"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930480	NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)	COL4A5 (G96V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24291	NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg)	COL4A5 (G192R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 523549	NM_033380.3(COL4A5):c.808G>A (p.Gly270Arg)	COL4A5 (G270R)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 24349	NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp)	COL4A5 (G319D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 931906	NM_033380.3(COL4A5):c.1033-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 24406	NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu)	COL4A5 (G466E)	Single nucleotide variant (missense variant)	Hematuria +1 more	GLikely pathogenic
Select item 523544	NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA	COL4A5	Deletion	Downslanted palpebral fissures +3 more	GPathogenic
Select item 931024	NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)	COL4A5 (Q495K)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +4 more	GPathogenic/Likely pathogenic
Select item 24470	NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp)	COL4A5 (G666D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 932073	NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)	COL4A5 (I706V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 523545	NM_033380.3(COL4A5):c.2182G>A (p.Gly728Arg)	COL4A5 (G728R)	Single nucleotide variant (missense variant)	Mild proteinuria +2 more	GUncertain significance
Select item 523546	NM_033380.3(COL4A5):c.3588A>G (p.Gly1196=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome	GUncertain significance
Select item 523547	NM_033380.3(COL4A5):c.3614G>T (p.Gly1205Val)	COL4A5 (G1205V)	Single nucleotide variant (missense variant)	Chronic kidney disease +2 more	GPathogenic
Select item 523548	NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs)	COL4A5 (I1630fs +1 more)	Duplication (frameshift variant)	Proteinuria +1 more	GLikely pathogenic