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: rs760146707
rs760146707
RAD50
1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2003 2015
dbSNP: rs760146707
rs760146707
RAD50
1.000 0.200 5 132579997 frameshift variant T/- del 4.1E-04
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 1.000 4 2003 2015
dbSNP: rs587782895
rs587782895
RAD50
1.000 0.200 5 132604020 frameshift variant AA/- del 5.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs587782895
rs587782895
RAD50
1.000 0.200 5 132604020 frameshift variant AA/- del 5.6E-05
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 1.000 1 2016 2016
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: rs587780154
rs587780154
RAD50
5 132609340 frameshift variant GAAA/- delins 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs778555849
rs778555849
RAD50 ; TH2LCRR
5 132638158 stop gained C/T snv 2.4E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2017 2017
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: rs121912628
rs121912628
RAD50
1.000 0.200 5 132618182 stop gained C/G;T snv 1.6E-05 2.8E-05
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 1.000 4 2009 2017
dbSNP: rs121912628
rs121912628
RAD50
1.000 0.200 5 132618182 stop gained C/G;T snv 1.6E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2009 2009
dbSNP: rs766315644
rs766315644
RAD50
5 132587637 stop gained C/A;T snv 4.4E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs772468452
rs772468452
RAD50
1.000 0.200 5 132595719 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs772468452
rs772468452
RAD50
1.000 0.200 5 132595719 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 0
dbSNP: rs761837416
rs761837416
RAD50 ; TH2LCRR
5 132638197 stop gained C/T snv 1.2E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs764968413
rs764968413
RAD50
5 132591390 frameshift variant -/AG delins 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs142947311
rs142947311
RAD50
5 132595617 stop gained C/T snv 4.0E-06 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587781930
rs587781930
RAD50
5 132608683 frameshift variant TCAA/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs745797941
rs745797941
RAD50 ; TH2LCRR
5 132637179 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587781904
rs587781904
RAD50
5 132595033 stop gained C/A snv 2.0E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs377429225
rs377429225
RAD50
5 132579986 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs765975825
rs765975825
RAD50
5 132603355 stop gained C/T snv 3.6E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs764122619
rs764122619
RAD50
5 132580068 splice donor variant T/C snv 4.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs1253904315
rs1253904315
RAD50
5 132591404 stop gained A/G;T snv 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs1247689593
rs1247689593
RAD50
1.000 0.200 5 132588728 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016