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Links from MedGen

Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTF1
Single nucleotide variant
(splice donor variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
(G69S)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GLikely pathogenic
LOC126806316, PAX8
+1 more
(R224C)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
(G397R)
Single nucleotide variant
(missense variant +2 more)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
LOC126806316, PAX8
+1 more
(P252A)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
+1 more
GUncertain significance
PAX8, PAX8-AS1
(K80fs)
Duplication
(frameshift variant)
Hypothyroidism, congenital, nongoitrous, 2
GLikely pathogenic
PAX8
Single nucleotide variant
(intron variant)
Hypothyroidism, congenital, nongoitrous, 2
+1 more
GBenign
PAX8, PAX8-AS1
Single nucleotide variant
(intron variant)
Hypothyroidism, congenital, nongoitrous, 2
+1 more
GBenign
LOC126806316, PAX8
+1 more
(Q259H)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(intron variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
(L153fs)
Deletion
(frameshift variant)
Hypothyroidism, congenital, nongoitrous, 2
GPathogenic
PAX8, PAX8-AS1
(S79F)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GLikely pathogenic
LOC126806316, PAX8
+1 more
(S201N)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
LOC126806316, PAX8
+1 more
(E234K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PAX8, PAX8-AS1
(D273N)
Single nucleotide variant
(missense variant +1 more)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
+1 more
GConflicting classifications of pathogenicity
PAX8
(S337A)
Single nucleotide variant
(missense variant +2 more)
Hypothyroidism, congenital, nongoitrous, 2
+2 more
GConflicting classifications of pathogenicity
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
LOC108281110, PAX8
Single nucleotide variant
(intron variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
LOC108281110, PAX8
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX8, PAX8-AS1
Single nucleotide variant
(synonymous variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
Single nucleotide variant
(intron variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
(D94N)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
Single nucleotide variant
(synonymous variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
(V116I)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
+1 more
GConflicting classifications of pathogenicity
PAX8, PAX8-AS1
Single nucleotide variant
(synonymous variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
(T68I)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GLikely pathogenic
PAX8
(P272A +3 more)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
+1 more
GUncertain significance
PAX8, PAX8-AS1
(R72Q)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GLikely benign
LOC126806316, PAX8
+1 more
(E237Q)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GLikely benign
PAX8
(N343S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypothyroidism, congenital, nongoitrous, 2
GConflicting classifications of pathogenicity
PAX8
(P277S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypothyroidism, congenital, nongoitrous, 2
GLikely benign
PAX8
(G384S)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PAX8
(P301L)
Single nucleotide variant
(intron variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126806316, PAX8
+1 more
(P235L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PAX8
(P269L +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PAX8, PAX8-AS1
(K135R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PAX8
(A388V +2 more)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PAX8
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX8
(A278V +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
PAX8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PAX8, PAX8-AS1
(S54C)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GLikely pathogenic
PAX8
(P2L)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX8-AS1, PAX8
Single nucleotide variant
(synonymous variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806316, PAX8
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX8, PAX8-AS1
Single nucleotide variant
(synonymous variant +1 more)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8, PAX8-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX8, PAX8-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
(Q354E)
Single nucleotide variant
(missense variant +2 more)
Hypothyroidism, congenital, nongoitrous, 2
+1 more
GUncertain significance
PAX8
(W292* +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX8
(P306R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX8
(S423G)
Single nucleotide variant
(missense variant +1 more)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(synonymous variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GLikely benign
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GBenign
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GBenign
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GBenign
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GBenign
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GBenign
PAX8
Single nucleotide variant
(3 prime UTR variant)
Hypothyroidism, congenital, nongoitrous, 2
GUncertain significance
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