ClinVar Miner

Variants from Clinical Genetics Laboratory, Skane University Hospital Lund

Location: Sweden  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
1441 898 1657 19 6 4020

Gene and significance breakdown #

Total genes and gene combinations: 1457
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 97 8 24 0 1 130
BRCA1 77 11 6 0 0 94
TTN 16 27 25 0 0 68
MYBPC3 28 11 24 0 0 63
FBN1 17 24 10 0 0 51
LDLR 25 13 2 0 0 40
MSH6 25 3 12 0 0 40
SCN5A 11 4 22 0 0 37
PALB2 10 10 16 0 0 36
PKD1 15 12 9 0 0 36
NF1 20 10 5 0 0 35
MYH7 11 9 12 0 0 32
MSH2 16 8 6 0 0 30
CFTR 12 4 8 2 2 28
CHEK2 13 5 8 0 0 26
KCNQ1 14 9 3 0 0 26
MLH1 13 4 8 0 1 26
PMS2 12 4 9 0 0 25
APC 14 2 7 0 0 23
ATM 12 5 4 1 0 22
BRCA1, LOC126862571 17 1 4 0 0 22
DMD 5 4 12 0 0 21
FLNC 1 3 17 0 0 21
PTPN11 16 1 3 0 0 20
ATM, C11orf65 10 6 2 1 0 19
LMNA 8 4 5 0 0 17
MYH6 0 0 17 0 0 17
TP53 10 6 1 0 0 17
POLE 0 0 14 1 0 15
RYR2 1 1 13 0 0 15
MYO7A 2 3 9 0 0 14
COL4A5 4 7 2 0 0 13
LZTR1 2 3 8 0 0 13
PTEN 7 3 3 0 0 13
ACVRL1 10 2 0 0 0 12
COL1A1 5 1 5 1 0 12
COL1A2 5 4 3 0 0 12
COL3A1 1 6 5 0 0 12
DSP 1 8 3 0 0 12
KCNH2 4 3 5 0 0 12
MUTYH 9 1 2 0 0 12
NOTCH3 4 2 6 0 0 12
PKHD1 5 3 4 0 0 12
SPAST 2 6 4 0 0 12
USH2A 6 1 5 0 0 12
CASR 1 6 4 0 0 11
CDH1 7 0 4 0 0 11
F8 7 3 1 0 0 11
PKP2 6 2 3 0 0 11
RET 7 3 1 0 0 11
DNAH11 5 2 3 0 0 10
DSG2 0 3 7 0 0 10
FLCN 6 4 0 0 0 10
ANKRD11 6 3 0 0 0 9
CACNA1C 1 2 6 0 0 9
CDH23 0 1 7 1 0 9
CDKN2A 4 3 2 0 0 9
CHD7 5 1 3 0 0 9
DNAH5 5 1 3 0 0 9
DYNC1H1 0 2 7 0 0 9
FGFR3 7 0 2 0 0 9
GJB2 8 0 1 0 0 9
GLA, RPL36A-HNRNPH2 4 1 3 1 0 9
MT-ATP6 1 1 7 0 0 9
RYR1 4 1 4 0 0 9
SMAD3 2 3 4 0 0 9
ABCC6 3 2 3 0 0 8
BRIP1 5 1 2 0 0 8
CACNA1A 4 2 2 0 0 8
COL2A1 2 3 3 0 0 8
ENG 4 4 0 0 0 8
FBN2 1 1 6 0 0 8
G6PD 7 1 0 0 0 8
KCNQ2 4 3 1 0 0 8
MEN1 4 2 2 0 0 8
NEXN 0 2 6 0 0 8
SDHB 5 1 2 0 0 8
SETD5 6 1 1 0 0 8
TMPRSS3 2 4 2 0 0 8
ALPL 5 2 0 0 0 7
AR 4 2 1 0 0 7
BAG3 0 4 3 0 0 7
BARD1 5 1 1 0 0 7
COL4A3, MFF-DT 2 3 2 0 0 7
COL5A1 1 1 5 0 0 7
COL6A3 1 2 4 0 0 7
FH 4 2 1 0 0 7
JUP 0 0 7 0 0 7
KMT2D 6 0 1 0 0 7
NOTCH1 0 0 7 0 0 7
POLD1 0 0 7 0 0 7
SLC12A3 3 3 1 0 0 7
TNNI3 1 3 3 0 0 7
TNNT2 3 1 3 0 0 7
VCL 0 0 7 0 0 7
ADNP 2 1 3 0 0 6
ARID1B 2 2 2 0 0 6
BAP1 2 1 2 1 0 6
CAPN3 4 1 1 0 0 6
CFTR, LOC111674472 3 1 1 0 1 6
CREBBP 3 1 2 0 0 6
DMXL2 0 0 6 0 0 6
EP300 2 3 1 0 0 6
FLNA 1 1 4 0 0 6
MECP2 2 1 3 0 0 6
MT-ND1 1 0 5 0 0 6
MYO15A 1 3 2 0 0 6
MYPN 0 1 5 0 0 6
OFD1 3 1 2 0 0 6
PKD2 4 1 1 0 0 6
PRKAG2 1 0 5 0 0 6
SH3TC2 2 1 3 0 0 6
SLC26A4 3 3 0 0 0 6
SPG7 5 0 1 0 0 6
TNXB 0 2 4 0 0 6
TPM1 2 2 2 0 0 6
TSC1 3 2 1 0 0 6
ACADVL 3 1 1 0 0 5
ACTN2 0 0 5 0 0 5
ANK2 0 2 2 1 0 5
ATRX 1 2 2 0 0 5
CD36 3 0 2 0 0 5
CLCN1 3 2 0 0 0 5
COL4A1 1 2 2 0 0 5
CYP21A2, LOC106780800 5 0 0 0 0 5
DCTN1 0 0 5 0 0 5
DNMT3A 1 4 0 0 0 5
EFTUD2 4 1 0 0 0 5
EPHB4 2 1 2 0 0 5
HBB, LOC106099062, LOC107133510 4 1 0 0 0 5
ITPR1 0 1 4 0 0 5
KAT6A 1 0 4 0 0 5
KIF1A 1 1 3 0 0 5
KIF5A 0 3 2 0 0 5
KMT2A 2 2 1 0 0 5
LDB3 0 0 5 0 0 5
LOC126861898, MYH7 2 2 1 0 0 5
LRP5 0 1 4 0 0 5
MACF1 0 0 5 0 0 5
MSTO1 1 1 3 0 0 5
MT-CO1 0 0 5 0 0 5
MYO6 0 1 4 0 0 5
OPA1 3 0 2 0 0 5
OTOF 2 1 1 0 1 5
PLEC 0 0 5 0 0 5
POLR3B 1 2 2 0 0 5
PRDM16 0 0 5 0 0 5
RBM20 1 1 3 0 0 5
SDHA 1 1 3 0 0 5
SYNE1 1 1 3 0 0 5
TBK1 0 3 2 0 0 5
TRIO 2 1 2 0 0 5
TSC2 3 1 1 0 0 5
USP9X 0 2 3 0 0 5
ALPK3 0 3 1 0 0 4
ARSA 3 1 0 0 0 4
ATP2A1 0 0 4 0 0 4
CACNA1G 0 0 4 0 0 4
CCDST, FLG 2 1 1 0 0 4
CHD2 2 1 1 0 0 4
CHD8 1 0 3 0 0 4
COL12A1 0 1 3 0 0 4
COL5A2 0 0 4 0 0 4
COL7A1 2 1 1 0 0 4
CTNNA3 0 0 4 0 0 4
CTNNB1 2 2 0 0 0 4
DDX3X 4 0 0 0 0 4
DSC2 0 0 4 0 0 4
ELN 1 2 1 0 0 4
ENG, LOC102723566 2 1 1 0 0 4
F9 3 0 1 0 0 4
FBLN5 0 0 4 0 0 4
FGFR1 0 1 3 0 0 4
FHOD3 0 0 4 0 0 4
GAA 1 1 2 0 0 4
GH-LCR, SCN4A 3 0 1 0 0 4
GRN 2 1 1 0 0 4
HTRA1 3 0 1 0 0 4
IGF1R 0 1 3 0 0 4
KRIT1 2 2 0 0 0 4
LOC126861897, MHRT, MYH7 0 1 3 0 0 4
LOC126862264, MEFV 4 0 0 0 0 4
MEFV 2 0 2 0 0 4
MT-RNR2 0 0 4 0 0 4
MVP-DT, PRRT2 3 1 0 0 0 4
MYL2 2 0 2 0 0 4
MYL3 0 0 4 0 0 4
NALCN 0 1 3 0 0 4
NGLY1 3 0 1 0 0 4
NR2F1 1 3 0 0 0 4
OPHN1 0 1 3 0 0 4
PCDH15 0 1 3 0 0 4
POLG 3 0 1 0 0 4
POLR2F, SOX10 1 1 2 0 0 4
RNU12 0 4 0 0 0 4
RPS6KA3 3 1 0 0 0 4
SACS 1 2 1 0 0 4
SCN1A 3 1 0 0 0 4
SCN8A 1 2 1 0 0 4
SDHC 1 2 1 0 0 4
SETD2 1 1 2 0 0 4
SHANK3 2 0 2 0 0 4
SHOX 2 2 0 0 0 4
SOS1 2 0 2 0 0 4
SOX11 1 2 1 0 0 4
STK11 1 2 1 0 0 4
STXBP1 1 2 1 0 0 4
TBCEL-TECTA, TECTA 0 1 3 0 0 4
TGFBR2 2 0 2 0 0 4
THRB 3 1 0 0 0 4
TMEM67 1 3 0 0 0 4
TPP1 2 1 1 0 0 4
TRPM4 0 0 4 0 0 4
TUBB4A 1 1 2 0 0 4
VWF 0 3 1 0 0 4
ZEB2 3 0 1 0 0 4
ABCC9 0 1 2 0 0 3
ACAN 0 3 0 0 0 3
ACTB 1 1 1 0 0 3
ACTC1, GJD2-DT 1 0 2 0 0 3
ADAMTSL4 0 1 2 0 0 3
ADGRV1 0 0 3 0 0 3
AGRN 0 1 2 0 0 3
AIRE 3 0 0 0 0 3
ALOX12B 2 1 0 0 0 3
ASXL1 0 0 3 0 0 3
ASXL3 2 0 1 0 0 3
ATP1A1 0 1 2 0 0 3
ATP1A2 1 0 2 0 0 3
ATP1A3 2 0 1 0 0 3
AVPR2 1 2 0 0 0 3
BBS9 2 1 0 0 0 3
BGN 0 0 3 0 0 3
BMPR1A 0 3 0 0 0 3
BRAF 2 0 1 0 0 3
BRWD3 0 2 1 0 0 3
CACNA1D 0 1 2 0 0 3
CBL 1 0 2 0 0 3
CCDC40 1 2 0 0 0 3
CCNH, RASA1 2 1 0 0 0 3
CDH2 0 0 3 0 0 3
CDK13 0 1 2 0 0 3
CDKL5 2 0 1 0 0 3
CDKN1B 0 0 3 0 0 3
CENPF 0 0 3 0 0 3
CEP290 2 1 0 0 0 3
CHD1 0 0 3 0 0 3
CHD4 0 1 2 0 0 3
CHRND 0 2 1 0 0 3
CLASP1, RNU4ATAC 1 2 0 0 0 3
CLTC 1 2 0 0 0 3
COL6A1 0 0 3 0 0 3
CPLANE1 2 0 1 0 0 3
CSF1R 1 1 1 0 0 3
CSNK2A1 1 1 1 0 0 3
DDHD2 0 2 1 0 0 3
DICER1 0 3 0 0 0 3
DLST 0 0 3 0 0 3
DNMT1 0 1 2 0 0 3
ERCC6, LOC126860933 1 1 1 0 0 3
F2 1 0 2 0 0 3
F7 1 1 1 0 0 3
FANCA 2 1 0 0 0 3
FLNB 1 1 1 0 0 3
FOXP1 1 1 1 0 0 3
FPGT-TNNI3K, TNNI3K 0 0 3 0 0 3
GALNS 1 2 0 0 0 3
GFAP 0 1 2 0 0 3
GJB1 2 1 0 0 0 3
GNAS 1 2 0 0 0 3
GNB5 2 1 0 0 0 3
GRIN2A 2 0 1 0 0 3
HBA-LCR, NPRL3 1 1 1 0 0 3
HFE 3 0 0 0 0 3
HIVEP2 3 0 0 0 0 3
HNF1B 1 2 0 0 0 3
HRAS, LRRC56 0 0 3 0 0 3
HUWE1 0 1 2 0 0 3
KCNC3 2 0 1 0 0 3
KCNQ4 0 0 3 0 0 3
KCNT1 2 1 0 0 0 3
KIF7 2 1 0 0 0 3
KIT 0 1 2 0 0 3
KMT2E 1 1 1 0 0 3
KRT5 2 1 0 0 0 3
LAMA1 1 0 2 0 0 3
LARS2 0 3 0 0 0 3
LOC102724058, SCN1A 0 2 1 0 0 3
LOC110121269, SCN5A 0 1 2 0 0 3
LOC114827851, MYH6 0 0 3 0 0 3
LOC126863275, MED12 0 0 3 0 0 3
LRP2 0 0 3 0 0 3
LRRK2 0 0 3 0 0 3
MED12 0 0 3 0 0 3
MED12L 0 1 2 0 0 3
MHRT, MYH7 0 0 2 1 0 3
MPL 1 0 1 1 0 3
MPZ 1 2 0 0 0 3
MT-ATP8 0 0 2 1 0 3
MT-CO3 0 0 2 1 0 3
MT-CYB 0 0 3 0 0 3
MT-ND5 0 0 3 0 0 3
MYH11, NDE1 0 0 3 0 0 3
MYH14 0 0 3 0 0 3
MYH9 1 0 2 0 0 3
MYLK 0 1 2 0 0 3
NIPBL 0 2 1 0 0 3
NKX2-5 0 2 1 0 0 3
NSD1 1 0 2 0 0 3
PACS2 1 0 2 0 0 3
PAH 3 0 0 0 0 3
PCDH19 1 0 2 0 0 3
PCSK9 0 0 3 0 0 3
PHEX, PTCHD1 2 1 0 0 0 3
PIEZO1 0 1 2 0 0 3
PKLR 2 1 0 0 0 3
POLR3A 1 0 2 0 0 3
PPP2R5D 2 0 1 0 0 3
PQBP1 1 2 0 0 0 3
PROS1 0 2 1 0 0 3
PTCH1 1 0 2 0 0 3
PTPRQ 0 3 0 0 0 3
QRICH1 1 1 1 0 0 3
RAD51C 3 0 0 0 0 3
RAF1 2 1 0 0 0 3
RAI1 3 0 0 0 0 3
RARS2 0 3 0 0 0 3
REEP1 0 3 0 0 0 3
RELN, SLC26A5 0 0 3 0 0 3
RUNX2 2 1 0 0 0 3
RYR3 0 0 3 0 0 3
SALL1 1 1 1 0 0 3
SAMD9L 0 1 2 0 0 3
SBF1 0 0 3 0 0 3
SCN3A 0 1 2 0 0 3
SCN4A 1 0 2 0 0 3
SEC23B 1 0 2 0 0 3
SETD1A 0 0 3 0 0 3
SGCA 2 1 0 0 0 3
SLC34A3 1 1 1 0 0 3
SMARCA2 1 1 1 0 0 3
SPG11 2 0 1 0 0 3
SPRED1 1 2 0 0 0 3
SPTAN1 1 0 2 0 0 3
SRCAP 1 0 2 0 0 3
STAG2 0 0 3 0 0 3
SYNGAP1 3 0 0 0 0 3
TCAP 0 0 3 0 0 3
TCF20 3 0 0 0 0 3
TCF4 2 0 1 0 0 3
TGFBI 2 0 1 0 0 3
TGFBR1 0 2 0 1 0 3
TMEM43 0 0 3 0 0 3
TPI1 1 0 2 0 0 3
WASHC5 0 0 3 0 0 3
AAAS 1 1 0 0 0 2
AARS1 0 0 2 0 0 2
ABCA3 0 1 1 0 0 2
ABCA4 2 0 0 0 0 2
ABCD1, PLXNB3 2 0 0 0 0 2
ABL1 0 0 2 0 0 2
ACSL4 0 0 2 0 0 2
ACTA1 1 1 0 0 0 2
ACVR1 1 0 1 0 0 2
AGL 0 0 2 0 0 2
AGXT 2 0 0 0 0 2
AHDC1 2 0 0 0 0 2
AKT3 1 0 1 0 0 2
ALDH7A1 1 1 0 0 0 2
ALMS1 1 1 0 0 0 2
ALOXE3 2 0 0 0 0 2
ANK2, LOC126807137 0 0 2 0 0 2
AP2S1 2 0 0 0 0 2
AP5Z1 0 1 1 0 0 2
APOB 1 0 1 0 0 2
ARID1A 1 0 1 0 0 2
ARX 0 0 2 0 0 2
ASL 2 0 0 0 0 2
ASPM 2 0 0 0 0 2
ATAD3A 0 0 2 0 0 2
ATP6V0C 0 0 2 0 0 2
ATP6V1A 1 1 0 0 0 2
ATXN7 0 0 2 0 0 2
AUTS2 2 0 0 0 0 2
BBS10 2 0 0 0 0 2
BCHE 1 1 0 0 0 2
BCORL1 0 0 2 0 0 2
BLTP1 0 0 2 0 0 2
BMPR2 0 0 2 0 0 2
BSCL2, HNRNPUL2-BSCL2 1 0 1 0 0 2
C12orf57, RNU7-1 1 1 0 0 0 2
C9 1 0 1 0 0 2
CACNA1H 0 0 2 0 0 2
CACNB2 0 0 2 0 0 2
CACNB4 0 0 2 0 0 2
CAMTA1 0 1 1 0 0 2
CASD1, SGCE 0 0 2 0 0 2
CASK 0 0 2 0 0 2
CEP85L, PLN 2 0 0 0 0 2
CFTR, LOC111674475 2 0 0 0 0 2
CHD5 0 1 1 0 0 2
CKAP2L 0 2 0 0 0 2
CLN6 1 1 0 0 0 2
CLTCL1 0 0 2 0 0 2
CNGB3 1 0 1 0 0 2
CNOT3 0 0 2 0 0 2
COL11A1 0 1 1 0 0 2
COL11A2 0 2 0 0 0 2
COL18A1, SLC19A1 1 0 1 0 0 2
COL4A4 0 2 0 0 0 2
COL4A6 0 0 2 0 0 2
COL6A2 1 0 1 0 0 2
COL9A1 0 1 1 0 0 2
COL9A2 0 1 1 0 0 2
CSNK2B 1 1 0 0 0 2
CSRP3 0 0 2 0 0 2
CUX2 0 0 2 0 0 2
CYBA 1 0 1 0 0 2
CYP1B1 2 0 0 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 0 2
CYP24A1 2 0 0 0 0 2
CYP7B1 2 0 0 0 0 2
DAB1 0 0 2 0 0 2
DCHS1 0 1 1 0 0 2
DDX11 0 2 0 0 0 2
DENND5A 0 1 1 0 0 2
DEPDC5 0 1 1 0 0 2
DHTKD1 1 0 1 0 0 2
DNM2 0 0 2 0 0 2
DRC1 1 1 0 0 0 2
DROSHA 0 0 2 0 0 2
DYRK1A 1 0 1 0 0 2
EBF3 0 1 1 0 0 2
EBP 0 0 2 0 0 2
ECEL1 0 0 2 0 0 2
EDC3 0 0 2 0 0 2
EHMT1 2 0 0 0 0 2
ELP1 0 1 1 0 0 2
EPAS1 0 1 1 0 0 2
EXPH5 2 0 0 0 0 2
F13A1 1 1 0 0 0 2
F5 1 0 1 0 0 2
FANCI 2 0 0 0 0 2
FGF12 1 0 1 0 0 2
FGF23 1 1 0 0 0 2
FGFR2 1 0 1 0 0 2
FIG4 0 1 1 0 0 2
FLT4 0 2 0 0 0 2
FMR1 1 0 1 0 0 2
FOXC2 0 1 1 0 0 2
FRMPD4 0 1 1 0 0 2
FTL 1 0 1 0 0 2
FUS 1 0 1 0 0 2
G6PC1 2 0 0 0 0 2
GABRA1 1 0 1 0 0 2
GALC 1 1 0 0 0 2
GALE 0 0 2 0 0 2
GATA2 2 0 0 0 0 2
GBA2 1 0 1 0 0 2
GEMIN5 0 0 2 0 0 2
GLRA1 1 0 1 0 0 2
GNRHR 1 1 0 0 0 2
GP9 1 1 0 0 0 2
GPC3 0 0 2 0 0 2
GRIN2B 1 0 1 0 0 2
HAX1 2 0 0 0 0 2
HCN4 0 1 1 0 0 2
HCN4, LOC105370890, LOC126862173 0 0 2 0 0 2
HDAC8 2 0 0 0 0 2
HECW2 1 0 1 0 0 2
HSPB1 1 0 1 0 0 2
HYDIN 0 0 2 0 0 2
IDUA 0 2 0 0 0 2
IDUA, SLC26A1 1 0 1 0 0 2
IFIH1 1 1 0 0 0 2
IFT122 0 1 1 0 0 2
IL1RAPL1 0 0 2 0 0 2
INPP5E 0 0 2 0 0 2
INVS 0 1 1 0 0 2
IRAK1BP1, PHIP 0 2 0 0 0 2
IVD 2 0 0 0 0 2
KCND3 0 1 1 0 0 2
KCNH1 0 0 2 0 0 2
KCNJ2 0 0 2 0 0 2
KCNT2 0 0 2 0 0 2
KDM5B 1 1 0 0 0 2
KDM6A 2 0 0 0 0 2
KDM6B, LOC121587574 2 0 0 0 0 2
KIF14 0 0 2 0 0 2
KIF5C 1 0 1 0 0 2
KRT1 0 0 2 0 0 2
KRT14 1 0 1 0 0 2
LAMA4 0 0 2 0 0 2
LARS1 1 0 1 0 0 2
LMX1B 2 0 0 0 0 2
LOC126806068, RYR2 0 0 2 0 0 2
LPL 1 0 1 0 0 2
LTBP2 0 1 1 0 0 2
LURAP1L, TYRP1 0 2 0 0 0 2
MAGEL2 2 0 0 0 0 2
MAN2B1 0 2 0 0 0 2
MAP3K1 0 1 1 0 0 2
MAP3K7 0 1 1 0 0 2
MAPK8IP3 0 0 2 0 0 2
MED13L 2 0 0 0 0 2
MFN2 1 0 1 0 0 2
MIB1 0 0 2 0 0 2
MID1 0 1 1 0 0 2
MITF 1 0 1 0 0 2
MKS1 1 0 1 0 0 2
MN1 0 0 2 0 0 2
MORC2 0 0 2 0 0 2
MPV17 1 1 0 0 0 2
MT-ND4 1 0 0 1 0 2
MT-ND6 1 0 0 1 0 2
MT-RNR1 0 1 1 0 0 2
MT-TS1 1 1 0 0 0 2
MTM1 2 0 0 0 0 2
MTOR 0 0 2 0 0 2
MYBPC1 0 1 1 0 0 2
MYH11 0 1 1 0 0 2
MYH2, MYHAS 1 0 1 0 0 2
MYH3 0 1 1 0 0 2
MYORG 0 1 1 0 0 2
NARS1 1 0 1 0 0 2
NEB 0 0 2 0 0 2
NEK8 0 0 2 0 0 2
NFIX 1 1 0 0 0 2
NHS 0 0 2 0 0 2
NPC2 0 1 1 0 0 2
NPHS1 2 0 0 0 0 2
NPR2 0 0 2 0 0 2
NRAS 1 1 0 0 0 2
NUP133 0 2 0 0 0 2
OCRL 0 0 2 0 0 2
ODAD2 0 0 2 0 0 2
P4HB 0 0 2 0 0 2
PAX3 0 1 1 0 0 2
PAX6 2 0 0 0 0 2
PDE2A 0 2 0 0 0 2
PDHA1 1 1 0 0 0 2
PEX6 2 0 0 0 0 2
PHF6 1 0 1 0 0 2
PHKA1 0 0 2 0 0 2
PIGV 0 1 1 0 0 2
PINK1 1 0 1 0 0 2
PITRM1 0 1 1 0 0 2
PMM2 2 0 0 0 0 2
PNKP 1 1 0 0 0 2
PNPO 1 1 0 0 0 2
POGZ 1 1 0 0 0 2
PRKCG 0 1 1 0 0 2
PRKG1 1 0 1 0 0 2
PRKN 0 2 0 0 0 2
PROP1 2 0 0 0 0 2
PSEN1 1 1 0 0 0 2
PUF60 1 1 0 0 0 2
PURA 2 0 0 0 0 2
RAD51D, RAD51L3-RFFL 1 0 1 0 0 2
RASA1 2 0 0 0 0 2
RB1 2 0 0 0 0 2
RHOBTB2 0 1 1 0 0 2
RIMS2 0 0 2 0 0 2
RIN2 0 0 2 0 0 2
RINT1 0 2 0 0 0 2
RMRP 1 1 0 0 0 2
RNU4-2, SIRT4 0 1 1 0 0 2
RPGR 1 0 1 0 0 2
RUNX1 1 0 1 0 0 2
SATB2 1 1 0 0 0 2
SBDS 2 0 0 0 0 2
SBF2 0 0 2 0 0 2
SCN1B 0 0 2 0 0 2
SCN2A 1 1 0 0 0 2
SERPINA1 2 0 0 0 0 2
SETBP1 1 0 1 0 0 2
SGSH 2 0 0 0 0 2
SIK3 0 0 2 0 0 2
SIN3A 1 1 0 0 0 2
SKIC2 0 2 0 0 0 2
SLC17A5 1 0 1 0 0 2
SLC20A2 0 2 0 0 0 2
SLC22A5 2 0 0 0 0 2
SLC25A38 1 1 0 0 0 2
SLC29A3 1 0 1 0 0 2
SLC34A1 0 0 2 0 0 2
SLC3A1 1 0 1 0 0 2
SLC4A3 0 0 2 0 0 2
SLC7A9 0 1 1 0 0 2
SMAD4 2 0 0 0 0 2
SMARCA4 1 0 1 0 0 2
SMARCB1 0 2 0 0 0 2
SMARCC1 0 1 1 0 0 2
SMARCC2 0 0 2 0 0 2
SNX14 2 0 0 0 0 2
SON 1 0 1 0 0 2
SORL1 0 0 2 0 0 2
SOX5 1 0 1 0 0 2
SP7 0 0 2 0 0 2
SPINK5 2 0 0 0 0 2
STAG3 0 0 2 0 0 2
STIM1 0 1 1 0 0 2
STXBP2 0 2 0 0 0 2
SUZ12 0 1 1 0 0 2
SYN1 0 0 2 0 0 2
SYNE2 0 0 2 0 0 2
TACR3 1 1 0 0 0 2
TANC2 0 0 2 0 0 2
TCOF1 1 1 0 0 0 2
TEK 2 0 0 0 0 2
TGFB2 0 2 0 0 0 2
TGM1 2 0 0 0 0 2
TGM6 0 0 2 0 0 2
TH 0 2 0 0 0 2
THSD4 0 0 2 0 0 2
TMEM260 0 2 0 0 0 2
TNC 0 1 1 0 0 2
TNNC1 0 1 1 0 0 2
TNRC6A 0 0 2 0 0 2
TP63 1 0 1 0 0 2
TPM2 0 1 1 0 0 2
TTR 2 0 0 0 0 2
UBAP1 0 0 2 0 0 2
UBAP2L 1 0 1 0 0 2
UMOD 0 1 1 0 0 2
UPF3B 0 1 1 0 0 2
USH1C 1 1 0 0 0 2
VCP 0 1 1 0 0 2
VHL 2 0 0 0 0 2
VPS13B 1 0 1 0 0 2
WAC 1 1 0 0 0 2
WDR35 0 2 0 0 0 2
WDR62 0 1 1 0 0 2
WFS1 1 1 0 0 0 2
WRN 1 1 0 0 0 2
XRCC2 0 0 2 0 0 2
ZBTB20 0 1 1 0 0 2
ZNF423 0 0 2 0 0 2
ZSWIM6 1 0 1 0 0 2
AAGAB 1 0 0 0 0 1
AAGAB, LOC130057363 1 0 0 0 0 1
ABCB11 1 0 0 0 0 1
ABCB4 0 0 1 0 0 1
ABCC2 1 0 0 0 0 1
ABCD1 1 0 0 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, LOC106029311, LOC106029312, LOC107986742, LOC108254673, LOC111413044, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC121175345, LOC121175346, LOC121740686, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC126860072, LOC126860073, LOC126860074, LOC129869689, LOC129998584, LOC129998585, LOC129998586, LOC129998587, LOC129998588, LOC129998589, LOC129998590, LOC129998591, LOC129998592, LOC129998593, LOC129998594, LOC129998595, LOC129998596, LOC129998597, LOC129998598, LOC129998599, LOC129998600, LOC129998601, LOC129998602, LOC129998603, LOC129998604, LOC129998605, LOC129998606, LOC129998607, LOC129998608, LOC129998609, LOC129998610, LOC129998611, LOC129998612, LOC129998613, LOC129998614, LOC129998615, LOC129998616, LOC129998617, LOC129998618, LOC129998619, LOC129998620, LOC129998621, LOC129998622, LOC129998623, LOC129998624, LOC129998625, LOC129998626, LOC129998627, LOC129998628, LOC129998629, LOC129998630, LOC129998631, LOC129998632, LOC129998633, LOC129998634, LOC129998635, LOC129998636, LOC129998637, LOC129998638, LOC129998639, LOC129998640, LOC129998641, LOC129998642, LOC129998643, LOC129998644, LOC129998645, LOC129998646, LOC129998647, LOC129998648, LOC129998649, LOC129998650, LOC129998651, LOC129998652, LOC129998653, LOC129998654, LOC129998655, LOC129998656, LOC129998657, LOC129998658, LOC129998659, LOC129998660, LOC129998661, LOC129998662, LOC129998663, LOC129998664, METTL27, MIR10525, MIR4284, MIR590, MLXIPL, NSUN5, RFC2, STX1A, TBL2, TMEM270, TRIM50, VPS37D 1 0 0 0 0 1
ACADM 1 0 0 0 0 1
ACADS 0 1 0 0 0 1
ACAT1 0 1 0 0 0 1
ACTA2 0 0 1 0 0 1
ACTG2 1 0 0 0 0 1
ACTL6B 0 1 0 0 0 1
ADA2 1 0 0 0 0 1
ADAM22 0 1 0 0 0 1
ADAMTS10 0 0 1 0 0 1
ADAMTS18 0 0 1 0 0 1
ADAMTS2 0 0 1 0 0 1
ADAR, LOC126805874 1 0 0 0 0 1
ADCY6, SPMIP11 0 0 1 0 0 1
ADGRG1 0 0 1 0 0 1
ADNP, DPM1 0 0 1 0 0 1
AFF2 0 0 1 0 0 1
AFF3 1 0 0 0 0 1
AFF4 0 0 1 0 0 1
AGRN, LOC126805576, LOC129929075 0 1 0 0 0 1
AHI1 0 0 1 0 0 1
AIMP1 0 0 1 0 0 1
AIPL1 0 1 0 0 0 1
ALDH4A1 0 1 0 0 0 1
ALDOA, LOC112694756 0 0 1 0 0 1
ALDOB 1 0 0 0 0 1
ALG13 0 0 1 0 0 1
ALK 0 0 1 0 0 1
AMD1, CDK19 0 1 0 0 0 1
AMER1 0 0 1 0 0 1
AMMECR1 0 1 0 0 0 1
ANK1 0 1 0 0 0 1
ANKRD26 0 0 1 0 0 1
ANKS6 0 0 1 0 0 1
ANO5 1 0 0 0 0 1
ANOS1 0 0 1 0 0 1
AOPEP, FANCC 1 0 0 0 0 1
AP1G1 0 0 1 0 0 1
AP4S1 1 0 0 0 0 1
APC, LOC129994371 0 1 0 0 0 1
APC2 0 1 0 0 0 1
APOA5 1 0 0 0 0 1
APOE 0 0 1 0 0 1
APP 1 0 0 0 0 1
ARFGEF1 0 0 1 0 0 1
ARHGAP19, ARHGAP19-SLIT1 0 1 0 0 0 1
ARHGAP29 0 0 1 0 0 1
ARHGEF10 0 0 1 0 0 1
ARHGEF18 0 0 1 0 0 1
ARHGEF9 0 1 0 0 0 1
ARID2 1 0 0 0 0 1
ARL13B 0 0 1 0 0 1
ASH1L 0 0 1 0 0 1
ASIC4, SPEG 0 0 1 0 0 1
ASPH 0 0 1 0 0 1
ATL1 0 0 1 0 0 1
ATP2B1 0 0 1 0 0 1
ATP2B3 0 0 1 0 0 1
ATP6AP1 0 0 1 0 0 1
ATP6AP2 0 0 1 0 0 1
ATP6V0A2, LOC130009117 0 1 0 0 0 1
ATP6V0A4 0 1 0 0 0 1
ATP6V1B1 1 0 0 0 0 1
ATP6V1B2 0 0 1 0 0 1
ATP6V1E1 0 1 0 0 0 1
ATP7A 1 0 0 0 0 1
ATP7B 1 0 0 0 0 1
ATR 0 0 1 0 0 1
AVIL 0 0 1 0 0 1
AXIN1 0 0 1 0 0 1
B4GALNT1 0 1 0 0 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 0 0 1
BDH1, CEP19, DLG1, DYNLT2B, FBXO45, LINC00885, LINC01063, LINC02012, LOC105374308, LOC111828515, LOC112935924, LOC115995537, LOC115995538, LOC121048736, LOC121725167, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC123464503, LOC123464504, LOC123464505, LOC126806932, LOC126806933, LOC126806934, LOC126806935, LOC126806936, LOC129389196, LOC129389197, LOC129938262, LOC129938263, LOC129938264, LOC129938265, LOC129938266, LOC129938267, LOC129938268, LOC129938269, LOC129938270, LOC129938271, LOC129938272, LOC129938273, LOC129938274, LOC129938275, LOC129938276, LOC129938277, LOC129938278, LOC129938279, LOC129938280, LOC129938281, LOC129938282, LOC129938283, LOC129938284, LOC129938285, LOC129938286, LOC129938287, LOC129938288, LOC129938289, LOC129938290, LOC129938291, LOC129938292, LOC129938293, LOC129938294, LOC129938295, LOC129938296, LOC129938297, LOC129938298, LOC129938299, LOC129938300, LOC129938301, LOC129938302, LOC129938303, LOC129938304, LOC129938305, LOC129938306, LOC129938307, LOC129938308, LOC129938309, LOC129938310, LOC129938311, LOC129938312, LOC129938313, LOC129938314, LOC129938315, MELTF, MIR4797, NCBP2, NCBP2AS2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, TM4SF19-DYNLT2B, UBXN7, WDR53, ZDHHC19 1 0 0 0 0 1
BEAN1 0 0 1 0 0 1
BEST1, FTH1 1 0 0 0 0 1
BICD2 0 0 1 0 0 1
BICRA 0 1 0 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, DHX34, EHD2, INAFM1, KPTN, LOC112552166, LOC116286190, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064801, LOC130064802, LOC130064803, LOC130064804, LOC130064805, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, TPRX1, ZNF541 0 1 0 0 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 1 0 0 0 1
BMP2 0 0 1 0 0 1
BMP4 0 0 1 0 0 1
BRAT1 0 1 0 0 0 1
BRPF1 0 0 1 0 0 1
BTK 0 1 0 0 0 1
BUD13 0 0 1 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
C19orf12 1 0 0 0 0 1
C1R 0 0 1 0 0 1
C2 1 0 0 0 0 1
C7 1 0 0 0 0 1
CABP2 1 0 0 0 0 1
CABP4 0 1 0 0 0 1
CACNA1E 0 1 0 0 0 1
CACNA1I 0 0 1 0 0 1
CACNA1S 0 0 1 0 0 1
CADM3 0 0 1 0 0 1
CALR3 0 0 1 0 0 1
CAMK2G 0 0 1 0 0 1
CAPN1 0 0 1 0 0 1
CASQ2 0 0 1 0 0 1
CAV3, OXTR 0 1 0 0 0 1
CBS 1 0 0 0 0 1
CC2D2A 0 1 0 0 0 1
CC2D2A, FBXL5 1 0 0 0 0 1
CCDC22 0 0 1 0 0 1
CCDC39 1 0 0 0 0 1
CCDC85C, CCNK 0 0 1 0 0 1
CCDC88C 0 0 1 0 0 1
CCM2 0 1 0 0 0 1
CCM2, LOC129998395 0 0 1 0 0 1
CCN6 1 0 0 0 0 1
CCND2 1 0 0 0 0 1
CCNK 0 0 1 0 0 1
CCNO, LOC129993895 1 0 0 0 0 1
CDH23, LOC130004037, VSIR 0 0 1 0 0 1
CDK10 1 0 0 0 0 1
CDK8 0 1 0 0 0 1
CDKN1C 1 0 0 0 0 1
CDON 0 0 1 0 0 1
CDT1 0 0 1 0 0 1
CEACAM16 0 0 1 0 0 1
CELF2 0 1 0 0 0 1
CELSR1 0 0 1 0 0 1
CEP152 0 1 0 0 0 1
CEP57 0 1 0 0 0 1
CEP85L 0 1 0 0 0 1
CERS1, GDF1 0 0 1 0 0 1
CFAP20DC 0 0 1 0 0 1
CFAP53 1 0 0 0 0 1
CFHR5 0 0 1 0 0 1
CGNL1 0 0 1 0 0 1
CHCHD10 1 0 0 0 0 1
CHD3 0 1 0 0 0 1
CHM 1 0 0 0 0 1
CHMP1A 0 0 1 0 0 1
CHRNE 0 0 1 0 0 1
CHRNG 1 0 0 0 0 1
CHST14 0 0 1 0 0 1
CHST3 0 1 0 0 0 1
CIC 0 0 1 0 0 1
CIT 0 0 1 0 0 1
CLCN2 0 1 0 0 0 1
CLCN6 0 0 1 0 0 1
CLCN7 0 1 0 0 0 1
CLCN7, LOC130058166 0 0 1 0 0 1
CLN3 1 0 0 0 0 1
CLP1 1 0 0 0 0 1
CLTC, LOC125177523 0 1 0 0 0 1
CNKSR2 0 0 1 0 0 1
CNNM2, LOC130004628 0 0 1 0 0 1
CNPY3, CNPY3-GNMT 0 0 1 0 0 1
COCH, LOC100506071 0 0 1 0 0 1
COL12A1, LOC126859712 0 0 1 0 0 1
COL1A1, LOC126862586 1 0 0 0 0 1
COL4A2 0 0 1 0 0 1
COLQ 1 0 0 0 0 1
COMP 1 0 0 0 0 1
COQ7 0 1 0 0 0 1
COQ8A 0 0 1 0 0 1
CORO1A 0 0 1 0 0 1
COX6B1 0 0 1 0 0 1
CPT1C 0 0 1 0 0 1
CPT2 0 0 1 0 0 1
CPT2, LOC129930561 1 0 0 0 0 1
CRYAA 1 0 0 0 0 1
CSDE1 1 0 0 0 0 1
CSGALNACT1 0 1 0 0 0 1
CSPP1 1 0 0 0 0 1
CTH 0 0 1 0 0 1
CTLA4 0 1 0 0 0 1
CTR9 0 0 1 0 0 1
CTRC 0 1 0 0 0 1
CUBN 0 0 1 0 0 1
CUL3 0 1 0 0 0 1
CYFIP2 0 1 0 0 0 1
CYLD 1 0 0 0 0 1
CYP11B1, LOC106799833 0 0 1 0 0 1
CYP11B2, LOC106799834 0 1 0 0 0 1
CYP27B1 1 0 0 0 0 1
CYP2U1 1 0 0 0 0 1
DBR1 0 0 1 0 0 1
DCAF8 0 0 1 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
DCX 0 0 1 0 0 1
DDR2 0 0 1 0 0 1
DDX41 1 0 0 0 0 1
DGAT2 0 0 1 0 0 1
DHDDS 1 0 0 0 0 1
DHX16 0 0 1 0 0 1
DHX30 0 0 1 0 0 1
DHX37 0 0 1 0 0 1
DHX9 0 0 1 0 0 1
DIAPH1 0 1 0 0 0 1
DKC1 0 0 1 0 0 1
DLD 1 0 0 0 0 1
DLG3 0 0 1 0 0 1
DLG4, LOC126862479 1 0 0 0 0 1
DLL3 1 0 0 0 0 1
DMXL2, LOC126862131 0 0 1 0 0 1
DNAAF11 1 0 0 0 0 1
DNASE1 0 0 1 0 0 1
DNM1L, LOC130007663 0 0 1 0 0 1
DOCK7 0 1 0 0 0 1
DOK7 1 0 0 0 0 1
DPAGT1 0 1 0 0 0 1
DPP6 0 0 1 0 0 1
DPYD 0 0 1 0 0 1
DRP2 0 0 1 0 0 1
DST 0 0 1 0 0 1
DUOX2 1 0 0 0 0 1
DYSF 0 1 0 0 0 1
EDAR, RANBP2 0 1 0 0 0 1
EDNRA 0 0 1 0 0 1
EDNRB 0 0 1 0 0 1
EEF2 0 0 1 0 0 1
EFEMP2 0 0 1 0 0 1
EGLN1 0 0 1 0 0 1
EGR2 0 0 1 0 0 1
EIF2AK1 0 0 1 0 0 1
EIF2B3 0 1 0 0 0 1
ELOVL4 0 1 0 0 0 1
EME2, MRPS34 1 0 0 0 0 1
EPB41L1 0 0 1 0 0 1
EPC1 0 0 1 0 0 1
EPHB4, LOC126860124 0 1 0 0 0 1
ERCC2 0 0 1 0 0 1
ERCC6 0 1 0 0 0 1
ERCC6L2 0 0 1 0 0 1
ERCC8 0 1 0 0 0 1
ERLIN2 0 0 1 0 0 1
ESCO2 1 0 0 0 0 1
ETHE1 0 1 0 0 0 1
ETV6, LOC126861452 1 0 0 0 0 1
EVC 0 1 0 0 0 1
EXT1 1 0 0 0 0 1
EXT2 0 0 1 0 0 1
EYA1 1 0 0 0 0 1
EZH2 0 0 1 0 0 1
F12 0 0 1 0 0 1
F13B 0 0 1 0 0 1
FAM50A 0 0 1 0 0 1
FANCA, ZNF276 0 1 0 0 0 1
FANCB 0 0 1 0 0 1
FANCC 0 1 0 0 0 1
FAR1 1 0 0 0 0 1
FAS 1 0 0 0 0 1
FAT2, SLC36A1 0 0 1 0 0 1
FAT4 0 1 0 0 0 1
FBN1, LOC113939944 0 1 0 0 0 1
FBN1, LOC126862124 0 1 0 0 0 1
FBXO11 0 1 0 0 0 1
FBXW7 0 1 0 0 0 1
FCN3 0 1 0 0 0 1
FCSK 0 0 1 0 0 1
FGB 0 0 1 0 0 1
FGD1 1 0 0 0 0 1
FGD4 0 0 1 0 0 1
FGF8 0 1 0 0 0 1
FKBP10 0 1 0 0 0 1
FKRP 1 0 0 0 0 1
FMO3 0 0 1 0 0 1
FMO3, LOC126805916 1 0 0 0 0 1
FN1 0 0 1 0 0 1
FOXC1 0 0 1 0 0 1
FOXG1 0 1 0 0 0 1
FOXN1 0 1 0 0 0 1
FOXO1 0 0 1 0 0 1
FPGT-TNNI3K, LRRC53, TNNI3K 0 0 1 0 0 1
FREM1, LOC126860582 0 0 1 0 0 1
FRMD4A 0 0 1 0 0 1
FUCA1 0 1 0 0 0 1
FXN 0 1 0 0 0 1
FZD4, PRSS23 1 0 0 0 0 1
GAK 0 0 1 0 0 1
GALC, LOC130056217 0 1 0 0 0 1
GAMT 1 0 0 0 0 1
GAMT, LOC130062945 0 1 0 0 0 1
GATA3 1 0 0 0 0 1
GATA4 0 1 0 0 0 1
GATA6 0 0 1 0 0 1
GBA1 1 0 0 0 0 1
GBF1 0 0 1 0 0 1
GCK 0 0 1 0 0 1
GCM2 0 0 1 0 0 1
GFI1B 0 1 0 0 0 1
GH-LCR, GH1 1 0 0 0 0 1
GHSR 0 0 1 0 0 1
GIGYF1 0 0 1 0 0 1
GJA8 0 1 0 0 0 1
GJB3 0 0 1 0 0 1
GJC2 1 0 0 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
GLI2 0 0 1 0 0 1
GLI3 1 0 0 0 0 1
GLRA2 0 0 1 0 0 1
GLRB 0 0 1 0 0 1
GLUL, LOC126805944 0 0 1 0 0 1
GNAL 0 0 1 0 0 1
GNAO1 0 0 1 0 0 1
GNB1 0 0 1 0 0 1
GNE 0 0 1 0 0 1
GNPTAB 1 0 0 0 0 1
GP1BA, LOC130060044 0 0 1 0 0 1
GPD1 0 0 1 0 0 1
GPR143 0 1 0 0 0 1
GRIA2 0 0 1 0 0 1
GRIA3 0 1 0 0 0 1
GRIA4 0 0 1 0 0 1
GRM1 0 1 0 0 0 1
H1-4 0 1 0 0 0 1
HAAO 0 0 1 0 0 1
HADHB 0 0 1 0 0 1
HDAC4 0 0 1 0 0 1
HEXA 0 0 1 0 0 1
HEXB 1 0 0 0 0 1
HJV 1 0 0 0 0 1
HMBS 1 0 0 0 0 1
HMGCR 0 0 1 0 0 1
HNRNPA1 0 0 1 0 0 1
HNRNPK 0 1 0 0 0 1
HNRNPU 1 0 0 0 0 1
HOXA2 0 1 0 0 0 1
HPGD 1 0 0 0 0 1
HPS1 1 0 0 0 0 1
HSD17B4 0 0 1 0 0 1
HSPD1 1 0 0 0 0 1
HSPG2 0 0 1 0 0 1
HTT 0 0 1 0 0 1
IARS2 0 0 1 0 0 1
IFT140 1 0 0 0 0 1
IFT172 0 1 0 0 0 1
IGF1, LINC02456 0 1 0 0 0 1
IGSF1 0 0 1 0 0 1
IHH 0 0 1 0 0 1
IL11RA 0 1 0 0 0 1
IL6ST 1 0 0 0 0 1
IMPG1 0 1 0 0 0 1
INO80 0 0 1 0 0 1
INPP5K 0 1 0 0 0 1
INSL6, JAK2 0 0 1 0 0 1
INSR 0 0 1 0 0 1
IP6K1 0 0 1 0 0 1
IQSEC2 0 0 1 0 0 1
ITGA8 0 0 1 0 0 1
ITGB3 1 0 0 0 0 1
ITGB4 0 1 0 0 0 1
ITK 0 0 1 0 0 1
ITM2B 0 0 1 0 0 1
ITM2B, LOC130009751 0 0 1 0 0 1
JAG1 0 1 0 0 0 1
JMJD1C 0 0 1 0 0 1
KAT6B 1 0 0 0 0 1
KAT8 0 0 1 0 0 1
KATNB1 0 0 1 0 0 1
KATNIP 0 0 1 0 0 1
KCNA1 0 0 1 0 0 1
KCNA2 1 0 0 0 0 1
KCNA5 0 0 1 0 0 1
KCNB1 0 1 0 0 0 1
KCNC1 0 0 1 0 0 1
KCNC3, LOC130064972 0 0 1 0 0 1
KCNE1 0 1 0 0 0 1
KCNE5 0 0 1 0 0 1
KCNJ11 0 0 1 0 0 1
KCNJ18 0 0 1 0 0 1
KCNK4, KCNK4-CATSPERZ 0 1 0 0 0 1
KCNN4 0 0 1 0 0 1
KCTD7 0 0 1 0 0 1
KDM5B, LOC129932249 0 1 0 0 0 1
KDR 0 0 1 0 0 1
KIAA0586 1 0 0 0 0 1
KIDINS220 0 0 1 0 0 1
KIF11 0 1 0 0 0 1
KIF1B 0 0 1 0 0 1
KIF20A 0 0 1 0 0 1
KIF21A 1 0 0 0 0 1
KIF21B 0 0 1 0 0 1
KIF2A 0 0 1 0 0 1
KIF5B 0 1 0 0 0 1
KISS1R 0 0 1 0 0 1
KLF12 0 0 1 0 0 1
KLHL3 1 0 0 0 0 1
KLHL40 0 0 1 0 0 1
KMT2B 0 0 1 0 0 1
KMT2C 1 0 0 0 0 1
KMT2D, LOC130007817 0 0 1 0 0 1
KNL1 0 1 0 0 0 1
KRAS 0 1 0 0 0 1
KRT17 1 0 0 0 0 1
KRT5, LOC126861526 0 0 1 0 0 1
KRT6A 1 0 0 0 0 1
KRT6C 1 0 0 0 0 1
KRT81, KRT86 0 0 1 0 0 1
KRT9 1 0 0 0 0 1
L1CAM 0 0 1 0 0 1
L2HGDH 1 0 0 0 0 1
LAMA2 0 0 1 0 0 1
LAMB1 0 0 1 0 0 1
LAMB3 0 0 1 0 0 1
LAMC3 0 0 1 0 0 1
LAMP2 1 0 0 0 0 1
LARGE1 0 0 1 0 0 1
LBR 1 0 0 0 0 1
LGI1 0 0 1 0 0 1
LHX4 0 0 1 0 0 1
LITAF 1 0 0 0 0 1
LMNA, LOC126805877 0 1 0 0 0 1
LMNA, LOC129931597 1 0 0 0 0 1
LOC100131626, UBE4A 0 0 1 0 0 1
LOC100287944, POLR3B 0 0 1 0 0 1
LOC100287944, RFX4 0 0 1 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 1
LOC101927055, TTN 0 1 0 0 0 1
LOC101928008, SBF2 0 0 1 0 0 1
LOC105369937, MYBPC1 0 0 1 0 0 1
LOC106780803, TNXB 0 1 0 0 0 1
LOC107372315, OSGEP 1 0 0 0 0 1
LOC107652445, SHOX 0 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 0 1 0 0 0 1
LOC110006317, LOC110006318, LOC121627843, LOC130062897, LOC130062898, STK11 1 0 0 0 0 1
LOC111811965, MIR4733HG, NF1 0 1 0 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
LOC122152296, USH2A 1 0 0 0 0 1
LOC124625920, PDE3A 0 0 1 0 0 1
LOC126805765, NEXN 0 0 1 0 0 1
LOC126806067, RYR2 0 0 1 0 0 1
LOC126806426, TTN 0 1 0 0 0 1
LOC126806433, TTN 0 1 0 0 0 1
LOC126807323, TRIO 0 0 1 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 1
LOC126859697, MLIP 0 1 0 0 0 1
LOC126860469, ZFPM2 0 0 1 0 0 1
LOC126860802, ZMYND11 0 0 1 0 0 1
LOC126861284, PICALM 0 0 1 0 0 1
LOC126861896, MYH6 0 0 1 0 0 1
LOC126861936, NIN 0 0 1 0 0 1
LOC126862501, MYH2, MYHAS 0 0 1 0 0 1
LOC129390903, RAD51C 1 0 0 0 0 1
LOC129391106, RYR1 0 0 1 0 0 1
LOC129992813, PKD2 1 0 0 0 0 1
LOC129994985, TCOF1 1 0 0 0 0 1
LOC129995635, TUBB2A 0 1 0 0 0 1
LOC130005685, NUP160 0 0 1 0 0 1
LOC130058907, SLC5A2 1 0 0 0 0 1
LOC130060903, NAGLU 0 0 1 0 0 1
LOC130066868, LSS 0 0 1 0 0 1
LOX, SRFBP1 0 1 0 0 0 1
LOXHD1 0 1 0 0 0 1
LRPPRC 0 0 1 0 0 1
LRSAM1 0 0 1 0 0 1
LTBP3 0 0 1 0 0 1
MAOA 0 0 1 0 0 1
MAP2K2 1 0 0 0 0 1
MAPK1 1 0 0 0 0 1
MAPT 1 0 0 0 0 1
MARCHF6 0 0 1 0 0 1
MARS1 0 0 1 0 0 1
MARVELD2 0 1 0 0 0 1
MASP1 0 1 0 0 0 1
MAST1 0 0 1 0 0 1
MATN3 0 0 1 0 0 1
MATR3 0 0 1 0 0 1
MBOAT7 1 0 0 0 0 1
MC4R 1 0 0 0 0 1
MCCC1 1 0 0 0 0 1
MCOLN1 0 0 1 0 0 1
MDH2 0 1 0 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MED23 0 0 1 0 0 1
MED25 0 0 1 0 0 1
MFAP5 0 0 1 0 0 1
MID2 0 0 1 0 0 1
MIR1225, PKD1 1 0 0 0 0 1
MKKS 1 0 0 0 0 1
MME 1 0 0 0 0 1
MMGT1 0 0 1 0 0 1
MMP2 0 1 0 0 0 1
MNX1 0 1 0 0 0 1
MOB2 0 0 1 0 0 1
MOCOS 0 0 1 0 0 1
MOCS2 0 0 1 0 0 1
MOV10L1 0 0 1 0 0 1
MSC, TRPA1 0 0 1 0 0 1
MSL3 1 0 0 0 0 1
MSN 0 1 0 0 0 1
MSRB3 0 0 1 0 0 1
MT-ATP6, MT-ATP8 0 0 0 1 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 1
MT-ND1, MT-TL1 1 0 0 0 0 1
MT-ND2 0 0 1 0 0 1
MT-ND3 0 0 1 0 0 1
MT-ND5, MT-ND6 1 0 0 0 0 1
MT-TE 0 1 0 0 0 1
MT-TL1 1 0 0 0 0 1
MT-TM 0 0 1 0 0 1
MT-TQ 0 0 0 1 0 1
MT-TW 1 0 0 0 0 1
MTHFR 0 0 1 0 0 1
MTSS2 0 0 1 0 0 1
MUC1 0 0 1 0 0 1
MVK 1 0 0 0 0 1
MYCN 0 1 0 0 0 1
MYCN, MYCNOS 0 0 1 0 0 1
MYH10 0 0 1 0 0 1
MYL4 0 0 1 0 0 1
MYLK3 0 0 1 0 0 1
MYO18B 0 0 1 0 0 1
MYO5A 0 0 1 0 0 1
MYOT, PKD2L2-DT 0 1 0 0 0 1
NAA15 0 1 0 0 0 1
NACC1 0 0 1 0 0 1
NAGLU 0 0 1 0 0 1
NBN 1 0 0 0 0 1
NCAPD2 0 0 1 0 0 1
NCKAP1 1 0 0 0 0 1
NCKAP1L 0 0 1 0 0 1
NDRG1 0 0 1 0 0 1
NEFH 0 0 1 0 0 1
NEFL 0 1 0 0 0 1
NEK9 0 1 0 0 0 1
NF2 0 1 0 0 0 1
NFIA 0 0 1 0 0 1
NHLRC1 1 0 0 0 0 1
NIPAL4 1 0 0 0 0 1
NKIRAS1, RPL15 1 0 0 0 0 1
NLRP3 1 0 0 0 0 1
NOD2 0 0 1 0 0 1
NONO 0 0 1 0 0 1
NOTCH2 0 0 1 0 0 1
NPHP4 0 1 0 0 0 1
NRAP 0 0 1 0 0 1
NRXN3 0 0 1 0 0 1
NSD2 1 0 0 0 0 1
NTHL1, TSC2 1 0 0 0 0 1
NUP160 0 0 1 0 0 1
NUP205 0 0 1 0 0 1
NUS1 1 0 0 0 0 1
ODAD3 1 0 0 0 0 1
ODAPH 1 0 0 0 0 1
OGT 0 0 1 0 0 1
OPA3 0 0 1 0 0 1
OPN1LW 0 1 0 0 0 1
OPTN 0 0 1 0 0 1
ORAI1 0 0 1 0 0 1
ORC1 0 0 1 0 0 1
OSGEP 1 0 0 0 0 1
OTOA 0 1 0 0 0 1
OTOG 1 0 0 0 0 1
OTOGL 0 0 1 0 0 1
P2RX2 0 0 1 0 0 1
PACS1 0 0 1 0 0 1
PAK3 0 1 0 0 0 1
PARN 0 0 1 0 0 1
PCDH12, RNF14 1 0 0 0 0 1
PDCD10 1 0 0 0 0 1
PDE11A 0 0 1 0 0 1
PDE3A 0 0 1 0 0 1
PDE4D 0 0 1 0 0 1
PDGFRA 0 0 1 0 0 1
PDGFRB 0 0 1 0 0 1
PDK3 0 0 1 0 0 1
PEX16 0 1 0 0 0 1
PHIP 0 1 0 0 0 1
PHKG2 0 1 0 0 0 1
PHOX2B 1 0 0 0 0 1
PIEZO2 1 0 0 0 0 1
PIGA 0 0 1 0 0 1
PIGN 0 1 0 0 0 1
PIGO 0 0 1 0 0 1
PIGU 0 0 1 0 0 1
PIK3CA 0 0 1 0 0 1
PIK3R1 0 0 1 0 0 1
PIK3R2 1 0 0 0 0 1
PIKFYVE 0 0 1 0 0 1
PITX2 1 0 0 0 0 1
PJVK 0 1 0 0 0 1
PKD1, TSC2 1 0 0 0 0 1
PLAA 0 0 1 0 0 1
PLCB1 0 0 1 0 0 1
PLD3 0 0 1 0 0 1
PLEKHM2 0 0 1 0 0 1
PLS1 0 0 1 0 0 1
PLS3 0 0 1 0 0 1
PLXND1 0 0 1 0 0 1
PMP22 0 0 1 0 0 1
PMVK 0 0 1 0 0 1
PNPLA2 0 0 1 0 0 1
PNPLA8 0 0 1 0 0 1
POLA1 0 0 1 0 0 1
POLG, POLGARF 0 0 1 0 0 1
POLRMT 0 0 1 0 0 1
POMGNT1, TSPAN1 0 0 1 0 0 1
PORCN 0 0 1 0 0 1
POU3F4 0 1 0 0 0 1
PPM1D 1 0 0 0 0 1
PPP2CA 0 1 0 0 0 1
PPP3CA 0 1 0 0 0 1
PRDM16, PRDM16-DT 0 0 1 0 0 1
PREPL, SLC3A1 0 0 1 0 0 1
PRF1 1 0 0 0 0 1
PRMT7 0 0 1 0 0 1
PRNP 0 0 1 0 0 1
PROKR2 0 0 1 0 0 1
PRPF19 0 0 1 0 0 1
PRPH, TROAP 0 0 1 0 0 1
PRPS1 0 0 1 0 0 1
PRSS1, TRB 1 0 0 0 0 1
PRX 1 0 0 0 0 1
PSAP 1 0 0 0 0 1
PSMC5 0 0 1 0 0 1
PSMD12 0 1 0 0 0 1
PYGM 1 0 0 0 0 1
RAB11B 0 1 0 0 0 1
RAB27A 0 1 0 0 0 1
RAC2 0 0 1 0 0 1
RAD51D 0 1 0 0 0 1
RAD54B 0 0 1 0 0 1
RAPSN 1 0 0 0 0 1
RBM28 0 0 1 0 0 1
REN 0 1 0 0 0 1
REST 0 0 1 0 0 1
RFX3 0 1 0 0 0 1
RFX4 0 0 1 0 0 1
RIC1 0 0 1 0 0 1
RIGI 0 0 1 0 0 1
RIPK1 0 0 1 0 0 1
RIT1 1 0 0 0 0 1
RNASEH2B 1 0 0 0 0 1
RNF125 0 1 0 0 0 1
RNF13 0 1 0 0 0 1
RNF170 1 0 0 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 0 1
ROBO3 0 0 1 0 0 1
RORB 0 1 0 0 0 1
RP1 1 0 0 0 0 1
RP1L1 0 1 0 0 0 1
RPL3L 0 1 0 0 0 1
RPS19 0 0 1 0 0 1
RPS26 1 0 0 0 0 1
RRAGD 0 0 1 0 0 1
RRAS2 0 0 1 0 0 1
RTN4IP1 0 0 1 0 0 1
RUVBL1, SEC61A1 0 1 0 0 0 1
SARS2 0 0 1 0 0 1
SCAF4 0 0 1 0 0 1
SCN11A 0 0 1 0 0 1
SCN3B 0 0 1 0 0 1
SCN9A 0 0 1 0 0 1
SCNN1A 1 0 0 0 0 1
SCNN1B 1 0 0 0 0 1
SCNN1G 0 0 1 0 0 1
SDHD 1 0 0 0 0 1
SEC63 0 0 1 0 0 1
SECISBP2 0 1 0 0 0 1
SELENON 0 1 0 0 0 1
SEMA3E 0 0 1 0 0 1
SEPTIN9 0 0 1 0 0 1
SERAC1 0 1 0 0 0 1
SERPINC1 1 0 0 0 0 1
SERPING1 1 0 0 0 0 1
SETD1B 1 0 0 0 0 1
SETX 0 0 1 0 0 1
SFTPC 0 0 1 0 0 1
SHANK2 1 0 0 0 0 1
SHARPIN 1 0 0 0 0 1
SHOC2 1 0 0 0 0 1
SHROOM4 0 0 1 0 0 1
SIX1 0 0 1 0 0 1
SKIC3 0 0 1 0 0 1
SLC12A2 0 0 1 0 0 1
SLC12A5 0 0 1 0 0 1
SLC16A2 1 0 0 0 0 1
SLC17A8 0 0 1 0 0 1
SLC1A1 0 0 1 0 0 1
SLC1A3 0 0 1 0 0 1
SLC25A13 0 0 1 0 0 1
SLC2A1 0 0 1 0 0 1
SLC2A10 0 1 0 0 0 1
SLC39A7 0 0 1 0 0 1
SLC40A1 0 1 0 0 0 1
SLC4A11 0 0 1 0 0 1
SLC6A19 1 0 0 0 0 1
SLC9A6 1 0 0 0 0 1
SLITRK2 0 0 1 0 0 1
SMAD6 0 0 1 0 0 1
SMAD9 0 1 0 0 0 1
SMARCAD1 0 0 1 0 0 1
SMC1A 1 0 0 0 0 1
SMPD1 1 0 0 0 0 1
SMPD4 0 0 1 0 0 1
SMURF1 0 0 1 0 0 1
SNHG14, UBE3A 0 0 1 0 0 1
SNRPB 0 0 1 0 0 1
SNRPN, SNURF 0 0 1 0 0 1
SOD1 1 0 0 0 0 1
SOS2 0 0 1 0 0 1
SOX2, SOX2-OT 0 1 0 0 0 1
SOX6 0 0 1 0 0 1
SPART 0 0 1 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 1 0 0 0 1
SPEG 0 0 1 0 0 1
SPEN 1 0 0 0 0 1
SPINK1 0 0 1 0 0 1
SRD5A3 1 0 0 0 0 1
ST14 0 1 0 0 0 1
STAG1 0 1 0 0 0 1
STAT5B 0 0 1 0 0 1
STK36 0 0 1 0 0 1
STRC 1 0 0 0 0 1
STS 0 0 1 0 0 1
STUB1 0 0 1 0 0 1
STX1B 0 0 1 0 0 1
SUFU 0 0 1 0 0 1
SURF1 0 0 1 0 0 1
SZT2 0 0 1 0 0 1
TAB2 0 1 0 0 0 1
TAF2 0 0 1 0 0 1
TANGO2 1 0 0 0 0 1
TARDBP 0 0 1 0 0 1
TBC1D23 1 0 0 0 0 1
TBC1D7, TBC1D7-LOC100130357 0 0 1 0 0 1
TBC1D8B 0 0 1 0 0 1
TBL1XR1 0 1 0 0 0 1
TBP 0 0 1 0 0 1
TBX1 0 0 1 0 0 1
TBX18 0 0 1 0 0 1
TBX2 0 0 1 0 0 1
TBX20 0 0 1 0 0 1
TBX22 0 0 1 0 0 1
TBX4 0 0 1 0 0 1
TBX5 1 0 0 0 0 1
TCF12 0 1 0 0 0 1
TCIRG1 0 1 0 0 0 1
TCTN3 0 1 0 0 0 1
TENM4 0 0 1 0 0 1
TET3 0 0 1 0 0 1
TGFB3 0 1 0 0 0 1
TGM5 1 0 0 0 0 1
THOC2 0 0 1 0 0 1
THRA 0 1 0 0 0 1
TIA1 1 0 0 0 0 1
TIMM8A 0 0 1 0 0 1
TK2 0 1 0 0 0 1
TLK2 1 0 0 0 0 1
TMC1 1 0 0 0 0 1
TMEM127 0 1 0 0 0 1
TNNT3 1 0 0 0 0 1
TPRN 1 0 0 0 0 1
TRAPPC6B 0 0 1 0 0 1
TRDN 0 0 1 0 0 1
TRIM2 0 0 1 0 0 1
TRIM63 0 0 1 0 0 1
TRIM71 0 0 1 0 0 1
TRIOBP 1 0 0 0 0 1
TRMU 0 1 0 0 0 1
TRPC3 0 0 1 0 0 1
TRPM6 0 0 1 0 0 1
TRPV3 0 0 1 0 0 1
TRPV4 1 0 0 0 0 1
TSEN34 0 0 1 0 0 1
TSEN54 0 0 1 0 0 1
TSHR 0 0 1 0 0 1
TTBK2 0 0 1 0 0 1
TTC19 0 1 0 0 0 1
TTC21B 0 0 1 0 0 1
TTPA 0 1 0 0 0 1
TUBA1A 0 0 1 0 0 1
TUBB3 0 1 0 0 0 1
TULP1 0 0 1 0 0 1
TWNK 0 0 1 0 0 1
TYMP 0 1 0 0 0 1
TYR 0 0 1 0 0 1
TYRP1 0 1 0 0 0 1
UBE4A 0 0 1 0 0 1
UBIAD1 0 1 0 0 0 1
UBQLN2 0 0 1 0 0 1
UBR4 0 0 1 0 0 1
UMPS 0 0 1 0 0 1
UNC45A 0 0 1 0 0 1
UROC1 0 0 1 0 0 1
VARS2 0 1 0 0 0 1
VDR 0 0 1 0 0 1
VKORC1 0 1 0 0 0 1
VWA1 0 1 0 0 0 1
WARS2 0 0 1 0 0 1
WBP11 0 1 0 0 0 1
WDR11 1 0 0 0 0 1
WDR26 1 0 0 0 0 1
WDR4 0 1 0 0 0 1
WDR45 0 1 0 0 0 1
WDR73 0 0 1 0 0 1
WNT1 0 1 0 0 0 1
WT1 1 0 0 0 0 1
WWOX 0 0 1 0 0 1
XIAP 1 0 0 0 0 1
XK 0 1 0 0 0 1
XPC 0 1 0 0 0 1
XPR1 0 1 0 0 0 1
YEATS2 0 0 1 0 0 1
YY1 0 1 0 0 0 1
ZBTB24 1 0 0 0 0 1
ZDHHC9 0 0 1 0 0 1
ZFHX3 0 1 0 0 0 1
ZFYVE26 0 0 1 0 0 1
ZMIZ1 1 0 0 0 0 1
ZMYND10 1 0 0 0 0 1
ZNF407 0 0 1 0 0 1
ZNF41 0 0 1 0 0 1
ZNF462 0 1 0 0 0 1
ZNF469 0 0 1 0 0 1
ZNF644 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 450
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1136 611 1436 19 0 3202
Incidental Discovery 7 10 17 0 0 34
Neurodevelopmental abnormality 15 11 5 0 0 31
Hypertrophic cardiomyopathy 4 4 9 0 0 17
Primary dilated cardiomyopathy 4 5 6 0 0 15
Familial hypercholesterolemia 3 8 0 0 0 11
Neurofibromatosis, type 1 9 2 0 0 0 11
Cardiomyopathy 1 5 4 0 0 10
Familial cancer of breast 7 2 0 0 0 9
Intellectual disability 2 3 4 0 0 9
Marfan syndrome 4 4 0 0 0 8
Autosomal dominant polycystic kidney disease 5 2 0 0 0 7
Hereditary factor VIII deficiency disease 5 2 0 0 0 7
Lynch syndrome 4 3 0 0 0 7
Polycystic kidney disease 4 2 1 0 0 7
not specified 0 0 1 0 6 7
Ataxia 2 3 1 0 0 6
Dilated cardiomyopathy 1G 1 5 0 0 0 6
Epilepsy 4 0 2 0 0 6
Heart failure 1 1 4 0 0 6
Hereditary breast ovarian cancer syndrome 4 0 2 0 0 6
Hereditary cancer-predisposing syndrome 2 1 3 0 0 6
Polycystic kidney disease, adult type 3 3 0 0 0 6
Seizure 3 1 2 0 0 6
Short stature 1 2 3 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 2 3 1 1 0 0 5
Hypertrophic cardiomyopathy 1 1 3 1 0 0 5
Hypotonia 1 1 3 0 0 5
Primary ciliary dyskinesia 0 2 3 0 0 5
Primary ciliary dyskinesia 7 3 1 1 0 0 5
Primary familial hypertrophic cardiomyopathy 2 1 2 0 0 5
Arrhythmogenic right ventricular cardiomyopathy 0 3 1 0 0 4
Hereditary hemorrhagic telangiectasia 3 1 0 0 0 4
Hypercholesterolemia, familial, 1 1 3 0 0 0 4
Kidney failure 0 0 4 0 0 4
Osteopetrosis 0 0 4 0 0 4
PTEN hamartoma tumor syndrome 2 2 0 0 0 4
Tuberous sclerosis syndrome 4 0 0 0 0 4
X-linked Alport syndrome 3 1 0 0 0 4
Alport syndrome 2 1 0 0 0 3
Autism 1 1 1 0 0 3
Breast cancer, familial male 1 1 1 0 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 2 0 0 0 3
Cerebral cavernous malformation 1 1 1 0 0 3
Epidermolysis bullosa 0 2 1 0 0 3
Fabry disease 3 0 0 0 0 3
Familial adenomatous polyposis 1 2 0 1 0 0 3
Familial cystic renal disease 3 0 0 0 0 3
Familial hypocalciuric hypercalcemia 1 0 2 1 0 0 3
Frontotemporal dementia 1 0 2 0 0 3
Global developmental delay 0 0 3 0 0 3
Hereditary factor IX deficiency disease 2 0 1 0 0 3
Hypercholesterolemia 3 0 0 0 0 3
Long QT syndrome 2 1 0 0 0 3
Lynch syndrome 1 0 3 0 0 0 3
Osteoporosis 0 1 2 0 0 3
Peutz-Jeghers syndrome 1 2 0 0 0 3
RNU4ATAC spectrum disorder 1 2 0 0 0 3
Severe hemophilia A 2 1 0 0 0 3
Spastic paraparesis 0 2 1 0 0 3
Spasticity 1 2 0 0 0 3
Abnormal bleeding 0 1 1 0 0 2
Abnormality of the cardiovascular system 0 0 2 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 0 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 0 2
Autosomal recessive polycystic kidney disease 0 2 0 0 0 2
BBS10-related ciliopathy 2 0 0 0 0 2
Birt-Hogg-Dube syndrome 1 0 1 0 0 2
Breast cancer, susceptibility to 0 0 2 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 5 0 2 0 0 0 2
Brugada syndrome 1 0 1 0 0 2
CDH1-related diffuse gastric and lobular breast cancer syndrome 2 0 0 0 0 2
Carcinoma of colon 1 0 1 0 0 2
Cardiac arrhythmia 0 0 2 0 0 2
Cerebellar ataxia 0 0 2 0 0 2
Colorectal cancer 1 0 1 0 0 2
Congenital heart anomalies 1 0 1 0 0 2
Cowden syndrome 2 0 0 0 0 2
Cystinuria 0 1 1 0 0 2
Developmental and epileptic encephalopathy 94 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 14 1 1 0 0 0 2
Dilated cardiomyopathy 1HH 0 2 0 0 0 2
Disorder of sexual differentiation 1 1 0 0 0 2
Distal arthrogryposis 0 0 2 0 0 2
Familial adenomatous polyposis 2 2 0 0 0 0 2
Familial hypocalciuric hypercalcemia 0 1 1 0 0 2
Fetal akinesia deformation sequence 0 2 0 0 0 2
Gait ataxia 0 0 2 0 0 2
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2 0 0 0 0 2
Hearing impairment 0 1 1 0 0 2
Hereditary spastic paraplegia 0 1 1 0 0 2
Hypercalcemia 0 0 2 0 0 2
Hypertrophic cardiomyopathy 4 0 2 0 0 0 2
Hypogonadotropic hypogonadism 11 with or without anosmia 1 1 0 0 0 2
Idiopathic basal ganglia calcification 1 0 2 0 0 0 2
Joint hypermobility 0 1 1 0 0 2
Lynch syndrome 5 1 1 0 0 0 2
Malignant hyperthermia 2 0 0 0 0 2
Motor Disorders 0 1 1 0 0 2
Multiple endocrine neoplasia type 2A 2 0 0 0 0 2
Multiple endocrine neoplasia, type 1 2 0 0 0 0 2
Myopathy 0 1 1 0 0 2
Nephrogenic diabetes insipidus 1 1 0 0 0 2
Nephrolithiasis 0 0 2 0 0 2
Neurodevelopmental disorder 2 0 0 0 0 2
Osteogenesis imperfecta 1 1 0 0 0 2
Perrault syndrome 4 0 2 0 0 0 2
Polycystic kidney disease 2 2 0 0 0 0 2
Polyglandular autoimmune syndrome, type 1 2 0 0 0 0 2
Primary ciliary dyskinesia 3 0 1 1 0 0 2
Primary hyperparathyroidism 0 1 1 0 0 2
Situs inversus 0 0 2 0 0 2
Skeletal dysplasia 1 1 0 0 0 2
Spastic diplegia 0 1 1 0 0 2
Spastic paraplegia 0 0 2 0 0 2
Spinocerebellar ataxia type 42 0 0 2 0 0 2
Spinocerebellar ataxia, autosomal recessive 33 0 2 0 0 0 2
Sudden cardiac death 0 0 2 0 0 2
Syncope 0 0 2 0 0 2
Triple-negative breast cancer 1 1 0 0 0 2
Ventricular tachycardia 0 2 0 0 0 2
Werner syndrome 1 1 0 0 0 2
4-5 toe syndactyly; Abnormal eye morphology; Basal cell nevi 0 0 1 0 0 1
46,XY sex reversal 6 0 1 0 0 0 1
8q24.3 microdeletion syndrome 1 0 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 0 0 0 1
APC-Associated Polyposis Disorders 1 0 0 0 0 1
Abnormal cardiac output 0 0 1 0 0 1
Abnormal cardiac test 0 1 0 0 0 1
Abnormal cardiac ventricular function 0 0 1 0 0 1
Abnormal cerebral vascular morphology 0 1 0 0 0 1
Abnormal optic nerve morphology 1 0 0 0 0 1
Abnormality of eye movement 1 0 0 0 0 1
Abnormality of skin pigmentation 0 0 1 0 0 1
Abnormality of the digestive system 0 1 0 0 0 1
Abnormality of the musculoskeletal system 0 0 1 0 0 1
Abnormality of the vertebral column 0 1 0 0 0 1
Absent or delayed speech development; Borderline microcephaly; Developmental delay 0 0 1 0 0 1
Acute intermittent porphyria 1 0 0 0 0 1
Acute myeloid leukemia 0 0 1 0 0 1
Adrenoleukodystrophy 1 0 0 0 0 1
Adult hypophosphatasia 1 0 0 0 0 1
Aganglionic megacolon 0 1 0 0 0 1
Al Kaissi syndrome 1 0 0 0 0 1
Alexander disease 0 1 0 0 0 1
Alport syndrome 3b, autosomal recessive 0 1 0 0 0 1
Alzheimer disease 0 1 0 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 0 1
Amyotrophic lateral sclerosis 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 6 1 0 0 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 0 1
Aneurysm-osteoarthritis syndrome 1 0 0 0 0 1
Aortic aneurysm 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 12 0 0 1 0 0 1
Aortic aneurysm, familial thoracic, SMAD3 related 1 0 0 0 0 1
Aortic dissection 1 0 0 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 1 0 0 0 1
Arterial dissection; Thoracic aortic aneurysm 0 0 1 0 0 1
Ataxia-telangiectasia syndrome 0 1 0 0 0 1
Atrial septal defect 7 0 1 0 0 0 1
Atrial septal defect; Abnormal atrioventricular conduction 0 1 0 0 0 1
Autism; Cerebral palsy; Seizure; Developmental delay 0 0 1 0 0 1
Autism; Delayed speech and language development; Intellectual disability 1 0 0 0 0 1
Autism; Intellectual disability 0 0 1 0 0 1
Autism; Motor delay; Seizure; Delayed speech and language development 1 0 0 0 0 1
Autoinflammatory syndrome 0 0 1 0 0 1
Autosomal dominant Alport syndrome 0 1 0 0 0 1
Autosomal dominant epilepsy 0 1 0 0 0 1
Autosomal dominant isolated somatotropin deficiency 1 0 0 0 0 1
Autosomal recessive distal renal tubular acidosis; Renal tubular acidosis with progressive nerve deafness 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84A 0 1 0 0 0 1
Avellino corneal dystrophy 1 0 0 0 0 1
BAP1-related tumor predisposition syndrome 0 1 0 0 0 1
BRCA2-related cancer predisposition 1 0 0 0 0 1
Balance problems; Disturbance in speech; Intention tremor; Vertigo 0 0 1 0 0 1
Benign Rolandic epilepsy 0 1 0 0 0 1
Blue rubber bleb nevus; Ventricular septal defect 1 0 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 0 1
Brooke-Spiegler syndrome 1 0 0 0 0 1
Brugada syndrome 1 0 0 1 0 0 1
CACNA1A-related complex neurodevelopmental disorder 1 0 0 0 0 1
CHARGE syndrome 1 0 0 0 0 1
CHEK2-related cancer predisposition 0 1 0 0 0 1
Cafe au lait spots, multiple 0 0 1 0 0 1
Calf muscle atrophy 0 0 1 0 0 1
Capillary malformation-arteriovenous malformation 1 0 1 0 0 0 1
Capillary malformation-arteriovenous malformation syndrome 1 0 0 0 0 1
Cardiac hypertrophy 0 0 1 0 0 1
Cardiomyopathy, dilated, and heart failure 0 0 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 1 0 0 0 0 1
Cerebral calcification 1 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2E 0 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2KK 0 1 0 0 0 1
Charcot-Marie-tooth disease, axonal, type 2DD 0 1 0 0 0 1
Childhood kidney Wilms tumor 0 0 1 0 0 1
Childhood onset sensorineural hearing impairment 0 0 1 0 0 1
Chromosome 3q29 microdeletion syndrome 1 0 0 0 0 1
Cleidocranial dysostosis 1 0 0 0 0 1
Coffin-Lowry syndrome 1 0 0 0 0 1
Coffin-Siris syndrome 0 1 0 0 0 1
Coffin-Siris syndrome 12 0 1 0 0 0 1
Cognitive impairment 1 0 0 0 0 1
Collagen IV-related nephropathies 0 0 1 0 0 1
Colon cancer 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 1 0 1 0 0 0 1
Cone-rod synaptic disorder, congenital nonprogressive 0 1 0 0 0 1
Congenital diaphragamitc hernia 0 0 1 0 0 1
Congenital disorder of deglycosylation 1 1 0 0 0 0 1
Congenital hydrocephalus 0 1 0 0 0 1
Congenital myasthenic syndrome 1 0 0 0 0 1
Congenital myopathy 1 0 0 0 0 1
Congenital myotonia, autosomal dominant form 0 1 0 0 0 1
Connective and Soft Tissue Disorder 0 1 0 0 0 1
Constipation 1 0 0 0 0 1
Constitutional mismatch repair deficiency syndrome 0 1 0 0 0 1
Corneal dystrophy 1 0 0 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 1
Coronary artery dissection 0 0 1 0 0 1
Cutaneous leiomyoma 0 1 0 0 0 1
Dandy-Walker malformation 1 0 0 0 0 1
Dementia 1 0 0 0 0 1
Developmental and epileptic encephalopathy 93 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 19 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 26 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 62 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 8 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 87 0 1 0 0 0 1
Developmental delay 1 0 0 0 0 1
Diabetes insipidus, nephrogenic, X-linked 0 1 0 0 0 1
Diamond-Blackfan anemia 10 1 0 0 0 0 1
Dilated aortic root 1 0 0 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 0 1
Dilated cardiomyopathy 1DD 1 0 0 0 0 1
Dilated cardiomyopathy 3B 0 1 0 0 0 1
Distal spinal muscular atrophy 1 0 0 0 0 1
Distichiasis-lymphedema syndrome 0 1 0 0 0 1
Duchenne muscular dystrophy 1 0 0 0 0 1
Dysarthria 0 0 1 0 0 1
Dystonic disorder 0 0 1 0 0 1
Ehlers-Danlos syndrome 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type, 1 0 1 0 0 0 1
Elevated circulating creatine kinase concentration 0 1 0 0 0 1
Epilepsy with generalized tonic-clonic seizures 0 0 1 0 0 1
Epilepsy, early-onset, 3, with or without developmental delay 0 0 1 0 0 1
Epiphyseal dysplasia, multiple, 2 0 1 0 0 0 1
Episodic ataxia type 2 0 1 0 0 0 1
Erythrocytosis, familial, 3 0 1 0 0 0 1
Esophageal atresia 0 1 0 0 0 1
Ethylmalonic encephalopathy 0 1 0 0 0 1
Ewing sarcoma 0 0 1 0 0 1
Fabry disease, cardiac variant 0 1 0 0 0 1
Factor XIII, A subunit, deficiency of 1 0 0 0 0 1
Failure to thrive 0 0 1 0 0 1
Familial Mediterranean fever 0 0 1 0 0 1
Familial aortopathy 0 0 1 0 0 1
Familial hypocalciuric hypercalcemia 3 1 0 0 0 0 1
Familial hypokalemia-hypomagnesemia 0 1 0 0 0 1
Familial melanoma 0 1 0 0 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 1
Febrile seizures, familial 0 0 1 0 0 1
Feingold syndrome 0 1 0 0 0 1
Fetal anomaly 0 0 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 1 0 0 0 1
Frontotemporal dementia; Ataxia 0 1 0 0 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 0 0 1 0 0 1
Galloway-Mowat syndrome 6 0 1 0 0 0 1
Gastric adenocarcinoma and proximal polyposis of the stomach 0 1 0 0 0 1
Gastric cancer 0 0 1 0 0 1
Generalized hypotonia 0 0 1 0 0 1
Glucocorticoid deficiency with achalasia 1 0 0 0 0 1
Glycogen storage disease, type II 0 1 0 0 0 1
Gnb5-related intellectual disability-cardiac arrhythmia syndrome 0 1 0 0 0 1
Gorlin syndrome 1 0 0 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 1 0 0 0 0 1
Greig cephalopolysyndactyly syndrome 1 0 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 0 0 1
HTRA1-related autosomal dominant cerebral small vessel disease 1 0 0 0 0 1
Hearing loss 0 0 1 0 0 1
Heart, malformation of 0 1 0 0 0 1
Hereditary combined deficiency of vitamin K-dependent clotting factors 0 1 0 0 0 1
Hereditary leiomyomatosis and renal cell cancer 0 1 0 0 0 1
Hereditary lymphedema type I 0 1 0 0 0 1
Hereditary pulmonary alveolar proteinosis 0 1 0 0 0 1
Hereditary spastic paraplegia 30 0 0 1 0 0 1
Hypercalcemia, infantile, 1 1 0 0 0 0 1
Hyperekplexia 1 1 0 0 0 0 1
Hyperlipidemia 1 0 0 0 0 1
Hyperpigmentation of the skin 0 1 0 0 0 1
Hypertrophic cardiomyopathy 7 0 1 0 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 0 0 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 0 0 1
Hypokalemia 0 1 0 0 0 1
Hypoparathyroidism, familial isolated, 2 0 0 1 0 0 1
Hypophosphatasia 1 0 0 0 0 1
Hypoplastic left heart syndrome 0 0 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 0 1 0 0 1
Ichthyosis vulgaris 1 0 0 0 0 1
Idiopathic spontaneous coronary artery dissection 0 0 1 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 1 0 0 0 0 1
Increased susceptibility to fractures 0 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 1 0 0 0 1
Intellectual developmental disorder, autosomal recessive 78 1 0 0 0 0 1
Intellectual disability, X-linked 104 0 1 0 0 0 1
Intellectual disability, X-linked 93 0 1 0 0 0 1
Intellectual disability, autosomal dominant 56 0 1 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 0 1
Intellectual disability; Magnetic resonance imaging of brain abnormal 0 0 1 0 0 1
Interstitial lung disease 2 0 0 1 0 0 1
Intestinal pseudo-obstruction 0 1 0 0 0 1
Intracranial hemorrhage 0 1 0 0 0 1
Ketotic hypoglycemia 0 0 1 0 0 1
L-2-hydroxyglutaric aciduria 1 0 0 0 0 1
Lactic acidosis 1 0 0 0 0 1
Larsen syndrome 1 0 0 0 0 1
Leri-Weill dyschondrosteosis 0 1 0 0 0 1
Leukodystrophy 1 0 0 0 0 1
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 1 0 0 0 0 1
Li-Fraumeni syndrome 1 0 1 0 0 0 1
Limb ataxia 0 1 0 0 0 1
Limb muscle weakness 1 0 0 0 0 1
Lissencephaly 0 1 0 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 1
Long QT syndrome 1 0 1 0 0 0 1
Long QT syndrome 2 0 1 0 0 0 1
Long QT syndrome 5 0 1 0 0 0 1
Long QT syndrome; Paroxysmal atrial fibrillation 0 1 0 0 0 1
Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 0 0 1 0 0 1
Lynch syndrome 4 0 1 0 0 0 1
Macrocephaly at birth 1 0 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 0 1 0 0 1
Malignant tumor of breast 0 1 0 0 0 1
Mandibulofacial dysostosis 1 0 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 1
Medulloblastoma 0 1 0 0 0 1
Megacolon 1 0 0 0 0 1
Metachromatic leukodystrophy 1 0 0 0 0 1
Microcephaly 5, primary, autosomal recessive 1 0 0 0 0 1
Micrognathia 0 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 0 0 0 0 1
Migraine, familial hemiplegic, 1 1 0 0 0 0 1
Mild global developmental delay 0 0 1 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 1 0 0 0 0 1
Moderately severe hemophilia B 1 0 0 0 0 1
Motor delay 0 0 1 0 0 1
Motor delay; Feeding difficulties in infancy; Hypotonia 0 1 0 0 0 1
Motor delay; Tall stature; Delayed speech and language development; Developmental delay 0 0 1 0 0 1
Motor neuron disease 0 0 1 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Myoclonus, intractable, neonatal 0 1 0 0 0 1
Myopathy, proximal, and ophthalmoplegia 1 0 0 0 0 1
Myopia 0 0 1 0 0 1
Nasal polyposis 0 0 1 0 0 1
Nephrocalcinosis 0 1 0 0 0 1
Nephrolithiasis/nephrocalcinosis 0 0 1 0 0 1
Neurodegeneration 1 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 0 0 0 0 1
Neurofibromatosis 0 1 0 0 0 1
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 9 0 1 0 0 0 1
Niemann-Pick disease, type C2 0 1 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 1
Noonan syndrome 3 0 1 0 0 0 1
Noonan syndrome 7 1 0 0 0 0 1
Nystagmus; Ataxia 0 0 1 0 0 1
Ocular albinism 0 1 0 0 0 1
Oculocutaneous albinism type 3 0 1 0 0 0 1
Odontohypophosphatasia 1 0 0 0 0 1
Optic atrophy 1 0 0 0 0 1
Orofaciodigital syndrome I 0 1 0 0 0 1
Osteogenesis imperfecta type I 1 0 0 0 0 1
Overgrowth 0 0 1 0 0 1
PAX6-Related Aniridia 1 0 0 0 0 1
PCWH syndrome 1 0 0 0 0 1
Palmoplantar keratoderma, punctate type 1A 1 0 0 0 0 1
Pancreatitis, chronic, susceptibility to 0 1 0 0 0 1
Paraganglioma 0 0 1 0 0 1
Partial androgen insensitivity syndrome 0 1 0 0 0 1
Pectus excavatum; Abnormal palate morphology; Abnormal aortic morphology; Proportionate tall stature; Long fingers 0 1 0 0 0 1
Pectus excavatum; Tall stature; Positive thumb sign 0 0 1 0 0 1
Peripheral neuropathy 0 0 1 0 0 1
Peroxisome biogenesis disorder 4A (Zellweger) 1 0 0 0 0 1
Perry syndrome 0 0 1 0 0 1
Pheochromocytoma/paraganglioma syndrome 3 0 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 1 0 0 0 0 1
Pheochromocytoma; Paraganglioma 1 0 0 0 0 1
Piebaldism 0 1 0 0 0 1
Platelet-type bleeding disorder 17 0 1 0 0 0 1
Primary ciliary dyskinesia 21 1 0 0 0 0 1
Primary ciliary dyskinesia 30 1 0 0 0 0 1
Primary hyperoxaluria 1 0 0 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 0 1
Progressive familial heart block, type 1A 0 0 1 0 0 1
Progressive muscle weakness 0 1 0 0 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 0 1
Progressive spasticity; Spastic hemiparesis 0 0 1 0 0 1
Protein S deficiency disease 0 1 0 0 0 1
Proteinuria 0 0 1 0 0 1
Proximal muscle weakness 0 0 1 0 0 1
Pseudohypoaldosteronism type 2D 1 0 0 0 0 1
Ptosis 0 0 1 0 0 1
RAD51C-related cancer predisposition 1 0 0 0 0 1
Rauch-Steindl syndrome 1 0 0 0 0 1
Recurrent fever 1 0 0 0 0 1
Refractory epilepsy; Developmental delay 0 0 1 0 0 1
Renal cell carcinoma 0 0 1 0 0 1
Renal tubular acidosis with progressive nerve deafness 1 0 0 0 0 1
Rhabdomyoma 0 1 0 0 0 1
SATB2 associated disorder 0 1 0 0 0 1
SDHB-related disorder 1 0 0 0 0 1
Sandhoff disease 1 0 0 0 0 1
Sharpin-related autoinflammatory syndrome 1 0 0 0 0 1
Skeletal dysplasia, mild, with joint laxity and advanced bone age 0 1 0 0 0 1
Slurred speech; Limb ataxia 0 0 1 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 1
Sotos syndrome 1 0 0 0 0 1
Spastic paraplegia 85, autosomal recessive 1 0 0 0 0 1
Spermatogenic failure 80 0 1 0 0 0 1
Spherocytosis 0 1 0 0 0 1
Spinocerebellar ataxia type 13 1 0 0 0 0 1
Spinocerebellar ataxia type 14 0 0 1 0 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 0 0 0 1
Steroid-resistant nephrotic syndrome 0 0 1 0 0 1
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 1 0 0 0 1
Tall stature 0 1 0 0 0 1
Tall stature; Joint laxity; Allergy 0 1 0 0 0 1
Telangiectasia 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2 1 0 0 0 0 1
Tetralogy of Fallot 0 1 0 0 0 1
Thoracic aortic aneurysm 0 0 1 0 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 1 0 0 0 1
Thyroid hormone resistance, generalized, autosomal dominant 0 1 0 0 0 1
Vanishing white matter disease 0 1 0 0 0 1
Williams syndrome 1 0 0 0 0 1
XK-related neurodegenerative disease 0 1 0 0 0 1
Xeroderma pigmentosum 0 1 0 0 0 1

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