
TBXA2R 0 1 3 0 0 4
USH1C 1 3 0 0 0 4
ANKRD11 2 1 0 0 0 3
APOL1 3 0 0 0 0 3
BBS5 0 2 0 1 0 3
CEP290 1 1 1 0 0 3
COL5A1 0 1 2 0 0 3
CRX 0 3 0 0 0 3
CSF3R 0 3 0 0 0 3
CYCS 0 2 1 0 0 3
EFCAB13-DT, ITGB3 0 2 1 0 0 3
FLI1 0 3 0 0 0 3
GP9 2 2 0 0 0 3
GRM6 1 2 0 0 0 3
HGSNAT 0 3 0 0 0 3
KCNV2 1 2 0 0 0 3
LCA5 3 0 0 0 0 3
LOC102724058, SCN1A 2 1 0 0 0 3
LOC122152296, USH2A 0 1 2 0 0 3
LRP5 1 2 0 0 0 3
MCFD2 0 3 0 0 0 3
MERTK 1 2 0 0 0 3
NFKB2 3 0 0 0 0 3
OCA2 0 3 0 0 0 3
PDE6A 1 2 0 0 0 3
PIK3R1 2 1 0 0 0 3
PMM2 2 2 0 0 0 3
PTPN11 2 1 0 0 0 3
RP2 1 2 0 0 0 3
RPE65 1 2 0 0 0 3
SMARCAL1 0 3 0 0 0 3
TYR 0 3 0 0 0 3
WASF1 3 0 0 0 0 3
WT1 0 3 0 0 0 3
ABCC6 1 1 0 0 0 2
ABCG5 0 1 1 0 0 2
ABCG5, DYNC2LI1 0 0 2 0 0 2
ADA2 0 2 0 0 0 2
ALMS1 0 2 0 0 0 2
ARPC1B 2 0 0 0 0 2
ASXL3 0 2 0 0 0 2
ATF6 0 2 0 0 0 2
ATP1A3 0 2 0 0 0 2
BBS1, ZDHHC24 0 2 0 0 0 2
BBS10 1 1 0 0 0 2
BCS1L 2 0 0 0 0 2
BEST1 1 1 0 0 0 2
BMPR2, LOC129935429, LOC129935430, LOC129935431, LOC129935432, LOC129935433, LOC129935434, LOC129935435 2 0 0 0 0 2
BMPR2, LOC129935436 0 2 0 0 0 2
CABP4 0 2 0 0 0 2
CACNA2D4 0 2 0 0 0 2
CASK 0 2 0 0 0 2
CD19 0 2 0 0 0 2
CD27 2 0 0 0 0 2
CFAP410 0 2 0 0 0 2
CLIC6, KCNE1, KCNE2, MRPS6, RCAN1, RUNX1, SLC5A3, SMIM11 0 2 0 0 0 2
CLRN1 1 1 0 0 0 2
CNGA1, LOC101927157 2 0 0 0 0 2
COL18A1, SLC19A1 0 2 0 0 0 2
COL1A1 0 2 0 0 0 2
CP, HPS3 1 1 0 0 0 2
CRB2 0 2 0 0 0 2
DIAPH1 0 2 0 0 0 2
DNMT3A 0 2 0 0 0 2
DOCK8 1 1 0 0 0 2
ETV6, LOC126861452 0 1 1 0 0 2
EYS, PHF3 0 1 1 0 0 2
FAM161A 0 2 0 0 0 2
GNE 0 2 0 0 0 2
GPHN, RDH12, ZFYVE26 1 1 0 0 0 2
GPR143 0 2 0 0 0 2
GUCA1A, GUCA1ANB-GUCA1A 0 2 0 0 0 2
ICOS 0 2 0 0 0 2
IL12RB1 1 1 0 0 0 2
KCTD7 0 2 0 0 0 2
KIAA0586 0 2 0 0 0 2
KLHL7 0 2 0 0 0 2
LOC126860392, RP1 0 2 0 0 0 2
LOC126863137, MYH9 0 1 1 0 0 2
LOC126863256, WDR45 1 1 0 0 0 2
LOC130068202, RP2 0 2 0 0 0 2
LRP2 0 2 0 0 0 2
LURAP1L, TYRP1 1 1 0 0 0 2
MECP2 0 2 0 0 0 2
MTR 0 2 0 0 0 2
MYBPC3 0 2 0 0 0 2
NYX 0 2 0 0 0 2
PANK2 1 1 0 0 0 2
PC 2 0 0 0 0 2
PCARE 2 0 0 0 0 2
PHYH 0 2 0 0 0 2
PI4KA, SERPIND1 0 0 2 0 0 2
PLAT 0 0 2 0 0 2
PURA 0 2 0 0 0 2
RAG1 0 2 0 0 0 2
RAG2 2 0 0 0 0 2
REEP1 1 1 0 0 0 2
SACS 0 2 0 0 0 2
SCN1A 2 0 0 0 0 2
SCN8A 1 1 0 0 0 2
SEC23B 0 2 0 0 0 2
SERPINF2 1 0 1 0 0 2
SETD5 1 1 0 0 0 2
SGSH 2 0 0 0 0 2
SHANK3 0 2 0 0 0 2
SKIC3 0 2 0 0 0 2
SLC13A5 0 2 0 0 0 2
SLC2A1 1 1 0 0 0 2
SLC6A1 0 2 0 0 0 2
SLFN14 0 2 0 0 0 2
SPG7 2 0 0 0 0 2
TBC1D24 0 2 0 0 0 2
THPO 0 0 2 0 0 2
TOPORS 2 0 0 0 0 2
TP53RK 0 2 0 0 0 2
TTC7A 2 0 0 0 0 2
TUBA1A 1 1 0 0 0 2
TUBB4A 1 1 0 0 0 2
WAS 1 0 1 0 0 2
WDR73 2 0 0 0 0 2
AARS2, POLR1C 0 1 0 0 0 1
ABCA4, LOC112590828, LOC126805793, LOC126805794 0 1 0 0 0 1
ABCG4, ACRV1, ADAMTS15, ADAMTS8, APLP2, APOA1, APOA4, APOA5, APOC3, ARCN1, ARHGAP32, ARHGEF12, ATP5MG, BACE1, BARX2, BCL9L, BLID, BSX, BUD13, C1QTNF5, C2CD2L, CADM1, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, 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, NHERF4, NLRX1, NRGN, NXPE2, NXPE4, OAF, OR10G4, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, 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 0 1
ABHD12 1 0 0 0 0 1
ABHD12, LOC126863008 0 1 0 0 0 1
ABI2, ALS2, AOX1, BMPR2, BZW1, C2CD6, CARF, CASP10, CASP8, CD28, CDK15, CFLAR, CLK1, CTLA4, CYP20A1, FAM117B, FLACC1, FZD7, HYCC2, ICA1L, ICOS, KCTD18, MPP4, NBEAL1, NDUFB3, NIF3L1, NOP58, ORC2, PPIL3, RAPH1, SGO2, SPATS2L, STRADB, SUMO1, TMEM237, TRAK2, WDR12 1 0 0 0 0 1
ABI2, BMPR2, CARF, CD28, CTLA4, CYP20A1, FAM117B, FZD7, ICA1L, ICOS, NBEAL1, NOP58, RAPH1, SUMO1, WDR12 1 0 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, BARX2, 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 0 1
ACADVL 1 0 0 0 0 1
ACADVL, DLG4 1 0 0 0 0 1
ACAT2, AFDN, AGPAT4, AIRN, AKAP12, ARID1B, ARMT1, C6orf118, C6orf120, CCDC170, CCR6, CEP43, CLDN20, CNKSR3, DACT2, DLL1, DYNLT1, DYNLT2, ERMARD, ESR1, EZR, FAM120B, FBXO5, FNDC1, FRMD1, GPR31, GTF2H5, IGF2R, IPCEF1, KIF25, LINC02487, LINC02901, 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, TFB1M, THBS2, TIAM2, TMEM181, TMEM242, TTLL2, TULP4, UNC93A, VIP, WDR27, WTAP, ZBTB2, ZDHHC14 1 0 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 0 1
ADAMTS13 1 0 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 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 0 1
AIPL1 1 0 0 0 0 1
AIRE 1 0 0 0 0 1
ALS2 0 1 0 0 0 1
ARFGEF1-DT, CPA6 0 1 0 0 0 1
ARL13B, DHFR2, NSUN3, PROS1, STX19 0 1 0 0 0 1
ARL2BP 0 1 0 0 0 1
ARL6 0 1 0 0 0 1
ARPC1B, LOC113748420, LOC129998866, LOC129998867 1 0 0 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 0 1
ARX 1 0 0 0 0 1
ASXL1 1 0 0 0 0 1
ATL1 1 0 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 0 1
AXDND1, NPHS2 1 0 0 0 0 1
BBS1 0 1 0 0 0 1
BEND2, CDKL5, RAI2, SCML2 0 0 1 0 0 1
BICD2 0 1 0 0 0 1
BLOC1S3 0 0 1 0 0 1
BMPR2, CARF, FAM117B, ICA1L, NBEAL1, WDR12 0 1 0 0 0 1
BMPR2, NOP58 1 0 0 0 0 1
BMPR2, NOP58, SUMO1 0 1 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC107325941, LOC110121042, LOC111429604, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC121725074, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, 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 0 1
C19orf12 1 0 0 0 0 1
C3 0 1 0 0 0 1
CACNA1A 0 1 0 0 0 1
CAMK2B 0 1 0 0 0 1
CARD9 1 0 0 0 0 1
CBR1, RUNX1, SETD4 1 0 0 0 0 1
CC2D1A, LOC129391070 0 1 0 0 0 1
CD40LG 0 0 1 0 0 1
CD79A 1 0 0 0 0 1
CDH3 1 0 0 0 0 1
CDK5RAP2 1 0 0 0 0 1
CEP104 1 0 0 0 0 1
CEP78 1 0 0 0 0 1
CERKL, ITGA4, ITPRID2, LOC108281145, LOC112806063, LOC122861261, LOC122861262, LOC126806440, LOC129388961, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, NEUROD1 0 1 0 0 0 1
CFAP410, LOC130066823 0 1 0 0 0 1
CFH, KCNT2 0 1 0 0 0 1
CHM 0 1 0 0 0 1
CNST, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, SMYD3, TFB2M 0 1 0 0 0 1
COL4A5 0 1 0 0 0 1
CPA6 0 1 0 0 0 1
CSTB 1 0 0 0 0 1
CTLA4, LOC129935461, LOC129935462 0 0 1 0 0 1
CTNNA1 0 1 0 0 0 1
CXCR4 1 0 0 0 0 1
CYP4V2 0 1 0 0 0 1
CYP4V2, F11, KLKB1 0 1 0 0 0 1
CYRIA, DDX1, MYCN, MYCNOS 0 1 0 0 0 1
DHX30 0 1 0 0 0 1
DKC1 0 0 1 0 0 1
DTNBP1 1 0 0 0 0 1
DYRK1A 1 0 0 0 0 1
EBF3 1 0 0 0 0 1
EBF3, GLRX3, MGMT 0 1 0 0 0 1
ELANE 1 0 0 0 0 1
EYS, LOC113175011 0 1 0 0 0 1
EYS, LOC129996683 0 1 0 0 0 1
F13B 1 0 0 0 0 1
FA2H 0 1 0 0 0 1
FANCD2 0 1 0 0 0 1
FANCD2, FANCD2OS 0 1 0 0 0 1
FAS 1 0 0 0 0 1
FHL1 0 1 0 0 0 1
FLNA 0 0 1 0 0 1
FLNC 0 1 0 0 0 1
FOXG1 1 0 0 0 0 1
G6PC3 1 0 0 0 0 1
GABRB3 0 1 0 0 0 1
GFI1B 0 0 1 0 0 1
GJC2 1 0 0 0 0 1
GNAL 0 1 0 0 0 1
GNAT2 0 1 0 0 0 1
GNB1 0 1 0 0 0 1
GP1BB, SEPT5-GP1BB, SEPTIN5 1 0 1 0 0 1
GP6 0 0 1 0 0 1
GPI 0 1 0 0 0 1
GPR179 1 0 0 0 0 1
GRIA3 0 1 0 0 0 1
HACE1 1 0 0 0 0 1
HAX1 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HMBS 1 0 0 0 0 1
HPD 0 1 0 0 0 1
HPS1, MIR4685 1 1 0 0 0 1
HTRA1 0 1 0 0 0 1
IFNGR1 1 0 0 0 0 1
IFT140, LOC105371046 0 1 0 0 0 1
IMPG1 0 1 0 0 0 1
INSL6, JAK2 1 1 0 0 0 1
IRF8 1 0 0 0 0 1
ITGA2B, LOC130060983 1 0 0 0 0 1
ITGB3, LOC130061044 0 1 0 0 0 1
ITGB3, LOC130061045 0 1 0 0 0 1
KCNB1 0 1 0 0 0 1
KCNH1 0 1 0 0 0 1
KCNJ10 1 0 0 0 0 1
KCNK3 0 1 0 0 0 1
KDM5C 0 1 0 0 0 1
KIF1C 1 0 0 0 0 1
KRAS 0 1 0 0 0 1
LMAN1 0 1 0 0 0 1
LMX1B 0 1 0 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 0 1
LOC112806037, LOC129934573, MERTK 0 1 0 0 0 1
LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 0 1 0 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 0 0 1
LOC130055497, NFKBIA 1 0 0 0 0 1
LOC130057872, RLBP1 0 1 0 0 0 1
MAGT1 0 1 0 0 0 1
MANBA, NFKB1 1 0 0 0 0 1
MECOM 0 1 0 0 0 1
MEF2C 0 1 0 0 0 1
MFSD8 0 1 0 0 0 1
MT-ATP6 0 1 0 0 0 1
MT-TI 0 1 0 0 0 1
MTM1 1 0 0 0 0 1
MTOR 1 0 0 0 0 1
MTRFR 0 1 0 0 0 1
NGLY1 0 0 1 0 0 1
NIPA1 1 0 0 0 0 1
NLRC4, SLC30A6, SPAST 0 1 0 0 0 1
NPHS2 1 0 0 0 0 1
NPM1 1 0 0 0 0 1
NRAS 0 1 0 0 0 1
NUP93 0 1 0 0 0 1
PAX2 0 1 0 0 0 1
PCDH15 0 1 0 0 0 1
PDE10A 0 1 0 0 0 1
PIGT 0 1 0 0 0 1
PIK3CD 1 0 0 0 0 1
PKLR 0 1 0 0 0 1
PLA2G6 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 1 0 0 0 0 1
PRPF8 0 1 0 0 0 1
RBP3 0 1 0 0 0 1
RBP4 0 1 0 0 0 1
RFXANK 0 1 0 0 0 1
RGR 1 0 0 0 0 1
RHOBTB2 1 0 0 0 0 1
RLBP1 0 1 0 0 0 1
RPL11 0 1 0 0 0 1
RPS26 0 1 0 0 0 1
SATB2 0 1 0 0 0 1
SBDS 0 1 0 0 0 1
SCN10A 0 1 0 0 0 1
SCN11A 0 1 0 0 0 1
SCN1A, SCN9A 0 1 0 0 0 1
SCN2A 0 1 0 0 0 1
SERPINE1 0 1 0 0 0 1
SIL1 1 0 0 0 0 1
SLC18A2 0 1 0 0 0 1
SLC33A1 0 1 0 0 0 1
SLC9A6 0 1 0 0 0 1
SNRNP200 0 1 0 0 0 1
SNX14 0 1 0 0 0 1
SPAST 1 0 0 0 0 1
SPR 1 0 0 0 0 1
SPTLC1 1 0 0 0 0 1
SRC 0 1 0 0 0 1
SRCAP 0 1 0 0 0 1
SRD5A3 1 0 0 0 0 1
STK4 1 0 0 0 0 1
SYNGAP1 0 1 0 0 0 1
TANGO2 1 0 0 0 0 1
TCF4 1 0 0 0 0 1
TERT 1 0 0 0 0 1
THAP1 0 1 0 0 0 1
TINF2 0 0 1 0 0 1
TMPRSS6 0 1 0 0 0 1
TRIO 0 1 0 0 0 1
TRIP12 0 1 0 0 0 1
TRPC6 0 1 0 0 0 1
TRPM6 0 1 0 0 0 1
TSC2 0 1 0 0 0 1
TSPAN12 0 1 0 0 0 1
WDR81 0 1 0 0 0 1
ZAP70 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 242
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Retinitis pigmentosa 38 152 22 2 0 214
Pulmonary arterial hypertension 91 59 0 0 0 149
Retinal dystrophy 28 84 6 0 0 118
Thrombocytopenia 11 51 31 0 0 93
Hereditary von Willebrand disease 20 39 33 0 0 92
Inherited Immunodeficiency Diseases 34 42 9 0 0 85
Telangiectasia, hereditary hemorrhagic, type 1 52 18 5 7 1 83
Macrothrombocytopenia 7 28 32 0 0 67
Hereditary factor IX deficiency disease 32 27 3 0 0 62
Usher syndrome 8 36 8 1 0 53
Severe early-childhood-onset retinal dystrophy 7 35 0 2 0 44
Abnormal bleeding 7 17 19 0 0 43
Hereditary factor XI deficiency disease 9 19 13 0 0 41
Gray platelet syndrome 16 5 13 0 0 34
MYH9-related disorder 12 12 10 0 0 34
Cholestasis, intrahepatic, of pregnancy, 3 5 27 1 0 0 33
Abnormality of coagulation 6 15 11 0 0 32
Protein S deficiency disease 4 17 11 0 0 32
Telangiectasia, hereditary hemorrhagic, type 2 10 17 0 3 0 30
Congenital stationary night blindness 5 22 0 0 0 27
Hermansky-Pudlak syndrome 10 14 3 0 0 27
Glanzmann thrombasthenia 7 13 5 0 0 25
Hereditary antithrombin deficiency 0 20 5 0 0 25
Macular dystrophy 4 20 0 1 0 25
Abnormality of the eye 4 17 3 0 0 24
Leber congenital amaurosis 8 16 0 0 0 24
Hereditary factor VIII deficiency disease 10 11 1 1 0 23
Hypofibrinogenemia 7 10 6 0 0 23
Reduced protein C activity 0 18 3 0 0 21
Factor VII deficiency 2 15 3 0 0 20
Epileptic encephalopathy 5 14 0 0 0 19
Familial pulmonary capillary hemangiomatosis 4 14 0 0 0 18
Factor V deficiency 1 11 5 0 0 17
Deep venous thrombosis 2 5 9 0 0 16
Abnormal platelet aggregation 0 11 3 0 0 14
Cone dystrophy 1 11 0 1 0 13
Hereditary factor X deficiency disease 0 7 6 0 0 13
Common variable immunodeficiency 10 1 1 0 0 12
von Willebrand disease type 3 1 8 3 0 0 12
Thromboembolism 0 2 8 0 0 10
von Willebrand disease type 2 3 4 3 0 0 10
Albinism 1 8 0 0 0 9
Dystonic disorder 6 2 0 0 0 8
Intellectual disability 5 3 0 0 0 8
Spastic paraplegia 4 4 0 0 0 8
Global developmental delay; Seizure 2 5 0 0 0 7
Hemolytic anemia 0 7 0 0 0 7
Nephrotic range proteinuria 5 2 0 0 0 7
Achromatopsia 1 5 0 0 0 6
Asymmetric septal hypertrophy 0 5 0 0 0 5
Combined immunodeficiency 5 0 0 0 0 5
Focal segmental glomerulosclerosis 3 2 0 0 0 5
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2 2 0 1 0 5
Reduced von Willebrand factor activity; Reduced quantity of Von Willebrand factor 2 3 0 0 0 5
Abnormal platelet function 0 1 3 0 0 4
Abnormal thrombosis 1 2 1 0 0 4
Bernard Soulier syndrome 1 3 0 0 0 4
Deep venous thrombosis; Thromboembolism 0 2 2 0 0 4
Factor XIII, A subunit, deficiency of 0 4 0 0 0 4
Familial exudative vitreoretinopathy 1 3 0 0 0 4
Plasminogen deficiency, type I 0 1 3 0 0 4
Platelet-type bleeding disorder 18 0 4 0 0 0 4
Prolonged prothrombin time 0 4 0 0 0 4
Roifman syndrome 0 4 0 0 0 4
Storage pool disease of platelets 0 2 2 0 0 4
Telangiectasia, hereditary hemorrhagic, type 5 0 0 1 3 0 4
Cerebellar ataxia 1 2 0 0 0 3
Coagulation factor deficiency syndrome 1 2 0 0 0 3
Congenital amegakaryocytic thrombocytopenia 0 3 0 0 0 3
Congenital nephrotic syndrome 1 2 0 0 0 3
Dyskinesia; Chorea 1 2 0 0 0 3
Factor V and factor VIII, combined deficiency of, type 1 0 3 0 0 0 3
Global developmental delay; Diarrhea; Nystagmus; Retinal dystrophy; Severely reduced visual acuity; Developmental regression; Gastrointestinal dysmotility 2 1 0 0 0 3
Impaired ADP-induced platelet aggregation 0 1 2 0 0 3
Microcephaly 2 1 0 0 0 3
Steroid-resistant nephrotic syndrome 0 3 0 0 0 3
von Willebrand disease type 1 0 3 0 0 0 3
11q partial monosomy syndrome 0 2 0 0 0 2
Abnormal bleeding; Thrombocytopenia 0 2 0 0 0 2
Abnormal circulating enzyme concentration; Rhabdomyolysis 2 0 0 0 0 2
Acute myeloid leukemia 1 1 0 0 0 2
Anemia 0 2 0 0 0 2
Autism; Global developmental delay; Seizure 1 1 0 0 0 2
Congenital cerebellar hypoplasia; Cerebellar ataxia; Cerebral palsy; Cerebral atrophy; Spasticity; Poor speech 2 0 0 0 0 2
Congenital cerebellar hypoplasia; Cerebellar ataxia; Muscular dystrophy; Diabetes mellitus 0 2 0 0 0 2
Congenital cerebellar hypoplasia; Rod-cone dystrophy; Intellectual disability 0 2 0 0 0 2
Congenital dyserythropoietic anemia, type II 0 2 0 0 0 2
Congenital lactic acidosis 2 0 0 0 0 2
Fanconi anemia complementation group D2 0 2 0 0 0 2
Focal segmental glomerulosclerosis; Sickled erythrocytes 2 0 0 0 0 2
Focal segmental glomerulosclerosis; Steroid-resistant nephrotic syndrome 2 0 0 0 0 2
Global developmental delay; Retinal dystrophy; High myopia 0 2 0 0 0 2
Global developmental delay; Seizure; Specific learning disability; Cerebellar atrophy; Movement disorder 0 2 0 0 0 2
Global developmental delay; Spasticity; Hypokinesia; Limb dystonia; Abnormal cerebral white matter morphology; Hypertyrosinemia 0 2 0 0 0 2
Glomerulonephritis 2 0 0 0 0 2
Hermansky-Pudlak syndrome 1 1 1 0 0 0 2
Homocystinuria; Decreased methionine synthase activity 0 2 0 0 0 2
Immunodeficiency 2 0 0 0 0 2
Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 2 0 0 2
Juvenile myelomonocytic leukemia; Cafe-au-lait spot 2 0 0 0 0 2
Juvenile myelomonocytic leukemia; Neurofibroma 0 2 0 0 0 2
Mesangiocapillary glomerulonephritis 0 2 0 0 0 2
Microcephaly; Epileptic encephalopathy 0 2 0 0 0 2
Microcephaly; Sparse hair; Intellectual disability, severe; Movement disorder 2 0 0 0 0 2
Microcephaly; Sparse hair; Movement disorder 2 0 0 0 0 2
Myeloproliferative disorder 1 1 0 0 0 2
Myopia; Retinal dystrophy; Optic disc pallor; Intellectual disability; Joint laxity; Mild hearing impairment 0 2 0 0 0 2
Neutropenia 1 1 0 0 0 2
Noonan syndrome 1 1 1 0 0 0 2
Proteinuria 2 0 0 0 0 2
Seizure 1 1 0 0 0 2
Seizure; Focal-onset seizure; Irregular menstruation; Confusion; Palpitations; Periventricular heterotopia; Abnormal emotion 0 2 0 0 0 2
Severe congenital neutropenia 0 2 0 0 0 2
Spastic ataxia; Sensorimotor neuropathy 2 0 0 0 0 2
Abnormal circulating porphyrin concentration 1 0 0 0 0 1
Abnormal dense granules; Abnormal dense granule content 0 1 0 0 0 1
Abnormal synaptic transmission 1 0 0 0 0 1
Abnormal thrombosis; Protein S deficiency disease 0 1 0 0 0 1
Abnormality of iron homeostasis 1 0 0 0 0 1
Abnormality of metabolism/homeostasis; Microcephaly 0 1 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 1
Acute episodes of neuropathic symptoms; Abnormality of pain sensation 0 1 0 0 0 1
Anemia; Pure red-cell aplasia 0 1 0 0 0 1
Anemia; Reticulocytopenia 0 1 0 0 0 1
Anemia; Thrombocytopenia 0 1 0 0 0 1
Atypical behavior 0 1 0 0 0 1
Autism; Focal-onset seizure; Microcephaly 0 1 0 0 0 1
Autism; Global developmental delay 1 0 0 0 0 1
Autism; Global developmental delay; Cone dystrophy 1 0 0 0 0 1
Autism; Global developmental delay; Nystagmus; Retinal dystrophy; Rod-cone dystrophy 1 0 0 0 0 1
Autism; Intellectual disability; Abnormal cerebral white matter morphology 0 1 0 0 0 1
Autism; Neurodegeneration; Photosensitive tonic-clonic seizure; Intellectual disability, severe 0 1 0 0 0 1
Bulbar palsy; Recurrent respiratory infections; Epileptic encephalopathy 0 1 0 0 0 1
Cataract; Constipation; Urinary incontinence; Apraxia; Strabismus; Generalized hypotonia 1 0 0 0 0 1
Cerebellar ataxia; Bilateral sensorineural hearing impairment; Spastic diplegia; Renal tubular dysfunction; Microcephaly 1 0 0 0 0 1
Cerebellar ataxia; Dystonic disorder; Global developmental delay 1 0 0 0 0 1
Cerebellar ataxia; Rod-cone dystrophy; Cerebellar atrophy; Tremor 0 1 0 0 0 1
Cerebellar atrophy; Tip-toe gait 0 1 0 0 0 1
Cerebral palsy 0 1 0 0 0 1
Choreoathetosis 1 0 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 0 1
Cone-rod dystrophy and hearing loss 1 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Cerebellar ataxia; Global developmental delay; Microcephaly; Developmental regression 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Dystonic disorder; Global developmental delay; Visual impairment; Generalized hypotonia 0 1 0 0 0 1
Congenital nephrotic syndrome; Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria 0 1 0 0 0 1
Cortical tubers; Neoplasm 0 1 0 0 0 1
Cryptorchidism; Corpus callosum, agenesis of; Lissencephaly 1 0 0 0 0 1
Deep venous thrombosis; Pulmonary embolism 0 0 1 0 0 1
Depression; Migraine with aura; Stroke disorder 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 54 0 1 0 0 0 1
DiGeorge syndrome 1 0 0 0 0 1
Dysarthria; Generalized dystonia 1 0 0 0 0 1
Dysarthria; Limb dystonia 0 1 0 0 0 1
Dysarthria; Poor motor coordination; Generalized dystonia 0 1 0 0 0 1
Dystonic disorder; Abnormality of metabolism/homeostasis; Dysarthria; Specific learning disability; Myoclonus 1 0 0 0 0 1
Dystonic disorder; Atypical behavior 0 1 0 0 0 1
Dystonic disorder; Basal ganglia calcification 1 0 0 0 0 1
Dystonic disorder; Chorea 1 0 0 0 0 1
Dystonic disorder; Focal-onset seizure; Spasticity; Generalized hypotonia; Neurodegeneration; Severe global developmental delay; Infantile spasms 0 1 0 0 0 1
Dystonic disorder; Global developmental delay; Apnea; Hyperventilation; Microcephaly; Agitation 0 1 0 0 0 1
Dystonic disorder; Global developmental delay; Ichthyosis 1 0 0 0 0 1
Dystonic disorder; Intellectual disability 0 1 0 0 0 1
Dystonic disorder; Tetraparesis; Oculogyric crisis 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 1 0 0 0 1
Ehlers-danlos syndrome, arthrochalasia type, 2 0 1 0 0 0 1
Facial hypertrichosis; Congenital laryngomalacia; Dystonic disorder; Stridor; Bulbar palsy; Sick sinus syndrome; Progressive neurologic deterioration; Central apnea; Abnormal muscle fiber morphology; Motor neuron atrophy; Central hypotonia; Abnormal synaptic transmission 0 1 0 0 0 1
Focal-onset seizure 0 1 0 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 0 1
Global developmental delay; Absent speech; Generalized hypotonia; Gastrostomy tube feeding in infancy; Decreased activity of mitochondrial complex I 0 1 0 0 0 1
Global developmental delay; Absent speech; Limb dystonia 0 1 0 0 0 1
Global developmental delay; Atypical behavior; Sleep abnormality; Decreased head circumference 0 1 0 0 0 1
Global developmental delay; Axial hypotonia; Stereotypic movement disorder; Strabismus; Abnormal optic nerve morphology 1 0 0 0 0 1
Global developmental delay; Cataract; Ptosis; Cerebellar atrophy; Generalized hypotonia 1 0 0 0 0 1
Global developmental delay; Cerebral palsy; Visual impairment 0 1 0 0 0 1
Global developmental delay; Constipation; Abnormal facial shape; Recurrent urinary tract infections; Vesicoureteral reflux; Generalized hypotonia; Growth abnormality 1 0 0 0 0 1
Global developmental delay; Failure to thrive; Hypothyroidism 0 1 0 0 0 1
Global developmental delay; Fetal growth restriction; Lactic acidosis 0 0 1 0 0 1
Global developmental delay; Generalized hypotonia 0 1 0 0 0 1
Global developmental delay; Microcephaly; Abnormal cerebellum morphology 0 1 0 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 0 1
Global developmental delay; Microphthalmia; Microcephaly; Generalized-onset seizure 1 0 0 0 0 1
Global developmental delay; Seizure; Abnormal facial shape; Conductive hearing impairment; Delayed speech and language development 1 0 0 0 0 1
Global developmental delay; Seizure; Decreased head circumference 0 1 0 0 0 1
Global developmental delay; Seizure; Generalized hypotonia 1 0 0 0 0 1
Global developmental delay; Seizure; Movement disorder 0 1 0 0 0 1
Global developmental delay; Seizure; Sleep abnormality; Scoliosis; Recurrent respiratory infections; Gastrostomy tube feeding in infancy 0 1 0 0 0 1
Global developmental delay; Seizure; Strabismus 1 0 0 0 0 1
Hearing impairment; Macrothrombocytopenia 0 1 0 0 0 1
Hereditary episodic ataxia; Global developmental delay; Delayed speech and language development 1 0 0 0 0 1
Hermansky-Pudlak syndrome 2 0 1 0 0 0 1
Hermansky-Pudlak syndrome 6 0 1 0 0 0 1
Hypoxic Ischemic Encephalopathy 0 0 1 0 0 1
Impaired ristocetin-induced platelet aggregation 0 1 0 0 0 1
Impaired temperature sensation 0 1 0 0 0 1
Increased mean platelet volume 0 1 0 0 0 1
Increased mean platelet volume; Thrombocytopenia 0 1 0 0 0 1
Inherited bleeding disorder, platelet-type 1 0 0 0 0 1
Intellectual disability, moderate 0 1 0 0 0 1
Intellectual disability, severe 1 0 0 0 0 1
Intellectual disability; Neurodegeneration; Abnormal cerebral white matter morphology; Hyperammonemia 0 1 0 0 0 1
Iron accumulation in brain 0 1 0 0 0 1
Ischemic stroke; Migraine; Atypical behavior; Cognitive impairment; Depression; Migraine with aura; Abnormal cerebral white matter morphology 1 0 0 0 0 1
Juvenile myelomonocytic leukemia 0 1 0 0 0 1
Leukodystrophy; Visual impairment; Hearing impairment; Stage 5 chronic kidney disease 0 1 0 0 0 1
Lipoid nephrosis 0 1 0 0 0 1
Microcytic anemia 0 1 0 0 0 1
Migraine with aura; Abnormal cerebral white matter morphology 0 1 0 0 0 1
Migraine without aura; Stroke disorder 0 1 0 0 0 1
Movement disorder 0 1 0 0 0 1
Myoclonic absence seizure 0 1 0 0 0 1
Myopathy; Abnormality of metabolism/homeostasis; Abnormality of the respiratory system; Central core regions in muscle fibers 1 0 0 0 0 1
Myopathy; Pelvic girdle muscle weakness 0 1 0 0 0 1
Neurofibroma; Vascular dilatation 1 0 0 0 0 1
Optic atrophy; Progressive encephalopathy; Hypsarrhythmia; Peripheral edema; Epileptic encephalopathy 0 1 0 0 0 1
Pancytopenia 0 1 0 0 0 1
Paris-Trousseau thrombocytopenia 1 0 0 0 0 1
Paroxysmal dyskinesia 0 1 0 0 0 1
Pectus excavatum; Global developmental delay; Brachycephaly; Ptosis; Microcephaly 1 0 0 0 0 1
Polycythemia 1 0 0 0 0 1
Polymicrogyria 0 1 0 0 0 1
Primary dilated cardiomyopathy; Asymmetric septal hypertrophy 0 1 0 0 0 1
Primary myelofibrosis; Osteoporosis; Thrombocytopenia 0 1 0 0 0 1
Primary myelofibrosis; Splenomegaly 0 1 0 0 0 1
Progressive psychomotor deterioration 0 1 0 0 0 1
Reduced von Willebrand factor activity 0 1 0 0 0 1
Rod-cone dystrophy; Hypomagnesemia 0 1 0 0 0 1
Seizure; Abnormal facial shape; Intellectual disability, severe 0 1 0 0 0 1
Seizure; Cognitive impairment; Personality changes 0 1 0 0 0 1
Seizure; Dyskinesia 1 0 0 0 0 1
Seizure; Epileptic encephalopathy; Infantile spasms 0 1 0 0 0 1
Seizure; Intellectual disability 0 1 0 0 0 1
Sensorimotor neuropathy 1 0 0 0 0 1
Sensory neuropathy 0 1 0 0 0 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 1 0 0 0 1
Shwachman-Diamond syndrome 1 0 1 0 0 0 1
Small vessel cerebrovascular disease 0 1 0 0 0 1
Steroid-resistant nephrotic syndrome; Nephrotic range proteinuria 0 1 0 0 0 1
Stroke disorder 0 1 0 0 0 1
Thrombocytopenia; Abnormal platelet aggregation 0 1 0 0 0 1
Thrombotic stroke 0 0 1 0 0 1
Thrombotic thrombocytopenic purpura 1 0 0 0 0 1
beta Thalassemia 1 0 0 0 0 1

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