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Links from MedGen

Items: 1 to 100 of 105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKX2-1, SFTA3
(G141fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(A36fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(V113fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(P131fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(L186fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(A272fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(G112fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(Q172L +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(R178* +1 more)
Single nucleotide variant
(nonsense)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(I207M +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(H212D +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(Q204L +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(Y116* +1 more)
Single nucleotide variant
(nonsense)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(V205A +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(S187* +1 more)
Single nucleotide variant
(nonsense)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(R213P +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(C244* +1 more)
Single nucleotide variant
(nonsense)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
Brain-lung-thyroid syndrome
GUncertain significance
NKX2-1, SFTA3
(H319fs +1 more)
Duplication
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(R165fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(P317fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(P155fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(S336fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(R42fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
Indel
(inframe_indel)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(Y116* +1 more)
Single nucleotide variant
(nonsense)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(A303fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(T359fs +1 more)
Duplication
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(E126fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
SFTA3, NKX2-1
(P321fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NKX2-1, SFTA3
(G267D +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GUncertain significance
NKX2-1, SFTA3
(F158fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
NKX2-1, SFTA3
(Q54* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NKX2-1, SFTA3
(R179P +1 more)
Single nucleotide variant
(missense variant)
Hereditary ataxia
+2 more
GPathogenic/Likely pathogenic
NKX2-1, SFTA3
(Y174* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(M197fs +1 more)
Duplication
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(Y116fs +1 more)
Duplication
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(R213C +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
+1 more
GPathogenic/Likely pathogenic
NKX2-1, SFTA3
(G322S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
(R165W +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(P202L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
NKX2-1, SFTA3
(A63fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
Benign hereditary chorea
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
SFTA3, NKX2-1
(A274D +1 more)
Single nucleotide variant
(missense variant)
Benign hereditary chorea
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
Benign hereditary chorea
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Benign hereditary chorea
+1 more
GBenign
NKX2-1, SFTA3
(Y144* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
NKX2-1, SFTA3
(G85fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NKX2-1, NKX2-1-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Brain-lung-thyroid syndrome
GLikely benign
NKX2-1, SFTA3
(H60fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
NKX2-1, SFTA3
(W238* +1 more)
Single nucleotide variant
(nonsense)
Brain-lung-thyroid syndrome
+1 more
GPathogenic/Likely pathogenic
SFTA3, NKX2-1
(Q291K +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GUncertain significance
NKX2-1, SFTA3
(L34I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
NKX2-1, SFTA3
Microsatellite
(inframe_insertion)
Brain-lung-thyroid syndrome
+2 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
(P261R +1 more)
Single nucleotide variant
(missense variant)
Benign hereditary chorea
+1 more
GLikely pathogenic
NKX2-1, SFTA3
(S383del +1 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
NKX2-1, SFTA3
(V83fs +1 more)
Deletion
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, SFTA3
(Q313fs +1 more)
Duplication
(frameshift variant)
Brain-lung-thyroid syndrome
GLikely pathogenic
NKX2-1, NKX2-1-AS1
+1 more
Deletion
Benign hereditary chorea
+1 more
GPathogenic
NKX2-1, SFTA3
(T233M +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
GUncertain significance
NKX2-1, SFTA3
(Y215* +1 more)
Single nucleotide variant
(nonsense)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(L176Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
SFTA3, NKX2-1
(E222* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
NKX2-1, SFTA3
(A339V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
(Q212P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
(P291L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NKX2-1, NKX2-1-AS1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
NKX2-1, NKX2-1-AS1
Single nucleotide variant
(5 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, NKX2-1-AS1
(R10Q)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
+2 more
GBenign/Likely benign
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
Benign hereditary chorea
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SFTA3, NKX2-1
(V179L +1 more)
Single nucleotide variant
(missense variant)
Benign hereditary chorea
+1 more
GBenign
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
NKX2-1-related disorder
+2 more
GLikely benign
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
(A309S +1 more)
Single nucleotide variant
(missense variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
(A365S +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
NKX2-1, SFTA3
Single nucleotide variant
(synonymous variant)
Brain-lung-thyroid syndrome
+2 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Benign hereditary chorea
+1 more
GLikely benign
NKX2-1, SFTA3
Duplication
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
Duplication
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+2 more
GBenign
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
NKX2-1, SFTA3
Duplication
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+2 more
GConflicting classifications of pathogenicity
NKX2-1, SFTA3
Duplication
(3 prime UTR variant)
not provided
+2 more
GBenign
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Benign hereditary chorea
+1 more
GBenign
NKX2-1, SFTA3
Duplication
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
Deletion
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
Duplication
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Benign hereditary chorea
+1 more
GUncertain significance
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Benign hereditary chorea
+1 more
GBenign
NKX2-1, SFTA3
Deletion
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GLikely benign
NKX2-1, SFTA3
Single nucleotide variant
(3 prime UTR variant)
Brain-lung-thyroid syndrome
+1 more
GUncertain significance
NKX2-1, SFTA3
(S175* +1 more)
Single nucleotide variant
(nonsense)
Dystonic disorder
+1 more
GPathogenic
NKX2-1, SFTA3
Single nucleotide variant
(splice acceptor variant)
Brain-lung-thyroid syndrome
GPathogenic
NKX2-1, SFTA3
(Y116fs +1 more)
Duplication
(frameshift variant)
Brain-lung-thyroid syndrome
GPathogenic
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