Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359636
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 1.000 6 2005 2013
dbSNP: rs11571658
rs11571658
BRCA2
0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs80359601
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0004096
Disease: Asthma
Asthma 		0.700 0
dbSNP: rs80359636
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 6 2005 2013
dbSNP: rs81002885
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs397507802
rs397507802
BRCA2
0.925 0.080 13 32326555 frameshift variant -/A delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs80359604
rs80359604
BRCA2
0.763 0.320 13 32329468 frameshift variant GT/- delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs1555284566
rs1555284566
BRCA2
13 32340503 frameshift variant -/T delins
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1555287661
rs1555287661
BRCA2
13 32370534 frameshift variant TTCAAAGA/- delins
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1555288169
rs1555288169
BRCA2
13 32376747 frameshift variant -/T delins
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs879255309
rs879255309
BRCA2
0.925 0.200 13 32338238 stop gained C/T snv
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1555283031
rs1555283031
BRCA2
0.925 0.080 13 32337423 frameshift variant ACAT/- del
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs397507990
rs397507990
BRCA2
0.925 0.080 13 32370999 frameshift variant AA/-;AAA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs80359011
rs80359011
BRCA2
0.882 0.200 13 32362574 stop gained G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs80359598
rs80359598
BRCA2
0.882 0.200 13 32340837 frameshift variant ACAA/- delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs80359770
rs80359770
BRCA2
0.851 0.200 13 32332429 frameshift variant A/-;AA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs1555283322
rs1555283322
BRCA2
0.882 0.200 13 32337987 frameshift variant A/-;AA delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs397507419
rs397507419
BRCA2
0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs431825362
rs431825362
BRCA2
0.925 0.080 13 32363187 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs45580035
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs587781629
rs587781629
BRCA2
0.851 0.200 13 32333388 splice donor variant G/A snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs587781803
rs587781803
BRCA2
0.851 0.200 13 32341169 frameshift variant AAGAG/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0