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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SENP6
(R157*)
Single nucleotide variant
(nonsense +1 more)
Epicanthus
+3 more
GLikely benign
NFIX
(G147E +5 more)
Single nucleotide variant
(missense variant)
Pointed chin
+14 more
GLikely pathogenic
Translocation
Attention deficit hyperactivity disorder
+29 more
GPathogenic
Translocation
Corpus callosum, agenesis of
+24 more
GUncertain significance
FBN1
(G47S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GConflicting classifications of pathogenicity
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