ClinVar Miner

Variants from Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University

Location: China  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
0 231 0 0 370 601

Gene and significance breakdown #

Total genes and gene combinations: 113
Download table as spreadsheet
Gene or gene combination likely pathogenic benign total
BRCA2 12 14 26
RECQL4 12 14 26
APC 7 14 21
TSC2 11 6 17
ALK 5 10 15
AR 8 7 15
MSH6 3 11 14
RET 4 10 14
WRN 4 9 13
DICER1 4 8 12
FLCN 4 8 12
BLM 3 8 11
BRCA1 7 4 11
PDGFRA 5 6 11
PTCH1 4 7 11
EGFR 4 6 10
MLH3 4 6 10
PMS2 4 6 10
TSHR 6 4 10
ATM, C11orf65 3 6 9
AXIN2 3 6 9
BARD1 4 5 9
BIVM-ERCC5, ERCC5 5 4 9
EXT1 2 6 8
FANCA 2 6 8
FANCG 2 6 8
KIT 2 6 8
MSR1 5 3 8
PMS1 2 6 8
TSC1 1 7 8
ATM 0 7 7
ERCC3 1 6 7
EXT2 4 3 7
MET 2 5 7
MSH2 3 4 7
PALB2 2 5 7
CDH1 3 3 6
ELAC2 2 4 6
ERCC4 2 4 6
FANCD2, LOC107303338 4 2 6
RB1 3 3 6
AOPEP, FANCC 4 1 5
BRIP1 5 0 5
FANCE 2 3 5
FH 5 0 5
MLH1 0 5 5
MRE11 1 4 5
NF1 0 5 5
RAD50 1 4 5
RNASEL 2 3 5
XPC 3 2 5
BUB1B 1 3 4
CDKN1B 2 2 4
ERCC2 3 1 4
HMMR 2 2 4
NBN 2 2 4
RAD51C 3 1 4
TRIM24 1 3 4
FANCD2, FANCD2OS 1 2 3
FANCF 1 2 3
LOC107982234, WT1 1 2 3
MXI1 2 1 3
NTRK1 3 0 3
RAD50, TH2LCRR 1 2 3
SDHAF2 1 2 3
SDHB 0 3 3
STK11 0 3 3
TRIM33 0 3 3
CDKN2A 1 1 2
CYLD 0 2 2
FANCA, ZNF276 1 1 2
FANCE, LOC129996245 0 2 2
HNF1A 1 1 2
HNF1B 1 1 2
KIF1B 1 1 2
KLC1, XRCC3 0 2 2
LOC110011216, PHOX2B 0 2 2
LOC129390903, RAD51C 1 1 2
RAD50, TH2-LCR, TH2LCRR 2 0 2
SLC49A4 0 2 2
TMEM127 2 0 2
VHL 0 2 2
XPA 1 1 2
AR, LOC109504725 0 1 1
BIVM-ERCC5, ERCC5, LOC126861834 0 1 1
BMPR1A 1 0 1
BRCA1, LOC126862571 1 0 1
BUB1B, BUB1B-PAK6 0 1 1
C12orf43, HNF1A 0 1 1
CDC73 0 1 1
CDK4, TSPAN31 0 1 1
DDB2, LOC126861205 0 1 1
EPCAM 0 1 1
ERCC4, LOC130058543 1 0 1
GPC3 0 1 1
HRAS, LRRC56 0 1 1
LOC100507346, PTCH1 0 1 1
LOC129931243, TRIM33 0 1 1
LOC129937389, SLC49A4 0 1 1
LOC129999452, TRIM24 0 1 1
MEN1 0 1 1
MUTYH 0 1 1
NQO2 0 1 1
PHB1 0 1 1
PHOX2B 0 1 1
PKD1, TSC2 0 1 1
PPM1D 1 0 1
PTEN 0 1 1
RAD51 0 1 1
SDHC 0 1 1
SMARCB1 1 0 1
WT1 0 1 1
XRCC3 0 1 1

Condition and significance breakdown #

Total conditions: 1
Download table as spreadsheet
Condition likely pathogenic benign total
Ovarian cancer 231 370 601

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