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: rs587779856
rs587779856
ATM ; C11orf65
1.000 0.200 11 108321421 splice donor variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2005 2015
dbSNP: rs587781353
rs587781353
ATM ; C11orf65
1.000 0.200 11 108345889 missense variant TG/AA mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1996 1998
dbSNP: rs587781698
rs587781698
ATM ; C11orf65
1.000 0.200 11 108365335 stop gained C/G;T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2000
dbSNP: rs587782558
rs587782558
ATM ; C11orf65
1.000 0.200 11 108345750 frameshift variant AAA/-;AA;AAAA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2000 2000
dbSNP: rs786204726
rs786204726
ATM ; C11orf65
1.000 0.200 11 108365105 frameshift variant ACTG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2003 2017
dbSNP: rs876658831
rs876658831
ATM ; C11orf65
11 108310168 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2000 2015
dbSNP: rs876658959
rs876658959
ATM ; C11orf65
1.000 0.200 11 108354841 stop gained -/AACT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1996 1997
dbSNP: rs876659235
rs876659235
ATM ; C11orf65
11 108365340 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2006 2007
dbSNP: rs876660022
rs876660022
ATM ; C11orf65
1.000 0.200 11 108365336 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1996 1998
dbSNP: rs1060501650
rs1060501650
ATM ; C11orf65
1.000 0.200 11 108365111 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2000 2000
dbSNP: rs1131691149
rs1131691149
ATM ; C11orf65
1.000 0.200 11 108365110 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2000 2000
dbSNP: rs1131691254
rs1131691254
ATM ; C11orf65
11 108310176 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs1555119834
rs1555119834
ATM ; C11orf65
0.882 0.280 11 108326116 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1999 1999
dbSNP: rs587781584
rs587781584
ATM ; C11orf65
1.000 0.200 11 108315912 splice donor variant G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs587781963
rs587781963
ATM ; C11orf65
11 108310255 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2009 2009
dbSNP: rs587782198
rs587782198
ATM ; C11orf65
1.000 0.200 11 108310306 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1998 1998
dbSNP: rs730881385
rs730881385
ATM ; C11orf65
11 108335104 missense variant G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs786202120
rs786202120
ATM ; C11orf65
11 108335942 frameshift variant ACTA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2012 2012
dbSNP: rs786202318
rs786202318
ATM ; C11orf65
1.000 0.200 11 108343255 frameshift variant TGGTGCACAGGAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2017 2017
dbSNP: rs786202323
rs786202323
ATM ; C11orf65
11 108320040 frameshift variant AA/-;AAA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2006 2006
dbSNP: rs786203272
rs786203272
ATM ; C11orf65
11 108345797 frameshift variant -/AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1998 1998
dbSNP: rs786203421
rs786203421
ATM ; C11orf65
1.000 0.200 11 108327665 frameshift variant TACA/- delins 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs794728018
rs794728018
ATM ; C11orf65
11 108353826 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2007 2007
dbSNP: rs876659872
rs876659872
ATM ; C11orf65
1.000 0.200 11 108343240 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2008 2008
dbSNP: rs876660041
rs876660041
ATM ; C11orf65
1.000 0.200 11 108331554 splice donor variant TGTAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2000 2000