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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ROBO4
(G775S +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 3
GUncertain significance
ROBO4
(S182fs +1 more)
Microsatellite
(frameshift variant)
Aortic valve disease 3
GLikely pathogenic
ROBO4
(Q583* +1 more)
Single nucleotide variant
(nonsense)
Aortic valve disease 3
GUncertain significance
ROBO4
(T62A)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 3
GUncertain significance
ROBO4
(R489C +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 3
GUncertain significance
ROBO4
(R415C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ROBO4
(R346C +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 3
GUncertain significance
ROBO4
(Y237* +1 more)
Single nucleotide variant
(nonsense)
Aortic valve disease 3
GLikely pathogenic
ROBO4
(Y231N +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 3
GUncertain significance
ROBO4
(G517D +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
ROBO4
Single nucleotide variant
(splice donor variant)
Bicuspid aortic valve
+1 more
GLikely pathogenic
ROBO4
(R64C)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 3
+2 more
GConflicting classifications of pathogenicity
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