"Eurofins-Biomnis"[submitter] AND "MFF-DT"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635538	NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)	COL4A3, MFF-DT (G242E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2506491	NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu)	COL4A3, MFF-DT (G366E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 632350	NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)	COL4A3, MFF-DT (G407R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GPathogenic/Likely pathogenic
Select item 334762	NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)	COL4A3, MFF-DT (H495Y)	Single nucleotide variant (missense variant)	COL4A3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 562351	NM_000091.5(COL4A3):c.1504+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2506471	NM_000091.5(COL4A3):c.1758+3del	COL4A3, MFF-DT	Deletion (splice donor variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2506490	NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)	COL4A3, MFF-DT (G827E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	COL4A3, MFF-DT (L1474P)	Single nucleotide variant (missense variant)	COL4A3-related condition +7 more	GConflicting classifications of pathogenicity