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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX6
(R125*)
Single nucleotide variant
(nonsense)
Spondylocostal dysostosis 5
GUncertain significance
TBX6
(L340fs)
Microsatellite
(frameshift variant)
Spondylocostal dysostosis 5
GPathogenic
TBX6
(R150S)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 5
GUncertain significance
TBX6
Single nucleotide variant
(intron variant)
Spondylocostal dysostosis 5
GUncertain significance
TBX6
(R157fs)
Duplication
(frameshift variant)
TBX6-related condition
+2 more
GConflicting classifications of pathogenicity
TBX6
Single nucleotide variant
(splice acceptor variant)
Spondylocostal dysostosis 5
GLikely pathogenic
TBX6
(Y382fs)
Duplication
(frameshift variant)
Spondylocostal dysostosis 5
GPathogenic
TBX6
(G392W)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 5
GUncertain significance
TBX6
(W233C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBX6
Single nucleotide variant
(synonymous variant)
Spondylocostal dysostosis 5
GUncertain significance
TBX6
(G426V)
Single nucleotide variant
(missense variant)
Spondylocostal dysostosis 5
GUncertain significance
TBX6
(S383*)
Single nucleotide variant
(nonsense)
Spondylocostal dysostosis 5
GPathogenic
TBX6
(G162S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TBX6
(P337L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TBX6
(R119H)
Single nucleotide variant
(missense variant)
Scoliosis
+2 more
GConflicting classifications of pathogenicity
TBX6
(T75fs)
Duplication
(frameshift variant)
Spondylocostal dysostosis 5
GPathogenic
TBX6
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TBX6
Microsatellite
(intron variant)
not specified
+2 more
GBenign
TBX6
(G395fs)
Deletion
(frameshift variant)
Spondylocostal dysostosis 5
GPathogenic
TBX6
(H391fs)
Duplication
(frameshift variant)
Spondylocostal dysostosis 5
GPathogenic
TBX6
(M236fs)
Duplication
(frameshift variant)
Spondylocostal dysostosis 5
GPathogenic
TBX6, YPEL3
+25 more
Deletion
Spondylocostal dysostosis 5
GPathogenic
TBX6
(P145L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TBX6
(V91fs)
Duplication
(frameshift variant)
Spondylocostal dysostosis 5
GPathogenic
TBX6
(L419fs)
Duplication
(frameshift variant)
Spondylocostal dysostosis 5
GPathogenic
TBX6
Single nucleotide variant
(synonymous variant +1 more)
Spondylocostal dysostosis 5
GPathogenic
TBX6
(R282*)
Single nucleotide variant
(nonsense)
Spondylocostal dysostosis 5
GPathogenic
TBX6
Single nucleotide variant
(stop lost)
Spondylocostal dysostosis 5
GPathogenic
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