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)

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
403	100	408	17	397	1325

Gene and significance breakdown #

Total genes and gene combinations: 75

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BRCA2	178	22	22	0	35	257
BRCA1	83	5	14	0	26	128
ATM	11	11	36	3	9	70
APC	12	5	22	0	11	50
ATM, C11orf65	17	7	20	0	0	44
FANCA	6	5	0	0	32	43
MSH6	12	5	15	2	7	41
PMS2	4	1	19	3	13	40
MLH1	13	7	8	1	6	35
CHEK2	5	7	20	1	1	34
PALB2	9	3	18	0	2	32
BLM	5	0	14	3	8	30
RAD50	6	0	17	1	4	28
BRIP1	3	2	15	0	7	27
MSH2	4	0	17	0	5	26
RET	0	1	13	0	12	26
BARD1	1	1	13	0	9	24
NF1	1	0	13	0	8	22
NBN	2	1	8	0	10	21
BRCA1, LOC126862571	14	0	1	0	4	19
ATR	0	0	0	0	17	17
CDH1	0	0	13	0	4	17
MRE11	0	0	13	0	4	17
MUTYH	3	3	9	0	2	17
RAD51B	0	1	8	0	6	15
RAD51D, RAD51L3-RFFL	0	0	13	0	2	15
TP53	2	4	4	0	5	15
FANCM	0	0	0	0	13	13
GEN1	0	0	0	0	13	13
MEN1	0	1	8	0	4	13
STK11	0	1	3	0	7	11
AXIN2	0	0	0	0	9	9
MSH3	0	0	0	0	9	9
BMPR1A	0	0	4	0	4	8
DHFR, MSH3	0	0	0	0	8	8
RAD51C	1	1	3	1	2	8
RNF43	0	0	0	0	8	8
SMARCA4	0	0	0	0	8	8
ABRAXAS1	1	0	2	1	3	7
CDKN2A	4	1	2	0	0	7
FANCL	0	0	0	0	7	7
POLD1	0	0	0	0	6	6
POLE	0	0	0	0	6	6
EPCAM	0	0	3	0	2	5
FANCA, ZNF276	0	1	0	0	4	5
PTEN	0	1	2	0	2	5
VHL	1	0	1	0	3	5
PPP2R2A	0	0	0	0	4	4
RAD50, TH2LCRR	1	0	2	0	1	4
RPS20	0	0	0	0	4	4
BARD1, LOC129935544	0	0	0	0	3	3
CDK4	0	0	1	0	2	3
CDK4, TSPAN31	0	0	3	0	0	3
GALNT12	0	0	0	0	3	3
XRCC2	0	1	2	0	0	3
BRCA2, LOC106721785	0	0	0	0	2	2
EPCAM, MSH2	2	0	0	0	0	2
FANCA, LOC112486223	0	1	0	0	1	2
FANCA, LOC130059837	1	1	0	0	0	2
GREM1	0	0	0	0	2	2
LOC107303340, VHL	0	0	1	1	0	2
LOC129390903, RAD51C	0	0	2	0	0	2
ATM, LOC130006700	0	0	0	0	1	1
BMPR1A, LOC130004245	0	0	0	0	1	1
BRCA1, LOC111589215	0	0	0	0	1	1
CHEK1	0	0	1	0	0	1
DCTN5, PALB2	1	0	0	0	0	1
FANCA, LOC132090450	0	0	0	0	1	1
FBXO11, MSH6	0	0	0	0	1	1
LOC106736614, RET	0	0	1	0	0	1
LOC129933707, MSH6	0	0	0	0	1	1
LOC130009266, POLE	0	0	0	0	1	1
MITF	0	0	0	0	1	1
RAD50, TH2-LCR, TH2LCRR	0	0	1	0	0	1
SMAD4	0	0	1	0	0	1

Condition and significance breakdown #

Total conditions: 14

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Hereditary cancer-predisposing syndrome	97	43	407	17	247	811
Hereditary breast ovarian cancer syndrome	126	18	0	0	12	156
not provided	80	18	0	0	0	98
not specified	10	1	0	0	56	67
Familial cancer of breast	50	3	1	0	0	54
Fanconi anemia complementation group A	7	8	0	0	38	53
Lynch syndrome	20	7	0	0	24	51
Fanconi anemia	0	0	0	0	13	13
Fanconi anemia complementation group L	0	0	0	0	7	7
Breast-ovarian cancer, familial, susceptibility to, 1	5	0	0	0	0	5
Melanoma-pancreatic cancer syndrome	4	1	0	0	0	5
Ovarian cancer	4	0	0	0	0	4
Hereditary nonpolyposis colon cancer	1	0	0	0	0	1
Multiple endocrine neoplasia, type 1	0	1	0	0	0	1

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