"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666682	NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly)	COL4A5 (S136G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 24367	NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)	COL4A5 (R373*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome +2 more	GPathogenic
Select item 24398	NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)	COL4A5 (I444S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +3 more	GBenign/Likely benign
Select item 1285134	NM_033380.3(COL4A5):c.1525G>T (p.Gly509Cys)	COL4A5 (G509C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 24481	NM_033380.3(COL4A5):c.2055T>C (p.Leu685=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome +2 more	GBenign
Select item 256280	NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)	COL4A5	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GBenign
Select item 1206073	NM_033380.3(COL4A5):c.3808+7C>T	COL4A5	Single nucleotide variant (intron variant)	COL4A5-related disorder +1 more	GLikely benign

ClinVar