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 |
---|---|---|---|---|---|
89 | 75 | 72 | 5 | 0 | 241 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
---|---|---|---|---|---|
ABCA3 | 1 | 2 | 1 | 0 | 4 |
LOC102724058, SCN1A | 2 | 1 | 0 | 1 | 4 |
RYR1 | 1 | 0 | 3 | 0 | 4 |
DCHS1 | 0 | 0 | 2 | 1 | 3 |
NSD1 | 1 | 2 | 0 | 0 | 3 |
ADAR | 0 | 0 | 2 | 0 | 2 |
ALPL | 2 | 0 | 0 | 0 | 2 |
ARID1B | 2 | 0 | 0 | 0 | 2 |
BCL11A | 1 | 1 | 0 | 0 | 2 |
CACNA1A | 0 | 0 | 2 | 0 | 2 |
COL1A1 | 1 | 1 | 0 | 0 | 2 |
COL7A1 | 1 | 1 | 0 | 0 | 2 |
CREBBP | 1 | 1 | 0 | 0 | 2 |
DEPDC5 | 0 | 1 | 1 | 0 | 2 |
EARS2 | 1 | 1 | 0 | 0 | 2 |
FARS2 | 0 | 2 | 0 | 0 | 2 |
FAT4 | 0 | 0 | 1 | 1 | 2 |
FRRS1L | 0 | 2 | 0 | 0 | 2 |
GFM1 | 2 | 0 | 0 | 0 | 2 |
GTPBP3 | 0 | 2 | 0 | 0 | 2 |
HIBCH | 0 | 2 | 0 | 0 | 2 |
HYDIN | 0 | 1 | 1 | 0 | 2 |
KMT2D | 2 | 0 | 0 | 0 | 2 |
NBAS | 1 | 1 | 0 | 0 | 2 |
NEK1 | 0 | 0 | 2 | 0 | 2 |
NF1 | 1 | 1 | 0 | 0 | 2 |
NR2F1 | 0 | 1 | 1 | 0 | 2 |
OBSL1 | 0 | 0 | 2 | 0 | 2 |
PEX6 | 0 | 1 | 1 | 0 | 2 |
PHIP | 1 | 1 | 0 | 0 | 2 |
PIK3R1 | 2 | 0 | 0 | 0 | 2 |
PTEN | 2 | 0 | 0 | 0 | 2 |
QARS1 | 0 | 2 | 0 | 0 | 2 |
STAT1 | 2 | 0 | 0 | 0 | 2 |
SZT2 | 0 | 2 | 0 | 0 | 2 |
TMCO1 | 1 | 1 | 0 | 0 | 2 |
TNFRSF13B | 0 | 0 | 2 | 0 | 2 |
TP53 | 2 | 0 | 0 | 0 | 2 |
TYR | 2 | 0 | 0 | 0 | 2 |
USH2A | 1 | 0 | 1 | 0 | 2 |
USP7 | 0 | 0 | 2 | 0 | 2 |
XDH | 0 | 0 | 2 | 0 | 2 |
ACTA1 | 1 | 0 | 0 | 0 | 1 |
AHDC1 | 1 | 0 | 0 | 0 | 1 |
AHI1 | 0 | 0 | 1 | 0 | 1 |
ALG13 | 0 | 1 | 0 | 0 | 1 |
ANK2 | 0 | 1 | 0 | 0 | 1 |
AP1B1 | 0 | 0 | 1 | 0 | 1 |
ARFGEF1, CSPP1 | 0 | 0 | 1 | 0 | 1 |
ASXL3 | 1 | 0 | 0 | 0 | 1 |
ATP1A2 | 0 | 1 | 0 | 0 | 1 |
ATRX | 1 | 0 | 0 | 0 | 1 |
BCORL1 | 0 | 0 | 1 | 0 | 1 |
BMPR2 | 0 | 0 | 1 | 0 | 1 |
BPTF | 1 | 0 | 0 | 0 | 1 |
BRCA2 | 1 | 0 | 0 | 0 | 1 |
C2CD3, LOC121392929 | 0 | 0 | 1 | 0 | 1 |
CACNA1D | 0 | 1 | 0 | 0 | 1 |
CAMTA1 | 1 | 0 | 0 | 0 | 1 |
CASR | 0 | 0 | 1 | 0 | 1 |
CCDC65 | 1 | 0 | 0 | 0 | 1 |
CEL | 0 | 0 | 1 | 0 | 1 |
CHD7 | 1 | 0 | 0 | 0 | 1 |
CHEK2 | 1 | 0 | 0 | 0 | 1 |
CHN1 | 0 | 1 | 0 | 0 | 1 |
CIITA | 0 | 0 | 1 | 0 | 1 |
CLCN2 | 0 | 0 | 1 | 0 | 1 |
CLN6 | 1 | 0 | 0 | 0 | 1 |
COL17A1 | 1 | 0 | 0 | 0 | 1 |
COL2A1 | 1 | 0 | 0 | 0 | 1 |
COL5A2 | 0 | 0 | 1 | 0 | 1 |
COL6A2 | 0 | 0 | 1 | 0 | 1 |
COL6A3 | 0 | 0 | 1 | 0 | 1 |
COPA | 1 | 0 | 0 | 0 | 1 |
CPT2, LOC129930561 | 1 | 0 | 0 | 0 | 1 |
CTCF | 1 | 0 | 0 | 0 | 1 |
DCC | 0 | 1 | 0 | 0 | 1 |
DDX3X | 1 | 0 | 0 | 0 | 1 |
DES | 0 | 0 | 1 | 0 | 1 |
DNAH11 | 0 | 0 | 1 | 0 | 1 |
DNAH5 | 0 | 0 | 1 | 0 | 1 |
DNAJC21 | 1 | 0 | 0 | 0 | 1 |
DNMT1 | 0 | 0 | 1 | 0 | 1 |
DPP6 | 0 | 1 | 0 | 0 | 1 |
DPYD | 1 | 0 | 0 | 0 | 1 |
DYNC1H1 | 0 | 1 | 0 | 0 | 1 |
DYNC2H1 | 0 | 0 | 1 | 0 | 1 |
DYNC2I1 | 0 | 1 | 0 | 0 | 1 |
DYRK1A | 0 | 1 | 0 | 0 | 1 |
EEF1A2 | 0 | 1 | 0 | 0 | 1 |
EFTUD2 | 1 | 0 | 0 | 0 | 1 |
EIF2B5 | 1 | 0 | 0 | 0 | 1 |
ERCC8 | 1 | 0 | 0 | 0 | 1 |
ERF | 0 | 0 | 1 | 0 | 1 |
EXOSC3 | 1 | 0 | 0 | 0 | 1 |
FAM111B | 0 | 1 | 0 | 0 | 1 |
FBN1 | 1 | 0 | 0 | 0 | 1 |
FGF14 | 0 | 1 | 0 | 0 | 1 |
FKBP10 | 1 | 0 | 0 | 0 | 1 |
FLNA | 0 | 0 | 1 | 0 | 1 |
FLNB | 0 | 1 | 0 | 0 | 1 |
FOXN1 | 0 | 1 | 0 | 0 | 1 |
FOXP1 | 1 | 0 | 0 | 0 | 1 |
FOXP2 | 0 | 0 | 1 | 0 | 1 |
FOXP3 | 1 | 0 | 0 | 0 | 1 |
GABRB3 | 0 | 0 | 1 | 0 | 1 |
GATA3 | 1 | 0 | 0 | 0 | 1 |
GATA4 | 0 | 0 | 1 | 0 | 1 |
GATAD2B | 1 | 0 | 0 | 0 | 1 |
GJB2 | 0 | 1 | 0 | 0 | 1 |
GNS | 0 | 0 | 1 | 0 | 1 |
GRID2 | 0 | 1 | 0 | 0 | 1 |
GRIN1 | 0 | 1 | 0 | 0 | 1 |
HERC2 | 0 | 0 | 1 | 0 | 1 |
HRAS, LRRC56 | 1 | 0 | 0 | 0 | 1 |
IDS | 0 | 0 | 1 | 0 | 1 |
IGF2, INS-IGF2 | 0 | 1 | 0 | 0 | 1 |
IGHMBP2 | 1 | 0 | 0 | 0 | 1 |
IL2RG | 0 | 1 | 0 | 0 | 1 |
INPP5E | 1 | 0 | 0 | 0 | 1 |
ITGB4 | 0 | 1 | 0 | 0 | 1 |
JAK3 | 0 | 0 | 1 | 0 | 1 |
KANSL1 | 1 | 0 | 0 | 0 | 1 |
KAT6A | 1 | 0 | 0 | 0 | 1 |
KCNJ6 | 0 | 1 | 0 | 0 | 1 |
KCNQ1 | 0 | 1 | 0 | 0 | 1 |
KIF1A | 0 | 0 | 1 | 0 | 1 |
KMT2B | 0 | 1 | 0 | 0 | 1 |
LDLR | 1 | 0 | 0 | 0 | 1 |
LOC125467768, PCDH19 | 0 | 0 | 1 | 0 | 1 |
LOC126861406, NCAPD3 | 0 | 1 | 0 | 0 | 1 |
LOC126861898, MYH7 | 0 | 1 | 0 | 0 | 1 |
LOC126862264, MEFV | 1 | 0 | 0 | 0 | 1 |
MED25 | 0 | 0 | 1 | 0 | 1 |
MEFV | 0 | 0 | 1 | 0 | 1 |
MEN1 | 0 | 0 | 1 | 0 | 1 |
MLH1 | 0 | 0 | 1 | 0 | 1 |
MT-ND1 | 0 | 1 | 0 | 0 | 1 |
MTM1 | 1 | 0 | 0 | 0 | 1 |
MYH8, MYHAS | 0 | 0 | 1 | 0 | 1 |
MYLK | 0 | 0 | 1 | 0 | 1 |
MYO15A | 0 | 0 | 0 | 1 | 1 |
MYOC | 0 | 1 | 0 | 0 | 1 |
NAGLU | 0 | 1 | 0 | 0 | 1 |
NKX2-1, SFTA3 | 0 | 1 | 0 | 0 | 1 |
PACS1 | 1 | 0 | 0 | 0 | 1 |
PAX8 | 0 | 0 | 1 | 0 | 1 |
PEX2 | 1 | 0 | 0 | 0 | 1 |
PGAP3 | 1 | 0 | 0 | 0 | 1 |
PIK3CA | 0 | 1 | 0 | 0 | 1 |
PIK3R2 | 0 | 0 | 1 | 0 | 1 |
PKHD1 | 1 | 0 | 0 | 0 | 1 |
PLAA | 0 | 1 | 0 | 0 | 1 |
PLP1, RAB9B | 0 | 1 | 0 | 0 | 1 |
PMS2 | 1 | 0 | 0 | 0 | 1 |
POLG, POLGARF | 0 | 0 | 1 | 0 | 1 |
PPP2R1A | 1 | 0 | 0 | 0 | 1 |
PTPN11 | 1 | 0 | 0 | 0 | 1 |
PUF60 | 1 | 0 | 0 | 0 | 1 |
RAC2 | 0 | 1 | 0 | 0 | 1 |
RAG2 | 0 | 1 | 0 | 0 | 1 |
RB1 | 1 | 0 | 0 | 0 | 1 |
RPS26 | 1 | 0 | 0 | 0 | 1 |
SCN5A | 0 | 0 | 1 | 0 | 1 |
SCNN1A | 0 | 0 | 1 | 0 | 1 |
SETD2 | 0 | 1 | 0 | 0 | 1 |
SETD5 | 1 | 0 | 0 | 0 | 1 |
SF3B4 | 1 | 0 | 0 | 0 | 1 |
SFTPC | 0 | 1 | 0 | 0 | 1 |
SHOC2 | 0 | 1 | 0 | 0 | 1 |
SLC12A1 | 0 | 0 | 1 | 0 | 1 |
SLC6A1 | 0 | 1 | 0 | 0 | 1 |
SLC9A6 | 0 | 1 | 0 | 0 | 1 |
SMARCB1 | 1 | 0 | 0 | 0 | 1 |
SMC1A | 1 | 0 | 0 | 0 | 1 |
SOX3 | 0 | 0 | 1 | 0 | 1 |
SPTA1 | 0 | 1 | 0 | 0 | 1 |
SYNE2 | 0 | 0 | 1 | 0 | 1 |
TBR1 | 0 | 1 | 0 | 0 | 1 |
TCOF1 | 1 | 0 | 0 | 0 | 1 |
TGFB1 | 1 | 0 | 0 | 0 | 1 |
TNNT3 | 0 | 0 | 1 | 0 | 1 |
TRH | 0 | 0 | 1 | 0 | 1 |
TRPM4 | 0 | 0 | 0 | 1 | 1 |
TTN | 0 | 1 | 0 | 0 | 1 |
TTR | 1 | 0 | 0 | 0 | 1 |
VANGL1 | 0 | 0 | 1 | 0 | 1 |
VWF | 1 | 0 | 0 | 0 | 1 |
WFS1 | 1 | 0 | 0 | 0 | 1 |
XIAP | 0 | 1 | 0 | 0 | 1 |
ZC4H2 | 0 | 1 | 0 | 0 | 1 |