Total 1458 pathogenic variants reported for Alport syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) SNV
Germline		 ChrX:108665561 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA255260 rs_104886229

1 SubmittersRCV000011204
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys) SNV
Germline		 ChrX:108597042 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA255264 rs_104886121

1 SubmittersRCV000011208
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu) SNV
Germline		 ChrX:108582921 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA255266 rs_104886091

1 SubmittersRCV000011209
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp) SNV
Germline		 ChrX:108559083 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA255268 rs_104886043

1 SubmittersRCV000011211
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) SNV
Germline		 ChrX:108695409 Pathogenic X-linked Alport syndrome
Condition: not provided
Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340979 rs_104886303

11 SubmittersRCV000011212RCV000440813RCV001195698RCV003398479
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) SNV
Germline		 ChrX:108696350 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided
Hematuria
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340981 rs_104886308

14 SubmittersRCV000011213RCV000518046RCV001328066RCV003934823
NM_000092.5(COL4A4):c.3601G>A (p.Gly1201Ser) SNV
Germline		 Chr2:227032253 Pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA257914 rs_121912858

1 SubmittersRCV000018947
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) SNV
Germline		 Chr2:227032049 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257916 rs_121912859

3 SubmittersRCV000018948RCV002513114RCV002496408
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) SNV
Germline		 Chr2:227055971 Pathogenic/Likely pathogenic Benign familial hematuria
Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127186 rs_121912860

9 SubmittersRCV000018949RCV000666567RCV000710841RCV002496409RCV004576907
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) SNV
Germline		 Chr2:227022135 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Alport syndrome
Kidney damage
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257919 rs_121912861

11 SubmittersRCV000018950RCV000681673RCV000787008RCV001251501RCV001328062RCV001526639RCV004528124
NM_000092.5(COL4A4):c.4923C>A (p.Cys1641Ter) SNV
Germline		 Chr2:227007475 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA257922 rs_121912862

2 SubmittersRCV000018951RCV002514112
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) SNV
Germline		 Chr2:227008112 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Kidney disorder
not specified
Inborn genetic diseases
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA257925 rs_121912863

10 SubmittersRCV000018952RCV001245590RCV002293986RCV000825912RCV004018643RCV001140736
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) SNV
Germline		 Chr2:227307898 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257967 rs_121912824

7 SubmittersRCV000019036RCV000760446RCV000763473RCV001273243
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) SNV
Germline		 Chr2:227309007 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257970 rs_121912825

3 SubmittersRCV000019037RCV001851933
NM_000091.5(COL4A3):c.4929-388G>T SNV
Germline		 Chr2:227311398 Pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 rs_1325453230

1 SubmittersRCV000019040
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) SNV
Germline		 Chr2:227290062 Likely pathogenic Benign familial hematuria
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127228 rs_121912826

3 SubmittersRCV000019041RCV001281227
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) SNV
Germline		 Chr2:227289222 Conflicting classifications of pathogenicity Benign familial hematuria
Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA127230 rs_121912827

5 SubmittersRCV000019042RCV000485138RCV000675182RCV001831587
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) SNV
Germline		 Chr2:227295044 Pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257973 rs_267606745

6 SubmittersRCV000019044RCV000673273RCV000681815RCV001273241RCV002496412
NM_033380.3(COL4A5):c.1A>G (p.Met1Val) SNV
Germline		 ChrX:108440126 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258193 rs_104886050

2 SubmittersRCV000021092RCV001381883
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) SNV
Germline		 ChrX:108571413 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258232 rs_281874722

4 SubmittersRCV000021143RCV001381887
NM_033380.3(COL4A5):c.466-12G>A SNV
Germline		 ChrX:108573562 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258253 rs_104886414

1 SubmittersRCV000021154
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) SNV
Germline		 ChrX:108573646 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874755

1 SubmittersRCV002468840
NM_033380.3(COL4A5):c.546+1G>A SNV
Germline		 ChrX:108573655 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886429

1 SubmittersRCV003335820
NM_033380.3(COL4A5):c.547-1G>A SNV
Germline		 ChrX:108575909 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_104886431

2 SubmittersRCV003389146RCV003553892
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) SNV
Unknown		 ChrX:108575937 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258274 rs_104886060

1 SubmittersRCV000021169
NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp) SNV
Germline		 ChrX:108575947 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258276 rs_104886061

1 SubmittersRCV000021170
NM_033380.3(COL4A5):c.609+1G>A SNV
Germline		 ChrX:108575973 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886434

1 SubmittersRCV002468841
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) SNV
Germline		 ChrX:108577953 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258289 rs_104886063

2 SubmittersRCV000021178RCV001851986
NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu) SNV
Germline		 ChrX:108577980 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886066

2 SubmittersRCV003066362RCV003152810
NM_033380.3(COL4A5):c.687+1G>A SNV
Germline		 ChrX:108578120 Pathogenic X-linked Alport syndrome
Alport syndrome		 Criteria Provided
Single Submitter
 CA258310 rs_104886440

2 SubmittersRCV000021190RCV001328299
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) SNV
Germline		 ChrX:108580548 Pathogenic Condition: not provided
Alport syndrome
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258328 rs_104886071

6 SubmittersRCV000518117RCV001328292RCV000021203
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg) SNV
Germline		 ChrX:108580721 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886073

2 SubmittersRCV001951601RCV002497893
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) SNV
Germline		 ChrX:108580731 Pathogenic Condition: not provided
Alport syndrome
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258346 rs_104886079

4 SubmittersRCV000516371RCV001328073RCV000021214
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) SNV
Unknown		 ChrX:108582903 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258369 rs_104886086

1 SubmittersRCV000021227
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) SNV
Germline		 ChrX:108582920 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255262 rs_104886088

5 SubmittersRCV000011205RCV000521446
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) SNV
Germline		 ChrX:108586676 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258397 rs_104886096

1 SubmittersRCV000021243
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) SNV
Germline		 ChrX:108586699 Pathogenic Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258404 rs_104886094

8 SubmittersRCV001207646RCV001831593RCV003421928
NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu) SNV
Germline		 ChrX:108591091 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886107

1 SubmittersRCV001807936
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val) SNV
Germline		 ChrX:108591109 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258427 rs_104886100

2 SubmittersRCV001389670RCV002504817
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) SNV
Germline		 ChrX:108591118 Pathogenic Alport syndrome
Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258437 rs_104886101

6 SubmittersRCV001328297RCV002513158RCV003444195RCV003924852
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) SNV
Germline		 ChrX:108591168 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided
COL4A5-related disorder
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258449 rs_104886111

9 SubmittersRCV000021272RCV000520914RCV003421929RCV004018651
NM_033380.3(COL4A5):c.1340-2A>G SNV
Unknown		 ChrX:108591559 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886319

1 SubmittersRCV003152907
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) SNV
Germline		 ChrX:108591644 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258476 rs_281874667

2 SubmittersRCV000021288RCV001851987
NM_033380.3(COL4A5):c.1424-20T>A SNV
Germline		 ChrX:108595489 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258480 rs_281874668

2 SubmittersRCV001582492RCV002490400
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp) SNV
Germline		 ChrX:108595566 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258484 rs_104886118

1 SubmittersRCV000021295
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) SNV
Unknown		 ChrX:108595583 Likely pathogenic Alport syndrome No Assertion Criteria Provided
 CA258488 rs_281874670

1 SubmittersRCV001328070
NM_033380.3(COL4A5):c.1562G>A (p.Gly521Asp) SNV
Germline		 ChrX:108597043 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886122

2 SubmittersRCV001953716RCV003236591
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp) SNV
Germline		 ChrX:108597432 Pathogenic/Likely pathogenic X-linked Alport syndrome
Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258512 rs_281874673

3 SubmittersRCV000021311RCV001328298RCV001228281
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) SNV
Germline		 ChrX:108597479 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258520 rs_281874674

3 SubmittersRCV000021315RCV003556066
NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu) SNV
Germline		 ChrX:108597525 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886130

1 SubmittersRCV003143665
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) SNV
Germline		 ChrX:108598793 Pathogenic/Likely pathogenic X-linked Alport syndrome
Hypertensive disorder
Mild proteinuria
Glomerulopathy
Condition: not provided
Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258560 rs_104886142

26 SubmittersRCV000021334RCV000414817RCV000324895RCV001328295RCV003904857
NM_033380.3(COL4A5):c.1912G>A (p.Gly638Ser) SNV
Germline		 ChrX:108598834 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258573 rs_104886147

1 SubmittersRCV000021340
NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp) SNV
Unknown		 ChrX:108601441 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258586 rs_104886153

1 SubmittersRCV000021349
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu) SNV
Germline		 ChrX:108602982 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA258630 rs_104886163

1 SubmittersRCV000021373
NM_033380.3(COL4A5):c.2244+1G>T SNV
Germline		 ChrX:108603062 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258641 rs_281874688

2 SubmittersRCV001588821RCV002476999
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) SNV
Germline		 ChrX:108606785 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258647 rs_281874689

4 SubmittersRCV000021382RCV001067665
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) SNV
Germline		 ChrX:108615015 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258697 rs_281874696

4 SubmittersRCV000991628RCV002496434
NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu) SNV
Germline		 ChrX:108620346 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258717 rs_104886188

1 SubmittersRCV000021420
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) SNV
Germline		 ChrX:108620354 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome
Atypical hemolytic-uremic syndrome
Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258720 rs_104886189

11 SubmittersRCV000311568RCV000021422RCV001328145RCV001328141RCV001849275
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) SNV
Unknown		 ChrX:108621847 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258745 rs_281874703

1 SubmittersRCV000021436
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu) SNV
Germline		 ChrX:108621857 Pathogenic/Likely pathogenic X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886363

2 SubmittersRCV002283810RCV003395444
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) SNV
Germline		 ChrX:108622712 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258766 rs_104886195

2 SubmittersRCV000681804RCV002504818
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) SNV
Germline		 ChrX:108622766 Conflicting classifications of pathogenicity X-linked Alport syndrome
not specified
Condition: not provided
Kidney disorder
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 CA258777 rs_78972735

11 SubmittersRCV000021452RCV000598479RCV000710871RCV002293989RCV003952369
NM_033380.3(COL4A5):c.2917+1G>C SNV
Germline		 ChrX:108622826 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258779 rs_104886371

4 SubmittersRCV000021453RCV000681779
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) SNV
Germline		 ChrX:108625776 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
Nephrotic syndrome
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258803 rs_104886210

7 SubmittersRCV001387178RCV001563661RCV001849277RCV002288515
NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser) SNV
Germline		 ChrX:108626218 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886214

1 SubmittersRCV003236663
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter) SNV
Germline		 ChrX:108626281 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258816 rs_104886217

2 SubmittersRCV000021478RCV001240569
NM_033380.3(COL4A5):c.3181C>T (p.Gln1061Ter) SNV
Germline		 ChrX:108626284 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886213

1 SubmittersRCV001808920
NM_033380.3(COL4A5):c.3196G>A (p.Gly1066Ser) SNV
Germline		 ChrX:108626299 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258827 rs_104886219

3 SubmittersRCV000021482RCV000710872
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) SNV
Germline		 ChrX:108626309 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258832 rs_281874712

2 SubmittersRCV000021484RCV001035050
NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg) SNV
Germline		 ChrX:108655403 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258854 rs_104886225

4 SubmittersRCV000021496RCV001387180
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) SNV
Germline		 ChrX:108655431 Likely pathogenic X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258859 rs_281874713

4 SubmittersRCV000021500RCV003892109
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) SNV
Germline		 ChrX:108665560 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258865 rs_104886228

9 SubmittersRCV000021509RCV000681895RCV003894817
NM_033380.3(COL4A5):c.3455-9A>G SNV
Germline		 ChrX:108666487 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258868 rs_104886388

2 SubmittersRCV001382249RCV003338386
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) SNV
Germline		 ChrX:108666540 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886236

1 SubmittersRCV002468691
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) SNV
Germline		 ChrX:108666549 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 CA258878 rs_104886237

10 SubmittersRCV000021517RCV001382251RCV003934847
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu) SNV
Unknown		 ChrX:108668346 Pathogenic Alport syndrome No Assertion Criteria Provided
 CA258914 rs_104886247

1 SubmittersRCV001328190
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) SNV
Germline		 ChrX:108668373 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258923 rs_104886251

4 SubmittersRCV000021545RCV001851988
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) SNV
Germline		 ChrX:108668435 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258942 rs_104886255

5 SubmittersRCV000021555RCV001857352
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) SNV
Germline		 ChrX:108668445 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258947 rs_104886261

4 SubmittersRCV000710877RCV002496435
NM_033380.3(COL4A5):c.4217-1G>A SNV
Germline		 ChrX:108686030 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259003 rs_587776402

2 SubmittersRCV000021593RCV001804743
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) SNV
Germline		 ChrX:108686060 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA259005 rs_104886270

8 SubmittersRCV000021597RCV000782215RCV002247376
NM_033380.3(COL4A5):c.4315+1G>A SNV
Germline		 ChrX:108686130 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259021 rs_587776403

4 SubmittersRCV000021604RCV001382253
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg) SNV
Germline		 ChrX:108687508 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886276

2 SubmittersRCV001958775RCV002484809
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser) SNV
Germline		 ChrX:108687526 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886279

2 SubmittersRCV001959071RCV002484812
NM_033380.3(COL4A5):c.4528+1G>C SNV
Germline		 ChrX:108687695 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886413

1 SubmittersRCV004577577
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser) SNV
Germline		 ChrX:108692850 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA259071 rs_104886293

1 SubmittersRCV000021630
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter) SNV
Germline		 ChrX:108692924 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259080 rs_104886286

4 SubmittersRCV000435037RCV001328294
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) SNV
Germline		 ChrX:108692925 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided
Hearing impairment
Kidney disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259087 rs_281874743

8 SubmittersRCV000021636RCV000518063RCV001375165RCV002293990
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) SNV
Germline		 ChrX:108694809 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342587 rs_104886287

4 SubmittersRCV000021640RCV001047411
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu) SNV
Germline		 ChrX:108694869 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_281874747

2 SubmittersRCV002013926RCV002498036
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) SNV
Germline		 ChrX:108694908 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886298

3 SubmittersRCV002468692RCV002569361
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) SNV
Germline		 ChrX:108695376 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259134 rs_104886302

2 SubmittersRCV000021659RCV001389981
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) SNV
Germline		 ChrX:108696340 Pathogenic X-linked Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259143 rs_281874753

6 SubmittersRCV000021665RCV000681926RCV003886366
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) SNV
Germline		 ChrX:108696349 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259147 rs_104886306

3 SubmittersRCV001389982RCV002470715
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) SNV
Germline		 ChrX:108686096 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 rs_144282156

7 SubmittersRCV000782218RCV001580476RCV003417844
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys) SNV
Germline		 ChrX:108578097 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA261044 rs_281874761

3 SubmittersRCV000032053RCV000405636
NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp) SNV
Unknown		 ChrX:108597378 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA261057 rs_281874671

1 SubmittersRCV000032058
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) SNV
Germline		 Chr2:227303867 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236124 rs_759739044

3 SubmittersRCV000171335RCV002485088
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) SNV
Germline		 Chr2:227028004 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
not specified
X-linked Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA236424 rs_2229813

14 SubmittersRCV000171504RCV000271269RCV000246048RCV000987043RCV001262386
NM_033380.3(COL4A5):c.4016-1G>A SNV
Germline		 ChrX:108680884 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA276135 rs_797045035

1 SubmittersRCV000191073
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) SNV
Germline		 Chr2:227051141 Conflicting classifications of pathogenicity Benign familial hematuria
Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA352336 rs_370474706

5 SubmittersRCV000207754RCV001575369RCV001828044
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) SNV
Germline		 Chr2:227059468 Conflicting classifications of pathogenicity Myopia
Hearing impairment
Hypertensive disorder
Proteinuria
Hematuria
Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA067692 rs_569681869

10 SubmittersRCV000626595RCV000665888RCV001328188RCV001782729RCV002247683
NM_033380.3(COL4A5):c.82G>T (p.Ala28Ser) SNV
Germline		 ChrX:108539746 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA351668 rs_869025333

1 SubmittersRCV000207631
NM_033380.3(COL4A5):c.1010G>T (p.Gly337Val) SNV
Germline		 ChrX:108584503 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA351673 rs_869025334

1 SubmittersRCV000207794
NM_033380.3(COL4A5):c.1033-6A>G SNV
Germline		 ChrX:108586609 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA351686 rs_869025330

3 SubmittersRCV000207933RCV001753626
NM_033380.3(COL4A5):c.1780-1G>T SNV
Germline		 ChrX:108598701 Pathogenic X-linked Alport syndrome
Condition: not provided
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA065270 rs_104886338

3 SubmittersRCV000207547RCV001384768RCV003417753
NM_033380.3(COL4A5):c.2395+1G>A SNV
Germline		 ChrX:108606893 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351667 rs_869025331

2 SubmittersRCV000207617RCV001048421
NM_033380.3(COL4A5):c.2741G>A (p.Gly914Asp) SNV
Germline		 ChrX:108621866 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA351683 rs_869025332

1 SubmittersRCV000207888
NM_000091.5(COL4A3):c.998G>C (p.Gly333Ala) SNV
Germline		 Chr2:227257613 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA16044145 rs_1057519376

1 SubmittersRCV000416934
NM_000091.5(COL4A3):c.4382C>T (p.Pro1461Leu) SNV
Germline		 Chr2:227307839 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA2147525 rs_760462252

1 SubmittersRCV000416721
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys) SNV
Germline		 Chr2:227308910 Pathogenic Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16044146 rs_1057519377

2 SubmittersRCV000416827RCV002515584
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu) SNV
Germline		 ChrX:108621848 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10581392 rs_878853089

2 SubmittersRCV000224889RCV002485452
NM_033380.3(COL4A5):c.1339+1G>A SNV
Germline		 ChrX:108591232 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10581432 rs_878853114

2 SubmittersRCV000224182RCV002494614
NM_033380.3(COL4A5):c.1690G>C (p.Gly564Arg) SNV
Germline		 ChrX:108597479 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583987 rs_281874674

2 SubmittersRCV000233994RCV001377341
NM_000092.5(COL4A4):c.4217-15T>C SNV
Germline		 Chr2:227012312 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided
Thrombocytopenia
Hypertensive disorder
Hyperkalemia
Stage 5 chronic kidney disease		 Criteria Provided
Conflicting Classifications
 CA2144233 rs_200926310

8 SubmittersRCV000253035RCV000354468RCV001513577RCV000415134
NM_000092.5(COL4A4):c.4090+14T>C SNV
Germline		 Chr2:227025788 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144319 rs_147376687

3 SubmittersRCV000245138RCV000369138RCV002057303
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) SNV
Germline		 Chr2:227051131 Conflicting classifications of pathogenicity not specified
Condition: not provided
Alport syndrome
Atypical hemolytic-uremic syndrome
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2144654 rs_13027659

10 SubmittersRCV000246929RCV000710843RCV001142711RCV002294114RCV004529418
NM_000092.5(COL4A4):c.2717-5A>T SNV
Germline		 Chr2:227054742 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Focal segmental glomerulosclerosis		 Criteria Provided
Conflicting Classifications
 CA2144732 rs_1800519

12 SubmittersRCV000246589RCV000391251RCV000991620RCV001089933RCV001089910RCV002294112
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) SNV
Germline		 Chr2:227056031 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144755 rs_150979437

13 SubmittersRCV000241593RCV000364192RCV000885126RCV001089932
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) SNV
Germline		 Chr2:227121146 Conflicting classifications of pathogenicity not specified
Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145747 rs_201278620

9 SubmittersRCV000254438RCV000734844RCV001138178
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) SNV
Germline		 Chr2:227293238 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2147167 rs_147085074

13 SubmittersRCV000248366RCV000355980RCV000842905RCV001509575RCV003352814
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) SNV
Germline		 Chr2:227293250 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147171 rs_201989155

6 SubmittersRCV000253135RCV000263485RCV000885027
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) SNV
Germline		 Chr2:227293305 Conflicting classifications of pathogenicity not specified
Condition: not provided
Alport syndrome
Kidney disorder
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2147181 rs_55816283

10 SubmittersRCV000243309RCV000954602RCV001138911RCV002294099RCV003891831
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) SNV
Germline		 Chr2:227310913 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147672 rs_183218622

10 SubmittersRCV000245793RCV000277800RCV000710827
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) SNV
Germline		 Chr2:227253638 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10588923 rs_869025328

6 SubmittersRCV000256383RCV000764364RCV000735673RCV001859498
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) SNV
Germline		 Chr2:227273099 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2146782 rs_761686437

3 SubmittersRCV000256394RCV001029768RCV001859499
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) SNV
Germline		 Chr2:227311838 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2147699 rs_201697532

22 SubmittersRCV000283598RCV000516971RCV000677316RCV001141624RCV001536080RCV003401260RCV004549601
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) SNV
Germline		 ChrX:108655380 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10489089 rs_767087695

4 SubmittersRCV000407157RCV001828269
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) SNV
Germline		 ChrX:108580705 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488593 rs_183837448

3 SubmittersRCV000330068RCV001833415
NM_000092.5(COL4A4):c.4725G>A (p.Ala1575=) SNV
Germline		 Chr2:227008102 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA10612646 rs_886055724

3 SubmittersRCV000287958RCV001473901RCV004530362
NM_000092.5(COL4A4):c.3770C>T (p.Pro1257Leu) SNV
Germline		 Chr2:227031992 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144424 rs_755884665

2 SubmittersRCV000380424RCV002521409
NM_000092.5(COL4A4):c.3577+14C>T SNV
Germline		 Chr2:227033396 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144490 rs_370328730

2 SubmittersRCV000377027RCV003718208
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=) SNV
Germline		 Chr2:227051142 Conflicting classifications of pathogenicity Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2144655 rs_79261248

4 SubmittersRCV000278671RCV001333200RCV000976456RCV004544625
NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu) SNV
Germline		 Chr2:227057468 Conflicting classifications of pathogenicity Alport syndrome
Inborn genetic diseases
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144794 rs_199562472

4 SubmittersRCV000305177RCV002521411RCV002521410RCV002502297
NM_000092.5(COL4A4):c.2399C>G (p.Pro800Arg) SNV
Germline		 Chr2:227057585 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144809 rs_200714000

2 SubmittersRCV000320304RCV001521130
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp) SNV
Germline		 Chr2:227102791 Conflicting classifications of pathogenicity Alport syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145365 rs_200817090

4 SubmittersRCV000274626RCV001195569RCV001850809
NM_000092.5(COL4A4):c.736-10T>G SNV
Germline		 Chr2:227104062 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145444 rs_201175819

4 SubmittersRCV000384200RCV000710859
NM_000092.5(COL4A4):c.193-9C>G SNV
Germline		 Chr2:227121157 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145751 rs_190570269

4 SubmittersRCV000380960RCV000926730
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) SNV
Germline		 Chr2:227263885 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2146592 rs_201031986

6 SubmittersRCV000324429RCV001029875RCV001559268RCV001580484
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) SNV
Germline		 Chr2:227303100 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147392 rs_189574905

6 SubmittersRCV000385231RCV001276573RCV000825741RCV000944934
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) SNV
Germline		 Chr2:227308918 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147561 rs_181952966

5 SubmittersRCV000399705RCV001276578RCV001509570RCV000825742RCV000942296
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) SNV
Germline		 Chr2:227308930 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2147565 rs_200454769

9 SubmittersRCV000299191RCV000920677RCV000614849
NM_000091.5(COL4A3):c.4756-13A>T SNV
Germline		 Chr2:227310763 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147642 rs_190701197

3 SubmittersRCV000298174RCV001513825
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) SNV
Germline		 Chr2:227010414 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Kidney disorder
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2144174 rs_201615111

7 SubmittersRCV000407621RCV001660696RCV002283476RCV002294291RCV002504132
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) SNV
Germline		 Chr2:227077988 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145026 rs_370886041

4 SubmittersRCV000344211RCV000943452
NM_000091.5(COL4A3):c.-13G>C SNV
Germline		 Chr2:227164714 Conflicting classifications of pathogenicity Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA2145881 rs_770803750

2 SubmittersRCV000270943RCV000607819
NM_000091.5(COL4A3):c.688-8G>T SNV
Germline		 Chr2:227253553 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2146318 rs_748843785

5 SubmittersRCV000312906RCV000944959RCV003983021
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) SNV
Germline		 Chr2:227267067 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2146667 rs_200510532

7 SubmittersRCV000259762RCV000519515RCV003236582RCV003418049
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) SNV
Germline		 Chr2:227273117 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146789 rs_778034451

4 SubmittersRCV000348330RCV000681803RCV000761268
NM_000091.5(COL4A3):c.1928-4T>C SNV
Germline		 Chr2:227276381 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2146809 rs_376327706

2 SubmittersRCV000386566RCV000930174
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=) SNV
Germline		 Chr2:227293208 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147159 rs_200125890

2 SubmittersRCV000303559RCV000939249
NM_000091.5(COL4A3):c.3419-8T>G SNV
Germline		 Chr2:227294956 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147245 rs_754483986

2 SubmittersRCV000354698RCV001503706
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) SNV
Germline		 Chr2:227310845 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2147663 rs_756231749

5 SubmittersRCV000369300RCV001276580RCV000657998RCV002469133
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) SNV
Germline		 Chr2:227008149 Conflicting classifications of pathogenicity Alport syndrome
Inborn genetic diseases
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA2144098 rs_200973262

9 SubmittersRCV000342956RCV001265753RCV001330986RCV001029898RCV001770271RCV004567864
NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr) SNV
Germline		 Chr2:227010486 Conflicting classifications of pathogenicity Alport syndrome
not specified
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2144186 rs_72969704

7 SubmittersRCV000299569RCV000825145RCV000899615RCV002521408
NM_000091.5(COL4A3):c.2489-8G>A SNV
Germline		 Chr2:227282357 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Kidney disorder
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146948 rs_201846272

5 SubmittersRCV000347162RCV000882702RCV002294297RCV001274587
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser) SNV
Germline		 Chr2:227290872 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147129 rs_377003650

2 SubmittersRCV000392593RCV002057673
NM_000091.5(COL4A3):c.3566-9T>C SNV
Germline		 Chr2:227297665 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147301 rs_147886850

8 SubmittersRCV000333837RCV000710818
NM_000092.5(COL4A4):c.2586T>C (p.Pro862=) SNV
Germline		 Chr2:227056075 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144767 rs_761238651

2 SubmittersRCV000269691RCV000943842
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) SNV
Germline		 Chr2:227057554 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2144806 rs_769363556

6 SubmittersRCV000265125RCV000889807RCV000825146
NM_000092.5(COL4A4):c.2079C>T (p.Pro693=) SNV
Germline		 Chr2:227060221 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144951 rs_200010601

4 SubmittersRCV000347792RCV000710837
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg) SNV
Germline		 Chr2:227089892 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
not specified
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2145167 rs_202210475

6 SubmittersRCV000354389RCV000935160RCV004017594RCV004530363
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser) SNV
Germline		 Chr2:227114645 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145634 rs_200707549

3 SubmittersRCV000289981RCV000933181
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu) SNV
Germline		 Chr2:227237992 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Inborn genetic diseases
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2145906 rs_201607115

6 SubmittersRCV000380561RCV000907824RCV001274065RCV003168506RCV003957724
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) SNV
Germline		 Chr2:227240219 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145944 rs_373975901

7 SubmittersRCV000374898RCV000735745RCV001243798
NM_000091.5(COL4A3):c.516C>T (p.Asp172=) SNV
Germline		 Chr2:227248490 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146182 rs_759455097

3 SubmittersRCV000350833RCV000976708RCV001274578
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr) SNV
Germline		 Chr2:227269921 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2146697 rs_188967260

3 SubmittersRCV000317299RCV001484290
NM_000091.5(COL4A3):c.2021-9G>C SNV
Germline		 Chr2:227277440 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10614675 rs_773021303

2 SubmittersRCV000289906RCV001437377
NM_000091.5(COL4A3):c.3882+10G>A SNV
Germline		 Chr2:227298822 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147367 rs_78980950

3 SubmittersRCV000275534RCV000894814
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) SNV
Germline		 Chr2:227303094 Conflicting classifications of pathogenicity Alport syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147389 rs_141552752

5 SubmittersRCV000328358RCV000825740RCV000925691
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala) SNV
Germline		 Chr2:227304091 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10614687 rs_886055742

2 SubmittersRCV000379461RCV003236796
NM_000091.5(COL4A3):c.4153+10T>C SNV
Germline		 Chr2:227304154 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10614688 rs_865866667

2 SubmittersRCV000287275RCV001442380
NM_000091.5(COL4A3):c.4253-14T>C SNV
Germline		 Chr2:227307696 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147491 rs_747386514

2 SubmittersRCV000339994RCV002057675
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) SNV
Germline		 Chr2:227308959 Conflicting classifications of pathogenicity Alport syndrome
not specified
Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147571 rs_200512461

10 SubmittersRCV000337893RCV000825316RCV001247514RCV000673190RCV001276579RCV002487488
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) SNV
Germline		 Chr2:227118688 Pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145664 rs_374815903

4 SubmittersRCV000408863RCV001251466RCV001320831RCV001833487
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) SNV
Germline		 Chr2:227277511 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
not specified
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome
Kidney disorder
Benign familial hematuria
Autosomal recessive Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2146849 rs_200287952

15 SubmittersRCV000408794RCV001001294RCV001240936RCV001535934RCV002225103RCV002294326RCV002288979RCV003226288RCV003922661
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) SNV
Germline		 Chr2:227277543 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
not specified		 Criteria Provided
Conflicting Classifications
 CA2146854 rs_201419174

3 SubmittersRCV000408874RCV002480260RCV003488579
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) SNV
Germline		 Chr2:227273108 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Microscopic hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2146786 rs_200672668

6 SubmittersRCV000410611RCV000489873RCV001580284
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) SNV
Germline		 Chr2:227279882 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16040867 rs_375040636

4 SubmittersRCV000411680RCV001850974RCV002502432
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) SNV
Germline		 Chr2:227280587 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16609389 rs_1060499654

8 SubmittersRCV000449569RCV000763472RCV001213210RCV001833572
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val) SNV
Germline		 Chr2:227056112 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144773 rs_758199486

3 SubmittersRCV000449584RCV001764361
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) SNV
Germline		 Chr2:227310902 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147669 rs_773905198

4 SubmittersRCV000449509RCV001375162RCV002063659
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) SNV
Germline		 ChrX:108666550 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA16609464 rs_1060499710

2 SubmittersRCV000449531
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) SNV
Germline		 Chr2:227059617 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144866 rs_200146486

4 SubmittersRCV000483855RCV000625621RCV001274053
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) SNV
Germline		 Chr2:227098695 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145259 rs_778832152

6 SubmittersRCV000766980RCV002475943RCV001835819
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) SNV
Germline		 Chr2:227263804 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350868720 rs_1114167371

2 SubmittersRCV000490752
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) SNV
Germline		 Chr2:227263813 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350868740 rs_1131691738

4 SubmittersRCV000493906RCV001328055RCV002506194
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp) SNV
Germline		 ChrX:108665543 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413847232 rs_1131691795

4 SubmittersRCV000493988RCV000714462
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg) SNV
Germline		 Chr2:227266482 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA350870169 rs_1135401954

2 SubmittersRCV000496506RCV001851366
NM_033380.3(COL4A5):c.687+5G>A SNV
Germline		 ChrX:108578124 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA645372689 rs_1556405930

3 SubmittersRCV000497558RCV000984250
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser) SNV
Germline		 ChrX:108571449 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413920080 rs_1556403112

1 SubmittersRCV000498275
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) SNV
Germline		 Chr2:227055999 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350840920 rs_1363277825

1 SubmittersRCV000505643
NM_000092.5(COL4A4):c.594+1G>A SNV
Germline		 Chr2:227111677 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860171 rs_1553690565

9 SubmittersRCV000505603RCV001857239RCV001535988RCV002289691
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu) SNV
Germline		 Chr2:227303922 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA2147423 rs_748901402

1 SubmittersRCV000505590
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) SNV
Germline		 ChrX:108575910 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA413921871 rs_1556404985

2 SubmittersRCV000505659RCV002527332
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val) SNV
Germline		 ChrX:108581020 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413927039 rs_1556407064

1 SubmittersRCV000505571
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) SNV
Germline		 ChrX:108687641 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413854609 rs_104886282

3 SubmittersRCV000513184RCV001029967
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) SNV
Germline		 Chr2:227311851 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147702 rs_376550779

3 SubmittersRCV000514326RCV000673499
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) SNV
Germline		 Chr2:227008067 Conflicting classifications of pathogenicity not specified
Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2144076 rs_190148408

6 SubmittersRCV000517177RCV001834659RCV002481669RCV002510911RCV004535674
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) SNV
Germline		 Chr2:227008067 Conflicting classifications of pathogenicity not specified
Condition: not provided
Alport syndrome
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2144075 rs_190148408

11 SubmittersRCV000518567RCV000835693RCV001139982RCV004535673
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) SNV
Germline		 Chr2:227032028 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter
 CA350837654 rs_1189502123

3 SubmittersRCV000516720RCV000984249
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) SNV
Germline		 Chr2:227089931 Pathogenic/Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145175 rs_201859109

4 SubmittersRCV000518015RCV002481668RCV000984248
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) SNV
Germline		 Chr2:227098780 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2145272 rs_755649235

5 SubmittersRCV000516503RCV000665733RCV001536127RCV004535672
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) SNV
Germline		 Chr2:227099674 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Nephrotic syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145303 rs_534522842

5 SubmittersRCV000517925RCV001281284RCV001328133RCV002481667
NM_000092.5(COL4A4):c.871-1G>C SNV
Germline		 Chr2:227102849 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145373 rs_375450996

6 SubmittersRCV000516946RCV000667558RCV002496995RCV004545780
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) SNV
Germline		 Chr2:227108846 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145498 rs_368248078

7 SubmittersRCV001089929RCV000518682RCV001141059
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) SNV
Germline		 Chr2:227248494 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA66617434 rs_1014839148

5 SubmittersRCV000517824RCV001805130RCV001837945
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) SNV
Germline		 Chr2:227266473 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2146631 rs_757341933

4 SubmittersRCV000517256RCV000763078
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu) SNV
Germline		 Chr2:227279793 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847422 rs_1553759430

2 SubmittersRCV000516433RCV001281222
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) SNV
Germline		 Chr2:227280970 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA66598974 rs_868002181

8 SubmittersRCV000517367RCV000668107RCV001849395RCV003419893
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) SNV
Germline		 Chr2:227297728 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860023 rs_1553764136

2 SubmittersRCV000518270RCV002496993
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) SNV
Germline		 Chr2:227310839 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147660 rs_764046610

3 SubmittersRCV000517806RCV002496994
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) SNV
Germline		 Chr2:227310845 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147662 rs_756231749

6 SubmittersRCV000518704RCV000668781RCV002468584RCV002490880RCV001834658
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg) SNV
Germline		 ChrX:108573619 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413920951 rs_1556404027

3 SubmittersRCV000516296RCV002506250
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) SNV
Germline		 ChrX:108680694 Conflicting classifications of pathogenicity not specified
Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10489254 rs_754836509

3 SubmittersRCV000516753RCV000952213RCV001391164
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) SNV
Germline		 Chr2:227052367 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Chronic kidney disease
Alport syndrome
Benign familial hematuria
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2144685 rs_35138315

14 SubmittersRCV000522361RCV000763076RCV001171331RCV001277168RCV001542734RCV002279957
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) SNV
Germline		 Chr2:227273076 Conflicting classifications of pathogenicity Condition: not provided
Chronic kidney disease
not specified
Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2146776 rs_139361545

8 SubmittersRCV000727017RCV001171326RCV001195565RCV001274582RCV003960238
NM_000091.5(COL4A3):c.3882+5G>A SNV
Germline		 Chr2:227298817 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA658657247 rs_1553764454

4 SubmittersRCV000520022RCV001089908
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) SNV
Germline		 Chr2:227307878 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome
Hearing impairment
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2147534 rs_200302125

24 SubmittersRCV000521759RCV000735744RCV000710822RCV000987047RCV001276575RCV001375164RCV003925556
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) SNV
Germline		 ChrX:108575937 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413922187 rs_104886060

2 SubmittersRCV000519675RCV002476072
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) SNV
Germline		 ChrX:108575947 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413922299 rs_104886061

3 SubmittersRCV000522738RCV000625582
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) SNV
Germline		 Chr2:227263845 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66631792 rs_371334239

6 SubmittersRCV000589718RCV001046549RCV001272227
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) SNV
Germline		 ChrX:108539753 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 CA10488361 rs_150305490

7 SubmittersRCV000591165RCV001449946RCV003905531
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) SNV
Germline		 Chr2:227308946 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
not specified
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147568 rs_201671013

11 SubmittersRCV000597276RCV000764366RCV000825318RCV000987048RCV001139014
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) SNV
Germline		 Chr2:227307752 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
not specified
Autosomal dominant Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2147500 rs_200509072

7 SubmittersRCV000597767RCV000764365RCV001174854RCV001276574RCV003952993
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) SNV
Germline		 Chr2:227307902 Conflicting classifications of pathogenicity Condition: not provided
not specified
Alport syndrome
Autosomal dominant Alport syndrome
COL4A3-related disorder
Kidney disorder		 Criteria Provided
Conflicting Classifications
 CA2147537 rs_199755408

9 SubmittersRCV000596969RCV000825738RCV001276576RCV001333197RCV003905552RCV002294354
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) SNV
Germline		 Chr2:227022079 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2144260 rs_55978207

5 SubmittersRCV000727472RCV001271497RCV004543387
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) SNV
Germline		 Chr2:227251166 Conflicting classifications of pathogenicity not specified
Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146218 rs_375503109

4 SubmittersRCV000602145RCV000903403RCV001141279
NM_000092.5(COL4A4):c.1353C>T (p.Gly451=) SNV
Germline		 Chr2:227094141 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2145211 rs_199511948

4 SubmittersRCV000910161RCV001138495RCV004530793
NM_000092.5(COL4A4):c.1205-9A>G SNV
Germline		 Chr2:227094298 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2145244 rs_370706928

6 SubmittersRCV000905475RCV001138496RCV004543423
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) SNV
Germline		 Chr2:227007450 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA351140119 rs_1553611876

1 SubmittersRCV000625631
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys) SNV
Germline		 Chr2:227025802 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA350836897 rs_1553622675

1 SubmittersRCV000625562
NM_000092.5(COL4A4):c.2969-1G>C SNV
Germline		 Chr2:227051159 Likely pathogenic Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter
 CA350839305 rs_1553639043

2 SubmittersRCV000625686RCV002483754
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) SNV
Germline		 Chr2:227245990 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
not specified
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2146063 rs_778886174

8 SubmittersRCV000625594RCV000825317RCV001089905RCV001169840RCV001834978RCV001855319RCV004025283
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) SNV
Germline		 Chr2:227273045 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2146772 rs_773515249

7 SubmittersRCV000625624RCV000681773RCV001089917RCV001391170
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp) SNV
Germline		 Chr2:227283794 Likely pathogenic Autosomal dominant Alport syndrome
COL4A3-related disorder		 Criteria Provided
Single Submitter
 CA350851148 rs_1553760558

2 SubmittersRCV000625572RCV003935738
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) SNV
Germline		 Chr2:227290876 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147131 rs_55849096

3 SubmittersRCV000625595RCV001756029
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) SNV
Germline		 ChrX:108578310 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA413924126 rs_1556406001

2 SubmittersRCV000625640RCV001377080
NM_033380.3(COL4A5):c.835-2A>G SNV
Germline		 ChrX:108580680 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA413925978 rs_1556406859

2 SubmittersRCV000625688RCV000995998
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg) SNV
Germline		 ChrX:108591608 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413934641 rs_1556410516

1 SubmittersRCV000625682
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp) SNV
Germline		 ChrX:108620328 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413851389 rs_1556419831

1 SubmittersRCV000625687
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala) SNV
Germline		 ChrX:108620364 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413851503 rs_1556419869

1 SubmittersRCV000625545
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val) SNV
Germline		 ChrX:108620391 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413851610 rs_1556419895

1 SubmittersRCV000625695
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) SNV
Germline		 ChrX:108621811 Pathogenic X-linked Alport syndrome
Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA413851871 rs_1556420349

3 SubmittersRCV000625549RCV001328293RCV001855318
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser) SNV
Germline		 ChrX:108621820 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413851913 rs_1556420358

1 SubmittersRCV000625623
NM_033380.3(COL4A5):c.3314T>A (p.Leu1105Ter) SNV
Germline		 ChrX:108655398 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413857434 rs_1556439394

1 SubmittersRCV000625598
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) SNV
Germline		 Chr2:227010441 Conflicting classifications of pathogenicity Hypertensive disorder
Hematuria
Proteinuria
Myopia
Hearing impairment
Autosomal recessive Alport syndrome
Condition: not provided
Benign familial hematuria
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144179 rs_533297350

9 SubmittersRCV000626596RCV000673767RCV001868162RCV002248830RCV001328187
NM_000092.5(COL4A4):c.4809+1G>A SNV
Unknown		 Chr2:227008017 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553612309

1 SubmittersRCV000669861
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) SNV
Germline		 Chr2:227008228 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_369922627

4 SubmittersRCV000673399RCV000850092RCV002477507RCV002532147
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) SNV
Germline		 Chr2:227051083 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Condition: not provided
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_764323652

5 SubmittersRCV000673247RCV001089914RCV001868269RCV002468598
NM_000092.5(COL4A4):c.2546-1G>C SNV
Germline		 Chr2:227056116 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553641728

2 SubmittersRCV000669870RCV001861783
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) SNV
Germline		 Chr2:227059414 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_768003309

2 SubmittersRCV000672416RCV003558516
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) SNV
Germline		 Chr2:227059546 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_762139460

6 SubmittersRCV000673217RCV001333199RCV001855593
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp) SNV
Unknown		 Chr2:227060216 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553644402

1 SubmittersRCV000673938
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) SNV
Germline		 Chr2:227007350 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1386495377

3 SubmittersRCV000669331RCV001861775
NM_000092.5(COL4A4):c.1696+1G>T SNV
Germline		 Chr2:227082114 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_954701825

3 SubmittersRCV000671388RCV001379395RCV001536111
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) SNV
Germline		 Chr2:227007354 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_766550724

4 SubmittersRCV000668165RCV000735753RCV002493098RCV002530738
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) SNV
Germline		 Chr2:227007369 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_759631057

3 SubmittersRCV000665534RCV002499148RCV002532042
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) SNV
Unknown		 Chr2:227088678 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553669704

1 SubmittersRCV000672440
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) SNV
Germline		 Chr2:227088697 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_779930511

3 SubmittersRCV000670337RCV003558507
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter) SNV
Germline		 Chr2:227089922 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_926605269

3 SubmittersRCV000669401RCV001788315RCV002531228
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter) SNV
Germline		 Chr2:227008204 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_891854419

3 SubmittersRCV000674209RCV001219761RCV002499188
NM_000092.5(COL4A4):c.4333+2T>C SNV
Germline		 Chr2:227012179 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_755927061

3 SubmittersRCV000672931RCV003236831
NM_000091.5(COL4A3):c.325-1G>A SNV
Unknown		 Chr2:227245953 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_762518741

1 SubmittersRCV000665178
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) SNV
Germline		 Chr2:227247559 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_775373641

8 SubmittersRCV000666006RCV001052837RCV001272225RCV000786994RCV003945699
NM_000091.5(COL4A3):c.468+1G>T SNV
Unknown		 Chr2:227247585 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553751122

1 SubmittersRCV000664871
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter) SNV
Unknown		 Chr2:227007495 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553611947

1 SubmittersRCV000669796
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) SNV
Germline		 Chr2:227007581 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_767901025

3 SubmittersRCV000667621RCV002530717
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) SNV
Germline		 Chr2:227263924 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Alport syndrome
Hearing impairment
Condition: not provided
Autosomal dominant Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_534253913

9 SubmittersRCV000665542RCV001136570RCV001375163RCV001362305RCV001280876RCV003155264
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser) SNV
Germline		 Chr2:227263944 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553755124

5 SubmittersRCV000666899RCV001807646RCV001855469RCV002485533
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) SNV
Germline		 Chr2:227266455 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_772958162

5 SubmittersRCV000666502RCV000681919RCV001198699
NM_000091.5(COL4A3):c.2747-1G>C SNV
Germline		 Chr2:227284210 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1196996393

3 SubmittersRCV000671366RCV001855558RCV003225951
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) SNV
Germline		 Chr2:227290008 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1553762113

4 SubmittersRCV000667045RCV001226651
NM_000092.5(COL4A4):c.4021C>A (p.Pro1341Thr) SNV
Germline		 Chr2:227027962 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_539867676

2 SubmittersRCV000670328RCV002532100
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) SNV
Germline		 Chr2:227294999 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_749383170

3 SubmittersRCV000672753RCV003558519
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) SNV
Germline		 Chr2:227080531 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1446915781

2 SubmittersRCV000672904RCV002531326
NM_000092.5(COL4A4):c.1029+2T>C SNV
Unknown		 Chr2:227101502 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553682895

1 SubmittersRCV000673074
NM_000092.5(COL4A4):c.975+1G>C SNV
Unknown		 Chr2:227101864 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553683192

1 SubmittersRCV000666026
NM_000092.5(COL4A4):c.975+1G>A SNV
Germline		 Chr2:227101864 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553683192

5 SubmittersRCV000669774RCV001378999RCV001829860RCV002485550
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) SNV
Germline		 Chr2:227030449 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1489351299

3 SubmittersRCV000673590RCV001855598RCV004026133
NM_000092.5(COL4A4):c.372+2T>G SNV
Unknown		 Chr2:227119893 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553696207

1 SubmittersRCV000670731
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) SNV
Germline		 Chr2:227056071 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_937550597

3 SubmittersRCV000665368RCV001855440RCV002485525
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) SNV
Germline		 Chr2:227240170 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_184730597

7 SubmittersRCV000669200RCV000681942RCV003313970RCV003117473
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) SNV
Germline		 Chr2:227098769 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
not specified
Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_555143841

6 SubmittersRCV000673765RCV000825323RCV001277172RCV002464288RCV002477508
NM_000091.5(COL4A3):c.468+1G>A SNV
Unknown		 Chr2:227247585 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553751122

1 SubmittersRCV000671880
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) SNV
Germline		 Chr2:227118706 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Diffuse mesangial sclerosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1553695389

3 SubmittersRCV000673705RCV002284205RCV003558524
NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val) SNV
Germline		 Chr2:227008154 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_760044982

2 SubmittersRCV000674978RCV003558530
NM_000091.5(COL4A3):c.829-2A>C SNV
Germline		 Chr2:227254654 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553753119

2 SubmittersRCV000668638RCV001868224
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) SNV
Unknown		 Chr2:227256027 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1422638161

1 SubmittersRCV000664514
NM_000092.5(COL4A4):c.328-1G>A SNV
Unknown		 Chr2:227119940 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_754669149

1 SubmittersRCV000670811
NM_000092.5(COL4A4):c.114+1G>C SNV
Unknown		 Chr2:227144515 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553712110

1 SubmittersRCV000670500
NM_000091.5(COL4A3):c.1758+1G>A SNV
Unknown		 Chr2:227270953 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553757096

1 SubmittersRCV000666005
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu) SNV
Germline		 Chr2:227164727 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1396602090

3 SubmittersRCV000670747RCV001382714
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) SNV
Germline		 Chr2:227277493 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553758919

2 SubmittersRCV000664680RCV001855429
NM_000091.5(COL4A3):c.3210+1G>A SNV
Germline		 Chr2:227290887 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553762314

4 SubmittersRCV000670389RCV001213668RCV002499171
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) SNV
Germline		 Chr2:227295017 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_914878176

5 SubmittersRCV000672819RCV001328059RCV001868265RCV001250550
NM_000091.5(COL4A3):c.279+1G>A SNV
Germline		 Chr2:227244365 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_202001097

2 SubmittersRCV000672721RCV002532134
NM_000091.5(COL4A3):c.388-1G>T SNV
Germline		 Chr2:227246684 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553750900

3 SubmittersRCV000668609RCV001060728RCV002493100
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) SNV
Germline		 Chr2:227246688 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1346138010

5 SubmittersRCV000674775RCV001218262RCV000763077RCV001830467
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) SNV
Germline		 Chr2:227298759 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
focal and segmental glomerulosclerosis
COL4A3-related disorder
not specified
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 rs_190598500

18 SubmittersRCV000671820RCV001143340RCV001281229RCV000727653RCV002485556RCV003392513RCV002249398RCV003992367
NM_000091.5(COL4A3):c.3883-2A>G SNV
Germline		 Chr2:227303036 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553765265

2 SubmittersRCV000673097RCV003558521
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) SNV
Germline		 Chr2:227043167 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_749299357

3 SubmittersRCV000666144RCV001855453
NM_000092.5(COL4A4):c.3151-2A>G SNV
Unknown		 Chr2:227050133 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1369097739

1 SubmittersRCV000669564
NM_000091.5(COL4A3):c.4640+1G>A SNV
Germline		 Chr2:227309077 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553766404

2 SubmittersRCV000668666RCV002531204
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys) SNV
Germline		 Chr2:227267043 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_745472969

2 SubmittersRCV000673812RCV003489795
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) SNV
Germline		 Chr2:227051105 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_371172166

4 SubmittersRCV000667417RCV001861756RCV004527726
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) SNV
Germline		 Chr2:227290785 Pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_766900945

5 SubmittersRCV000669678RCV000735743RCV001861779
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) SNV
Germline		 Chr2:227310813 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_752452590

5 SubmittersRCV000665574RCV001251486RCV000821858
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) SNV
Germline		 Chr2:227290824 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553762279

2 SubmittersRCV000667832RCV001855489
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) SNV
Germline		 Chr2:227052395 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_769783985

4 SubmittersRCV000665227RCV001029878RCV000710842
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) SNV
Germline		 Chr2:227054614 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_373540400

4 SubmittersRCV000673027RCV002221573RCV002485559
NM_000092.5(COL4A4):c.2510G>C (p.Gly837Ala) SNV
Germline		 Chr2:227057474 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_201648982

3 SubmittersRCV000669439RCV001855519
NM_000091.5(COL4A3):c.3211-1G>C SNV
Germline		 Chr2:227293190 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553762936

3 SubmittersRCV000674071RCV002532157
NM_000091.5(COL4A3):c.3751+1G>A SNV
Germline		 Chr2:227297860 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_781566652

3 SubmittersRCV000670997RCV001379464RCV001830450
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) SNV
Germline		 Chr2:227308922 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_769863513

4 SubmittersRCV000670558RCV001861795RCV002499174
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) SNV
Unknown		 Chr2:227310892 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1351781261

1 SubmittersRCV000671855
NM_000092.5(COL4A4):c.1696+1G>A SNV
Germline		 Chr2:227082114 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_954701825

3 SubmittersRCV000671787RCV002499179RCV003660826
NM_000092.5(COL4A4):c.1369+1G>A SNV
Germline		 Chr2:227094124 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553676230

3 SubmittersRCV000669220RCV001379470RCV001829854
NM_000092.5(COL4A4):c.1030-2A>C SNV
Germline		 Chr2:227099691 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553681714

4 SubmittersRCV000670823RCV001379767RCV001829867RCV003994075
NM_000092.5(COL4A4):c.657+1G>T SNV
Germline		 Chr2:227109223 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553688696

2 SubmittersRCV000669811RCV001228046
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter) SNV
Germline		 Chr2:227147413 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1201925443

2 SubmittersRCV003669166RCV000670484
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr) SNV
Unknown		 Chr2:227164728 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553725815

1 SubmittersRCV000673067
NM_000091.5(COL4A3):c.645+2T>C SNV
Germline		 Chr2:227251373 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553752199

2 SubmittersRCV000673983RCV003558527
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg) SNV
Germline		 Chr2:227270881 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1553757060

2 SubmittersRCV000674357RCV001389288
NM_000091.5(COL4A3):c.1927+2T>C SNV
Germline		 Chr2:227273119 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1158937060

2 SubmittersRCV000673180RCV002532144
NM_000091.5(COL4A3):c.2223+1G>A SNV
Germline		 Chr2:227279891 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553759476

2 SubmittersRCV000671100RCV001861802
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) SNV
Germline		 Chr2:227308982 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_759873621

5 SubmittersRCV000667489RCV001328056RCV001066963RCV002477488
NM_000091.5(COL4A3):c.4756-1G>A SNV
Unknown		 Chr2:227310775 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1553766735

1 SubmittersRCV000673520
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) SNV
Germline		 Chr2:227254699 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1425230568

3 SubmittersRCV000681788RCV002507181
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) SNV
Germline		 Chr2:227256362 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Single Submitter
 rs_1559872489

2 SubmittersRCV000681798RCV002485577
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) SNV
Germline		 Chr2:227094271 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1026613471

7 SubmittersRCV000681805RCV002512123RCV002499205RCV004535702
NM_000091.5(COL4A3):c.1504+1G>A SNV
Germline		 Chr2:227267089 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1559882199

4 SubmittersRCV000681808RCV003236588
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys) SNV
Germline		 ChrX:108665542 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 rs_1569505374

2 SubmittersRCV000681828RCV002485578
NM_000092.5(COL4A4):c.2545+2T>G SNV
Germline		 Chr2:227057437 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1559515075

3 SubmittersRCV000681834RCV002493131
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) SNV
Germline		 ChrX:108668399 Pathogenic Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569505771

6 SubmittersRCV000681871RCV000714319RCV003420207
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) SNV
Germline		 ChrX:108578079 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886074

3 SubmittersRCV000681889RCV002499206
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) SNV
Germline		 Chr2:227256035 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
not specified
Benign familial hematuria
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_772708743

12 SubmittersRCV000681901RCV000786971RCV001272226RCV001731883RCV002289956RCV003403579
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala) SNV
Germline		 ChrX:108578301 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 rs_1569490592

2 SubmittersRCV000681902RCV002485580
NM_000092.5(COL4A4):c.489+1G>A SNV
Germline		 Chr2:227118644 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1040287646

6 SubmittersRCV000681912RCV001829889RCV002512124RCV002499208RCV004527737
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) SNV
Germline		 ChrX:108573638 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 rs_1569489328

2 SubmittersRCV000681914RCV002499209
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) SNV
Germline		 Chr2:227060208 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1241404192

4 SubmittersRCV000681925RCV001277171
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) SNV
Germline		 Chr2:227257621 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1559873550

4 SubmittersRCV000681935RCV001251195RCV002499210
NM_000092.5(COL4A4):c.1697-1G>A SNV
Germline		 Chr2:227080550 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1559569975

2 SubmittersRCV000710832RCV002507243
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) SNV
Germline		 Chr2:227309212 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_200655479

5 SubmittersRCV000710824RCV001281231RCV001544542RCV001825415
NM_033380.3(COL4A5):c.2332G>C (p.Gly778Arg) SNV
Germline		 ChrX:108606829 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886174

2 SubmittersRCV000714232
NM_033380.3(COL4A5):c.2T>A (p.Met1Lys) SNV
Germline		 ChrX:108440127 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569469409

1 SubmittersRCV002262191
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg) SNV
Germline		 ChrX:108568804 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569488426

2 SubmittersRCV001381886RCV002468603
NM_033380.3(COL4A5):c.698G>T (p.Gly233Val) SNV
Germline		 ChrX:108578301 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569490592

1 SubmittersRCV000714354
NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu) SNV
Germline		 ChrX:108581020 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1556407064

2 SubmittersRCV001958672RCV002051997
NM_033380.3(COL4A5):c.1166-1G>A SNV
Unknown		 ChrX:108591057 Pathogenic Alport syndrome No Assertion Criteria Provided
 rs_1569492951

1 SubmittersRCV001328077
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val) SNV
Germline		 ChrX:108595584 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1569493670

2 SubmittersRCV003389145RCV003553891
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) SNV
Unknown		 ChrX:108598844 Likely pathogenic Alport syndrome No Assertion Criteria Provided
 rs_1569494378

1 SubmittersRCV001328076
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) SNV
Germline		 ChrX:108603032 Conflicting classifications of pathogenicity X-linked Alport syndrome
not specified
Condition: not provided
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 rs_104886164

6 SubmittersRCV000714314RCV000733962RCV000951685RCV003953260
NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu) SNV
Germline		 ChrX:108603054 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_867625069

2 SubmittersRCV000714360RCV001384770
NM_033380.3(COL4A5):c.2396-1G>A SNV
Germline		 ChrX:108614910 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_886041509

1 SubmittersRCV003448718
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser) SNV
Germline		 ChrX:108620426 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569497776

1 SubmittersRCV000714328
NM_033380.3(COL4A5):c.2918-1G>A SNV
Germline		 ChrX:108624235 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886372

1 SubmittersRCV000714397
NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp) SNV
Germline		 ChrX:108625741 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569498896

1 SubmittersRCV002283761
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) SNV
Germline		 ChrX:108668364 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569505758

1 SubmittersRCV002471916
NM_033380.3(COL4A5):c.4529-345A>G SNV
Germline		 ChrX:108692403 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1569508899

3 SubmittersRCV000714336RCV001303446
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe) SNV
Germline		 ChrX:108694911 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1569509257

1 SubmittersRCV000714432
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) SNV
Germline		 Chr2:227080470 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_188655353

4 SubmittersRCV000729021RCV001274057
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) SNV
Germline		 Chr2:227298755 Conflicting classifications of pathogenicity Condition: not provided
not specified
Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_143380907

6 SubmittersRCV000730422RCV000825061RCV001143339RCV001276572
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) SNV
Germline		 Chr2:227007416 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
not specified
Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_374119389

8 SubmittersRCV000735763RCV000825906RCV001137745RCV001540862RCV002477736
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val) SNV
Germline		 Chr2:227032216 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1559455617

1 SubmittersRCV000735722
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp) SNV
Germline		 Chr2:227077974 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1559563141

1 SubmittersRCV000735736
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) SNV
Germline		 Chr2:227078053 Likely pathogenic Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter
 rs_1559563525

2 SubmittersRCV000735781RCV002507317
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) SNV
Germline		 Chr2:227089903 Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1559594442

2 SubmittersRCV000735674RCV003565441
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) SNV
Germline		 Chr2:227089948 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_753659852

3 SubmittersRCV000735741RCV002493370RCV002536543
NM_000092.5(COL4A4):c.1030-1G>C SNV
Germline		 Chr2:227099690 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1559620132

1 SubmittersRCV000735767
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val) SNV
Germline		 Chr2:227101899 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1005389790

1 SubmittersRCV000735782
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) SNV
Germline		 Chr2:227108581 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_923865420

3 SubmittersRCV000735768RCV001315778RCV002249448
NM_000092.5(COL4A4):c.693G>A (p.Lys231=) SNV
Germline		 Chr2:227108833 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1559644463

1 SubmittersRCV000735750
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) SNV
Germline		 Chr2:227109285 Likely pathogenic Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter
 rs_1559646395

2 SubmittersRCV000735719RCV002485951
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) SNV
Germline		 Chr2:227118659 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_760873029

3 SubmittersRCV000735656RCV002499385RCV002536542
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) SNV
Germline		 Chr2:227245972 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_202147112

6 SubmittersRCV000735661RCV001089904RCV001813801RCV003411689
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg) SNV
Germline		 Chr2:227276459 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1559890352

1 SubmittersRCV000735710
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg) SNV
Germline		 Chr2:227280500 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_983885088

1 SubmittersRCV000735783
NM_000091.5(COL4A3):c.3230G>A (p.Gly1077Asp) SNV
Germline		 Chr2:227293210 Pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1559909384

1 SubmittersRCV000735738
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser) SNV
Germline		 ChrX:108577961 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1569490379

1 SubmittersRCV000735739
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val) SNV
Germline		 ChrX:108577980 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_104886066

1 SubmittersRCV000735649
NM_033380.3(COL4A5):c.834+2T>G SNV
Germline		 ChrX:108580588 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1569490932

1 SubmittersRCV000735704
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg) SNV
Germline		 ChrX:108597560 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1569494061

1 SubmittersRCV000735701
NM_033380.3(COL4A5):c.1843G>A (p.Gly615Arg) SNV
Germline		 ChrX:108598765 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1569494304

2 SubmittersRCV000735655RCV001869008
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) SNV
Germline		 ChrX:108620286 Likely pathogenic X-linked Alport syndrome
Rare genetic deafness		 Criteria Provided
Single Submitter
 rs_1569497690

2 SubmittersRCV000735702RCV000825506
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu) SNV
Germline		 ChrX:108624281 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1569498623

1 SubmittersRCV000735703
NM_033380.3(COL4A5):c.3247-1G>A SNV
Germline		 ChrX:108655330 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1569504056

1 SubmittersRCV000735647
NM_033380.3(COL4A5):c.3604+2T>A SNV
Germline		 ChrX:108667185 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1569505613

1 SubmittersRCV000735718
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) SNV
Germline		 Chr2:227273082 Pathogenic/Likely pathogenic Condition: not provided
COL4A3-related disorder
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1315862965

3 SubmittersRCV001869019RCV003396315RCV004547945
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg) SNV
Germline		 ChrX:108577961 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569490379

3 SubmittersRCV001855887RCV001803966
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter) SNV
Germline		 Chr2:227297751 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_368434069

3 SubmittersRCV000760445RCV001199941
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) SNV
Germline		 Chr2:227297790 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1559913871

2 SubmittersRCV000761269RCV002500988
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) SNV
Germline		 Chr2:227310803 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_766208466

3 SubmittersRCV000761225RCV002533862RCV003155307
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg) SNV
Germline		 ChrX:108595565 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569493662

2 SubmittersRCV000761226
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) SNV
Germline		 Chr2:227253637 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Nephrotic syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_573527081

4 SubmittersRCV000770773RCV001328053RCV001731919RCV001855721
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) SNV
Germline		 Chr2:227263848 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1559878862

4 SubmittersRCV002535651RCV003236589RCV002501014RCV004527804
NM_033380.3(COL4A5):c.2509+2T>G SNV
Germline		 ChrX:108615026 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569497030

1 SubmittersRCV000782361
NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg) SNV
Germline		 ChrX:108586729 Pathogenic/Likely pathogenic Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569492161

2 SubmittersRCV000785979RCV001869174
NM_000091.5(COL4A3):c.2981G>A (p.Gly994Asp) SNV
Germline		 Chr2:227289999 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1574803132

1 SubmittersRCV000786779
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser) SNV
Germline		 Chr2:227007540 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1271416659

3 SubmittersRCV000786869RCV003989602
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) SNV
Germline		 Chr2:227104033 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_760795817

3 SubmittersRCV000786980RCV001535833RCV002051893
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) SNV
Germline		 Chr2:227118653 Pathogenic Autosomal dominant Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_755961411

4 SubmittersRCV000786897RCV001873205RCV003447563RCV002493433
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) SNV
Germline		 Chr2:227253598 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1574699806

3 SubmittersRCV000787009RCV001281283
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) SNV
Germline		 Chr2:227270788 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_779575469

4 SubmittersRCV000786944RCV000995727RCV001856210
NM_000091.5(COL4A3):c.3266G>A (p.Gly1089Asp) SNV
Germline		 Chr2:227293246 Pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1574813382

1 SubmittersRCV000786972
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) SNV
Germline		 Chr2:227297683 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Pilarowski-Bjornsson syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1574823172

3 SubmittersRCV000787016RCV001391172RCV004540099
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg) SNV
Germline		 ChrX:108597497 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603290169

1 SubmittersRCV000787005
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) SNV
Germline		 ChrX:108603000 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1603292422

2 SubmittersRCV000786939RCV001377446
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser) SNV
Germline		 ChrX:108620336 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603297305

1 SubmittersRCV000787015
NM_033380.3(COL4A5):c.3319G>T (p.Gly1107Ter) SNV
Germline		 ChrX:108655403 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_104886225

1 SubmittersRCV000787025
NM_033380.3(COL4A5):c.3475C>T (p.Gln1159Ter) SNV
Germline		 ChrX:108666516 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603310370

1 SubmittersRCV000786956
NM_033380.3(COL4A5):c.3481G>C (p.Gly1161Arg) SNV
Germline		 ChrX:108666522 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_104886235

1 SubmittersRCV000786979
NM_033380.3(COL4A5):c.3482G>A (p.Gly1161Glu) SNV
Germline		 ChrX:108666523 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1603310380

2 SubmittersRCV000787006RCV002536887
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) SNV
Unknown		 Chr2:227293237 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Single Submitter
 rs_1574813350

1 SubmittersRCV000790472RCV000853582
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) SNV
Unknown		 ChrX:108694904 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886424

2 SubmittersRCV000791325
NM_033380.3(COL4A5):c.438+1G>A SNV
Unknown		 ChrX:108571467 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603279819

1 SubmittersRCV000824981
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) SNV
Germline		 Chr2:227027988 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_200860702

4 SubmittersRCV000825149RCV001271498RCV001840737
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) SNV
Germline		 Chr2:227060156 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_76636743

7 SubmittersRCV000991618RCV001140966
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) SNV
Germline		 Chr2:227082181 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_745815071

4 SubmittersRCV000825321RCV001138069RCV002536046
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) SNV
Germline		 Chr2:227295021 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_145948549

5 SubmittersRCV000825665RCV001274591RCV000912182RCV001141509RCV003965608
NM_000091.5(COL4A3):c.-26G>T SNV
Germline		 Chr2:227164701 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_747049729

2 SubmittersRCV000827311RCV001143022
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg) SNV
Germline		 Chr2:227238016 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Inborn genetic diseases
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_200866082

5 SubmittersRCV000844339RCV001274066RCV002538340RCV003918312
NM_000092.5(COL4A4):c.-101-4A>G SNV
Germline		 Chr2:227147588 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_147186690

4 SubmittersRCV000843315RCV001138610RCV001838244
NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter) SNV
Germline		 Chr2:227240203 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1574658390

1 SubmittersRCV000844888
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter) SNV
Germline		 Chr2:227051026 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1576129421

1 SubmittersRCV000853057
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala) SNV
Germline		 ChrX:108606875 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603293624

1 SubmittersRCV000853069
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) SNV
Germline		 Chr2:227022112 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Kidney disorder
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_75398993

8 SubmittersRCV000958596RCV001137846RCV002294424RCV004533697
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) SNV
Germline		 ChrX:108571815 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_773404950

3 SubmittersRCV000945860RCV001832190
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) SNV
Germline		 ChrX:108655335 Conflicting classifications of pathogenicity Condition: not provided
Hearing impairment
X-linked Alport syndrome
Inborn genetic diseases
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 rs_146873772

5 SubmittersRCV000945652RCV001375302RCV001832189RCV002545992RCV003933234
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) SNV
Germline		 ChrX:108665536 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_747614562

5 SubmittersRCV000964775RCV001089923
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) SNV
Germline		 Chr2:227008048 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_751561029

3 SubmittersRCV000885300RCV001139981
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) SNV
Germline		 Chr2:227304050 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_374672854

2 SubmittersRCV000893186RCV001136777
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) SNV
Germline		 Chr2:227027994 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_201578201

6 SubmittersRCV000896120RCV001140097RCV001195314
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) SNV
Germline		 Chr2:227032200 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_369708146

3 SubmittersRCV000902096RCV001140860
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) SNV
Germline		 Chr2:227051019 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_201962241

8 SubmittersRCV000909124RCV001142710RCV001288036
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) SNV
Germline		 Chr2:227051109 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_531161419

5 SubmittersRCV000900474RCV001830963RCV002502655RCV004028504
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) SNV
Germline		 Chr2:227114679 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_545808060

5 SubmittersRCV000900475RCV001142916RCV004541884
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) SNV
Germline		 Chr2:227272980 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Inborn genetic diseases
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_781163705

7 SubmittersRCV000904280RCV001274581RCV001253067RCV004028543RCV003958192
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) SNV
Germline		 ChrX:108681789 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_147447379

3 SubmittersRCV000909306RCV002495494RCV002542104
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) SNV
Germline		 Chr2:227102790 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_373741172

4 SubmittersRCV000923092RCV001274061
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) SNV
Germline		 Chr2:227273053 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_771390525

4 SubmittersRCV000918655RCV001141394RCV001449655
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) SNV
Germline		 Chr2:227007451 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_918428666

2 SubmittersRCV001137747RCV000944942
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) SNV
Germline		 Chr2:227147476 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_201403066

4 SubmittersRCV000928067RCV001274064
NM_000091.5(COL4A3):c.3210+8G>A SNV
Germline		 Chr2:227290894 Conflicting classifications of pathogenicity Condition: not provided
Kidney disorder
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_545181831

3 SubmittersRCV000943106RCV002294418RCV001827006
NM_000091.5(COL4A3):c.3751+7G>A SNV
Germline		 Chr2:227297866 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_750554079

4 SubmittersRCV000930521RCV001141513RCV003978084
NM_033380.3(COL4A5):c.2768-10T>C SNV
Germline		 ChrX:108622666 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_370284884

3 SubmittersRCV000946202RCV001827039
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) SNV
Germline		 Chr2:227062579 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_754769010

2 SubmittersRCV000976386RCV001142813
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) SNV
Germline		 Chr2:227080527 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_533957132

3 SubmittersRCV000976412RCV001138067
NM_000091.5(COL4A3):c.468+9T>C SNV
Germline		 Chr2:227247593 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_754471166

4 SubmittersRCV000983069RCV001138703RCV003897995
NM_000091.5(COL4A3):c.87+7G>T SNV
Germline		 Chr2:227164820 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_1358691399

2 SubmittersRCV000975346RCV001143026
NM_033380.3(COL4A5):c.321+2T>G SNV
Unknown		 ChrX:108568675 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603279005

1 SubmittersRCV000990924
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys) SNV
Unknown		 ChrX:108571440 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_767619131

1 SubmittersRCV000990925
NM_033380.3(COL4A5):c.1588-10C>G SNV
Germline		 ChrX:108597367 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1603290097

3 SubmittersRCV000990926RCV002549753
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys) SNV
Unknown		 ChrX:108601449 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874684

1 SubmittersRCV000990927
NM_033380.3(COL4A5):c.2395+2T>A SNV
Unknown		 ChrX:108606894 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603293639

1 SubmittersRCV000990928
NM_033380.3(COL4A5):c.4822-1G>T SNV
Unknown		 ChrX:108695266 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603328372

1 SubmittersRCV000990930
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) SNV
Germline		 ChrX:108626300 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886221

3 SubmittersRCV000991631RCV002488085
NM_000091.5(COL4A3):c.2489-1G>A SNV
Germline		 Chr2:227282364 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1574782406

2 SubmittersRCV000991613RCV001089907
NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter) SNV
Germline		 ChrX:108687607 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603323278

1 SubmittersRCV000993763
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) SNV
Germline		 Chr2:227280498 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_747356302

5 SubmittersRCV000997690RCV001143241RCV001559320RCV001559319RCV002550713
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) SNV
Germline		 Chr2:227164754 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1453590085

2 SubmittersRCV000995722RCV001238070
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) SNV
Germline		 Chr2:227245980 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_750308686

2 SubmittersRCV000995723RCV001221432
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) SNV
Germline		 Chr2:227263812 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1574727988

2 SubmittersRCV000995725RCV001238723
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) SNV
Germline		 Chr2:227263917 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1574728278

1 SubmittersRCV000995726
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) SNV
Germline		 Chr2:227273021 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1574753929

4 SubmittersRCV000995728RCV001029935RCV001858820
NM_000091.5(COL4A3):c.2746+1G>T SNV
Germline		 Chr2:227283857 Pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1574786225

2 SubmittersRCV000995513RCV003483750
NM_000091.5(COL4A3):c.2747-1G>T SNV
Germline		 Chr2:227284210 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1196996393

1 SubmittersRCV000995514
NM_033380.3(COL4A5):c.645+1G>T SNV
Germline		 ChrX:108577988 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603282474

1 SubmittersRCV000995519
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg) SNV
Germline		 ChrX:108582920 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886088

1 SubmittersRCV000995729
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter) SNV
Germline		 ChrX:108591623 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603287820

1 SubmittersRCV000995730
NM_033380.3(COL4A5):c.1424-2A>C SNV
Germline		 ChrX:108595507 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_759179999

1 SubmittersRCV000995731
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp) SNV
Germline		 ChrX:108597462 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603290148

2 SubmittersRCV000995732RCV002550683
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser) SNV
Germline		 ChrX:108598729 Pathogenic X-linked Alport syndrome
Alport syndrome		 Criteria Provided
Single Submitter
 rs_1603290681

2 SubmittersRCV000995734RCV001328300
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val) SNV
Germline		 ChrX:108598826 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874683

1 SubmittersRCV000995735
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser) SNV
Germline		 ChrX:108606811 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603293570

2 SubmittersRCV000995739
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg) SNV
Germline		 ChrX:108606856 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603293605

1 SubmittersRCV000995740
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) SNV
Germline		 ChrX:108606875 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603293624

1 SubmittersRCV000995741
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) SNV
Germline		 ChrX:108614980 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1291655627

1 SubmittersRCV000995742
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val) SNV
Germline		 ChrX:108620355 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603297334

1 SubmittersRCV000995520
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) SNV
Germline		 ChrX:108626300 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886221

3 SubmittersRCV000995521RCV001288041
NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser) SNV
Germline		 ChrX:108668486 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603311030

1 SubmittersRCV000995522
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter) SNV
Germline		 ChrX:108687636 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603323355

1 SubmittersRCV000995523
NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu) SNV
Germline		 ChrX:108580722 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886078

1 SubmittersRCV001001195
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) SNV
Unknown		 Chr2:227253330 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1574698507

1 SubmittersRCV001002784
NM_033380.3(COL4A5):c.4316-1G>T SNV
Germline		 ChrX:108687481 Pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_281874734

2 SubmittersRCV001002780
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) SNV
Germline		 Chr2:227109286 Pathogenic Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_750345987

2 SubmittersRCV001003412RCV001042357
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) SNV
Germline		 Chr2:227277449 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1574767962

1 SubmittersRCV001004075
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) SNV
Germline		 Chr2:227297752 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_200443942

7 SubmittersRCV001007587RCV001141512RCV001248769RCV001702764
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) SNV
Germline		 Chr2:227010313 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Meniere disease		 Criteria Provided
Single Submitter
 rs_1003748020

3 SubmittersRCV001862424RCV001029868RCV004570083
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) SNV
Germline		 Chr2:227108593 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201673987

3 SubmittersRCV001029982RCV002505555RCV002552034
NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) SNV
Germline		 Chr2:227238022 Pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1207493576

1 SubmittersRCV001029783
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) SNV
Germline		 Chr2:227248488 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_377575924

3 SubmittersRCV002479225RCV001029786RCV002552021
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) SNV
Germline		 Chr2:227263890 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1363441287

1 SubmittersRCV001029865
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) SNV
Germline		 Chr2:227263939 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_148686474

3 SubmittersRCV001029869RCV001452926
NM_000091.5(COL4A3):c.1505-2A>C SNV
Germline		 Chr2:227269908 Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1247804051

2 SubmittersRCV001029784RCV002552020
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) SNV
Germline		 Chr2:227269964 Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided
X-linked agammaglobulinemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1574745989

3 SubmittersRCV001029977RCV001862430RCV004526064
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) SNV
Germline		 Chr2:227282460 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1574782666

1 SubmittersRCV001029940
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) SNV
Germline		 Chr2:227282488 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1402894646

1 SubmittersRCV001029938
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu) SNV
Germline		 Chr2:227284342 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_746766677

1 SubmittersRCV001029989
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) SNV
Germline		 Chr2:227290858 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_202078295

5 SubmittersRCV001029944RCV001138909RCV001664628
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg) SNV
Germline		 Chr2:227295307 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_1305836268

1 SubmittersRCV001029838
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) SNV
Germline		 Chr2:227310846 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_1380878336

3 SubmittersRCV001029796
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) SNV
Germline		 ChrX:108580551 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603283567

1 SubmittersRCV001029792
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg) SNV
Germline		 ChrX:108586711 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603286154

1 SubmittersRCV001029966
NM_033380.3(COL4A5):c.1933C>T (p.Gln645Ter) SNV
Germline		 ChrX:108598855 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603290796

3 SubmittersRCV001029913RCV001862428
NM_033380.3(COL4A5):c.2510-1G>T SNV
Germline		 ChrX:108620258 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_770451831

1 SubmittersRCV001029903
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu) SNV
Germline		 ChrX:108624245 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603298378

1 SubmittersRCV001029936
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys) SNV
Germline		 ChrX:108625740 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603298869

1 SubmittersRCV001029888
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu) SNV
Germline		 ChrX:108626255 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1603298993

1 SubmittersRCV001029871
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) SNV
Germline		 ChrX:108655377 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603306716

3 SubmittersRCV001029858RCV002552025
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) SNV
Germline		 ChrX:108694809 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886287

2 SubmittersRCV001030011
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) SNV
Germline		 Chr2:227056091 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_533602128

3 SubmittersRCV001034409RCV001274050
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) SNV
Germline		 Chr2:227099664 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Inborn genetic diseases
Meniere disease		 Criteria Provided
Conflicting Classifications
 rs_371717486

5 SubmittersRCV001040564RCV001274060RCV002551476RCV004570128
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) SNV
Germline		 Chr2:227270863 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1457269547

3 SubmittersRCV001536113RCV003336281RCV001039861
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) SNV
Germline		 Chr2:227304036 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Benign familial hematuria
Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_2073401281

4 SubmittersRCV001089919RCV001069634RCV001281230RCV001833664
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu) SNV
Germline		 ChrX:108665570 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2068061224

2 SubmittersRCV001050800RCV001089924
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter) SNV
Germline		 ChrX:108695407 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2068718016

3 SubmittersRCV001066756RCV001391142
NM_033380.3(COL4A5):c.2917+1G>A SNV
Not applicable		 ChrX:108622826 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_104886371

1 SubmittersRCV001078190
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) SNV
Germline		 Chr2:227032273 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_554736387

4 SubmittersRCV001089935RCV001405130
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu) SNV
Germline		 Chr2:227103178 Likely pathogenic Benign familial hematuria
Autosomal dominant Alport syndrome		 Criteria Provided
Single Submitter
 rs_2060622881

1 SubmittersRCV001089911
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) SNV
Germline		 Chr2:227104033 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_760795817

3 SubmittersRCV001089930RCV002468621
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val) SNV
Germline		 Chr2:227279874 Conflicting classifications of pathogenicity Benign familial hematuria
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_773317939

2 SubmittersRCV001089918RCV001862664
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) SNV
Germline		 Chr2:227305066 Pathogenic Benign familial hematuria
Autosomal dominant Alport syndrome		 Criteria Provided
Single Submitter
 rs_2073446714

1 SubmittersRCV001089920
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser) SNV
Germline		 ChrX:108580712 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066231013

1 SubmittersRCV001089903
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) SNV
Germline		 ChrX:108586702 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2066342176

5 SubmittersRCV001089921RCV001862665
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val) SNV
Germline		 ChrX:108598721 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569494281

1 SubmittersRCV001089922
NM_033380.3(COL4A5):c.3473G>A (p.Gly1158Glu) SNV
Germline		 ChrX:108666514 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2068082287

1 SubmittersRCV001089925
NM_033380.3(COL4A5):c.3623G>A (p.Gly1208Glu) SNV
Germline		 ChrX:108668337 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2068126851

1 SubmittersRCV001089926
NM_000092.5(COL4A4):c.*4194C>T SNV
Germline		 Chr2:227003131 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_540904446

2 SubmittersRCV001139653RCV003433026
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) SNV
Germline		 Chr2:227007453 Conflicting classifications of pathogenicity Alport syndrome
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_192411379

5 SubmittersRCV001139979RCV001559323RCV002497551RCV002556977
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) SNV
Germline		 Chr2:227007474 Conflicting classifications of pathogenicity Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_200450557

5 SubmittersRCV001139980RCV001332184RCV002260686RCV002497552
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys) SNV
Germline		 Chr2:227012223 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_536570392

2 SubmittersRCV001142603RCV002557035
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val) SNV
Germline		 Chr2:227032232 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_780290586

2 SubmittersRCV001140861RCV001414527
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=) SNV
Germline		 Chr2:227033474 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_762812157

2 SubmittersRCV001140862RCV001461014
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) SNV
Germline		 Chr2:227057592 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_760803228

2 SubmittersRCV001138385RCV003442211
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) SNV
Germline		 Chr2:227082147 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_371066387

5 SubmittersRCV001138068RCV001593288RCV002491414
NM_000092.5(COL4A4):c.645G>A (p.Glu215=) SNV
Germline		 Chr2:227109236 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2061038127

2 SubmittersRCV001142914RCV002070717
NM_000092.5(COL4A4):c.354A>G (p.Pro118=) SNV
Germline		 Chr2:227119913 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1432438341

2 SubmittersRCV001142917RCV001481479
NM_000092.5(COL4A4):c.15C>T (p.His5=) SNV
Germline		 Chr2:227147469 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_199504524

3 SubmittersRCV001138182RCV001488954
NM_000091.5(COL4A3):c.-10C>T SNV
Germline		 Chr2:227164717 Conflicting classifications of pathogenicity Alport syndrome
COL4A3-related disorder
not specified
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_781380101

4 SubmittersRCV001143023RCV003938498RCV003490085RCV003991040
NM_000091.5(COL4A3):c.36C>T (p.Leu12=) SNV
Germline		 Chr2:227164762 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1189095338

2 SubmittersRCV001143024RCV001485821
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) SNV
Germline		 Chr2:227248487 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
not specified
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_199514043

5 SubmittersRCV001138704RCV001843564RCV003155361RCV002482264
NM_000091.5(COL4A3):c.717A>G (p.Gly239=) SNV
Germline		 Chr2:227253590 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_377503376

2 SubmittersRCV001141282RCV001423073
NM_000091.5(COL4A3):c.870T>C (p.Pro290=) SNV
Germline		 Chr2:227254697 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_373130348

3 SubmittersRCV001143134RCV002070721
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu) SNV
Germline		 Chr2:227270831 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_772037798

3 SubmittersRCV001141391RCV001724254RCV002070696
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) SNV
Germline		 Chr2:227272992 Conflicting classifications of pathogenicity Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_369567469

3 SubmittersRCV001141392RCV002505714RCV002559370
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe) SNV
Germline		 Chr2:227280993 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_192027050

4 SubmittersRCV001143242RCV001517137
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr) SNV
Germline		 Chr2:227289155 Conflicting classifications of pathogenicity Alport syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_200801946

4 SubmittersRCV001136673RCV002556904RCV001415780
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=) SNV
Germline		 Chr2:227289187 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_758181560

2 SubmittersRCV001136674RCV003574839
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=) SNV
Germline		 Chr2:227309240 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_764663555

2 SubmittersRCV001139016RCV001428265
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile) SNV
Germline		 Chr2:227309241 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_574102153

3 SubmittersRCV001139017RCV001430168
NM_000092.5(COL4A4):c.4216+11C>T SNV
Germline		 Chr2:227022037 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_117468095

2 SubmittersRCV001142605RCV002070709
NM_000092.5(COL4A4):c.4081+9C>G SNV
Germline		 Chr2:227027893 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201688381

3 SubmittersRCV001137847RCV001506793
NM_000092.5(COL4A4):c.3706+13A>G SNV
Germline		 Chr2:227032135 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_754923656

2 SubmittersRCV001140100RCV003558704
NM_000092.5(COL4A4):c.3150+14G>T SNV
Germline		 Chr2:227050963 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201486440

2 SubmittersRCV001142709RCV003718361
NM_000092.5(COL4A4):c.2860+13C>T SNV
Germline		 Chr2:227054581 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_374807397

2 SubmittersRCV001137966RCV003736997
NM_000092.5(COL4A4):c.1369+15A>C SNV
Germline		 Chr2:227094110 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1216718864

2 SubmittersRCV001138494RCV002556954
NM_000091.5(COL4A3):c.388-15T>C SNV
Germline		 Chr2:227246670 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_762513527

3 SubmittersRCV001138283RCV002558310RCV002491415
NM_000091.5(COL4A3):c.610-11G>A SNV
Germline		 Chr2:227251325 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_566045388

2 SubmittersRCV001141280RCV002070693
NM_000091.5(COL4A3):c.828+9T>C SNV
Germline		 Chr2:227254183 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2069991819

2 SubmittersRCV001143131RCV001404373
NM_000091.5(COL4A3):c.829-15C>T SNV
Germline		 Chr2:227254641 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201021733

2 SubmittersRCV001143132RCV001468066
NM_000091.5(COL4A3):c.1505-12G>A SNV
Germline		 Chr2:227269898 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_114658110

2 SubmittersRCV001138811RCV002070633
NM_000091.5(COL4A3):c.1576-6C>T SNV
Germline		 Chr2:227270764 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_202210023

3 SubmittersRCV001141390RCV001423436
NM_000091.5(COL4A3):c.2125+13T>C SNV
Germline		 Chr2:227277566 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_777353565

2 SubmittersRCV001143240RCV003727903
NM_000091.5(COL4A3):c.2656+12T>A SNV
Germline		 Chr2:227282544 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_748254625

2 SubmittersRCV001136671RCV003558701
NM_000091.5(COL4A3):c.4027+11G>T SNV
Germline		 Chr2:227303941 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_191002419

2 SubmittersRCV001143342RCV003558712
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) SNV
Germline		 Chr2:227042165 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1559480099

3 SubmittersRCV001195695RCV001337907
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) SNV
Germline		 Chr2:227094248 Conflicting classifications of pathogenicity Glomerulonephritis
Autosomal recessive Alport syndrome
Benign familial hematuria
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_372841765

4 SubmittersRCV001195694RCV002484066RCV002559242RCV002559243
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr) SNV
Germline		 Chr2:227248468 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_144036466

3 SubmittersRCV001195691RCV001458763
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val) SNV
Germline		 ChrX:108578292 Pathogenic/Likely pathogenic Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_281874763

2 SubmittersRCV001195700RCV001863094
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu) SNV
Germline		 ChrX:108591187 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter
 rs_2066428351

1 SubmittersRCV001195699
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg) SNV
Germline		 ChrX:108614979 Pathogenic/Likely pathogenic Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886184

2 SubmittersRCV001195697RCV003558751
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg) SNV
Unknown		 Chr2:227254665 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_2070035662

1 SubmittersRCV001197525
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val) SNV
Unknown		 ChrX:108568639 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066011284

1 SubmittersRCV001196163
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val) SNV
Germline		 ChrX:108601959 Conflicting classifications of pathogenicity X-linked Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1369565068

2 SubmittersRCV001199206RCV003163503
NM_033380.3(COL4A5):c.1033-1G>A SNV
Unknown		 ChrX:108586614 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066339336

1 SubmittersRCV001198902
NM_000091.5(COL4A3):c.388-2A>G SNV
Germline		 Chr2:227246683 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2069361375

3 SubmittersRCV001199933RCV003117842RCV002497681
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) SNV
Germline		 Chr2:227267034 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_777401300

6 SubmittersRCV001200643RCV002491600RCV002282478RCV003336330
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter) SNV
Germline		 Chr2:227089925 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2059821994

2 SubmittersRCV001219538RCV001264178
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) SNV
Germline		 Chr2:227290810 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2072649241

2 SubmittersRCV001208756RCV002497715
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg) SNV
Germline		 Chr2:227269945 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 rs_2071142257

2 SubmittersRCV001238354RCV001828901
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala) SNV
Germline		 ChrX:108568666 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569488381

2 SubmittersRCV001232695RCV003398990
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) SNV
Germline		 Chr2:227030483 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome type 2
Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1433065763

5 SubmittersRCV001241289RCV001250157RCV001835097RCV002499402
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) SNV
Germline		 Chr2:227056044 Pathogenic Condition: not provided
Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_929684384

3 SubmittersRCV001245688RCV001829964RCV001251470
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) SNV
Germline		 Chr2:227119929 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_766085522

3 SubmittersRCV001245812RCV001829969RCV002568634
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) SNV
Germline		 ChrX:108620382 Pathogenic Condition: not provided
Alport syndrome
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886199

3 SubmittersRCV001244092RCV001328075RCV002491816
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp) SNV
Germline		 ChrX:108601411 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066625376

1 SubmittersRCV001271107
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter) SNV
Germline		 Chr2:227010409 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1963402519

1 SubmittersRCV001281126
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg) SNV
Germline		 Chr2:227010484 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1963420059

1 SubmittersRCV001281125
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys) SNV
Germline		 Chr2:227032166 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_781360383

1 SubmittersRCV001281123
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg) SNV
Germline		 Chr2:227032235 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1968585119

1 SubmittersRCV001281122
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg) SNV
Germline		 Chr2:227033428 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1968850188

1 SubmittersRCV001281121
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg) SNV
Germline		 Chr2:227050077 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1973758214

1 SubmittersRCV001281291
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) SNV
Germline		 Chr2:227052365 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_372413045

1 SubmittersRCV001281290
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val) SNV
Germline		 Chr2:227077929 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2059121113

1 SubmittersRCV001281288
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys) SNV
Germline		 Chr2:227094170 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2060086619

1 SubmittersRCV001281286
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala) SNV
Germline		 Chr2:227108585 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2060993539

1 SubmittersRCV001281131
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp) SNV
Germline		 Chr2:227114695 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2061397001

1 SubmittersRCV001281128
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) SNV
Germline		 Chr2:227121148 Likely pathogenic Benign familial hematuria
Benign familial hematuria
Autosomal recessive Alport syndrome
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_776036994

3 SubmittersRCV001281287RCV002480863RCV004538531
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys) SNV
Germline		 Chr2:227251140 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2069716520

1 SubmittersRCV001281282
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser) SNV
Germline		 Chr2:227277502 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_761780956

1 SubmittersRCV001281221
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala) SNV
Germline		 Chr2:227279820 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_267599232

1 SubmittersRCV001281223
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg) SNV
Germline		 Chr2:227280491 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2071886531

2 SubmittersRCV001281224RCV001301864
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu) SNV
Germline		 Chr2:227280908 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_1283533086

1 SubmittersRCV001281225
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) SNV
Germline		 Chr2:227309295 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2073646176

2 SubmittersRCV001281280RCV003331093
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val) SNV
Germline		 Chr2:227311853 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_759583948

3 SubmittersRCV001281281RCV001316984RCV001836251
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp) SNV
Germline		 ChrX:108582930 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066274585

1 SubmittersRCV001281239
NM_033380.3(COL4A5):c.1234G>C (p.Gly412Arg) SNV
Germline		 ChrX:108591126 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066425897

1 SubmittersRCV001281133
NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter) SNV
Germline		 ChrX:108597557 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_368137679

1 SubmittersRCV001281175
NM_033380.3(COL4A5):c.1826G>C (p.Gly609Ala) SNV
Germline		 ChrX:108598748 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886140

1 SubmittersRCV001281176
NM_033380.3(COL4A5):c.2668G>A (p.Gly890Arg) SNV
Germline		 ChrX:108620417 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067018186

1 SubmittersRCV001281179
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg) SNV
Germline		 ChrX:108655457 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067822565

1 SubmittersRCV001281181
NM_033380.3(COL4A5):c.3511C>T (p.Gln1171Ter) SNV
Germline		 ChrX:108666552 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2068084185

2 SubmittersRCV001281182RCV001380690
NM_000092.5(COL4A4):c.4334-23A>G SNV
Germline		 Chr2:227010524 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_766501515

2 SubmittersRCV001281124RCV001879803
NM_000092.5(COL4A4):c.735+2T>C SNV
Germline		 Chr2:227108579 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2060993180

3 SubmittersRCV001281132RCV001290438
NM_000092.5(COL4A4):c.559-2A>C SNV
Germline		 Chr2:227111715 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_766243664

1 SubmittersRCV001281130
NM_000092.5(COL4A4):c.558+1G>A SNV
Germline		 Chr2:227114627 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2061393783

1 SubmittersRCV001281129
NM_033380.3(COL4A5):c.141+1G>A SNV
Germline		 ChrX:108539806 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2065509989

1 SubmittersRCV001281134
NM_033380.3(COL4A5):c.232-2A>G SNV
Germline		 ChrX:108563880 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2065933012

1 SubmittersRCV001281178
NM_033380.3(COL4A5):c.465+1G>A SNV
Germline		 ChrX:108571838 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2066070056

3 SubmittersRCV001281233RCV001879806
NM_033380.3(COL4A5):c.465+2T>G SNV
Germline		 ChrX:108571839 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066070104

1 SubmittersRCV001281234
NM_033380.3(COL4A5):c.546+2T>G SNV
Germline		 ChrX:108573656 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2066101487

2 SubmittersRCV001281236RCV003574863
NM_033380.3(COL4A5):c.4316-20T>A SNV
Germline		 ChrX:108687462 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2068567564

2 SubmittersRCV001281232
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) SNV
Germline		 Chr2:227059476 Conflicting classifications of pathogenicity Benign familial hematuria
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_781660254

4 SubmittersRCV001251502RCV001536098RCV001879826
NM_033380.3(COL4A5):c.295G>A (p.Gly99Arg) SNV
Germline		 ChrX:108568647 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2066011417

2 SubmittersRCV001251465RCV003660873
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter) SNV
Unknown		 ChrX:108578091 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066183255

1 SubmittersRCV001251494
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser) SNV
Unknown		 ChrX:108591117 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066425550

1 SubmittersRCV001251478
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp) SNV
Unknown		 ChrX:108606830 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066736770

1 SubmittersRCV001251480
NM_033380.3(COL4A5):c.2473G>A (p.Gly825Arg) SNV
Germline		 ChrX:108614988 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_281874692

2 SubmittersRCV001251459RCV003660872
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val) SNV
Germline		 ChrX:108668418 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2068130178

2 SubmittersRCV001252965RCV002508300
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter) SNV
Germline		 ChrX:108695383 Pathogenic Alport syndrome Criteria Provided
Single Submitter
 rs_2068717619

1 SubmittersRCV002272433
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys) SNV
Germline		 ChrX:108666534 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided
Rare disease with thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 rs_771538814

4 SubmittersRCV001253065RCV001550519RCV003448914
NM_000091.5(COL4A3):c.2126-1G>C SNV
Germline		 Chr2:227279792 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2071831565

1 SubmittersRCV001254145
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) SNV
Germline		 Chr2:227060139 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_200759521

4 SubmittersRCV001262385RCV001586098RCV001830063
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter) SNV
Unknown		 Chr2:227012190 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1963884904

1 SubmittersRCV001263887
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter) SNV
Unknown		 Chr2:227030483 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1433065763

1 SubmittersRCV001263888
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter) SNV
Unknown		 Chr2:227033422 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1968848668

1 SubmittersRCV001263889
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter) SNV
Unknown		 Chr2:227042196 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1971610561

1 SubmittersRCV001264049
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter) SNV
Germline		 Chr2:227043127 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1971792460

2 SubmittersRCV001264050RCV002537665
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter) SNV
Unknown		 Chr2:227047505 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1973132502

1 SubmittersRCV001264051
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter) SNV
Unknown		 Chr2:227047544 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1973140216

1 SubmittersRCV001264052
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter) SNV
Unknown		 Chr2:227051063 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1973992894

1 SubmittersRCV001264053
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter) SNV
Unknown		 Chr2:227051106 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_746105339

1 SubmittersRCV001264054
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter) SNV
Unknown		 Chr2:227051135 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1974009894

1 SubmittersRCV001264055
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter) SNV
Unknown		 Chr2:227056062 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_768902127

1 SubmittersRCV001264056
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter) SNV
Unknown		 Chr2:227060163 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1976602205

1 SubmittersRCV001264175
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter) SNV
Unknown		 Chr2:227077908 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2059119564

1 SubmittersRCV001264176
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter) SNV
Unknown		 Chr2:227082126 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2059358378

1 SubmittersRCV001264177
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter) SNV
Unknown		 Chr2:227101506 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2060519888

1 SubmittersRCV001264179
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter) SNV
Unknown		 Chr2:227101539 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2060521689

1 SubmittersRCV001264180
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter) SNV
Unknown		 Chr2:227101892 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_34509421

1 SubmittersRCV001264181
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter) SNV
Unknown		 Chr2:227121067 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2061755379

1 SubmittersRCV001264182
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter) SNV
Unknown		 Chr2:227240149 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2068937789

1 SubmittersRCV001264036
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter) SNV
Unknown		 Chr2:227244951 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2069240492

1 SubmittersRCV001264037
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter) SNV
Unknown		 Chr2:227257606 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_768527987

1 SubmittersRCV001264038
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter) SNV
Unknown		 Chr2:227263817 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_1348174898

1 SubmittersRCV001264039
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter) SNV
Germline		 Chr2:227263842 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2070736908

2 SubmittersRCV001264040RCV003542339
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter) SNV
Unknown		 Chr2:227266509 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2070901479

1 SubmittersRCV001264366
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter) SNV
Unknown		 Chr2:227269936 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_921768118

1 SubmittersRCV001264367
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter) SNV
Germline		 Chr2:227270809 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2071189852

2 SubmittersRCV001264368RCV001390141
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter) SNV
Unknown		 Chr2:227270941 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_920504687

1 SubmittersRCV001264369
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter) SNV
Unknown		 Chr2:227273045 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_773515249

1 SubmittersRCV001264370
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter) SNV
Unknown		 Chr2:227279864 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2071839316

1 SubmittersRCV001264371
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter) SNV
Unknown		 Chr2:227282466 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072046147

1 SubmittersRCV001264372
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter) SNV
Unknown		 Chr2:227282493 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072047738

1 SubmittersRCV001264373
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter) SNV
Unknown		 Chr2:227284298 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072184526

1 SubmittersRCV001263591
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter) SNV
Unknown		 Chr2:227289221 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072530756

1 SubmittersRCV001263592
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter) SNV
Unknown		 Chr2:227290852 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072651666

1 SubmittersRCV001263593
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter) SNV
Unknown		 Chr2:227294514 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072936269

1 SubmittersRCV001263594
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter) SNV
Unknown		 Chr2:227294522 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072936529

1 SubmittersRCV001263595
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter) SNV
Unknown		 Chr2:227294525 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072936636

1 SubmittersRCV001263596
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter) SNV
Unknown		 Chr2:227295316 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2072983130

1 SubmittersRCV001263597
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter) SNV
Unknown		 Chr2:227303107 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2073363435

1 SubmittersRCV001263598
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter) SNV
Unknown		 Chr2:227304027 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2073400756

1 SubmittersRCV001263882
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter) SNV
Unknown		 Chr2:227304045 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2073401408

1 SubmittersRCV001263883
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter) SNV
Unknown		 Chr2:227307727 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2073567181

1 SubmittersRCV001263884
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter) SNV
Unknown		 Chr2:227308951 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2073628823

1 SubmittersRCV001263885
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter) SNV
Unknown		 Chr2:227309002 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2073630720

1 SubmittersRCV001263886
NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter) SNV
Unknown		 ChrX:108559104 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2065868148

1 SubmittersRCV001263607
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter) SNV
Unknown		 ChrX:108571811 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066069145

1 SubmittersRCV001263608
NM_033380.3(COL4A5):c.494C>G (p.Ser165Ter) SNV
Unknown		 ChrX:108573602 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066099798

1 SubmittersRCV001263609
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter) SNV
Unknown		 ChrX:108578348 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066188778

1 SubmittersRCV001263610
NM_033380.3(COL4A5):c.1075G>T (p.Gly359Ter) SNV
Unknown		 ChrX:108586657 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569492122

1 SubmittersRCV001263611
NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter) SNV
Unknown		 ChrX:108591090 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066424636

1 SubmittersRCV001263612
NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter) SNV
Unknown		 ChrX:108591599 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066435557

1 SubmittersRCV001263613
NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter) SNV
Unknown		 ChrX:108606889 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1298839151

1 SubmittersRCV001263614
NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter) SNV
Unknown		 ChrX:108614937 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066899099

1 SubmittersRCV001263898
NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter) SNV
Unknown		 ChrX:108620402 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067017511

1 SubmittersRCV001263899
NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter) SNV
Unknown		 ChrX:108621889 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067060145

1 SubmittersRCV001263900
NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter) SNV
Germline		 ChrX:108624244 Likely pathogenic X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2067108651

2 SubmittersRCV001263901RCV003908483
NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter) SNV
Unknown		 ChrX:108624267 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067109223

1 SubmittersRCV001263902
NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter) SNV
Unknown		 ChrX:108624275 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067109423

1 SubmittersRCV001263903
NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter) SNV
Unknown		 ChrX:108624310 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_756070988

1 SubmittersRCV001263904
NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter) SNV
Unknown		 ChrX:108625731 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067140465

1 SubmittersRCV001263905
NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter) SNV
Unknown		 ChrX:108626254 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067151807

1 SubmittersRCV001264065
NM_033380.3(COL4A5):c.3244A>T (p.Lys1082Ter) SNV
Unknown		 ChrX:108626347 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067154422

1 SubmittersRCV001264066
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter) SNV
Unknown		 ChrX:108655354 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2067818573

1 SubmittersRCV001264067
NM_033380.3(COL4A5):c.3535G>T (p.Gly1179Ter) SNV
Unknown		 ChrX:108666576 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886240

1 SubmittersRCV001264068
NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter) SNV
Unknown		 ChrX:108668333 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2068126785

1 SubmittersRCV001264069
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter) SNV
Germline		 ChrX:108680890 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_2068413590

2 SubmittersRCV001264070
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter) SNV
Unknown		 ChrX:108686123 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_143778018

1 SubmittersRCV001264071
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) SNV
Germline		 ChrX:108692850 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886293

3 SubmittersRCV001264072RCV001388175
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) SNV
Germline		 Chr2:227307805 Pathogenic/Likely pathogenic Inborn genetic diseases
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1189607438

4 SubmittersRCV001266707RCV001386469RCV001830069RCV002486013
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) SNV
Germline		 Chr2:227054702 Conflicting classifications of pathogenicity Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_372606845

4 SubmittersRCV001328134RCV001810012RCV001880182RCV004035434
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) SNV
Germline		 Chr2:227082159 Likely pathogenic Nephrotic syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2059360185

3 SubmittersRCV001328132RCV002480884RCV003994250
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) SNV
Germline		 Chr2:227267052 Likely pathogenic Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1256505387

3 SubmittersRCV001328060RCV002499460RCV003399042
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) SNV
Germline		 ChrX:108597006 Likely pathogenic Alport syndrome
X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_754223700

4 SubmittersRCV001328079RCV001780226RCV001880181
NM_033380.3(COL4A5):c.2042-2A>C SNV
Unknown		 ChrX:108601883 Likely pathogenic Alport syndrome No Assertion Criteria Provided
 rs_2066636714

1 SubmittersRCV001328139
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu) SNV
Unknown		 ChrX:108601972 Likely pathogenic Alport syndrome No Assertion Criteria Provided
 rs_2066640120

1 SubmittersRCV001328142
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala) SNV
Unknown		 ChrX:108621803 Pathogenic Alport syndrome No Assertion Criteria Provided
 rs_397515496

1 SubmittersRCV001328144
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg) SNV
Unknown		 ChrX:108655394 Pathogenic Alport syndrome No Assertion Criteria Provided
 rs_1569504072

1 SubmittersRCV001328071
NM_033380.3(COL4A5):c.3374-1G>A SNV
Unknown		 ChrX:108665506 Pathogenic Alport syndrome No Assertion Criteria Provided
 rs_2068058963

1 SubmittersRCV001328184
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter) SNV
Unknown		 ChrX:108667135 Pathogenic Alport syndrome No Assertion Criteria Provided
 rs_1381117009

1 SubmittersRCV001328296
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter) SNV
Unknown		 ChrX:108677574 Pathogenic Alport syndrome No Assertion Criteria Provided
 rs_2068330799

1 SubmittersRCV001328143
NM_033380.3(COL4A5):c.3942+2T>C SNV
Unknown		 ChrX:108677635 Pathogenic Alport syndrome No Assertion Criteria Provided
 rs_2068333361

1 SubmittersRCV001328068
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His) SNV
Unknown		 ChrX:108694869 Pathogenic Alport syndrome No Assertion Criteria Provided
 rs_281874747

1 SubmittersRCV001328291
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser) SNV
Germline		 Chr2:227121109 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_762682812

3 SubmittersRCV001278689RCV001317669RCV002480902
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His) SNV
Germline		 Chr2:227298694 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_759579368

3 SubmittersRCV001278696RCV002486041RCV002537806
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) SNV
Germline		 Chr2:227008019 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter
 rs_377058706

2 SubmittersRCV001280823RCV003336370
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) SNV
Germline		 Chr2:227057582 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_200814061

3 SubmittersRCV001280847RCV001315071
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) SNV
Germline		 Chr2:227089903 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1559594442

3 SubmittersRCV001280848RCV001535948RCV003442821
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) SNV
Germline		 Chr2:227108598 Likely pathogenic Benign familial hematuria
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter
 rs_2060994526

2 SubmittersRCV001280874RCV002499492
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val) SNV
Germline		 ChrX:108667133 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_2068097992

1 SubmittersRCV001280830
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter) SNV
Germline		 Chr2:227305050 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 rs_2073446479

1 SubmittersRCV001281348
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) SNV
Germline		 Chr2:227031991 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_1384523881

3 SubmittersRCV001288037RCV001835368
NM_033380.3(COL4A5):c.2396-1G>C SNV
Unknown		 ChrX:108614910 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_886041509

2 SubmittersRCV001288040RCV002493513
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) SNV
Germline		 ChrX:108695336 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_865842167

3 SubmittersRCV001288043RCV002504417
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) SNV
Germline		 ChrX:108687482 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_281874735

3 SubmittersRCV001290541RCV001377048
NM_000092.5(COL4A4):c.871-6T>C SNV
Germline		 Chr2:227102854 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 rs_749753913

3 SubmittersRCV001299288RCV001830159RCV004004984
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) SNV
Germline		 Chr2:227140161 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 rs_748152418

2 SubmittersRCV001295502RCV001830126
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) SNV
Germline		 Chr2:227008289 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_1962651394

3 SubmittersRCV001316354RCV002493653
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) SNV
Germline		 Chr2:227060177 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_759828394

3 SubmittersRCV001325971RCV001831013
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) SNV
Germline		 Chr2:227088805 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_777805216

3 SubmittersRCV001315658RCV001836294RCV002504486
NM_000092.5(COL4A4):c.3214+1G>T SNV
Unknown		 Chr2:227050067 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_747167770

1 SubmittersRCV001330984
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) SNV
Germline		 Chr2:227270873 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2071193842

2 SubmittersRCV001330979RCV003311978
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) SNV
Germline		 ChrX:108686097 Conflicting classifications of pathogenicity X-linked Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2068539626

3 SubmittersRCV001332498RCV004526112
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys) SNV
Germline		 Chr2:227103149 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_371904688

4 SubmittersRCV001333201RCV002546616
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) SNV
Germline		 Chr2:227103144 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_2060620860

3 SubmittersRCV001338956RCV001831050RCV004531129
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) SNV
Germline		 Chr2:227259802 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_765336013

3 SubmittersRCV001352559RCV002476620
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) SNV
Germline		 Chr2:227309227 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_369575989

5 SubmittersRCV001348296RCV001831140
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val) SNV
Germline		 ChrX:108598799 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_104886143

2 SubmittersRCV001337214RCV001536022
NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro) SNV
Germline		 ChrX:108606827 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_200371339

2 SubmittersRCV001350091RCV001391155
NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter) SNV
Unknown		 Chr2:227293224 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_2106226493

1 SubmittersRCV001353239
NM_033380.3(COL4A5):c.671G>T (p.Gly224Val) SNV
Germline		 ChrX:108578103 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_2147770618

1 SubmittersRCV001353348
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp) SNV
Germline		 Chr2:227244357 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1414411811

3 SubmittersRCV001366917RCV001826053
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) SNV
Germline		 ChrX:108573584 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_2147759208

3 SubmittersRCV001362323RCV001391160
NM_000091.5(COL4A3):c.2881+1G>A SNV
Germline		 Chr2:227284346 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1559899827

2 SubmittersRCV001377049RCV001726512
NM_000092.5(COL4A4):c.3214+1G>A SNV
Germline		 Chr2:227050067 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_747167770

2 SubmittersRCV001379732RCV002499785
NM_000092.5(COL4A4):c.559-2A>G SNV
Germline		 Chr2:227111715 Likely pathogenic Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_766243664

4 SubmittersRCV001378041RCV001831350RCV002493917RCV004531188
NM_000091.5(COL4A3):c.1114+2T>C SNV
Germline		 Chr2:227259879 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 rs_956551930

2 SubmittersRCV001379352RCV001836388
NM_033380.3(COL4A5):c.151G>A (p.Gly51Arg) SNV
Germline		 ChrX:108559073 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147722151

2 SubmittersRCV001378762RCV004577548
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg) SNV
Germline		 ChrX:108577979 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_267606310

2 SubmittersRCV001377287RCV002493915
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu) SNV
Germline		 ChrX:108580570 Likely pathogenic Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147776175

3 SubmittersRCV001377840RCV002476716RCV003416299
NM_033380.3(COL4A5):c.2042-2A>G SNV
Germline		 ChrX:108601883 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2066636714

2 SubmittersRCV001377703RCV002493916
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) SNV
Germline		 ChrX:108624316 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2067110688

3 SubmittersRCV001377309RCV003230669
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) SNV
Germline		 ChrX:108626210 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886212

3 SubmittersRCV001377845RCV002499779
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg) SNV
Germline		 ChrX:108665578 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147953060

2 SubmittersRCV001377942RCV002488195
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser) SNV
Germline		 ChrX:108677589 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147975020

2 SubmittersRCV001378433RCV002471103
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys) SNV
Germline		 ChrX:108677598 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1327176357

2 SubmittersRCV001377383RCV003331141
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) SNV
Germline		 Chr2:227007445 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1408907127

4 SubmittersRCV001389027RCV002488211RCV004037699
NM_033380.3(COL4A5):c.4706+1G>T SNV
Germline		 ChrX:108692926 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569508998

2 SubmittersRCV001387032RCV002504648
NM_033380.3(COL4A5):c.4706+2T>C SNV
Germline		 ChrX:108692927 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147998807

2 SubmittersRCV001386223RCV001391159
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu) SNV
Germline		 Chr2:227054728 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2150221180

1 SubmittersRCV001391123
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg) SNV
Germline		 Chr2:227253570 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_2125932350

1 SubmittersRCV001391173
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu) SNV
Germline		 Chr2:227273055 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_2125996486

3 SubmittersRCV001391171RCV001871997RCV003458035
NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp) SNV
Germline		 Chr2:227280483 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_1308023279

2 SubmittersRCV001391175RCV004037710
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg) SNV
Germline		 Chr2:227298699 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2106250807

1 SubmittersRCV001391122
NM_033380.3(COL4A5):c.322-1G>T SNV
Germline		 ChrX:108568758 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886375

1 SubmittersRCV001391165
NM_033380.3(COL4A5):c.439-1G>A SNV
Germline		 ChrX:108571810 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147754967

1 SubmittersRCV001391143
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu) SNV
Germline		 ChrX:108573647 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147759475

1 SubmittersRCV001391163
NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg) SNV
Germline		 ChrX:108578102 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2147770608

2 SubmittersRCV001391150RCV003558828
NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys) SNV
Germline		 ChrX:108582884 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886084

2 SubmittersRCV001391154RCV003718411
NM_033380.3(COL4A5):c.1033-2A>G SNV
Germline		 ChrX:108586613 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147787964

2 SubmittersRCV001391153RCV002551584
NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys) SNV
Germline		 ChrX:108595565 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569493662

1 SubmittersRCV001391157
NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val) SNV
Germline		 ChrX:108598793 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886142

2 SubmittersRCV001391149RCV001871996
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys) SNV
Germline		 ChrX:108598852 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147813821

1 SubmittersRCV001391156
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser) SNV
Germline		 ChrX:108601989 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886161

1 SubmittersRCV001391152
NM_033380.3(COL4A5):c.2395+3A>G SNV
Germline		 ChrX:108606895 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147832635

1 SubmittersRCV001391151
NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp) SNV
Germline		 ChrX:108655395 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886224

2 SubmittersRCV001391167
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter) SNV
Germline		 ChrX:108668384 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1290001124

1 SubmittersRCV001391162
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val) SNV
Germline		 ChrX:108670228 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147963152

1 SubmittersRCV001391161
NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser) SNV
Germline		 ChrX:108677508 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147974808

1 SubmittersRCV001391169
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg) SNV
Germline		 ChrX:108687694 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147991725

1 SubmittersRCV001391158
NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter) SNV
Germline		 ChrX:108694887 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2148001657

1 SubmittersRCV001391166
NM_000091.5(COL4A3):c.4028-15T>C SNV
Germline		 Chr2:227304004 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_764478470

3 SubmittersRCV001396871RCV002499839
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu) SNV
Germline		 ChrX:108606845 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 rs_747288279

3 SubmittersRCV001458210RCV002495654RCV003416347
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) SNV
Germline		 ChrX:108598831 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_368347660

4 SubmittersRCV001512841RCV001832686RCV003346589
NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu) SNV
Germline		 Chr2:227282479 Pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_2072046668

1 SubmittersRCV001533419
NM_000092.5(COL4A4):c.3973+1G>T SNV
Germline		 Chr2:227030442 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_755478262

2 SubmittersRCV001535918RCV001873797
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg) SNV
Germline		 Chr2:227042202 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_899227425

2 SubmittersRCV001536084RCV001873802
NM_000092.5(COL4A4):c.3289+1G>C SNV
Unknown		 Chr2:227047474 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Single Submitter
 rs_1973128133

1 SubmittersRCV001536090
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) SNV
Germline		 Chr2:227051113 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_769138971

4 SubmittersRCV001535860RCV001574540RCV001836442
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val) SNV
Unknown		 Chr2:227088732 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Single Submitter
 rs_2150595484

1 SubmittersRCV001535882
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val) SNV
Unknown		 Chr2:227109267 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Single Submitter
 rs_2061040474

1 SubmittersRCV001535911
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) SNV
Unknown		 Chr2:227253306 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Single Submitter
 rs_2069900248

1 SubmittersRCV001535907
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) SNV
Germline		 Chr2:227277476 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2106132144

2 SubmittersRCV001535940RCV001873798
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) SNV
Germline		 Chr2:227297791 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1183958961

3 SubmittersRCV001535999RCV003346606RCV002568227
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp) SNV
Unknown		 ChrX:108539755 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147657533

1 SubmittersRCV001535977
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg) SNV
Unknown		 ChrX:108568804 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569488426

1 SubmittersRCV001536000
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala) SNV
Unknown		 ChrX:108591118 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886101

1 SubmittersRCV001536038
NM_033380.3(COL4A5):c.3016+2T>C SNV
Unknown		 ChrX:108624336 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147869403

1 SubmittersRCV001535859
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val) SNV
Unknown		 ChrX:108626255 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1603298993

1 SubmittersRCV001535851
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp) SNV
Germline		 ChrX:108687491 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147991184

2 SubmittersRCV001535849RCV002568226
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) SNV
Germline		 ChrX:108584494 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886093

4 SubmittersRCV001542720RCV002032540
NM_033380.3(COL4A5):c.4315+2T>A SNV
Germline		 ChrX:108686131 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_2147989449

1 SubmittersRCV001542721
NM_000091.5(COL4A3):c.3500G>A (p.Gly1167Glu) SNV
Germline		 Chr2:227295045 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_2106236091

1 SubmittersRCV001544541
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) SNV
Germline		 Chr2:227043119 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_778458961

3 SubmittersRCV001552631RCV001832756
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=) SNV
Germline		 Chr2:227297699 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_753945261

2 SubmittersRCV001559269RCV001559270RCV002072116
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=) SNV
Germline		 Chr2:227307843 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2073573869

2 SubmittersRCV001559321RCV001559322RCV003771710
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) SNV
Germline		 Chr2:227253561 Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2125932297

3 SubmittersRCV001570144RCV002476872
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) SNV
Germline		 Chr2:227098753 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_751952236

3 SubmittersRCV001588282RCV002495959
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp) SNV
Germline		 Chr2:227273113 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_752819997

3 SubmittersRCV001653054RCV001827560
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) SNV
Germline		 Chr2:227104034 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2060673883

2 SubmittersRCV001706769RCV001868397
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val) SNV
Unknown		 Chr2:227279802 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_2071832975

1 SubmittersRCV001726707
NM_033380.3(COL4A5):c.228A>T (p.Gln76His) SNV
Unknown		 ChrX:108559150 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147722497

1 SubmittersRCV001730002
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter) SNV
Germline		 ChrX:108624292 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147869275

2 SubmittersRCV001731211RCV002539800
NM_033380.3(COL4A5):c.4995-1G>T SNV
Germline		 ChrX:108696296 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2148003624

2 SubmittersRCV001733371RCV002032730
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) SNV
Germline		 Chr2:227140220 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_753016038

3 SubmittersRCV001769123RCV002506794
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) SNV
Germline		 Chr2:227088745 Pathogenic/Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2150595867

2 SubmittersRCV001780552RCV002489829
NM_033380.3(COL4A5):c.2087G>A (p.Gly696Asp) SNV
Germline		 ChrX:108601930 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147820991

2 SubmittersRCV001780554RCV001885147
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) SNV
Germline		 ChrX:108580713 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886450

3 SubmittersRCV001780555RCV002034544
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr) SNV
Germline		 ChrX:108687611 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569508382

1 SubmittersRCV001780828
NM_033380.3(COL4A5):c.3809G>A (p.Gly1270Asp) SNV
Germline		 ChrX:108677500 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147974770

2 SubmittersRCV001780829RCV003718424
NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg) SNV
Unknown		 ChrX:108666594 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter
 rs_1353480777

1 SubmittersRCV001795866
NM_033380.3(COL4A5):c.936+2T>C SNV
Germline		 ChrX:108581029 Pathogenic Alport syndrome Criteria Provided
Single Submitter
 rs_2147777495

1 SubmittersRCV001795869
NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys) SNV
Germline		 ChrX:108668417 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter
 rs_2147959392

1 SubmittersRCV001795871
NM_000092.5(COL4A4):c.1240G>T (p.Gly414Cys) SNV
Unknown		 Chr2:227094254 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter
 rs_373150214

1 SubmittersRCV001795873
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg) SNV
Unknown		 Chr2:227254707 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_2125936494

1 SubmittersRCV001801297
NM_000092.5(COL4A4):c.1099+1G>T SNV
Germline		 Chr2:227099619 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1372782305

2 SubmittersRCV001808118RCV001869581
NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg) SNV
Germline		 Chr2:227282460 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_1574782666

1 SubmittersRCV001808156
NM_033380.3(COL4A5):c.2440G>A (p.Gly814Arg) SNV
Germline		 ChrX:108614955 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147849915

1 SubmittersRCV001808173
NM_033380.3(COL4A5):c.1090C>T (p.Pro364Ser) SNV
Germline		 ChrX:108586672 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147788213

1 SubmittersRCV001808858
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val) SNV
Germline		 ChrX:108582885 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147781020

1 SubmittersRCV001814741
NM_033380.3(COL4A5):c.4788G>A (p.Trp1596Ter) SNV
Germline		 ChrX:108694888 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2148001666

1 SubmittersRCV001823548
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg) SNV
Germline		 ChrX:108666549 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886237

1 SubmittersRCV001837585
NM_033380.3(COL4A5):c.3106+1G>A SNV
Germline		 ChrX:108625795 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147872358

1 SubmittersRCV001837595
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) SNV
Germline		 Chr2:227008107 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2149720690

2 SubmittersRCV001837596RCV002034702
NM_033380.3(COL4A5):c.3554-2A>G SNV
Germline		 ChrX:108667131 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147956337

1 SubmittersRCV001837604
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu) SNV
Germline		 Chr2:227118703 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_368884003

3 SubmittersRCV001837700RCV002503338
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) SNV
Germline		 ChrX:108694909 Pathogenic Alport syndrome
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 rs_104886299

2 SubmittersRCV001849648RCV002506864
NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp) SNV
Germline		 ChrX:108614911 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 rs_2147849728

1 SubmittersRCV001849658
NM_033380.3(COL4A5):c.1423+1G>T SNV
Germline		 ChrX:108591645 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Single Submitter
 rs_104886312

2 SubmittersRCV002543432RCV001849660
NM_033380.3(COL4A5):c.891+1G>T SNV
Germline		 ChrX:108580739 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886451

2 SubmittersRCV002004462RCV002507678
NM_000091.5(COL4A3):c.3070+1G>A SNV
Germline		 Chr2:227290089 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2106206598

2 SubmittersRCV002014881RCV002507739
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg) SNV
Germline		 ChrX:108655430 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147935344

3 SubmittersRCV001919048RCV002490269
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser) SNV
Germline		 Chr2:227164751 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_890999119

3 SubmittersRCV001881491RCV002490126
NM_000091.5(COL4A3):c.1114+1G>A SNV
Germline		 Chr2:227259878 Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1286895614

2 SubmittersRCV002028537RCV002497998
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met) SNV
Germline		 Chr2:227244345 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_377136253

2 SubmittersRCV001904832RCV002489994
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg) SNV
Germline		 ChrX:108597024 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147809070

2 SubmittersRCV001907909RCV002506928
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) SNV
Germline		 ChrX:108581010 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147777425

2 SubmittersRCV002028076RCV002498077
NM_000091.5(COL4A3):c.766-5G>A SNV
Germline		 Chr2:227254107 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 rs_751236477

3 SubmittersRCV001932282RCV002482515RCV003948780
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp) SNV
Germline		 Chr2:227295009 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2106235905

2 SubmittersRCV001970167RCV002479583
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) SNV
Germline		 Chr2:227303904 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_375290088

6 SubmittersRCV001950918RCV002271709RCV002497879RCV003992591
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val) SNV
Germline		 Chr2:227280546 Pathogenic/Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2106151987

2 SubmittersRCV002045754RCV002507802
NM_000091.5(COL4A3):c.234+1G>A SNV
Germline		 Chr2:227240233 Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1240838887

2 SubmittersRCV002040192RCV002507775
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) SNV
Germline		 ChrX:108668426 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147959471

2 SubmittersRCV001977546RCV002497928
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) SNV
Germline		 Chr2:227266492 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2125981235

2 SubmittersRCV001964405RCV002492185
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) SNV
Germline		 Chr2:227270788 Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_779575469

2 SubmittersRCV002017531RCV002498013
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp) SNV
Germline		 ChrX:108597516 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147810410

2 SubmittersRCV002007806RCV002479634
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val) SNV
Germline		 ChrX:108615016 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147850123

2 SubmittersRCV001957123RCV002503623
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) SNV
Germline		 Chr2:227295008 Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_774583962

2 SubmittersRCV001980273RCV002479685
NM_033380.3(COL4A5):c.231+2T>C SNV
Germline		 ChrX:108559155 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_763538451

2 SubmittersRCV001965254RCV002497810
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) SNV
Germline		 ChrX:108580551 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603283567

2 SubmittersRCV002009380RCV002486669
NM_000092.5(COL4A4):c.559-2A>T SNV
Germline		 Chr2:227111715 Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_766243664

2 SubmittersRCV002050210RCV002489916
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp) SNV
Germline		 Chr2:227078025 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_374340855

2 SubmittersRCV001956360RCV002479587
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu) SNV
Germline		 Chr2:227251161 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_371173786

2 SubmittersRCV002045971RCV002507804
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg) SNV
Germline		 Chr2:227297727 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1167411352

2 SubmittersRCV001902520RCV002482602
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter) SNV
Germline		 ChrX:108622741 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147865716

2 SubmittersRCV001959008RCV002497891
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr) SNV
Germline		 ChrX:108696353 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2148003771

2 SubmittersRCV001958780RCV002497890
NM_033380.3(COL4A5):c.3850G>T (p.Gly1284Ter) SNV
Germline		 ChrX:108677541 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147974914

2 SubmittersRCV002042141RCV003388616
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys) SNV
Germline		 Chr2:227283850 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_761717909

2 SubmittersRCV001910076RCV002490249
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) SNV
Germline		 ChrX:108591127 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886102

3 SubmittersRCV002042672RCV002283578
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) SNV
Germline		 Chr2:227266473 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_757341933

3 SubmittersRCV001888088RCV002503386
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg) SNV
Germline		 ChrX:108622702 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147865597

2 SubmittersRCV002046079RCV002479812
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg) SNV
Unknown		 ChrX:108621838 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_140753501

1 SubmittersRCV002074470
NM_000091.5(COL4A3):c.274G>A (p.Val92Ile) SNV
Germline		 Chr2:227244359 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 rs_200873401

3 SubmittersRCV002196495RCV003089072RCV003485767
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val) SNV
Germline		 Chr2:227030557 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 rs_571869797

3 SubmittersRCV002210982RCV002496146
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) SNV
Germline		 Chr2:227254124 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2125934541

1 SubmittersRCV002222946
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu) SNV
Germline		 Chr2:227266993 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2125982395

3 SubmittersRCV002225062RCV002502044RCV003089194
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg) SNV
Germline		 Chr2:227054722 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_764465049

2 SubmittersRCV002225149RCV003089195
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg) SNV
Germline		 Chr2:227007483 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_749899964

2 SubmittersRCV002225236RCV003101287
NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter) SNV
Unknown		 Chr2:227140188 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_768245333

1 SubmittersRCV002243539
NM_000091.5(COL4A3):c.3337+1G>A SNV
Germline		 Chr2:227293318 Pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter
 rs_1430568143

1 SubmittersRCV003333777
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys) SNV
Germline		 ChrX:108586720 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2066342908

1 SubmittersRCV002249382
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu) SNV
Germline		 ChrX:108598739 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147813326

1 SubmittersRCV002249383
NM_000092.5(COL4A4):c.4093G>T (p.Glu1365Ter) SNV
Germline		 Chr2:227022171 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2149854376

2 SubmittersRCV002250836RCV003094070
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp) SNV
Germline		 ChrX:108575911 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886059

1 SubmittersRCV002250924
NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter) SNV
Germline		 Chr2:227304105 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2106271012

1 SubmittersRCV002251096
NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp) SNV
Germline		 Chr2:227256353 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV002466748
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp) SNV
Germline		 Chr2:227280546 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2106151987

2 SubmittersRCV002272123RCV003560912
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) SNV
Germline		 Chr2:227101899 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Single Submitter
 rs_1005389790

1 SubmittersRCV002272124
NM_000092.5(COL4A4):c.853G>A (p.Gly285Arg) SNV
Germline		 Chr2:227103161 Pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 rs_2150793962

1 SubmittersRCV002273873
NM_033380.3(COL4A5):c.427C>T (p.Gln143Ter) SNV
Germline		 ChrX:108571455 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147753940

1 SubmittersRCV002274274
NM_033380.3(COL4A5):c.1312G>C (p.Gly438Arg) SNV
Germline		 ChrX:108591204 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2147797143

1 SubmittersRCV002274279
NM_033380.3(COL4A5):c.385-716G>A SNV
Germline		 ChrX:108570697 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV002280378
NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys) SNV
Germline		 ChrX:108573619 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002283625
NM_000092.5(COL4A4):c.2968+1G>T SNV
Germline		 Chr2:227052304 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002283912
NM_033380.3(COL4A5):c.835-9T>A SNV
Germline		 ChrX:108580673 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV002293267
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg) SNV
Germline		 Chr2:227101539 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002294583
NM_033380.3(COL4A5):c.3622G>C (p.Gly1208Arg) SNV
Germline		 ChrX:108668336 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306281
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter) SNV
Unknown		 Chr2:227307886 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306478
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter) SNV
Unknown		 Chr2:227305038 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306570
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter) SNV
Unknown		 ChrX:108687670 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306613
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter) SNV
Unknown		 Chr2:227279859 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306766
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter) SNV
Unknown		 Chr2:227270923 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306789
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter) SNV
Unknown		 ChrX:108568804 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309631
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter) SNV
Unknown		 Chr2:227022139 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309668
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter) SNV
Unknown		 ChrX:108578297 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309694
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter) SNV
Unknown		 Chr2:227259829 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309788
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter) SNV
Unknown		 ChrX:108694883 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309804
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter) SNV
Unknown		 Chr2:227270839 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309839
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter) SNV
Unknown		 Chr2:227051096 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309871
NM_000092.5(COL4A4):c.1073T>A (p.Leu358Ter) SNV
Unknown		 Chr2:227099646 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309886
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter) SNV
Unknown		 Chr2:227050097 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002310036
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter) SNV
Unknown		 ChrX:108680926 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002310049
NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter) SNV
Unknown		 ChrX:108620417 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002307918
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter) SNV
Unknown		 Chr2:227051069 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002307924
NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter) SNV
Unknown		 ChrX:108621808 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002307943
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter) SNV
Unknown		 Chr2:227309051 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002308006
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter) SNV
Unknown		 Chr2:227309273 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002308110
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter) SNV
Unknown		 Chr2:227282478 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002308161
NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter) SNV
Unknown		 ChrX:108597537 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002308163
NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter) SNV
Unknown		 ChrX:108694862 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002308213
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter) SNV
Unknown		 Chr2:227114630 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002308288
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter) SNV
Unknown		 ChrX:108624320 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002308303
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter) SNV
Unknown		 Chr2:227293272 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002308335
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter) SNV
Unknown		 Chr2:227251369 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309030
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter) SNV
Unknown		 Chr2:227057452 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309104
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter) SNV
Germline		 ChrX:108578306 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002309126
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter) SNV
Unknown		 Chr2:227279837 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309225
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter) SNV
Unknown		 Chr2:227042229 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309237
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter) SNV
Unknown		 Chr2:227308995 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309257
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter) SNV
Unknown		 Chr2:227102806 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309331
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter) SNV
Unknown		 Chr2:227098745 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309460
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter) SNV
Unknown		 ChrX:108681883 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309471
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter) SNV
Unknown		 Chr2:227305071 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002309486
NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter) SNV
Unknown		 ChrX:108666501 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306924
NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter) SNV
Unknown		 Chr2:227088733 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002306929
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter) SNV
Unknown		 ChrX:108573577 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002307211
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter) SNV
Unknown		 Chr2:227108589 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002307212
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter) SNV
Unknown		 Chr2:227269912 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002307332
NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter) SNV
Unknown		 ChrX:108668498 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002307333
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter) SNV
Unknown		 Chr2:227022056 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002310113
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter) SNV
Unknown		 Chr2:227289218 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002310246
NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter) SNV
Unknown		 Chr2:227109241 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002310279
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter) SNV
Unknown		 Chr2:227140182 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002310331
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter) SNV
Unknown		 Chr2:227059591 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002310547
NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg) SNV
Germline		 Chr2:227102824 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002467377RCV002569360
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val) SNV
Germline		 ChrX:108624326 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468690
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg) SNV
Germline		 Chr2:227245999 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468830
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val) SNV
Germline		 Chr2:227273004 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468831
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala) SNV
Germline		 Chr2:227282434 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468832
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu) SNV
Germline		 Chr2:227283821 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468833
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val) SNV
Germline		 Chr2:227284328 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468834
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg) SNV
Germline		 ChrX:108580569 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468842
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg) SNV
Germline		 ChrX:108581010 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468843
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val) SNV
Germline		 ChrX:108582903 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002468844
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg) SNV
Germline		 ChrX:108601947 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002471908
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val) SNV
Germline		 ChrX:108668487 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002471910
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val) SNV
Germline		 ChrX:108597414 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002470366
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg) SNV
Germline		 ChrX:108681852 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002470453
NM_033380.3(COL4A5):c.231+1G>T SNV
Germline		 ChrX:108559154 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002508854
NM_033380.3(COL4A5):c.3017-2A>G SNV
Germline		 ChrX:108625703 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002510417RCV002569436
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser) SNV
Germline		 ChrX:108606742 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002795895
NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe) SNV
Unknown		 ChrX:108692817 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002814360
NM_033380.3(COL4A5):c.4088-2A>G SNV
Germline		 ChrX:108681758 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002839105RCV003330109
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp) SNV
Germline		 ChrX:108667133 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003019575RCV003479462
NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg) SNV
Germline		 ChrX:108559082 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003046789RCV003236595
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser) SNV
Germline		 Chr2:227054666 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002694276RCV003485833
NM_000091.5(COL4A3):c.610-1G>A SNV
Germline		 Chr2:227251335 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003123358
NM_033380.3(COL4A5):c.4087+1G>C SNV
Germline		 ChrX:108680957 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003142372
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg) SNV
Unknown		 Chr2:227060145 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003148431
NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg) SNV
Unknown		 ChrX:108614937 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003152948
NM_000092.5(COL4A4):c.1459+1G>A SNV
Germline		 Chr2:227089867 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003153023RCV003561196
NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter) SNV
Unknown		 Chr2:227310832 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003153073
NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp) SNV
Unknown		 ChrX:108597423 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003153095
NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg) SNV
Unknown		 Chr2:227284327 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003153197
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala) SNV
Germline		 Chr2:227293192 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003155601
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val) SNV
Germline		 Chr2:227098717 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV003223469
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg) SNV
Germline		 Chr2:227054603 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003230847
NM_033380.3(COL4A5):c.82-1G>A SNV
Germline		 ChrX:108539745 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003236642
NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu) SNV
Germline		 Chr2:227280998 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003236658
NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu) SNV
Germline		 Chr2:227259860 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003236659
NM_033380.3(COL4A5):c.4446C>A (p.Cys1482Ter) SNV
Germline		 ChrX:108687612 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003236662
NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg) SNV
Unknown		 ChrX:108571811 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003314291
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg) SNV
Unknown		 Chr2:227294972 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003314355
NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp) SNV
Germline		 Chr2:227259850 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003314523
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg) SNV
Germline		 Chr2:227261117 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003324185
NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val) SNV
Germline		 ChrX:108597507 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV003324611
NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys) SNV
Germline		 ChrX:108625785 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV003324636
NM_000092.5(COL4A4):c.4523-1G>A SNV
Germline		 Chr2:227008305 Pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV003333864
NM_033380.3(COL4A5):c.3791-41A>G SNV
Germline		 ChrX:108670187 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003335844
NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg) SNV
Germline		 ChrX:108624298 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003340941
NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter) SNV
Germline		 ChrX:108539771 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003337949
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter) SNV
Germline		 ChrX:108440185 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003387637
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu) SNV
Germline		 ChrX:108655449 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003388340RCV003565663
NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp) SNV
Germline		 ChrX:108621803 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003388768RCV003679199
NM_033380.3(COL4A5):c.2096G>A (p.Gly699Glu) SNV
Germline		 ChrX:108601939 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV003389144
NM_000091.5(COL4A3):c.3928G>T (p.Gly1310Ter) SNV
Germline		 Chr2:227303083 Likely pathogenic Alport syndrome 3b, autosomal recessive No Assertion Criteria Provided

1 SubmittersRCV003389230
NM_033380.3(COL4A5):c.3053G>T (p.Gly1018Val) SNV
Unknown		 ChrX:108625741 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003389290
NM_000092.5(COL4A4):c.2192G>A (p.Gly731Asp) SNV
Germline		 Chr2:227059596 Likely pathogenic Autosomal recessive Alport syndrome
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003989840RCV004531600
NM_033380.3(COL4A5):c.1443C>A (p.Cys481Ter) SNV
Germline		 ChrX:108595528 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003445433
NM_033380.3(COL4A5):c.2917+2T>A SNV
Germline		 ChrX:108622827 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003447715
NM_033380.3(COL4A5):c.3016+1G>A SNV
Germline		 ChrX:108624335 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003447723
NM_033380.3(COL4A5):c.834+1G>T SNV
Germline		 ChrX:108580587 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003447779
NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys) SNV
Germline		 Chr2:227101900 Likely pathogenic Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003459153
NM_033380.3(COL4A5):c.4529-1G>C SNV
Germline		 ChrX:108692747 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004577579
NM_033380.3(COL4A5):c.1207G>A (p.Gly403Arg) SNV
Germline		 ChrX:108591099 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004577582
NM_033380.3(COL4A5):c.276+3A>C SNV
Germline		 ChrX:108563929 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004577584
NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter) SNV
Germline		 Chr2:227259801 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004577585
NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter) SNV
Germline		 Chr2:227263903 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003553989RCV004577586
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val) SNV
Germline		 ChrX:108580579 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003479760
NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala) SNV
Unknown		 Chr2:227104033 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003484553
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg) SNV
Germline		 Chr2:227284228 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003486512
NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val) SNV
Unknown		 Chr2:227043085 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003494093
NM_033380.3(COL4A5):c.3098G>T (p.Gly1033Val) SNV
Germline		 ChrX:108625786 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003494520
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp) SNV
Germline		 Chr2:227253306 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003494543
NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu) SNV
Unknown		 ChrX:108687518 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003526645
NM_033380.3(COL4A5):c.4994+1G>A SNV
Germline		 ChrX:108695440 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003684807RCV003985630
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg) SNV
Germline		 Chr2:227007477 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003984928
NM_000091.5(COL4A3):c.4108G>A (p.Gly1370Arg) SNV
Germline		 Chr2:227304099 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003984939
NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys) SNV
Germline		 Chr2:227303867 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003984949
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val) SNV
Germline		 Chr2:227047501 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003984952
NM_033380.3(COL4A5):c.3098G>A (p.Gly1033Asp) SNV
Germline		 ChrX:108625786 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003989211
NM_000092.5(COL4A4):c.4279G>A (p.Gly1427Arg) SNV
Germline		 Chr2:227012235 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991164
NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg) SNV
Germline		 Chr2:227280518 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991169
NM_033380.3(COL4A5):c.2998G>T (p.Gly1000Ter) SNV
Germline		 ChrX:108624316 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991182
NM_000092.5(COL4A4):c.2074G>A (p.Gly692Ser) SNV
Germline		 Chr2:227060226 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991207
NM_033380.3(COL4A5):c.2723G>C (p.Gly908Ala) SNV
Germline		 ChrX:108621848 Conflicting classifications of pathogenicity X-linked Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003991215RCV004371920
NM_033380.3(COL4A5):c.3329G>T (p.Gly1110Val) SNV
Germline		 ChrX:108655413 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991221
NM_033380.3(COL4A5):c.1033-10G>A SNV
Germline		 ChrX:108586605 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991246
NM_000091.5(COL4A3):c.3383G>A (p.Gly1128Asp) SNV
Germline		 Chr2:227294535 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991248
NM_000091.5(COL4A3):c.698G>T (p.Gly233Val) SNV
Germline		 Chr2:227253571 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991283
NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu) SNV
Germline		 Chr2:227280902 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991284
NM_000091.5(COL4A3):c.2666G>T (p.Gly889Val) SNV
Germline		 Chr2:227283776 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991303
NM_000091.5(COL4A3):c.2746+1G>C SNV
Germline		 Chr2:227283857 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991308
NM_033380.3(COL4A5):c.3553+2T>C SNV
Germline		 ChrX:108666596 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991360
NM_000092.5(COL4A4):c.930+1G>T SNV
Germline		 Chr2:227102788 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003991375
NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala) SNV
Germline		 Chr2:227257631 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003992012
NM_000091.5(COL4A3):c.1697G>A (p.Gly566Asp) SNV
Germline		 Chr2:227270891 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003992050
NM_033380.3(COL4A5):c.4581C>G (p.Cys1527Trp) SNV
Germline		 ChrX:108692800 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003994650
NM_033380.3(COL4A5):c.2678-1G>T SNV
Germline		 ChrX:108621802 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003994654
NM_000091.5(COL4A3):c.1787G>T (p.Gly596Val) SNV
Germline		 Chr2:227272977 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003994660
NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp) SNV
Germline		 ChrX:108568796 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003994694
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr) SNV
Germline		 Chr1:197421518 Pathogenic/Likely pathogenic X-linked Alport syndrome
Leber congenital amaurosis 8
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004526474RCV004573485RCV004579629
NM_033380.3(COL4A5):c.2492G>A (p.Gly831Glu) SNV
Germline		 ChrX:108615007 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004546874
NM_000091.5(COL4A3):c.4289G>A (p.Gly1430Glu) SNV
Germline		 Chr2:227307746 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004546875
NM_000092.5(COL4A4):c.4625G>A (p.Trp1542Ter) SNV
Germline		 Chr2:227008202 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004546886
NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter) SNV
Germline		 Chr2:227307814 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004545912
NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu) SNV
Germline		 Chr2:227293255 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004545941
NM_000092.5(COL4A4):c.145G>T (p.Gly49Ter) SNV
Germline		 Chr2:227140208 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004545948
NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser) SNV
Germline		 Chr2:227294999 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004545952
NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val) SNV
Germline		 Chr2:227263900 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004545959
NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg) SNV
Germline		 Chr2:227297850 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004545967
NM_000092.5(COL4A4):c.1759G>T (p.Gly587Cys) SNV
Germline		 Chr2:227080487 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004566431
NM_033380.3(COL4A5):c.1312G>A (p.Gly438Ser) SNV
Germline		 ChrX:108591204 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004566444
NM_033380.3(COL4A5):c.4706G>C (p.Arg1569Pro) SNV
Germline		 ChrX:108692925 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004566447
NM_033380.3(COL4A5):c.4135G>A (p.Gly1379Arg) SNV
Germline		 ChrX:108681807 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004566448
NM_000092.5(COL4A4):c.1615G>A (p.Gly539Arg) SNV
Germline		 Chr2:227088661 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004566449
NM_000091.5(COL4A3):c.279+1G>C SNV
Germline		 Chr2:227244365 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555253
NM_033380.3(COL4A5):c.321+1G>C SNV
Germline		 ChrX:108568674 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555280
NM_033380.3(COL4A5):c.3356G>A (p.Gly1119Asp) SNV
Germline		 ChrX:108655440 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555287
NM_033380.3(COL4A5):c.1208G>C (p.Gly403Ala) SNV
Germline		 ChrX:108591100 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555294
NM_000091.5(COL4A3):c.2657-1G>C SNV
Germline		 Chr2:227283766 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555298
NM_000092.5(COL4A4):c.3560G>C (p.Gly1187Ala) SNV
Germline		 Chr2:227033427 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555303
NM_000092.5(COL4A4):c.676G>A (p.Gly226Arg) SNV
Germline		 Chr2:227108850 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555305
NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu) SNV
Germline		 Chr2:227283803 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555332
NM_000092.5(COL4A4):c.3836G>T (p.Gly1279Val) SNV
Germline		 Chr2:227030580 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555341
NM_000091.5(COL4A3):c.1373G>T (p.Gly458Val) SNV
Germline		 Chr2:227266474 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555342
NM_000092.5(COL4A4):c.1517G>A (p.Gly506Glu) SNV
Germline		 Chr2:227088759 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555394
NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu) SNV
Germline		 Chr2:227284328 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555411
NM_000092.5(COL4A4):c.1240G>C (p.Gly414Arg) SNV
Germline		 Chr2:227094254 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555412
NM_000092.5(COL4A4):c.2608G>A (p.Gly870Ser) SNV
Germline		 Chr2:227056053 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555462
NM_000092.5(COL4A4):c.3262G>A (p.Gly1088Ser) SNV
Germline		 Chr2:227047502 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555466
NM_033380.3(COL4A5):c.2041+1G>A SNV
Germline		 ChrX:108601486 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555467
NM_033380.3(COL4A5):c.2360G>A (p.Gly787Glu) SNV
Germline		 ChrX:108606857 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555474
NM_033380.3(COL4A5):c.2165G>T (p.Gly722Val) SNV
Germline		 ChrX:108602982 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555475
NM_033380.3(COL4A5):c.3595G>A (p.Gly1199Arg) SNV
Germline		 ChrX:108667174 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555483
NM_033380.3(COL4A5):c.2146+1G>C SNV
Germline		 ChrX:108601990 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555484
NM_033380.3(COL4A5):c.3329G>A (p.Gly1110Glu) SNV
Germline		 ChrX:108655413 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555486
NM_033380.3(COL4A5):c.3043G>A (p.Gly1015Arg) SNV
Germline		 ChrX:108625731 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555491
NM_000092.5(COL4A4):c.2698G>T (p.Gly900Cys) SNV
Germline		 Chr2:227055963 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555504
NM_033380.3(COL4A5):c.892G>T (p.Gly298Cys) SNV
Germline		 ChrX:108580983 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555730
NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg) SNV
Germline		 ChrX:108695357 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555732
NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg) SNV
Germline		 Chr2:227305083 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004555745
NM_000092.5(COL4A4):c.4192G>A (p.Gly1398Arg) SNV
Germline		 Chr2:227022072 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004556893
NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg) SNV
Germline		 Chr2:227266500 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004556952
NM_000091.5(COL4A3):c.317G>T (p.Gly106Val) SNV
Germline		 Chr2:227244988 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004556956
NM_000092.5(COL4A4):c.1987G>A (p.Gly663Ser) SNV
Unknown		 Chr2:227077894 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004557275
NM_033380.3(COL4A5):c.382A>T (p.Lys128Ter) SNV
Germline		 ChrX:108568819 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004577175
NM_000091.5(COL4A3):c.987G>A (p.Lys329=) SNV
Germline		 Chr2:227256396 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004578011