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Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DUOX2
Single nucleotide variant
(splice acceptor variant)
Congenital hypothyroidism
GLikely pathogenic
LOC126806316, PAX8
+1 more
(R220*)
Single nucleotide variant
(nonsense)
Congenital hypothyroidism
GPathogenic
TPO
Duplication
(splice donor variant +1 more)
Congenital hypothyroidism
GLikely pathogenic
PAX8-AS1, PAX8
(R133W)
Single nucleotide variant
(missense variant)
Congenital hypothyroidism
GPathogenic
PAX8-AS1, PAX8
(I34N)
Single nucleotide variant
(missense variant)
Congenital hypothyroidism
GPathogenic
TPO
(F289S)
Single nucleotide variant
(missense variant +1 more)
Congenital hypothyroidism
GPathogenic
SLC26A4
(T67P)
Single nucleotide variant
(missense variant)
Congenital hypothyroidism
GBenign
TG
(V1151fs)
Deletion
(frameshift variant)
Congenital hypothyroidism
GLikely pathogenic
TG
(L746fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TG
(C1728R)
Single nucleotide variant
(missense variant)
Congenital hypothyroidism
GPathogenic
TG
(G2620D)
Single nucleotide variant
(missense variant)
Congenital hypothyroidism
GLikely benign
TG
(A217fs)
Duplication
(frameshift variant)
Congenital hypothyroidism
GPathogenic
TG
(A712fs)
Duplication
(frameshift variant)
Congenital hypothyroidism
GLikely pathogenic
TG
(A2234D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
DUOX2
(G200R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SLC26A7
(Q199* +1 more)
Single nucleotide variant
(nonsense)
Congenital hypothyroidism
GLikely pathogenic
TG
(D1767del)
Deletion
(inframe_deletion)
not provided
GBenign
TG
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
DUOX2
(C1052Y)
Single nucleotide variant
(missense variant)
Thyroid dyshormonogenesis 6
+2 more
GConflicting classifications of pathogenicity
TUBB1
(C12fs)
Deletion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TUBB1
(Y106*)
Single nucleotide variant
(nonsense)
Congenital hypothyroidism
GPathogenic
TUBB1
(P160L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DUOX2
Deletion
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPO
(H520Y +1 more)
Single nucleotide variant
(missense variant)
Deficiency of iodide peroxidase
+7 more
GLikely pathogenic
DUOXA2
(L155V)
Single nucleotide variant
(missense variant)
DUOXA2-related disorder
+3 more
GConflicting classifications of pathogenicity
TG
(I1790M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
IYD
Deletion
(3 prime UTR variant +1 more)
Congenital hypothyroidism
GUncertain significance
IYD
Duplication
(3 prime UTR variant +1 more)
Congenital hypothyroidism
GUncertain significance
IYD
Insertion
(3 prime UTR variant +1 more)
Congenital hypothyroidism
GBenign
IYD
Deletion
(3 prime UTR variant +1 more)
Congenital hypothyroidism
GUncertain significance
IYD
Microsatellite
(3 prime UTR variant +1 more)
Congenital hypothyroidism
GUncertain significance
IYD
Indel
(3 prime UTR variant +1 more)
Congenital hypothyroidism
GUncertain significance
IYD
Deletion
(3 prime UTR variant +1 more)
Congenital hypothyroidism
GLikely benign
IYD
Deletion
(3 prime UTR variant +1 more)
Congenital hypothyroidism
GUncertain significance
IYD
Single nucleotide variant
Congenital hypothyroidism
GUncertain significance
TPO
Duplication
(3 prime UTR variant)
Congenital hypothyroidism
+1 more
GUncertain significance
TPO
Deletion
(intron variant)
Congenital hypothyroidism
+1 more
GBenign/Likely benign
TPO
Single nucleotide variant
(synonymous variant)
Congenital hypothyroidism
+1 more
GConflicting classifications of pathogenicity
PAX8
Duplication
(3 prime UTR variant)
Congenital hypothyroidism
GUncertain significance
DUOX2
(G105E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DUOX2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DUOX2
Single nucleotide variant
(intron variant)
Congenital hypothyroidism
GUncertain significance
TSHR
Single nucleotide variant
(3 prime UTR variant)
Congenital hypothyroidism
+1 more
GUncertain significance
TSHR
Duplication
(3 prime UTR variant)
Congenital hypothyroidism
+1 more
GLikely benign
TSHR
Deletion
(3 prime UTR variant)
Congenital hypothyroidism
+1 more
GUncertain significance
DUOX2
(Q202fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
DUOXA2
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TSHB
(T14A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
TSHR
(R450H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
DUOX2
(F966fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
TG
Single nucleotide variant
(splice donor variant)
Congenital hypothyroidism
+1 more
GPathogenic
TG
(R296*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
TG
(R1530*)
Single nucleotide variant
(nonsense)
Iodotyrosyl coupling defect
+2 more
GPathogenic
SLC5A5
(G395R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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