C4746547[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635513	NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)	COL4A4 (G252V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 192299	NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)	COL4A3, LOC129935730	Deletion (inframe_deletion)	COL4A3-related condition +4 more	GPathogenic
Select item 266006	NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 562427	NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	MFF-DT, COL4A3 (G300R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1333468	NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg)	COL4A3, MFF-DT (G862R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2444399	NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg)	COL4A3, MFF-DT (G955R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 24543	NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	COL4A5 (G869R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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