ClinVar Miner

Variants from Clinical Genetics, Academic Medical Center

Location: Netherlands  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
457 130 1219 1571 6814 10191

Gene and significance breakdown #

Total genes and gene combinations: 1012
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 5 32 212 68 812 1129
MYBPC3 33 1 40 6 54 134
RYR2 2 0 18 5 108 133
FLNC 4 0 18 5 99 126
MYH6 0 0 26 5 91 122
SCN5A 11 0 20 6 70 107
DSP 5 1 18 2 80 106
MYH7 15 6 22 3 57 103
USH2A 19 6 22 20 20 87
APOB 1 0 7 16 62 86
PRDM16 0 0 16 6 64 86
LAMA4 0 0 10 7 62 79
RBM20 2 0 14 7 52 75
LDLR 33 6 2 7 23 71
MYPN 0 0 11 5 54 70
ADGRV1 0 0 8 16 44 68
DSG2 1 0 7 4 52 64
PKP2 9 0 12 9 34 64
SYNE1 0 0 4 7 52 63
TSC2 0 0 0 32 31 63
AKAP9 0 0 4 17 38 59
ALMS1 4 1 0 13 40 58
RP1L1 1 0 3 9 45 58
ALPK3 2 0 10 1 44 57
ACTN2 0 0 11 5 40 56
POLE 0 0 0 16 38 54
HCN4 2 0 12 3 35 52
APC 0 0 1 25 25 51
CACNA1C 1 0 8 4 37 50
CTNNA3 0 0 10 0 40 50
VCL 0 0 11 1 38 50
LDB3 0 0 8 4 37 49
ABCA4 18 3 13 6 8 48
ATM 0 0 2 10 36 48
COL6A3 2 0 1 3 41 47
ANK2 0 0 2 4 39 45
SCN10A 0 0 6 11 28 45
LMNA 7 2 10 2 23 44
TNNT2 4 1 12 4 23 44
DSC2 1 0 6 5 31 43
CDH23 2 1 8 7 23 41
DYNC1H1 1 0 4 11 24 40
FAT4 0 0 1 6 33 40
JUP 0 0 5 0 35 40
DST 0 0 10 16 13 39
JPH2 0 0 9 4 26 39
MSH6 3 0 5 13 18 39
SETX 0 0 1 11 26 38
VPS13B 0 1 4 27 6 38
WFS1 1 2 7 13 14 37
BAG3 2 0 3 2 29 36
TMEM43 0 0 3 6 27 36
ABCC9 0 0 2 4 29 35
COL6A1 3 1 0 0 31 35
GNAS 0 0 3 14 18 35
PRKAG2 1 0 5 3 26 35
RELN 0 0 0 6 29 35
MYO7A 3 1 6 6 18 34
POLD1 0 0 1 9 24 34
DES 1 2 7 1 22 33
KCNQ1 9 1 3 2 18 33
RYR1 0 0 0 3 30 33
DCHS1 0 0 0 6 26 32
MSH2 2 0 3 9 18 32
NEXN 0 0 14 2 16 32
PMS2 1 0 0 7 24 32
CYP27A1 6 1 5 11 8 31
SPG11 0 0 5 7 19 31
WNK1 0 0 1 7 23 31
ABCC6 2 0 2 3 23 30
AXIN2 1 0 1 16 12 30
CHD7 0 0 2 2 26 30
MYH14 0 0 6 8 16 30
SYNE2 0 0 0 3 27 30
DYSF 0 0 0 6 23 29
KCNH2 0 1 4 4 20 29
LRP5 0 0 3 8 18 29
ANKRD1 0 0 4 0 24 28
CACNB2 0 0 2 4 22 28
COL6A2 0 0 3 2 23 28
MLH1 1 0 5 6 16 28
NPC1 1 0 0 7 20 28
NPHP4 0 0 6 5 17 28
PCDH15 0 0 3 7 18 28
A2ML1 0 0 0 2 25 27
EYS 8 0 3 4 12 27
JAG1 0 0 0 3 24 27
MAGEL2 0 1 3 15 8 27
CACNA1D 0 0 5 3 18 26
CACNA2D1 0 0 2 1 23 26
LYST 0 0 1 2 23 26
TSC1 0 0 1 14 11 26
MIB1 0 1 3 0 21 25
MUTYH 8 0 3 8 6 25
MYH3 0 0 0 0 25 25
SCN1A, SCN9A 0 0 5 7 13 25
DNMT1 0 0 1 8 15 24
KIF1A 0 0 3 12 9 24
LAMA2 0 0 0 6 18 24
TRPM4 0 0 3 2 19 24
TRPV4 0 0 3 4 17 24
ARHGEF28 0 0 0 1 22 23
CDH1 0 0 0 8 15 23
COL11A1 0 0 2 6 15 23
GALC 0 0 1 5 17 23
TPM1 5 1 2 0 15 23
ATP7B 0 0 0 0 22 22
CALR3 0 0 4 1 17 22
CASQ2 0 0 4 1 17 22
INF2 0 0 0 2 20 22
MTTP 0 1 1 10 10 22
TNNI3 4 2 1 0 15 22
IGHMBP2 6 0 2 2 11 21
CEP290 5 0 2 5 8 20
DOCK6 1 0 0 6 13 20
GLI2 0 0 0 7 13 20
KIF1B 0 0 1 5 14 20
LAMP2 0 0 2 4 14 20
LOC126861896, MYH6 0 0 5 0 15 20
PCSK9 0 1 2 2 15 20
TG 1 0 2 8 9 20
TRDN 0 0 1 1 18 20
FIG4 1 0 0 2 16 19
MET 0 0 0 5 14 19
SCN1B 0 0 1 1 17 19
ABCG8 3 0 2 2 11 18
CPLANE1 0 0 1 4 13 18
KIF7 0 0 0 2 16 18
MAPT 0 0 0 1 17 18
PLEC 0 0 2 5 11 18
DMD 0 0 0 1 16 17
IGSF1 1 0 0 3 13 17
MFN2 2 0 1 5 9 17
PTEN 3 0 0 5 9 17
SCN11A 0 0 5 4 8 17
VCAN 0 0 1 5 11 17
CSRP3 0 0 8 1 7 16
HSALR1, PIEZO1 0 0 0 4 12 16
IFT140 0 0 3 2 11 16
LOC101927055, TTN 0 0 1 1 14 16
LOC126806432, TTN 0 0 0 5 11 16
MYOZ2 0 0 3 2 11 16
PEX1 1 0 1 3 11 16
RP1 5 0 2 3 6 16
AARS1 0 0 3 3 9 15
ARHGEF10 0 0 0 4 11 15
CFH 0 0 1 5 9 15
CNGB1 1 0 1 3 10 15
EMD 0 0 3 0 12 15
IDUA 0 0 0 3 12 15
LOC126806422, TTN 0 1 2 1 11 15
LOC126806425, TTN 0 1 5 0 9 15
LOC126806430, TTN 0 0 2 0 13 15
WDR19 1 0 1 3 10 15
ABCA1 0 0 2 3 9 14
ARSA 1 1 0 2 10 14
COL2A1 1 0 1 4 8 14
CPS1 0 0 0 2 12 14
DCTN1 0 0 4 2 8 14
ELP1 2 0 2 4 6 14
GARS1 0 0 2 0 12 14
LOC110121288, SCN10A 0 0 0 2 12 14
LOC114827851, MYH6 0 0 1 0 13 14
LOC126806424, TTN 1 2 2 1 8 14
MYL3 0 0 6 0 8 14
NOTCH1 0 0 0 0 14 14
PLA2G6 0 0 3 2 9 14
RPGR 4 1 1 3 5 14
SLC26A4 2 0 0 4 8 14
ABCG5, DYNC2LI1 3 0 2 2 6 13
ATM, C11orf65 0 0 2 4 7 13
CACNA1F 3 2 2 3 3 13
COL9A1 0 0 1 2 10 13
CTDP1 1 0 3 3 6 13
FHL1 0 0 2 1 10 13
GLA, RPL36A-HNRNPH2 3 0 0 1 9 13
GLI3 0 0 0 0 13 13
LOC110121269, SCN5A 2 0 6 1 4 13
NTRK1 2 0 1 2 8 13
PIEZO1 0 0 0 3 10 13
RPGRIP1 1 1 1 3 7 13
STK11 0 0 0 10 3 13
TSEN54 0 0 0 2 11 13
TTR 2 0 0 3 8 13
AHI1 2 0 0 1 9 12
AIPL1 1 0 3 2 6 12
CBL 0 0 1 4 7 12
CC2D2A 0 0 2 4 6 12
CRB1 3 1 5 2 1 12
DHTKD1 0 0 1 1 10 12
DUOX2 1 0 0 3 8 12
GPR179 0 0 1 2 9 12
HK1 0 0 1 1 10 12
IFRD1 0 0 1 1 10 12
LOC126861897, MHRT, MYH7 0 1 3 0 8 12
MLH3 0 0 0 0 12 12
PHYH 0 0 4 1 7 12
SBF1 0 0 1 4 7 12
SH3TC2 2 1 2 1 6 12
SLC12A6 2 0 0 4 6 12
SNRNP200 0 0 1 4 7 12
TRPM1 0 0 2 3 7 12
VCP 0 0 1 2 9 12
ABCC9, KCNJ8 0 0 2 2 7 11
AP3B1 0 0 2 1 8 11
COQ8A 0 0 0 0 11 11
ENG 1 0 1 4 5 11
FKRP 1 0 0 0 10 11
FLT4 1 0 0 3 7 11
KCND3 0 0 0 0 11 11
LOC126806427, TTN 0 0 2 0 9 11
MAN2B1 0 0 0 0 11 11
MTOR 0 0 0 5 6 11
MTR 0 0 0 1 10 11
MYL2 2 0 0 0 9 11
NEFH 0 0 2 1 8 11
OFD1 0 0 0 4 7 11
POMT1 0 0 0 1 10 11
RHO 4 0 2 3 2 11
SEPTIN9 1 0 2 1 7 11
SOS1 0 0 0 0 11 11
TUBGCP6 0 0 0 4 7 11
ACTC1, GJD2-DT 1 0 3 0 6 10
ASAH1 0 0 3 0 7 10
ATP7A 0 0 0 2 8 10
CACNA2D4 0 0 2 5 3 10
CAV3, OXTR 0 0 0 1 9 10
CBS 1 0 0 2 7 10
CDHR1 0 0 3 4 3 10
CNGA3 2 3 1 2 2 10
GBE1 0 0 1 3 6 10
LIPC 0 1 2 1 6 10
MAP2K2 0 0 0 1 9 10
MTHFR 0 0 1 1 8 10
NAGLU 1 0 1 3 5 10
NBAS 0 0 3 4 3 10
NPHP3, NPHP3-ACAD11 0 0 2 3 5 10
PCARE 1 0 1 3 5 10
PDE6A 0 2 2 3 3 10
PNPLA6 0 0 0 3 7 10
PRX 0 0 1 1 8 10
RPGRIP1L 0 0 0 3 7 10
SHANK3 0 0 0 1 9 10
TCAP 0 0 4 0 6 10
TNNC1 0 2 3 1 4 10
ZNF423 0 0 0 3 7 10
ACVRL1 1 0 0 3 5 9
ANO5 2 0 0 0 7 9
AP3D1 0 0 1 3 5 9
CAST, LOC101929710, PCSK1 0 0 1 2 6 9
CRYAB 0 0 2 0 7 9
DPP6 1 0 0 4 4 9
GLIS3 0 0 0 5 4 9
GLMN 3 0 0 3 3 9
GUCY2D 0 0 2 2 5 9
IFT172 0 0 0 2 7 9
LMF1 0 0 2 3 4 9
LOC126806429, TTN 0 0 2 0 7 9
LOC126806431, TTN 0 0 2 0 7 9
MHRT, MYH7 0 0 2 1 6 9
NKX2-5 0 0 0 1 8 9
PDE6B 3 1 1 1 3 9
PDZD7 0 0 3 2 4 9
PIK3CA 0 0 0 3 6 9
RNF43 0 0 0 1 8 9
SNTA1 0 0 1 3 5 9
TBCE 0 0 2 2 5 9
TTLL5 0 0 2 1 6 9
TYR 6 1 1 0 1 9
WHRN 0 0 3 3 3 9
APOE 0 0 1 4 3 8
BBS2 1 0 1 1 5 8
BMPR1A 0 0 1 1 6 8
CCT5 0 0 0 1 7 8
COL18A1, SLC19A1 0 0 1 2 5 8
DHX38 0 0 0 3 5 8
FGFR1 0 0 1 0 7 8
FLVCR1 0 0 2 0 6 8
GRM6, ZNF454 0 0 2 2 4 8
HGSNAT 2 0 2 1 3 8
IMPG2 3 0 2 0 3 8
KIF11 0 0 0 3 5 8
KIF5A 1 0 1 4 2 8
LEPR 0 0 0 1 7 8
LOC126806421, TTN 0 0 1 0 7 8
LOC126806423, TTN 0 1 0 0 7 8
LOC126806428, TTN 0 0 0 1 7 8
LOC126861898, MYH7 1 2 3 0 2 8
LRSAM1 0 0 0 3 5 8
NEK1 0 0 0 0 8 8
NOTCH2 0 0 0 0 8 8
NR2E3 2 1 2 0 3 8
OPA1 1 0 1 1 5 8
PLEKHG5 0 0 5 1 2 8
PRPH2 4 2 0 1 1 8
PXDN 0 0 1 2 5 8
RIMS1 0 0 1 2 5 8
SLC2A1 0 0 0 0 8 8
SLCO1B1 0 0 0 0 8 8
AKT1 0 0 0 1 6 7
ALS2 0 0 0 0 7 7
ANK2, LOC126807137 0 0 0 0 7 7
ASPH 0 0 0 3 4 7
ATL1 0 0 0 0 7 7
BEST1 2 0 2 1 2 7
BRAF 0 0 0 2 5 7
CDON 0 0 0 0 7 7
CERKL 1 0 0 3 3 7
CLN3 1 0 1 0 5 7
CNGA1, LOC101927157 0 2 2 2 1 7
COL12A1 0 0 0 2 5 7
COL9A2 0 0 0 1 6 7
DBT 0 0 0 1 6 7
DDC 0 0 0 1 6 7
DHFR, MSH3 0 0 0 0 7 7
DNM2 0 0 0 2 5 7
FAM161A 3 0 0 1 3 7
FOXE1 0 0 0 0 7 7
GPD1L 0 0 2 1 4 7
IDS, LOC106050102 1 0 0 1 5 7
IMPDH1 0 0 0 4 3 7
IMPG1 0 0 1 0 6 7
INPP5E 0 0 0 2 5 7
KCNA5 0 0 0 1 6 7
KCNE1 1 0 0 1 5 7
KCNJ5 0 0 0 1 6 7
LDB3, LOC110121486 0 0 0 1 6 7
LOC126806420, TTN 0 0 2 0 5 7
LOC126860392, RP1 0 1 2 1 3 7
LPL 4 0 1 0 2 7
LZTR1 0 1 0 0 6 7
MC4R 4 0 0 1 2 7
MERTK 0 0 1 2 4 7
MMACHC 1 0 2 1 3 7
MVK 1 0 0 3 3 7
MYBPC1 0 0 0 0 7 7
PDE6C 0 0 1 3 3 7
PIK3R2 0 0 0 0 7 7
PMM2 2 0 1 1 3 7
PPA2 0 2 1 0 4 7
PROM1 3 1 0 2 1 7
RELN, SLC26A5 0 0 0 0 7 7
RPE65 1 0 1 1 4 7
SAG 0 0 2 1 4 7
SCN3B 0 0 3 0 4 7
SGCD 0 0 0 0 7 7
SLC52A3 0 0 0 0 7 7
SOS2 0 0 0 0 7 7
TBX1 0 0 0 0 7 7
TPO 2 0 0 0 5 7
ADAMTS18 0 0 1 1 4 6
ALDH7A1 0 0 0 1 5 6
APOC2, APOC4-APOC2 1 1 1 0 3 6
ATRIP, ATRIP-TREX1, TREX1 0 1 0 2 3 6
BSCL2, HNRNPUL2-BSCL2 2 0 0 3 1 6
CAPN5 0 0 0 3 3 6
CCBE1 1 1 0 2 2 6
FPGT-TNNI3K, TNNI3K 0 0 2 1 3 6
FSCN2 0 0 1 0 5 6
GATA2 0 0 0 0 6 6
GJB1 1 1 2 1 1 6
HPS5 0 0 0 1 5 6
KARS1 0 0 2 0 4 6
KCNQ1, KCNQ1OT1 0 0 1 0 5 6
KCNV2 0 0 2 2 2 6
KRAS 0 0 0 3 3 6
LALTOP, TPO 1 0 0 0 5 6
MKKS 1 1 0 1 3 6
MKS1 0 1 0 3 2 6
MMUT 0 0 1 1 4 6
MTRR 0 0 0 1 5 6
MYH2, MYHAS 0 0 1 0 5 6
MYO5A 0 0 0 2 4 6
OCA2 3 0 2 0 1 6
OPN1MW 0 0 0 3 3 6
PAX6 0 0 0 2 4 6
POMGNT1, TSPAN1 0 0 0 1 5 6
RGS9 0 1 1 0 4 6
SELENON 0 0 0 1 5 6
SLC24A1 0 0 0 3 3 6
SLC6A19 0 0 0 2 4 6
SLC7A7 0 0 0 1 5 6
SMAD4 0 0 0 3 3 6
SPRED1 0 0 0 0 6 6
TAFAZZIN 0 0 0 0 6 6
TBK1 0 0 1 0 5 6
TMEM67 1 1 0 1 3 6
USH1C 0 0 1 1 4 6
ZNF408 0 0 2 0 4 6
ABHD12 1 0 1 0 3 5
ALG8 0 0 0 0 5 5
ANOS1 0 0 1 0 4 5
APTX 0 0 0 2 3 5
ASL 3 0 0 0 2 5
BBS1, ZDHHC24 1 1 1 1 1 5
BBS10 1 1 0 1 2 5
BBS4 0 0 2 0 3 5
BCKDHA 0 0 0 2 3 5
CCM2 0 0 0 1 4 5
CDH3 0 0 0 4 1 5
CEP164 0 0 1 2 2 5
CTNNA1 0 0 0 2 3 5
DTNBP1 0 0 1 1 3 5
DUOXA2 0 0 0 0 5 5
EMC1 0 0 0 1 4 5
FBLN5 0 0 1 0 4 5
FGD4 0 0 1 0 4 5
FGFR3 0 0 0 0 5 5
FOXE3, LINC01389 0 0 0 0 5 5
GATAD1, PEX1 0 0 0 1 4 5
GJB3 0 0 0 2 3 5
HCN4, LOC105370890, LOC126862173 0 0 1 1 3 5
HPS1 1 0 1 1 2 5
LIPA 1 1 0 1 2 5
LOC129935183, TTN 0 0 0 0 5 5
MAP2K1 0 0 0 0 5 5
MC1R 0 0 0 2 3 5
MPI 0 0 0 1 4 5
MTMR2 0 0 0 1 4 5
OTC 1 0 0 2 2 5
PAX8 0 0 0 0 5 5
PCCA 0 0 0 2 3 5
PEPD 0 0 0 3 2 5
PEX7 2 0 0 1 2 5
PITPNM3 0 0 0 3 2 5
PNP 0 0 0 0 5 5
POMT2 0 0 0 0 5 5
PRPF31 0 0 3 1 1 5
PRPF8 0 0 1 0 4 5
PTPN11 1 0 0 0 4 5
RBP3 0 0 0 1 4 5
SCN4B 0 0 2 1 2 5
SDCCAG8 0 0 1 2 2 5
SGSH 0 0 0 1 4 5
SLC52A2 0 0 2 2 1 5
SURF1 2 0 1 0 2 5
TDP1 0 0 0 1 4 5
TFG 0 0 1 0 4 5
TOPORS 0 0 1 2 2 5
TSHR 0 0 0 0 5 5
TUBB3 0 0 0 0 5 5
USH1G 0 0 1 0 4 5
VRK1 0 0 1 1 3 5
WDPCP 0 0 0 3 2 5
ABCB6 0 0 1 2 1 4
ABCD1, PLXNB3 0 0 0 1 3 4
ALMS1, LOC126806252 0 0 1 0 3 4
ANK2, LOC126807136 0 0 0 2 2 4
APOA1 1 0 0 1 2 4
ARHGEF18 0 0 0 2 2 4
ATXN2 0 0 0 0 4 4
ATXN7 0 0 1 2 1 4
BBS12 0 0 1 0 3 4
BBS9 0 0 1 0 3 4
BMP4 0 0 0 0 4 4
C1QTNF5, MFRP 0 0 1 1 2 4
CAPN3 0 0 0 1 3 4
CEP250 0 0 1 0 3 4
CEP41 0 0 1 1 2 4
CHCHD10 0 0 0 0 4 4
CNGB3 1 0 0 1 2 4
COL18A1 0 0 0 1 3 4
DLD 0 0 0 2 2 4
ECEL1 0 0 0 0 4 4
FBXO38 0 0 1 1 2 4
FKTN 0 0 0 2 2 4
FUS 0 0 0 0 4 4
GAN 0 0 1 2 1 4
GDAP1 3 0 0 0 1 4
GNA11 0 0 0 0 4 4
GNS 0 0 0 0 4 4
GPR143 1 0 0 0 3 4
HEXA 0 0 0 0 4 4
HEY2 0 0 0 1 3 4
HLCS 0 0 0 1 3 4
HPS4 0 0 0 0 4 4
HRAS, LRRC56 0 0 0 0 4 4
IDUA, SLC26A1 0 0 0 1 3 4
IQCB1 0 0 0 2 2 4
KCNE2, LOC105372791 0 0 0 3 1 4
KCNT1 0 0 0 0 4 4
KIAA1549 0 0 1 0 3 4
KRIT1 0 0 0 1 3 4
LOC114827850, MYL2 1 0 0 1 2 4
LOC126806433, TTN 0 0 0 0 4 4
MARS1 0 0 0 1 3 4
MITF 0 0 0 0 4 4
MLPH 0 0 0 0 4 4
MME 0 0 2 2 0 4
NAGS 0 0 0 0 4 4
NYX 0 0 0 0 4 4
OTX2 0 0 1 0 3 4
PCLO 0 0 0 0 4 4
PEX16 0 0 0 1 3 4
PIEZO2 0 0 0 2 2 4
PMP22 2 0 0 0 2 4
PRDM13 0 0 0 2 2 4
PROKR2 0 0 0 0 4 4
PROP1 0 0 0 2 2 4
PSEN2 0 0 0 0 4 4
RGR 0 0 1 1 2 4
RLBP1 0 0 1 1 2 4
SGCG 1 0 0 0 3 4
SLC38A8 0 0 0 0 4 4
SLC7A14 0 0 0 1 3 4
SOX3 0 0 0 0 4 4
STAMBP 0 0 0 0 4 4
TEK 0 0 0 0 4 4
TRAPPC11 0 0 0 1 3 4
TULP1 0 0 1 3 0 4
ABCG5, ABCG8 0 0 0 1 2 3
ACO2 0 0 0 0 3 3
ACVR2B 0 0 0 0 3 3
ADAM9 0 0 1 0 2 3
ADSL 0 0 0 1 2 3
APOC3 0 0 0 0 3 3
BBS5 0 0 0 1 2 3
BBS7 1 0 0 0 2 3
BCKDHB 1 0 0 0 2 3
BCOR 0 0 1 0 2 3
CA4 0 0 0 0 3 3
CALM3 0 0 0 0 3 3
CAV3 0 0 0 0 3 3
CDH2 0 0 0 1 2 3
CEP78 0 0 0 2 1 3
COQ2 0 0 0 0 3 3
CRPPA 0 0 0 0 3 3
CRX 0 1 0 2 0 3
DSG2, LOC130062340 0 0 0 1 2 3
ENG, LOC102723566 0 0 0 2 1 3
EPCAM 0 0 0 1 2 3
FPGT-TNNI3K, LRRC53, TNNI3K 0 0 2 0 1 3
GCDH 0 0 0 0 3 3
GDF6 0 0 0 1 2 3
GJA1 0 0 0 0 3 3
GNAQ 0 0 0 0 3 3
GNPTG 1 0 0 1 1 3
GPD1 0 0 2 1 0 3
GPHN, RDH11 0 0 0 1 2 3
HARS1 0 1 1 0 1 3
HESX1 0 0 0 1 2 3
HGF 0 0 0 1 2 3
HMBS 0 0 0 0 3 3
HPS6 0 0 0 0 3 3
HSPB1 0 0 1 1 1 3
HSPB8 1 0 0 0 2 3
IFT140, LOC126862260 0 0 0 1 2 3
INVS 0 0 0 1 2 3
IRS1 0 0 0 2 1 3
IRS4 0 0 0 0 3 3
KCNJ2 1 0 1 0 1 3
KCNJ8 0 0 0 0 3 3
LAMA1 0 0 0 2 1 3
LCAT 0 0 0 3 0 3
LEP 0 0 1 0 2 3
LMNA, LOC126805877 0 0 0 0 3 3
LOC108281134, SOX3 0 0 0 1 2 3
LOC126806068, RYR2 0 1 0 0 2 3
LOC126806426, TTN 1 0 1 0 1 3
LOC126862019, TDP1 0 0 0 0 3 3
LRIT3 0 0 0 0 3 3
MED25 0 0 0 1 2 3
MFSD8 0 0 1 0 2 3
MYH8, MYHAS 0 0 0 0 3 3
NDRG1 1 0 0 1 1 3
NDUFS1 0 0 0 1 2 3
NEFL 0 0 0 0 3 3
NEK2 0 0 1 0 2 3
PAX2 0 0 0 1 2 3
PDSS1 0 0 0 2 1 3
PHF6 0 0 1 2 0 3
PTPN14 0 0 0 1 2 3
QDPR 0 0 0 1 2 3
RAF1 0 0 0 0 3 3
RCBTB1 0 1 0 1 1 3
RNF170 0 0 0 1 2 3
SCN9A 0 0 0 1 2 3
SDHB 0 0 0 1 2 3
SIGMAR1 0 0 0 0 3 3
SLA, TG 0 0 0 0 3 3
SLC16A2 0 0 1 0 2 3
SPATA7 1 0 0 2 0 3
SPTLC1 0 0 0 0 3 3
TECPR2 0 0 0 2 1 3
THRB 0 0 0 0 3 3
TMEM126A 1 0 0 0 2 3
TNNT3 1 0 0 0 2 3
TRH 0 0 0 0 3 3
TTC8 1 0 0 0 2 3
UBA1 0 0 0 1 2 3
ABCD1 0 0 0 2 0 2
ABCG5 0 0 0 0 2 2
ADAMTS3 0 0 0 0 2 2
ADGRA3 0 0 1 0 1 2
AIFM1, LOC130068679, RAB33A 0 0 0 1 1 2
AIFM1, RAB33A 0 0 0 1 1 2
ALPK3, LOC111718493 0 0 1 0 1 2
ANGPT1 0 0 0 0 2 2
APOA5 1 0 0 0 1 2
APOB, LOC106560211 0 0 0 0 2 2
ARL2BP 0 0 0 2 0 2
ARNT2 0 0 1 0 1 2
ASRGL1 0 0 0 0 2 2
ASS1 0 0 0 1 1 2
ATF6 0 0 0 0 2 2
ATXN2, LOC130008791 0 0 0 0 2 2
ATXN2, LOC130008792 0 0 0 0 2 2
BBS1 1 0 0 0 1 2
BCOR, LOC126863239 0 0 0 1 1 2
BDNF 0 0 0 1 1 2
BICD2 0 0 1 0 1 2
BLOC1S6 0 0 0 1 1 2
BMPR2 0 0 0 0 2 2
C2orf49, FHL2 0 0 0 0 2 2
CALM2 0 0 0 0 2 2
CBL, LOC130006895 0 0 0 1 1 2
CDKL5, RS1 1 0 0 0 1 2
CEP128, TSHR 0 0 1 0 1 2
CFAP418 0 0 1 0 1 2
CFAP418, LOC130000784 1 0 0 0 1 2
CHD7, LOC126860403 0 0 0 1 1 2
CHM 0 0 0 0 2 2
CNNM4 0 0 0 0 2 2
COL1A1 0 0 0 0 2 2
COL6A3, LOC126806573 0 0 0 0 2 2
COX10 0 0 0 0 2 2
CPOX 0 0 0 0 2 2
CRYM 0 0 0 0 2 2
CSPP1 0 0 0 1 1 2
DAG1 0 0 0 0 2 2
DGUOK 0 0 0 1 1 2
DNAJB6 0 0 0 0 2 2
DPM2 0 0 0 0 2 2
DRP2 0 0 0 1 1 2
DYNC1H1, LOC126862060 0 0 1 0 1 2
EFEMP1 0 0 0 2 0 2
ESR1, SYNE1 0 0 0 0 2 2
EXOSC2 0 0 0 1 1 2
FLNC, LOC129999273 0 0 0 0 2 2
GATM 0 0 0 0 2 2
GNAT1 0 0 0 0 2 2
GPHN, RDH12 1 0 0 1 0 2
GPR161 0 0 0 1 1 2
GRM6 0 0 1 0 1 2
GRN 0 0 0 0 2 2
HCCS 0 0 0 0 2 2
HMCN1 0 0 0 2 0 2
HPRT1 0 0 0 0 2 2
HPS3 0 0 0 0 2 2
HRC, TRPM4 0 0 2 0 0 2
HSPB3 0 0 0 0 2 2
IDH3B 0 0 0 1 1 2
IFT172, LOC126806173 0 0 1 0 1 2
IFT27 0 0 1 0 1 2
IFT81 0 0 0 0 2 2
IKBKG 0 0 0 1 1 2
IVD 0 0 0 0 2 2
KIF7, LOC126862216 0 0 0 1 1 2
LAMA2, LOC123864065 0 0 0 0 2 2
LDLR, MIR6886 1 0 0 1 0 2
LDLRAP1 0 0 0 1 1 2
LHX3 0 0 1 0 1 2
LITAF 0 0 1 0 1 2
LMNB1 0 0 0 0 2 2
LOC101928008, SBF2 0 0 0 1 1 2
LOC108903148, OPTN 0 0 0 1 1 2
LOC110121427, LRMDA 0 0 0 1 1 2
LOC122152296, USH2A 0 0 0 2 0 2
LOC124629354, PRPH, TROAP 0 0 0 1 1 2
LOC126805765, NEXN 0 0 1 0 1 2
LOC126806067, RYR2 0 0 1 0 1 2
LOC126807124, MTTP 0 0 0 0 2 2
LOC126860130, RELN, SLC26A5 0 0 0 0 2 2
LOC126860782, SETX 0 0 0 2 0 2
LOC126862088, TRPM1 0 0 0 1 1 2
LOC126862902, RYR1 0 0 0 0 2 2
LOC129935184, TTN 0 0 1 0 1 2
LOC129992304, QDPR 0 0 0 0 2 2
LOC129993734, RETREG1 0 0 0 1 1 2
LOC130001681, SIGMAR1 0 0 0 1 1 2
LOC130004109, VCL 0 0 0 0 2 2
LOC130006596, MED17 0 0 0 0 2 2
LOC130009266, POLE 0 0 0 1 1 2
LOC130055387, NRL 1 0 0 0 1 2
LOC130061271, MKS1 0 0 0 2 0 2
LOC130062254, MIB1 0 0 1 0 1 2
LOC132089829, MYPN 0 0 0 0 2 2
LURAP1L, TYRP1 0 1 0 0 1 2
MAK 0 0 0 1 1 2
MCHR1 0 0 1 1 0 2
MMAB, MVK 0 0 0 0 2 2
MORC2 0 0 0 1 1 2
MPZ 2 0 0 0 0 2
NCAPH2, SCO2 0 0 0 2 0 2
NCAPH2, SCO2, TYMP 0 0 0 0 2 2
NDP 0 0 1 0 1 2
NGF 0 0 0 0 2 2
NIPA1 0 0 0 1 1 2
NMNAT1 0 1 0 0 1 2
NPC2 0 0 0 0 2 2
NPHP1 1 0 0 0 1 2
NRL 0 0 0 1 1 2
NTHL1 0 0 1 0 1 2
OPA3 0 0 1 1 0 2
OPN1LW 0 0 0 1 1 2
OPTN 0 0 0 0 2 2
OR2W3 0 0 0 1 1 2
PANK2 0 0 0 1 1 2
PCCB 0 0 0 1 1 2
PCYT1A 0 0 0 2 0 2
PDE6G 0 0 0 0 2 2
PDSS2 0 0 0 0 2 2
PITX1 0 0 0 0 2 2
PKD1, TSC2 0 0 0 0 2 2
PNPO 0 0 0 0 2 2
POLR2F, SOX10 0 0 0 1 1 2
POMC 1 0 0 1 0 2
PPOX 0 0 0 1 1 2
PRNP 0 0 0 0 2 2
PROK2 0 0 0 0 2 2
PRPF6 0 0 0 2 0 2
PRPS1 0 0 0 0 2 2
RAB28 0 0 1 0 1 2
RANGRF, SLC25A35 0 0 0 0 2 2
RASA1 1 0 0 0 1 2
RD3 0 0 0 0 2 2
RGS9BP 0 0 2 0 0 2
RIT1 0 0 0 0 2 2
ROM1 0 0 0 1 1 2
RRAS 0 0 0 0 2 2
SAR1B 1 0 1 0 0 2
SCAPER 0 0 0 2 0 2
SEMA4A 0 0 0 0 2 2
SGCA 0 0 0 0 2 2
SHH 0 0 0 1 1 2
SHOC2 0 0 0 0 2 2
SIM1 0 0 0 2 0 2
SLC25A46 0 0 1 0 1 2
SLC5A5 0 0 1 0 1 2
SPTLC2 0 0 0 0 2 2
SQSTM1 0 0 0 0 2 2
SYN3, TIMP3 0 0 0 2 0 2
TMEM237 0 0 0 1 1 2
TPM2 0 0 0 0 2 2
TSEN15 0 0 0 0 2 2
TUBB1 0 0 0 0 2 2
TYRP1 0 0 2 0 0 2
UNC119 0 0 0 1 1 2
VAPB 0 0 0 2 0 2
ABCA1, NIPSNAP3B 0 0 0 1 0 1
ABCA4, LOC126805793 0 0 1 0 0 1
ABCA4, LOC126805794 0 0 0 1 0 1
ABHD12, LOC130065586 0 0 1 0 0 1
ABHD12, PYGB 0 0 0 0 1 1
ACBD6, LHX4 0 0 0 0 1 1
ACO2, POLR3H 0 0 0 1 0 1
ADGRV1, LOC129994205 0 0 0 0 1 1
AHR 0 0 0 1 0 1
AKAP9, CYP51A1 0 0 0 0 1 1
AKAP9, LOC121175350 0 0 0 1 0 1
ALAD 0 0 0 0 1 1
ANG, EGILA, RNASE4 0 0 0 0 1 1
ANGPT2, MCPH1 0 0 0 0 1 1
APOA5, LOC108491825 0 0 0 0 1 1
AREL1, MLH3 0 0 0 0 1 1
ARFGEF1, CSPP1 0 0 0 0 1 1
ARG1, MED23 0 0 0 0 1 1
ARHGEF10, LOC126860281 0 0 0 1 0 1
ARL3 0 0 0 0 1 1
ARL6 0 0 0 0 1 1
ARSG 0 0 0 1 0 1
ASPH, LOC130000490 0 0 0 0 1 1
ASTN2, TRIM32 0 0 1 0 0 1
ATL3, LNCROPM 0 0 0 0 1 1
ATXN7, LOC108660406, LOC129936979 0 0 0 0 1 1
ATXN7, LOC129936979 0 0 0 0 1 1
BBIP1 0 0 0 1 0 1
BLOC1S1-RDH5, RDH5 0 0 0 0 1 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 0 0 1 1
C10orf105, CDH23 0 0 0 0 1 1
C14orf39, SIX6 0 0 0 0 1 1
CABP4 0 0 0 0 1 1
CALM1 0 0 0 0 1 1
CALU, OPN1SW 0 0 0 1 0 1
CASD1, SGCE 0 0 0 0 1 1
CASK 0 0 0 0 1 1
CAV1 0 0 0 1 0 1
CC2D2A, FBXL5 0 0 0 0 1 1
CCM2, LOC132090779 0 0 0 1 0 1
CDCA3, GNB3 0 0 0 1 0 1
CEP85L, PLN 1 0 0 0 0 1
CERKL, LOC129935215 0 0 0 0 1 1
CETP 0 0 0 0 1 1
CETP, LOC130059064 0 0 0 0 1 1
CFAP410 0 0 0 0 1 1
CFAP410, LOC130066823 0 0 0 0 1 1
CISD2, LOC129992892 0 0 0 1 0 1
CLRN1 0 0 0 1 0 1
COL9A2, LOC129930261 0 0 0 0 1 1
COQ2, LOC112997540 0 0 0 0 1 1
COX10, LOC105943586 0 0 0 0 1 1
CRPPA, LOC129998005 0 0 0 0 1 1
CWC27 0 0 0 0 1 1
CYGB, PRCD 0 0 0 0 1 1
CYP4V2 0 0 0 0 1 1
CYP4V2, LOC129993526 0 0 0 0 1 1
DCAF8 0 0 0 0 1 1
DCT 0 0 1 0 0 1
DES, DES-LCR 0 0 0 0 1 1
DGAT2 0 0 0 1 0 1
DGUOK, LOC129934096 0 0 1 0 0 1
DHDDS 0 0 0 0 1 1
DHH 0 0 0 0 1 1
DMPK 0 0 0 0 1 1
DNAH10 0 0 0 0 1 1
DNAH10, LOC126861667 0 0 0 0 1 1
DNAJB2 0 0 0 1 0 1
DNMT1, LOC107080555 0 0 0 0 1 1
DRAM2 0 0 1 0 0 1
DSC2, DSCAS 0 0 0 0 1 1
DTHD1 0 0 1 0 0 1
DUOX2, DUOXA2 0 0 0 0 1 1
EGR2 0 0 0 0 1 1
EIF2S3 0 0 0 0 1 1
ELOVL4 0 0 0 0 1 1
ELP4, PAX6 0 0 0 1 0 1
EMILIN1 0 0 0 1 0 1
EPHB4 0 0 0 1 0 1
ESPN 0 0 0 0 1 1
EXOSC3 0 0 0 0 1 1
EXOSC8 0 0 0 0 1 1
FBXO11, MSH6 0 0 0 1 0 1
FGF8 0 0 0 0 1 1
FLT4, LOC126807632 0 0 0 0 1 1
FLVCR1, LOC129932486 0 0 0 0 1 1
G6PC1 1 0 0 0 0 1
GAMT 0 0 0 0 1 1
GATM, LOC130056991 0 0 0 1 0 1
GCDH, LOC126862860, SYCE2 0 0 0 0 1 1
GCH1, LOC130055692 0 0 0 1 0 1
GDAP1, LOC130000622 0 0 0 0 1 1
GDF2 0 0 0 1 0 1
GJA5 0 0 0 0 1 1
GJA5, LOC122128420 0 0 1 0 0 1
GJB2 0 0 0 0 1 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
GLE1 0 0 0 0 1 1
GMPPB 0 0 0 1 0 1
GNAT2 0 0 0 0 1 1
GPIHBP1 0 0 1 0 0 1
GRK1 0 0 0 0 1 1
GUCA1A, GUCA1ANB-GUCA1A 0 0 0 1 0 1
HARS1, LOC129994848 0 0 0 0 1 1
HGSNAT, LOC130000316 0 0 0 0 1 1
HINT1 0 0 0 0 1 1
HMX1 0 0 1 0 0 1
HNRNPA1 0 0 0 1 0 1
IDS 0 0 0 0 1 1
IFT140, LOC105371046 0 0 0 1 0 1
IFT172, KRTCAP3 0 0 1 0 0 1
IFT54 0 0 0 0 1 1
IFT74 0 0 0 1 0 1
IGHMBP2, LOC126861245 0 0 0 0 1 1
INF2, LOC130056630 0 0 0 0 1 1
INPPL1 0 0 0 0 1 1
IYD 0 0 0 0 1 1
KCNC3 0 0 0 1 0 1
KCNE3, LIPT2 0 0 0 0 1 1
KCNE5 0 0 1 0 0 1
KDR 0 0 0 0 1 1
KIDINS220 0 0 0 1 0 1
KIF1A, LOC126806583 0 0 0 1 0 1
KIF1B, LOC126805614 0 0 0 0 1 1
KIF1B, LOC129388446 0 0 1 0 0 1
KIZ 0 0 1 0 0 1
KLLN, LOC130004273, PTEN 0 0 0 0 1 1
LAMA1, LOC112543434 0 0 0 1 0 1
LAMA4, LOC126859766 0 0 0 0 1 1
LAS1L 0 0 0 1 0 1
LCA5 0 0 1 0 0 1
LHX4 0 0 0 0 1 1
LIPG 0 0 0 0 1 1
LMBRD1 0 0 0 0 1 1
LMNA, LOC129931597 0 0 0 0 1 1
LMX1B 0 0 0 1 0 1
LOC105369149, SBF2 0 0 0 0 1 1
LOC105378311, PCDH15 0 0 0 0 1 1
LOC112533671, TSEN54 0 0 0 0 1 1
LOC112577517, TOR1AIP1 0 0 0 1 0 1
LOC112806037, MERTK 0 0 1 0 0 1
LOC114827827, NPPA 0 0 0 0 1 1
LOC121815964, NFKB2 0 0 0 0 1 1
LOC123956210, SLC26A4 0 0 0 0 1 1
LOC126806253, STAMBP 0 0 0 0 1 1
LOC126806630, THRB 0 0 0 0 1 1
LOC126807238, TRAPPC11 0 0 0 0 1 1
LOC126807526, MATR3 0 0 0 1 0 1
LOC126859836, SYNE1 0 0 0 0 1 1
LOC126859837, SYNE1 0 0 0 0 1 1
LOC126860089, PCLO 0 0 0 0 1 1
LOC126860131, RELN 0 0 0 1 0 1
LOC126860531, NDRG1 0 0 0 1 0 1
LOC126861356, SCN4B 0 0 0 1 0 1
LOC126861538, MYO1A 0 0 0 1 0 1
LOC126861897, MYH7 0 0 0 0 1 1
LOC126862422, MLYCD 0 0 0 0 1 1
LOC126862493, MYH8, MYHAS 0 0 0 1 0 1
LOC126862494, MYH8, MYHAS 0 0 0 0 1 1
LOC126862500, MYH2, MYHAS 0 0 0 0 1 1
LOC126863188, SHANK3 0 0 0 0 1 1
LOC129929426, MFN2 0 0 0 0 1 1
LOC129931648, NTRK1 0 0 0 1 0 1
LOC129933377, ZNF513 0 0 0 0 1 1
LOC129935185, TTN 0 0 0 0 1 1
LOC129935186, TTN 0 0 1 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 0 0 1 1
LOC130004599, NFKB2 0 0 0 0 1 1
LOC130056709, NIPA1 0 0 0 0 1 1
LOC130059554, MLYCD 0 0 0 0 1 1
LOC130059555, MLYCD 0 0 0 0 1 1
LOC130060903, NAGLU 0 0 1 0 0 1
LOC130062255, MIB1 0 0 0 0 1 1
LOC130062899, STK11 0 0 0 0 1 1
LOC130063979, PIK3R2 0 0 0 0 1 1
LOC130064454, PRX 0 0 0 1 0 1
LOC130065345, PANK2 0 0 0 0 1 1
LOC130065680, SNTA1 0 0 0 0 1 1
LOC130068494, TIMM8A 0 0 0 0 1 1
LRMDA 0 1 0 0 0 1
MAP2K1, SNAPC5 0 0 0 0 1 1
MBD4 0 0 0 1 0 1
MC3R 0 0 0 1 0 1
MCM3AP 0 0 0 0 1 1
MCM9 0 0 0 0 1 1
MIR6811, MLPH 0 0 0 0 1 1
MLYCD 0 0 0 0 1 1
MMAA 0 0 0 0 1 1
MMAB 0 0 0 0 1 1
MMADHC 0 0 0 0 1 1
MSH3 0 0 0 1 0 1
MUTYH, TOE1 0 0 0 0 1 1
MYO1A 0 0 0 0 1 1
MYOT, PKD2L2-DT 0 0 0 0 1 1
NEUROD1 0 0 0 1 0 1
NFKB2 0 0 0 0 1 1
NKX2-1, SFTA3 0 0 0 1 0 1
NRAS 0 0 0 1 0 1
NTHL1, TSC2 1 0 0 0 0 1
NTRK1, SH2D2A 0 0 0 0 1 1
OAT 0 0 0 0 1 1
OPN1MW2, OPN1MW3 0 0 0 0 1 1
OPN1SW 0 0 0 0 1 1
PDCD10 0 0 0 1 0 1
PDGFRB 0 0 0 1 0 1
PDHX 0 0 0 1 0 1
PEX2 0 0 0 1 0 1
PFN1 0 0 0 0 1 1
PGK1 0 0 0 0 1 1
PLA2G5 0 0 0 0 1 1
PLD3, PRX 0 0 0 0 1 1
POC1B, POC1B-DUSP6 1 0 0 0 0 1
POMGNT1 0 0 0 1 0 1
POU1F1 0 0 0 0 1 1
PRDM12 0 0 0 0 1 1
PRDM16, PRDM16-DT 0 0 0 0 1 1
PRPF4 0 0 0 0 1 1
PSEN1 0 0 0 0 1 1
RAB7A 0 0 0 0 1 1
RARS2 0 0 0 0 1 1
RAX 0 0 0 0 1 1
RAX2 0 0 0 0 1 1
REEP1 0 0 0 0 1 1
RETREG1 0 0 0 0 1 1
RP2 1 0 0 0 0 1
RP9 0 0 0 0 1 1
S100PBP, YARS1 0 0 1 0 0 1
SAMD11 0 0 0 1 0 1
SBF2 0 0 0 0 1 1
SCARB1 0 0 1 0 0 1
SCN2B 0 0 0 0 1 1
SECISBP2 0 0 0 0 1 1
SEPSECS 0 0 0 0 1 1
SERPINA7 0 0 0 0 1 1
SLC24A5 1 0 0 0 0 1
SLC25A46, TMEM232 0 0 1 0 0 1
SLC45A2 0 0 0 0 1 1
SLMAP 0 0 0 0 1 1
SOX2, SOX2-OT 0 0 0 0 1 1
SPAST 0 0 0 0 1 1
SPG7 0 0 0 0 1 1
SPP2 0 0 0 0 1 1
STAP1 0 0 1 0 0 1
SYT2 0 0 0 0 1 1
TARDBP 0 0 0 1 0 1
TCF7L1 0 0 0 1 0 1
TEAD1 0 0 0 0 1 1
TECRL 0 0 0 0 1 1
TGIF1 0 0 0 1 0 1
TK2 0 0 0 0 1 1
TMEM216 0 0 0 0 1 1
TNNI2 0 0 0 0 1 1
TOR1A 0 0 0 0 1 1
TRIM2 0 0 0 0 1 1
TRNT1 0 0 0 1 0 1
TSEN34 0 0 0 0 1 1
TSHB 0 0 0 0 1 1
TTPA 0 0 0 1 0 1
TUB 0 0 0 0 1 1
TUBA4A 0 0 0 1 0 1
WARS1 0 0 0 0 1 1
YARS1 0 0 0 0 1 1
ZNF513 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 2
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 0 0 6814 6814
not provided 457 130 1219 1571 0 3377

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