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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806630, THRB
(L246P +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
+1 more
GUncertain significance
LOC126806630, THRB
(K244N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806630, THRB
(R243Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
THRB, LOC126806630
(R243W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
LOC126806630, THRB
(A234V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126806630, THRB
(A234T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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