C5882663[trait identifier] AND "Laboratory of Prof. Karen Avraham, Tel - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599069	NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)	COL4A3, MFF-DT (G115R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 599070	NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)	COL4A3, MFF-DT (R341H)	Single nucleotide variant (missense variant)	Alport syndrome 3b, autosomal recessive +5 more	GConflicting classifications of pathogenicity
Select item 334762	NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)	COL4A3, MFF-DT (H495Y)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 555905	NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	COL4A3, MFF-DT (G1277S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	COL4A3, MFF-DT (L1474P)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 24554	NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)	COL4A5 (M898V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GConflicting classifications of pathogenicity

ClinVar