C4746745[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552246	NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr)	COL4A4	Single nucleotide variant (stop lost)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 553809	NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr)	COL4A4 (C1683Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 552827	NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)	COL4A4 (R1682W)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 550714	NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys)	COL4A4 (R1677C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 557655	NM_000092.5(COL4A4):c.4932delinsTT (p.Ala1645fs)	COL4A4 (A1645fs)	Indel (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 554208	NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter)	COL4A4 (Q1635*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 552350	NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del)	COL4A4 (G1613del)	Microsatellite (inframe_deletion)	Hematuria, benign familial, 1 +1 more	GUncertain significance
Select item 552377	NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu)	COL4A4 (G1606E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554260	NM_000092.5(COL4A4):c.4809+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 551963	NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)	COL4A4 (P1587fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556396	NM_000092.5(COL4A4):c.4679_4683del (p.Arg1560fs)	COL4A4 (R1560fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 558674	NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val)	COL4A4 (A1558V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 557998	NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)	COL4A4 (Y1541*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557279	NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)	COL4A4 (Y1533*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 556874	NM_000092.5(COL4A4):c.4423G>T (p.Asp1475Tyr)	COL4A4 (D1475Y)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 523324	NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)	COL4A4 (G1465D)	Single nucleotide variant (missense variant)	Hypertensive disorder +8 more	GConflicting classifications of pathogenicity
Select item 556869	NM_000092.5(COL4A4):c.4333+2T>C	COL4A4	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 555467	NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp)	COL4A4 (G1433D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 554615	NM_000092.5(COL4A4):c.4217G>C (p.Gly1406Ala)	COL4A4 (G1406A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 556896	NM_000092.5(COL4A4):c.4091-323A>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 550710	NM_000092.5(COL4A4):c.4091-330T>C	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 553632	NM_000092.5(COL4A4):c.4091-336C>T	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 554695	NM_000092.5(COL4A4):c.4091-346A>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 554362	NM_000092.5(COL4A4):c.4091-348T>C	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 554704	NM_000092.5(COL4A4):c.4091-349G>A	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 552794	NM_000092.5(COL4A4):c.4091-356_4091-355dup	COL4A4	Duplication (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 558354	NM_000092.5(COL4A4):c.4081+22A>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 555237	NM_000092.5(COL4A4):c.4081+22A>C	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 556083	NM_000092.5(COL4A4):c.4081+15T>C	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 554103	NM_000092.5(COL4A4):c.4081+14C>T	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 557867	NM_000092.5(COL4A4):c.4081+7T>C	COL4A4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 556513	NM_000092.5(COL4A4):c.4070C>T (p.Thr1357Ile)	COL4A4 (T1357I)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 554379	NM_000092.5(COL4A4):c.4058G>A (p.Arg1353Lys)	COL4A4 (R1353K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 557390	NM_000092.5(COL4A4):c.4053A>G (p.Pro1351=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +1 more	GLikely benign
Select item 554316	NM_000092.5(COL4A4):c.4049C>T (p.Pro1350Leu)	COL4A4 (P1350L)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 555761	NM_000092.5(COL4A4):c.4041A>T (p.Leu1347Phe)	COL4A4 (L1347F)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 555176	NM_000092.5(COL4A4):c.4038T>C (p.Gly1346=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +1 more	GLikely benign
Select item 554425	NM_000092.5(COL4A4):c.4035G>C (p.Lys1345Asn)	COL4A4 (K1345N)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 554653	NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr)	COL4A4 (P1341T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554599	NM_000092.5(COL4A4):c.4002_4005dup (p.His1336fs)	COL4A4 (H1336fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 553396	NM_000092.5(COL4A4):c.4003C>G (p.Pro1335Ala)	COL4A4 (P1335A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 555663	NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 549957	NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala)	COL4A4 (G1328A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 552894	NM_000092.5(COL4A4):c.3978A>G (p.Pro1326=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 553871	NM_000092.5(COL4A4):c.3976C>A (p.Pro1326Thr)	COL4A4 (P1326T)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 557447	NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter)	COL4A4 (Q1323*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 557427	NM_000092.5(COL4A4):c.3849T>A (p.Ser1283Arg)	COL4A4 (S1283R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 447188	NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)	COL4A4 (G1245V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 552855	NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del)	COL4A4 (D1196del)	Microsatellite (inframe_deletion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 551160	NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)	COL4A4 (G1103R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554015	NM_000092.5(COL4A4):c.3151-2A>G	COL4A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 552726	NM_000092.5(COL4A4):c.3089G>T (p.Gly1030Val)	COL4A4 (G1030V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 557146	NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)	COL4A4 (G1015E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 552195	NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg)	COL4A4 (G1008R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 557135	NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer)	COL4A4	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 449549	NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)	COL4A4 (S969*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 550472	NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)	COL4A4 (G960R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556956	NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln)	COL4A4 (R947Q)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 17406	NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)	COL4A4 (G897E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 550471	NM_000092.5(COL4A4):c.2638del (p.Ala880fs)	COL4A4 (A880fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 550588	NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg)	COL4A4 (G864R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 554267	NM_000092.5(COL4A4):c.2546-1G>C	COL4A4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 553903	NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala)	COL4A4 (G837A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551332	NM_000092.5(COL4A4):c.2383+2_2383+5dup	COL4A4	Duplication (splice donor variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 556413	NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg)	COL4A4 (G792R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 242442	NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	COL4A4 (G774R)	Single nucleotide variant (missense variant)	Hearing impairment +8 more	GConflicting classifications of pathogenicity
Select item 555669	NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)	COL4A4 (D761fs)	Duplication (frameshift variant)	Benign familial hematuria +1 more	GPathogenic/Likely pathogenic
Select item 557589	NM_000092.5(COL4A4):c.2152_2154dup (p.Pro718dup)	COL4A4	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 555757	NM_000092.5(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup)	COL4A4	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 557759	NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp)	COL4A4 (G695D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 225322	NM_000092.5(COL4A4):c.2045A>G (p.Asp682Gly)	COL4A4 (D682G)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 551238	NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)	COL4A4	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 556844	NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala)	COL4A4 (G572A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 555876	NM_000092.5(COL4A4):c.1696+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 555547	NM_000092.5(COL4A4):c.1696+1G>T	COL4A4	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 556434	NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp)	COL4A4 (G533D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 554661	NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)	COL4A4 (G527C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553870	NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)	COL4A4 (G469*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 447180	NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)	COL4A4 (G466R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 553711	NM_000092.5(COL4A4):c.1369+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 555889	NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)	COL4A4	Deletion (inframe_deletion)	not provided +2 more	GLikely pathogenic
Select item 552183	NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)	COL4A4	Deletion (inframe_deletion)	Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 557603	NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)	COL4A4 (R377C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 447179	NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)	COL4A4 (G373E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 556759	NM_000092.5(COL4A4):c.1033_1050del (p.Asp345_Gly350del)	COL4A4	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555077	NM_000092.5(COL4A4):c.1030-2A>C	COL4A4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 556995	NM_000092.5(COL4A4):c.1029+2T>C	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 554189	NM_000092.5(COL4A4):c.975+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome +3 more	GLikely pathogenic
Select item 551062	NM_000092.5(COL4A4):c.975+1G>C	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 447195	NM_000092.5(COL4A4):c.871-1G>C	COL4A4	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 554161	NM_000092.5(COL4A4):c.673_680del (p.Pro225fs)	COL4A4 (P225fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 554223	NM_000092.5(COL4A4):c.657+1G>T	COL4A4	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 554366	NM_000092.5(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla)	COL4A4	Deletion (inframe_indel)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 438704	NM_000092.5(COL4A4):c.594+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 557441	NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs)	COL4A4	Duplication	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 553413	NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup)	COL4A4	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 557549	NM_000092.5(COL4A4):c.428G>T (p.Gly143Val)	COL4A4 (G143V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 551248	NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp)	COL4A4 (G137D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 554997	NM_000092.5(COL4A4):c.372+2T>G	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 551408	NM_000092.5(COL4A4):c.347G>A (p.Gly116Glu)	COL4A4 (G116E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance

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