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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RET
(R1050* +17 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GLikely pathogenic
RET
(P222T +8 more)
Single nucleotide variant
(missense variant)
Appendicitis
GUncertain significance
RET
(R163W +1 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+2 more
GUncertain significance
RET
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GConflicting classifications of pathogenicity
RET
(N523S +16 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+2 more
GUncertain significance
RET
(S395L +13 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+8 more
GConflicting classifications of pathogenicity
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