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Items: 1 to 100 of 1359

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(Y165C +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+3 more
GPathogenic/Likely pathogenic
MSH2
(S205fs)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(Q4*)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome 5
+7 more
GPathogenic/Likely pathogenic
MSH6
(Q4H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MSH6
(T6P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MSH6
(L7M)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MSH6
(S9G)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
MSH6
(S9N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MSH6
(P12S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MSH6
(P12T)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH6
(P12L)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
MSH6
(K13Q)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+4 more
GUncertain significance
MSH6
(K13R)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MSH6
(K13T)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 5
+6 more
GUncertain significance
MSH6
(S14A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MSH6
(S14F)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+6 more
GConflicting classifications of pathogenicity
MSH6
(P15S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MSH6
(A20fs)
Duplication
(frameshift variant +1 more)
Lynch syndrome 5
+3 more
GPathogenic/Likely pathogenic
MSH6
(A23T)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+5 more
GUncertain significance
MSH6
(S24L)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
MSH6
(R26G)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MSH6
(A13P +1 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Endometrial carcinoma
GUncertain significance
MSH6
(R33P)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+6 more
GConflicting classifications of pathogenicity
MSH6
(A35V)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH6
(P38L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MSH6
(G46fs +1 more)
Deletion
(frameshift variant +3 more)
Endometrial carcinoma
+1 more
GPathogenic/Likely pathogenic
MSH6
(G46R)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+5 more
GConflicting classifications of pathogenicity
MSH6
(A48T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Endometrial carcinoma
+2 more
GUncertain significance
MSH6
(S51R)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+4 more
GConflicting classifications of pathogenicity
MSH6
(E52K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MSH6
(E52*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
MSH6
(A53D)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+3 more
GUncertain significance
MSH6
Duplication
(inframe_insertion +1 more)
not provided
+5 more
GUncertain significance
MSH6
Duplication
(inframe_insertion +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MSH6
(P57R)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+3 more
GConflicting classifications of pathogenicity
MSH6
(P59S)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+4 more
GConflicting classifications of pathogenicity
MSH6
(R62fs)
Microsatellite
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
MSH6
(R62C)
Single nucleotide variant
(missense variant +1 more)
Mismatch repair cancer syndrome 1
+5 more
GUncertain significance
MSH6
(R62L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MSH6
(S63P)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+6 more
GConflicting classifications of pathogenicity
MSH6
(S63C)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
MSH6
(S63Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
MSH6
(K68R)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MSH6
(K70E)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GConflicting classifications of pathogenicity
MSH6
(L72F)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+2 more
GUncertain significance
MSH6
(G74*)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome 5
+4 more
GPathogenic
MSH6
(G75E)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+2 more
GUncertain significance
MSH6
(L76V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MSH6
(R77W)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+5 more
GConflicting classifications of pathogenicity
MSH6
(R78G)
Single nucleotide variant
(missense variant +1 more)
Endometrial carcinoma
+4 more
GUncertain significance
MSH6
(A81G)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MSH6
(A81V)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+4 more
GConflicting classifications of pathogenicity
LOC129933707, MSH6
(A83D)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+4 more
GUncertain significance
LOC129933707, MSH6
(T86del)
Microsatellite
(inframe_deletion +2 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
LOC129933707, MSH6
(T86I)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
LOC129933707, MSH6
(S87T)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+3 more
GConflicting classifications of pathogenicity
MSH6
Single nucleotide variant
(5 prime UTR variant +1 more)
Endometrial carcinoma
GUncertain significance
MSH6
(C88Y)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MSH6
(V96F)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MSH6
(E101D)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+1 more
GUncertain significance
MSH6
(V142L +4 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MSH6
(V110I)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MSH6
(Y111C)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
MSH6
(H14fs +4 more)
Duplication
(frameshift variant +3 more)
Endometrial carcinoma
+1 more
GPathogenic/Likely pathogenic
MSH6
(I120fs)
Duplication
(frameshift variant +2 more)
Endometrial carcinoma
+4 more
GPathogenic/Likely pathogenic
MSH6
(I120S)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+2 more
GUncertain significance
MSH6
(I120T)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH6
(R121C)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
MSH6
(R121H)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+7 more
GConflicting classifications of pathogenicity
MSH6
(E122* +4 more)
Single nucleotide variant
(nonsense +3 more)
Endometrial carcinoma
GLikely pathogenic
MSH6
(K125E)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
MSH6
(V127I)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+2 more
GUncertain significance
MSH6
(R128L)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
MSH6
(F133fs)
Deletion
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
MSH6
(Q132R)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MSH6
(D110A +4 more)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+1 more
GUncertain significance
MSH6
(R140M)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+3 more
GUncertain significance
MSH6
(W142*)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome
GPathogenic
MSH6
(S144G)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
MSH6
(K145N)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+5 more
GConflicting classifications of pathogenicity
MSH6
(L148fs)
Deletion
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
MSH6
(P150S)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MSH6
(S156*)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome
GPathogenic
MSH6
(A159V)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+4 more
GConflicting classifications of pathogenicity
MSH6
(Q104K +5 more)
Single nucleotide variant
(intron variant +3 more)
Endometrial carcinoma
GUncertain significance
MSH6
(E171K)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
MSH6
(R178C)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+7 more
GConflicting classifications of pathogenicity
MSH6
(R178H)
Single nucleotide variant
(missense variant +2 more)
not specified
+6 more
GConflicting classifications of pathogenicity
MSH6
(A182V)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MSH6
(N184fs)
Microsatellite
(frameshift variant +2 more)
Lynch syndrome 5
+4 more
GPathogenic/Likely pathogenic
MSH6
(N184K)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+1 more
GUncertain significance
MSH6
(K133E +6 more)
Single nucleotide variant
(missense variant +3 more)
Endometrial carcinoma
GUncertain significance
MSH6
(K189M)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MSH6
(L193fs)
Deletion
(frameshift variant +2 more)
Hereditary nonpolyposis colon cancer
+5 more
GPathogenic/Likely pathogenic
MSH6
(D197H)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+5 more
GConflicting classifications of pathogenicity
MSH6
(D197G)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+1 more
GUncertain significance
MSH6
(S200*)
Single nucleotide variant
(nonsense +2 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic
MSH6
(E205K)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+2 more
GUncertain significance
MSH6
(E107K +6 more)
Single nucleotide variant
(missense variant +3 more)
Endometrial carcinoma
+1 more
GUncertain significance
MSH6
(E207D)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
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