Related gene-specific medical variations for Gene (Select 54538) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1184827	NM_019055.6(ROBO4):c.703G>A (p.Val235Met)	ROBO4 (V235M +1 more)	Single nucleotide variant (missense variant)	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1184826	NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter)	ROBO4 (E652* +1 more)	Single nucleotide variant (nonsense)	Thoracic aortic aneurysm	GLikely pathogenic

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