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: rs876658212
rs876658212
IL5 ; RAD50
5 132557325 start lost A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2015 2015
dbSNP: rs377260382
rs377260382
IL5 ; RAD50
5 132557327 start lost G/A snv 4.8E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2015
dbSNP: rs1554096644
rs1554096644
IL5 ; RAD50
5 132557395 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587781625
rs587781625
IL5 ; RAD50
5 132557417 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs1339714611
rs1339714611
IL5 ; RAD50
5 132557454 splice donor variant G/T snv 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs748086984
rs748086984
IL5 ; RAD50
5 132557455 splice donor variant T/A snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs1561628206
rs1561628206
RAD50
5 132559282 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs876658784
rs876658784
RAD50
5 132559283 splice acceptor variant G/A;T snv 4.1E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs876659837
rs876659837
RAD50
5 132559308 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554096791
rs1554096791
RAD50
1.000 0.200 5 132559336 frameshift variant C/- delins
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 0
dbSNP: rs765484171
rs765484171
RAD50
5 132559368 splice donor variant G/T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs1561634357
rs1561634357
RAD50
5 132575845 frameshift variant A/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587780155
rs587780155
RAD50
5 132575886 frameshift variant CAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs587781721
rs587781721
RAD50
5 132575916 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554097755
rs1554097755
RAD50
5 132579315 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554097758
rs1554097758
RAD50
5 132579328 frameshift variant GTCAG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1458900761
rs1458900761
RAD50
5 132579343 frameshift variant -/T;TT delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587781355
rs587781355
RAD50
5 132579347 frameshift variant TG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2014 2014
dbSNP: rs786203485
rs786203485
RAD50
5 132579363 stop gained C/A;T snv 4.0E-06; 1.2E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2014 2015
dbSNP: rs1561635887
rs1561635887
RAD50
1.000 0.200 5 132579402 frameshift variant -/TA delins
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 0
dbSNP: rs1561635887
rs1561635887
RAD50
1.000 0.200 5 132579402 frameshift variant -/TA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1064792948
rs1064792948
RAD50
5 132579425 frameshift variant TCAAGAAGAT/AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs786201531
rs786201531
RAD50
5 132579487 frameshift variant T/-;TT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs876659255
rs876659255
RAD50
5 132579492 frameshift variant TC/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501970
rs1060501970
RAD50
5 132579860 splice acceptor variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0