ClinVar (all) for Orgtrack (Select 507480) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 869161	NM_033380.3(COL4A5):c.2917+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 24574	NM_033380.3(COL4A5):c.2917+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome +1 more	GPathogenic