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Links from MedGen

Items: 1 to 100 of 212

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THRB
(I322T +1 more)
Single nucleotide variant
(missense variant +1 more)
Thyroid hormone resistance, generalized, autosomal dominant
GPathogenic
THRB
(P396L +2 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely pathogenic
THRB
(P396N +2 more)
Indel
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely pathogenic
THRB
(P395S +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
THRB
(P395T +2 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(intron variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(intron variant)
Thyroid hormone resistance, generalized, autosomal dominant
+1 more
GLikely benign
LOC126806630, THRB
(E186K +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
LOC126806630, THRB
Single nucleotide variant
(synonymous variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
(E217G +1 more)
Single nucleotide variant
(missense variant)
Selective pituitary resistance to thyroid hormone
+1 more
GUncertain significance
THRB
Single nucleotide variant
(synonymous variant +1 more)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely benign
THRB
Single nucleotide variant
(synonymous variant +1 more)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
THRB
Single nucleotide variant
(synonymous variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely benign
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GBenign
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely benign
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GBenign
THRB, THRB-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB, THRB-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB, THRB-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely benign
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GBenign
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(5 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
(N4S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
THRB
(R23Q)
Single nucleotide variant
(missense variant +1 more)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely benign
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GBenign
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GBenign
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
(S341R +2 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
THRB
(I28V +1 more)
Single nucleotide variant
(missense variant)
Selective pituitary resistance to thyroid hormone
+4 more
GBenign/Likely benign
THRB
(R429Q +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
+2 more
GPathogenic
THRB
Indel
(nonsense)
Thyroid hormone resistance, generalized, autosomal dominant
GPathogenic
THRB
Single nucleotide variant
(3 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
(E460K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
THRB
(L454fs +1 more)
Duplication
(frameshift variant)
THRB-related disorder
GPathogenic
THRB
(P453A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
THRB
(L450F +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GPathogenic
THRB
(R438fs +1 more)
Deletion
(frameshift variant)
Thyroid hormone resistance, generalized, autosomal dominant
GPathogenic
THRB
(R438C +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
THRB
(I431M +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
(G345C +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely pathogenic
THRB
(G344E +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GPathogenic
THRB
(T327N +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GPathogenic
THRB
(S314F +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GPathogenic
THRB
(M313T +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
THRB
(M310V +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GPathogenic
THRB
(G307D +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
(A268G +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
+2 more
GLikely pathogenic
THRB, LOC126806630
(R243G +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
LOC126806630, THRB
(A234P +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
LOC126806630, THRB
Duplication
(inframe_insertion)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
LOC126806630, THRB
(L246P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
THRB
(P453S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
THRB
(N343K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THRB
(H435Q +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance syndrome
+1 more
GPathogenic
THRB
(L341V +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely pathogenic
THRB
(E326G +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely pathogenic
THRB
(F451V +1 more)
Single nucleotide variant
(missense variant)
Thyroid hormone resistance, generalized, autosomal dominant
GLikely pathogenic
THRB-AS1, THRB
Single nucleotide variant
(5 prime UTR variant +1 more)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB, THRB-AS1
Single nucleotide variant
(intron variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(5 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
THRB
Single nucleotide variant
(5 prime UTR variant)
Thyroid hormone resistance, generalized, autosomal dominant
GUncertain significance
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