"Department of Human Genetics, Hannover Medical School"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664328	NM_033380.3(COL4A5):c.1443C>A (p.Cys481Ter)	COL4A5 (C481*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 1705447	NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp)	COL4A5 (G1018D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic