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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060199, LOC130060200
+14 more
Deletion
(genic upstream transcript variant)
Intellectual disability
+29 more
GPathogenic
TBX5
(Y407* +1 more)
Single nucleotide variant
(nonsense)
Atrial septal defect, ostium secundum type
+2 more
GPathogenic
FBN1
(C160R)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+5 more
GPathogenic/Likely pathogenic
NDE1, MYH11
(D1461H +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitral regurgitation
+4 more
GLikely pathogenic
FBN1
(C2672W)
Single nucleotide variant
(missense variant)
Ectopia lentis
+6 more
GLikely pathogenic
Inversion
Hypotonia
+22 more
GPathogenic
Inversion
Cardiac arrhythmia
+12 more
GUncertain significance
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