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 | not provided | total |
---|---|---|---|---|---|---|
98 | 73 | 137 | 1 | 0 | 1 | 310 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
---|---|---|---|---|---|---|
MYO15A | 4 | 1 | 5 | 0 | 1 | 11 |
OTOG | 0 | 1 | 7 | 0 | 0 | 8 |
LOXHD1 | 0 | 1 | 6 | 0 | 0 | 7 |
GJB2 | 5 | 0 | 0 | 0 | 0 | 5 |
PAH | 3 | 2 | 0 | 0 | 0 | 5 |
AKAP9 | 0 | 0 | 4 | 0 | 0 | 4 |
RYR2 | 0 | 0 | 4 | 0 | 0 | 4 |
SCN5A | 2 | 0 | 2 | 0 | 0 | 4 |
ABCA4 | 3 | 0 | 0 | 0 | 0 | 3 |
AGL | 1 | 2 | 0 | 0 | 0 | 3 |
CD36 | 0 | 2 | 0 | 1 | 0 | 3 |
CFTR | 3 | 0 | 0 | 0 | 0 | 3 |
DHCR7 | 2 | 1 | 0 | 0 | 0 | 3 |
DSP | 0 | 1 | 2 | 0 | 0 | 3 |
FOXF1 | 1 | 2 | 0 | 0 | 0 | 3 |
G6PD | 3 | 0 | 0 | 0 | 0 | 3 |
OTOF | 0 | 0 | 3 | 0 | 0 | 3 |
PCDH15 | 1 | 0 | 2 | 0 | 0 | 3 |
POLG, POLGARF | 2 | 1 | 0 | 0 | 0 | 3 |
STRC | 0 | 1 | 2 | 0 | 0 | 3 |
TTN | 0 | 1 | 2 | 0 | 0 | 3 |
USH2A | 0 | 1 | 2 | 0 | 0 | 3 |
WHRN | 0 | 0 | 3 | 0 | 0 | 3 |
ANK2 | 0 | 0 | 2 | 0 | 0 | 2 |
ATM | 2 | 0 | 0 | 0 | 0 | 2 |
BBS10 | 1 | 1 | 0 | 0 | 0 | 2 |
BTD | 2 | 0 | 0 | 0 | 0 | 2 |
CACNA1D | 0 | 1 | 1 | 0 | 0 | 2 |
CDH23 | 0 | 0 | 2 | 0 | 0 | 2 |
CYP17A1 | 2 | 0 | 0 | 0 | 0 | 2 |
DNAH5 | 1 | 1 | 0 | 0 | 0 | 2 |
GNAS | 0 | 0 | 2 | 0 | 0 | 2 |
ITGA2B | 0 | 0 | 2 | 0 | 0 | 2 |
KCNB1 | 0 | 1 | 1 | 0 | 0 | 2 |
KCNQ1 | 1 | 1 | 0 | 0 | 0 | 2 |
LDLR | 1 | 1 | 0 | 0 | 0 | 2 |
MMACHC | 1 | 0 | 1 | 0 | 0 | 2 |
MUTYH | 1 | 1 | 0 | 0 | 0 | 2 |
MYH14 | 0 | 0 | 2 | 0 | 0 | 2 |
MYH7 | 1 | 0 | 1 | 0 | 0 | 2 |
MYPN | 0 | 0 | 2 | 0 | 0 | 2 |
NEXN | 0 | 0 | 2 | 0 | 0 | 2 |
NPC1 | 2 | 0 | 0 | 0 | 0 | 2 |
PYGM | 1 | 1 | 0 | 0 | 0 | 2 |
RASGRP2 | 0 | 1 | 1 | 0 | 0 | 2 |
RBM20 | 0 | 0 | 2 | 0 | 0 | 2 |
RNASEH2C | 0 | 1 | 1 | 0 | 0 | 2 |
RUNX1 | 0 | 1 | 1 | 0 | 0 | 2 |
SERPINA1 | 2 | 0 | 0 | 0 | 0 | 2 |
SHANK3 | 0 | 0 | 2 | 0 | 0 | 2 |
SI | 2 | 0 | 0 | 0 | 0 | 2 |
SLC12A3 | 2 | 0 | 0 | 0 | 0 | 2 |
SLC26A4 | 2 | 0 | 0 | 0 | 0 | 2 |
TBCEL-TECTA, TECTA | 0 | 0 | 2 | 0 | 0 | 2 |
TMC1 | 0 | 0 | 2 | 0 | 0 | 2 |
TPRN | 0 | 0 | 2 | 0 | 0 | 2 |
TRPM4 | 0 | 0 | 2 | 0 | 0 | 2 |
VCL | 0 | 0 | 2 | 0 | 0 | 2 |
VWF | 0 | 0 | 2 | 0 | 0 | 2 |
WNT10A | 1 | 1 | 0 | 0 | 0 | 2 |
AARS2, POLR1C | 0 | 0 | 1 | 0 | 0 | 1 |
ABCA3 | 0 | 1 | 0 | 0 | 0 | 1 |
ABCB11 | 1 | 0 | 0 | 0 | 0 | 1 |
ACADSB | 1 | 0 | 0 | 0 | 0 | 1 |
ACADVL | 0 | 1 | 0 | 0 | 0 | 1 |
ACTB | 0 | 0 | 1 | 0 | 0 | 1 |
ACTG1 | 0 | 0 | 1 | 0 | 0 | 1 |
ADAD2, ATP2C2, C16orf74, CIBAR2, COTL1, COX4I1, CRISPLD2, DNAAF1, EMC8, GINS2, GSE1, HSDL1, IRF8, KCNG4, KIAA0513, KLHL36, LINC01082, LOC654780, MBTPS1, MEAK7, MLYCD, NECAB2, OSGIN1, SLC38A8, TAF1C, USP10, WFDC1, ZDHHC7 | 0 | 1 | 0 | 0 | 0 | 1 |
ADGRV1 | 0 | 0 | 1 | 0 | 0 | 1 |
ALDOB | 0 | 1 | 0 | 0 | 0 | 1 |
ALMS1 | 0 | 0 | 1 | 0 | 0 | 1 |
ALPL | 0 | 1 | 0 | 0 | 0 | 1 |
AP4S1 | 0 | 1 | 0 | 0 | 0 | 1 |
APC | 1 | 0 | 0 | 0 | 0 | 1 |
ARSA | 0 | 0 | 1 | 0 | 0 | 1 |
ASPA, SPATA22 | 1 | 0 | 0 | 0 | 0 | 1 |
ASXL3 | 0 | 1 | 0 | 0 | 0 | 1 |
ATM, C11orf65 | 1 | 0 | 0 | 0 | 0 | 1 |
ATP7B | 0 | 1 | 0 | 0 | 0 | 1 |
BRCA1 | 1 | 0 | 0 | 0 | 0 | 1 |
CACNB2 | 0 | 0 | 1 | 0 | 0 | 1 |
CAV3, OXTR | 0 | 0 | 1 | 0 | 0 | 1 |
CCDST, FLG | 1 | 0 | 0 | 0 | 0 | 1 |
CENPJ, RNF17 | 0 | 1 | 0 | 0 | 0 | 1 |
CHAT | 0 | 0 | 1 | 0 | 0 | 1 |
CHD4 | 0 | 1 | 0 | 0 | 0 | 1 |
CHRNA4 | 0 | 0 | 1 | 0 | 0 | 1 |
CHRNA4, LOC126863087 | 0 | 0 | 1 | 0 | 0 | 1 |
CLCN1 | 0 | 1 | 0 | 0 | 0 | 1 |
COCH, LOC100506071 | 0 | 1 | 0 | 0 | 0 | 1 |
COL11A2 | 0 | 0 | 1 | 0 | 0 | 1 |
COL3A1 | 0 | 0 | 1 | 0 | 0 | 1 |
COL6A2 | 0 | 0 | 1 | 0 | 0 | 1 |
COL6A3 | 0 | 1 | 0 | 0 | 0 | 1 |
COL7A1 | 1 | 0 | 0 | 0 | 0 | 1 |
COL9A2 | 0 | 0 | 1 | 0 | 0 | 1 |
CPS1 | 0 | 1 | 0 | 0 | 0 | 1 |
CYP1B1 | 1 | 0 | 0 | 0 | 0 | 1 |
CYP24A1 | 1 | 0 | 0 | 0 | 0 | 1 |
DSC2 | 0 | 0 | 1 | 0 | 0 | 1 |
DSG2 | 0 | 0 | 1 | 0 | 0 | 1 |
DYNC1H1 | 0 | 0 | 1 | 0 | 0 | 1 |
EDAR, RANBP2 | 1 | 0 | 0 | 0 | 0 | 1 |
EFTUD2 | 1 | 0 | 0 | 0 | 0 | 1 |
ENAM | 0 | 1 | 0 | 0 | 0 | 1 |
ESPN | 0 | 0 | 1 | 0 | 0 | 1 |
EXOSC3 | 1 | 0 | 0 | 0 | 0 | 1 |
EYA1 | 0 | 1 | 0 | 0 | 0 | 1 |
FANCC | 0 | 1 | 0 | 0 | 0 | 1 |
FBLN5 | 0 | 0 | 1 | 0 | 0 | 1 |
FERMT3 | 0 | 0 | 1 | 0 | 0 | 1 |
FGF3 | 1 | 0 | 0 | 0 | 0 | 1 |
FLG | 0 | 1 | 0 | 0 | 0 | 1 |
GABRA1 | 0 | 1 | 0 | 0 | 0 | 1 |
GALT | 1 | 0 | 0 | 0 | 0 | 1 |
GATAD1, PEX1 | 1 | 0 | 0 | 0 | 0 | 1 |
GBA1, LOC106627981 | 1 | 0 | 0 | 0 | 0 | 1 |
GFI1B | 0 | 0 | 1 | 0 | 0 | 1 |
GLB1 | 0 | 1 | 0 | 0 | 0 | 1 |
GLDC | 1 | 0 | 0 | 0 | 0 | 1 |
GNE | 1 | 0 | 0 | 0 | 0 | 1 |
GP1BA | 0 | 0 | 1 | 0 | 0 | 1 |
GP9 | 0 | 1 | 0 | 0 | 0 | 1 |
GPHN | 0 | 0 | 1 | 0 | 0 | 1 |
GPHN, RDH12 | 0 | 1 | 0 | 0 | 0 | 1 |
HBB, LOC106099062, LOC107133510 | 1 | 0 | 0 | 0 | 0 | 1 |
HEXA | 1 | 0 | 0 | 0 | 0 | 1 |
HGF | 0 | 0 | 1 | 0 | 0 | 1 |
HNRNPU | 1 | 0 | 0 | 0 | 0 | 1 |
HSD17B10 | 0 | 0 | 1 | 0 | 0 | 1 |
HSD17B4 | 0 | 1 | 0 | 0 | 0 | 1 |
IDUA | 1 | 0 | 0 | 0 | 0 | 1 |
IDUA, SLC26A1 | 1 | 0 | 0 | 0 | 0 | 1 |
KANK1 | 0 | 0 | 1 | 0 | 0 | 1 |
KCNE1 | 0 | 1 | 0 | 0 | 0 | 1 |
KCNH2 | 1 | 0 | 0 | 0 | 0 | 1 |
LIPA | 1 | 0 | 0 | 0 | 0 | 1 |
LOC126806431, TTN | 0 | 0 | 1 | 0 | 0 | 1 |
LOC127814297, POU4F3 | 0 | 0 | 1 | 0 | 0 | 1 |
LOC130055403, TINF2 | 0 | 1 | 0 | 0 | 0 | 1 |
MAN1B1 | 1 | 0 | 0 | 0 | 0 | 1 |
MARVELD2 | 0 | 0 | 1 | 0 | 0 | 1 |
MCCC2 | 0 | 0 | 1 | 0 | 0 | 1 |
MFSD2A | 0 | 0 | 1 | 0 | 0 | 1 |
MLH1 | 0 | 1 | 0 | 0 | 0 | 1 |
MMAA | 1 | 0 | 0 | 0 | 0 | 1 |
MTFMT | 1 | 0 | 0 | 0 | 0 | 1 |
MYBPC3 | 0 | 1 | 0 | 0 | 0 | 1 |
MYH11, NDE1 | 0 | 0 | 1 | 0 | 0 | 1 |
MYH6 | 0 | 0 | 1 | 0 | 0 | 1 |
MYH9 | 1 | 0 | 0 | 0 | 0 | 1 |
MYO3A | 0 | 0 | 1 | 0 | 0 | 1 |
MYO6 | 0 | 0 | 1 | 0 | 0 | 1 |
MYO7A | 0 | 0 | 1 | 0 | 0 | 1 |
NBEAL2 | 0 | 0 | 1 | 0 | 0 | 1 |
NDUFAF5 | 0 | 1 | 0 | 0 | 0 | 1 |
NDUFS1 | 0 | 0 | 1 | 0 | 0 | 1 |
NGLY1 | 0 | 0 | 1 | 0 | 0 | 1 |
NPHS1 | 1 | 0 | 0 | 0 | 0 | 1 |
NR2E3 | 1 | 0 | 0 | 0 | 0 | 1 |
NR2F1 | 0 | 0 | 1 | 0 | 0 | 1 |
OBSL1 | 1 | 0 | 0 | 0 | 0 | 1 |
OCA2 | 0 | 1 | 0 | 0 | 0 | 1 |
OTOA | 0 | 0 | 1 | 0 | 0 | 1 |
PEX1 | 1 | 0 | 0 | 0 | 0 | 1 |
PEX7 | 1 | 0 | 0 | 0 | 0 | 1 |
PIGT | 0 | 0 | 1 | 0 | 0 | 1 |
PKHD1 | 0 | 1 | 0 | 0 | 0 | 1 |
PLEC | 0 | 1 | 0 | 0 | 0 | 1 |
PLXNA3 | 0 | 0 | 1 | 0 | 0 | 1 |
PMM2 | 1 | 0 | 0 | 0 | 0 | 1 |
PNKP | 0 | 0 | 1 | 0 | 0 | 1 |
POLR3A | 0 | 0 | 1 | 0 | 0 | 1 |
PTCHD1 | 0 | 0 | 1 | 0 | 0 | 1 |
RAB27A | 0 | 1 | 0 | 0 | 0 | 1 |
RAD51C | 1 | 0 | 0 | 0 | 0 | 1 |
RANBP2 | 0 | 0 | 1 | 0 | 0 | 1 |
RAPSN | 1 | 0 | 0 | 0 | 0 | 1 |
RHO | 1 | 0 | 0 | 0 | 0 | 1 |
RYR1 | 0 | 1 | 0 | 0 | 0 | 1 |
SELENON | 1 | 0 | 0 | 0 | 0 | 1 |
SGCD | 0 | 0 | 1 | 0 | 0 | 1 |
SIX1 | 0 | 1 | 0 | 0 | 0 | 1 |
SLC17A5 | 0 | 1 | 0 | 0 | 0 | 1 |
SLC25A13 | 0 | 1 | 0 | 0 | 0 | 1 |
SLC26A2 | 0 | 1 | 0 | 0 | 0 | 1 |
SLC2A10 | 0 | 1 | 0 | 0 | 0 | 1 |
SMPX | 0 | 1 | 0 | 0 | 0 | 1 |
SNTA1 | 0 | 0 | 1 | 0 | 0 | 1 |
SPG11 | 0 | 0 | 1 | 0 | 0 | 1 |
SQSTM1 | 0 | 1 | 0 | 0 | 0 | 1 |
STX11 | 0 | 1 | 0 | 0 | 0 | 1 |
STXBP2 | 0 | 0 | 1 | 0 | 0 | 1 |
TAF1 | 0 | 0 | 1 | 0 | 0 | 1 |
TG | 1 | 0 | 0 | 0 | 0 | 1 |
TMPO | 0 | 0 | 1 | 0 | 0 | 1 |
TMPRSS3 | 0 | 0 | 1 | 0 | 0 | 1 |
TNFRSF13B | 1 | 0 | 0 | 0 | 0 | 1 |
TNNI3 | 0 | 1 | 0 | 0 | 0 | 1 |
USH1C | 0 | 1 | 0 | 0 | 0 | 1 |
WDR45 | 1 | 0 | 0 | 0 | 0 | 1 |
WFS1 | 0 | 0 | 1 | 0 | 0 | 1 |
ZIC2 | 0 | 1 | 0 | 0 | 0 | 1 |