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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RET
(V804M +35 more)
Single nucleotide variant
(missense variant)
Medullary thyroid carcinoma
GPathogenic
MEN1
(V124fs)
Deletion
(frameshift variant)
Calcium nephrolithiasis
+6 more
GPathogenic
RET
Deletion
(inframe_indel +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
RET
Deletion
(inframe_indel +1 more)
Multiple endocrine neoplasia, type 2
GUncertain significance
RET
Deletion
(inframe_indel +1 more)
Medullary thyroid carcinoma
GLikely pathogenic
KRAS
(Q61L)
Single nucleotide variant
(missense variant)
Non-small cell lung carcinoma
GPathogenic
RET
(A883F +17 more)
Indel
(missense variant)
Multiple endocrine neoplasia, type 2
+2 more
GPathogenic/Likely pathogenic
RET
(V804L +17 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
RET
(R632W +16 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RET
(E564K +16 more)
Single nucleotide variant
(missense variant)
Pheochromocytoma
+6 more
GConflicting classifications of pathogenicity
RET
(K412E +13 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+7 more
GPathogenic/Likely pathogenic
RET
(D631G +14 more)
Single nucleotide variant
(missense variant)
Medullary thyroid carcinoma
GLikely pathogenic
RET
(C376R +13 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
GPathogenic
RET
(C364Y +11 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
RET
(E257K +11 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
+6 more
GConflicting classifications of pathogenicity
RET
(G67R +2 more)
Single nucleotide variant
(missense variant)
Medullary thyroid carcinoma
+7 more
GConflicting classifications of pathogenicity
RET
(S891A +17 more)
Single nucleotide variant
(missense variant)
not provided
+10 more
GPathogenic
RET
(Y791F +17 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GBenign/Likely benign
RET
(C609Y +12 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
RET
(E768D +17 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
RET
(C618R +12 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
RET
(M918T +17 more)
Single nucleotide variant
(missense variant)
Medullary thyroid carcinoma
+17 more
GPathogenic/Likely pathogenic
RET
(C634W +14 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
RET
(C634R +14 more)
Single nucleotide variant
(missense variant)
Hirschsprung disease, susceptibility to, 1
+5 more
GPathogenic/Likely pathogenic
RET
(C620Y +12 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia, type 2
+2 more
GPathogenic
RET
(C634Y +14 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
RET
(C634R +44 more)
Single nucleotide variant
(missense variant)
Multiple endocrine neoplasia type 2A
GPathogenic
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