List of variants in gene COL4A5 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 46

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	rs104886111	0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	rs104886237	0.00001
NM_033380.3(COL4A5):c.4315+1G>A	rs587776403	0.00001
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)	rs104886093
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)	rs104886094
NM_033380.3(COL4A5):c.1267G>T (p.Gly423Ter)
NM_033380.3(COL4A5):c.1294G>A (p.Gly432Arg)	rs281874664
NM_033380.3(COL4A5):c.1570G>T (p.Gly524Cys)	rs1170254952
NM_033380.3(COL4A5):c.1780-2A>G
NM_033380.3(COL4A5):c.1808G>T (p.Gly603Val)	rs104886133
NM_033380.3(COL4A5):c.1861G>A (p.Gly621Ser)	rs104886141
NM_033380.3(COL4A5):c.1869del (p.Gly624fs)	rs1085307808
NM_033380.3(COL4A5):c.2057del (p.Pro686fs)	rs104886167
NM_033380.3(COL4A5):c.2228G>A (p.Gly743Asp)	rs104886166
NM_033380.3(COL4A5):c.2244+1G>T	rs281874688
NM_033380.3(COL4A5):c.2396-1G>T	rs886041509
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu)	rs1556418210
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)	rs281874696
NM_033380.3(COL4A5):c.2510-1_2523del	rs1064794029
NM_033380.3(COL4A5):c.2604del (p.Gly869fs)	rs1556419850
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.2660G>T (p.Gly887Val)	rs104886201
NM_033380.3(COL4A5):c.2722G>T (p.Gly908Ter)	rs281874703
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	rs104886210
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)	rs104886212
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg)	rs104886225
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)	rs1131691795
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)	rs104886228
NM_033380.3(COL4A5):c.3538C>T (p.Gln1180Ter)	rs104886241
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val)	rs2068130178
NM_033380.3(COL4A5):c.4529-345A>G	rs1569508899
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)	rs104886286
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)	rs104886303
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)	rs281874753
NM_033380.3(COL4A5):c.529G>T (p.Gly177Cys)	rs104886056
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)	rs104886060
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val)	rs104886061
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs)	rs281874759
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys)	rs281874761
NM_033380.3(COL4A5):c.679G>A (p.Gly227Ser)	rs1556405916
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)	rs104886071
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)	rs104886073
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)	rs104886088
NM_033380.3(COL4A5):c.990+1G>T	rs1556407701

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