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: rs149201802
rs149201802
RAD50
1.000 0.200 5 132594950 stop gained C/G;T snv 8.0E-05; 5.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2008 2016
dbSNP: rs876658770
rs876658770
RAD50 ; TH2LCRR
5 132640768 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2000 2015
dbSNP: rs876659654
rs876659654
RAD50 ; TH2LCRR
5 132642212 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2007 2014
dbSNP: rs1060501933
rs1060501933
RAD50 ; TH2LCRR
5 132642195 stop gained C/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2000 2015
dbSNP: rs1236278956
rs1236278956
RAD50
5 132579861 splice acceptor variant G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2006 2014
dbSNP: rs1554098706
rs1554098706
RAD50
5 132595758 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2014 2016
dbSNP: rs1060501949
rs1060501949
RAD50
5 132609340 frameshift variant AAAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs149201802
rs149201802
RAD50
1.000 0.200 5 132594950 stop gained C/G;T snv 8.0E-05; 5.6E-05
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 1.000 2 2008 2015
dbSNP: rs151131414
rs151131414
RAD50 ; TH2LCRR
5 132638080 splice acceptor variant G/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs1554098466
rs1554098466
RAD50
5 132591875 splice acceptor variant A/G snv
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: rs397507178
rs397507178
RAD50
1.000 0.200 5 132595760 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2015 2016
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: rs587781742
rs587781742
RAD50
1.000 0.120 5 132594868 splice acceptor variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs761168506
rs761168506
RAD50 ; TH2LCRR
5 132637202 splice donor variant T/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
dbSNP: rs762648843
rs762648843
RAD50
5 132618295 splice donor variant G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2009
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: 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: 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: 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: 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