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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH6
(A23P)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GConflicting classifications of pathogenicity
MSH6
(S156*)
Single nucleotide variant
(nonsense +2 more)
Lynch syndrome
GPathogenic
MSH6
(K854del +2 more)
Microsatellite
(inframe_deletion)
Endometrial carcinoma
+4 more
GUncertain significance
MSH6
(E1310K +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
MSH6
(G1316R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MSH6
Insertion
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FBXO11, MSH6
(D826G +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
+1 more
GPathogenic/Likely pathogenic
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