ClinVar for MedGen (Select 1681142) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393140	NM_019055.6(ROBO4):c.1042_1048dup	ROBO4	Microsatellite (splice acceptor variant)	Aortic valve disease 3	GLikely pathogenic
Select item 3236629	NM_019055.6(ROBO4):c.2092C>A (p.Leu698Met)	ROBO4 (L553M +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3	GUncertain significance
Select item 3024526	NM_019055.6(ROBO4):c.746T>C (p.Leu249Pro)	ROBO4 (L104P +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3	GUncertain significance
Select item 2585562	NM_019055.6(ROBO4):c.2758G>A (p.Gly920Ser)	ROBO4 (G775S +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3	GUncertain significance
Select item 2441673	NM_019055.6(ROBO4):c.980_981del (p.Ser327fs)	ROBO4 (S182fs +1 more)	Microsatellite (frameshift variant)	Aortic valve disease 3	GLikely pathogenic
Select item 2435454	NM_019055.6(ROBO4):c.2182C>T (p.Gln728Ter)	ROBO4 (Q583* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 3	GUncertain significance
Select item 2435453	NM_019055.6(ROBO4):c.184A>G (p.Thr62Ala)	ROBO4 (T62A)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 3	GUncertain significance
Select item 1805002	NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys)	ROBO4 (R489C +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3 +1 more	GConflicting classifications of pathogenicity
Select item 1804989	NM_019055.6(ROBO4):c.1678C>T (p.Arg560Cys)	ROBO4 (R415C +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3 +1 more	GUncertain significance
Select item 1676230	NM_019055.6(ROBO4):c.1471C>T (p.Arg491Cys)	ROBO4 (R346C +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3	GUncertain significance
Select item 1333606	NM_019055.6(ROBO4):c.1146C>G (p.Tyr382Ter)	ROBO4 (Y237* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 3	GLikely pathogenic
Select item 1328436	NM_019055.6(ROBO4):c.691T>A (p.Tyr231Asn)	ROBO4 (Y231N +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3	GUncertain significance
Select item 1284937	NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp)	ROBO4 (G517D +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 3 +2 more	GBenign/Likely benign
Select item 560404	NM_019055.6(ROBO4):c.2056+1G>T	ROBO4	Single nucleotide variant (splice donor variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560398	NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)	ROBO4 (R568* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 3 +3 more	GConflicting classifications of pathogenicity
Select item 560394	NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	ROBO4 (R64C)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 3 +2 more	GConflicting classifications of pathogenicity