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: 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: rs786202259
rs786202259
RAD50 ; TH2LCRR
5 132642204 frameshift variant G/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2010 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: 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: 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: rs876659005
rs876659005
RAD50
1.000 0.200 5 132579868 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs876660957
rs876660957
RAD50
5 132588685 splice acceptor variant A/C snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs995265408
rs995265408
RAD50 ; TH2LCRR
5 132638215 splice donor variant ACAAAAGGCAGG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs104895046
rs104895046
RAD50
5 132588749 stop gained C/T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2010 2010
dbSNP: rs1060501941
rs1060501941
RAD50
1.000 0.200 5 132609388 frameshift variant CACA/- delins
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 1.000 1 2016 2016
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: 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
dbSNP: rs1247689593
rs1247689593
RAD50
1.000 0.200 5 132588728 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 1.000 1 2016 2016
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: 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: rs587782543
rs587782543
RAD50
5 132591957 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2014 2014
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: 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: 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: rs786201897
rs786201897
RAD50
5 132604038 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2017 2017
dbSNP: rs1060501923
rs1060501923
RAD50
5 132618271 frameshift variant TATT/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501936
rs1060501936
RAD50
5 132603989 stop gained C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501941
rs1060501941
RAD50
1.000 0.200 5 132609388 frameshift variant CACA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501942
rs1060501942
RAD50
5 132609296 frameshift variant CTTAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0