List of variants in gene COL4A5 reported as pathogenic by Athena Diagnostics Inc

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: 45

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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.1032+1G>C	rs1569491753
NM_033380.3(COL4A5):c.1084G>A (p.Gly362Arg)	rs281874656
NM_033380.3(COL4A5):c.1093G>A (p.Gly365Arg)	rs2147788229
NM_033380.3(COL4A5):c.1258G>A (p.Gly420Arg)	rs1556410266
NM_033380.3(COL4A5):c.1259G>T (p.Gly420Val)	rs281874663
NM_033380.3(COL4A5):c.1738C>T (p.Gln580Ter)	rs281874676
NM_033380.3(COL4A5):c.2095G>T (p.Gly699Ter)	rs1569495049
NM_033380.3(COL4A5):c.2142dup (p.Lys715fs)	rs1603292081
NM_033380.3(COL4A5):c.2396-1G>C	rs886041509
NM_033380.3(COL4A5):c.2414G>A (p.Gly805Glu)	rs1556418210
NM_033380.3(COL4A5):c.2431G>A (p.Gly811Arg)	rs104886182
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])	rs104886356
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)	rs281874696
NM_033380.3(COL4A5):c.2509+1G>A	rs1556418287
NM_033380.3(COL4A5):c.2513T>G (p.Leu838Ter)	rs1603297223
NM_033380.3(COL4A5):c.2538_2539dup (p.Asp847fs)	rs1556419800
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp)	rs281874702
NM_033380.3(COL4A5):c.2767+1G>C	rs1603297903
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser)	rs104886219
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)	rs104886221
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)	rs104886221
NM_033380.3(COL4A5):c.3368del (p.Phe1123fs)	rs1569504092
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)	rs1131691795
NM_033380.3(COL4A5):c.3585del (p.Gly1196fs)	rs1569505604
NM_033380.3(COL4A5):c.3586G>A (p.Gly1196Arg)	rs104886244
NM_033380.3(COL4A5):c.3614G>A (p.Gly1205Asp)	rs1556446493
NM_033380.3(COL4A5):c.3695del (p.Gly1232fs)	rs1556446657
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp)	rs104886261
NM_033380.3(COL4A5):c.3940C>T (p.Gln1314Ter)	rs2147975189
NM_033380.3(COL4A5):c.404G>A (p.Gly135Asp)	rs1556403086
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)	rs1556453276
NM_033380.3(COL4A5):c.4087+1G>A	rs587776401
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs)	rs1569507535
NM_033380.3(COL4A5):c.465+1_465+5del	rs1556403276
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	rs281874743
NM_033380.3(COL4A5):c.4707-1G>C	rs1556462917
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)	rs104886303
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)	rs1556404027
NM_033380.3(COL4A5):c.611_612del (p.Gly204fs)	rs281874759
NM_033380.3(COL4A5):c.781-1G>A	rs1603283547
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.884G>A (p.Gly295Asp)	rs104886079
NM_033380.3(COL4A5):c.935del (p.Pro312fs)	rs1556407078

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