ClinVar Miner

Variants from GeneReviews

Location: United States — Primary collection method: curation
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 association protective risk factor other not provided total
5384 65 228 9 390 8 1 1 2 1 6085

Gene and significance breakdown #

Total genes and gene combinations: 743
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association protective risk factor other not provided total
KCNQ2 172 0 0 0 5 0 0 0 0 0 177
LRRK2 15 0 127 0 0 0 0 0 0 0 142
GNPTAB 120 0 0 0 0 0 0 0 0 0 120
OFD1 112 0 0 0 5 0 0 0 0 0 117
GFAP 110 0 0 0 0 0 0 0 0 0 110
SPG11 97 0 0 0 7 0 0 0 0 0 104
ASPM 79 0 0 0 22 0 0 0 0 0 101
OTOF 65 0 0 0 23 7 0 0 0 0 95
DEPDC5 50 0 19 0 0 0 0 0 0 0 69
AIP 7 48 3 9 0 0 0 0 0 0 67
RYR1 61 0 0 0 4 0 0 0 0 0 65
CYP27A1 55 0 0 0 7 0 0 0 0 0 62
TRPV4 49 0 0 0 3 0 0 0 0 0 52
ATP1A3 51 0 0 0 0 0 0 0 0 0 51
TYMP 46 0 0 0 3 0 0 0 0 0 49
​intergenic 42 0 1 0 4 0 0 0 0 0 47
CP 43 0 0 0 0 0 0 0 0 0 43
CSF1R 43 0 0 0 0 0 0 0 0 0 43
LYST 41 0 0 0 0 0 0 0 0 0 41
CLCN2 18 1 20 0 0 0 0 0 0 0 39
DKC1 38 0 0 0 0 0 0 0 0 0 38
RRM2B 36 0 0 0 0 0 0 0 0 0 36
SCN8A 35 0 1 0 0 0 0 0 0 0 36
TRPS1 36 0 0 0 0 0 0 0 0 0 36
SCO2, TYMP 28 0 0 0 7 0 0 0 0 0 35
BLM 34 0 0 0 0 0 0 0 0 0 34
TERT 29 0 0 0 5 0 0 0 0 0 34
CPT1A 33 0 0 0 0 0 0 0 0 0 33
CYP4V2 33 0 0 0 0 0 0 0 0 0 33
HBB, LOC106099062, LOC107133510 33 0 0 0 0 0 0 0 0 0 33
FGFR3 32 0 0 0 0 0 0 0 0 0 32
SHH 25 0 0 0 7 0 0 0 0 0 32
TK2 32 0 0 0 0 0 0 0 0 0 32
TUBB4A 32 0 0 0 0 0 0 0 0 0 32
ATM 31 0 0 0 0 0 0 0 0 0 31
LMNA 31 0 0 0 0 0 0 0 0 0 31
MMUT 26 0 0 0 5 0 0 0 0 0 31
SLC52A3 31 0 0 0 0 0 0 0 0 0 31
GLI3 30 0 0 0 0 0 0 0 0 0 30
FLNB 29 0 0 0 0 0 0 0 0 0 29
GJB2 28 0 0 0 1 0 0 0 0 0 28
CLCN1 27 0 0 0 0 0 0 0 0 0 27
ESCO2 26 0 0 0 1 0 0 0 0 0 27
HPS1 23 0 0 0 4 0 0 0 0 0 27
PRKAR1A 27 0 0 0 0 0 0 0 0 0 27
KCNJ11 26 0 0 0 0 0 0 0 0 0 26
MCOLN1 26 0 0 0 0 0 0 0 0 0 26
MPZ 26 0 0 0 0 0 0 0 0 0 26
FERMT1 25 0 0 0 0 0 0 0 0 0 25
FOXP2 25 0 0 0 0 0 0 0 0 0 25
PRKCG 25 0 0 0 0 0 0 0 0 0 25
ETHE1 24 0 0 0 0 0 0 0 0 0 24
CHD2 23 0 0 0 0 0 0 0 0 0 23
CPT2 20 0 0 0 3 0 0 0 0 0 23
GH-LCR, SCN4A 21 0 0 0 2 0 0 0 0 0 23
MHRT, MYH7 20 0 0 0 3 0 0 0 0 0 23
TERC 23 0 0 0 0 0 0 0 0 0 23
TFR2 15 0 0 0 8 0 0 0 0 0 23
USB1 23 0 0 0 0 0 0 0 0 0 23
GLRA1 22 0 0 0 0 0 0 0 0 0 22
PRNP 18 0 0 0 4 0 0 0 0 0 22
SAMHD1 21 0 0 0 0 0 0 0 0 0 21
SH3TC2 21 0 0 0 0 0 0 0 0 0 21
CLCN5 19 2 0 0 0 0 0 0 0 0 20
CLPB 20 0 0 0 0 0 0 0 0 0 20
MPV17 20 0 0 0 0 0 0 0 0 0 20
SCARB2 20 0 0 0 0 0 0 0 0 0 20
SLC2A10 20 0 0 0 0 0 0 0 0 0 20
PYGL 19 0 0 0 0 0 0 0 0 0 19
TTN 18 0 1 0 0 0 0 0 0 0 19
CDK5RAP2 2 0 0 0 16 0 0 0 0 0 18
COMP 17 0 0 0 1 0 0 0 0 0 18
COQ8A 18 0 0 0 0 0 0 0 0 0 18
AGPAT2 17 0 0 0 0 0 0 0 0 0 17
ALS2 17 0 0 0 0 0 0 0 0 0 17
ATRIP, ATRIP-TREX1, TREX1 17 0 0 0 0 0 0 0 0 0 17
GALT 11 0 0 0 6 0 0 0 0 0 17
GBA, LOC106627981 17 0 0 0 0 0 0 0 0 0 17
GNPTG 17 0 0 0 0 0 0 0 0 0 17
POLG 9 0 0 0 8 0 0 0 0 0 17
POLR3A 17 0 0 0 0 0 0 0 0 0 17
SLC25A15 17 0 0 0 0 0 0 0 0 0 17
TINF2 17 0 0 0 0 0 0 0 0 0 17
EHMT1 16 0 0 0 0 0 0 0 0 0 16
MEFV 15 0 1 0 0 0 0 0 0 0 16
MYH9 14 0 0 0 2 0 0 0 0 0 16
PC 11 0 0 0 5 0 0 0 0 0 16
SLC25A13 16 0 0 0 0 0 0 0 0 0 16
TARDBP 13 0 3 0 0 0 0 0 0 0 16
TGFB1 11 0 0 0 5 0 0 0 0 0 16
TTPA 16 0 0 0 0 0 0 0 0 0 16
ARSA 13 0 0 0 2 0 0 0 0 0 15
BBS4 4 0 0 0 11 0 0 0 0 0 15
BSCL2, HNRNPUL2-BSCL2 15 0 0 0 0 0 0 0 0 0 15
CTNS 15 0 0 0 0 0 0 0 0 0 15
CYP21A2, LOC106780800 11 0 0 0 4 0 0 0 0 0 15
INS, INS-IGF2 15 0 0 0 0 0 0 0 0 0 15
MMAA 15 0 0 0 0 0 0 0 0 0 15
PCCB 13 0 0 0 2 0 0 0 0 0 15
SLC30A10 15 0 0 0 0 0 0 0 0 0 15
BRAF 14 0 0 0 0 0 0 0 0 0 14
GJB1 14 0 0 0 0 0 0 0 0 0 14
PSEN1 14 0 0 0 0 0 0 0 0 0 14
SERPINA1 13 0 0 0 1 0 0 0 0 0 14
SLC52A2 14 0 0 0 0 0 0 0 0 0 14
ABCC8 13 0 0 0 0 0 0 0 0 0 13
ACADVL 6 0 0 0 7 0 0 0 0 0 13
AGXT 11 0 0 0 2 0 0 0 0 0 13
CSTB 13 0 0 0 0 0 0 0 0 0 13
DBH 8 0 0 0 5 0 0 0 0 0 13
DCC 8 0 5 0 0 0 0 0 0 0 13
GBE1 13 0 0 0 0 0 0 0 0 0 13
MT-ND1 12 0 1 0 0 0 0 0 0 0 13
NBN 12 0 0 0 0 0 0 0 0 1 13
NPC1 8 0 0 0 5 0 0 0 0 0 13
PYGM 8 0 0 0 5 0 0 0 0 0 13
SATB2 13 0 0 0 0 0 0 0 0 0 13
SBDS 9 0 0 0 4 0 0 0 0 0 13
SMPD1 11 0 0 0 2 0 0 0 0 0 13
VPS35 1 0 12 0 0 0 0 0 0 0 13
AFG3L2 12 0 0 0 0 0 0 0 0 0 12
ASS1 12 0 0 0 0 0 0 0 0 0 12
ATL1 7 0 0 0 5 0 0 0 0 0 12
DHCR7 12 0 0 0 0 0 0 0 0 0 12
FOXL2 11 0 0 0 1 0 0 0 0 0 12
GATA1 12 0 0 0 0 0 0 0 0 0 12
GNAS 12 0 0 0 0 0 0 0 0 0 12
HGD 12 0 0 0 0 0 0 0 0 0 12
LRP2 12 0 0 0 0 0 0 0 0 0 12
PMM2 12 0 0 0 0 0 0 0 0 0 12
PTPN11 12 0 0 0 0 0 0 0 0 0 12
SLC46A1 12 0 0 0 0 0 0 0 0 0 12
TPM3 12 0 0 0 0 0 0 0 0 0 12
ACTB 11 0 0 0 0 0 0 0 0 0 11
ATM, C11orf65 11 0 0 0 0 0 0 0 0 0 11
ATP6V0A2 9 0 0 0 2 0 0 0 0 0 11
COL4A1 11 0 0 0 0 0 0 0 0 0 11
COQ8B 11 0 0 0 0 0 0 0 0 0 11
HBB, LOC107133510, LOC110006319 11 0 0 0 0 0 0 0 0 0 11
IDUA 10 0 0 0 1 0 0 0 0 0 11
MED12 11 0 0 0 0 0 0 0 0 0 11
MMAB 11 0 0 0 0 0 0 0 0 0 11
MT-ND6 11 0 0 0 0 0 0 0 0 0 11
MUTYH 11 0 0 0 0 0 0 0 0 0 11
OCRL 9 2 0 0 0 0 0 0 0 0 11
PRSS1, TRB 11 0 0 0 0 0 0 0 0 0 11
RNASEH2A 11 0 0 0 0 0 0 0 0 0 11
SLC12A5 11 0 0 0 0 0 0 0 0 0 11
TUBB3 11 0 0 0 0 0 0 0 0 0 11
VCAN 11 0 0 0 0 0 0 0 0 0 11
CDAN1 6 0 0 0 4 0 0 0 0 0 10
DCTN1 10 0 0 0 0 0 0 0 0 0 10
HPS4 10 0 0 0 0 0 0 0 0 0 10
KCNA1 8 0 0 0 2 0 0 0 0 0 10
MESP2 7 0 0 0 3 0 0 0 0 0 10
MT-ATP6 10 0 0 0 0 0 0 0 0 0 10
MYO7A 9 1 0 0 0 0 0 0 0 0 10
NOTCH2 10 0 0 0 0 0 0 0 0 0 10
NPC2 10 0 0 0 0 0 0 0 0 0 10
OPA1 10 0 0 0 0 0 0 0 0 0 10
PEX7 10 0 0 0 0 0 0 0 0 0 10
SCN1A, SCN9A 9 0 0 0 1 0 0 0 0 0 10
SLC26A2 8 0 0 0 2 0 0 0 0 0 10
SLC6A5 10 0 0 0 0 0 0 0 0 0 10
STXBP1 10 0 0 0 0 0 0 0 0 0 10
TFAP2B 8 0 0 0 2 0 0 0 0 0 10
TOR1A 1 0 8 0 0 0 1 0 0 0 10
UROS 10 0 0 0 0 0 0 0 0 0 10
AGL 9 0 0 0 0 0 0 0 0 0 9
AGRN 9 0 0 0 0 0 0 0 0 0 9
CEBPA 6 0 0 0 3 0 0 0 0 0 9
CENPJ 2 0 0 0 7 0 0 0 0 0 9
COQ2 9 0 0 0 0 0 0 0 0 0 9
CRLF1 7 0 0 0 2 0 0 0 0 0 9
EFEMP2 8 0 0 0 1 0 0 0 0 0 9
FAH 9 0 0 0 0 0 0 0 0 0 9
GALE 9 0 0 0 0 0 0 0 0 0 9
HTRA1 9 0 0 0 0 0 0 0 0 0 9
KCNJ18 9 0 0 0 0 0 0 0 0 0 9
KCNQ3 8 0 0 0 1 0 0 0 0 0 9
LOC110806306, TERC 9 0 0 0 0 0 0 0 0 0 9
MLC1 5 0 0 0 4 0 0 0 0 0 9
PMP22 9 0 0 0 0 0 0 0 0 0 9
SCN4A 8 0 0 0 2 0 0 0 0 0 9
STIL 3 0 0 0 6 0 0 0 0 0 9
ALK 8 0 0 0 0 0 0 0 0 0 8
ALPL 5 0 0 0 3 0 0 0 0 0 8
APRT 7 0 0 0 1 0 0 0 0 0 8
CDC73 2 0 0 0 6 0 0 0 0 0 8
DVL1 8 0 0 0 0 0 0 0 0 0 8
EGR2 8 0 0 0 0 0 0 0 0 0 8
FGF3 8 0 0 0 0 0 0 0 0 0 8
HBA2, LOC106804612 8 0 0 0 0 0 0 0 0 0 8
KCNQ4 6 0 2 0 0 0 0 0 0 0 8
LITAF 8 0 0 0 0 0 0 0 0 0 8
MT-ND5 7 0 1 0 0 0 0 0 0 0 8
NEFL 8 0 0 0 0 0 0 0 0 0 8
NKX6-2 8 0 0 0 0 0 0 0 0 0 8
NTRK1 6 0 0 0 2 0 0 0 0 0 8
PAFAH1B1 6 0 0 0 2 0 0 0 0 0 8
POLR3B 8 0 0 0 0 0 0 0 0 0 8
RAB3GAP1 8 0 0 0 0 0 0 0 0 0 8
SLC16A2 6 0 0 0 2 0 0 0 0 0 8
SLC39A14 8 0 0 0 0 0 0 0 0 0 8
SMS 8 0 0 0 0 0 0 0 0 0 8
TXNL4A 8 0 0 0 0 0 0 0 0 0 8
WDR35 8 0 0 0 0 0 0 0 0 0 8
WNK4 8 0 0 0 0 0 0 0 0 0 8
ACTA1 7 0 0 0 0 0 0 0 0 0 7
AIPL1 7 0 0 0 0 0 0 0 0 0 7
ALDOB 7 0 0 0 0 0 0 0 0 0 7
ANO5 7 0 0 0 0 0 0 0 0 0 7
CACNA1S 7 0 0 0 0 0 0 0 0 0 7
CCND2 7 0 0 0 0 0 0 0 0 0 7
CCNO 7 0 0 0 0 0 0 0 0 0 7
CDKN1C 7 0 0 0 0 0 0 0 0 0 7
CHMP2B 6 0 1 0 0 0 0 0 0 0 7
CHRNB2 7 0 0 0 0 0 0 0 0 0 7
COQ6, ENTPD5 7 0 0 0 0 0 0 0 0 0 7
FGFR1 7 0 0 0 0 0 0 0 0 0 7
FLNA 7 0 0 0 0 0 0 0 0 0 7
G6PC 7 0 0 0 0 0 0 0 0 0 7
HPS5 7 0 0 0 0 0 0 0 0 0 7
IDUA, SLC26A1 5 0 0 0 2 0 0 0 0 0 7
IGHMBP2 7 0 0 0 0 0 0 0 0 0 7
LGI1 7 0 0 0 0 0 0 0 0 0 7
MCPH1 4 0 0 0 3 0 0 0 0 0 7
MMADHC 7 0 0 0 0 0 0 0 0 0 7
NSDHL 7 0 0 0 0 0 0 0 0 0 7
PAH 7 0 0 0 0 0 0 0 0 0 7
PIK3R1 7 0 0 0 0 0 0 0 0 0 7
SIX3 4 0 0 0 3 0 0 0 0 0 7
SLC26A4 7 0 0 0 0 0 0 0 0 0 7
SMAD4 7 0 0 0 0 0 0 0 0 0 7
SPINK1 7 0 0 0 0 0 0 0 0 0 7
TP63 7 0 0 0 0 0 0 0 0 0 7
TRIO 7 0 0 0 0 0 0 0 0 0 7
WRN 6 0 1 0 0 0 0 0 0 0 7
ACTG1 6 0 0 0 0 0 0 0 0 0 6
AR, LOC109504725 2 0 1 0 2 0 0 1 0 0 6
ARSE 6 0 0 0 0 0 0 0 0 0 6
ATXN10, LOC107181287, LOC108660404 5 0 0 0 1 0 0 0 0 0 6
CACNA1C 6 0 0 0 0 0 0 0 0 0 6
CFTR 3 0 0 0 3 0 0 0 0 0 6
CHCHD10 6 0 0 0 0 0 0 0 0 0 6
COQ4 6 0 0 0 0 0 0 0 0 0 6
CPLANE1 6 0 0 0 0 0 0 0 0 0 6
ECM1 6 0 0 0 0 0 0 0 0 0 6
EPB42 6 0 0 0 0 0 0 0 0 0 6
FAM111B 6 0 0 0 0 0 0 0 0 0 6
FBLN5 5 0 0 0 1 0 0 0 0 0 6
FGD4 6 0 0 0 0 0 0 0 0 0 6
FMO3 4 1 0 0 0 0 0 0 1 0 6
G6PC3 6 0 0 0 0 0 0 0 0 0 6
GCK 6 0 0 0 0 0 0 0 0 0 6
GNE 6 0 0 0 0 0 0 0 0 0 6
IFT122 6 0 0 0 0 0 0 0 0 0 6
KANSL1 6 0 0 0 0 0 0 0 0 0 6
KCNJ2 6 0 0 0 0 0 0 0 0 0 6
LPIN2 4 0 0 0 2 0 0 0 0 0 6
LRRC6 6 0 0 0 0 0 0 0 0 0 6
MKKS 2 0 0 0 4 0 0 0 0 0 6
MYH7 6 0 0 0 0 0 0 0 0 0 6
NOTCH3 6 0 0 0 0 0 0 0 0 0 6
OPA3 5 0 0 0 1 0 0 0 0 0 6
PCCA 5 0 0 0 1 0 0 0 0 0 6
POLH 6 0 0 0 0 0 0 0 0 0 6
PRPS1 4 0 0 0 2 0 0 0 0 0 6
RSPH1 6 0 0 0 0 0 0 0 0 0 6
SDHD 6 0 0 0 0 0 0 0 0 0 6
SIX1 6 0 0 0 0 0 0 0 0 0 6
SLC12A6 6 0 0 0 0 0 0 0 0 0 6
SP110, SP140 6 0 0 0 0 0 0 0 0 0 6
SUMF1 6 0 0 0 0 0 0 0 0 0 6
SUOX 6 0 0 0 0 0 0 0 0 0 6
TREM2 6 0 0 0 0 0 0 0 0 0 6
ADAMTSL2 5 0 0 0 0 0 0 0 0 0 5
ADCY5 5 0 0 0 0 0 0 0 0 0 5
AP3B1 5 0 0 0 0 0 0 0 0 0 5
ATP8B1 5 0 0 0 0 0 0 0 0 0 5
BTD 5 0 0 0 0 0 0 0 0 0 5
CHRNA4 5 0 0 0 0 0 0 0 0 0 5
CTRC 4 0 0 0 0 1 0 0 0 0 5
EPOR 2 0 3 0 0 0 0 0 0 0 5
FAM126A 4 0 0 0 1 0 0 0 0 0 5
FANCG 5 0 0 0 0 0 0 0 0 0 5
FH 5 0 0 0 0 0 0 0 0 0 5
GAA 5 0 0 0 0 0 0 0 0 0 5
GAMT 3 0 0 0 2 0 0 0 0 0 5
GRIN2A 5 0 0 0 0 0 0 0 0 0 5
IL2RG 5 0 0 0 0 0 0 0 0 0 5
KRT6A 5 0 0 0 0 0 0 0 0 0 5
LAMA2 5 0 0 0 0 0 0 0 0 0 5
LTBP4 1 0 0 0 4 0 0 0 0 0 5
MAN2B1 5 0 0 0 0 0 0 0 0 0 5
MT-CO1, MT-TS1 5 0 0 0 0 0 0 0 0 0 5
MT-ND3 5 0 0 0 0 0 0 0 0 0 5
MT-ND4 5 0 0 0 0 0 0 0 0 0 5
MT-TS1 5 0 0 0 0 0 0 0 0 0 5
MTTP 5 0 0 0 0 0 0 0 0 0 5
NHLRC1 5 0 0 0 0 0 0 0 0 0 5
PCDH15 5 0 0 0 0 0 0 0 0 0 5
PCSK9 5 0 0 0 0 0 0 0 0 0 5
PIK3CA 5 0 0 0 0 0 0 0 0 0 5
PRX 5 0 0 0 0 0 0 0 0 0 5
PURA 5 0 0 0 0 0 0 0 0 0 5
RELN 5 0 0 0 0 0 0 0 0 0 5
RETREG1 3 0 0 0 2 0 0 0 0 0 5
RSPH4A 5 0 0 0 0 0 0 0 0 0 5
SCN9A 3 0 0 0 2 0 0 0 0 0 5
STAT3 5 0 0 0 0 0 0 0 0 0 5
TSC2 5 0 0 0 0 0 0 0 0 0 5
TWNK 5 0 0 0 0 0 0 0 0 0 5
USH2A 3 2 0 0 0 0 0 0 0 0 5
WNK1 5 0 0 0 0 0 0 0 0 0 5
ZIC2 5 0 0 0 0 0 0 0 0 0 5
ABCB7 4 0 0 0 0 0 0 0 0 0 4
ADNP 3 0 0 0 1 0 0 0 0 0 4
APC 3 0 0 0 1 0 0 0 0 0 4
APP 4 0 0 0 0 0 0 0 0 0 4
ASAH1 4 0 0 0 0 0 0 0 0 0 4
C19orf12 4 0 0 0 0 0 0 0 0 0 4
CAPN3 4 0 0 0 0 0 0 0 0 0 4
CASQ2 4 0 0 0 0 0 0 0 0 0 4
CDH23 2 2 0 0 0 0 0 0 0 0 4
CLCF1, LOC100130987 4 0 0 0 0 0 0 0 0 0 4
CLCN7 3 0 0 0 1 0 0 0 0 0 4
DLL3 0 0 0 0 4 0 0 0 0 0 4
DNAAF1 4 0 0 0 0 0 0 0 0 0 4
ENPP1 1 0 0 0 3 0 0 0 0 0 4
F8 0 0 0 0 4 0 0 0 0 0 4
FGF3, LOC109115964 4 0 0 0 0 0 0 0 0 0 4
GDAP1 4 0 0 0 0 0 0 0 0 0 4
GRHPR 2 0 0 0 2 0 0 0 0 0 4
HPS3 4 0 0 0 0 0 0 0 0 0 4
HTT, LOC109461479 3 0 0 0 1 0 0 0 0 0 4
INVS 4 0 0 0 0 0 0 0 0 0 4
KCNT1 4 0 0 0 0 0 0 0 0 0 4
KRT14 4 0 0 0 0 0 0 0 0 0 4
LAMB3 4 0 0 0 0 0 0 0 0 0 4
LCA5 4 0 0 0 0 0 0 0 0 0 4
LOC110806263, TERT 4 0 0 0 0 0 0 0 0 0 4
MAP2K1 4 0 0 0 0 0 0 0 0 0 4
MBD5 4 0 0 0 0 0 0 0 0 0 4
MT-TK 4 0 0 0 0 0 0 0 0 0 4
NRAS 4 0 0 0 0 0 0 0 0 0 4
PDX1 4 0 0 0 0 0 0 0 0 0 4
PEPD 4 0 0 0 0 0 0 0 0 0 4
PRKN 0 0 0 0 4 0 0 0 0 0 4
RAB18 4 0 0 0 0 0 0 0 0 0 4
RAD51 2 0 2 0 0 0 0 0 0 0 4
RAF1 4 0 0 0 0 0 0 0 0 0 4
RYR2 4 0 0 0 0 0 0 0 0 0 4
SACS 4 0 0 0 0 0 0 0 0 0 4
SALL4 4 0 0 0 0 0 0 0 0 0 4
SAMD9L 4 0 0 0 0 0 0 0 0 0 4
SARM1, SLC46A1 4 0 0 0 0 0 0 0 0 0 4
SCN5A 4 0 0 0 0 0 0 0 0 0 4
SERPINE1 3 0 0 0 0 0 0 0 1 0 4
SLC6A8 4 0 0 0 0 0 0 0 0 0 4
SPATA7 4 0 0 0 0 0 0 0 0 0 4
SPRED1 0 0 0 0 4 0 0 0 0 0 4
SPTLC1 4 0 0 0 0 0 0 0 0 0 4
TANGO2 4 0 0 0 0 0 0 0 0 0 4
TMEM67 2 0 2 0 0 0 0 0 0 0 4
TSEN54 4 0 0 0 0 0 0 0 0 0 4
TUBA1A 4 0 0 0 0 0 0 0 0 0 4
USH1C 2 1 0 0 1 0 0 0 0 0 4
WASHC5 4 0 0 0 0 0 0 0 0 0 4
WNT5A 4 0 0 0 0 0 0 0 0 0 4
WRAP53 4 0 0 0 0 0 0 0 0 0 4
ZAP70 4 0 0 0 0 0 0 0 0 0 4
ACADS 1 2 0 0 0 0 0 0 0 0 3
AKT3 3 0 0 0 0 0 0 0 0 0 3
ALAS2 3 0 0 0 0 0 0 0 0 0 3
AMT 3 0 0 0 0 0 0 0 0 0 3
APOB 3 0 0 0 0 0 0 0 0 0 3
ARMS2, HTRA1 0 0 0 0 3 0 0 0 0 0 3
ASL 3 0 0 0 0 0 0 0 0 0 3
ATN1, LOC109461484 2 0 0 0 1 0 0 0 0 0 3
ATP7B 3 0 0 0 0 0 0 0 0 0 3
B3GLCT 3 0 0 0 0 0 0 0 0 0 3
BCKDHB 3 0 0 0 0 0 0 0 0 0 3
BRCA1 3 0 0 0 0 0 0 0 0 0 3
BRCA2 3 0 0 0 0 0 0 0 0 0 3
C21orf59-TCP10L, CFAP298 3 0 0 0 0 0 0 0 0 0 3
C2orf88, MSTN 2 0 0 0 1 0 0 0 0 0 3
CA5A 3 0 0 0 0 0 0 0 0 0 3
CASP10 2 0 0 0 1 0 0 0 0 0 3
CCDC39 3 0 0 0 0 0 0 0 0 0 3
CLN6 3 0 0 0 0 0 0 0 0 0 3
COL4A5 3 0 0 0 0 0 0 0 0 0 3
CP, HPS3 3 0 0 0 0 0 0 0 0 0 3
CRH 3 0 0 0 0 0 0 0 0 0 3
CRLF1, LOC112543470 3 0 0 0 0 0 0 0 0 0 3
CRYAB 3 0 0 0 0 0 0 0 0 0 3
DARS2 3 0 0 0 0 0 0 0 0 0 3
DCN 3 0 0 0 0 0 0 0 0 0 3
DNAAF2 3 0 0 0 0 0 0 0 0 0 3
DNAAF3 3 0 0 0 0 0 0 0 0 0 3
DNAH5 3 0 0 0 0 0 0 0 0 0 3
DNAI1 3 0 0 0 0 0 0 0 0 0 3
DNAI2 3 0 0 0 0 0 0 0 0 0 3
DUPD1, KAT6B 3 0 0 0 0 0 0 0 0 0 3
EDARADD 3 0 0 0 0 0 0 0 0 0 3
EXOSC3 3 0 0 0 0 0 0 0 0 0 3
EZH2 3 0 0 0 0 0 0 0 0 0 3
F2 0 0 3 0 0 0 0 0 0 0 3
FANCC 3 0 0 0 0 0 0 0 0 0 3
FLCN 3 0 0 0 0 0 0 0 0 0 3
GALNS 3 0 0 0 0 0 0 0 0 0 3
GATM 3 0 0 0 0 0 0 0 0 0 3
GLA, RPL36A-HNRNPH2 1 0 2 0 0 0 0 0 0 0 3
GLDC 3 0 0 0 0 0 0 0 0 0 3
GNAL 2 0 0 0 1 0 0 0 0 0 3
HCCS 3 0 0 0 0 0 0 0 0 0 3
HEPACAM 3 0 0 0 0 0 0 0 0 0 3
HFE 3 0 0 0 0 0 0 0 0 0 3
HNRNPK 3 0 0 0 0 0 0 0 0 0 3
HSPB8 3 0 0 0 0 0 0 0 0 0 3
INS 3 0 0 0 0 0 0 0 0 0 3
IQCG, RPL35A 3 0 0 0 0 0 0 0 0 0 3
ISCA2 3 0 0 0 0 0 0 0 0 0 3
JUP 2 0 0 0 1 0 0 0 0 0 3
KIF21A 3 0 0 0 0 0 0 0 0 0 3
KRT5 3 0 0 0 0 0 0 0 0 0 3
LOC110120802, TRPS1 3 0 0 0 0 0 0 0 0 0 3
MAP2K2 3 0 0 0 0 0 0 0 0 0 3
MATN3 3 0 0 0 0 0 0 0 0 0 3
MCEE 3 0 0 0 0 0 0 0 0 0 3
MCIDAS 3 0 0 0 0 0 0 0 0 0 3
MT-CO3 3 0 0 0 0 0 0 0 0 0 3
MT-ND2 3 0 0 0 0 0 0 0 0 0 3
MT-TW 3 0 0 0 0 0 0 0 0 0 3
NGLY1 3 0 0 0 0 0 0 0 0 0 3
NHP2, RMND5B 3 0 0 0 0 0 0 0 0 0 3
PAX2 1 0 2 0 0 0 0 0 0 0 3
PDSS1 3 0 0 0 0 0 0 0 0 0 3
PRICKLE1 3 0 0 0 0 0 0 0 0 0 3
PRRT2 3 0 0 0 0 0 0 0 0 0 3
RAB3GAP2 3 0 0 0 0 0 0 0 0 0 3
RANBP2 3 0 0 0 0 0 0 0 0 0 3
RAPSN 3 0 0 0 0 0 0 0 0 0 3
RPS24 3 0 0 0 0 0 0 0 0 0 3
RUNX2 3 0 0 0 0 0 0 0 0 0 3
SDHA 3 0 0 0 0 0 0 0 0 0 3
SEPTIN9 3 0 0 0 0 0 0 0 0 0 3
SLC17A5 2 0 0 0 1 0 0 0 0 0 3
SLC37A4 3 0 0 0 0 0 0 0 0 0 3
SLC6A9 3 0 0 0 0 0 0 0 0 0 3
SLITRK6 3 0 0 0 0 0 0 0 0 0 3
SOX9 2 0 0 0 1 0 0 0 0 0 3
TH 2 0 0 0 1 0 0 0 0 0 3
TIMM8A 2 0 0 0 1 0 0 0 0 0 3
TTBK2 3 0 0 0 0 0 0 0 0 0 3
TYROBP 3 0 0 0 0 0 0 0 0 0 3
UBA1 3 0 0 0 0 0 0 0 0 0 3
UROD 3 0 0 0 0 0 0 0 0 0 3
VLDLR 3 0 0 0 0 0 0 0 0 0 3
VPS13B 3 0 0 0 0 0 0 0 0 0 3
XPA 3 0 0 0 0 0 0 0 0 0 3
AARS 2 0 0 0 0 0 0 0 0 0 2
ACD 2 0 0 0 0 0 0 0 0 0 2
ADAR 2 0 0 0 0 0 0 0 0 0 2
ADGRV1 0 2 0 0 0 0 0 0 0 0 2
ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, RBFA, SLC66A2, TXNL4A 2 0 0 0 0 0 0 0 0 0 2
AOPEP, FANCC 2 0 0 0 0 0 0 0 0 0 2
AR 0 0 0 0 2 0 0 0 0 0 2
ARMC4 2 0 0 0 0 0 0 0 0 0 2
ATF6 2 0 0 0 0 0 0 0 0 0 2
ATXN2 1 0 0 0 1 0 0 0 0 0 2
ATXN3, LOC108663987 1 0 0 0 1 0 0 0 0 0 2
BAAT 2 0 0 0 0 0 0 0 0 0 2
BBS1, ZDHHC24 2 0 0 0 0 0 0 0 0 0 2
C15orf41 2 0 0 0 0 0 0 0 0 0 2
C17orf107, CHRNE 2 0 0 0 0 0 0 0 0 0 2
C9orf72, LOC109504728 1 0 0 0 1 0 0 0 0 0 2
CALM1 2 0 0 0 0 0 0 0 0 0 2
CATSPER1 2 0 0 0 0 0 0 0 0 0 2
CCDC103 2 0 0 0 0 0 0 0 0 0 2
CCDC151 2 0 0 0 0 0 0 0 0 0 2
CCDC40 2 0 0 0 0 0 0 0 0 0 2
CCM2 2 0 0 0 0 0 0 0 0 0 2
CENPJ, RNF17 1 0 0 0 1 0 0 0 0 0 2
CEP290 2 0 0 0 0 0 0 0 0 0 2
CFH 2 0 0 0 0 0 0 0 0 0 2
CFTR, LOC111674475 2 0 0 0 0 0 0 0 0 0 2
CHPT1, GNPTAB 2 0 0 0 0 0 0 0 0 0 2
CHRNE 2 0 0 0 0 0 0 0 0 0 2
CLN3 2 0 0 0 0 0 0 0 0 0 2
CNGB3 2 0 0 0 0 0 0 0 0 0 2
COL2A1 2 0 0 0 0 0 0 0 0 0 2
COQ9 2 0 0 0 0 0 0 0 0 0 2
CYBB 2 0 0 0 0 0 0 0 0 0 2
DNAH11 2 0 0 0 0 0 0 0 0 0 2
DNAJB2 2 0 0 0 0 0 0 0 0 0 2
DRC1 2 0 0 0 0 0 0 0 0 0 2
DTNBP1 2 0 0 0 0 0 0 0 0 0 2
EFEMP2, MUS81 1 0 0 0 1 0 0 0 0 0 2
EPM2A, LOC100507557 0 0 1 0 1 0 0 0 0 0 2
ERCC1 2 0 0 0 0 0 0 0 0 0 2
ERCC2 2 0 0 0 0 0 0 0 0 0 2
F9 2 0 0 0 0 0 0 0 0 0 2
FAM20A, PRKAR1A 2 0 0 0 0 0 0 0 0 0 2
FANCI, POLG 0 0 0 0 2 0 0 0 0 0 2
FARS2 2 0 0 0 0 0 0 0 0 0 2
FASLG 2 0 0 0 0 0 0 0 0 0 2
GBA 2 0 0 0 0 0 0 0 0 0 2
GJB6 2 0 0 0 0 0 0 0 0 0 2
GJC2 2 0 0 0 0 0 0 0 0 0 2
GLIS2 2 0 0 0 0 0 0 0 0 0 2
GLRB 2 0 0 0 0 0 0 0 0 0 2
GPD1L 2 0 0 0 0 0 0 0 0 0 2
GPR101 0 0 2 0 0 0 0 0 0 0 2
HBA1, HBA2, LOC106804612, LOC106804613 2 0 0 0 0 0 0 0 0 0 2
HBA1, LOC106804613 2 0 0 0 0 0 0 0 0 0 2
HBB 2 0 0 0 0 0 0 0 0 0 2
HFE, LOC108783645 2 0 0 0 0 0 0 0 0 0 2
HOGA1 2 0 0 0 0 0 0 0 0 0 2
HPSE2 2 0 0 0 0 0 0 0 0 0 2
HYDIN 2 0 0 0 0 0 0 0 0 0 2
INSR 2 0 0 0 0 0 0 0 0 0 2
ISCU 2 0 0 0 0 0 0 0 0 0 2
KCNJ5 2 0 0 0 0 0 0 0 0 0 2
KCNK9 2 0 0 0 0 0 0 0 0 0 2
KIF1A 2 0 0 0 0 0 0 0 0 0 2
KMT2B 2 0 0 0 0 0 0 0 0 0 2
KRIT1 2 0 0 0 0 0 0 0 0 0 2
LAMA3 2 0 0 0 0 0 0 0 0 0 2
LDLR 2 0 0 0 0 0 0 0 0 0 2
LIPA 2 0 0 0 0 0 0 0 0 0 2
LIX1L, RBM8A 2 0 0 0 0 0 0 0 0 0 2
LOC101927870, RELN 2 0 0 0 0 0 0 0 0 0 2
LOC107075317, SIX5 2 0 0 0 0 0 0 0 0 0 2
LOC109504727, NOP56 1 0 0 0 1 0 0 0 0 0 2
LRSAM1 2 0 0 0 0 0 0 0 0 0 2
LZTFL1 2 0 0 0 0 0 0 0 0 0 2
MARS 2 0 0 0 0 0 0 0 0 0 2
MECP2 2 0 0 0 0 0 0 0 0 0 2
MFSD8 2 0 0 0 0 0 0 0 0 0 2
MT-CYB 1 0 1 0 0 0 0 0 0 0 2
MT-RNR1 1 0 1 0 0 0 0 0 0 0 2
MT-TI 2 0 0 0 0 0 0 0 0 0 2
MT-TV 2 0 0 0 0 0 0 0 0 0 2
NCF4 2 0 0 0 0 0 0 0 0 0 2
NME8 2 0 0 0 0 0 0 0 0 0 2
NPHP1 2 0 0 0 0 0 0 0 0 0 2
NPHP3, NPHP3-ACAD11 2 0 0 0 0 0 0 0 0 0 2
NPHP4 2 0 0 0 0 0 0 0 0 0 2
PDGFRB 2 0 0 0 0 0 0 0 0 0 2
PDSS2 2 0 0 0 0 0 0 0 0 0 2
PNPLA6 2 0 0 0 0 0 0 0 0 0 2
PPOX 2 0 0 0 0 0 0 0 0 0 2
PPT1 2 0 0 0 0 0 0 0 0 0 2
PSEN2 2 0 0 0 0 0 0 0 0 0 2
RAB3GAP1, ZRANB3 2 0 0 0 0 0 0 0 0 0 2
RAD21 2 0 0 0 0 0 0 0 0 0 2
RBM8A 2 0 0 0 0 0 0 0 0 0 2
RPGRIP1 2 0 0 0 0 0 0 0 0 0 2
RPS17 2 0 0 0 0 0 0 0 0 0 2
SALL1 2 0 0 0 0 0 0 0 0 0 2
SCN11A 2 0 0 0 0 0 0 0 0 0 2
SLC20A2 2 0 0 0 0 0 0 0 0 0 2
SLC40A1 2 0 0 0 0 0 0 0 0 0 2
SLITRK1 2 0 0 0 0 0 0 0 0 0 2
SMARCB1 2 0 0 0 0 0 0 0 0 0 2
SPAG1 2 0 0 0 0 0 0 0 0 0 2
SRCAP 2 0 0 0 0 0 0 0 0 0 2
TEK 2 0 0 0 0 0 0 0 0 0 2
TGIF1 0 0 0 0 2 0 0 0 0 0 2
TGM5 1 0 0 0 1 0 0 0 0 0 2
TPP1 2 0 0 0 0 0 0 0 0 0 2
TYR 0 0 0 0 2 0 0 0 0 0 2
USH1G 2 0 0 0 0 0 0 0 0 0 2
WAC 2 0 0 0 0 0 0 0 0 0 2
WDR19 2 0 0 0 0 0 0 0 0 0 2
ZMYND10 2 0 0 0 0 0 0 0 0 0 2
A2ML1, ACRBP, ACSM4, ADIPOR2, AICDA, AKAP3, ANO2, APOBEC1, ATN1, B4GALNT3, C12orf4, C12orf57, C1R, C1RL, C1S, C3AR1, CACNA1C, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CCDC77, CCND2, CD163, CD163L1, CD27, CD4, CD9, CDCA3, CHD4, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, COPS7A, CRACR2A, DCP1B, DPPA3, DYRK4, EMG1, ENO2, ERC1, FAM138D, FAM66C, FAM90A1, FBXL14, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GPR162, IFFO1, ING4, IQSEC3, ITFG2, KCNA1, KCNA5, KCNA6, KDM5A, KLRG1, LAG3, LINC00937, LINC00940, LINC00942, LINC02417, LINC02443, LINC02449, LINC02455, LINC02827, LOC100049716, LOC100128253, LOC100507424, LOC101929384, LOC102723544, LOC105369595, LOC105369632, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108942766, LOC109461484, LOC112136100, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939935, LOC574538, LPAR5, LPCAT3, LRRC23, LRTM2, LTBR, M6PR, MFAP5, MIR141, MIR200C, MIR200CHG, MIR3649, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, P3H3, PARP11, PEX5, PHB2, PHC1, PIANP, PLEKHG6, PRMT8, PTMS, PTPN6, RAD51AP1, RAD52, RBP5, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SNORA120, SPSB2, TAPBPL, TEAD4, TEX52, THCAT155, TIGAR, TNFRSF1A, TPI1, TSPAN9, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 1 0 0 0 0 0 0 0 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 1 0 0 0 0 0 0 0 0 0 1
ABCA13, ABCB1, ABCB4, ABHD11, ACHE, ACTL6B, ADAM22, ADCY1, ADCYAP1R1, AEBP1, AGFG2, AKAP9, ALKBH4, AMPH, ANKIB1, ANLN, AOAH, AP1S1, AP4M1, AQP1, ARMC10, ARPC1A, ARPC1B, ASB4, ASL, ASNS, ATP5MF, ATP5MF-PTCD1, ATXN7L1, AUTS2, AVL9, AZGP1, BAIAP2L1, BAZ1B, BBS9, BCAP29, BCL7B, BET1, BHLHA15, BLVRA, BMPER, BMT2, BRI3, BUD23, BUD31, C7orf25, C7orf31, C7orf57, C7orf61, C7orf65, C7orf66, C7orf69, C7orf76, CACNA2D1, CALCR, CALN1, CAMK2B, CASD1, CASTOR2, CASTOR3, CBLL1, CBX3, CCDC126, CCDC146, CCDC71L, CCL24, CCL26, CCM2, CCT6A, CD36, CDCA7L, CDHR3, CDK13, CDK14, CDK6, CFAP69, CHCHD2, CHN2, CLDN12, CLDN15, CLDN3, CLDN4, CLIP2, CNPY4, COA1, COBL, COG5, COL1A2, COL26A1, COPS6, CPSF4, CPVL, CRCP, CREB5, CRHR2, CROT, CUX1, CYCS, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP51A1, DBF4, DBNL, DDC, DDX56, DLD, DLX5, DLX6, DMTF1, DNAH11, DNAJB9, DNAJC2, DNAJC30, DOCK4, DPY19L1, DTX2, DUS4L, DYNC1I1, EEPD1, EGFR, EIF4H, ELMO1, ELN, EPDR1, EPHB4, EPO, ERV3-1, ERVW-1, EVX1, FAM126A, FAM133B, FAM185A, FAM200A, FAM221A, FBXL13, FBXO24, FGL2, FIGNL1, FIS1, FKBP14, FKBP6, FKBP9, FOXP2, FZD1, FZD9, GAL3ST4, GALNT17, GARS, GATAD1, GCK, GGCT, GHRHR, GIGYF1, GJC3, GLI3, GNAI1, GNAT3, GNB2, GNG11, GNGT1, GPC2, GPNMB, GPR141, GPR22, GPR85, GRB10, GRM3, GSAP, GSDME, GTF2I, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, H2AFV, HBP1, HECW1, HECW1-IT1, HEPACAM2, HERPUD2, HGF, HIBADH, HIP1, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA11, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HPVC1, HSPB1, HUS1, IFRD1, IFT22, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IMMP2L, INHBA, INMT, ITPRID1, JAZF1, KBTBD2, KCTD7, KIAA0895, KIAA1324L, KLHL7, KLHL7-DT, KMT2E, KPNA7, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LHFPL3, LIMK1, LINC00972, LINC02860, LMTK2, LOC541472, LRCH4, LRRC17, LRRD1, LRRN3, LRWD1, LSM5, LSMEM1, MAGI2, MALSU1, MAP11, MBLAC1, MCM7, MDH2, MEPCE, METTL27, MINDY4, MIR106B, MIR148A, MIR196B, MIR25, MIR489, MIR590, MIR93, MLXIPL, MOGAT3, MOSPD3, MPLKIP, MPP6, MRPL32, MRPS17, MRPS24, MTERF1, MTURN, MUC12, MUC17, MUC3A, MYL10, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCF1, NEUROD6, NFE2L3, NFE4, NIPSNAP2, NME8, NOD1, NPC1L1, NPSR1, NPTX2, NPVF, NPY, NRCAM, NSUN5, NT5C3A, NUDCD3, NUP42, NUPR2, NYAP1, OCM2, OGDH, OR2AE1, ORAI2, ORC5, OSBPL3, PCLO, PCOLCE, PDAP1, PDE1C, PDK4, PEG10, PEX1, PGAM2, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLEKHA8, PLOD3, PMPCB, PNPLA8, POLD2, POLM, POLR2J, POLR2J2, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POP7, POR, POU6F2, PPIA, PPP1R17, PPP1R35, PPP1R3A, PPP1R9A, PRKAR2B, PRKRIP1, PRR15, PSMA2, PSMC2, PSPH, PTCD1, PTPN12, PURB, PUS7, PVRIG, RABGEF1, RALA, RAMP3, RAPGEF5, RASA4, RASA4B, RBM48, RCC1L, RELN, RFC2, RHBDD2, RINT1, RP9, RSBN1L, RUNDC3B, SAMD9, SAMD9L, SAP25, SBDS, SCRN1, SDHAF3, SEC61G, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPTIN14, SEPTIN7, SERPINE1, SFRP4, SGCE, SH2B2, SKAP2, SLC12A9, SLC25A13, SLC25A40, SLC26A3, SLC26A4, SLC26A5, SMURF1, SNHG15, SNORA5C, SNX10, SP4, SPATA48, SPDYE1, SPDYE2, SPDYE2B, SPDYE3, SPDYE5, SPDYE6, SRI, SRPK2, SRRM3, SRRT, SSC4D, STAG3, STARD3NL, STEAP1, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, STYXL1, SUGCT, SUMF2, SUN3, SYPL1, TAC1, TAF6, TARP, TAX1BP1, TBL2, TBRG4, TBX20, TECPR1, TEX47, TFPI2, TFR2, THAP5, TMED4, TMEM120A, TMEM130, TMEM168, TMEM243, TMEM248, TMEM270, TMEM60, TNS3, TOMM7, TPST1, TRA2A, TRIL, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRRAP, TSC22D4, TYW1, TYW1B, UBE2D4, UFSP1, UPK3BL1, UPP1, URGCP, VGF, VKORC1L1, VOPP1, VPS37D, VPS41, VPS50, VSTM2A, VWC2, WIPF3, YAE1, YKT6, YWHAG, ZAN, ZASP, ZCWPW1, ZKSCAN1, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF273, ZNF277, ZNF3, ZNF394, ZNF479, ZNF655, ZNF679, ZNF680, ZNF713, ZNF716, ZNF727, ZNF735, ZNF736, ZNF789, ZNF804B, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZSCAN21, ZSCAN25 1 0 0 0 0 0 0 0 0 0 1
ABCC8, KCNJ11 0 0 0 0 1 0 0 0 0 0 1
ACADVL, DLG4 0 0 0 0 1 0 0 0 0 0 1
ACTRT1, DCAF12L1, LOC113875008, OCRL, PRR32, SMARCA1 1 0 0 0 0 0 0 0 0 0 1
ACTRT3, LOC110806306, TERC 1 0 0 0 0 0 0 0 0 0 1
ADNP2, ATP9B, CTDP1, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NFATC1, PARD6G, RBFA, SALL3, SLC66A2, TXNL4A, ZNF236, ZNF516 1 0 0 0 0 0 0 0 0 0 1
ADNP2, CTDP1, HSBP1L1, KCNG2, RBFA, SLC66A2, TXNL4A 1 0 0 0 0 0 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 0 0 0 0 0 1
AKT1 1 0 0 0 0 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, LOC101928595, LOC112352679, LOC112352680, LOC112694756, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 0 0 0 0 1
ALX4 1 0 0 0 0 0 0 0 0 0 1
ANKRD11 1 0 0 0 0 0 0 0 0 0 1
ANKRD34A, ANKRD35, HJV, ITGA10, LIX1L, NUDT17, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, TXNIP 1 0 0 0 0 0 0 0 0 0 1
APOE 1 0 0 0 0 0 0 0 0 0 1
ATRX 1 0 0 0 0 0 0 0 0 0 1
ATXN3 0 0 0 0 1 0 0 0 0 0 1
BAG3 1 0 0 0 0 0 0 0 0 0 1
BBIP1 1 0 0 0 0 0 0 0 0 0 1
BBS1 1 0 0 0 0 0 0 0 0 0 1
BBS4, HIGD2B 0 0 0 0 1 0 0 0 0 0 1
BCKDHA 1 0 0 0 0 0 0 0 0 0 1
BCOR 1 0 0 0 0 0 0 0 0 0 1
BDH1, CEP19, DLG1, FBXO45, MELTF, NCBP2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TCTEX1D2, TFRC, TM4SF19, UBXN7, WDR53, ZDHHC19 1 0 0 0 0 0 0 0 0 0 1
BLOC1S3 1 0 0 0 0 0 0 0 0 0 1
C10orf105, CDH23 1 0 0 0 0 0 0 0 0 0 1
CACNA1F 1 0 0 0 0 0 0 0 0 0 1
CACNB2, NSUN6 1 0 0 0 0 0 0 0 0 0 1
CAPN3, SGCB 1 0 0 0 0 0 0 0 0 0 1
CCDC114 1 0 0 0 0 0 0 0 0 0 1
CCDC39, TTC14 1 0 0 0 0 0 0 0 0 0 1
CCDC65 1 0 0 0 0 0 0 0 0 0 1
CDC42BPA, COQ8A 1 0 0 0 0 0 0 0 0 0 1
CDCA7L, DNAH11 1 0 0 0 0 0 0 0 0 0 1
CFH, CFHR1, CFHR3 1 0 0 0 0 0 0 0 0 0 1
CFI 1 0 0 0 0 0 0 0 0 0 1
CFL2 1 0 0 0 0 0 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 0 0 0 0 0 1
CHAT 1 0 0 0 0 0 0 0 0 0 1
CHM 1 0 0 0 0 0 0 0 0 0 1
CHRNA2 1 0 0 0 0 0 0 0 0 0 1
CHRNA7, FAN1, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 0 0 0 0 0 1
CIB2 1 0 0 0 0 0 0 0 0 0 1
CLCN5, MIR188, MIR362, MIR500A, MIR500B, MIR501, MIR502, MIR532, MIR660 1 0 0 0 0 0 0 0 0 0 1
CLN5 1 0 0 0 0 0 0 0 0 0 1
CLN5, FBXL3 1 0 0 0 0 0 0 0 0 0 1
CLN8 1 0 0 0 0 0 0 0 0 0 1
COL1A1 1 0 0 0 0 0 0 0 0 0 1
COL5A1 1 0 0 0 0 0 0 0 0 0 1
COL5A1, LOC101448202 1 0 0 0 0 0 0 0 0 0 1
COL9A1 1 0 0 0 0 0 0 0 0 0 1
COL9A2 1 0 0 0 0 0 0 0 0 0 1
CRB1 1 0 0 0 0 0 0 0 0 0 1
CRX 1 0 0 0 0 0 0 0 0 0 1
CRYL1, GJB2, MIR4499 1 0 0 0 0 0 0 0 0 0 1
CSTB, LOC109029533 1 0 0 0 0 0 0 0 0 0 1
CTDP1 1 0 0 0 0 0 0 0 0 0 1
CTNS, SHPK, TRPV1 1 0 0 0 0 0 0 0 0 0 1
CYBA 1 0 0 0 0 0 0 0 0 0 1
CYP21A2 1 0 0 0 0 0 0 0 0 0 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 0 0 0 0 0 1
DCAF17 1 0 0 0 0 0 0 0 0 0 1
DES 1 0 0 0 0 0 0 0 0 0 1
DLD 1 0 0 0 0 0 0 0 0 0 1
DM1, DMPK, LOC107075317, LOC109461477 0 0 0 0 1 0 0 0 0 0 1
DM1, LOC107075317, SIX5 1 0 0 0 0 0 0 0 0 0 1
DNAAF5 1 0 0 0 0 0 0 0 0 0 1
DNAH1 1 0 0 0 0 0 0 0 0 0 1
DNAH8 1 0 0 0 0 0 0 0 0 0 1
DNAL1 1 0 0 0 0 0 0 0 0 0 1
DOK7 1 0 0 0 0 0 0 0 0 0 1
DYNC1H1 1 0 0 0 0 0 0 0 0 0 1
DYRK1A 0 0 0 0 1 0 0 0 0 0 1
EPM2A 1 0 0 0 0 0 0 0 0 0 1
FANCA 1 0 0 0 0 0 0 0 0 0 1
FANCA, ZNF276 1 0 0 0 0 0 0 0 0 0 1
FECH 1 0 0 0 0 0 0 0 0 0 1
FGF23 1 0 0 0 0 0 0 0 0 0 1
FIG4 1 0 0 0 0 0 0 0 0 0 1
FOXP2, RFC3 1 0 0 0 0 0 0 0 0 0 1
GAMT, NDUFS7 0 0 0 0 1 0 0 0 0 0 1
GJB2, GJB6 1 0 0 0 0 0 0 0 0 0 1
GNAT2 1 0 0 0 0 0 0 0 0 0 1
GPHN 1 0 0 0 0 0 0 0 0 0 1
GPHN, RDH12, ZFYVE26 1 0 0 0 0 0 0 0 0 0 1
GRN 1 0 0 0 0 0 0 0 0 0 1
GUCY2D 1 0 0 0 0 0 0 0 0 0 1
HBA1, HBA2 1 0 0 0 0 0 0 0 0 0 1
HBA1, HBA2, HBM, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 0 0 0 0 1
HBA2 1 0 0 0 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 0 0 0 0 0 1
HES7 1 0 0 0 0 0 0 0 0 0 1
HK1 1 0 0 0 0 0 0 0 0 0 1
HPS6 1 0 0 0 0 0 0 0 0 0 1
IFT43 1 0 0 0 0 0 0 0 0 0 1
IMMP2L, LRRN3 1 0 0 0 0 0 0 0 0 0 1
IQCB1 1 0 0 0 0 0 0 0 0 0 1
ITGB4 1 0 0 0 0 0 0 0 0 0 1
ITPR1 1 0 0 0 0 0 0 0 0 0 1
KCNQ1 1 0 0 0 0 0 0 0 0 0 1
KIF1B 1 0 0 0 0 0 0 0 0 0 1
KL 1 0 0 0 0 0 0 0 0 0 1
KRT17 1 0 0 0 0 0 0 0 0 0 1
LAMC2 1 0 0 0 0 0 0 0 0 0 1
LDB3, LOC110121486 1 0 0 0 0 0 0 0 0 0 1
LFNG 1 0 0 0 0 0 0 0 0 0 1
LOC101928222, MATN3 1 0 0 0 0 0 0 0 0 0 1
LOC101929524, RETREG1 1 0 0 0 0 0 0 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 0 0 0 0 0 1
LOC110008580, ZIC2 1 0 0 0 0 0 0 0 0 0 1
LOC110806306 1 0 0 0 0 0 0 0 0 0 1
LOC113687175, TFR2 1 0 0 0 0 0 0 0 0 0 1
MED25 1 0 0 0 0 0 0 0 0 0 1
MSX2 1 0 0 0 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 0 0 0 0 1
MT-RNR1, MT-TS1 1 0 0 0 0 0 0 0 0 0 1
MT-TF 1 0 0 0 0 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 0 0 0 0 1
MT-TP 1 0 0 0 0 0 0 0 0 0 1
MT-TP, MT-TT 1 0 0 0 0 0 0 0 0 0 1
MTMR2 1 0 0 0 0 0 0 0 0 0 1
MYCN 0 0 0 0 1 0 0 0 0 0 1
MYCN, MYCNOS 1 0 0 0 0 0 0 0 0 0 1
MYOT 1 0 0 0 0 0 0 0 0 0 1
NAA10 1 0 0 0 0 0 0 0 0 0 1
NAGLU 1 0 0 0 0 0 0 0 0 0 1
NDRG1 1 0 0 0 0 0 0 0 0 0 1
NEB 1 0 0 0 0 0 0 0 0 0 1
NMNAT1 1 0 0 0 0 0 0 0 0 0 1
NOP10 1 0 0 0 0 0 0 0 0 0 1
OTOP2, USH1G 0 1 0 0 0 0 0 0 0 0 1
PDE6C 1 0 0 0 0 0 0 0 0 0 1
PDE6H 1 0 0 0 0 0 0 0 0 0 1
PIK3R2 1 0 0 0 0 0 0 0 0 0 1
PKD1 1 0 0 0 0 0 0 0 0 0 1
PLEC 1 0 0 0 0 0 0 0 0 0 1
POLR2K, SPAG1 1 0 0 0 0 0 0 0 0 0 1
PRSS1 1 0 0 0 0 0 0 0 0 0 1
RD3 1 0 0 0 0 0 0 0 0 0 1
RMRP 1 0 0 0 0 0 0 0 0 0 1
RPGRIP1L 1 0 1 0 0 0 0 0 0 0 1
RPS7 1 0 0 0 0 0 0 0 0 0 1
RSPH3 1 0 0 0 0 0 0 0 0 0 1
RSPH9 1 0 0 0 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 0 0 0 0 0 1
SCN3B 1 0 0 0 0 0 0 0 0 0 1
SDHAF2 1 0 0 0 0 0 0 0 0 0 1
SELENON 1 0 0 0 0 0 0 0 0 0 1
SIX5 1 0 0 0 0 0 0 0 0 0 1
SLC52A1 1 0 0 0 0 0 0 0 0 0 1
SMN2 1 0 0 0 0 0 0 0 0 0 1
SPR 1 0 0 0 0 0 0 0 0 0 1
SUCLA2 1 0 0 0 0 0 0 0 0 0 1
TAF1 1 0 0 0 0 0 0 0 0 0 1
TCTN1 1 0 0 0 0 0 0 0 0 0 1
TMEM216 1 0 0 0 0 0 0 0 0 0 1
TMEM237 1 0 0 0 0 0 0 0 0 0 1
TNNT1 1 0 0 0 0 0 0 0 0 0 1
TPM2 1 0 0 0 0 0 0 0 0 0 1
TSEN2 1 0 0 0 0 0 0 0 0 0 1
TSEN34 1 0 0 0 0 0 0 0 0 0 1
TUBB2B 1 0 0 0 0 0 0 0 0 0 1
UMOD 1 0 0 0 0 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 0 0 0 0 1
XPC 1 0 0 0 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 685
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association protective risk factor other not provided total
Parkinson disease 8, autosomal dominant 15 0 127 0 0 0 0 0 0 0 142
Oral-facial-digital syndrome 112 0 0 0 6 0 0 0 0 0 118
Alexander Disease 110 0 0 0 0 0 0 0 0 0 110
Spastic paraplegia 11, autosomal recessive 98 0 0 0 7 0 0 0 0 0 105
Benign familial neonatal seizures 1 100 0 0 0 2 0 0 0 0 0 102
Primary autosomal recessive microcephaly 5 79 0 0 0 22 0 0 0 0 0 101
Deafness, autosomal recessive 9 65 0 0 0 23 7 0 0 0 0 95
I cell disease 91 0 0 0 0 0 0 0 0 0 91
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 76 0 0 0 10 0 0 0 0 0 86
Myopathy, Central Core 72 0 0 0 4 0 0 0 0 0 76
Cholestanol storage disease 62 0 0 0 7 0 0 0 0 0 69
Epilepsy, familial focal, with variable foci 1 50 0 19 0 0 0 0 0 0 0 69
Early infantile epileptic encephalopathy 7 65 0 0 0 3 0 0 0 0 0 68
Somatotroph adenoma 6 48 3 9 0 0 0 0 0 0 66
Permanent neonatal diabetes mellitus 62 0 0 0 1 0 0 0 0 0 63
Kartagener syndrome 58 0 0 0 0 0 0 0 0 0 58
Dyskeratosis congenita autosomal dominant 44 0 0 0 5 0 0 0 0 0 49
Deficiency of ferroxidase 43 0 0 0 0 0 0 0 0 0 43
Hereditary diffuse leukoencephalopathy with spheroids 43 0 0 0 0 0 0 0 0 0 43
Ataxia-telangiectasia syndrome 42 0 0 0 0 0 0 0 0 0 42
beta Thalassemia 42 0 0 0 0 0 0 0 0 0 42
Chédiak-Higashi syndrome 41 0 0 0 0 0 0 0 0 0 41
Leukoencephalopathy with ataxia 18 1 20 0 0 0 0 0 0 0 39
Trichorhinophalangeal dysplasia type I 39 0 0 0 0 0 0 0 0 0 39
Leigh syndrome 37 0 0 0 0 0 0 0 0 0 37
Dyskeratosis congenita X-linked 36 0 0 0 0 0 0 0 0 0 36
Early infantile epileptic encephalopathy 13 35 0 1 0 0 0 0 0 0 0 36
Leber's optic atrophy 33 0 3 0 0 0 0 0 0 0 36
RRM2B-related mitochondrial disease 36 0 0 0 0 0 0 0 0 0 36
Alternating hemiplegia of childhood 2 35 0 0 0 0 0 0 0 0 0 35
Bloom syndrome 34 0 0 0 0 0 0 0 0 0 34
Carnitine palmitoyltransferase I deficiency 34 0 0 0 0 0 0 0 0 0 34
Charcot-Marie-Tooth disease 34 0 0 0 0 0 0 0 0 0 34
Bietti crystalline corneoretinal dystrophy 33 0 0 0 0 0 0 0 0 0 33
Hereditary pancreatitis 29 0 0 0 3 1 0 0 0 0 33
Holoprosencephaly 3 26 0 0 0 7 0 0 0 0 0 33
Leukodystrophy, hypomyelinating, 6 32 0 0 0 0 0 0 0 0 0 32
Mitochondrial DNA depletion syndrome 2 32 0 0 0 0 0 0 0 0 0 32
Brown-Vialetto-Van Laere syndrome 1 31 0 0 0 0 0 0 0 0 0 31
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 26 0 0 0 5 0 0 0 0 0 31
Usher syndrome, type 1 21 9 0 0 1 0 0 0 0 0 31
Pallister-Hall syndrome 30 0 0 0 0 0 0 0 0 0 30
Pseudo-Hurler polydystrophy 29 0 0 0 0 0 0 0 0 0 29
Hermansky-Pudlak syndrome 1 24 0 0 0 4 0 0 0 0 0 28
Myopathy, distal, 1 25 0 0 0 3 0 0 0 0 0 28
Skeletal dysplasia 28 0 0 0 0 0 0 0 0 0 28
Speech-language disorder 1 28 0 0 0 0 0 0 0 0 0 28
Carney complex, type 1 27 0 0 0 0 0 0 0 0 0 27
Myotonia congenita 27 0 0 0 0 0 0 0 0 0 27
Roberts-SC phocomelia syndrome 26 0 0 0 1 0 0 0 0 0 27
Congenital myopathy with fiber type disproportion 26 0 0 0 0 0 0 0 0 0 26
Hyperkalemic Periodic Paralysis Type 1 22 0 0 0 4 0 0 0 0 0 26
Mucolipidosis type IV 26 0 0 0 0 0 0 0 0 0 26
Bardet-Biedl syndrome 9 0 0 0 16 0 0 0 0 0 25
Charcot-Marie-Tooth disease, demyelinating, type 1b 25 0 0 0 0 0 0 0 0 0 25
Kindler's syndrome 25 0 0 0 0 0 0 0 0 0 25
Spinocerebellar ataxia 14 25 0 0 0 0 0 0 0 0 0 25
Aplastic anemia 24 0 0 0 0 0 0 0 0 0 24
Ethylmalonic encephalopathy 24 0 0 0 0 0 0 0 0 0 24
Hemochromatosis type 3 16 0 0 0 8 0 0 0 0 0 24
Carnitine palmitoyltransferase II deficiency 20 0 0 0 3 0 0 0 0 0 23
Epileptic encephalopathy, childhood-onset 23 0 0 0 0 0 0 0 0 0 23
Hyperekplexia hereditary 23 0 0 0 0 0 0 0 0 0 23
Poikiloderma with neutropenia 23 0 0 0 0 0 0 0 0 0 23
Genetic prion diseases 18 0 0 0 4 0 0 0 0 0 22
Aicardi Goutieres syndrome 5 21 0 0 0 0 0 0 0 0 0 21