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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZFAT
(R338Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune thyroid disease, susceptibility to, 3
GUncertain significance
TG
(C2130W)
Single nucleotide variant
(missense variant)
Autoimmune thyroid disease, susceptibility to, 3
GUncertain significance
ZFAT
(S1120L +3 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune thyroid disease, susceptibility to, 3
GUncertain significance
TG
(R2044L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(W1050L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TG
(D2001N)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+3 more
GUncertain significance
TG
(R152H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+3 more
GConflicting classifications of pathogenicity
TG
(V129I)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
Single nucleotide variant
(synonymous variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
(Q331H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(T309A)
Single nucleotide variant
(missense variant)
Autoimmune thyroid disease, susceptibility to, 3
+1 more
GUncertain significance
TG
(R283Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TG, SLA
(R2455C)
Single nucleotide variant
(missense variant +1 more)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(D1014H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+1 more
GUncertain significance
TG
(S1222L)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GBenign/Likely benign
TG
Single nucleotide variant
(splice acceptor variant)
Autoimmune thyroid disease, susceptibility to, 3
GLikely pathogenic
TG
(G77S)
Single nucleotide variant
(missense variant)
TG-related disorder
+4 more
GConflicting classifications of pathogenicity
TG
(R1661H)
Single nucleotide variant
(missense variant)
Iodotyrosyl coupling defect
+2 more
GUncertain significance
TG
(P1494L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TG
Single nucleotide variant
(intron variant)
Iodotyrosyl coupling defect
+2 more
GConflicting classifications of pathogenicity
TG
(R854W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TG
Single nucleotide variant
Autoimmune thyroid disease, susceptibility to, 3
Grisk factor
TG
(R2336Q)
Single nucleotide variant
(missense variant)
Autoimmune thyroid disease, susceptibility to, 3
+2 more
GLikely pathogenic
TG
(R2242H)
Single nucleotide variant
(missense variant)
Autoimmune thyroid disease, susceptibility to, 3
+2 more
GPathogenic
TG
(M1028V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TG
(S734A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TG
(R1999W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
TG
(R296*)
Single nucleotide variant
(nonsense)
Autoimmune thyroid disease, susceptibility to, 3
+3 more
GPathogenic
TG
(R1530*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
ZFAT
Single nucleotide variant
(intron variant)
Autoimmune thyroid disease, susceptibility to, 3
Grisk factor
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