ClinVar Miner

Variants from Genetics and Molecular Pathology, SA Pathology

Location: Australia  Primary collection method: clinical testing
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 total
679 444 617 73 38 1851

Gene and significance breakdown #

Total genes and gene combinations: 789
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 26 5 23 8 8 70
F8 16 24 10 1 0 51
VWF 15 12 21 0 1 49
PALB2 14 2 10 2 1 29
BRCA1 15 3 4 2 4 28
MSH6 16 5 2 0 1 24
RB1 15 3 2 0 0 20
CHEK2 7 3 9 0 0 19
RET 2 1 5 0 9 17
USH2A 10 4 3 0 0 17
NF1 10 2 3 0 0 15
NF2 11 0 4 0 0 15
MSH2 10 1 2 1 0 14
MYBPC3 10 2 2 0 0 14
DNAH11 0 2 9 2 0 13
LDLR 7 5 1 0 0 13
ABCA4 9 2 1 0 0 12
BRIP1 2 2 5 3 0 12
GCK 3 6 3 0 0 12
HBB, LOC106099062, LOC107133510 8 3 1 0 0 12
LZTR1 3 4 5 0 0 12
MLH1 6 3 3 0 0 12
CASR 2 4 4 1 0 11
DNAH5 1 1 9 0 0 11
FOXC1 10 0 1 0 0 11
DUOX2 3 4 3 0 0 10
PAX6 9 0 0 0 0 9
PTPN11 9 0 0 0 0 9
RYR1 3 1 5 0 0 9
MYH7 2 2 4 0 0 8
MYH9 4 3 1 0 0 8
PITX2 6 0 2 0 0 8
FBN1 1 4 2 0 0 7
PMS2 0 3 2 1 1 7
PTEN 3 0 3 0 1 7
TGFBI 5 2 0 0 0 7
TP53 1 4 1 0 1 7
ACVRL1 1 4 1 0 0 6
ANKRD11 2 2 1 1 0 6
ATM, C11orf65 5 1 0 0 0 6
BRCA1, LOC126862571 4 0 0 0 2 6
CACNA1C 0 1 4 0 1 6
CFTR 2 0 3 1 0 6
COL2A1 1 3 2 0 0 6
COL3A1 1 1 4 0 0 6
F9 2 4 0 0 0 6
KMT2D 3 0 3 0 0 6
MYOC 2 0 4 0 0 6
NOTCH3 1 1 3 1 0 6
POLG 2 3 1 0 0 6
RAD51C 1 0 4 1 0 6
TSC2 4 1 1 0 0 6
ANKRD26 0 2 1 1 1 5
ATM 3 2 0 0 0 5
COL4A5 3 2 0 0 0 5
F7 0 3 1 1 0 5
FLCN 4 0 0 1 0 5
FOXC1, LOC129995601 2 1 2 0 0 5
HNF1A 2 3 0 0 0 5
HYDIN 0 0 4 1 0 5
PAH 5 0 0 0 0 5
ADGRV1 0 1 3 0 0 4
AGL 3 0 1 0 0 4
ALPL 3 1 0 0 0 4
APOB 1 0 2 0 1 4
BAP1 3 1 0 0 0 4
BEST1 0 3 1 0 0 4
CACNA1A 1 1 2 0 0 4
CCDC40 1 2 1 0 0 4
CHD7 3 1 0 0 0 4
CHST6 3 1 0 0 0 4
COL1A1 2 2 0 0 0 4
CREBBP 1 1 2 0 0 4
F11 0 4 0 0 0 4
FLNC 1 0 3 0 0 4
GRIN2B 1 3 0 0 0 4
HNF4A 0 3 1 0 0 4
KCNQ1 2 0 2 0 0 4
LOC107303340, VHL 2 1 1 0 0 4
MUTYH 2 1 1 0 0 4
NIPBL 2 1 1 0 0 4
PKD1 1 1 2 0 0 4
PRKN 2 0 2 0 0 4
RAD51D, RAD51L3-RFFL 0 0 4 0 0 4
RP1 2 0 2 0 0 4
RPE65 2 1 1 0 0 4
SCN5A 1 2 1 0 0 4
SDHB 2 2 0 0 0 4
SERPINC1 2 1 1 0 0 4
SH3TC2 2 1 1 0 0 4
TG 1 2 1 0 0 4
TSHR 2 1 0 1 0 4
TTN 0 4 0 0 0 4
ABCA3 0 0 2 1 0 3
ABCC8 2 0 1 0 0 3
ACADVL 1 2 0 0 0 3
ADAMTSL4 2 1 0 0 0 3
AIRE 3 0 0 0 0 3
ATP7B 0 2 1 0 0 3
CACNA1F 0 1 2 0 0 3
CBS 2 0 1 0 0 3
CDAN1 1 1 1 0 0 3
COL4A3, MFF-DT 0 1 2 0 0 3
CSRP3 0 0 3 0 0 3
CYLD 2 1 0 0 0 3
CYP1B1 2 0 1 0 0 3
DICER1 3 0 0 0 0 3
DNAAF5 0 1 2 0 0 3
DNAH8 0 0 3 0 0 3
DNAH9 0 1 2 0 0 3
DYSF 1 1 0 1 0 3
EARS2 1 1 1 0 0 3
EFTUD2 1 2 0 0 0 3
ELANE 0 1 1 1 0 3
ENG 2 1 0 0 0 3
EYS 0 3 0 0 0 3
FGFR3 3 0 0 0 0 3
FGG 1 2 0 0 0 3
GALT 3 0 0 0 0 3
GAS8 0 0 1 1 1 3
GFI1B 0 1 2 0 0 3
GJB1 3 0 0 0 0 3
HBA2, LOC106804612 2 1 0 0 0 3
HPS6 0 0 3 0 0 3
ITGA2B 1 0 2 0 0 3
KDM5C 0 2 1 0 0 3
KRIT1 3 0 0 0 0 3
LAMA2 3 0 0 0 0 3
LOC126862264, MEFV 1 0 2 0 0 3
LRBA 0 0 2 1 0 3
MEN1 0 2 1 0 0 3
NEB 2 0 1 0 0 3
NFKB1 0 2 1 0 0 3
NLRP12 0 1 1 1 0 3
PKHD1 0 0 3 0 0 3
POLR3B 1 1 1 0 0 3
PROS1 0 2 1 0 0 3
RAPSN 1 1 1 0 0 3
SALL1 1 0 1 0 1 3
SDHA 1 0 2 0 0 3
SDHD 3 0 0 0 0 3
SMARCA4 1 1 1 0 0 3
SMARCE1 1 2 0 0 0 3
SPAST 1 1 1 0 0 3
SPG7 2 0 1 0 0 3
TERT 0 2 1 0 0 3
TGFB3 0 0 3 0 0 3
TPM1 1 0 2 0 0 3
TRIO 0 1 2 0 0 3
TYR 1 2 0 0 0 3
VHL 1 1 1 0 0 3
VPS13B 2 0 0 1 0 3
ZEB1 0 3 0 0 0 3
ABCB11 1 0 1 0 0 2
ABCB4 1 1 0 0 0 2
ABCC2 0 1 1 0 0 2
ABCC9 0 1 1 0 0 2
ABCG8 0 2 0 0 0 2
ACADM 1 0 1 0 0 2
ACADS 0 0 2 0 0 2
ACAN 1 0 1 0 0 2
ACBD5, MASTL 0 0 1 1 0 2
ACTC1, GJD2-DT 0 0 2 0 0 2
ADAMTS13 1 0 1 0 0 2
ANO10 2 0 0 0 0 2
AP2S1 2 0 0 0 0 2
APC 1 0 1 0 0 2
AR 1 1 0 0 0 2
ARCN1 2 0 0 0 0 2
ARHGEF18 0 0 2 0 0 2
ARID1B 2 0 0 0 0 2
ASCC3 0 1 1 0 0 2
ASS1 2 0 0 0 0 2
ATAD3A 0 0 2 0 0 2
ATP8B1 2 0 0 0 0 2
ATRX 0 0 2 0 0 2
BCORL1 0 0 2 0 0 2
BMPR1A 0 1 1 0 0 2
BRPF1 1 1 0 0 0 2
BTD 2 0 0 0 0 2
CACNA1G 1 0 1 0 0 2
CATIP, PNKD 0 0 2 0 0 2
CDC73 0 0 1 1 0 2
CDH1 0 2 0 0 0 2
CDK13 1 1 0 0 0 2
CEBPA 1 1 0 0 0 2
CHD3 0 2 0 0 0 2
COL11A1 0 1 1 0 0 2
COL4A1 0 1 0 1 0 2
COL4A4 1 0 1 0 0 2
COL5A1 1 0 1 0 0 2
COL5A2 0 0 2 0 0 2
COL6A2 0 0 2 0 0 2
COL6A3 0 0 2 0 0 2
COL9A1 0 1 1 0 0 2
CPT1A 0 0 1 1 0 2
CRYBA1 1 1 0 0 0 2
CYB5R3 0 2 0 0 0 2
DDX3X 1 1 0 0 0 2
DEPDC5 2 0 0 0 0 2
DHCR7 2 0 0 0 0 2
DNAH1 0 0 2 0 0 2
DSP 1 0 1 0 0 2
DYNC1H1 0 0 2 0 0 2
DYNC2H1 0 2 0 0 0 2
ERCC2 0 2 0 0 0 2
EYA1 1 1 0 0 0 2
FANCI 0 0 2 0 0 2
FBN2 0 1 1 0 0 2
FGA 1 1 0 0 0 2
FH 1 1 0 0 0 2
FLNA 0 2 0 0 0 2
FLNA, LOC107988032 0 0 2 0 0 2
FOXJ1 0 0 1 1 0 2
FOXP1 1 1 0 0 0 2
G6PD 1 1 0 0 0 2
GAA 1 1 0 0 0 2
GALNS 1 1 0 0 0 2
GBA1, LOC106627981 2 0 0 0 0 2
GH-LCR, SCN4A 0 1 1 0 0 2
GJB2 2 0 0 0 0 2
GLDC 1 0 1 0 0 2
GLUD1 0 0 2 0 0 2
GP1BA, LOC130060044 0 0 2 0 0 2
GP1BB, SEPT5-GP1BB 0 1 1 0 0 2
GP9 1 0 1 0 0 2
GRIA3 0 0 2 0 0 2
GRIN1 0 1 1 0 0 2
GSN 1 0 1 0 0 2
GUCY2D 0 1 1 0 0 2
HBB, LOC107133510, LOC110006319 1 1 0 0 0 2
HERC2 0 0 2 0 0 2
HMGCL 1 1 0 0 0 2
HSALR1, PIEZO1 0 1 0 1 0 2
HUWE1 0 0 2 0 0 2
IFIH1 0 0 0 2 0 2
IGSF1 0 0 1 1 0 2
INSR 0 0 1 1 0 2
IRF6 0 1 1 0 0 2
KAT6A 2 0 0 0 0 2
KCNJ1 0 1 1 0 0 2
KIF1A 0 0 2 0 0 2
KMT2A 1 1 0 0 0 2
KRT12 0 0 2 0 0 2
LMNA 0 2 0 0 0 2
LMX1B 2 0 0 0 0 2
LOC126859807, TNFAIP3 0 0 1 1 0 2
LOC126861897, MHRT, MYH7 0 0 2 0 0 2
LOC126861898, MYH7 0 2 0 0 0 2
LPL 1 1 0 0 0 2
MAFA 0 0 2 0 0 2
MCCC1 0 1 1 0 0 2
MCCC2 0 1 1 0 0 2
MECP2 2 0 0 0 0 2
MED12L 0 1 1 0 0 2
MED13 1 0 1 0 0 2
MTOR 0 1 1 0 0 2
MYH3 1 0 1 0 0 2
NAA15 1 1 0 0 0 2
NOTCH1 0 0 2 0 0 2
NR2E3 0 2 0 0 0 2
NRXN1 1 0 1 0 0 2
NSD1 0 1 1 0 0 2
NTHL1 1 1 0 0 0 2
ODAD2 0 0 2 0 0 2
OPA1 0 1 1 0 0 2
PADI3 2 0 0 0 0 2
PARN 0 0 2 0 0 2
PDE6B 0 1 1 0 0 2
PHEX, PTCHD1 1 1 0 0 0 2
PI4KA 0 0 2 0 0 2
PIK3CD 0 0 1 1 0 2
PIKFYVE 2 0 0 0 0 2
PKLR 0 2 0 0 0 2
PKP2 2 0 0 0 0 2
POLE 0 0 1 1 0 2
PROC 0 2 0 0 0 2
PROM1 2 0 0 0 0 2
PTS 1 1 0 0 0 2
RAB23 1 1 0 0 0 2
RPGR 1 1 0 0 0 2
RUNX2 2 0 0 0 0 2
SAMD9 0 1 1 0 0 2
SBDS 2 0 0 0 0 2
SCN3A 0 0 2 0 0 2
SERPINA1 1 1 0 0 0 2
SGSH 0 2 0 0 0 2
SI 0 1 1 0 0 2
SLC12A3 2 0 0 0 0 2
SLC26A3 2 0 0 0 0 2
SLC26A4 2 0 0 0 0 2
SORD 1 0 1 0 0 2
SOS1 1 0 1 0 0 2
SPINK5 0 0 2 0 0 2
SRCAP 1 1 0 0 0 2
STXBP2 0 1 1 0 0 2
SVIL 0 0 2 0 0 2
SYNE1 0 2 0 0 0 2
TGM1 0 2 0 0 0 2
TMPRSS3 2 0 0 0 0 2
TNFAIP3 0 0 0 2 0 2
TNFRSF1A 1 0 0 0 1 2
TPI1 1 1 0 0 0 2
TPO 0 1 1 0 0 2
TRAF7 0 2 0 0 0 2
TRPM1 0 0 2 0 0 2
TRPS1 2 0 0 0 0 2
TUBB1 1 0 1 0 0 2
TUBB4A 2 0 0 0 0 2
UNC13D 0 0 2 0 0 2
USH1C 1 1 0 0 0 2
VPS13D 1 1 0 0 0 2
WDR81 0 1 1 0 0 2
WFS1 0 0 1 1 0 2
WT1 2 0 0 0 0 2
ZMYM2 2 0 0 0 0 2
​intergenic 1 0 0 0 0 1
ABCD1 0 0 1 0 0 1
ABCD4 0 0 1 0 0 1
ABCG5 0 0 1 0 0 1
ABCG5, DYNC2LI1 1 0 0 0 0 1
ABHD5 1 0 0 0 0 1
ABL1 0 1 0 0 0 1
ACAD9 1 0 0 0 0 1
ACADSB 0 1 0 0 0 1
ACADVL, DVL2 0 1 0 0 0 1
ACSF3, LOC125177393 1 0 0 0 0 1
ACTG2 0 1 0 0 0 1
ADA2 0 0 0 1 0 1
ADCY5 0 0 1 0 0 1
ADGRL1 0 0 1 0 0 1
AFF4 0 1 0 0 0 1
AFG3L2 0 0 1 0 0 1
AGO2 0 1 0 0 0 1
AGR2 0 1 0 0 0 1
AGRN 0 0 1 0 0 1
AHDC1 0 0 1 0 0 1
AHI1 0 1 0 0 0 1
AIPL1 1 0 0 0 0 1
AKT2 0 0 0 1 0 1
ALAS2, LOC108663984 0 0 1 0 0 1
ANK1 0 0 1 0 0 1
ANKRD1 0 0 1 0 0 1
ANKRD17 0 1 0 0 0 1
ANKRD26, LOC130003554 0 0 1 0 0 1
ANO5 1 0 0 0 0 1
ANTXR1 0 1 0 0 0 1
AP3B1 0 0 1 0 0 1
AP4S1 0 1 0 0 0 1
ARID1A 0 0 1 0 0 1
ARL6 0 0 1 0 0 1
ARMC5 1 0 0 0 0 1
ARMC5, LOC130058906 1 0 0 0 0 1
ARSL 0 1 0 0 0 1
ASAH1 0 1 0 0 0 1
ASPM 1 0 0 0 0 1
ATP1A3 1 0 0 0 0 1
ATP6AP2 0 1 0 0 0 1
AXDND1, NPHS2 0 1 0 0 0 1
B3GLCT 1 0 0 0 0 1
BBS1, ZDHHC24 0 1 0 0 0 1
BBS2 1 0 0 0 0 1
BCL11A 1 0 0 0 0 1
BEST1, FTH1 0 1 0 0 0 1
BLK 0 0 1 0 0 1
BMPR2 1 0 0 0 0 1
BRD4 0 0 1 0 0 1
C17orf107, CHRNE 1 0 0 0 0 1
C3 1 0 0 0 0 1
C6 0 0 1 0 0 1
CACNA1F, LOC126863257 0 0 1 0 0 1
CACNA1I 0 0 1 0 0 1
CACNA1S 0 0 1 0 0 1
CARD14 0 0 1 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CCDC103 0 0 1 0 0 1
CCDC39 0 0 1 0 0 1
CCNO, LOC129993895 0 0 1 0 0 1
CD19 0 0 1 0 0 1
CD36 1 0 0 0 0 1
CD46 0 0 1 0 0 1
CDCA7L, DNAH11 0 1 0 0 0 1
CDH2 0 0 1 0 0 1
CDKL5, RS1 1 0 0 0 0 1
CDKN2A 1 0 0 0 0 1
CDON 0 0 1 0 0 1
CEP290 1 0 0 0 0 1
CFH 0 0 1 0 0 1
CFHR5 0 0 1 0 0 1
CFTR, LOC111674472 0 1 0 0 0 1
CFTR, LOC111674477 0 0 1 0 0 1
CHAT 0 1 0 0 0 1
CHD1 0 0 1 0 0 1
CHD4 0 1 0 0 0 1
CHD7, LOC126860403 1 0 0 0 0 1
CHD8 1 0 0 0 0 1
CHRNE, LOC130060041 1 0 0 0 0 1
CIZ1 0 0 1 0 0 1
CIZ1, DNM1 0 1 0 0 0 1
CKAP2L 1 0 0 0 0 1
CLCN1 0 0 1 0 0 1
CLCN4 0 0 1 0 0 1
CLRN1 0 1 0 0 0 1
CLTC, LOC126862609 0 1 0 0 0 1
COL12A1 0 0 1 0 0 1
COL17A1 1 0 0 0 0 1
COL1A2 0 0 1 0 0 1
COL4A2 0 0 1 0 0 1
COL6A1 0 0 1 0 0 1
COPA 0 0 1 0 0 1
COQ8A 0 1 0 0 0 1
CPOX 0 0 1 0 0 1
CRELD1 0 0 1 0 0 1
CRX 0 1 0 0 0 1
CRYAA 1 0 0 0 0 1
CRYAB 0 0 1 0 0 1
CRYBA4, CRYBB1 0 0 1 0 0 1
CRYBB2 0 1 0 0 0 1
CSF1R 0 0 1 0 0 1
CSNK2A1 1 0 0 0 0 1
CTNNB1, LOC126806658 0 1 0 0 0 1
CUX2, SH2B3 0 0 0 1 0 1
CYP4V2 1 0 0 0 0 1
DCTN1 0 0 0 1 0 1
DDC 1 0 0 0 0 1
DDX41 1 0 0 0 0 1
DEAF1 1 0 0 0 0 1
DGAT1 0 1 0 0 0 1
DKC1 0 0 1 0 0 1
DLG4 0 1 0 0 0 1
DLL1 0 0 1 0 0 1
DMD 1 0 0 0 0 1
DMXL2 0 0 1 0 0 1
DNA2 0 0 1 0 0 1
DNAAF4, DNAAF4-CCPG1 0 0 1 0 0 1
DNAI2 0 0 0 1 0 1
DNAJB13 0 0 1 0 0 1
DNAJC21 0 0 1 0 0 1
DNAJC3 0 1 0 0 0 1
DNASE1, TRAP1 0 0 1 0 0 1
DNM1, LOC113839516 0 0 1 0 0 1
DOCK4 0 0 1 0 0 1
DOCK8 0 1 0 0 0 1
DPF2 0 0 1 0 0 1
DSG2 1 0 0 0 0 1
DTNBP1 0 1 0 0 0 1
ECEL1 1 0 0 0 0 1
EDA 1 0 0 0 0 1
EDN3 0 0 1 0 0 1
EHHADH 0 0 0 1 0 1
EHMT1 1 0 0 0 0 1
EIF2B4, GTF3C2 0 0 1 0 0 1
EIF2B5 1 0 0 0 0 1
ELF4 0 0 1 0 0 1
ENPEP, PITX2 1 0 0 0 0 1
EP300, LOC126863158 0 0 1 0 0 1
EPHB4, LOC126860124 0 1 0 0 0 1
EPM2A, EPM2A-DT, LOC129997381 1 0 0 0 0 1
ETV6 0 1 0 0 0 1
EXOSC3 0 0 1 0 0 1
EXOSC3, LOC130001814 0 0 1 0 0 1
EXPH5 1 0 0 0 0 1
EXT1 0 1 0 0 0 1
EXT2 1 0 0 0 0 1
EZH2 0 1 0 0 0 1
F5 0 1 0 0 0 1
FAM161A 1 0 0 0 0 1
FANCA 1 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 1
FANCG 0 0 1 0 0 1
FANCM 0 0 1 0 0 1
FAT4 0 0 0 1 0 1
FBN1, LOC113939944 1 0 0 0 0 1
FBXO11 0 0 1 0 0 1
FECH 1 0 0 0 0 1
FERMT3 0 0 1 0 0 1
FGB 0 0 1 0 0 1
FGFR1 0 0 1 0 0 1
FGFR2 1 0 0 0 0 1
FIG4 0 0 1 0 0 1
FKRP 0 1 0 0 0 1
FLNB 1 0 0 0 0 1
FMR1 0 0 1 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 1
FTL, LOC130064892 0 1 0 0 0 1
FZD4, PRSS23 0 0 1 0 0 1
G6PC1 1 0 0 0 0 1
GABRG2 1 0 0 0 0 1
GANAB 0 1 0 0 0 1
GAREM2, HADHA 1 0 0 0 0 1
GAS2L2 0 0 1 0 0 1
GATA1 0 0 1 0 0 1
GATA2 0 1 0 0 0 1
GBE1 0 1 0 0 0 1
GCDH 0 1 0 0 0 1
GCM2 0 0 1 0 0 1
GDAP1 1 0 0 0 0 1
GFAP 1 0 0 0 0 1
GJA3 1 0 0 0 0 1
GJB6 1 0 0 0 0 1
GLRA1 1 0 0 0 0 1
GNAO1 1 0 0 0 0 1
GNAS 0 1 0 0 0 1
GNE 0 1 0 0 0 1
GP1BA 0 1 0 0 0 1
GPC3 0 1 0 0 0 1
GRIA2 1 0 0 0 0 1
GRIA4 0 0 1 0 0 1
GRM1 0 0 1 0 0 1
GTPBP3 0 1 0 0 0 1
GUCY2C 0 0 0 1 0 1
HADHB 0 1 0 0 0 1
HAX1 0 0 1 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 1
HBA1, LOC106804613 1 0 0 0 0 1
HFE 1 0 0 0 0 1
HGSNAT 0 1 0 0 0 1
HIVEP2 0 0 1 0 0 1
HNF1B 1 0 0 0 0 1
HNF1B, LOC126862549 1 0 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HNRNPU 1 0 0 0 0 1
HOXB13 1 0 0 0 0 1
HPS1 1 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
HSF4 0 0 1 0 0 1
IDH3A 0 0 1 0 0 1
IGF1R, IRAIN 0 1 0 0 0 1
IKBKB 0 0 1 0 0 1
IMPG1 0 0 1 0 0 1
ITGB3 0 0 1 0 0 1
ITPR1 0 1 0 0 0 1
JAG2 0 0 1 0 0 1
JAGN1 0 0 0 0 1 1
JMJD8, STUB1 0 1 0 0 0 1
KAT6B 1 0 0 0 0 1
KCNA1 1 0 0 0 0 1
KCNA2 0 0 1 0 0 1
KCND3 0 0 1 0 0 1
KCNE1 0 0 1 0 0 1
KCNH2 1 0 0 0 0 1
KCNJ11 0 0 1 0 0 1
KCNT2 0 0 1 0 0 1
KCTD3 0 0 1 0 0 1
KDM5B 0 0 1 0 0 1
KDM6A 0 0 1 0 0 1
KDM6B 1 0 0 0 0 1
KIDINS220 0 0 1 0 0 1
KIF11 1 0 0 0 0 1
KIF22 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KLF1 0 1 0 0 0 1
KLHL7 1 0 0 0 0 1
KMT2E 0 0 1 0 0 1
LDB3 0 0 1 0 0 1
LEPR 0 0 1 0 0 1
LMBRD2 0 0 1 0 0 1
LMNB1 0 0 1 0 0 1
LMX1A 0 0 1 0 0 1
LOC100507346, PTCH1 0 0 0 1 0 1
LOC107982234, WT1 0 1 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 1
LOC121740638, TFAP2A 0 1 0 0 0 1
LOC126805612, PIK3CD 0 0 1 0 0 1
LOC126806104, TPO 0 1 0 0 0 1
LOC126806373, NEB 0 0 1 0 0 1
LOC126806430, TTN 0 0 1 0 0 1
LOC126859837, SYNE1 0 1 0 0 0 1
LOC126860802, ZMYND11 0 0 1 0 0 1
LOC126861615, PAH 1 0 0 0 0 1
LOC126862611, TLK2 1 0 0 0 0 1
LOC126863256, WDR45 1 0 0 0 0 1
LOC129930446, MMACHC 1 0 0 0 0 1
LOC129934069, SPR 0 0 1 0 0 1
LOC129992625, SRP72 0 0 1 0 0 1
LOC130004144, RPS24 0 0 1 0 0 1
LOC130004614, SUFU 1 0 0 0 0 1
LOC130009266, POLE 0 0 0 1 0 1
LOC130062628, TNFRSF11A 0 1 0 0 0 1
LOC130067574, TNFRSF13C 0 0 0 1 0 1
LPIN1 0 0 1 0 0 1
LPIN2 0 0 0 1 0 1
LRP5 0 0 1 0 0 1
LRRC56 0 0 1 0 0 1
LRRK2 1 0 0 0 0 1
LRSAM1 0 0 1 0 0 1
MACF1 0 0 1 0 0 1
MAGEL2 0 0 1 0 0 1
MAP2K2 0 1 0 0 0 1
MAPT 1 0 0 0 0 1
MAT1A 0 0 1 0 0 1
MATN3 1 0 0 0 0 1
MCIDAS 0 0 1 0 0 1
MED12 0 0 1 0 0 1
MED13L 0 0 1 0 0 1
MEFV 0 0 1 0 0 1
MERTK 0 0 1 0 0 1
MET 0 0 0 0 1 1
MFN2 1 0 0 0 0 1
MHRT, MYH7 0 0 1 0 0 1
MMACHC 0 1 0 0 0 1
MMADHC 1 0 0 0 0 1
MPL 0 0 1 0 0 1
MTSS2 0 1 0 0 0 1
MUSK 0 1 0 0 0 1
MVK 0 0 1 0 0 1
MYH2, MYHAS 0 1 0 0 0 1
MYL3 0 1 0 0 0 1
MYLK 0 0 1 0 0 1
MYO7A 1 0 0 0 0 1
MYRF 1 0 0 0 0 1
MYT1L 0 1 0 0 0 1
NAGA 0 1 0 0 0 1
NALCN 0 0 1 0 0 1
NBAS 0 1 0 0 0 1
NBEAL2 0 1 0 0 0 1
NCF2 0 0 1 0 0 1
NCKAP1 0 0 1 0 0 1
NCR1, NLRP7 1 0 0 0 0 1
NEB, RIF1 1 0 0 0 0 1
NEFL 1 0 0 0 0 1
NEXN 0 0 1 0 0 1
NFIX 1 0 0 0 0 1
NLRP3 0 1 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 1
NPHP4 0 0 1 0 0 1
NPHS2 0 1 0 0 0 1
NPRL2 0 0 1 0 0 1
NR5A1 0 1 0 0 0 1
NSDHL 1 0 0 0 0 1
OAS1 0 0 0 1 0 1
ODAD1 0 1 0 0 0 1
ODAD3 0 0 0 1 0 1
OPHN1 0 1 0 0 0 1
OPN1LW 1 0 0 0 0 1
OTC 0 1 0 0 0 1
PACS2 1 0 0 0 0 1
PARK7 1 0 0 0 0 1
PAX8 0 0 1 0 0 1
PBX1 1 0 0 0 0 1
PCARE 0 0 1 0 0 1
PDHA1 1 0 0 0 0 1
PGK1 0 0 1 0 0 1
PHYH 0 1 0 0 0 1
PIEZO1 0 0 0 1 0 1
PIEZO2 0 0 1 0 0 1
PIGB 1 0 0 0 0 1
PIK3CA 0 1 0 0 0 1
PINK1 1 0 0 0 0 1
PITPNM3 0 0 1 0 0 1
PLCB2 0 0 1 0 0 1
PLCG2 0 0 0 1 0 1
PLEKHG2 0 1 0 0 0 1
PMM2 1 0 0 0 0 1
PMP22 1 0 0 0 0 1
PNKP 0 1 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2 1 0 0 0 0 1
PNPLA4, PUDP, STS, VCX, VCX2, VCX3A 1 0 0 0 0 1
POLA1 0 0 1 0 0 1
POLD1 0 0 1 0 0 1
POLG, POLGARF 0 0 1 0 0 1
POLRMT 0 0 1 0 0 1
PPARG 0 0 1 0 0 1
PPOX 0 0 0 0 1 1
PRDM16 0 0 1 0 0 1
PRF1 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 1
PRKD1 0 0 1 0 0 1
PRPF31 0 0 1 0 0 1
PRPF8 0 0 1 0 0 1
PRPH2 1 0 0 0 0 1
PSEN1 0 1 0 0 0 1
PSTPIP1 0 0 0 1 0 1
PTCH1 1 0 0 0 0 1
PTCHD1 0 0 1 0 0 1
PTH1R 0 0 1 0 0 1
PUM1 1 0 0 0 0 1
PYGM 1 0 0 0 0 1
RAD21 0 1 0 0 0 1
RAF1 1 0 0 0 0 1
RAI1 0 0 0 1 0 1
RARS1 0 1 0 0 0 1
RASGRP2 0 0 1 0 0 1
RBM20 1 0 0 0 0 1
RERE 0 0 1 0 0 1
RHO 0 1 0 0 0 1
RIT1 1 0 0 0 0 1
RNASEH2B 0 1 0 0 0 1
RORA 0 0 1 0 0 1
RP2 1 0 0 0 0 1
RPL5 0 1 0 0 0 1
RSPH1 0 0 1 0 0 1
RSPH4A 0 0 1 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 1
SARDH 0 0 1 0 0 1
SCN2A 1 0 0 0 0 1
SCNN1A 0 0 1 0 0 1
SCNN1B 0 0 1 0 0 1
SDHC 0 0 1 0 0 1
SEMA5A 0 0 1 0 0 1
SERPINB7 1 0 0 0 0 1
SETD1B 0 0 0 1 0 1
SETD5 0 0 1 0 0 1
SETX 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
SHANK2 1 0 0 0 0 1
SHH 0 1 0 0 0 1
SHOX 0 0 1 0 0 1
SHROOM4 0 0 1 0 0 1
SLC20A2 0 1 0 0 0 1
SLC22A5 0 1 0 0 0 1
SLC25A20 1 0 0 0 0 1
SLC26A2 0 1 0 0 0 1
SLC4A11 0 0 1 0 0 1
SLC52A1 0 0 1 0 0 1
SLC52A3 0 0 1 0 0 1
SLC5A6 0 1 0 0 0 1
SLC6A8 1 0 0 0 0 1
SLC7A9 0 1 0 0 0 1
SLC9A7 0 0 1 0 0 1
SLFN14 0 0 1 0 0 1
SLX4 0 0 1 0 0 1
SMAD6 0 0 1 0 0 1
SMARCA2 0 0 1 0 0 1
SMARCAL1 0 1 0 0 0 1
SMARCB1 1 0 0 0 0 1
SMC1A 0 0 1 0 0 1
SNHG14, UBE3A 1 0 0 0 0 1
SOX11 0 0 1 0 0 1
SOX4 0 0 1 0 0 1
SOX9 1 0 0 0 0 1
SPATA7 1 0 0 0 0 1
SPG11 1 0 0 0 0 1
SRP54 1 0 0 0 0 1
STAG1 0 0 1 0 0 1
STAG2 0 0 1 0 0 1
STS 0 1 0 0 0 1
STUB1 0 1 0 0 0 1
STXBP1 1 0 0 0 0 1
SURF1 1 0 0 0 0 1
SYNE2 0 0 1 0 0 1
SYT2 0 1 0 0 0 1
TAF1 0 0 1 0 0 1
TARS2 0 1 0 0 0 1
TBK1 0 1 0 0 0 1
TBL1X 0 0 1 0 0 1
TBX22 0 0 1 0 0 1
TBX5 0 0 1 0 0 1
TCF20 1 0 0 0 0 1
TCF4 1 0 0 0 0 1
TCOF1 0 0 1 0 0 1
TFAP2A 1 0 0 0 0 1
TGFB2 0 0 1 0 0 1
THOC2 0 0 1 0 0 1
TINF2 0 0 1 0 0 1
TJP2 0 0 1 0 0 1
TMEM240 1 0 0 0 0 1
TMPRSS15 1 0 0 0 0 1
TNNC1 0 0 1 0 0 1
TNNT2 0 0 1 0 0 1
TP73 0 0 1 0 0 1
TRPV4 1 0 0 0 0 1
TRRAP 0 0 1 0 0 1
TSC1 0 0 1 0 0 1
TSPAN12 1 0 0 0 0 1
TTBK2 0 0 1 0 0 1
TTR 1 0 0 0 0 1
TUBB 1 0 0 0 0 1
TWIST1 0 1 0 0 0 1
UBIAD1 0 1 0 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 0 1
UIMC1 0 0 1 0 0 1
UROD 0 1 0 0 0 1
USP9X 0 0 1 0 0 1
VPS13A 0 1 0 0 0 1
VPS45 0 0 0 1 0 1
WAC 1 0 0 0 0 1
WDR26 1 0 0 0 0 1
WDR45 1 0 0 0 0 1
WDR72 0 1 0 0 0 1
WDR73 0 1 0 0 0 1
WIPF1 0 0 1 0 0 1
WNT10A 0 1 0 0 0 1
WNT10B 0 1 0 0 0 1
ZBTB20 0 1 0 0 0 1
ZFAT 0 0 1 0 0 1
ZFHX4 0 0 1 0 0 1
ZFYVE26 0 1 0 0 0 1
ZNF292 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 848
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cancer of breast 31 12 31 6 4 84
Breast-ovarian cancer, familial, susceptibility to, 2 19 5 15 7 6 52
Hereditary factor VIII deficiency disease 16 24 11 1 0 52
von Willebrand disease type 2 11 7 12 0 0 30
Breast-ovarian cancer, familial, susceptibility to, 1 19 2 2 1 5 29
Lynch syndrome 5 12 3 2 0 1 18
Axenfeld-Rieger syndrome type 3 13 1 3 0 0 17
Retinoblastoma 12 2 2 0 0 16
Lynch syndrome 1 10 2 2 1 0 15
Neurofibromatosis, type 1 10 2 2 0 0 14
Primary ciliary dyskinesia 7 0 3 9 2 0 14
Hypercholesterolemia, familial, 1 7 5 1 0 0 13
Neurofibromatosis, type 2 9 0 3 0 0 12
Maturity-onset diabetes of the young type 2 3 5 3 0 0 11
Primary ciliary dyskinesia 3 1 1 9 0 0 11
Hypertrophic cardiomyopathy 5 1 4 0 0 10
Hypertrophic cardiomyopathy 1 1 4 5 0 0 10
Lynch syndrome 5 5 0 0 0 10
Schwannomatosis 2 3 4 3 0 0 10
Thyroid dyshormonogenesis 6 3 4 3 0 0 10
Aniridia 1 9 0 0 0 0 9
Axenfeld-Rieger syndrome type 1 7 0 2 0 0 9
Beta-thalassemia HBB/LCRB 7 2 0 0 0 9
Noonan syndrome 1 9 0 0 0 0 9
Primary dilated cardiomyopathy 4 1 4 0 0 9
Cystic fibrosis 2 1 4 1 0 8
Hypertrophic cardiomyopathy 4 5 2 1 0 0 8
Marfan syndrome 2 3 3 0 0 8
Hereditary von Willebrand disease 1 0 6 0 0 7
Multiple endocrine neoplasia type 2A 0 0 2 0 5 7
Thrombocytopenia 2 0 2 2 2 1 7
Usher syndrome type 2A 5 1 1 0 0 7
Von Hippel-Lindau syndrome 3 2 2 0 0 7
Colorectal cancer, hereditary nonpolyposis, type 2 4 1 1 0 0 6
Cone-rod dystrophy 3 2 1 3 0 0 6
Glaucoma 1, open angle, A 2 0 4 0 0 6
Hereditary factor IX deficiency disease 2 4 0 0 0 6
KBG syndrome 2 2 1 1 0 6
Kabuki syndrome 1 3 0 3 0 0 6
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 3 2 1 0 0 6
Phenylketonuria 6 0 0 0 0 6
Retinal dystrophy 6 0 0 0 0 6
Retinitis pigmentosa 39 4 2 0 0 0 6
Telangiectasia, hereditary hemorrhagic, type 2 1 4 1 0 0 6
Tuberous sclerosis 2 4 1 1 0 0 6
Ataxia-telangiectasia syndrome 5 0 0 0 0 5
Autosomal dominant hypocalcemia 1 1 2 2 0 0 5
Bethlem myopathy 1A 0 0 5 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 3 1 0 3 1 0 5
CHARGE syndrome 4 1 0 0 0 5
Congenital factor VII deficiency 0 3 1 1 0 5
Ehlers-Danlos syndrome, type 4 1 0 4 0 0 5
Familial dysfibrinogenemia 2 2 1 0 0 5
Malignant hyperthermia, susceptibility to, 1 2 0 3 0 0 5
Multiple endocrine neoplasia, type 2 0 0 1 0 4 5
Nemaline myopathy 2 3 0 2 0 0 5
Primary ciliary dyskinesia 5 0 0 4 1 0 5
X-linked Alport syndrome 3 2 0 0 0 5
alpha Thalassemia 4 1 0 0 0 5
von Willebrand disease type 1 1 1 2 0 1 5
Autosomal recessive juvenile Parkinson disease 2 2 0 2 0 0 4
Bernard Soulier syndrome 1 1 2 0 0 4
Breast-ovarian cancer, familial, susceptibility to, 4 0 0 4 0 0 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 1 2 0 0 4
Charcot-Marie-Tooth disease type 4C 2 1 1 0 0 4
Congenital stationary night blindness 2A 0 1 3 0 0 4
Cornelia de Lange syndrome 1 2 1 1 0 0 4
Dilated cardiomyopathy 1G 0 3 1 0 0 4
Epithelial-stromal TGFBI dystrophy 2 2 0 0 0 4
Familial medullary thyroid carcinoma 2 0 2 0 0 4
Glycogen storage disease type III 3 0 1 0 0 4
Hereditary antithrombin deficiency 2 1 1 0 0 4
Hereditary factor XI deficiency disease 0 4 0 0 0 4
Hereditary retinoblastoma 3 1 0 0 0 4
Hypercholesterolemia, autosomal dominant, type B 1 0 2 0 1 4
Hypophosphatasia 3 1 0 0 0 4
Hypothyroidism due to TSH receptor mutations 2 0 1 1 0 4
Iodotyrosyl coupling defect 1 2 1 0 0 4
Lynch syndrome 4 0 1 1 1 1 4
Macular corneal dystrophy 3 1 0 0 0 4
Mucopolysaccharidosis, MPS-III-A 2 2 0 0 0 4
Polycystic kidney disease, adult type 1 1 2 0 0 4
Primary ciliary dyskinesia 0 0 4 0 0 4
Primary ciliary dyskinesia 15 1 2 1 0 0 4
RPE65-related recessive retinopathy 2 1 1 0 0 4
Retinitis pigmentosa 2 1 1 0 0 4
Retinitis pigmentosa 1 2 0 2 0 0 4
Severe early-childhood-onset retinal dystrophy 3 1 0 0 0 4
Usher syndrome type 2C 0 1 3 0 0 4
Very long chain acyl-CoA dehydrogenase deficiency 1 3 0 0 0 4
Acute myeloid leukemia 1 2 0 0 0 3
Alport syndrome 0 1 2 0 0 3
Anemia, congenital dyserythropoietic, type 1a 1 1 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 17 2 1 0 0 0 3
Birt-Hogg-Dube syndrome 3 0 0 0 0 3
Brugada syndrome 3 0 0 3 0 0 3
Central core myopathy 1 1 1 0 0 3
Charcot-Marie-Tooth disease X-linked dominant 1 3 0 0 0 0 3
Ciliary dyskinesia, primary, 40 0 1 2 0 0 3
Classic homocystinuria 2 0 1 0 0 3
Colorectal cancer, susceptibility to, 12 0 0 1 2 0 3
Combined immunodeficiency due to LRBA deficiency 0 0 2 1 0 3
Congenital secretory diarrhea, chloride type 2 0 0 1 0 3
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 3 0 0 0 0 3
Dyskeratosis congenita, autosomal dominant 2 0 2 1 0 0 3
Ectopia lentis 2, isolated, autosomal recessive 2 1 0 0 0 3
Familial Mediterranean fever 1 0 2 0 0 3
Familial adenomatous polyposis 2 2 0 1 0 0 3
Familial cold autoinflammatory syndrome 2 0 1 1 1 0 3
Familial hypocalciuric hypercalcemia 1 1 1 1 0 0 3
Familial meningioma 1 2 0 0 0 3
Familial thoracic aortic aneurysm and aortic dissection 0 1 2 0 0 3
Hereditary pheochromocytoma-paraganglioma 2 1 0 0 0 3
Hereditary spastic paraplegia 4 1 1 1 0 0 3
Hereditary spastic paraplegia 7 2 0 1 0 0 3
Hermansky-Pudlak syndrome 6 0 0 3 0 0 3
Hyperinsulinemic hypoglycemia, familial, 1 2 0 1 0 0 3
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 1 1 0 0 3
Immunodeficiency 14 0 0 2 1 0 3
Immunodeficiency 62 0 0 3 0 0 3
Immunodeficiency, common variable, 12 0 2 1 0 0 3
Intellectual disability, autosomal dominant 16 1 1 1 0 0 3
Intellectual disability, autosomal dominant 6 1 2 0 0 0 3
Interstitial lung disease due to ABCA3 deficiency 0 0 2 1 0 3
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome