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Items: 3

  • The following term was not found in ClinVar: Henckelia.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MLH1
(T37fs +3 more)
Deletion
(intron variant +1 more)
not provided
+1 more
GPathogenic
MLH1
(S556T +5 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
TGFBR1
(S241L +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GPathogenic/Likely pathogenic
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