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Links from MedGen

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH6
(Q1280fs +2 more)
Duplication
(frameshift variant)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic/Likely pathogenic
MSH6
(T593R +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GUncertain significance
MSH6
Duplication
(inframe_insertion)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MSH6
(K563fs +2 more)
Deletion
(frameshift variant)
Lynch syndrome 5
+4 more
GPathogenic
MSH6
(D197H)
Single nucleotide variant
(missense variant +2 more)
Mismatch repair cancer syndrome 3
+4 more
GConflicting classifications of pathogenicity
MSH6
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
MSH6
(D1084G +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MSH6
(L1114Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MSH6
(G74*)
Single nucleotide variant
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic
MSH6
(R1005L +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MSH6
(T914I +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
MSH6
(R121H)
Single nucleotide variant
(missense variant +2 more)
Endometrial carcinoma
+6 more
GConflicting classifications of pathogenicity
MSH6
(T1247A +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MSH6
(H1203N +2 more)
Single nucleotide variant
(missense variant)
Mismatch repair cancer syndrome 3
+5 more
GConflicting classifications of pathogenicity
MSH6
(E1196Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH6
(Y850* +2 more)
Single nucleotide variant
(nonsense)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GPathogenic
MSH6
(I513T +2 more)
Single nucleotide variant
(missense variant)
Mismatch repair cancer syndrome 3
+5 more
GUncertain significance
MSH6
Deletion
(inframe_deletion)
Mismatch repair cancer syndrome 3
+3 more
GUncertain significance
MSH6
Single nucleotide variant
(intron variant)
Endometrial carcinoma
+6 more
GBenign/Likely benign
MSH6
(R1024W +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
MSH6
(F321fs +2 more)
Deletion
(frameshift variant)
Endometrial carcinoma
+4 more
GPathogenic/Likely pathogenic
MSH6
(L700I +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+5 more
GUncertain significance
MSH6
(V890F +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+6 more
GConflicting classifications of pathogenicity
MSH6
(H1248Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
MSH6
(S1343* +2 more)
Single nucleotide variant
(nonsense)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GUncertain significance
MSH6
(K1358E +2 more)
Single nucleotide variant
(missense variant)
Endometrial carcinoma
+3 more
GUncertain significance
MSH6
Single nucleotide variant
(synonymous variant)
Mismatch repair cancer syndrome 3
+4 more
GLikely benign
MSH6
(Q4*)
Single nucleotide variant
(nonsense +1 more)
MSH6-related condition
+8 more
GPathogenic/Likely pathogenic
MSH6
Microsatellite
(splice donor variant)
Mismatch repair cancer syndrome 3
+8 more
GBenign/Likely benign
MSH6
(Y397C +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+8 more
GConflicting classifications of pathogenicity
MSH6
(E277D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
MSH6
(K885* +2 more)
Single nucleotide variant
(nonsense)
Hereditary nonpolyposis colorectal neoplasms
+4 more
GPathogenic
MSH6
Duplication
(frameshift variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+7 more
GUncertain significance
MSH6
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GBenign/Likely benign
MSH6
(T269S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
MSH6
(E220D +1 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GLikely benign
MSH6
(Y214* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MSH6
Microsatellite
(splice donor variant)
Lynch syndrome
GLikely benign
MSH6
Duplication
(nonsense)
Lynch syndrome
GPathogenic
MSH6
Duplication
(intron variant)
Lynch syndrome
GBenign
MSH6
Single nucleotide variant
(splice acceptor variant)
Lynch syndrome
GLikely pathogenic
MSH6
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MSH6
Deletion
(inframe_indel)
Mismatch repair cancer syndrome 3
GPathogenic
MSH6
(F1088fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(F958fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(R1035* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(W1007* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(R911* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(V415fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(S702* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(S580L +2 more)
Single nucleotide variant
(missense variant)
Mismatch repair cancer syndrome 3
+6 more
GConflicting classifications of pathogenicity
MSH6
(S201C +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
MSH6
(R1331* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
Single nucleotide variant
(intron variant)
Lynch syndrome
GBenign
MSH6
(V509A +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GLikely benign
MSH6
Single nucleotide variant
(synonymous variant +1 more)
Lynch syndrome
GBenign
MSH6
Single nucleotide variant
(synonymous variant +2 more)
Lynch syndrome
GBenign
MSH6
(K88* +1 more)
Duplication
(nonsense +1 more)
Lynch syndrome
GPathogenic
MSH6
(V878A +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome
GBenign
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