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: rs1054003194
rs1054003194
MSH6 ; FBXO11
2 47800892 frameshift variant GGG/-;GG;GGGG delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1057517551
rs1057517551
MSH6 ; FBXO11
1.000 0.160 2 47798890 frameshift variant -/T delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1057517763
rs1057517763
MSH6 ; FBXO11
2 47804920 stop gained T/A snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1057517801
rs1057517801
PMS2
7 5987022 frameshift variant T/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1057524433
rs1057524433
PMS2
7 5982858 stop gained G/A snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500687
rs1060500687
MLH1
3 37047639 frameshift variant AA/A;AAA;G delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500688
rs1060500688
MLH1
3 37001014 frameshift variant G/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500689
rs1060500689
MLH1
3 37007000 stop gained C/G;T snv 4.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500692
rs1060500692
MLH1
3 37025668 frameshift variant GAGATGG/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500703
rs1060500703
MLH1
3 37025639 frameshift variant T/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500706
rs1060500706
MLH1
3 37050517 frameshift variant G/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060500707
rs1060500707
MLH1
3 37025644 stop gained -/A delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060501989
rs1060501989
MSH2
2 47410115 stop gained C/T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060501993
rs1060501993
MSH2
2 47403404 splice donor variant T/C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060501994
rs1060501994
MSH2
2 47429776 stop gained G/A;C;T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502000
rs1060502000
MSH2
2 47403278 frameshift variant GCCG/- del
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502001
rs1060502001
MSH2
2 47403276 stop gained A/T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502023
rs1060502023
MSH2
2 47463156 splice donor variant T/C snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502027
rs1060502027
MSH2
2 47463048 frameshift variant C/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502029
rs1060502029
MSH2
2 47463114 frameshift variant GAAG/AAA delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502032
rs1060502032
MSH2
2 47476522 stop gained G/T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502035
rs1060502035
MSH2
2 47445574 frameshift variant -/T;TT delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502875
rs1060502875
MSH6 ; FBXO11
2 47791106 frameshift variant TT/-;TTT delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502881
rs1060502881
MSH6 ; FBXO11
2 47805636 frameshift variant GAATT/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0
dbSNP: rs1060502882
rs1060502882
MSH6 ; FBXO11
2 47801132 frameshift variant C/- del
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 0