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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP73
(R446C +6 more)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 47, and lissencephaly
GUncertain significance
TP73
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 47, and lissencephaly
GBenign
TP73
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 47, and lissencephaly
GBenign
TP73
Single nucleotide variant
(5 prime UTR variant)
Ciliary dyskinesia, primary, 47, and lissencephaly
GBenign
TP73
(R393C +6 more)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 47, and lissencephaly
GUncertain significance
TP73
(V377M +2 more)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 47, and lissencephaly
GUncertain significance
LOC129929200, TP73
(R216H +2 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 47, and lissencephaly
GUncertain significance
TP73
(E205* +2 more)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 47, and lissencephaly
+1 more
GPathogenic/Likely pathogenic
TP73
(L388fs +4 more)
Deletion
(frameshift variant +1 more)
Ciliary dyskinesia, primary, 47, and lissencephaly
GPathogenic
TP73
(Q332* +2 more)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 47, and lissencephaly
GPathogenic
TP73
Single nucleotide variant
(splice donor variant)
Ciliary dyskinesia, primary, 47, and lissencephaly
GPathogenic
LOC129929200, TP73
+1 more
Indel
Ciliary dyskinesia, primary, 47, and lissencephaly
GPathogenic
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