Variants from GeneKor MSA

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	risk factor	total
247	49	408	17	56	1	778

Gene and significance breakdown #

Total genes and gene combinations: 47

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
BRCA2	88	6	22	0	28	0	144
BRCA1	83	5	14	0	23	0	125
ATM	1	4	36	3	0	0	44
CHEK2	5	7	20	1	0	0	33
PALB2	10	3	18	0	0	0	31
APC	3	1	22	0	0	1	27
PMS2	4	1	19	3	0	0	27
ATM, C11orf65	5	0	20	0	0	0	25
RAD50	6	0	17	1	0	0	24
MSH6	5	1	15	2	0	0	23
BRIP1	3	2	15	0	0	0	20
MSH2	3	0	17	0	0	0	20
BLM	1	0	14	3	0	0	18
BRCA1, LOC126862571	14	0	1	0	2	0	17
BARD1	1	1	13	0	0	0	15
MUTYH	3	3	9	0	0	0	15
MLH1	1	4	8	1	0	0	14
NF1	1	0	13	0	0	0	14
RET	0	1	13	0	0	0	14
CDH1	0	0	13	0	0	0	13
MRE11	0	0	13	0	0	0	13
RAD51D, RAD51L3-RFFL	0	0	13	0	0	0	13
NBN	2	1	8	0	0	0	11
TP53	2	4	4	0	0	0	10
RAD51B	0	1	8	0	0	0	9
MEN1	0	0	8	0	0	0	8
RAD51C	1	1	3	1	0	0	6
ABRAXAS1	1	0	2	1	0	0	4
BMPR1A	0	0	4	0	0	0	4
STK11	0	1	3	0	0	0	4
CDK4, TSPAN31	0	0	3	0	0	0	3
EPCAM	0	0	3	0	0	0	3
PTEN	0	1	2	0	0	0	3
RAD50, TH2LCRR	1	0	2	0	0	0	3
XRCC2	0	1	2	0	0	0	3
BRCA2, LOC106721785	0	0	0	0	2	0	2
CDKN2A	0	0	2	0	0	0	2
EPCAM, MSH2	2	0	0	0	0	0	2
LOC107303340, VHL	0	0	1	1	0	0	2
LOC129390903, RAD51C	0	0	2	0	0	0	2
VHL	1	0	1	0	0	0	2
BRCA1, LOC111589215	0	0	0	0	1	0	1
CDK4	0	0	1	0	0	0	1
CHEK1	0	0	1	0	0	0	1
LOC106736614, RET	0	0	1	0	0	0	1
RAD50, TH2-LCR, TH2LCRR	0	0	1	0	0	0	1
SMAD4	0	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
Hereditary cancer-predisposing syndrome	63	25	407	17	0	1	513
not provided	85	18	0	0	0	0	103
not specified	10	1	0	0	56	0	67
Familial cancer of breast	57	3	1	0	0	0	61
Hereditary breast ovarian cancer syndrome	22	2	0	0	0	0	24
Breast-ovarian cancer, familial, susceptibility to, 1	5	0	0	0	0	0	5
Ovarian cancer	4	0	0	0	0	0	4
Hereditary nonpolyposis colon cancer	1	0	0	0	0	0	1

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