C4746986[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975062	NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg)	COL4A5 (G99R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 975087	NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter)	COL4A5 (L220*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 1184578	NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)	COL4A5 (G334D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 975073	NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser)	COL4A5 (G409S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1806082	NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val)	COL4A5 (G542V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24436	NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)	COL4A5 (G564C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	COL4A5-related condition +5 more	GPathogenic/Likely pathogenic
Select item 1805490	NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)	COL4A5 (G702R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 975075	NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp)	COL4A5 (G778D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 975055	NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg)	COL4A5 (G825R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 24543	NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	COL4A5 (G869R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1805498	NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp)	COL4A5 (G1217D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 562403	NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)	COL4A5 (G1229S)	Single nucleotide variant (missense variant)	COL4A5-related condition +2 more	GPathogenic
Select item 975852	NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val)	COL4A5 (G1235V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 975065	NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)	COL4A5 (Q1367fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1806169	NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg)	COL4A5 (G1388R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1803954	NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)	COL4A5 (Y1597C +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 24780	NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr)	COL4A5 (C1638Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 24786	NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter)	COL4A5 (R1677* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 10467	NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	COL4A5 (R1677Q +1 more)	Single nucleotide variant (missense variant)	COL4A5-related condition +2 more	GPathogenic/Likely pathogenic

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Items: 20