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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RET
(E238* +2 more)
Single nucleotide variant
(nonsense)
Hirschsprung disease, susceptibility to, 1
GPathogenic
RET
(R287L +3 more)
Single nucleotide variant
(missense variant)
Aganglionic megacolon
GLikely pathogenic
RET
(W228* +3 more)
Single nucleotide variant
(nonsense +1 more)
RET-related disorder
GPathogenic
RET
(K412N +13 more)
Single nucleotide variant
(missense variant)
Familial medullary thyroid carcinoma
+8 more
GPathogenic/Likely pathogenic
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