ClinVar (all) for Orgtrack (Select 508468) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683494	NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter)	COL4A4 (C55*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome	GPathogenic
Select item 422936	NM_000092.5(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup)	COL4A4	Duplication (inframe_insertion)	Autosomal dominant Alport syndrome +1 more	GConflicting classifications of pathogenicity