ClinVar for MedGen (Select 163631) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560405	NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)	ROBO4 (G389fs +1 more)	Deletion (frameshift variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
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 560403	NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val)	ROBO4 (D510V +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GUncertain significance
Select item 560402	NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)	ROBO4 (A604L +1 more)	Indel (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560401	NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)	ROBO4 (D622H +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560400	NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)	ROBO4 (Y280S +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560399	NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)	ROBO4 (V247A +1 more)	Single nucleotide variant (missense 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)	ROBO4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 560397	NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)	ROBO4 (H411Q +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560396	NM_019055.6(ROBO4):c.695C>T (p.Thr232Met)	ROBO4 (T232M +1 more)	Single nucleotide variant (missense variant)	Bicuspid aortic valve +1 more	GLikely pathogenic
Select item 560395	NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)	ROBO4 (A95T)	Single nucleotide variant (5 prime UTR variant +1 more)	Bicuspid aortic valve +1 more	GLikely pathogenic
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
Select item 374151	NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup)	ELN	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +11 more	GPathogenic/Likely pathogenic
Select item 36862	NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)	TGFBR2 (V387L +8 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GConflicting classifications of pathogenicity