"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL4A5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1179119	NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp)	COL4A5 (G31W)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1438782	NM_033380.3(COL4A5):c.231+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1428941	NM_033380.3(COL4A5):c.271A>G (p.Ile91Val)	COL4A5 (I91V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
Select item 1179130	NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg)	COL4A5 (G123R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24265	NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)	COL4A5 (G129R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 829984	NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr)	COL4A5 (P146T)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 974468	NM_033380.3(COL4A5):c.465+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 266003	NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)	COL4A5 (M163T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 447213	NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)	COL4A5 (G171R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1537097	NM_033380.3(COL4A5):c.528A>G (p.Pro176=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 562438	NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp)	COL4A5 (G177D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 452664	NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)	COL4A5 (G192W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 618579	NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg)	COL4A5 (G207R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1066320	NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg)	COL4A5 (G213R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 790243	NM_033380.3(COL4A5):c.646-6C>T	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +1 more	GBenign/Likely benign
Select item 562417	NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)	COL4A5 (G216E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 970777	NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr)	COL4A5 (K226T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 562428	NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)	COL4A5 (G233A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 753169	NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg)	COL4A5 (Q260R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 24325	NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)	COL4A5 (R266*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1507208	NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg)	COL4A5 (G267R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1066754	NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu)	COL4A5 (G273E)	Single nucleotide variant (missense variant)	COL4A5-related disorder +2 more	GLikely pathogenic
Select item 1460453	NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg)	COL4A5 (G292R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 24336	NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)	COL4A5 (G295D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1448875	NM_033380.3(COL4A5):c.891+1G>T	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1661515	NM_033380.3(COL4A5):c.892-16del	COL4A5	Deletion (intron variant)	X-linked Alport syndrome +1 more	GBenign/Likely benign
Select item 1120767	NM_033380.3(COL4A5):c.892-4A>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1522243	NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser)	COL4A5 (G307S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 447214	NM_033380.3(COL4A5):c.935del (p.Pro312fs)	COL4A5 (P312fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 24352	NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)	COL4A5 (G325R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GPathogenic
Select item 439522	NM_033380.3(COL4A5):c.1032+17del	COL4A5	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 24367	NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)	COL4A5 (R373*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 870363	NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)	COL4A5 (G374R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 720621	NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu)	COL4A5 (P396L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 24383	NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val)	COL4A5 (G406V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1179155	NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala)	COL4A5 (G409A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1500867	NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)	COL4A5 (G412E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 24393	NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	COL4A5 (G426R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 256277	NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)	COL4A5 (A430D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 24398	NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)	COL4A5 (I444S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 235810	NM_033380.3(COL4A5):c.1339+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1594660	NM_033380.3(COL4A5):c.1423+10C>T	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 24412	NM_033380.3(COL4A5):c.1424-20T>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1513803	NM_033380.3(COL4A5):c.1432G>T (p.Gly478Cys)	COL4A5 (G478C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
Select item 1169536	NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu)	COL4A5 (S490L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GBenign/Likely benign
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 1169852	NM_033380.3(COL4A5):c.1497A>G (p.Pro499=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1531792	NM_033380.3(COL4A5):c.1530C>T (p.Phe510=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome +1 more	GLikely benign
Select item 1372042	NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg)	COL4A5 (G515R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1153608	NM_033380.3(COL4A5):c.1546G>C (p.Glu516Gln)	COL4A5 (E516Q)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely benign
Select item 439520	NM_033380.3(COL4A5):c.1588-13T>G	COL4A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1475138	NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp)	COL4A5 (G576D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1329622	NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu)	COL4A5 (K590E)	Single nucleotide variant (missense variant)	not provided +1 more	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 1034483	NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val)	COL4A5 (G626V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1165601	NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys)	COL4A5 (Q637K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1167803	NM_033380.3(COL4A5):c.1979C>T (p.Thr660Ile)	COL4A5 (T660I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1066653	NM_033380.3(COL4A5):c.2042-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 24482	NM_033380.3(COL4A5):c.2057del (p.Pro686fs)	COL4A5 (P686fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1581019	NM_033380.3(COL4A5):c.2147-12A>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 24499	NM_033380.3(COL4A5):c.2244+1G>T	COL4A5	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1170678	NM_033380.3(COL4A5):c.2244+9C>T	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1126239	NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)	COL4A5 (P783L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 994527	NM_033380.3(COL4A5):c.2396-1G>C	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1169671	NM_033380.3(COL4A5):c.2400T>C (p.Asp800=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 24527	NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])	COL4A5	Microsatellite (inframe_deletion)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1167644	NM_033380.3(COL4A5):c.2466A>G (p.Gly822=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome +1 more	GBenign/Likely benign
Select item 24529	NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)	COL4A5 (G834R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1424204	NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val)	COL4A5 (G834V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1304484	NM_033380.3(COL4A5):c.2516A>G (p.His839Arg)	COL4A5 (H839R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
Select item 830017	NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu)	COL4A5 (K845E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 748685	NM_033380.3(COL4A5):c.2571A>G (p.Gly857=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1310220	NM_033380.3(COL4A5):c.2572C>A (p.Pro858Thr)	COL4A5 (P858T)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
Select item 24543	NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	COL4A5 (G869R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 968858	NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)	COL4A5 (G878E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 1102701	NM_033380.3(COL4A5):c.2667T>C (p.Ser889=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome +1 more	GLikely benign
Select item 235662	NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)	COL4A5 (G908E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 1520447	NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg)	COL4A5 (G932R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 765896	NM_033380.3(COL4A5):c.2797C>T (p.Leu933Phe)	COL4A5 (L933F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 24567	NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp)	COL4A5 (G935D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1459457	NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter)	COL4A5 (E945*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1540168	NM_033380.3(COL4A5):c.2917+18T>C	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +1 more	GBenign/Likely benign
Select item 1179044	NM_033380.3(COL4A5):c.3016+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24591	NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	COL4A5 (G1030S)	Single nucleotide variant (missense variant)	Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1066759	NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)	COL4A5 (G1036E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446016	NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)	COL4A5 (P1050S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GBenign/Likely benign
Select item 1179037	NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val)	COL4A5 (G1051V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 804587	NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)	COL4A5 (G1066V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 707214	NM_033380.3(COL4A5):c.3247-10G>A	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 829910	NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)	COL4A5 (G1098D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1166487	NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome +1 more	GBenign/Likely benign
Select item 1412256	NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg)	COL4A5 (G1116R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 24621	NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)	COL4A5 (G1116V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 752537	NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome +1 more	GBenign/Likely benign
Select item 562369	NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys)	COL4A5 (G1137C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 430135	NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)	COL4A5 (G1137D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 24630	NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)	COL4A5 (G1143S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1066834	NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg)	COL4A5 (G1149R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 24638	NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	COL4A5 (G1170S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 397601	NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp)	COL4A5 (G1170D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic

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