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: 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
dbSNP: rs1060501954
rs1060501954
RAD50
5 132589637 frameshift variant TT/- 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
dbSNP: rs1060501973
rs1060501973
RAD50
5 132604850 stop gained C/T snv
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: rs121912629
rs121912629
RAD50 ; TH2LCRR
1.000 0.200 5 132642364 stop lost A/T snv 4.0E-06 7.0E-06
CUI: C2751318
Disease: Nijmegen Breakage Syndrome-Like Disorder
Nijmegen Breakage Syndrome-Like Disorder 		0.700 0
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: rs1281337925
rs1281337925
RAD50
5 132604813 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1297931573
rs1297931573
RAD50
5 132608629 frameshift variant G/- delins 4.5E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1388500583
rs1388500583
RAD50
5 132595689 stop gained G/C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1423570602
rs1423570602
RAD50 ; TH2LCRR
5 132638128 frameshift variant TTCTGATAAAAGGC/- delins 7.0E-06
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: rs1446519890
rs1446519890
RAD50
5 132608730 splice region variant G/C;T snv
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: rs1554096644
rs1554096644
IL5 ; RAD50
5 132557395 frameshift variant T/- delins
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: 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: rs1554097816
rs1554097816
RAD50
5 132579958 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554097840
rs1554097840
RAD50
5 132580066 splice donor variant GGT/TG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554098156
rs1554098156
RAD50
5 132587561 splice acceptor variant G/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554098191
rs1554098191
RAD50
5 132587920 splice acceptor variant ACAGGTTTT/CAAATAAA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0