"Centogene AG - the Rare Disease Company"[submitter] AND "COL4A5"[gene - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342010	NM_033380.3(COL4A5):c.347del (p.Pro116fs)	COL4A5 (P116fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1342015	NM_033380.3(COL4A5):c.466G>C (p.Gly156Arg)	COL4A5 (G156R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1342011	NM_033380.3(COL4A5):c.883G>A (p.Gly295Ser)	COL4A5 (G295S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1342013	NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs)	COL4A5 (P459fs)	Indel (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1342009	NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs)	COL4A5 (V473fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
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
Select item 1342012	NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val)	COL4A5 (G926V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1342005	NM_033380.3(COL4A5):c.3106+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1341995	NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg)	COL4A5 (G1170R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1342014	NM_033380.3(COL4A5):c.3554-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1002655	NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu)	COL4A5 (P1287L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance