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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
(I93T)
Single nucleotide variant
(missense variant +1 more)
Hypophosphatemic rickets
+1 more
GUncertain significance
MEN1
(V124fs)
Deletion
(frameshift variant)
Multiple endocrine neoplasia, type 1
+6 more
GPathogenic
CASR
(V817I +1 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GLikely pathogenic
MEN1
Deletion
(splice donor variant +1 more)
Parathyroid gland adenoma
+5 more
GPathogenic
CDC73
(R229fs)
Microsatellite
(frameshift variant)
Parathyroid carcinoma
+1 more
GPathogenic
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