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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(A1066fs)
Deletion
(frameshift variant)
Arteriovenous malformation
GLikely pathogenic
EPHB4, LOC126860124
(F867S)
Single nucleotide variant
(missense variant)
Arteriovenous malformation
GPathogenic
HRAS, LRRC56
Indel
(inframe_indel +1 more)
Arteriovenous malformation
GPathogenic
ADGRV1
(I1730F)
Single nucleotide variant
(missense variant +1 more)
Cerebral arteriovenous malformation
+3 more
GUncertain significance
CACNA1H
(S2295F +1 more)
Single nucleotide variant
(missense variant)
Cerebral arteriovenous malformation
+6 more
GConflicting classifications of pathogenicity
GLI2
(T882S +2 more)
Single nucleotide variant
(missense variant)
Arteriovenous malformation
+10 more
GUncertain significance
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