"Baylor Genetics"[submitter] AND "MFF-DT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029642	NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)	COL4A3, MFF-DT (V194I)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 553434	NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)	COL4A3, MFF-DT (R221fs)	Microsatellite (frameshift variant)	Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1422757	NM_000091.5(COL4A3):c.1262del (p.Gly421fs)	COL4A3, MFF-DT (G421fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome +4 more	GPathogenic/Likely pathogenic
Select item 551759	NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)	COL4A3, MFF-DT (G439S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1029641	NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)	COL4A3, MFF-DT (G560V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 501978	NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)	MFF-DT, COL4A3 (A1482V)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity

ClinVar