Total 2444 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_001174147.2(LMX1B):c.691C>T (p.Arg231Ter) SNV
Germline		 Chr9:126693273 Pathogenic/Likely pathogenic Nail-patella syndrome
Condition: not provided
Inborn genetic diseases
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254055 rs_121909490

6 SubmittersRCV000007421RCV000414681RCV004639120RCV006449352
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp) SNV
Germline		 ChrX:108665561 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA255260 rs_104886229

2 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

16 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 SubmittersRCV000018948RCV002513114RCV006255319
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
Hematuria, benign familial, 1
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127186 rs_121912860

11 SubmittersRCV000018949RCV000666567RCV000710841RCV004576907RCV005003386
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) SNV
Germline		 Chr2:227022135 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Alport syndrome
Kidney damage
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257919 rs_121912861

15 SubmittersRCV000018950RCV000681673RCV000787008RCV001251501RCV001328062RCV001526639RCV004528124RCV005025069
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
not specified
Alport syndrome
Condition: not provided
Kidney disorder
Inborn genetic diseases
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA257925 rs_121912863

13 SubmittersRCV000018952RCV000825912RCV001140736RCV001245590RCV002293986RCV004018643RCV004737159RCV005025070
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) SNV
Germline		 Chr2:227307898 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257967 rs_121912824

9 SubmittersRCV000019036RCV000760446RCV001273243RCV005003387RCV005867785
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) SNV
Germline		 Chr2:227309007 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA257970 rs_121912825

3 SubmittersRCV000019037RCV001851933
NM_000091.5(COL4A3):c.4929-388G>T SNV
Germline		 Chr2:227311398 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA539907209 rs_1325453230

2 SubmittersRCV000019040
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) SNV
Germline		 Chr2:227290062 Pathogenic/Likely pathogenic Benign familial hematuria
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127228 rs_121912826

4 SubmittersRCV000019041RCV001281227RCV006461180
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

6 SubmittersRCV000019042RCV000485138RCV000675182RCV001831587
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) SNV
Germline		 Chr2:227295044 Pathogenic Autosomal dominant Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257973 rs_267606745

8 SubmittersRCV000019044RCV000681815RCV000673273RCV001273241RCV005003388
NM_033380.3(COL4A5):c.81+1G>C SNV
Germline		 ChrX:108440207 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874765

1 SubmittersRCV005884458
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.90T>G (p.Tyr30Ter) SNV
Germline		 ChrX:108539754 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258207 rs_104886047

2 SubmittersRCV001381884RCV005042076
NM_033380.3(COL4A5):c.142G>A (p.Gly48Arg) SNV
Germline		 ChrX:108559064 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874669

1 SubmittersRCV004594831
NM_033380.3(COL4A5):c.385-1G>C SNV
Germline		 ChrX:108571412 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886395

1 SubmittersRCV005604034
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.386G>A (p.Gly129Glu) SNV
Germline		 ChrX:108571414 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874723

1 SubmittersRCV005882806
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
 CA258262 rs_281874755

1 SubmittersRCV002468840
NM_033380.3(COL4A5):c.546+1G>A SNV
Germline		 ChrX:108573655 Pathogenic/Likely pathogenic X-linked Alport syndrome
Inborn genetic diseases
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258265 rs_104886429

3 SubmittersRCV003335820RCV004978831RCV005931160
NM_033380.3(COL4A5):c.547-1G>A SNV
Germline		 ChrX:108575909 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA258268 rs_104886431

2 SubmittersRCV003389146RCV003553892
NM_033380.3(COL4A5):c.548G>T (p.Gly183Val) SNV
Germline		 ChrX:108575911 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886059

1 SubmittersRCV005048800
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) SNV
Germline		 ChrX:108575937 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258274 rs_104886060

3 SubmittersRCV000021169RCV005089294
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
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258285 rs_104886434

2 SubmittersRCV002468841RCV006471425
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) SNV
Germline		 ChrX:108577953 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
 CA258296 rs_104886066

2 SubmittersRCV003066362RCV003152810
NM_033380.3(COL4A5):c.687+1G>A SNV
Germline		 ChrX:108578120 Pathogenic X-linked Alport syndrome
Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258310 rs_104886440

3 SubmittersRCV000021190RCV001328299RCV005416322
NM_033380.3(COL4A5):c.689G>A (p.Gly230Asp) SNV
Germline		 ChrX:108578292 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258315 rs_281874763

2 SubmittersRCV001987576RCV005042570
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) SNV
Germline		 ChrX:108580548 Pathogenic X-linked Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258328 rs_104886071

7 SubmittersRCV000021203RCV000518117RCV001328292
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
 CA258341 rs_104886073

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

6 SubmittersRCV000021214RCV000516371RCV001328073
NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp) SNV
Germline		 ChrX:108581011 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258356 rs_104886082

3 SubmittersRCV000585404RCV004795935
NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp) SNV
Germline		 ChrX:108582903 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA258369 rs_104886086

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

9 SubmittersRCV000011205RCV000521446RCV004609294
NM_033380.3(COL4A5):c.992G>T (p.Gly331Val) SNV
Germline		 ChrX:108584485 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886092

1 SubmittersRCV005048806
NM_033380.3(COL4A5):c.1001G>T (p.Gly334Val) SNV
Germline		 ChrX:108584494 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258385 rs_104886093

2 SubmittersRCV001055650RCV006249356
NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu) SNV
Germline		 ChrX:108586676 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258397 rs_104886096

3 SubmittersRCV000021243RCV004783728
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) SNV
Germline		 ChrX:108586699 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 CA258404 rs_104886094

9 SubmittersRCV001207646RCV001831593RCV003421928
NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu) SNV
Germline		 ChrX:108591091 Likely pathogenic X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Single Submitter
 CA258420 rs_104886107

2 SubmittersRCV001807936RCV004749742
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
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258437 rs_104886101

7 SubmittersRCV001328297RCV002513158RCV003444195RCV003924852RCV004975263
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

12 SubmittersRCV000021272RCV000520914RCV003421929RCV004018651
NM_033380.3(COL4A5):c.1286G>A (p.Gly429Glu) SNV
Germline		 ChrX:108591178 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258453 rs_104886112

2 SubmittersRCV001038958RCV005252694
NM_033380.3(COL4A5):c.1340-2A>G SNV
Unknown		 ChrX:108591559 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258462 rs_104886319

1 SubmittersRCV003152907
NM_033380.3(COL4A5):c.1414G>A (p.Gly472Arg) SNV
Germline		 ChrX:108591635 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258474 rs_104886116

3 SubmittersRCV001387022RCV005042078
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) SNV
Germline		 ChrX:108591644 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
Germline		 ChrX:108595583 Pathogenic Alport syndrome
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 CA258488 rs_281874670

2 SubmittersRCV001328070RCV004593972
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
 CA258493 rs_104886122

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

3 SubmittersRCV000021311RCV001228281RCV001328298
NM_033380.3(COL4A5):c.1672G>C (p.Gly558Arg) SNV
Germline		 ChrX:108597461 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886129

1 SubmittersRCV005234236
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.1726G>A (p.Gly576Ser) SNV
Germline		 ChrX:108597515 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874675

1 SubmittersRCV005041489
NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu) SNV
Germline		 ChrX:108597525 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258532 rs_104886130

1 SubmittersRCV003143665
NM_033380.3(COL4A5):c.1780G>A (p.Gly594Ser) SNV
Germline		 ChrX:108598702 Pathogenic X-linked Alport syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_104886131

4 SubmittersRCV005041490RCV005937670
NM_033380.3(COL4A5):c.1808G>T (p.Gly603Val) SNV
Germline		 ChrX:108598730 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258549 rs_104886133

2 SubmittersRCV002280479RCV006252386
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) SNV
Germline		 ChrX:108598793 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided
Glomerulopathy
Hypertensive disorder
Mild proteinuria
Alport syndrome
COL4A5-related disorder
Monogenic hearing loss		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258560 rs_104886142

35 SubmittersRCV000021334RCV000324895RCV000414817RCV001328295RCV003904857RCV005888614
NM_033380.3(COL4A5):c.1886G>A (p.Gly629Asp) SNV
Germline		 ChrX:108598808 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258565 rs_104886144

3 SubmittersRCV003560280RCV005051342
NM_033380.3(COL4A5):c.1912G>A (p.Gly638Ser) SNV
Germline		 ChrX:108598834 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258573 rs_104886147

2 SubmittersRCV000021340RCV005638405
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.2023G>A (p.Gly675Ser) SNV
Germline		 ChrX:108601467 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258595 rs_104886157

5 SubmittersRCV002009677RCV004690230
NM_033380.3(COL4A5):c.2042-18A>G SNV
Germline		 ChrX:108601867 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886341

1 SubmittersRCV004595388
NM_033380.3(COL4A5):c.2147-2A>G SNV
Germline		 ChrX:108602962 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886344

1 SubmittersRCV004795588
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu) SNV
Germline		 ChrX:108602982 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 CA258630 rs_104886163

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

4 SubmittersRCV001588821RCV002476999RCV005888615
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.2332G>A (p.Gly778Ser) SNV
Germline		 ChrX:108606829 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258662 rs_104886174

3 SubmittersRCV000681866RCV005042079
NM_033380.3(COL4A5):c.2432G>T (p.Gly811Val) SNV
Germline		 ChrX:108614947 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258685 rs_104886183

2 SubmittersRCV001384772RCV004593973
NM_033380.3(COL4A5):c.2473G>T (p.Gly825Ter) SNV
Germline		 ChrX:108614988 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874692

1 SubmittersRCV006258358
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.2509G>A (p.Gly837Ser) SNV
Germline		 ChrX:108615024 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886185

1 SubmittersRCV005049251
NM_033380.3(COL4A5):c.2578G>C (p.Gly860Arg) SNV
Germline		 ChrX:108620327 Pathogenic COL4A5-related disorder
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 rs_281874697

2 SubmittersRCV004749399RCV005040774
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 X-linked Alport syndrome
Condition: not provided
Atypical hemolytic-uremic syndrome
Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258720 rs_104886189

15 SubmittersRCV000021422RCV000311568RCV001328145RCV001328141RCV001849275
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) SNV
Germline		 ChrX:108621817 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
COL4A5-related disorder
not specified
Lung cancer		 Criteria Provided
Conflicting Classifications
 CA258739 rs_104886192

12 SubmittersRCV000021433RCV000885639RCV001849276RCV003904858RCV004767014RCV005888623
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
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258751 rs_104886363

3 SubmittersRCV002283810RCV003395444RCV005096038
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.2999G>T (p.Gly1000Val) SNV
Germline		 ChrX:108624317 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 CA258787 rs_281874709

2 SubmittersRCV000021461
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

9 SubmittersRCV001387178RCV001563661RCV001849277RCV002288515
NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser) SNV
Germline		 ChrX:108626218 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258808 rs_104886214

2 SubmittersRCV003236663RCV005102496
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
 CA258819 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

4 SubmittersRCV000021482RCV000710872
NM_033380.3(COL4A5):c.3197G>C (p.Gly1066Ala) SNV
Germline		 ChrX:108626300 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886221

1 SubmittersRCV005041527
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) SNV
Germline		 ChrX:108626309 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

6 SubmittersRCV000021496RCV001387180
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) SNV
Germline		 ChrX:108655431 Pathogenic/Likely pathogenic X-linked Alport syndrome
COL4A5-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258859 rs_281874713

5 SubmittersRCV000021500RCV003892109RCV006461213
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
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258868 rs_104886388

3 SubmittersRCV001382249RCV003338386RCV006253677
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) SNV
Germline		 ChrX:108666540 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA258876 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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA258878 rs_104886237

15 SubmittersRCV000021517RCV001382251RCV003934847RCV004975264
NM_033380.3(COL4A5):c.3586G>A (p.Gly1196Arg) SNV
Germline		 ChrX:108667165 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258900 rs_104886244

3 SubmittersRCV000991632RCV005049384
NM_033380.3(COL4A5):c.3613G>A (p.Gly1205Ser) SNV
Germline		 ChrX:108668327 Pathogenic Condition: not provided
Alport syndrome 1		 Criteria Provided
Single Submitter
 CA258909 rs_104886245

2 SubmittersRCV001904750RCV005627439
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu) SNV
Germline		 ChrX:108668346 Likely pathogenic Alport syndrome
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 CA258914 rs_104886247

2 SubmittersRCV001328190RCV005867790
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.3686G>A (p.Gly1229Asp) SNV
Germline		 ChrX:108668400 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA258928 rs_104886253

3 SubmittersRCV003560291RCV005047693
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

5 SubmittersRCV000710877RCV002496435
NM_033380.3(COL4A5):c.3942G>C (p.Gln1314His) SNV
Germline		 ChrX:108677633 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874724

1 SubmittersRCV005041543
NM_033380.3(COL4A5):c.4024G>T (p.Gly1342Ter) SNV
Germline		 ChrX:108680893 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1556453243

1 SubmittersRCV004595357
NM_033380.3(COL4A5):c.4154G>T (p.Gly1385Val) SNV
Germline		 ChrX:108681826 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886269

1 SubmittersRCV004595395
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

9 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

6 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
 CA259027 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
 CA259040 rs_104886279

2 SubmittersRCV001959071RCV002484812
NM_033380.3(COL4A5):c.4519C>T (p.Gln1507Ter) SNV
Germline		 ChrX:108687685 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874741

1 SubmittersRCV005882508
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
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259087 rs_281874743

10 SubmittersRCV000021636RCV000518063RCV001375165RCV002293990RCV004609295
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

5 SubmittersRCV000021640RCV001047411
NM_033380.3(COL4A5):c.4717T>C (p.Cys1573Arg) SNV
Germline		 ChrX:108694817 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_104886288

1 SubmittersRCV005041564
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
 CA259099 rs_281874747

2 SubmittersRCV002013926RCV002498036
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) SNV
Germline		 ChrX:108694908 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA259117 rs_104886298

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

3 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

8 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
 CA033364 rs_144282156

7 SubmittersRCV000782218RCV001580476RCV003417844
NM_033380.3(COL4A5):c.438+2T>C SNV
Germline		 ChrX:108571468 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_281874738

1 SubmittersRCV004818912
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_033380.3(COL4A5):c.2678G>T (p.Gly893Val) SNV
Germline		 ChrX:108621803 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397515496

2 SubmittersRCV004796430RCV005105130
NM_000092.5(COL4A4):c.1030G>A (p.Gly344Arg) SNV
Germline		 Chr2:227099689 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter
 rs_267599231

1 SubmittersRCV004787207
NM_033380.3(COL4A5):c.637G>A (p.Gly213Arg) SNV
Unknown		 ChrX:108577979 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_267606310

1 SubmittersRCV005637625
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) SNV
Germline		 Chr2:227303867 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236124 rs_759739044

3 SubmittersRCV000171335RCV002485088
NM_033380.3(COL4A5):c.4016-1G>A SNV
Germline		 ChrX:108680884 Pathogenic/Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA276135 rs_797045035

2 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
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
COL4A4-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA352336 rs_370474706

8 SubmittersRCV000207754RCV001575369RCV001828044RCV005025340RCV004737333RCV006456846
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) SNV
Germline		 Chr2:227059468 Conflicting classifications of pathogenicity Myopia
Hypertensive disorder
Hematuria
Proteinuria
Hearing impairment
Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided
Benign familial hematuria
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA067692 rs_569681869

16 SubmittersRCV000626595RCV000665888RCV001328188RCV001782729RCV002247683RCV004796125
NM_000091.5(COL4A3):c.765G>T (p.Thr255=) SNV
Germline		 Chr2:227253638 Pathogenic/Likely pathogenic Benign familial hematuria
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA352360 rs_869025328

2 SubmittersRCV000207854RCV005025339
NM_000091.5(COL4A3):c.3490G>T (p.Gly1164Cys) SNV
Germline		 Chr2:227295035 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter
 rs_869025325

1 SubmittersRCV005868156
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
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA065270 rs_104886338

4 SubmittersRCV000207547RCV001384768RCV003417753RCV005893795
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

3 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 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147525 rs_760462252

3 SubmittersRCV000416721RCV004777620
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
Thrombocytopenia
Hyperkalemia
Stage 5 chronic kidney disease
Hypertensive disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144233 rs_200926310

9 SubmittersRCV000253035RCV000354468RCV000415134RCV001513577
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

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

13 SubmittersRCV000246589RCV000391251RCV001089910RCV000991620RCV001089933RCV002294112
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

15 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

14 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

7 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

12 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 dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
Alport syndrome 3b, autosomal recessive
Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10588923 rs_869025328

11 SubmittersRCV000256383RCV000735673RCV000764364RCV001859498RCV005869194RCV005632349RCV005025408
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) SNV
Germline		 Chr2:227273099 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2146782 rs_761686437

7 SubmittersRCV000256394RCV001029768RCV001859499RCV004786642RCV005025409
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
COL4A3-related disorder
Alport syndrome 3b, autosomal recessive
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2147699 rs_201697532

26 SubmittersRCV000283598RCV000516971RCV000677316RCV001141624RCV003401260RCV004549601RCV005355602RCV001536080RCV005025430RCV005625514
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.3770C>T (p.Pro1257Leu) SNV
Germline		 Chr2:227031992 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Inborn genetic diseases
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144424 rs_755884665

4 SubmittersRCV000380424RCV002521409RCV005540058RCV005869331
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
Condition: not provided
Autosomal recessive Alport syndrome
Inborn genetic diseases
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2144655 rs_79261248

5 SubmittersRCV000278671RCV000976456RCV001333200RCV005540059RCV004544625
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
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144794 rs_199562472

5 SubmittersRCV000305177RCV002521411RCV002521410RCV005003640
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
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145365 rs_200817090

5 SubmittersRCV000274626RCV001195569RCV001850809RCV005018696
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
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146592 rs_201031986

7 SubmittersRCV000324429RCV001029875RCV001559268RCV001580484RCV005027429
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=) SNV
Germline		 Chr2:227303100 Conflicting classifications of pathogenicity Alport syndrome
not specified
Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147392 rs_189574905

7 SubmittersRCV000385231RCV000825741RCV000944934RCV001276573
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=) SNV
Germline		 Chr2:227308918 Conflicting classifications of pathogenicity Alport syndrome
not specified
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147561 rs_181952966

6 SubmittersRCV000399705RCV000825742RCV000942296RCV001276578RCV001509570
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
Focal segmental glomerulosclerosis
Hematuria, benign familial, 1
not specified
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2144174 rs_201615111

10 SubmittersRCV000407621RCV001660696RCV002283476RCV002294291RCV005420150RCV006263885RCV006255643
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
COL4A3-related disorder
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146667 rs_200510532

10 SubmittersRCV000259762RCV000519515RCV003418049RCV003236582RCV004584688RCV005018697
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
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146789 rs_778034451

6 SubmittersRCV000348330RCV000681803RCV000761268RCV005027430
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
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147159 rs_200125890

3 SubmittersRCV000303559RCV000939249RCV005027431
NM_000091.5(COL4A3):c.3419-8T>G SNV
Germline		 Chr2:227294956 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2147245 rs_754483986

3 SubmittersRCV000354698RCV001503706RCV005431625
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) SNV
Germline		 Chr2:227310845 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA2147663 rs_756231749

5 SubmittersRCV000369300RCV000657998RCV001276580RCV002469133
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) SNV
Germline		 Chr2:227008149 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
Inborn genetic diseases
Autosomal recessive Alport syndrome
Condition: not provided
Meniere disease		 Criteria Provided
Conflicting Classifications
 CA2144098 rs_200973262

10 SubmittersRCV000342956RCV001029898RCV001265753RCV001330986RCV001770271RCV004567864
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
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2144186 rs_72969704

9 SubmittersRCV000299569RCV000825145RCV000899615RCV002521408RCV004737450
NM_000091.5(COL4A3):c.2489-8G>A SNV
Germline		 Chr2:227282357 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Kidney disorder		 Criteria Provided
Conflicting Classifications
 CA2146948 rs_201846272

6 SubmittersRCV000347162RCV000882702RCV001274587RCV002294297
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser) SNV
Germline		 Chr2:227290872 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147129 rs_377003650

5 SubmittersRCV000392593RCV002057673RCV005018698
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

9 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
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144806 rs_769363556

6 SubmittersRCV000265125RCV000825146RCV000889807
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

4 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
Uterine corpus endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA2145906 rs_201607115

7 SubmittersRCV000380561RCV000907824RCV001274065RCV003168506RCV003957724RCV005896115
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
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2145944 rs_373975901

8 SubmittersRCV000374898RCV000735745RCV001243798RCV005027428
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
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA2147367 rs_78980950

5 SubmittersRCV000275534RCV000894814RCV005540060RCV006452607
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) SNV
Germline		 Chr2:227303094 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2147389 rs_141552752

5 SubmittersRCV000328358RCV000925691RCV000825740
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala) SNV
Germline		 Chr2:227304091 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA10614687 rs_886055742

3 SubmittersRCV000379461RCV003236796RCV005027432
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
Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2147571 rs_200512461

12 SubmittersRCV000337893RCV000825316RCV000673190RCV001247514RCV001276579RCV005003641
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
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145664 rs_374815903

5 SubmittersRCV000408863RCV001251466RCV001320831RCV001833487RCV005018700
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) SNV
Germline		 Chr2:227277511 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
not specified
Condition: not provided
Kidney disorder
Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2146849 rs_200287952

19 SubmittersRCV000408794RCV001001294RCV001240936RCV002294326RCV002225103RCV003226288RCV002288979RCV003922661RCV005004140
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) SNV
Germline		 Chr2:227277543 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
not specified
Benign familial hematuria
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2146854 rs_201419174

4 SubmittersRCV000408874RCV003488579RCV002480260RCV006462572
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
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2146786 rs_200672668

10 SubmittersRCV000410611RCV000489873RCV001580284RCV005252872RCV004699171RCV005018703
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) SNV
Germline		 Chr2:227279882 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome		 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

9 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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2144773 rs_758199486

4 SubmittersRCV000449584RCV001764361RCV005540079
NM_000091.5(COL4A3):c.1900G>A (p.Gly634Arg) SNV
Germline		 Chr2:227273090 Likely pathogenic Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Single Submitter
 rs_1060499696

1 SubmittersRCV005018741
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
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2147669 rs_773905198

5 SubmittersRCV000449509RCV001375162RCV002063659RCV005027494
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
Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145259 rs_778832152

6 SubmittersRCV000766980RCV001835819RCV005004184
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys) SNV
Germline		 ChrX:108586625 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10488669 rs_377663039

5 SubmittersRCV000482469RCV001828496RCV005318401
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
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350868740 rs_1131691738

5 SubmittersRCV000493906RCV001328055RCV005004191
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

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

2 SubmittersRCV001851366RCV000496506
NM_033380.3(COL4A5):c.687+5G>A SNV
Germline		 ChrX:108578124 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 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.4333+3A>G SNV
Germline		 Chr2:227012178 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA645509119 rs_1455105815

5 SubmittersRCV000505683RCV004772948RCV005018867RCV005245501
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) SNV
Germline		 Chr2:227051038 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144637 rs_772699709

3 SubmittersRCV000505652RCV001857238RCV005027585
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) SNV
Germline		 Chr2:227055999 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Single Submitter
 CA350840920 rs_1363277825

2 SubmittersRCV000505643RCV005027587
NM_000092.5(COL4A4):c.594+1G>A SNV
Germline		 Chr2:227111677 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Benign familial hematuria
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860171 rs_1553690565

10 SubmittersRCV000505603RCV001857239RCV002289691RCV005027586RCV006255693
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.2696G>A (p.Gly899Asp) SNV
Germline		 ChrX:108621821 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413851918 rs_281874702

5 SubmittersRCV000710870RCV005049578
NM_033380.3(COL4A5):c.2821G>C (p.Gly941Arg) SNV
Germline		 ChrX:108622729 Likely pathogenic not specified
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413852720 rs_104886196

2 SubmittersRCV000506650RCV006452696
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 Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147702 rs_376550779

4 SubmittersRCV000673499RCV000514326RCV004787818
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) SNV
Germline		 Chr2:227007353 Conflicting classifications of pathogenicity not specified
Condition: not provided
COL4A4-related disorder
Hematuria, benign familial, 1
Inborn genetic diseases
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2143992 rs_368404711

11 SubmittersRCV000516925RCV000681727RCV004535675RCV004782418RCV005318413RCV005018880RCV006249645
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) SNV
Germline		 Chr2:227008067 Conflicting classifications of pathogenicity not specified
Alport syndrome
Condition: not provided
COL4A4-related disorder
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144076 rs_190148408

7 SubmittersRCV000517177RCV001834659RCV002510911RCV004535674RCV006255699
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

12 SubmittersRCV000518567RCV000835693RCV001139982RCV004535673
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val) SNV
Germline		 Chr2:227032028 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350837654 rs_1189502123

5 SubmittersRCV000516720RCV000984249RCV005001071
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) SNV
Germline		 Chr2:227089931 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Hematuria
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145175 rs_201859109

10 SubmittersRCV000518015RCV000984248RCV004787824RCV004796219RCV006254092RCV006605276
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) SNV
Germline		 Chr2:227098780 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2145272 rs_755649235

6 SubmittersRCV000516503RCV000665733RCV004535672RCV005027600RCV006255698
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) SNV
Germline		 Chr2:227099674 Pathogenic/Likely pathogenic Condition: not provided
Nephrotic syndrome
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145303 rs_534522842

7 SubmittersRCV000517925RCV001328133RCV001281284RCV005004209RCV004975608
NM_000092.5(COL4A4):c.871-1G>C SNV
Germline		 Chr2:227102849 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
COL4A4-related disorder
Autosomal recessive Alport syndrome
Benign familial hematuria
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145373 rs_375450996

7 SubmittersRCV000516946RCV000667558RCV004545780RCV006255700RCV006629159
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) SNV
Germline		 Chr2:227108846 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145498 rs_368248078

7 SubmittersRCV000518682RCV001089929RCV001141059
NM_000092.5(COL4A4):c.482G>T (p.Gly161Val) SNV
Germline		 Chr2:227118652 Likely pathogenic Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145656 rs_745672795

4 SubmittersRCV000517766RCV005018879RCV004787825
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
COL4A3-related disorder
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA66617434 rs_1014839148

9 SubmittersRCV000517824RCV001805130RCV001837945RCV004742478RCV005869566RCV005018878
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) SNV
Germline		 Chr2:227266473 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
COL4A3-related disorder
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146631 rs_757341933

7 SubmittersRCV000517256RCV000763078RCV004742476RCV005018876RCV005632438RCV005869565
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu) SNV
Germline		 Chr2:227279793 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847422 rs_1553759430

3 SubmittersRCV000516433RCV001281222RCV005018877
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) SNV
Germline		 Chr2:227280970 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
COL4A3-related disorder
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Alport syndrome
Benign familial hematuria
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66598974 rs_868002181

13 SubmittersRCV000517367RCV000668107RCV001849395RCV003419893RCV005027598RCV004787823RCV005625656RCV006275868
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter) SNV
Germline		 Chr2:227293230 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350857395 rs_1192750535

4 SubmittersRCV000517710RCV005027599
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) SNV
Germline		 Chr2:227297728 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860023 rs_1553764136

5 SubmittersRCV000518270RCV002496993RCV005632439RCV006550273
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter) SNV
Germline		 Chr2:227310839 Pathogenic/Likely pathogenic Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147660 rs_764046610

4 SubmittersRCV000517806RCV005004208RCV004742477
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) SNV
Germline		 Chr2:227310845 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147662 rs_756231749

7 SubmittersRCV000518704RCV000668781RCV001834658RCV002468584RCV002490880
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.3427G>T (p.Gly1143Cys) SNV
Germline		 ChrX:108665560 Pathogenic/Likely pathogenic Condition: not provided
COL4A5-related disorder
X-linked Alport syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413847304 rs_104886228

4 SubmittersRCV000516600RCV003409733RCV005044768RCV005901127
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

4 SubmittersRCV000516753RCV000952213RCV001391164
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) SNV
Germline		 Chr2:227052367 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria
Chronic kidney disease
Alport syndrome
COL4A4-related disorder
Inborn genetic diseases
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2144685 rs_35138315

20 SubmittersRCV000522361RCV000763076RCV001542734RCV001171331RCV001277168RCV002279957RCV005801815RCV005027605RCV006254094
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) SNV
Germline		 Chr2:227246738 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146090 rs_373559251

7 SubmittersRCV000519854RCV001272224RCV003419915RCV005431732RCV005004215
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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2146776 rs_139361545

9 SubmittersRCV000727017RCV001171326RCV001195565RCV001274582RCV003960238RCV004609422
NM_000091.5(COL4A3):c.3882+5G>A SNV
Germline		 Chr2:227298817 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658657247 rs_1553764454

6 SubmittersRCV000520022RCV001089908RCV005027613RCV005632451
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
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2147534 rs_200302125

29 SubmittersRCV000521759RCV000735744RCV000710822RCV000987047RCV001276575RCV001375164RCV003925556RCV005625665
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_006567.5(FARS2):c.919C>T (p.Arg307Ter) SNV
Germline		 Chr6:5545194 Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14
Condition: not provided
FARS2-related disorder
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3623835 rs_148620369

6 SubmittersRCV000527357RCV000598985RCV004579555RCV005861133
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) SNV
Germline		 Chr2:227263845 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66631792 rs_371334239

8 SubmittersRCV000589718RCV001046549RCV001272227RCV004722959RCV005027693
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
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
not specified
Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2147568 rs_201671013

11 SubmittersRCV000597276RCV000764366RCV000825318RCV000987048RCV001139014RCV005027704
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) SNV
Germline		 Chr2:227307752 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
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
Kidney disorder
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2147537 rs_199755408

9 SubmittersRCV000596969RCV000825738RCV001276576RCV001333197RCV002294354RCV003905552
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) SNV
Germline		 Chr2:227022079 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
not specified
COL4A4-related disorder		 Criteria Provided
Conflicting Classifications
 CA2144260 rs_55978207

6 SubmittersRCV000727472RCV001271497RCV005435050RCV004543387
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.4063G>A (p.Gly1355Arg) SNV
Germline		 Chr2:227027920 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350836964 rs_1553624029

4 SubmittersRCV000625557RCV003330845RCV004796255
NM_000092.5(COL4A4):c.2969-1G>C SNV
Germline		 Chr2:227051159 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Single Submitter
 CA350839305 rs_1553639043

2 SubmittersRCV000625686RCV006255752
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
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2146063 rs_778886174

9 SubmittersRCV000625594RCV000825317RCV001089905RCV001169840RCV001834978RCV001855319RCV004025283
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) SNV
Germline		 Chr2:227273045 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2146772 rs_773515249

8 SubmittersRCV000625624RCV000681773RCV001089917RCV001391170RCV005019037RCV004788040
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp) SNV
Germline		 Chr2:227283794 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder		 Criteria Provided
Single Submitter
 CA350851148 rs_1553760558

3 SubmittersRCV000625572RCV005019036RCV003935738
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) SNV
Germline		 Chr2:227290876 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2147131 rs_55849096

5 SubmittersRCV000625595RCV001756029RCV005027735RCV005801839
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
Condition: not provided		 Criteria Provided
Single Submitter
 CA413851389 rs_1556419831

2 SubmittersRCV000625687RCV005091821
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
Hearing impairment
Proteinuria
Myopia
Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144179 rs_533297350

14 SubmittersRCV000626596RCV000673767RCV001328187RCV001868162RCV002248830RCV004796256
NM_000092.5(COL4A4):c.4809+1G>A SNV
Unknown		 Chr2:227008017 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA351140428 rs_1553612309

1 SubmittersRCV000669861
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) SNV
Germline		 Chr2:227008228 Pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351140877 rs_369922627

4 SubmittersRCV000673399RCV000850092RCV002532147RCV005004350
NM_000092.5(COL4A4):c.4298G>A (p.Gly1433Asp) SNV
Germline		 Chr2:227012216 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350836450 rs_1553614863

2 SubmittersRCV000671292RCV005416389
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
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144642 rs_764323652

9 SubmittersRCV000673247RCV001089914RCV001868269RCV002468598RCV004737945RCV005027821RCV005357894
NM_000092.5(COL4A4):c.2546-1G>C SNV
Germline		 Chr2:227056116 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350841145 rs_1553641728

3 SubmittersRCV000669870RCV001861783RCV005027805
NM_000092.5(COL4A4):c.2374G>A (p.Gly792Arg) SNV
Germline		 Chr2:227059414 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2144827 rs_768003309

3 SubmittersRCV000672416RCV003558516RCV006249666
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
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Inborn genetic diseases
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144855 rs_762139460

10 SubmittersRCV000673217RCV001333199RCV001855593RCV004737944RCV005019154RCV005318477RCV005621997
NM_000092.5(COL4A4):c.2084G>A (p.Gly695Asp) SNV
Germline		 Chr2:227060216 Pathogenic Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350842419 rs_1553644402

3 SubmittersRCV000673938RCV004788105
NM_000092.5(COL4A4):c.5048G>A (p.Cys1683Tyr) SNV
Germline		 Chr2:227007350 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 1
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA351139905 rs_1386495377

5 SubmittersRCV000669331RCV001861775RCV004783836RCV004760690
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
 CA66544893 rs_954701825

4 SubmittersRCV000671388RCV001379395RCV006255775
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
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2143993 rs_766550724

7 SubmittersRCV000668165RCV000735753RCV002530738RCV005004332
NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys) SNV
Germline		 Chr2:227007369 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
X-linked Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2143995 rs_759631057

5 SubmittersRCV000665534RCV002532042RCV004596323RCV005004325
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) SNV
Germline		 Chr2:227088678 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350849686 rs_1553669704

3 SubmittersRCV000672440RCV005019147RCV006254133
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) SNV
Germline		 Chr2:227088697 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145127 rs_779930511

5 SubmittersRCV000670337RCV003558507RCV005019137RCV005632608
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter) SNV
Germline		 Chr2:227089922 Pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350850624 rs_926605269

3 SubmittersRCV000669401RCV001788315RCV002531228
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) SNV
Germline		 Chr2:227118724 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
not specified
Inborn genetic diseases
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA66575408 rs_377511303

6 SubmittersRCV000666252RCV001362304RCV001829833RCV002282300RCV004609482RCV005019109
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
 CA67238300 rs_891854419

3 SubmittersRCV000674209RCV001219761RCV006255777
NM_000092.5(COL4A4):c.4333+2T>C SNV
Germline		 Chr2:227012179 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2144207 rs_755927061

4 SubmittersRCV000672931RCV003236831RCV005019151
NM_000091.5(COL4A3):c.325-1G>A SNV
Unknown		 Chr2:227245953 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA2146053 rs_762518741

1 SubmittersRCV000665178
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) SNV
Germline		 Chr2:227247559 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2146140 rs_775373641

10 SubmittersRCV000666006RCV000786994RCV001052837RCV001272225RCV003945699RCV005019108
NM_000091.5(COL4A3):c.468+1G>T SNV
Germline		 Chr2:227247585 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350863270 rs_1553751122

3 SubmittersRCV000664871RCV005091920RCV005027774
NM_000092.5(COL4A4):c.4903C>T (p.Gln1635Ter) SNV
Germline		 Chr2:227007495 Likely pathogenic Autosomal recessive Alport syndrome
Alport syndrome		 No Assertion Criteria Provided
 CA351140215 rs_1553611947

2 SubmittersRCV000669796RCV005614433
NM_000092.5(COL4A4):c.4817G>A (p.Gly1606Glu) SNV
Germline		 Chr2:227007581 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144037 rs_767901025

4 SubmittersRCV000667621RCV002530717RCV005027790
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) SNV
Germline		 Chr2:227263924 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Hearing impairment
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2146596 rs_534253913

10 SubmittersRCV000665542RCV001136570RCV001280876RCV001362305RCV001375163RCV003155264RCV005540136
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
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350869638 rs_1553755124

6 SubmittersRCV000666899RCV001807646RCV001855469RCV005004329RCV006612453
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) SNV
Germline		 Chr2:227266455 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2146627 rs_772958162

6 SubmittersRCV000666502RCV000681919RCV001198699RCV005019110
NM_000091.5(COL4A3):c.2747-1G>C SNV
Germline		 Chr2:227284210 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350851599 rs_1196996393

4 SubmittersRCV000671366RCV001855558RCV003225951RCV005019142
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) SNV
Germline		 Chr2:227290008 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350854767 rs_1553762113

5 SubmittersRCV000667045RCV001226651RCV004796271
NM_000092.5(COL4A4):c.3983G>C (p.Gly1328Ala) SNV
Germline		 Chr2:227028000 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Single Submitter
 CA350837127 rs_1553624173

2 SubmittersRCV000664545RCV005019100
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) SNV
Germline		 Chr2:227294999 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350858790 rs_749383170

4 SubmittersRCV000672753RCV003558519RCV005027818
NM_000092.5(COL4A4):c.1715G>C (p.Gly572Ala) SNV
Germline		 Chr2:227080531 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847301 rs_1446915781

3 SubmittersRCV000672904RCV002531326RCV004788103
NM_000092.5(COL4A4):c.1029+2T>C SNV
Germline		 Chr2:227101502 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Single Submitter
 CA350855697 rs_1553682895

2 SubmittersRCV000673074RCV005027819
NM_000092.5(COL4A4):c.975+1G>C SNV
Unknown		 Chr2:227101864 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350856109 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
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350856103 rs_1553683192

5 SubmittersRCV000669774RCV001378999RCV001829860RCV005004338
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) SNV
Germline		 Chr2:227030449 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Inborn genetic diseases
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350837171 rs_1489351299

5 SubmittersRCV000673590RCV001855598RCV004026133RCV005019158RCV004788104
NM_000092.5(COL4A4):c.372+2T>G SNV
Unknown		 Chr2:227119893 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350862296 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
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66585193 rs_937550597

4 SubmittersRCV000665368RCV001855440RCV005004324RCV005801851
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
Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA2145933 rs_184730597

10 SubmittersRCV000669200RCV000681942RCV003313970RCV003117473RCV004788090RCV005027800
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
 CA2145270 rs_555143841

6 SubmittersRCV000673765RCV000825323RCV001277172RCV002464288RCV006255776
NM_000091.5(COL4A3):c.468+1G>A SNV
Unknown		 Chr2:227247585 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350863268 rs_1553751122

1 SubmittersRCV000671880
NM_000092.5(COL4A4):c.428G>T (p.Gly143Val) SNV
Germline		 Chr2:227118706 Likely pathogenic Autosomal recessive Alport syndrome
Diffuse mesangial sclerosis
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350861993 rs_1553695389

5 SubmittersRCV000673705RCV002284205RCV003558524RCV005019160RCV005632619
NM_000091.5(COL4A3):c.829-2A>C SNV
Germline		 Chr2:227254654 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350866110 rs_1553753119

2 SubmittersRCV000668638RCV001868224
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu) SNV
Germline		 Chr2:227256027 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350866902 rs_1422638161

2 SubmittersRCV000664514RCV004588087
NM_000092.5(COL4A4):c.328-1G>A SNV
Germline		 Chr2:227119940 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350862505 rs_754669149

3 SubmittersRCV000670811RCV004696974RCV005027807
NM_000092.5(COL4A4):c.114+1G>C SNV
Unknown		 Chr2:227144515 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350842641 rs_1553712110

1 SubmittersRCV000670500
NM_000091.5(COL4A3):c.1758+1G>A SNV
Germline		 Chr2:227270953 Likely pathogenic Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter
 CA350871976 rs_1553757096

2 SubmittersRCV000666005RCV005027782
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu) SNV
Germline		 Chr2:227164727 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350845868 rs_1396602090

4 SubmittersRCV000670747RCV001382714RCV004788095
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) SNV
Germline		 Chr2:227277493 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350846829 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
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350856138 rs_1553762314

5 SubmittersRCV000670389RCV001213668RCV005004342
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) SNV
Germline		 Chr2:227295017 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA66609052 rs_914878176

6 SubmittersRCV000672819RCV001328059RCV001250550RCV001868265
NM_000091.5(COL4A3):c.279+1G>A SNV
Germline		 Chr2:227244365 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145974 rs_202001097

3 SubmittersRCV000672721RCV002532134RCV005019148
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
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350861750 rs_1553750900

3 SubmittersRCV000668609RCV001060728RCV005004335
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) SNV
Germline		 Chr2:227246688 Pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350861757 rs_1346138010

5 SubmittersRCV000674775RCV000763077RCV001218262RCV001830467RCV005019165
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg) SNV
Germline		 Chr2:227248443 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146169 rs_764451365

6 SubmittersRCV000665296RCV000730376RCV002485524RCV004788086
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) SNV
Germline		 Chr2:227298759 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
not specified
focal and segmental glomerulosclerosis
COL4A3-related disorder
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA2147362 rs_190598500

23 SubmittersRCV000671820RCV000727653RCV001281229RCV001143340RCV002249398RCV002485556RCV003392513RCV003992367RCV005027812
NM_000091.5(COL4A3):c.3883-2A>G SNV
Germline		 Chr2:227303036 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350861977 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
Hematuria		 Criteria Provided
Conflicting Classifications
 CA2144563 rs_749299357

5 SubmittersRCV000666144RCV001855453RCV006261983
NM_000092.5(COL4A4):c.3151-2A>G SNV
Unknown		 Chr2:227050133 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350838921 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
Single Submitter
 CA350865425 rs_1553766404

2 SubmittersRCV000668666RCV002531204
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys) SNV
Germline		 Chr2:227267043 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350870337 rs_745472969

2 SubmittersRCV000673812RCV003489795
NM_000091.5(COL4A3):c.2765G>T (p.Gly922Val) SNV
Germline		 Chr2:227284229 Likely pathogenic Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Single Submitter
 CA350851721 rs_920413118

2 SubmittersRCV000674326RCV006249667
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) SNV
Germline		 Chr2:227051105 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2144646 rs_371172166

6 SubmittersRCV000667417RCV001861756RCV004527726RCV005027789
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
 CA2147115 rs_766900945

6 SubmittersRCV000669678RCV000735743RCV001861779
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) SNV
Germline		 Chr2:227310813 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147656 rs_752452590

9 SubmittersRCV000665574RCV000821858RCV005027778RCV005357888RCV005623079RCV006552664
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter) SNV
Germline		 Chr2:227290824 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350855754 rs_1553762279

2 SubmittersRCV000667832RCV001855489
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) SNV
Germline		 Chr2:227052395 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66581878 rs_769783985

7 SubmittersRCV000665227RCV000710842RCV001029878RCV004788085
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
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144707 rs_373540400

4 SubmittersRCV000673027RCV002221573RCV005004349
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
 CA2144796 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
 CA350857066 rs_1553762936

3 SubmittersRCV000674071RCV002532157
NM_000091.5(COL4A3):c.3751+1G>A SNV
Germline		 Chr2:227297860 Likely pathogenic Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA2147334 rs_781566652

3 SubmittersRCV000670997RCV001830450RCV001379464
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) SNV
Germline		 Chr2:227308922 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147563 rs_769863513

6 SubmittersRCV000670558RCV001861795RCV005004343RCV005250086RCV006552667
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter) SNV
Unknown		 Chr2:227310892 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350866431 rs_1351781261

1 SubmittersRCV000671855
NM_000092.5(COL4A4):c.1696+1G>A SNV
Germline		 Chr2:227082114 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
COL4A4-related disorder
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847529 rs_954701825

4 SubmittersRCV000671787RCV003660826RCV004737943RCV005004345
NM_000092.5(COL4A4):c.1369+1G>A SNV
Germline		 Chr2:227094124 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350851951 rs_1553676230

4 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
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350854993 rs_1553681714

5 SubmittersRCV000670823RCV001379767RCV001829867RCV003994075RCV005019141
NM_000092.5(COL4A4):c.657+1G>T SNV
Germline		 Chr2:227109223 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350859702 rs_1553688696

3 SubmittersRCV000669811RCV001228046RCV005019135
NM_000092.5(COL4A4):c.71G>A (p.Trp24Ter) SNV
Germline		 Chr2:227147413 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350842746 rs_1201925443

2 SubmittersRCV000670484RCV003669166
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr) SNV
Unknown		 Chr2:227164728 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350845870 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
Single Submitter
 CA350864095 rs_1553752199

2 SubmittersRCV000673983RCV003558527
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg) SNV
Germline		 Chr2:227270881 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350871825 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
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350845077 rs_1158937060

3 SubmittersRCV000673180RCV002532144RCV005019153
NM_000091.5(COL4A3):c.2223+1G>A SNV
Germline		 Chr2:227279891 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350848026 rs_1553759476

3 SubmittersRCV000671100RCV001861802RCV005027810
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) SNV
Germline		 Chr2:227308982 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66621122 rs_759873621

5 SubmittersRCV000667489RCV001066963RCV001328056RCV005004331
NM_000091.5(COL4A3):c.4756-1G>A SNV
Unknown		 Chr2:227310775 Likely pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350865945 rs_1553766735

1 SubmittersRCV000673520
NM_000091.5(COL4A3):c.4010G>A (p.Gly1337Glu) SNV
Germline		 Chr2:227303913 Likely pathogenic Condition: not provided
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter
 CA2147422 rs_779855573

2 SubmittersRCV000681686RCV005860127
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) SNV
Germline		 Chr2:227297700 Pathogenic/Likely pathogenic Condition: not provided
See cases
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66610381 rs_920061910

4 SubmittersRCV000681698RCV002252213RCV004788108
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg) SNV
Germline		 Chr2:227282523 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350850872 rs_1559897288

3 SubmittersRCV000681728RCV005019172
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg) SNV
Germline		 Chr2:227098790 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 CA350854336 rs_1559617617

2 SubmittersRCV000681778RCV004788110
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
Hematuria
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350866447 rs_1425230568

5 SubmittersRCV000681788RCV002507181RCV006254134RCV005622001
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp) SNV
Germline		 Chr2:227256362 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter
 CA350867215 rs_1559872489

2 SubmittersRCV000681798RCV005004360
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) SNV
Germline		 Chr2:227094271 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
COL4A4-related disorder
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA66554609 rs_1026613471

9 SubmittersRCV000681805RCV002512123RCV004535702RCV004788111RCV005004361
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu) SNV
Germline		 Chr2:227284274 Pathogenic/Likely pathogenic Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350852064 rs_1559899600

4 SubmittersRCV000681806RCV005019174
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
 CA350870432 rs_1559882199

4 SubmittersRCV000681808RCV003236588
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter) SNV
Germline		 Chr2:227008059 Pathogenic Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA351140524 rs_1559395617

2 SubmittersRCV004788112RCV000681827
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
 CA413847230 rs_1569505374

2 SubmittersRCV000681828RCV002485578
NM_000092.5(COL4A4):c.2545+2T>G SNV
Germline		 Chr2:227057437 Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350841151 rs_1559515075

3 SubmittersRCV000681834RCV006255778
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) SNV
Germline		 Chr2:227259859 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146520 rs_539765620

6 SubmittersRCV000681847RCV005021045RCV005431871
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
 CA413848729 rs_1569505771

6 SubmittersRCV000681871RCV000714319RCV003420207
NM_033380.3(COL4A5):c.2510-2A>G SNV
Germline		 ChrX:108620257 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10488937 rs_760109866

4 SubmittersRCV000681876RCV005046918
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) SNV
Germline		 Chr2:227263830 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350868774 rs_1559878824

4 SubmittersRCV000681888RCV005027839
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
 CA413923445 rs_104886074

3 SubmittersRCV000681889RCV002499206
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) SNV
Germline		 Chr2:227256035 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome
not specified
Benign familial hematuria
COL4A3-related disorder
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2146424 rs_772708743

17 SubmittersRCV000786971RCV000681901RCV001272226RCV001731883RCV002289956RCV003403579RCV005027840RCV005318478
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
 CA413924069 rs_1569490592

2 SubmittersRCV000681902RCV002485580
NM_000092.5(COL4A4):c.489+1G>A SNV
Germline		 Chr2:227118644 Pathogenic Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66575268 rs_1040287646

6 SubmittersRCV000681912RCV001829889RCV002512124RCV005004362RCV004527737
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) SNV
Germline		 ChrX:108573638 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA413921068 rs_1569489328

2 SubmittersRCV002499209RCV000681914
NM_033380.3(COL4A5):c.4315+1G>C SNV
Germline		 ChrX:108686130 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 CA413853849 rs_587776403

2 SubmittersRCV000681920RCV005046920
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg) SNV
Germline		 Chr2:227060208 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350842405 rs_1241404192

5 SubmittersRCV000681925RCV001277171RCV005021046
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg) SNV
Germline		 Chr2:227289230 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA2147063 rs_769683665

4 SubmittersRCV000681932RCV003447552RCV005021047
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
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350867528 rs_1559873550

5 SubmittersRCV000681935RCV001251195RCV002499210RCV004788113
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) SNV
Germline		 Chr2:227012226 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144217 rs_775926807

4 SubmittersRCV000710852RCV005021110RCV004788142
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) SNV
Germline		 Chr2:227033410 Conflicting classifications of pathogenicity Condition: not provided
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350837984 rs_1158350974

4 SubmittersRCV000710847RCV004527755RCV005021109
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) SNV
Germline		 Chr2:227043157 Conflicting classifications of pathogenicity Condition: not provided
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350838544 rs_1559482299

5 SubmittersRCV000710845RCV004737972RCV005021108
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys) SNV
Germline		 Chr2:227059618 Conflicting classifications of pathogenicity Alport syndrome
not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144867 rs_754398956

3 SubmittersRCV001825416RCV004997227RCV005004384
NM_000092.5(COL4A4):c.1697-1G>A SNV
Germline		 Chr2:227080550 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847377 rs_1559569975

4 SubmittersRCV000710832RCV006255808
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) SNV
Germline		 Chr2:227089886 Conflicting classifications of pathogenicity Condition: not provided
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145166 rs_181528936

8 SubmittersRCV000710831RCV004535760RCV005027883RCV005418320
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp) SNV
Germline		 Chr2:227104051 Conflicting classifications of pathogenicity Condition: not provided
not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350858469 rs_1559631986

3 SubmittersRCV000710860RCV004526020RCV005027884
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser) SNV
Germline		 Chr2:227282469 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA350850524 rs_1559897190

5 SubmittersRCV000710816RCV005027882RCV004723128
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
 CA2147599 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
 CA413849033 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
 CA413905868 rs_1569469409

1 SubmittersRCV002262191
NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser) SNV
Germline		 ChrX:108563912 Conflicting classifications of pathogenicity Condition: not provided
COL4A5-related disorder
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488403 rs_773883586

3 SubmittersRCV000941280RCV003965467RCV006605299
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
 CA413918484 rs_1569488426

3 SubmittersRCV001381886RCV002468603
NM_033380.3(COL4A5):c.384G>A (p.Lys128=) SNV
Germline		 ChrX:108568821 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569488434

2 SubmittersRCV004727288RCV005040758
NM_033380.3(COL4A5):c.384+1G>A SNV
Germline		 ChrX:108568822 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413918682 rs_1569488437

3 SubmittersRCV002267433RCV005042766RCV005930179
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser) SNV
Germline		 ChrX:108571440 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10488453 rs_767619131

4 SubmittersRCV001532703RCV005049669
NM_033380.3(COL4A5):c.698G>T (p.Gly233Val) SNV
Germline		 ChrX:108578301 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413924071 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
 CA413927026 rs_1556407064

2 SubmittersRCV001958672RCV002051997
NM_033380.3(COL4A5):c.936+1G>A SNV
Germline		 ChrX:108581028 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413927091 rs_1569491107

2 SubmittersRCV001379652RCV005046973
NM_033380.3(COL4A5):c.965G>T (p.Gly322Val) SNV
Germline		 ChrX:108582912 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569491399

2 SubmittersRCV005245570
NM_033380.3(COL4A5):c.991-1G>A SNV
Germline		 ChrX:108584483 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569491718

1 SubmittersRCV005049242
NM_033380.3(COL4A5):c.1009G>A (p.Gly337Ser) SNV
Germline		 ChrX:108584502 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 rs_1210495852

1 SubmittersRCV004794719
NM_033380.3(COL4A5):c.1166-1G>A SNV
Germline		 ChrX:108591057 Likely pathogenic Alport syndrome
Hematuria		 Criteria Provided
Single Submitter
 CA413932027 rs_1569492951

2 SubmittersRCV001328077RCV006254144
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
 CA413936064 rs_1569493670

2 SubmittersRCV003389145RCV003553891
NM_033380.3(COL4A5):c.1781G>A (p.Gly594Asp) SNV
Germline		 ChrX:108598703 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1569494267

2 SubmittersRCV005041491RCV005105341
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) SNV
Unknown		 ChrX:108598844 Likely pathogenic Alport syndrome No Assertion Criteria Provided
 CA413845878 rs_1569494378

1 SubmittersRCV001328076
NM_033380.3(COL4A5):c.1948G>A (p.Gly650Ser) SNV
Germline		 ChrX:108598870 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413845959 rs_1569494393

2 SubmittersRCV001384769RCV005870817
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) SNV
Germline		 ChrX:108603032 Conflicting classifications of pathogenicity not specified
Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 CA10488868 rs_104886164

7 SubmittersRCV000733962RCV000951685RCV000714314RCV003953260
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
 CA413847591 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
 CA413849708 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
 CA413851749 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
 CA413853156 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
Multiple Submitters
No Conflicts
 CA413854589 rs_1569498896

2 SubmittersRCV002283761
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) SNV
Germline		 ChrX:108668364 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413848506 rs_1569505758

1 SubmittersRCV002471916
NM_033380.3(COL4A5):c.3685G>T (p.Gly1229Cys) SNV
Germline		 ChrX:108668399 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569505771

1 SubmittersRCV006249477
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
 CA891843690 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
 CA414132603 rs_1569509257

1 SubmittersRCV000714432
NM_033380.3(COL4A5):c.4994+2T>C SNV
Germline		 ChrX:108695441 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569509371

1 SubmittersRCV005880570
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
 CA2145063 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
 CA2147359 rs_143380907

7 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
 CA2144003 rs_374119389

8 SubmittersRCV000735763RCV000825906RCV001137745RCV001540862RCV006255820
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) SNV
Germline		 Chr2:227030541 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA66559961 rs_971779449

4 SubmittersRCV000735720RCV002298753RCV005870836
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val) SNV
Germline		 Chr2:227032216 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA350837851 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
 CA350845249 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
 CA350845531 rs_1559563525

2 SubmittersRCV000735781RCV006255822
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
 CA350850490 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
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145180 rs_753659852

4 SubmittersRCV000735741RCV002536543RCV006255819
NM_000092.5(COL4A4):c.1030-1G>C SNV
Germline		 Chr2:227099690 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA350854987 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
 CA350856338 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
Inborn genetic diseases
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66568696 rs_923865420

6 SubmittersRCV000735768RCV001315778RCV002249448RCV005540160RCV005021144
NM_000092.5(COL4A4):c.693G>A (p.Lys231=) SNV
Germline		 Chr2:227108833 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA431502185 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
 CA350859865 rs_1559646395

2 SubmittersRCV000735719RCV006255818
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) SNV
Germline		 Chr2:227118659 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2145659 rs_760873029

3 SubmittersRCV000735656RCV002536542RCV006255815
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
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146058 rs_202147112

10 SubmittersRCV000735661RCV001089904RCV001813801RCV003411689RCV004760761RCV005029405RCV006257317
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) SNV
Germline		 Chr2:227257637 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
not specified
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146490 rs_200738124

7 SubmittersRCV000735662RCV001574377RCV004768626RCV005004397RCV004760762RCV006257318
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg) SNV
Germline		 Chr2:227276459 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA350846438 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
 CA350849122 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
 CA350857245 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
 CA413923010 rs_1569490379

1 SubmittersRCV000735739
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val) SNV
Germline		 ChrX:108577980 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413923235 rs_104886066

2 SubmittersRCV000735649
NM_033380.3(COL4A5):c.834+2T>G SNV
Germline		 ChrX:108580588 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413925906 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
 CA413845569 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
 CA413845727 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
 CA413851304 rs_1569497690

2 SubmittersRCV000735702RCV000825506
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu) SNV
Germline		 ChrX:108624281 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413853377 rs_1569498623

2 SubmittersRCV000735703
NM_033380.3(COL4A5):c.3247-1G>A SNV
Germline		 ChrX:108655330 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413857155 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
 CA413848235 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
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350845010 rs_1315862965

4 SubmittersRCV001869019RCV003396315RCV004547945RCV005897286
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
 CA413923015 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
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147314 rs_368434069

6 SubmittersRCV000760445RCV001199941RCV004742628RCV005029409RCV006552825
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) SNV
Germline		 Chr2:227297790 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860281 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
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147654 rs_766208466

4 SubmittersRCV000761225RCV002533862RCV003155307RCV005029412
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
 CA413935901 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
not specified
Nephrotic syndrome
Condition: not provided
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146338 rs_573527081

8 SubmittersRCV000770773RCV001731919RCV001328053RCV001855721RCV005870845RCV005029415
NM_000092.5(COL4A4):c.71+1G>A SNV
Germline		 Chr2:227147412 Pathogenic Benign familial hematuria
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350842743 rs_1559742015

3 SubmittersRCV000770975RCV002533980RCV005029423
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) SNV
Germline		 Chr2:227263848 Pathogenic/Likely pathogenic Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
COL4A3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350868814 rs_1559878862

6 SubmittersRCV002501014RCV002535651RCV003236589RCV004527804
NM_033380.3(COL4A5):c.2509+2T>G SNV
Germline		 ChrX:108615026 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413850280 rs_1569497030

1 SubmittersRCV000782361
NM_033380.3(COL4A5):c.1147G>C (p.Gly383Arg) SNV
Germline		 ChrX:108586729 Pathogenic Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413930948 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
 CA350854721 rs_1574803132

1 SubmittersRCV000786779
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser) SNV
Germline		 Chr2:227007540 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA351140316 rs_1271416659

5 SubmittersRCV000786869RCV003989602RCV006436899RCV006464233
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) SNV
Germline		 Chr2:227104033 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145435 rs_760795817

6 SubmittersRCV000786980RCV005004420RCV005861174RCV005092350RCV005252117
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) SNV
Germline		 Chr2:227118653 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145657 rs_755961411

6 SubmittersRCV000786897RCV001873205RCV003447563RCV005004419
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) SNV
Germline		 Chr2:227253598 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350865022 rs_1574699806

6 SubmittersRCV000787009RCV001281283RCV004723175RCV005029447
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
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350871528 rs_779575469

5 SubmittersRCV000786944RCV000995727RCV001856210RCV005021176RCV006249688
NM_000091.5(COL4A3):c.3266G>A (p.Gly1089Asp) SNV
Germline		 Chr2:227293246 Pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA350857514 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
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350859902 rs_1574823172

4 SubmittersRCV000787016RCV001391172RCV004540099RCV005029448
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg) SNV
Germline		 ChrX:108597497 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413845443 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
Multiple Submitters
No Conflicts
 CA413847299 rs_1603292422

3 SubmittersRCV000786939RCV001377446
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser) SNV
Germline		 ChrX:108620336 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA413851405 rs_1603297305

2 SubmittersRCV000787015RCV006612509
NM_033380.3(COL4A5):c.3319G>T (p.Gly1107Ter) SNV
Germline		 ChrX:108655403 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413857457 rs_104886225

1 SubmittersRCV000787025
NM_033380.3(COL4A5):c.3475C>T (p.Gln1159Ter) SNV
Germline		 ChrX:108666516 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA413847690 rs_1603310370

2 SubmittersRCV000786956RCV006629210
NM_033380.3(COL4A5):c.3481G>C (p.Gly1161Arg) SNV
Germline		 ChrX:108666522 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413847717 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
 CA413847718 rs_1603310380

2 SubmittersRCV000787006RCV002536887
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) SNV
Germline		 Chr2:227293237 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350857442 rs_1574813350

2 SubmittersRCV000790472RCV000853582RCV005029452
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) SNV
Unknown		 ChrX:108694904 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA334063046 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
 CA413920222 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
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144353 rs_200860702

5 SubmittersRCV000825149RCV001271498RCV001840737RCV005021262
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) SNV
Germline		 Chr2:227060156 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144937 rs_76636743

8 SubmittersRCV000991618RCV001140966RCV005021264
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
 CA2145107 rs_745815071

4 SubmittersRCV000825321RCV001138069RCV002536046
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) SNV
Germline		 Chr2:227295021 Conflicting classifications of pathogenicity not specified
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2147259 rs_145948549

5 SubmittersRCV000825665RCV000912182RCV001141509RCV001274591RCV003965608
NM_000091.5(COL4A3):c.-26G>T SNV
Germline		 Chr2:227164701 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145880 rs_747049729

2 SubmittersRCV001143022RCV000827311
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
 CA2145915 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
Gastric cancer
Ovarian serous cystadenocarcinoma
Lung cancer		 Criteria Provided
Conflicting Classifications
 CA66551540 rs_147186690

6 SubmittersRCV000843315RCV001138610RCV001838244RCV005905821RCV005905822RCV005905823
NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter) SNV
Germline		 Chr2:227240203 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA350859524 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
 CA350839031 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
 CA413849204 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
 CA2144264 rs_75398993

9 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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10488471 rs_773404950

5 SubmittersRCV000945860RCV001832190RCV004973189
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
 CA10489083 rs_146873772

6 SubmittersRCV000945652RCV001375302RCV001832189RCV002545992RCV003933234
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser) SNV
Germline		 ChrX:108694841 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10489416 rs_151130451

4 SubmittersRCV000952208RCV001832202
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
 CA10489105 rs_747614562

5 SubmittersRCV000964775RCV001089923
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg) SNV
Germline		 ChrX:108677614 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10489239 rs_104886399

4 SubmittersRCV000964652RCV001827048RCV005801958
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
 CA2144070 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
 CA2147441 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
 CA2144355 rs_201578201

7 SubmittersRCV000896120RCV001140097RCV001195314
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) SNV
Germline		 Chr2:227032200 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144462 rs_369708146

3 SubmittersRCV001140860RCV000902096
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
 CA2144635 rs_201962241

9 SubmittersRCV000909124RCV001142710RCV001288036
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) SNV
Germline		 Chr2:227051109 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Inborn genetic diseases
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2144649 rs_531161419

5 SubmittersRCV000900474RCV001830963RCV004028504RCV006256180
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) SNV
Germline		 Chr2:227078062 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A4-related disorder
Inborn genetic diseases
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145041 rs_75539253

7 SubmittersRCV000910255RCV001274055RCV004533487RCV005801932RCV006256187
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
 CA2145638 rs_545808060

5 SubmittersRCV000900475RCV001142916RCV004541884
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) SNV
Germline		 Chr2:227272980 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
COL4A3-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2146765 rs_781163705

8 SubmittersRCV000904280RCV001253067RCV001274581RCV003958192RCV004028543
NM_033380.3(COL4A5):c.1975A>G (p.Ile659Val) SNV
Germline		 ChrX:108601419 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488824 rs_201414732

3 SubmittersRCV000905486RCV003279148RCV005047146
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) SNV
Germline		 ChrX:108681789 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
X-linked Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10489295 rs_147447379

4 SubmittersRCV000909306RCV002542104RCV002495494RCV005236423
NM_000091.5(COL4A3):c.934-6C>A SNV
Germline		 Chr2:227256337 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2146444 rs_369438839

9 SubmittersRCV000899032RCV001274579RCV002502643RCV003975707RCV004973144
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
 CA2145364 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
 CA2146774 rs_771390525

4 SubmittersRCV000918655RCV001141394RCV001449655
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) SNV
Germline		 Chr2:227007451 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA67238237 rs_918428666

2 SubmittersRCV000944942RCV001137747
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) SNV
Germline		 Chr2:227147476 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145873 rs_201403066

5 SubmittersRCV000928067RCV001274064RCV005021277
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=) SNV
Germline		 Chr2:227270868 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146735 rs_762241502

3 SubmittersRCV000941845RCV001274580
NM_000091.5(COL4A3):c.3210+8G>A SNV
Germline		 Chr2:227290894 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Kidney disorder		 Criteria Provided
Conflicting Classifications
 CA2147139 rs_545181831

4 SubmittersRCV000943106RCV001827006RCV002294418
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
 CA2147335 rs_750554079

4 SubmittersRCV000930521RCV001141513RCV003978084
NM_000092.5(COL4A4):c.1370-5G>T SNV
Germline		 Chr2:227089962 Conflicting classifications of pathogenicity Condition: not provided
COL4A4-related disorder
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145183 rs_752509706

5 SubmittersRCV000932135RCV004543492RCV005021280RCV005870978
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
 CA10488986 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
 CA2144987 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
 CA2145076 rs_533957132

3 SubmittersRCV000976412RCV001138067
NM_033380.3(COL4A5):c.1876G>A (p.Gly626Ser) SNV
Germline		 ChrX:108598798 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488805 rs_747821323

2 SubmittersRCV000978272RCV005047154
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys) SNV
Germline		 ChrX:108606859 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488898 rs_762935451

3 SubmittersRCV000982036RCV001827109
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
 CA2146143 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
 CA915941768 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
 CA413918042 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
 CA413920006 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
 CA915951329 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
 CA413846811 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
 CA413849243 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
 CA414132638 rs_1603328372

1 SubmittersRCV000990930
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) SNV
Germline		 Chr2:227032019 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144429 rs_548799639

4 SubmittersRCV000991621RCV005021295
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) SNV
Germline		 Chr2:227057528 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350841342 rs_1576189036

3 SubmittersRCV000991619RCV005021294
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp) SNV
Germline		 Chr2:227297701 Pathogenic/Likely pathogenic Condition: not provided
COL4A3-related disorder
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147306 rs_755849032

5 SubmittersRCV000991614RCV003936250RCV005029549RCV005871055
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) SNV
Germline		 ChrX:108580548 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488571 rs_104886071

4 SubmittersRCV000991639RCV005055448
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) SNV
Germline		 ChrX:108626300 Pathogenic Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413855024 rs_104886221

4 SubmittersRCV000991631RCV002488085RCV004749578
NM_033380.3(COL4A5):c.3614G>A (p.Gly1205Asp) SNV
Germline		 ChrX:108668328 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413848361 rs_1556446493

3 SubmittersRCV000991633RCV005047168
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
 CA350850121 rs_1574782406

3 SubmittersRCV000991613RCV001089907
NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter) SNV
Germline		 ChrX:108687607 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413854399 rs_1603323278

2 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
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2146910 rs_747356302

6 SubmittersRCV000997690RCV001143241RCV001559320RCV001559319RCV002550713RCV004743246
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) SNV
Germline		 ChrX:108606812 Pathogenic/Likely pathogenic Condition: not provided
Isolated macular dystrophy
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413848967 rs_104886173

3 SubmittersRCV000995999RCV001199473RCV005871058
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) SNV
Germline		 Chr2:227164754 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350845978 rs_1453590085

3 SubmittersRCV000995722RCV001238070RCV005021304
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
 CA350861664 rs_750308686

2 SubmittersRCV000995723RCV001221432
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) SNV
Germline		 Chr2:227263812 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350868735 rs_1574727988

4 SubmittersRCV000995725RCV001238723RCV005411629
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) SNV
Germline		 Chr2:227263917 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350869500 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
 CA350844879 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
 CA350851498 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
 CA350851601 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
 CA413923292 rs_1603282474

1 SubmittersRCV000995519
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg) SNV
Germline		 ChrX:108582920 Pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA413927642 rs_104886088

2 SubmittersRCV000995729
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter) SNV
Germline		 ChrX:108591623 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413934817 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
 CA10488741 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
 CA413845372 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
 CA413845658 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
 CA413845846 rs_281874683

1 SubmittersRCV000995735
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser) SNV
Germline		 ChrX:108606811 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413848960 rs_1603293570

3 SubmittersRCV000995739RCV004597944
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg) SNV
Germline		 ChrX:108606856 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413849140 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
 CA413849203 rs_1603293624

1 SubmittersRCV000995741
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) SNV
Germline		 ChrX:108614980 Pathogenic/Likely pathogenic X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413850025 rs_1291655627

3 SubmittersRCV000995742RCV005912225
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val) SNV
Germline		 ChrX:108620355 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413851469 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
 CA413855023 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
 CA413849115 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
 CA413854584 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
 CA413926404 rs_104886078

1 SubmittersRCV001001195
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) SNV
Germline		 Chr2:227253330 Likely pathogenic Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864849 rs_1574698507

2 SubmittersRCV001002784RCV004789307
NM_033380.3(COL4A5):c.4316-1G>T SNV
Germline		 ChrX:108687481 Pathogenic X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413853906 rs_281874734

3 SubmittersRCV001002780RCV005912356
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
 CA350859868 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
 CA350846614 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
 CA2147315 rs_200443942

7 SubmittersRCV001007587RCV001141512RCV001248769RCV001702764
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) SNV
Germline		 Chr2:227010313 Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided
Meniere disease
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66541319 rs_1003748020

4 SubmittersRCV001029868RCV001862424RCV004570083RCV006454713
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) SNV
Germline		 Chr2:227094160 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA2145216 rs_548019779

8 SubmittersRCV001029983RCV001245318RCV001832366RCV004536056RCV005029576RCV005236541
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) SNV
Germline		 Chr2:227108593 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145480 rs_201673987

3 SubmittersRCV001029982RCV002552034RCV006256224
NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) SNV
Germline		 Chr2:227238022 Pathogenic Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA350858421 rs_1207493576

2 SubmittersRCV001029783RCV005056794
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) SNV
Germline		 Chr2:227248488 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
 CA2146181 rs_377575924

3 SubmittersRCV001029786RCV002479225RCV002552021
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp) SNV
Germline		 Chr2:227256380 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA2146451 rs_566993466

3 SubmittersRCV001029987RCV005029577RCV004526065
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) SNV
Germline		 Chr2:227263890 Likely pathogenic Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Single Submitter
 CA350869359 rs_1363441287

2 SubmittersRCV001029865RCV005633809
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
 CA2146599 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
 CA350871062 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
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350871338 rs_1574745989

4 SubmittersRCV001029977RCV001862430RCV005021338
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) SNV
Germline		 Chr2:227282460 Likely pathogenic Autosomal dominant Alport syndrome No Assertion Criteria Provided
 CA350850478 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
 CA350850621 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
 CA2147043 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
 CA2147123 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
 CA350859350 rs_1305836268

1 SubmittersRCV001029838
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) SNV
Germline		 Chr2:227310846 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350866161 rs_1380878336

4 SubmittersRCV001029796RCV004789365
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) SNV
Germline		 ChrX:108580551 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413925644 rs_1603283567

2 SubmittersRCV001029792
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg) SNV
Germline		 ChrX:108586711 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413930747 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
 CA413845902 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
 CA413851216 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
 CA413853199 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
 CA413854585 rs_1603298869

1 SubmittersRCV001029888
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
 CA413857358 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
 CA414132388 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
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144771 rs_533602128

4 SubmittersRCV001034409RCV001274050RCV005021340
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
COL4A4-related disorder
not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145299 rs_371717486

9 SubmittersRCV001040564RCV001274060RCV002551476RCV004570128RCV004738127RCV004800666RCV005021355RCV005051847
NM_000092.5(COL4A4):c.748C>T (p.Gln250Ter) SNV
Germline		 Chr2:227104040 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 CA350858443 rs_2060674137

2 SubmittersRCV001057692RCV005614487
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) SNV
Germline		 Chr2:227270863 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350871788 rs_1457269547

4 SubmittersRCV001039861RCV001536113RCV003336281RCV005029594
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu) SNV
Germline		 Chr2:227279856 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847793 rs_2071838155

2 SubmittersRCV001053817RCV005029623
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) SNV
Germline		 Chr2:227304036 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350862730 rs_2073401281

5 SubmittersRCV001069634RCV001833664RCV001089919RCV001281230RCV005029664
NM_033380.3(COL4A5):c.2614G>T (p.Gly872Cys) SNV
Germline		 ChrX:108620363 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413851496 rs_104886190

2 SubmittersRCV001048533RCV005001998
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
 CA413847352 rs_2068061224

2 SubmittersRCV001050800RCV001089924
NM_033380.3(COL4A5):c.4847C>A (p.Ser1616Ter) SNV
Germline		 ChrX:108695292 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA414132693 rs_750941179

2 SubmittersRCV001059687RCV005047264
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
 CA414132946 rs_2068718016

4 SubmittersRCV001066756RCV001391142
NM_000091.5(COL4A3):c.2375-2A>G SNV
Germline		 Chr2:227280891 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350849348 rs_2071916145

2 SubmittersRCV001039247RCV004789375
NM_033380.3(COL4A5):c.646-6C>G SNV
Germline		 ChrX:108578072 Conflicting classifications of pathogenicity Condition: not provided
COL4A5-related disorder
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA643749921 rs_200151467

4 SubmittersRCV001049858RCV003405251RCV005047245
NM_033380.3(COL4A5):c.2917+1G>A SNV
Germline		 ChrX:108622826 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413853085 rs_104886371

3 SubmittersRCV001078190RCV005093448
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
 CA2144479 rs_554736387

5 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
 CA350857738 rs_2060622881

1 SubmittersRCV001089911
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) SNV
Germline		 Chr2:227104033 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350858400 rs_760795817

6 SubmittersRCV001089930RCV002468621RCV005021437RCV005093452
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val) SNV
Germline		 Chr2:227279874 Likely pathogenic Autosomal dominant Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847909 rs_773317939

2 SubmittersRCV001089918RCV001862664
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val) SNV
Germline		 Chr2:227305066 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350863945 rs_2073446714

5 SubmittersRCV001089920RCV004796364RCV005029684RCV006465330
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser) SNV
Germline		 ChrX:108580712 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413926272 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
 CA413930686 rs_2066342176

6 SubmittersRCV001089921RCV001862665
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val) SNV
Germline		 ChrX:108598721 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413845640 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
 CA413847683 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
 CA413848399 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
 CA67237770 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
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2144014 rs_192411379

6 SubmittersRCV001139979RCV001559323RCV002556977RCV006256257
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
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144019 rs_200450557

6 SubmittersRCV001139980RCV001332184RCV002260686RCV005005055
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
 CA2144215 rs_536570392

3 SubmittersRCV001142603RCV002557035
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val) SNV
Germline		 Chr2:227032232 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144470 rs_780290586

3 SubmittersRCV001140861RCV001414527RCV005021479
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
 CA2144501 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
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA66586498 rs_760803228

4 SubmittersRCV001138385RCV003442211RCV005021477
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
 CA2145103 rs_371066387

5 SubmittersRCV001138068RCV001593288RCV006256256
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
 CA431502395 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
 CA431504667 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
 CA2145871 rs_199504524

3 SubmittersRCV001138182RCV001488954
NM_000091.5(COL4A3):c.-10C>T SNV
Germline		 Chr2:227164717 Conflicting classifications of pathogenicity Alport syndrome
not specified
Autosomal dominant Alport syndrome
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA2145882 rs_781380101

4 SubmittersRCV001143023RCV003490085RCV003991040RCV003938498
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
 CA431500512 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
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
not specified		 Criteria Provided
Conflicting Classifications
 CA2146180 rs_199514043

5 SubmittersRCV001138704RCV001843564RCV002482264RCV003155361
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
 CA2146328 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
 CA2146401 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
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146727 rs_772037798

4 SubmittersRCV001141391RCV001724254RCV002070696RCV005029710
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu) SNV
Germline		 Chr2:227272992 Conflicting classifications of pathogenicity Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2146768 rs_369567469

4 SubmittersRCV001141392RCV002505714RCV002559370RCV005318628
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
 CA2146934 rs_192027050

4 SubmittersRCV001143242RCV001517137
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr) SNV
Germline		 Chr2:227289155 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Inborn genetic diseases
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA2147057 rs_200801946

5 SubmittersRCV001136673RCV001415780RCV002556904RCV005029704
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=) SNV
Germline		 Chr2:227289187 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA2147058 rs_758181560

3 SubmittersRCV001136674RCV003574839RCV005056924
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
 CA2147610 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
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2147611 rs_574102153

4 SubmittersRCV001139017RCV001430168RCV005029707
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
 CA2144243 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
 CA66557672 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
 CA2144445 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
 CA66580702 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
 CA2144701 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
 CA765695428 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 dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2146075 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
 CA2146232 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
 CA1043065179 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
 CA2146393 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
 CA2146693 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
 CA2146720 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
not specified		 Criteria Provided
Conflicting Classifications
 CA2146857 rs_777353565

3 SubmittersRCV001143240RCV003727903RCV006455461
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
 CA2146968 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
 CA2147426 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
 CA350838181 rs_1559480099

3 SubmittersRCV001195695RCV001337907
NM_000092.5(COL4A4):c.1246C>G (p.Pro416Ala) SNV
Germline		 Chr2:227094248 Conflicting classifications of pathogenicity Glomerulonephritis
Inborn genetic diseases
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145229 rs_372841765

5 SubmittersRCV001195694RCV002559242RCV002559243RCV005005062
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
 CA2146172 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
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413924015 rs_281874763

4 SubmittersRCV001195700RCV001863094RCV004690006
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu) SNV
Germline		 ChrX:108591187 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter
 CA413933040 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
 CA413850012 rs_104886184

3 SubmittersRCV001195697RCV003558751
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg) SNV
Germline		 Chr2:227254665 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350866178 rs_2070035662

2 SubmittersRCV001197525RCV005029741
NM_033380.3(COL4A5):c.287G>T (p.Gly96Val) SNV
Unknown		 ChrX:108568639 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413917770 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
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA413847044 rs_1369565068

3 SubmittersRCV001199206RCV003163503RCV006465737
NM_033380.3(COL4A5):c.1033-1G>A SNV
Germline		 ChrX:108586614 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413929565 rs_2066339336

2 SubmittersRCV001198902RCV006465736
NM_000091.5(COL4A3):c.388-2A>G SNV
Germline		 Chr2:227246683 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350861746 rs_2069361375

3 SubmittersRCV001199933RCV002497681RCV003117842
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) SNV
Germline		 Chr2:227267034 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome
Hematuria
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146661 rs_777401300

9 SubmittersRCV001200643RCV002282478RCV003336330RCV005359927RCV006254203RCV005005066
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
 CA350850653 rs_2059821994

2 SubmittersRCV001219538RCV001264178
NM_033380.3(COL4A5):c.1138G>C (p.Gly380Arg) SNV
Germline		 ChrX:108586720 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413930847 rs_2066342908

2 SubmittersRCV001220941RCV004594252
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val) SNV
Germline		 Chr2:227290810 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350855670 rs_2072649241

2 SubmittersRCV001208756RCV002497715
NM_033380.3(COL4A5):c.1949G>A (p.Gly650Asp) SNV
Germline		 ChrX:108601393 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413846631 rs_2066625021

2 SubmittersRCV001208762RCV004789475
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg) SNV
Germline		 Chr2:227269945 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA350871257 rs_2071142257

4 SubmittersRCV001238354RCV001828901RCV005014290RCV006372337
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala) SNV
Germline		 ChrX:108568666 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413917959 rs_1569488381

3 SubmittersRCV003398990RCV001232695
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) SNV
Germline		 Chr2:227030483 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350837253 rs_1433065763

5 SubmittersRCV001241289RCV001835097RCV006256320RCV006256321
NM_000092.5(COL4A4):c.3196G>C (p.Gly1066Arg) SNV
Germline		 Chr2:227050086 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350838825 rs_1333536476

3 SubmittersRCV001239837RCV001828942RCV005014293
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) SNV
Germline		 Chr2:227056044 Pathogenic Condition: not provided
Benign familial hematuria
Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66585148 rs_929684384

4 SubmittersRCV001245688RCV001251470RCV001829964RCV005029832
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
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145693 rs_766085522

5 SubmittersRCV001245812RCV001829969RCV002568634RCV005029833
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
 CA413851575 rs_104886199

3 SubmittersRCV001244092RCV001328075RCV002491816
NM_000091.5(COL4A3):c.3566-2A>G SNV
Germline		 Chr2:227297672 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 CA66610365 rs_1055753755

2 SubmittersRCV001242109RCV005614502
NM_033380.3(COL4A5):c.385-2A>T SNV
Germline		 ChrX:108571411 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413919705 rs_2066062676

2 SubmittersRCV001240882RCV005040081
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp) SNV
Germline		 ChrX:108601411 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 CA413846701 rs_2066625376

2 SubmittersRCV001271107
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter) SNV
Germline		 Chr2:227010409 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350836175 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
 CA350836333 rs_1963420059

1 SubmittersRCV001281125
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys) SNV
Germline		 Chr2:227032166 Likely pathogenic Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350837755 rs_781360383

2 SubmittersRCV001281123RCV005634001
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg) SNV
Germline		 Chr2:227032235 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350837891 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
 CA350838023 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
 CA350838807 rs_1973758214

1 SubmittersRCV001281291
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) SNV
Germline		 Chr2:227052365 Pathogenic Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2144683 rs_372413045

3 SubmittersRCV001281290RCV005029845RCV005639299
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val) SNV
Germline		 Chr2:227077929 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350845160 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
 CA350852254 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
 CA350859145 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
 CA350861562 rs_2061397001

1 SubmittersRCV001281128
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) SNV
Germline		 Chr2:227121148 Likely pathogenic Benign familial hematuria
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350863536 rs_776036994

3 SubmittersRCV001281287RCV004538531RCV005005126
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys) SNV
Germline		 Chr2:227251140 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350863674 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
 CA2146847 rs_761780956

1 SubmittersRCV001281221
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala) SNV
Germline		 Chr2:227279820 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA350847552 rs_267599232

2 SubmittersRCV001281223RCV005419053
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg) SNV
Germline		 Chr2:227280491 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350849079 rs_2071886531

2 SubmittersRCV001301864RCV001281224
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu) SNV
Germline		 Chr2:227280908 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350849390 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
 CA350865778 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
Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147704 rs_759583948

4 SubmittersRCV001281281RCV001836251RCV001316984
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp) SNV
Germline		 ChrX:108582930 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413927758 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
 CA413932557 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
 CA413845563 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
 CA413845695 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
 CA413851709 rs_2067018186

1 SubmittersRCV001281179
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg) SNV
Germline		 ChrX:108655457 Likely pathogenic X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413857658 rs_2067822565

2 SubmittersRCV001281181RCV005909210
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
 CA413847776 rs_2068084185

2 SubmittersRCV001281182RCV001380690
NM_000092.5(COL4A4):c.4334-23A>G SNV
Germline		 Chr2:227010524 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA1139657741 rs_766501515

6 SubmittersRCV001281124RCV001879803RCV005014305RCV006249729
NM_000092.5(COL4A4):c.735+2T>C SNV
Germline		 Chr2:227108579 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Nonpapillary renal cell carcinoma
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350859119 rs_2060993180

5 SubmittersRCV001281132RCV001290438RCV005029843RCV005909207RCV005909208
NM_000092.5(COL4A4):c.559-2A>C SNV
Germline		 Chr2:227111715 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860385 rs_766243664

2 SubmittersRCV001281130RCV005094190
NM_000092.5(COL4A4):c.558+1G>A SNV
Germline		 Chr2:227114627 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350861202 rs_2061393783

1 SubmittersRCV001281129
NM_033380.3(COL4A5):c.141+1G>A SNV
Germline		 ChrX:108539806 Pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA413908936 rs_2065509989

2 SubmittersRCV001281134
NM_033380.3(COL4A5):c.232-2A>G SNV
Germline		 ChrX:108563880 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413916397 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
 CA413920571 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
 CA413920578 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
 CA413921167 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
 CA1139667749 rs_2068567564

2 SubmittersRCV001281232
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) SNV
Germline		 Chr2:227059476 Conflicting classifications of pathogenicity Benign familial hematuria
Condition: not provided
COL4A4-related disorder
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA2144838 rs_781660254

8 SubmittersRCV001251502RCV001879826RCV004738221RCV006256331RCV005634002RCV006453607
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
 CA413917805 rs_2066011417

2 SubmittersRCV001251465RCV003660873
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter) SNV
Germline		 ChrX:108578091 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413923574 rs_2066183255

1 SubmittersRCV001251494
NM_033380.3(COL4A5):c.1225G>A (p.Gly409Ser) SNV
Germline		 ChrX:108591117 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 CA413932449 rs_2066425550

3 SubmittersRCV001251478
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp) SNV
Unknown		 ChrX:108606830 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413849039 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
 CA413850061 rs_281874692

3 SubmittersRCV001251459RCV003660872
NM_033380.3(COL4A5):c.3704G>T (p.Gly1235Val) SNV
Germline		 ChrX:108668418 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413848843 rs_2068130178

2 SubmittersRCV001252965RCV002508300
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter) SNV
Germline		 ChrX:108695383 Pathogenic Alport syndrome Criteria Provided
Single Submitter
 CA414132888 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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10489123 rs_771538814

5 SubmittersRCV001253065RCV001550519RCV003448914RCV004609714
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter) SNV
Germline		 Chr2:227077960 Pathogenic/Likely pathogenic Benign familial hematuria
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145018 rs_778345125

4 SubmittersRCV001254146RCV002568738RCV004796390RCV005866900
NM_000091.5(COL4A3):c.2126-1G>C SNV
Germline		 Chr2:227279792 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350847416 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
 CA2144932 rs_200759521

5 SubmittersRCV001262385RCV001586098RCV001830063
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter) SNV
Unknown		 Chr2:227012190 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350836393 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
 CA350837252 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
 CA350838009 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
 CA350838248 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
 CA350838480 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
 CA350838679 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
 CA350838763 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
 CA350839101 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
 CA350839192 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
 CA350839254 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
 CA350841040 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
 CA350842311 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
 CA350845119 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
 CA350847592 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
 CA350855726 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
 CA350855945 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
 CA350856304 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
 CA350863321 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
 CA350859063 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
 CA350860821 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
 CA2146484 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
 CA350868749 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
 CA350868804 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
 CA350870225 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
 CA350871212 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
 CA350871617 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
 CA66637964 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
 CA350844930 rs_773515249

1 SubmittersRCV001264370
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter) SNV
Germline		 Chr2:227279864 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847850 rs_2071839316

2 SubmittersRCV001264371RCV006557284
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter) SNV
Unknown		 Chr2:227282466 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350850509 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
 CA350850660 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
 CA350852248 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
 CA350854414 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
 CA350855943 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
 CA350858532 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
 CA350858551 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
 CA350858560 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
 CA350859421 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
 CA350862264 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
 CA350862699 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
 CA350862764 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
 CA350864139 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
 CA350864981 rs_2073628823

1 SubmittersRCV001263885
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter) SNV
Germline		 Chr2:227309002 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350865167 rs_2073630720

2 SubmittersRCV001263886RCV005094260
NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter) SNV
Unknown		 ChrX:108559104 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413914424 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
 CA413920328 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
 CA413920865 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
 CA413924365 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
 CA413930211 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
 CA413932251 rs_2066424636

1 SubmittersRCV001263612
NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter) SNV
Unknown		 ChrX:108591599 Likely pathogenic X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413934580 rs_2066435557

2 SubmittersRCV001263613RCV005909291
NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter) SNV
Unknown		 ChrX:108606889 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413849231 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
 CA413849819 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
 CA413851653 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
 CA413852314 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
Single Submitter
 CA413853197 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
 CA413853272 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
 CA413853305 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
 CA413853572 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
 CA413854543 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
 CA413854930 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
 CA413855116 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
 CA413857255 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
 CA413847854 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
 CA413848382 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
 CA413851103 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
 CA413853818 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
 CA334061644 rs_104886293

3 SubmittersRCV001264072RCV001388175
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser) SNV
Germline		 Chr2:227282373 Conflicting classifications of pathogenicity Inborn genetic diseases
not specified
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA350850140 rs_2072039168

3 SubmittersRCV001266706RCV004526823RCV005014320
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) SNV
Germline		 Chr2:227307805 Pathogenic Inborn genetic diseases
Condition: not provided
Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864298 rs_1189607438

4 SubmittersRCV001266707RCV001386469RCV001830069RCV005005129
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly) SNV
Germline		 Chr2:227022066 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2144254 rs_749483911

3 SubmittersRCV001328183RCV001880187RCV005318698
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) SNV
Germline		 Chr2:227054702 Pathogenic/Likely pathogenic Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Inborn genetic diseases
COL4A4-related disorder
Thyroid cancer, nonmedullary, 1
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2144722 rs_372606845

9 SubmittersRCV001328134RCV001810012RCV001880182RCV004035434RCV004738225RCV005909316RCV004796401
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) SNV
Germline		 Chr2:227082159 Likely pathogenic Nephrotic syndrome
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847820 rs_2059360185

3 SubmittersRCV001328132RCV003994250RCV005005133
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) SNV
Germline		 Chr2:227267052 Likely pathogenic Alport syndrome
COL4A3-related disorder
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350870354 rs_1256505387

3 SubmittersRCV001328060RCV003399042RCV005005131
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) SNV
Germline		 ChrX:108597006 Pathogenic/Likely pathogenic X-linked Alport syndrome
Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413845056 rs_754223700

6 SubmittersRCV001780226RCV001328079RCV001880181
NM_033380.3(COL4A5):c.2042-2A>C SNV
Unknown		 ChrX:108601883 Likely pathogenic Alport syndrome No Assertion Criteria Provided
 CA413846887 rs_2066636714

1 SubmittersRCV001328139
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu) SNV
Germline		 ChrX:108601972 Likely pathogenic Alport syndrome
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 CA413847070 rs_2066640120

2 SubmittersRCV001328142RCV005040113
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala) SNV
Unknown		 ChrX:108621803 Pathogenic Alport syndrome No Assertion Criteria Provided
 CA413851841 rs_397515496

1 SubmittersRCV001328144
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg) SNV
Unknown		 ChrX:108655394 Pathogenic Alport syndrome No Assertion Criteria Provided
 CA413857422 rs_1569504072

1 SubmittersRCV001328071
NM_033380.3(COL4A5):c.3374-1G>A SNV
Unknown		 ChrX:108665506 Pathogenic Alport syndrome No Assertion Criteria Provided
 CA413847117 rs_2068058963

1 SubmittersRCV001328184
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter) SNV
Unknown		 ChrX:108667135 Pathogenic Alport syndrome No Assertion Criteria Provided
 CA413848016 rs_1381117009

1 SubmittersRCV001328296
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter) SNV
Unknown		 ChrX:108677574 Pathogenic Alport syndrome No Assertion Criteria Provided
 CA413850436 rs_2068330799

1 SubmittersRCV001328143
NM_033380.3(COL4A5):c.3942+2T>C SNV
Unknown		 ChrX:108677635 Pathogenic Alport syndrome No Assertion Criteria Provided
 CA413850928 rs_2068333361

1 SubmittersRCV001328068
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His) SNV
Unknown		 ChrX:108694869 Pathogenic Alport syndrome No Assertion Criteria Provided
 CA414132513 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
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2145738 rs_762682812

4 SubmittersRCV001278689RCV001317669RCV006256339
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His) SNV
Germline		 Chr2:227298694 Conflicting classifications of pathogenicity Alport syndrome
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147347 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
 CA2144064 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
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350841501 rs_200814061

4 SubmittersRCV001280847RCV001315071RCV005014328
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) SNV
Germline		 Chr2:227089903 Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350850487 rs_1559594442

3 SubmittersRCV001280848RCV003442821RCV006256340
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) SNV
Germline		 Chr2:227108598 Likely pathogenic Benign familial hematuria
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350859241 rs_2060994526

3 SubmittersRCV001280874RCV006256341RCV006249736
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val) SNV
Germline		 ChrX:108667133 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413848011 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
 CA350863884 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
 CA431663464 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
 CA413849711 rs_886041509

2 SubmittersRCV001288040RCV002493513
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) SNV
Germline		 ChrX:108695336 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA334063315 rs_865842167

4 SubmittersRCV001288043RCV005318703RCV002504417
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
 CA413853907 rs_281874735

3 SubmittersRCV001290541RCV001377048
NM_000092.5(COL4A4):c.3679G>A (p.Gly1227Arg) SNV
Germline		 Chr2:227032175 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350837777 rs_1968570122

2 SubmittersRCV001303827RCV005634036
NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp) SNV
Germline		 Chr2:227060243 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350842476 rs_1156323870

3 SubmittersRCV001302756RCV001835456RCV005014371
NM_000092.5(COL4A4):c.871-6T>C SNV
Germline		 Chr2:227102854 Conflicting classifications of pathogenicity Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145374 rs_749753913

4 SubmittersRCV001830159RCV004004984RCV001299288
NM_000092.5(COL4A4):c.192G>A (p.Arg64=) SNV
Germline		 Chr2:227140161 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145768 rs_748152418

4 SubmittersRCV001295502RCV001830126RCV005014348
NM_000091.5(COL4A3):c.1229G>A (p.Gly410Glu) SNV
Germline		 Chr2:227263858 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350868834 rs_1350342816

2 SubmittersRCV001305868RCV005866932
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) SNV
Germline		 Chr2:227008289 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA351141018 rs_1962651394

3 SubmittersRCV001316354RCV005005164
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) SNV
Germline		 Chr2:227060177 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144941 rs_759828394

4 SubmittersRCV001325971RCV001831013RCV005014427
NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe) SNV
Germline		 Chr2:227088805 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145147 rs_777805216

3 SubmittersRCV001315658RCV001836294RCV006256359
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu) SNV
Germline		 Chr2:227290792 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350855589 rs_2072647561

3 SubmittersRCV001321650RCV001835617RCV005014415
NM_000092.5(COL4A4):c.3214+1G>T SNV
Germline		 Chr2:227050067 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2144608 rs_747167770

3 SubmittersRCV001330984RCV004727155RCV005014440
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) SNV
Germline		 Chr2:227270873 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder		 Criteria Provided
Conflicting Classifications
 CA350871811 rs_2071193842

5 SubmittersRCV001330979RCV003311978RCV004789528RCV004813166RCV005225379
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
 CA413853719 rs_2068539626

4 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
 CA2145402 rs_371904688

5 SubmittersRCV001333201RCV002546616
NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val) SNV
Germline		 Chr2:227022173 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144277 rs_770364064

3 SubmittersRCV001347530RCV001831134RCV005014464
NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu) SNV
Germline		 Chr2:227042219 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Meniere disease
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350838295 rs_1260916310

4 SubmittersRCV001343800RCV001831101RCV004570825RCV005014457
NM_000092.5(COL4A4):c.1098A>G (p.Lys366=) SNV
Germline		 Chr2:227099621 Conflicting classifications of pathogenicity Condition: not provided
Microscopic hematuria
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA431500862 rs_1305609812

5 SubmittersRCV001341796RCV001580294RCV004727166RCV005005187
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) SNV
Germline		 Chr2:227103144 Pathogenic Condition: not provided
Alport syndrome
COL4A4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA431501246 rs_2060620860

4 SubmittersRCV001338956RCV001831050RCV004531129
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) SNV
Germline		 Chr2:227259802 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146510 rs_765336013

3 SubmittersRCV001352559RCV002476620
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu) SNV
Germline		 Chr2:227276433 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350846311 rs_2071568063

2 SubmittersRCV001345510RCV005023067
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) SNV
Germline		 Chr2:227309227 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Osteogenesis imperfecta
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147603 rs_369575989

9 SubmittersRCV001348296RCV001831140RCV004743417RCV005023072RCV005863426RCV006605337
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
 CA413845793 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
 CA413849029 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
 CA350857349 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
 CA413923698 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
 CA350860670 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
 CA413920761 rs_2147759208

3 SubmittersRCV001362323RCV001391160
NM_000091.5(COL4A3):c.2881+1G>A SNV
Germline		 Chr2:227284346 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350852596 rs_1559899827

4 SubmittersRCV001377049RCV001726512RCV004789553
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu) SNV
Germline		 Chr2:227293282 Conflicting classifications of pathogenicity Hearing impairment
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2147176 rs_560592940

3 SubmittersRCV001375284RCV004690098RCV005023117
NM_000092.5(COL4A4):c.3214+1G>A SNV
Germline		 Chr2:227050067 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350838785 rs_747167770

2 SubmittersRCV001379732RCV005005231
NM_000092.5(COL4A4):c.559-2A>G SNV
Germline		 Chr2:227111715 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860383 rs_766243664

5 SubmittersRCV001378041RCV001831350RCV004531188RCV005005227
NM_000092.5(COL4A4):c.193-2A>C SNV
Germline		 Chr2:227121150 Pathogenic/Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350863545 rs_2125038490

3 SubmittersRCV001378541RCV002468634RCV005023126
NM_000091.5(COL4A3):c.279+1G>T SNV
Germline		 Chr2:227244365 Likely pathogenic Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860720 rs_202001097

3 SubmittersRCV001377659RCV005023122
NM_000091.5(COL4A3):c.687+1G>T SNV
Germline		 Chr2:227253338 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350864864 rs_2069903710

2 SubmittersRCV001379128RCV005225393
NM_000091.5(COL4A3):c.888+1G>A SNV
Germline		 Chr2:227254716 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 CA350866574 rs_2125936534

2 SubmittersRCV001379917RCV005614532
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
 CA413913910 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
 CA413923223 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
 CA413925819 rs_2147776175

3 SubmittersRCV001377840RCV002476716RCV003416299
NM_033380.3(COL4A5):c.1370G>A (p.Gly457Asp) SNV
Germline		 ChrX:108591591 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413934470 rs_2147798012

2 SubmittersRCV001378229RCV005050364
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
 CA413846888 rs_2066636714

2 SubmittersRCV001377703RCV002493916
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) SNV
Germline		 ChrX:108624316 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413853607 rs_2067110688

5 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
 CA413854841 rs_104886212

3 SubmittersRCV001377845RCV002499779
NM_033380.3(COL4A5):c.3347G>A (p.Gly1116Glu) SNV
Germline		 ChrX:108655431 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413857567 rs_281874713

2 SubmittersRCV001377810RCV005040237
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
 CA413847400 rs_2147953060

2 SubmittersRCV001377942RCV002488195
NM_033380.3(COL4A5):c.3640G>A (p.Gly1214Arg) SNV
Germline		 ChrX:108668354 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413848463 rs_2147959120

2 SubmittersRCV001378715RCV005040240
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
 CA413850832 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
 CA413850853 rs_1327176357

3 SubmittersRCV001377383RCV003331141
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) SNV
Germline		 Chr2:227007445 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
Inborn genetic diseases
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351140108 rs_1408907127

7 SubmittersRCV001389027RCV004789567RCV004037699RCV005005241RCV005408885
NM_000091.5(COL4A3):c.1111C>T (p.Gln371Ter) SNV
Germline		 Chr2:227259874 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Single Submitter
 CA350868506 rs_2125956727

2 SubmittersRCV001384279RCV005635139
NM_000091.5(COL4A3):c.2638G>T (p.Gly880Ter) SNV
Germline		 Chr2:227282514 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 CA350850813 rs_2106164697

2 SubmittersRCV001383297RCV005614536
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) SNV
Germline		 ChrX:108580721 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413926389 rs_104886073

5 SubmittersRCV001390504RCV005040269
NM_033380.3(COL4A5):c.1808G>A (p.Gly603Asp) SNV
Germline		 ChrX:108598730 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413845661 rs_104886133

3 SubmittersRCV001391011RCV005867012
NM_033380.3(COL4A5):c.1862G>A (p.Gly621Asp) SNV
Germline		 ChrX:108598784 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413845765 rs_1569494322

2 SubmittersRCV001385797RCV005867000
NM_033380.3(COL4A5):c.4528+2T>C SNV
Germline		 ChrX:108687696 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413854840 rs_2147991737

2 SubmittersRCV001380645RCV005040246
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
 CA414132376 rs_1569508998

2 SubmittersRCV001387032RCV002504648
NM_033380.3(COL4A5):c.4706+2T>C SNV
Germline		 ChrX:108692927 Pathogenic Condition: not provided
X-linked Alport syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA414132378 rs_2147998807

3 SubmittersRCV001386223RCV001391159RCV005912646
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu) SNV
Germline		 Chr2:227054728 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA350840386 rs_2150221180

2 SubmittersRCV001391123
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg) SNV
Germline		 Chr2:227253570 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350864893 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
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350844952 rs_2125996486

4 SubmittersRCV001391171RCV001871997RCV003458035RCV005014551
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
 CA350849047 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
 CA350860984 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
 CA413918096 rs_104886375

1 SubmittersRCV001391165
NM_033380.3(COL4A5):c.439-1G>A SNV
Germline		 ChrX:108571810 Pathogenic X-linked Alport syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA413920305 rs_2147754967

2 SubmittersRCV001391143RCV005912661
NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu) SNV
Germline		 ChrX:108573647 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413921110 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
 CA413923680 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
 CA413927358 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
 CA413929549 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
 CA413935902 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
 CA413845781 rs_104886142

3 SubmittersRCV001391149RCV001871996
NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys) SNV
Germline		 ChrX:108598852 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA413845895 rs_2147813821

2 SubmittersRCV001391156
NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser) SNV
Germline		 ChrX:108601989 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413847104 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
 CA2499226318 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
 CA413857427 rs_104886224

2 SubmittersRCV001391167
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter) SNV
Germline		 ChrX:108668384 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413848619 rs_1290001124

2 SubmittersRCV001391162RCV006466901
NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val) SNV
Germline		 ChrX:108670228 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413849255 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
Multiple Submitters
No Conflicts
 CA413850092 rs_2147974808

2 SubmittersRCV001391169
NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg) SNV
Germline		 ChrX:108687694 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413854830 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
 CA414132550 rs_2148001657

1 SubmittersRCV001391166
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile) SNV
Germline		 Chr2:227293235 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2147166 rs_374427586

6 SubmittersRCV001419389RCV004980462RCV005361603RCV005023160
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser) SNV
Germline		 Chr2:227297690 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA2147303 rs_761347389

5 SubmittersRCV001404734RCV002499863RCV005318790RCV006453673
NM_000091.5(COL4A3):c.3672A>G (p.Pro1224=) SNV
Germline		 Chr2:227297780 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2147322 rs_768260547

2 SubmittersRCV001402480RCV005023156
NM_000091.5(COL4A3):c.4028-15T>C SNV
Germline		 Chr2:227304004 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147434 rs_764478470

3 SubmittersRCV001396871RCV002499839
NM_033380.3(COL4A5):c.3838C>T (p.Leu1280Phe) SNV
Germline		 ChrX:108677529 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10489233 rs_146223261

2 SubmittersRCV001396793RCV005040275
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) SNV
Germline		 Chr2:227056032 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144756 rs_55948916

4 SubmittersRCV001442689RCV003485717RCV005023167
NM_000092.5(COL4A4):c.1369+10T>G SNV
Germline		 Chr2:227094115 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2499215705 rs_2060083691

2 SubmittersRCV001444068RCV005023168
NM_033380.3(COL4A5):c.2505A>G (p.Gln835=) SNV
Germline		 ChrX:108615020 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA517923781 rs_1383769505

2 SubmittersRCV001445124RCV005050379
NM_033380.3(COL4A5):c.3114G>A (p.Gln1038=) SNV
Germline		 ChrX:108626217 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA517925579 rs_2067151262

2 SubmittersRCV001432987RCV005040282
NM_000092.5(COL4A4):c.1987+8T>A SNV
Germline		 Chr2:227077886 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2145012 rs_780277266

3 SubmittersRCV001476497RCV005867054RCV006256878
NM_000092.5(COL4A4):c.303A>T (p.Gly101=) SNV
Germline		 Chr2:227121038 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA431504787 rs_1450052915

3 SubmittersRCV001459694RCV005014571
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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10488896 rs_747288279

6 SubmittersRCV001458210RCV002495654RCV003416347RCV005320807
NM_000091.5(COL4A3):c.1515C>T (p.Gly505=) SNV
Germline		 Chr2:227269920 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA2146696 rs_200416402

3 SubmittersRCV001483843RCV005023171
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn) SNV
Germline		 Chr2:227283772 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146987 rs_376762135

5 SubmittersRCV001489753RCV004980550RCV005361627
NM_033380.3(COL4A5):c.990G>T (p.Lys330Asn) SNV
Germline		 ChrX:108582937 Conflicting classifications of pathogenicity Condition: not provided
COL4A5-related disorder
X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Conflicting Classifications
 CA413927812 rs_1351189637

4 SubmittersRCV001505110RCV004749706RCV005040295RCV005912924
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) SNV
Germline		 ChrX:108580990 Conflicting classifications of pathogenicity Condition: not provided
Disease of glomerular basement membrane
X-linked Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10488617 rs_375377003

4 SubmittersRCV001521261RCV001849518RCV005040304RCV004770166
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
 CA10488808 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
 CA350850585 rs_2072046668

1 SubmittersRCV001533419
NM_000092.5(COL4A4):c.3973+1G>T SNV
Germline		 Chr2:227030442 Likely pathogenic Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350837154 rs_755478262

2 SubmittersRCV001873797RCV006256897
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg) SNV
Germline		 Chr2:227042202 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA66569424 rs_899227425

3 SubmittersRCV001873802RCV006256900
NM_000092.5(COL4A4):c.3289+1G>C SNV
Germline		 Chr2:227047474 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter
 CA350838611 rs_1973128133

1 SubmittersRCV005023186RCV006256901
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) SNV
Germline		 Chr2:227051113 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2144650 rs_769138971

5 SubmittersRCV001574540RCV001836442RCV005867155RCV005023185RCV006256894
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val) SNV
Germline		 Chr2:227088732 Conflicting classifications of pathogenicity not specified
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350849900 rs_2150595484

2 SubmittersRCV004770168RCV006256896
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val) SNV
Germline		 Chr2:227109267 Conflicting classifications of pathogenicity Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA350859828 rs_2061040474

2 SubmittersRCV005005253RCV005094747
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val) SNV
Germline		 Chr2:227253306 Conflicting classifications of pathogenicity Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA350864800 rs_2069900248

2 SubmittersRCV001535907RCV005094746
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu) SNV
Germline		 Chr2:227277476 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA350846737 rs_2106132144

2 SubmittersRCV001535940RCV001873798
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) SNV
Germline		 Chr2:227297791 Likely pathogenic Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860285 rs_1183958961

3 SubmittersRCV001535999RCV002568227RCV003346606
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp) SNV
Unknown		 ChrX:108539755 Likely pathogenic X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA413908501 rs_2147657533

2 SubmittersRCV001535977RCV005914518RCV005914517
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg) SNV
Unknown		 ChrX:108568804 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413918485 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
 CA413932460 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
 CA413854312 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
 CA413854932 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
 CA413853940 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
 CA413928933 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
 CA413853853 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
 CA350858954 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
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144556 rs_778458961

4 SubmittersRCV001552631RCV001832756RCV005014586
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=) SNV
Germline		 Chr2:227297699 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA431507169 rs_753945261

2 SubmittersRCV001559270RCV001559269RCV002072116
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=) SNV
Germline		 Chr2:227307843 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA431508950 rs_2073573869

2 SubmittersRCV001559322RCV001559321RCV003771710
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser) SNV
Germline		 Chr2:227253561 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864874 rs_2125932297

4 SubmittersRCV001570144RCV002476872RCV005635180
NM_000091.5(COL4A3):c.583G>A (p.Gly195Ser) SNV
Germline		 Chr2:227251176 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter
 CA350863843 rs_2125924619

2 SubmittersRCV001578276RCV005861245
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) SNV
Germline		 Chr2:227098753 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145268 rs_751952236

3 SubmittersRCV001588282RCV005005264
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
 CA2146787 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
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350858411 rs_2060673883

3 SubmittersRCV001706769RCV001868397RCV005014616
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val) SNV
Germline		 Chr2:227279802 Likely pathogenic Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350847476 rs_2071832975

2 SubmittersRCV001726707RCV004785293
NM_033380.3(COL4A5):c.228A>T (p.Gln76His) SNV
Unknown		 ChrX:108559150 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413914933 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
 CA413853436 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
 CA414133027 rs_2148003624

2 SubmittersRCV001733371RCV002032730
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys) SNV
Germline		 Chr2:227310948 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA350866687 rs_2106295155

2 SubmittersRCV001756672RCV005023221
NM_000092.5(COL4A4):c.1987+1G>A SNV
Germline		 Chr2:227077893 Likely pathogenic Benign familial hematuria
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350845084 rs_2150474860

2 SubmittersRCV001754542RCV005014635
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser) SNV
Germline		 Chr2:227267043 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA2146665 rs_745472969

4 SubmittersRCV001765712RCV004576995RCV005014636
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
 CA2145779 rs_753016038

3 SubmittersRCV001769123RCV006256914
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter) SNV
Germline		 Chr2:227088745 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350849942 rs_2150595867

2 SubmittersRCV001780552RCV006256917
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
 CA413846983 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
 CA413926301 rs_104886450

3 SubmittersRCV001780555RCV002034544
NM_000091.5(COL4A3):c.441+2T>C SNV
Germline		 Chr2:227246740 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350861864 rs_2125911950

3 SubmittersRCV001780824RCV006550535
NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr) SNV
Germline		 ChrX:108687611 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 CA413854437 rs_1569508382

3 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
 CA413850042 rs_2147974770

2 SubmittersRCV001780829RCV003718424
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu) SNV
Germline		 Chr2:227279835 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146880 rs_201198284

5 SubmittersRCV001787511RCV004611877RCV005237990RCV005014664
NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg) SNV
Unknown		 ChrX:108666594 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter
 CA413847936 rs_1353480777

1 SubmittersRCV001795866
NM_033380.3(COL4A5):c.936+2T>C SNV
Germline		 ChrX:108581029 Pathogenic Alport syndrome Criteria Provided
Single Submitter
 CA413927122 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
 CA413848834 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
 CA350852768 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
 CA350866521 rs_2125936494

1 SubmittersRCV001801297
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu) SNV
Germline		 Chr2:227303859 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA350862351 rs_1178734829

2 SubmittersRCV001806494RCV005023262
NM_000092.5(COL4A4):c.1967A>G (p.Asp656Gly) SNV
Germline		 Chr2:227077914 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350845131 rs_1387537859

1 SubmittersRCV001807901
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
 CA350854601 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
 CA350850480 rs_1574782666

1 SubmittersRCV001808156
NM_033380.3(COL4A5):c.2440G>A (p.Gly814Arg) SNV
Germline		 ChrX:108614955 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413849905 rs_2147849915

2 SubmittersRCV001808173RCV006616577
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp) SNV
Germline		 Chr2:227282374 Conflicting classifications of pathogenicity Benign familial hematuria
Condition: not provided
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146949 rs_779489401

5 SubmittersRCV001808182RCV005095217RCV004699479RCV005014673
NM_033380.3(COL4A5):c.1090C>T (p.Pro364Ser) SNV
Germline		 ChrX:108586672 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413930380 rs_2147788213

1 SubmittersRCV001808858
NM_000092.5(COL4A4):c.2869G>A (p.Gly957Arg) SNV
Germline		 Chr2:227052404 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350839552 rs_1402343399

3 SubmittersRCV005023265RCV005095218RCV005868373
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val) SNV
Germline		 ChrX:108582885 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 CA413927364 rs_2147781020

2 SubmittersRCV001814741
NM_033380.3(COL4A5):c.4788G>A (p.Trp1596Ter) SNV
Germline		 ChrX:108694888 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA414132553 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
 CA413847770 rs_104886237

1 SubmittersRCV001837585
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val) SNV
Germline		 Chr2:227022113 Conflicting classifications of pathogenicity Benign familial hematuria
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144267 rs_199911379

4 SubmittersRCV001837594RCV002077323RCV005023272
NM_033380.3(COL4A5):c.3106+1G>A SNV
Germline		 ChrX:108625795 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413854803 rs_2147872358

1 SubmittersRCV001837595
NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter) SNV
Germline		 Chr2:227008107 Pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351140625 rs_2149720690

3 SubmittersRCV002034702RCV001837596RCV004785332
NM_033380.3(COL4A5):c.3554-2A>G SNV
Germline		 ChrX:108667131 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413848000 rs_2147956337

1 SubmittersRCV001837604
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu) SNV
Germline		 Chr2:227118703 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145666 rs_368884003

3 SubmittersRCV001837700RCV006256925
NM_212482.4(FN1):c.833C>G (p.Thr278Ser) SNV
Germline		 Chr2:215428191 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2095468 rs_368428323

3 SubmittersRCV001838830RCV001869848RCV005564922
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) SNV
Germline		 ChrX:108694909 Pathogenic Alport syndrome
X-linked Alport syndrome		 Criteria Provided
Single Submitter
 CA414132597 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
 CA413849715 rs_2147849728

1 SubmittersRCV001849658
NM_033380.3(COL4A5):c.1423+1G>T SNV
Germline		 ChrX:108591645 Pathogenic Autosomal dominant Alport syndrome
Condition: not provided
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413935020 rs_104886312

3 SubmittersRCV001849660RCV002543432RCV005922800
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
 CA413926601 rs_104886451

2 SubmittersRCV002004462RCV002507678
NM_000091.5(COL4A3):c.3070+1G>A SNV
Germline		 Chr2:227290089 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350855300 rs_2106206598

2 SubmittersRCV002507739RCV002014881
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) SNV
Germline		 Chr2:227282383 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
not specified		 Criteria Provided
Conflicting Classifications
 CA350850160 rs_2072040353

5 SubmittersRCV001962647RCV005016894RCV006266977
NM_000092.5(COL4A4):c.1241G>A (p.Gly414Asp) SNV
Germline		 Chr2:227094253 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350852767 rs_2150687507

2 SubmittersRCV001920597RCV005016819
NM_000092.5(COL4A4):c.1553G>A (p.Gly518Glu) SNV
Germline		 Chr2:227088723 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350849874 rs_564334744

2 SubmittersRCV002027983RCV005025675
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
 CA413857561 rs_2147935344

3 SubmittersRCV001919048RCV002490269
NM_000091.5(COL4A3):c.688-1G>A SNV
Germline		 Chr2:227253560 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864871 rs_2069929443

2 SubmittersRCV001989575RCV005864615
NM_000091.5(COL4A3):c.2224-2A>G SNV
Germline		 Chr2:227280438 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350848884 rs_1246102682

2 SubmittersRCV001979425RCV004785421
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter) SNV
Germline		 Chr2:227309207 Pathogenic/Likely pathogenic Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350865466 rs_1574842143

2 SubmittersRCV001869979RCV005023304
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser) SNV
Germline		 Chr2:227164751 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA66565436 rs_890999119

4 SubmittersRCV001881491RCV005005336RCV004975776
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) SNV
Germline		 Chr2:227261099 Pathogenic/Likely pathogenic Condition: not provided
COL4A3-related disorder
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350868617 rs_2125961933

4 SubmittersRCV001967866RCV003407985RCV004785404RCV005023499
NM_000091.5(COL4A3):c.1114+1G>A SNV
Germline		 Chr2:227259878 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350868528 rs_1286895614

3 SubmittersRCV002028537RCV002497998RCV006558261
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys) SNV
Germline		 Chr2:227103197 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA350857859 rs_762043158

4 SubmittersRCV002028427RCV005017034RCV005542665
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met) SNV
Germline		 Chr2:227244345 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2145968 rs_377136253

3 SubmittersRCV001904832RCV005005314RCV005542499
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg) SNV
Germline		 ChrX:108597024 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413845095 rs_2147809070

2 SubmittersRCV001907909RCV002506928
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser) SNV
Germline		 ChrX:108581010 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413926949 rs_2147777425

3 SubmittersRCV002028076RCV002498077
NM_033380.3(COL4A5):c.3686G>C (p.Gly1229Ala) SNV
Germline		 ChrX:108668400 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413848739 rs_104886253

2 SubmittersRCV005401886RCV001964118
NM_000091.5(COL4A3):c.766-5G>A SNV
Germline		 Chr2:227254107 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
COL4A3-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA2146364 rs_751236477

4 SubmittersRCV002482515RCV001932282RCV003948780RCV005923892
NM_033380.3(COL4A5):c.511G>A (p.Gly171Ser) SNV
Germline		 ChrX:108573619 Conflicting classifications of pathogenicity Condition: not provided
not specified
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA413920954 rs_1556404027

3 SubmittersRCV001963996RCV005406243RCV005868506
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys) SNV
Germline		 Chr2:227253296 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350864769 rs_1169752185

2 SubmittersRCV001996232RCV005017045
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp) SNV
Germline		 Chr2:227295009 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350858830 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
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147419 rs_375290088

7 SubmittersRCV001950918RCV002271709RCV003992591RCV005002721RCV006254316
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val) SNV
Germline		 Chr2:227280546 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350849251 rs_2106151987

2 SubmittersRCV002045754RCV002507802
NM_000092.5(COL4A4):c.930+1G>A SNV
Germline		 Chr2:227102788 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350856978 rs_2150787516

2 SubmittersRCV001991998RCV005017038
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) SNV
Germline		 ChrX:108677590 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA413850836 rs_1252928330

4 SubmittersRCV003490983RCV004976039RCV005050493RCV002002817
NM_000091.5(COL4A3):c.234+1G>A SNV
Germline		 Chr2:227240233 Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350859688 rs_1240838887

2 SubmittersRCV002507775RCV002040192
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser) SNV
Germline		 ChrX:108668426 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA413848883 rs_2147959471

3 SubmittersRCV001977546RCV002497928RCV005238129
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) SNV
Germline		 Chr2:227266492 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350870191 rs_2125981235

2 SubmittersRCV002492185RCV001964405
NM_000092.5(COL4A4):c.3206G>A (p.Gly1069Glu) SNV
Germline		 Chr2:227050076 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350838805 rs_2150172344

2 SubmittersRCV001958181RCV005232731
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) SNV
Germline		 Chr2:227270788 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146723 rs_779575469

4 SubmittersRCV002017531RCV002498013RCV004699635RCV005361912
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
 CA413845480 rs_2147810410

2 SubmittersRCV002007806RCV002479634
NM_033380.3(COL4A5):c.4070G>A (p.Gly1357Glu) SNV
Germline		 ChrX:108680939 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA334054787 rs_104886402

3 SubmittersRCV001976088RCV005253995
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) SNV
Germline		 Chr2:227033455 Conflicting classifications of pathogenicity Condition: not provided
COL4A4-related disorder
Alport syndrome
not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144497 rs_780504632

8 SubmittersRCV001926356RCV004538624RCV004785388RCV003987939RCV005023459RCV005622141
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
 CA413850235 rs_2147850123

2 SubmittersRCV001957123RCV002503623
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg) SNV
Germline		 Chr2:227297823 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350860420 rs_2106247498

2 SubmittersRCV001965544RCV005025535
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) SNV
Germline		 Chr2:227295008 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147255 rs_774583962

2 SubmittersRCV001980273RCV002479685
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser) SNV
Germline		 ChrX:108603017 Conflicting classifications of pathogenicity Condition: not provided
not specified
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA334040354 rs_867265684

3 SubmittersRCV002027496RCV004699648RCV005050527
NM_000091.5(COL4A3):c.1408+1G>A SNV
Germline		 Chr2:227266510 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 CA350870226 rs_1185847791

2 SubmittersRCV002007325RCV005614735
NM_000092.5(COL4A4):c.3488G>A (p.Gly1163Asp) SNV
Germline		 Chr2:227042165 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350838180 rs_1559480099

2 SubmittersRCV001985914RCV005025574
NM_000092.5(COL4A4):c.1144G>A (p.Gly382Arg) SNV
Germline		 Chr2:227098754 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350854068 rs_2150739928

3 SubmittersRCV001971767RCV005016995RCV005635400
NM_000092.5(COL4A4):c.3514G>T (p.Gly1172Ter) SNV
Germline		 Chr2:227033473 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350838118 rs_1364773011

3 SubmittersRCV001896704RCV005638603RCV005023410
NM_000091.5(COL4A3):c.1883G>A (p.Gly628Asp) SNV
Germline		 Chr2:227273073 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350844990 rs_2125996545

3 SubmittersRCV002009638RCV005860289
NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg) SNV
Germline		 Chr2:227059606 Conflicting classifications of pathogenicity Condition: not provided
COL4A4-related disorder
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144865 rs_202243658

3 SubmittersRCV002037149RCV004728847RCV004785337
NM_033380.3(COL4A5):c.321+1G>A SNV
Germline		 ChrX:108568674 Likely pathogenic Condition: not provided
COL4A5-related disorder
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413918010 rs_2147746303

3 SubmittersRCV002000729RCV003402007RCV005042639
NM_000091.5(COL4A3):c.4755+1G>A SNV
Germline		 Chr2:227309319 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350865873 rs_1346132592

3 SubmittersRCV002031020RCV005025671RCV005635445
NM_033380.3(COL4A5):c.231+2T>C SNV
Germline		 ChrX:108559155 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10488384 rs_763538451

3 SubmittersRCV001965254RCV002497810RCV005924289
NM_000092.5(COL4A4):c.2251G>T (p.Gly751Ter) SNV
Germline		 Chr2:227059537 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350842068 rs_2150275391

2 SubmittersRCV001974799RCV005016900
NM_000091.5(COL4A3):c.324+1G>A SNV
Germline		 Chr2:227244996 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350861000 rs_2125906801

3 SubmittersRCV001990412RCV005016969RCV005614740
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
 CA413925646 rs_1603283567

2 SubmittersRCV002009380RCV002486669
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser) SNV
Germline		 Chr2:227099620 Pathogenic/Likely pathogenic Condition: not provided
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145294 rs_764981982

3 SubmittersRCV002002528RCV004538682RCV005054394
NM_000092.5(COL4A4):c.559-2A>T SNV
Germline		 Chr2:227111715 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145596 rs_766243664

2 SubmittersRCV002050210RCV005005303
NM_000092.5(COL4A4):c.2029G>A (p.Gly677Ser) SNV
Germline		 Chr2:227062557 Pathogenic/Likely pathogenic Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350842545 rs_1977400475

2 SubmittersRCV001972481RCV005016951
NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg) SNV
Germline		 Chr2:227263803 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350868717 rs_2070734616

2 SubmittersRCV002041483RCV004785339
NM_033380.3(COL4A5):c.1490G>A (p.Gly497Asp) SNV
Germline		 ChrX:108595575 Pathogenic/Likely pathogenic Condition: not provided
Hematuria
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413935983 rs_2147806122

3 SubmittersRCV002048741RCV006254321RCV005042702
NM_000092.5(COL4A4):c.737G>C (p.Gly246Ala) SNV
Germline		 Chr2:227104051 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350858467 rs_1559631986

2 SubmittersRCV002033097RCV005014694
NM_033380.3(COL4A5):c.1369G>A (p.Gly457Ser) SNV
Germline		 ChrX:108591590 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413934466 rs_2147798001

2 SubmittersRCV005040414RCV002041660
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg) SNV
Germline		 Chr2:227282478 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA350850579 rs_2106164384

2 SubmittersRCV001901395RCV005016798
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
 CA66542073 rs_374340855

2 SubmittersRCV001956360RCV006257022
NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys) SNV
Germline		 Chr2:227270944 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350871960 rs_2125991456

2 SubmittersRCV001956364RCV004785415
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu) SNV
Germline		 Chr2:227251161 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria		 Criteria Provided
Conflicting Classifications
 CA2146216 rs_371173786

2 SubmittersRCV002045971RCV002507804
NM_000092.5(COL4A4):c.4787G>A (p.Trp1596Ter) SNV
Germline		 Chr2:227008040 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351140481 rs_1222429942

2 SubmittersRCV002051313RCV004785340
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg) SNV
Germline		 Chr2:227297727 Pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860021 rs_1167411352

2 SubmittersRCV001902520RCV005005329
NM_033380.3(COL4A5):c.2908G>A (p.Gly970Ser) SNV
Germline		 ChrX:108622816 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413853042 rs_2147865920

2 SubmittersRCV002008778RCV005042648
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu) SNV
Germline		 Chr2:227279847 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350847727 rs_2106147306

2 SubmittersRCV002047222RCV005023291
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
 CA413852767 rs_2147865716

2 SubmittersRCV001959008RCV002497891
NM_000092.5(COL4A4):c.2717-2A>G SNV
Germline		 Chr2:227054739 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Single Submitter
 CA350840418 rs_2150221409

2 SubmittersRCV002033538RCV005614752
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala) SNV
Germline		 Chr2:227290044 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA350855058 rs_1204230457

2 SubmittersRCV001910856RCV005016756
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
 CA414133145 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
 CA413850288 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
 CA2147002 rs_761717909

2 SubmittersRCV001910076RCV002490249
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) SNV
Germline		 ChrX:108591127 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA413932564 rs_104886102

4 SubmittersRCV002042672RCV002283578RCV004976132
NM_000091.5(COL4A3):c.398G>T (p.Gly133Val) SNV
Germline		 Chr2:227246695 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146080 rs_750189238

2 SubmittersRCV001973662RCV004785425
NM_033380.3(COL4A5):c.3508G>T (p.Gly1170Cys) SNV
Germline		 ChrX:108666549 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413847771 rs_104886237

2 SubmittersRCV002045191RCV006249803
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) SNV
Germline		 Chr2:227266473 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350870152 rs_757341933

3 SubmittersRCV001888088RCV005005310
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter) SNV
Germline		 Chr2:227307722 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864128 rs_2106283830

2 SubmittersRCV001916437RCV005023435
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala) SNV
Germline		 Chr2:227042201 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144529 rs_371803356

4 SubmittersRCV002027235RCV005370135
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
 CA413852608 rs_2147865597

2 SubmittersRCV002046079RCV002479812
NM_000092.5(COL4A4):c.248G>A (p.Gly83Glu) SNV
Germline		 Chr2:227121093 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350863377 rs_1559677316

2 SubmittersRCV002052247RCV005017104
NM_000092.5(COL4A4):c.536T>G (p.Leu179Ter) SNV
Germline		 Chr2:227114650 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350861331 rs_2124925120

1 SubmittersRCV005868550
NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg) SNV
Unknown		 ChrX:108621838 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413852009 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
 CA2145972 rs_200873401

3 SubmittersRCV002196495RCV003089072RCV003485767
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn) SNV
Germline		 Chr2:227010486 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144187 rs_72969704

4 SubmittersRCV002175766RCV005025718RCV005869722
NM_033380.3(COL4A5):c.124G>A (p.Gly42Ser) SNV
Germline		 ChrX:108539788 Conflicting classifications of pathogenicity Condition: not provided
not specified
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA334174303 rs_371351149

3 SubmittersRCV002186039RCV004526192RCV005050543
NM_000092.5(COL4A4):c.3918A>G (p.Pro1306=) SNV
Germline		 Chr2:227030498 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144384 rs_777256419

2 SubmittersRCV002203206RCV005025721
NM_000091.5(COL4A3):c.2934A>T (p.Pro978=) SNV
Germline		 Chr2:227289202 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA431504901 rs_2106201680

2 SubmittersRCV002121926RCV005017149
NM_000092.5(COL4A4):c.4546G>A (p.Val1516Ile) SNV
Germline		 Chr2:227008281 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144124 rs_199517662

3 SubmittersRCV002130318RCV005017141
NM_000091.5(COL4A3):c.1134A>G (p.Gly378=) SNV
Germline		 Chr2:227261101 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146561 rs_752145071

2 SubmittersRCV002132868RCV005869683
NM_000092.5(COL4A4):c.1956G>A (p.Val652=) SNV
Germline		 Chr2:227077925 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA431499920 rs_2150475372

2 SubmittersRCV002174378RCV005025719
NM_033380.3(COL4A5):c.3155A>C (p.Gln1052Pro) SNV
Germline		 ChrX:108626258 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA413854937 rs_1193080627

2 SubmittersRCV002084641RCV006605370
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
 CA2144395 rs_571869797

3 SubmittersRCV002210982RCV006255380
NM_033380.3(COL4A5):c.1226G>T (p.Gly409Val) SNV
Germline		 ChrX:108591118 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413932463 rs_104886101

3 SubmittersRCV002214548RCV005042750
NM_000091.5(COL4A3):c.2648G>A (p.Gly883Glu) SNV
Germline		 Chr2:227282524 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350850882 rs_2106164814

2 SubmittersRCV002221405RCV006249807
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) SNV
Germline		 Chr2:227254124 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350865869 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
Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350870239 rs_2125982395

4 SubmittersRCV002225062RCV003089194RCV005002806
NM_000092.5(COL4A4):c.2732C>G (p.Pro911Arg) SNV
Germline		 Chr2:227054722 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144725 rs_764465049

4 SubmittersRCV002225149RCV003089195RCV005025729
NM_000092.5(COL4A4):c.4915G>C (p.Gly1639Arg) SNV
Germline		 Chr2:227007483 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144020 rs_749899964

4 SubmittersRCV002225236RCV003101287RCV005025731
NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter) SNV
Unknown		 Chr2:227140188 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350866319 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
 CA350858100 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
 CA413930846 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
 CA413845676 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
 CA350836878 rs_2149854376

2 SubmittersRCV002250836RCV003094070
NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp) SNV
Germline		 ChrX:108575911 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 CA413921892 rs_104886059

2 SubmittersRCV002250924
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg) SNV
Germline		 Chr2:227273063 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
not specified
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA350844968 rs_2125996501

3 SubmittersRCV002250951RCV004587334RCV005025739
NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter) SNV
Germline		 Chr2:227304105 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350862962 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
 CA350867173 rs_1287109722

1 SubmittersRCV002466748
NM_033380.3(COL4A5):c.321+5G>A SNV
Germline		 ChrX:108568678 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA2573159169 rs_2147746317

1 SubmittersRCV002255231
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp) SNV
Germline		 Chr2:227280546 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Condition: not provided
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350849250 rs_2106151987

3 SubmittersRCV002272123RCV003560912RCV005620441
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) SNV
Germline		 Chr2:227101899 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66561030 rs_1005389790

2 SubmittersRCV006255386RCV005025754
NM_000092.5(COL4A4):c.853G>A (p.Gly285Arg) SNV
Germline		 Chr2:227103161 Pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA350857597 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
 CA413920129 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
 CA413933155 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
 CA2580100243 rs_2524204781

1 SubmittersRCV002280378
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val) SNV
Germline		 Chr2:227266465 Conflicting classifications of pathogenicity not specified
COL4A3-related disorder
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350870138 rs_2070897613

4 SubmittersRCV002282964RCV003403775RCV002511152RCV005017183
NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys) SNV
Germline		 ChrX:108573619 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA413920949 rs_1556404027

2 SubmittersRCV002283625
NM_000092.5(COL4A4):c.2968+1G>T SNV
Germline		 Chr2:227052304 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350839313 rs_2474006520

1 SubmittersRCV002283912
NM_033380.3(COL4A5):c.835-9T>A SNV
Germline		 ChrX:108580673 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA2580100193 rs_1231112953

1 SubmittersRCV002293267
NM_000092.5(COL4A4):c.4235G>A (p.Gly1412Glu) SNV
Germline		 Chr2:227012279 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2144228 rs_201996712

4 SubmittersRCV002293730RCV005017189RCV005321152
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg) SNV
Germline		 Chr2:227101539 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350855950 rs_2060521689

1 SubmittersRCV002294583
NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter) SNV
Germline		 Chr2:227010395 Likely pathogenic Kidney disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350836143 rs_774471575

2 SubmittersRCV002294670RCV005025772
NM_000091.5(COL4A3):c.2656+1G>T SNV
Germline		 Chr2:227282533 Likely pathogenic Kidney disorder
Inborn genetic diseases
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350850917 rs_2469770966

3 SubmittersRCV002294671RCV003382879RCV005017190
NM_033380.3(COL4A5):c.3622G>C (p.Gly1208Arg) SNV
Germline		 ChrX:108668336 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413848393 rs_2524574720

1 SubmittersRCV002306281
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys) SNV
Germline		 Chr2:227054678 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144719 rs_771064865

3 SubmittersRCV002306360RCV005025789
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter) SNV
Unknown		 Chr2:227307886 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350864466 rs_2469931914

1 SubmittersRCV002306478
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter) SNV
Germline		 Chr2:227305038 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66618133 rs_772528863

2 SubmittersRCV002306570RCV006470471
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter) SNV
Unknown		 ChrX:108687670 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413854739 rs_2524632984

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
 CA350847815 rs_2469748132

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
 CA350871916 rs_2469685114

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
 CA413918487 rs_1569488426

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
 CA350836810 rs_2473008834

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
 CA413924048 rs_2524235865

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
 CA350868309 rs_752030126

1 SubmittersRCV002309788
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter) SNV
Germline		 ChrX:108694883 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA414132545 rs_2524652341

3 SubmittersRCV002309804RCV005096131
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter) SNV
Unknown		 Chr2:227270839 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350871741 rs_2469683983

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
 CA350839174 rs_2473972925

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
 CA350854730 rs_2475458276

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
 CA350838847 rs_2473939660

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
 CA413851176 rs_2524613304

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
 CA413851711 rs_2067018186

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
 CA350839115 rs_1244937877

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
 CA413851859 rs_2524403492

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
 CA350865333 rs_2469937744

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
 CA350865689 rs_2469939276

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
 CA350850582 rs_2106164384

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
 CA413845521 rs_2524308896

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
 CA414132495 rs_2524652195

1 SubmittersRCV002308213
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter) SNV
Germline		 Chr2:227114630 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350861218 rs_1351388457

2 SubmittersRCV002308288RCV005025790
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter) SNV
Unknown		 ChrX:108624320 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413853632 rs_2524414626

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
 CA350857686 rs_2469850008

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
 CA350864085 rs_2469545819

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
 CA350841186 rs_2474161328

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
 CA413924093 rs_2524235917

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
 CA350847647 rs_2469747787

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
 CA350838318 rs_2473692907

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
 CA350865135 rs_2469937391

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
 CA350857087 rs_1045939403

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
 CA350854004 rs_2475419713

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
 CA413852485 rs_2524617057

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
 CA350863960 rs_2469916694

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
 CA413847606 rs_2524566727

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
 CA2145136 rs_765866000

1 SubmittersRCV002306929
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter) SNV
Unknown		 ChrX:108573577 Likely pathogenic X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413920718 rs_2524216449

2 SubmittersRCV002307211RCV005931794
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter) SNV
Unknown		 Chr2:227108589 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350859170 rs_2475772649

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
 CA350871086 rs_2071139043

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
 CA413849157 rs_2524576232

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
 CA350836643 rs_2473003981

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
 CA350854384 rs_2469816176

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
 CA350859773 rs_2475811047

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
 CA350866285 rs_2476899667

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
 CA350842174 rs_2474225085

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
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145369 rs_757578262

3 SubmittersRCV002467377RCV002569360RCV005025835
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val) SNV
Germline		 ChrX:108624326 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413853678 rs_2524414663

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
 CA350861702 rs_2469502863

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
 CA350844849 rs_2469700028

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
 CA350850338 rs_2469769803

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
 CA350851290 rs_1174417447

1 SubmittersRCV002468833
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val) SNV
Germline		 Chr2:227284328 Likely pathogenic Autosomal recessive Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350852485 rs_2106175500

2 SubmittersRCV002468834RCV005025837
NM_000092.5(COL4A4):c.2383+1G>A SNV
Germline		 Chr2:227059404 Pathogenic/Likely pathogenic Benign familial hematuria
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350841800 rs_2474215752

2 SubmittersRCV002468837RCV005019212
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg) SNV
Germline		 ChrX:108580569 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413925811 rs_2524244170

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
 CA413926951 rs_2147777425

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
 CA413927497 rs_104886086

1 SubmittersRCV002468844
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro) SNV
Germline		 Chr2:227309232 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2147608 rs_775823265

3 SubmittersRCV002469830RCV006605382
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
 CA413847021 rs_775988576

3 SubmittersRCV002471908
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val) SNV
Germline		 ChrX:108668487 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413849123 rs_2524576103

1 SubmittersRCV006249822
NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val) SNV
Germline		 ChrX:108597414 Likely pathogenic X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA413845273 rs_2524307924

2 SubmittersRCV002470366RCV005931983
NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg) SNV
Germline		 ChrX:108681852 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413852323 rs_1339067074

1 SubmittersRCV002470453
NM_033380.3(COL4A5):c.231+1G>T SNV
Germline		 ChrX:108559154 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413914990 rs_104886349

1 SubmittersRCV002508854
NM_000092.5(COL4A4):c.196C>T (p.Pro66Ser) SNV
Germline		 Chr2:227121145 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145746 rs_758822531

2 SubmittersRCV003073990RCV005028153
NM_000092.5(COL4A4):c.617C>T (p.Pro206Leu) SNV
Germline		 Chr2:227109264 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145553 rs_537557592

2 SubmittersRCV003076731RCV005028158
NM_000092.5(COL4A4):c.4900T>C (p.Cys1634Arg) SNV
Germline		 Chr2:227007498 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA351140224 rs_1559393934

3 SubmittersRCV003083240RCV005019629
NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser) SNV
Germline		 Chr2:227280479 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146907 rs_770920210

3 SubmittersRCV003068277RCV005028161RCV004786812
NM_033380.3(COL4A5):c.556G>A (p.Gly186Ser) SNV
Germline		 ChrX:108575919 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413921949 rs_2066140289

3 SubmittersRCV003066361RCV005050708
NM_033380.3(COL4A5):c.3809-1G>A SNV
Germline		 ChrX:108677499 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413850036 rs_2524602187

2 SubmittersRCV003050650RCV004594665
NM_000092.5(COL4A4):c.4037G>T (p.Gly1346Val) SNV
Germline		 Chr2:227027946 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA66557700 rs_933331654

2 SubmittersRCV003058992RCV005019605
NM_000092.5(COL4A4):c.3152G>C (p.Gly1051Ala) SNV
Germline		 Chr2:227050130 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350838912 rs_1973765207

2 SubmittersRCV003077660RCV005028193
NM_000092.5(COL4A4):c.3285T>G (p.Cys1095Trp) SNV
Germline		 Chr2:227047479 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA66577839 rs_908532580

3 SubmittersRCV003069787RCV005019657
NM_000092.5(COL4A4):c.3328A>G (p.Ile1110Val) SNV
Germline		 Chr2:227043146 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144558 rs_371595632

2 SubmittersRCV003086231RCV005019661
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp) SNV
Germline		 Chr2:227054732 Conflicting classifications of pathogenicity Condition: not provided
COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144728 rs_767194693

3 SubmittersRCV003073021RCV004529202RCV005028209
NM_033380.3(COL4A5):c.231+3A>G SNV
Germline		 ChrX:108559156 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488385 rs_376366035

2 SubmittersRCV003075004RCV005045242
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala) SNV
Germline		 Chr2:227263936 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA350869600 rs_1237274947

5 SubmittersRCV003087862RCV004786830RCV005019662RCV006363110
NM_033380.3(COL4A5):c.337G>A (p.Asp113Asn) SNV
Germline		 ChrX:108568774 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488435 rs_757442319

2 SubmittersRCV003079573RCV005045254
NM_000092.5(COL4A4):c.2668C>G (p.Pro890Ala) SNV
Germline		 Chr2:227055993 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144746 rs_762460101

4 SubmittersRCV003085818RCV003093662RCV005028201
NM_000091.5(COL4A3):c.1103G>A (p.Arg368His) SNV
Germline		 Chr2:227259866 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2146523 rs_748026747

2 SubmittersRCV003076100RCV004786829
NM_000091.5(COL4A3):c.3059T>C (p.Met1020Thr) SNV
Germline		 Chr2:227290077 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2147086 rs_202071907

4 SubmittersRCV003097447RCV005028239RCV005323348
NM_000092.5(COL4A4):c.4036G>A (p.Gly1346Ser) SNV
Germline		 Chr2:227027947 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350837015 rs_770838029

3 SubmittersRCV002585306RCV005021589
NM_000091.5(COL4A3):c.3609G>A (p.Pro1203=) SNV
Germline		 Chr2:227297717 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA66610387 rs_1045022382

2 SubmittersRCV003082306RCV005028220
NM_000092.5(COL4A4):c.3494C>T (p.Pro1165Leu) SNV
Germline		 Chr2:227042159 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Porencephaly 2		 Criteria Provided
Conflicting Classifications
 CA2144522 rs_374343979

4 SubmittersRCV002581900RCV005021580RCV005863812
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser) SNV
Germline		 Chr2:227305002 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350863725 rs_2106274329

3 SubmittersRCV003090309RCV005028224
NM_000092.5(COL4A4):c.3461G>A (p.Gly1154Asp) SNV
Germline		 Chr2:227042192 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2144527 rs_775698697

3 SubmittersRCV003073359RCV005021547RCV005323337
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala) SNV
Germline		 Chr2:227245973 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350861652 rs_1408412826

2 SubmittersRCV002611793RCV005028274
NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr) SNV
Germline		 Chr2:227008064 Conflicting classifications of pathogenicity Condition: not provided
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA351140536 rs_2472603434

2 SubmittersRCV002664283RCV004786849
NM_000092.5(COL4A4):c.4376G>T (p.Gly1459Val) SNV
Germline		 Chr2:227010459 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350836277 rs_1287040507

3 SubmittersRCV002512022RCV005019226
NM_000092.5(COL4A4):c.1433G>A (p.Gly478Glu) SNV
Germline		 Chr2:227089894 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145168 rs_781479400

2 SubmittersRCV002651615RCV005636763
NM_000091.5(COL4A3):c.2155T>C (p.Ser719Pro) SNV
Germline		 Chr2:227279822 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146877 rs_751113129

2 SubmittersRCV002651619RCV005028326
NM_000092.5(COL4A4):c.4679G>A (p.Arg1560His) SNV
Germline		 Chr2:227008148 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144097 rs_747362746

3 SubmittersRCV002624817RCV005028300
NM_000091.5(COL4A3):c.692T>C (p.Val231Ala) SNV
Germline		 Chr2:227253565 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146321 rs_747868845

2 SubmittersRCV002648030RCV005028316
NM_000092.5(COL4A4):c.1763G>A (p.Arg588Gln) SNV
Germline		 Chr2:227080483 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145068 rs_369334025

2 SubmittersRCV002664107RCV005028317
NM_000092.5(COL4A4):c.1504C>G (p.Pro502Ala) SNV
Germline		 Chr2:227088772 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145142 rs_767258671

3 SubmittersRCV002644110RCV005021651
NM_000092.5(COL4A4):c.4937A>G (p.Asn1646Ser) SNV
Germline		 Chr2:227007461 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144016 rs_764734415

2 SubmittersRCV002644204RCV005021653
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys) SNV
Germline		 Chr2:227032178 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144455 rs_769191749

3 SubmittersRCV002638142RCV005021650
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
 CA413854367 rs_2524419875

2 SubmittersRCV002510417RCV002569436
NM_000091.5(COL4A3):c.275T>A (p.Val92Glu) SNV
Germline		 Chr2:227244360 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2145973 rs_768404745

2 SubmittersRCV003117927RCV005021797
NM_033380.3(COL4A5):c.2210G>A (p.Gly737Asp) SNV
Germline		 ChrX:108603027 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413847479 rs_2524333227

2 SubmittersRCV003112463RCV005047418
NM_033380.3(COL4A5):c.3604+1G>A SNV
Germline		 ChrX:108667184 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413848229 rs_2524570014

3 SubmittersRCV003112464RCV004786872
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg) SNV
Germline		 Chr2:227080489 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145072 rs_751744651

4 SubmittersRCV002576149RCV004973439RCV005019232
NM_033380.3(COL4A5):c.4579T>A (p.Cys1527Ser) SNV
Germline		 ChrX:108692798 Conflicting classifications of pathogenicity Condition: not provided
COL4A5-related disorder
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10489384 rs_755766520

4 SubmittersRCV002584492RCV004725316RCV005050600
NM_000092.5(COL4A4):c.4165G>A (p.Gly1389Arg) SNV
Germline		 Chr2:227022099 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA66552382 rs_200645919

2 SubmittersRCV002597830RCV005019263
NM_000092.5(COL4A4):c.2402G>A (p.Gly801Glu) SNV
Germline		 Chr2:227057582 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350841503 rs_200814061

2 SubmittersRCV002751587RCV005019373
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser) SNV
Germline		 ChrX:108606742 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413848554 rs_2524346214

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
 CA413855506 rs_2524646096

1 SubmittersRCV002814360
NM_033380.3(COL4A5):c.4707-1G>A SNV
Germline		 ChrX:108694806 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA414132383 rs_1556462917

2 SubmittersRCV002791238RCV004596559
NM_033380.3(COL4A5):c.826G>A (p.Gly276Ser) SNV
Germline		 ChrX:108580578 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413925864 rs_1314371806

2 SubmittersRCV002814699RCV006559681
NM_000092.5(COL4A4):c.3331C>T (p.Gln1111Ter) SNV
Germline		 Chr2:227043143 Pathogenic/Likely pathogenic Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350838515 rs_2473718276

2 SubmittersRCV002846982RCV005019415
NM_000091.5(COL4A3):c.4253-1G>A SNV
Germline		 Chr2:227307709 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864100 rs_1268304692

2 SubmittersRCV002811690RCV004786750
NM_000091.5(COL4A3):c.2020+1G>T SNV
Germline		 Chr2:227276478 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350846526 rs_2469724141

3 SubmittersRCV002861958RCV005616482
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
 CA413851848 rs_2524616299

2 SubmittersRCV002839105RCV003330109
NM_033380.3(COL4A5):c.3454+1G>A SNV
Germline		 ChrX:108665588 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413847467 rs_281874715

2 SubmittersRCV002852813RCV006257368
NM_033380.3(COL4A5):c.2767+4A>G SNV
Germline		 ChrX:108621896 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
COL4A5-related disorder		 Criteria Provided
Conflicting Classifications
 CA2580100196 rs_2524404232

3 SubmittersRCV002894227RCV005045022RCV003409944
NM_033380.3(COL4A5):c.2962G>T (p.Gly988Ter) SNV
Germline		 ChrX:108624280 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413853363 rs_2524414327

2 SubmittersRCV002858363RCV005050646
NM_000091.5(COL4A3):c.3338-1G>A SNV
Germline		 Chr2:227294489 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350858470 rs_1344548642

3 SubmittersRCV002923841RCV005028052
NM_000091.5(COL4A3):c.687+13C>T SNV
Germline		 Chr2:227253350 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA765684598 rs_1344117870

2 SubmittersRCV002929215RCV005028060
NM_000092.5(COL4A4):c.1022G>A (p.Gly341Asp) SNV
Germline		 Chr2:227101511 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350855773 rs_2475529342

2 SubmittersRCV002970792RCV005019505
NM_000092.5(COL4A4):c.1762C>T (p.Arg588Trp) SNV
Germline		 Chr2:227080484 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145069 rs_778889239

2 SubmittersRCV003002159RCV005028100
NM_000092.5(COL4A4):c.136C>A (p.Pro46Thr) SNV
Germline		 Chr2:227140217 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145778 rs_374836502

2 SubmittersRCV003011356RCV005019552
NM_000092.5(COL4A4):c.1805G>A (p.Gly602Glu) SNV
Germline		 Chr2:227078076 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350845645 rs_2059129170

3 SubmittersRCV003018915RCV004068577RCV005869975
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter) SNV
Germline		 Chr2:227297845 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350860517 rs_1400784100

3 SubmittersRCV003018607RCV005616526RCV005028115
NM_033380.3(COL4A5):c.3844G>A (p.Gly1282Arg) SNV
Germline		 ChrX:108677535 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413850265 rs_2068329229

2 SubmittersRCV003018623RCV005045157
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
 CA413848008 rs_2068097992

2 SubmittersRCV003019575RCV003479462
NM_000092.5(COL4A4):c.4901G>C (p.Cys1634Ser) SNV
Germline		 Chr2:227007497 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA351140220 rs_1345086570

3 SubmittersRCV003026871RCV005869979RCV004765627
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
 CA413914082 rs_2524162428

2 SubmittersRCV003046789RCV003236595
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln) SNV
Germline		 Chr2:227263846 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA2146583 rs_373952897

3 SubmittersRCV002679070RCV003481433RCV005028402
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser) SNV
Germline		 Chr2:227054666 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144718 rs_748011297

4 SubmittersRCV002694276RCV003485833RCV006473527
NM_000091.5(COL4A3):c.3722G>A (p.Arg1241His) SNV
Germline		 Chr2:227297830 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2147333 rs_201841428

3 SubmittersRCV002699392RCV005028404RCV005099111
NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile) SNV
Germline		 Chr2:227246716 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146083 rs_555034953

3 SubmittersRCV002759528RCV003778632RCV005021777
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu) SNV
Germline		 Chr2:227051007 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144632 rs_749738744

3 SubmittersRCV002774233RCV005029894RCV006473565
NM_000091.5(COL4A3):c.610-1G>A SNV
Germline		 Chr2:227251335 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864011 rs_2469545357

2 SubmittersRCV003123358RCV005029908
NM_033380.3(COL4A5):c.4087+1G>C SNV
Germline		 ChrX:108680957 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10489285 rs_587776401

2 SubmittersRCV003142372RCV006473655
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg) SNV
Unknown		 Chr2:227060145 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350842275 rs_2474252483

1 SubmittersRCV003148431
NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg) SNV
Germline		 ChrX:108614937 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413849812 rs_2066899099

1 SubmittersRCV003152948
NM_000092.5(COL4A4):c.1459+1G>A SNV
Germline		 Chr2:227089867 Pathogenic Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2145163 rs_753818949

2 SubmittersRCV003153023RCV003561196
NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter) SNV
Unknown		 Chr2:227310832 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350866105 rs_1064796314

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
 CA413845289 rs_104886127

1 SubmittersRCV003153095
NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg) SNV
Germline		 Chr2:227284327 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter
 CA2147041 rs_771818723

1 SubmittersRCV005623107
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala) SNV
Germline		 Chr2:227293192 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350857095 rs_765128550

1 SubmittersRCV003155601
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val) SNV
Germline		 Chr2:227098717 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter
 CA350853854 rs_2475417678

2 SubmittersRCV003223469
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg) SNV
Germline		 Chr2:227054603 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350839954 rs_1194269620

1 SubmittersRCV003230847
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser) SNV
Germline		 Chr2:227012199 Conflicting classifications of pathogenicity not specified
COL4A4-related disorder
Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350836413 rs_1963887200

4 SubmittersRCV003230854RCV004538928RCV004786905RCV004813224
NM_033380.3(COL4A5):c.82-1G>A SNV
Germline		 ChrX:108539745 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413908388 rs_2524082011

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
 CA350849713 rs_2469759941

1 SubmittersRCV003236658
NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu) SNV
Germline		 Chr2:227259860 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350868442 rs_2469607690

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
 CA413854440 rs_2147991488

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
 CA413920320 rs_2066069145

1 SubmittersRCV003314291
NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg) SNV
Germline		 Chr2:227294972 Likely pathogenic Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350858690 rs_1489682011

2 SubmittersRCV005029975RCV005252148
NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp) SNV
Germline		 Chr2:227259850 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350868391 rs_1559875465

1 SubmittersRCV003314523
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg) SNV
Germline		 Chr2:227261117 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350868656 rs_2070534871

2 SubmittersRCV003324185RCV006605393
NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val) SNV
Germline		 ChrX:108597507 Pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413845464 rs_104886138

1 SubmittersRCV003324611
NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys) SNV
Germline		 ChrX:108625785 Pathogenic X-linked Alport syndrome
Nonpapillary renal cell carcinoma		 No Assertion Criteria Provided
 CA413854765 rs_2524420680

2 SubmittersRCV003324636RCV005931097
NM_000092.5(COL4A4):c.2969G>A (p.Gly990Asp) SNV
Germline		 Chr2:227051158 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2144657 rs_759591544

2 SubmittersRCV003327075RCV004720392
NM_000091.5(COL4A3):c.3956-1G>A SNV
Germline		 Chr2:227303858 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350862345 rs_2469908727

3 SubmittersRCV003328893RCV005636903
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg) SNV
Germline		 Chr2:227052341 Conflicting classifications of pathogenicity not specified
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350839396 rs_759439914

2 SubmittersRCV003331680RCV005029987
NM_000092.5(COL4A4):c.4523-1G>A SNV
Germline		 Chr2:227008305 Pathogenic Autosomal recessive Alport syndrome No Assertion Criteria Provided
 CA351141049 rs_2472617038

1 SubmittersRCV003333864
NM_033380.3(COL4A5):c.3791-41A>G SNV
Germline		 ChrX:108670187 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA2582342925 rs_2524581638

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
 CA413853489 rs_2524414414

1 SubmittersRCV003340941
NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter) SNV
Germline		 ChrX:108539771 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413908691 rs_759512115

1 SubmittersRCV003337949
NM_000092.5(COL4A4):c.4762T>A (p.Cys1588Ser) SNV
Germline		 Chr2:227008065 Likely pathogenic Inborn genetic diseases
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351140539 rs_2472603497

2 SubmittersRCV003343399RCV005021924
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter) SNV
Germline		 ChrX:108440185 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413905987 rs_2523833248

2 SubmittersRCV003387637RCV005104267
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
 CA413857639 rs_2524532092

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
 CA413851839 rs_397515496

3 SubmittersRCV003388768RCV003679199
NM_033380.3(COL4A5):c.2096G>A (p.Gly699Glu) SNV
Germline		 ChrX:108601939 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided
 CA413847005 rs_2524328643

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
 CA350862167 rs_2469904962

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
 CA413854587 rs_1569498896

1 SubmittersRCV003389290
NM_000092.5(COL4A4):c.2192G>A (p.Gly731Asp) SNV
Germline		 Chr2:227059596 Likely pathogenic Autosomal recessive Alport syndrome
COL4A4-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350842185 rs_1976367934

3 SubmittersRCV003989840RCV004531600RCV006451391
NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg) SNV
Germline		 Chr2:227272967 Likely pathogenic COL4A3-related disorder
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350844771 rs_2469699523

2 SubmittersRCV003421151RCV005021957
NM_000092.5(COL4A4):c.3214+2T>A SNV
Germline		 Chr2:227050066 Likely pathogenic Condition: not provided
COL4A4-related disorder
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350838782 rs_778161679

3 SubmittersRCV003778341RCV004536727RCV005030028
NM_033380.3(COL4A5):c.706G>A (p.Gly236Ser) SNV
Germline		 ChrX:108578309 Likely pathogenic COL4A5-related disorder
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413924121 rs_2524235953

2 SubmittersRCV003399910RCV005047565
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala) SNV
Germline		 Chr2:227282461 Conflicting classifications of pathogenicity COL4A3-related disorder
Condition: not provided
Autosomal dominant Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350850484 rs_2469770082

3 SubmittersRCV003408498RCV003689084RCV004699173
NM_033380.3(COL4A5):c.1443C>A (p.Cys481Ter) SNV
Germline		 ChrX:108595528 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413935526 rs_1481434540

2 SubmittersRCV003445433RCV004697294
NM_033380.3(COL4A5):c.2917+2T>A SNV
Germline		 ChrX:108622827 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413853089 rs_2524408721

1 SubmittersRCV003447715
NM_033380.3(COL4A5):c.3016+1G>A SNV
Germline		 ChrX:108624335 Pathogenic/Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA413854304 rs_104886377

2 SubmittersRCV003447723
NM_033380.3(COL4A5):c.834+1G>T SNV
Germline		 ChrX:108580587 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413925901 rs_104886446

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
 CA350856343 rs_2475551311

1 SubmittersRCV006255898
NM_033380.3(COL4A5):c.4529-1G>C SNV
Germline		 ChrX:108692747 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2524645713

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
 rs_2524282171

1 SubmittersRCV004577582
NM_033380.3(COL4A5):c.276+3A>C SNV
Germline		 ChrX:108563929 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2524179835

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
 rs_2469606943

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
 CA350869424 rs_2469634847

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
 CA413925870 rs_2524244259

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
 CA350858403 rs_760795817

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
 CA350851705 rs_1405970656

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
 CA350838404 rs_2473714807

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
 CA413854770 rs_2524420706

1 SubmittersRCV003494520
NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp) SNV
Germline		 Chr2:227253306 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350864798 rs_2069900248

2 SubmittersRCV003494543RCV005030067
NM_000092.5(COL4A4):c.2545+1G>A SNV
Germline		 Chr2:227057438 Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350841155 rs_2474160561

2 SubmittersRCV003543483RCV005022006
NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg) SNV
Germline		 Chr2:227263881 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA350869316 rs_2469634498

2 SubmittersRCV003545232RCV005022012
NM_000092.5(COL4A4):c.827G>C (p.Gly276Ala) SNV
Germline		 Chr2:227103187 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA2145409 rs_202242354

3 SubmittersRCV003546388RCV005407174
NM_033380.3(COL4A5):c.2245-9A>G SNV
Germline		 ChrX:108606733 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488882 rs_376981637

2 SubmittersRCV003554765RCV005047666
NM_000091.5(COL4A3):c.1408+1G>C SNV
Germline		 Chr2:227266510 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350870227 rs_1185847791

3 SubmittersRCV003579937RCV004786959RCV005030103
NM_000092.5(COL4A4):c.3289+1G>A SNV
Germline		 Chr2:227047474 Pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350838612 rs_1973128133

2 SubmittersRCV003555004RCV004786961
NM_000092.5(COL4A4):c.508G>A (p.Gly170Arg) SNV
Germline		 Chr2:227114678 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350861502 rs_2061396039

2 SubmittersRCV003555008RCV005014771
NM_000091.5(COL4A3):c.2980+1G>A SNV
Germline		 Chr2:227289249 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350854578 rs_2469816514

2 SubmittersRCV003555016RCV004786962
NM_033380.3(COL4A5):c.2509+1G>T SNV
Germline		 ChrX:108615025 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413850277 rs_1556418287

2 SubmittersRCV003560287RCV005051343
NM_033380.3(COL4A5):c.4172G>T (p.Gly1391Val) SNV
Germline		 ChrX:108681844 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413852277 rs_2068437273

2 SubmittersRCV003570627RCV005047702
NM_000092.5(COL4A4):c.3818-1G>A SNV
Germline		 Chr2:227030599 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350837481 rs_2473284144

2 SubmittersRCV003571979RCV005416138
NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu) SNV
Germline		 ChrX:108687518 Likely pathogenic Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413854022 rs_2524632147

2 SubmittersRCV003526645RCV006617000
NM_033380.3(COL4A5):c.4162G>A (p.Gly1388Ser) SNV
Germline		 ChrX:108681834 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA413852220 rs_2524616692

2 SubmittersRCV003659961RCV004594705
NM_000092.5(COL4A4):c.2270G>A (p.Gly757Glu) SNV
Germline		 Chr2:227059518 Likely pathogenic Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350842028 rs_2474221510

2 SubmittersRCV003665470RCV005030143
NM_000091.5(COL4A3):c.1114+1G>T SNV
Germline		 Chr2:227259878 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350868524 rs_1286895614

2 SubmittersRCV003662645RCV005030149
NM_033380.3(COL4A5):c.4994+1G>A SNV
Germline		 ChrX:108695440 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA414133017 rs_2524654509

3 SubmittersRCV003684807RCV003985630
NM_000092.5(COL4A4):c.4386C>A (p.Tyr1462Ter) SNV
Germline		 Chr2:227010449 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350836258 rs_2472680030

2 SubmittersRCV003684636RCV005030167
NM_000091.5(COL4A3):c.829-2A>G SNV
Germline		 Chr2:227254654 Pathogenic/Likely pathogenic Condition: not provided
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350866112 rs_1553753119

2 SubmittersRCV003706739RCV005254857
NM_033380.3(COL4A5):c.2105G>T (p.Gly702Val) SNV
Germline		 ChrX:108601948 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA413847025 rs_2524328777

2 SubmittersRCV003713489RCV005047745
NM_033380.3(COL4A5):c.1797G>A (p.Lys599=) SNV
Germline		 ChrX:108598719 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA517922296 rs_1446078714

2 SubmittersRCV003696468RCV005047772
NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp) SNV
Germline		 Chr2:227295036 Conflicting classifications of pathogenicity Condition: not provided
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350858929 rs_2469863799

3 SubmittersRCV003716726RCV004690453RCV005030189
NM_000091.5(COL4A3):c.610-1G>C SNV
Germline		 Chr2:227251335 Likely pathogenic Condition: not provided
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864013 rs_2469545357

2 SubmittersRCV003693605RCV004786996
NM_033380.3(COL4A5):c.2749G>A (p.Gly917Ser) SNV
Germline		 ChrX:108621874 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA413852219 rs_2524404029

3 SubmittersRCV003716557RCV006605408
NM_000092.5(COL4A4):c.1148A>G (p.Asp383Gly) SNV
Germline		 Chr2:227098750 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2145267 rs_764482364

2 SubmittersRCV003722024RCV005014886
NM_033380.3(COL4A5):c.172C>T (p.His58Tyr) SNV
Germline		 ChrX:108559094 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA10488377 rs_372805446

2 SubmittersRCV003725029RCV005047804
NM_000092.5(COL4A4):c.4943A>G (p.Tyr1648Cys) SNV
Germline		 Chr2:227007455 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA2144015 rs_763387095

2 SubmittersRCV003724517RCV005030220
NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser) SNV
Germline		 ChrX:108677544 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10489236 rs_764755602

3 SubmittersRCV003726721RCV004787004RCV005407236
NM_000092.5(COL4A4):c.2986G>T (p.Gly996Trp) SNV
Germline		 Chr2:227051141 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350839268 rs_370474706

2 SubmittersRCV003740346RCV005030256
NM_000092.5(COL4A4):c.1277G>A (p.Gly426Glu) SNV
Germline		 Chr2:227094217 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA66554468 rs_1019388756

2 SubmittersRCV003736341RCV005030261
NM_000091.5(COL4A3):c.3150G>A (p.Gln1050=) SNV
Germline		 Chr2:227290826 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA66606678 rs_1032938979

2 SubmittersRCV003738766RCV005014937
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg) SNV
Germline		 Chr2:227101548 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350855996 rs_1162654150

3 SubmittersRCV003832508RCV005015024
NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg) SNV
Germline		 Chr2:227266446 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications
 CA2146624 rs_760203599

2 SubmittersRCV003834322RCV005030306
NM_000092.5(COL4A4):c.4762T>C (p.Cys1588Arg) SNV
Germline		 Chr2:227008065 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA351140538 rs_2472603497

2 SubmittersRCV003829415RCV005030296
NM_000092.5(COL4A4):c.4029A>T (p.Gly1343=) SNV
Germline		 Chr2:227027954 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA431496674 rs_1559444690

2 SubmittersRCV005015029RCV003845561
NM_000091.5(COL4A3):c.3606C>T (p.Leu1202=) SNV
Germline		 Chr2:227297714 Conflicting classifications of pathogenicity Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA431507181 rs_1186120881

2 SubmittersRCV003857504RCV005030332
NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp) SNV
Germline		 Chr2:227295000 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA66609010 rs_867868120

2 SubmittersRCV003863583RCV005030336
NM_000092.5(COL4A4):c.3716G>C (p.Gly1239Ala) SNV
Germline		 Chr2:227032046 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 CA350837689 rs_1394140383

2 SubmittersRCV003869232RCV005030340
NM_000091.5(COL4A3):c.1150+5G>A SNV
Germline		 Chr2:227261122 Conflicting classifications of pathogenicity Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146565 rs_751399780

3 SubmittersRCV003862139RCV005626872RCV005030344
NM_000092.5(COL4A4):c.3689G>C (p.Gly1230Ala) SNV
Germline		 Chr2:227032165 Likely pathogenic COL4A4-related disorder
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Single Submitter
 CA350837753 rs_1968566020

2 SubmittersRCV004539402RCV005015100
NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg) SNV
Germline		 Chr2:227007477 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA351140183 rs_1479278183

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
 CA350862939 rs_1431769783

1 SubmittersRCV003984939
NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys) SNV
Germline		 Chr2:227303867 Likely pathogenic Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2147412 rs_759739044

2 SubmittersRCV003984949RCV004787085
NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val) SNV
Germline		 Chr2:227047501 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350838669 rs_2150149041

1 SubmittersRCV003984952
NM_033380.3(COL4A5):c.3098G>A (p.Gly1033Asp) SNV
Germline		 ChrX:108625786 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413854767 rs_2524420706

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
 CA350836488 rs_2472735253

1 SubmittersRCV003991164
NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg) SNV
Germline		 Chr2:227280518 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350849191 rs_2469754387

2 SubmittersRCV003991169RCV005015112
NM_033380.3(COL4A5):c.2998G>T (p.Gly1000Ter) SNV
Germline		 ChrX:108624316 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413853613 rs_2067110688

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
 CA350842442 rs_1353512742

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
 CA413852082 rs_878853089

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
 CA413857499 rs_2524531676

1 SubmittersRCV003991221
NM_033380.3(COL4A5):c.1033-10G>A SNV
Germline		 ChrX:108586605 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA2740097815 rs_1311482428

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
 CA350858581 rs_2469859573

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
 CA350864898 rs_1453982069

1 SubmittersRCV003991283
NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu) SNV
Germline		 Chr2:227280902 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350849372 rs_2469758704

2 SubmittersRCV003991284RCV005030369
NM_000091.5(COL4A3):c.2666G>T (p.Gly889Val) SNV
Germline		 Chr2:227283776 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350851066 rs_2469779404

1 SubmittersRCV003991303
NM_000091.5(COL4A3):c.2746+1G>C SNV
Germline		 Chr2:227283857 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350851500 rs_1574786225

1 SubmittersRCV003991308
NM_033380.3(COL4A5):c.3553+2T>C SNV
Germline		 ChrX:108666596 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413847950 rs_2524567510

1 SubmittersRCV003991360
NM_000092.5(COL4A4):c.930+1G>T SNV
Germline		 Chr2:227102788 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350856975 rs_2150787516

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
 CA350867566 rs_2469594055

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
 CA350871849 rs_2469684718

1 SubmittersRCV003992050
NM_033380.3(COL4A5):c.2446C>T (p.Pro816Ser) SNV
Germline		 ChrX:108614961 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 CA413849932 rs_2524375503

2 SubmittersRCV003992074
NM_033380.3(COL4A5):c.4581C>G (p.Cys1527Trp) SNV
Germline		 ChrX:108692800 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413855427 rs_104886292

1 SubmittersRCV003994650
NM_033380.3(COL4A5):c.2678-1G>T SNV
Germline		 ChrX:108621802 Likely pathogenic X-linked Alport syndrome
Melanoma		 Criteria Provided
Single Submitter
 CA413851835 rs_2524403418

2 SubmittersRCV003994654RCV005937398
NM_000091.5(COL4A3):c.1787G>T (p.Gly596Val) SNV
Germline		 Chr2:227272977 Conflicting classifications of pathogenicity Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA350844796 rs_2469699666

2 SubmittersRCV003994660RCV005545160
NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp) SNV
Germline		 ChrX:108568796 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA413918370 rs_2524196982

2 SubmittersRCV003994694
NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu) SNV
Germline		 Chr2:227270864 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA350871791 rs_2469684422

2 SubmittersRCV004437423RCV005023531
NM_000091.5(COL4A3):c.2657-1G>A SNV
Germline		 Chr2:227283766 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA66600691 rs_373324875

3 SubmittersRCV004437424RCV005023532RCV006249910
NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu) SNV
Germline		 Chr2:227057537 Conflicting classifications of pathogenicity Inborn genetic diseases
Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2144802 rs_371817534

4 SubmittersRCV004437431RCV004787104RCV004796864RCV005104621
NM_000092.5(COL4A4):c.544G>A (p.Val182Ile) SNV
Germline		 Chr2:227114642 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2145632 rs_377231912

4 SubmittersRCV004437440RCV005015137RCV006264294RCV006484033
NM_000091.5(COL4A3):c.1523G>A (p.Gly508Asp) SNV
Germline		 Chr2:227269928 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 CA2146698 rs_757774756

2 SubmittersRCV004526431RCV005015177
NM_000092.5(COL4A4):c.2555G>A (p.Gly852Asp) SNV
Germline		 Chr2:227056106 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Conflicting Classifications
 CA350841126 rs_2474124227

3 SubmittersRCV004527229RCV005023565RCV005871512
NM_033380.3(COL4A5):c.2492G>A (p.Gly831Glu) SNV
Germline		 ChrX:108615007 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413850184 rs_2524375879

1 SubmittersRCV004546874
NM_000091.5(COL4A3):c.4289G>A (p.Gly1430Glu) SNV
Germline		 Chr2:227307746 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Collagen IV-related nephropathies		 Criteria Provided
Conflicting Classifications
 CA350864179 rs_774856700

2 SubmittersRCV004546875RCV005235757
NM_000092.5(COL4A4):c.4625G>A (p.Trp1542Ter) SNV
Germline		 Chr2:227008202 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA351140818 rs_2472612326

1 SubmittersRCV004546886
NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter) SNV
Germline		 Chr2:227307814 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864318 rs_2469931435

2 SubmittersRCV004545912RCV005023567
NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu) SNV
Germline		 Chr2:227293255 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350857565 rs_1559909513

1 SubmittersRCV004545941
NM_000092.5(COL4A4):c.145G>T (p.Gly49Ter) SNV
Germline		 Chr2:227140208 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350866449 rs_2476902451

1 SubmittersRCV004545948
NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser) SNV
Germline		 Chr2:227294999 Likely pathogenic Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Single Submitter
 CA2147253 rs_749383170

2 SubmittersRCV004545952RCV005618359
NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val) SNV
Germline		 Chr2:227263900 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350869415 rs_2469634805

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
 CA350860533 rs_2469880740

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
 rs_764242946

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
 rs_2147797143

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
 rs_281874743

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
 rs_2524616549

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
 rs_2475022046

1 SubmittersRCV004566449
NM_000091.5(COL4A3):c.279+1G>C SNV
Germline		 Chr2:227244365 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350860722 rs_202001097

1 SubmittersRCV004555253
NM_033380.3(COL4A5):c.321+1G>C SNV
Germline		 ChrX:108568674 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413918016 rs_2147746303

2 SubmittersRCV004555280RCV005100823
NM_033380.3(COL4A5):c.3356G>A (p.Gly1119Asp) SNV
Germline		 ChrX:108655440 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413857607 rs_1461391769

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
 CA413932305 rs_104886099

1 SubmittersRCV004555294
NM_000091.5(COL4A3):c.2657-1G>C SNV
Germline		 Chr2:227283766 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350851019 rs_373324875

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
 CA350838018 rs_1197476541

1 SubmittersRCV004555303
NM_000092.5(COL4A4):c.676G>A (p.Gly226Arg) SNV
Germline		 Chr2:227108850 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA350859549 rs_2475786944

3 SubmittersRCV004555305RCV005015182RCV005059528
NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu) SNV
Germline		 Chr2:227283803 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 CA350851194 rs_2469779686

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
 CA350837443 rs_1968071233

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
 CA350870156 rs_2125981183

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
 CA350849989 rs_1258499665

1 SubmittersRCV004555394
NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu) SNV
Germline		 Chr2:227284328 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome Criteria Provided
Conflicting Classifications
 CA350852482 rs_2106175500

2 SubmittersRCV004555411
NM_000092.5(COL4A4):c.1240G>C (p.Gly414Arg) SNV
Germline		 Chr2:227094254 Likely pathogenic Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA66554561 rs_373150214

2 SubmittersRCV004555412RCV005015183
NM_000092.5(COL4A4):c.2608G>A (p.Gly870Ser) SNV
Germline		 Chr2:227056053 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 CA350841019 rs_2150235414

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
 CA350838674 rs_2473864723

1 SubmittersRCV004555466
NM_033380.3(COL4A5):c.2041+1G>A SNV
Germline		 ChrX:108601486 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413846882 rs_104886340

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
 CA413849146 rs_104886176

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
 CA413847236 rs_104886163

1 SubmittersRCV004555475
NM_033380.3(COL4A5):c.3595G>A (p.Gly1199Arg) SNV
Germline		 ChrX:108667174 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413848185 rs_2524569936

1 SubmittersRCV004555483
NM_033380.3(COL4A5):c.2146+1G>C SNV
Germline		 ChrX:108601990 Pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA413847107 rs_2524329089

2 SubmittersRCV004555484
NM_033380.3(COL4A5):c.3329G>A (p.Gly1110Glu) SNV
Germline		 ChrX:108655413 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413857495 rs_2524531676

1 SubmittersRCV004555486
NM_033380.3(COL4A5):c.3043G>A (p.Gly1015Arg) SNV
Germline		 ChrX:108625731 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 CA413854539 rs_2067140465

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
 CA350840800 rs_2474116574

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
 CA413926711 rs_104886080

1 SubmittersRCV004555730
NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg) SNV
Germline		 ChrX:108695357 Pathogenic/Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA414132830 rs_281874750

2 SubmittersRCV004555732
NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg) SNV
Germline		 Chr2:227305083 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350864000 rs_2469916768

2 SubmittersRCV004555745RCV005023570
NM_000092.5(COL4A4):c.4192G>A (p.Gly1398Arg) SNV
Germline		 Chr2:227022072 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter
 rs_2473005339

1 SubmittersRCV004556893
NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg) SNV
Germline		 Chr2:227266500 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_201088233

2 SubmittersRCV004556952RCV006249914
NM_000091.5(COL4A3):c.317G>T (p.Gly106Val) SNV
Germline		 Chr2:227244988 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter
 rs_1043352257

1 SubmittersRCV004556956
NM_000092.5(COL4A4):c.1987G>A (p.Gly663Ser) SNV
Germline		 Chr2:227077894 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 rs_2474714315

2 SubmittersRCV004557275RCV005015186
NM_033380.3(COL4A5):c.382A>T (p.Lys128Ter) SNV
Germline		 ChrX:108568819 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2524197153

1 SubmittersRCV004577175
NM_000091.5(COL4A3):c.987G>A (p.Lys329=) SNV
Germline		 Chr2:227256396 Pathogenic Autosomal dominant Alport syndrome
COL4A3-related disorder		 Criteria Provided
Single Submitter
 rs_754085928

2 SubmittersRCV004578011RCV004723611
NM_000091.5(COL4A3):c.1526T>A (p.Leu509Ter) SNV
Germline		 Chr2:227269931 Pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter
 rs_2469677416

1 SubmittersRCV004585215
NM_000092.5(COL4A4):c.2599G>A (p.Gly867Arg) SNV
Germline		 Chr2:227056062 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 rs_768902127

2 SubmittersRCV004587783RCV005023587
NM_000091.5(COL4A3):c.317G>C (p.Gly106Ala) SNV
Germline		 Chr2:227244988 Conflicting classifications of pathogenicity not specified
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1043352257

3 SubmittersRCV004587901RCV005015194RCV006489010
NM_000092.5(COL4A4):c.3142G>T (p.Gly1048Cys) SNV
Germline		 Chr2:227050985 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 rs_2473967144

2 SubmittersRCV004586081RCV005023589
NM_000091.5(COL4A3):c.2756G>T (p.Gly919Val) SNV
Germline		 Chr2:227284220 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 rs_1445819062

2 SubmittersRCV004586096RCV005023590
NM_000091.5(COL4A3):c.3892G>C (p.Gly1298Arg) SNV
Germline		 Chr2:227303047 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications
 rs_2469904729

2 SubmittersRCV004586121RCV005023591
NM_000092.5(COL4A4):c.2536G>A (p.Gly846Ser) SNV
Germline		 Chr2:227057448 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 rs_1431303701

2 SubmittersRCV004586123RCV005015198
NM_000092.5(COL4A4):c.4271G>A (p.Gly1424Glu) SNV
Germline		 Chr2:227012243 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 rs_2472735687

2 SubmittersRCV004586124RCV005015199
NM_033380.3(COL4A5):c.2848G>C (p.Gly950Arg) SNV
Germline		 ChrX:108622756 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_2524408108

2 SubmittersRCV004586339
NM_000092.5(COL4A4):c.1324G>A (p.Gly442Ser) SNV
Germline		 Chr2:227094170 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 rs_2060086619

2 SubmittersRCV004586347RCV005015202
NM_000092.5(COL4A4):c.4045G>A (p.Gly1349Arg) SNV
Germline		 Chr2:227027938 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications
 rs_2149924555

2 SubmittersRCV004586350RCV005023595
NM_033380.3(COL4A5):c.422G>A (p.Gly141Asp) SNV
Germline		 ChrX:108571450 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2524207795

2 SubmittersRCV004586475RCV006613378
NM_033380.3(COL4A5):c.358G>A (p.Gly120Ser) SNV
Germline		 ChrX:108568795 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications
 rs_2524196968

2 SubmittersRCV004594840
NM_033380.3(COL4A5):c.4334G>A (p.Gly1445Asp) SNV
Germline		 ChrX:108687500 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_757894483

1 SubmittersRCV004595088
NM_033380.3(COL4A5):c.1028G>A (p.Gly343Glu) SNV
Germline		 ChrX:108584521 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2524260150

1 SubmittersRCV004595349
NM_033380.3(COL4A5):c.2173G>T (p.Gly725Ter) SNV
Germline		 ChrX:108602990 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_2524332908

1 SubmittersRCV004595391
NM_033380.3(COL4A5):c.3247-1G>C SNV
Germline		 ChrX:108655330 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter
 rs_1569504056

1 SubmittersRCV004595392
NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys) SNV
Germline		 Chr2:227253305 Likely pathogenic Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004598333RCV005254924
NM_000091.5(COL4A3):c.3919G>A (p.Gly1307Ser) SNV
Germline		 Chr2:227303074 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598338
NM_000092.5(COL4A4):c.193G>C (p.Gly65Arg) SNV
Germline		 Chr2:227121148 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598339
NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val) SNV
Germline		 Chr2:227282479 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598344
NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu) SNV
Germline		 Chr2:227305030 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV004598355
NM_033380.3(COL4A5):c.1537C>T (p.Gln513Ter) SNV
Germline		 ChrX:108597018 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598375
NM_000092.5(COL4A4):c.2375G>A (p.Gly792Glu) SNV
Germline		 Chr2:227059413 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598387
NM_000091.5(COL4A3):c.3947G>T (p.Gly1316Val) SNV
Germline		 Chr2:227303102 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598388
NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp) SNV
Germline		 Chr2:227303057 Likely pathogenic Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004598396RCV005023597
NM_000092.5(COL4A4):c.1544G>A (p.Gly515Glu) SNV
Germline		 Chr2:227088732 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598413
NM_000092.5(COL4A4):c.1981C>T (p.Gln661Ter) SNV
Germline		 Chr2:227077900 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598417
NM_000092.5(COL4A4):c.3080G>T (p.Gly1027Val) SNV
Germline		 Chr2:227051047 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598418
NM_000091.5(COL4A3):c.889-1G>A SNV
Germline		 Chr2:227256025 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598500
NM_000092.5(COL4A4):c.1724G>C (p.Gly575Ala) SNV
Germline		 Chr2:227080522 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598512
NM_033380.3(COL4A5):c.4769C>G (p.Pro1590Arg) SNV
Germline		 ChrX:108694869 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598515
NM_000092.5(COL4A4):c.1352G>T (p.Gly451Val) SNV
Germline		 Chr2:227094142 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598517
NM_033380.3(COL4A5):c.809G>T (p.Gly270Val) SNV
Germline		 ChrX:108580561 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598524
NM_000091.5(COL4A3):c.3539G>A (p.Gly1180Asp) SNV
Germline		 Chr2:227295290 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598531
NM_000092.5(COL4A4):c.509G>A (p.Gly170Glu) SNV
Germline		 Chr2:227114677 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004598536RCV006489047
NM_000092.5(COL4A4):c.4082-1G>C SNV
Germline		 Chr2:227025811 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004598539
NM_033380.3(COL4A5):c.3562G>A (p.Gly1188Ser) SNV
Germline		 ChrX:108667141 Conflicting classifications of pathogenicity not specified
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690534RCV005040747
NM_000091.5(COL4A3):c.1541G>C (p.Gly514Ala) SNV
Germline		 Chr2:227269946 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690580RCV005017207
NM_000092.5(COL4A4):c.2252G>C (p.Gly751Ala) SNV
Germline		 Chr2:227059536 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690598RCV005023631
NM_000092.5(COL4A4):c.3470G>A (p.Gly1157Glu) SNV
Germline		 Chr2:227042183 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690783RCV005017209
NM_000092.5(COL4A4):c.3469G>C (p.Gly1157Arg) SNV
Germline		 Chr2:227042184 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690784RCV005017210
NM_000092.5(COL4A4):c.3679G>C (p.Gly1227Arg) SNV
Germline		 Chr2:227032175 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690785RCV005023632
NM_000092.5(COL4A4):c.458G>A (p.Gly153Glu) SNV
Germline		 Chr2:227118676 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690786RCV005017211
NM_000091.5(COL4A3):c.952G>A (p.Gly318Ser) SNV
Germline		 Chr2:227256361 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV004690799RCV005023633RCV006613446
NM_033380.3(COL4A5):c.1525G>A (p.Gly509Ser) SNV
Germline		 ChrX:108597006 Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690995
NM_000091.5(COL4A3):c.4190G>A (p.Gly1397Glu) SNV
Germline		 Chr2:227305021 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004691001RCV005023637
NM_000091.5(COL4A3):c.443G>A (p.Gly148Asp) SNV
Germline		 Chr2:227247559 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004691002RCV005017213
NM_000091.5(COL4A3):c.441+5G>T SNV
Germline		 Chr2:227246743 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005638216
NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg) SNV
Germline		 Chr2:227294570 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004698939
NM_000092.5(COL4A4):c.2663G>A (p.Gly888Glu) SNV
Germline		 Chr2:227055998 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004698943
NM_000092.5(COL4A4):c.605G>A (p.Gly202Asp) SNV
Germline		 Chr2:227109276 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005017219RCV004699995
NM_000091.5(COL4A3):c.4207G>A (p.Gly1403Arg) SNV
Germline		 Chr2:227305038 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004700100RCV005023651
NM_000092.5(COL4A4):c.4324G>C (p.Gly1442Arg) SNV
Germline		 Chr2:227012190 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701193RCV005023652
NM_000092.5(COL4A4):c.4315G>T (p.Gly1439Cys) SNV
Germline		 Chr2:227012199 Conflicting classifications of pathogenicity not specified
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701194RCV005023653
NM_000091.5(COL4A3):c.3821G>A (p.Gly1274Asp) SNV
Germline		 Chr2:227298751 Conflicting classifications of pathogenicity not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701210RCV005023654
NM_033380.3(COL4A5):c.1894G>A (p.Gly632Ser) SNV
Germline		 ChrX:108598816 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004703374
NM_000092.5(COL4A4):c.3515G>T (p.Gly1172Val) SNV
Germline		 Chr2:227033472 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004720720
NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu) SNV
Germline		 Chr2:227273031 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004720721
NM_000092.5(COL4A4):c.1565G>A (p.Trp522Ter) SNV
Germline		 Chr2:227088711 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004720731RCV005023660
NM_033380.3(COL4A5):c.3703G>A (p.Gly1235Ser) SNV
Germline		 ChrX:108668417 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004720737
NM_033380.3(COL4A5):c.556G>C (p.Gly186Arg) SNV
Germline		 ChrX:108575919 Pathogenic COL4A5-related disorder
X-linked Alport syndrome		 Criteria Provided
Single Submitter

2 SubmittersRCV004748005RCV005040763
NM_000091.5(COL4A3):c.3920G>A (p.Gly1307Asp) SNV
Unknown		 Chr2:227303075 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004759591
NM_000091.5(COL4A3):c.2962G>T (p.Gly988Ter) SNV
Germline		 Chr2:227289230 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004764716
NM_000092.5(COL4A4):c.3827G>A (p.Gly1276Glu) SNV
Germline		 Chr2:227030589 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004776344
NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala) SNV
Germline		 Chr2:227256371 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004776352
NM_033380.3(COL4A5):c.3445G>A (p.Gly1149Ser) SNV
Germline		 ChrX:108665578 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004776362
NM_000091.5(COL4A3):c.4154G>A (p.Gly1385Glu) SNV
Germline		 Chr2:227304985 Likely pathogenic Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004776844RCV005023707
NM_000091.5(COL4A3):c.1724G>A (p.Gly575Glu) SNV
Germline		 Chr2:227270918 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004781984RCV005935627
NM_033380.3(COL4A5):c.3553+1G>T SNV
Germline		 ChrX:108666595 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004782127
NM_000092.5(COL4A4):c.3715G>A (p.Gly1239Arg) SNV
Germline		 Chr2:227032047 Pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004787183
NM_000092.5(COL4A4):c.74C>G (p.Ser25Ter) SNV
Germline		 Chr2:227144556 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788201
NM_000091.5(COL4A3):c.2294G>A (p.Gly765Glu) SNV
Germline		 Chr2:227280510 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788232
NM_000092.5(COL4A4):c.2437G>A (p.Gly813Arg) SNV
Germline		 Chr2:227057547 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788246
NM_000092.5(COL4A4):c.1535G>T (p.Gly512Val) SNV
Germline		 Chr2:227088741 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788268
NM_000092.5(COL4A4):c.3052G>C (p.Gly1018Arg) SNV
Germline		 Chr2:227051075 Pathogenic/Likely pathogenic Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV004788292RCV005023713RCV005632749
NM_000092.5(COL4A4):c.1979G>A (p.Gly660Asp) SNV
Germline		 Chr2:227077902 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788319
NM_000091.5(COL4A3):c.2470G>A (p.Gly824Arg) SNV
Germline		 Chr2:227280988 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788337
NM_000092.5(COL4A4):c.4333+2T>G SNV
Germline		 Chr2:227012179 Pathogenic/Likely pathogenic Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788342RCV005023714
NM_000092.5(COL4A4):c.1267G>A (p.Gly423Ser) SNV
Germline		 Chr2:227094227 Likely pathogenic Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788343RCV005023715
NM_000092.5(COL4A4):c.129C>G (p.Tyr43Ter) SNV
Germline		 Chr2:227140224 Pathogenic/Likely pathogenic Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788344RCV005017279
NM_000091.5(COL4A3):c.637G>C (p.Gly213Arg) SNV
Germline		 Chr2:227251363 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788441
NM_000092.5(COL4A4):c.4027G>A (p.Gly1343Arg) SNV
Germline		 Chr2:227027956 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788442
NM_000092.5(COL4A4):c.3697G>C (p.Gly1233Arg) SNV
Germline		 Chr2:227032157 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788444
NM_000092.5(COL4A4):c.818G>A (p.Gly273Asp) SNV
Germline		 Chr2:227103196 Likely pathogenic Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788446RCV005017280
NM_000091.5(COL4A3):c.619G>C (p.Gly207Arg) SNV
Germline		 Chr2:227251345 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788511
NM_000092.5(COL4A4):c.1259G>A (p.Gly420Glu) SNV
Germline		 Chr2:227094235 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV004788516RCV004791733
NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp) SNV
Germline		 Chr2:227297791 Pathogenic/Likely pathogenic Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788644RCV005023716
NM_000092.5(COL4A4):c.3398-1G>C SNV
Germline		 Chr2:227042256 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788647
NM_000091.5(COL4A3):c.2657G>A (p.Gly886Asp) SNV
Germline		 Chr2:227283767 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004788650RCV005105062
NM_000091.5(COL4A3):c.3283G>A (p.Gly1095Arg) SNV
Germline		 Chr2:227293263 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788653
NM_000092.5(COL4A4):c.3817G>T (p.Gly1273Ter) SNV
Germline		 Chr2:227031945 Pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788655
NM_000091.5(COL4A3):c.689G>A (p.Gly230Asp) SNV
Germline		 Chr2:227253562 Pathogenic Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788657RCV005648339
NM_000092.5(COL4A4):c.2545G>A (p.Gly849Ser) SNV
Germline		 Chr2:227057439 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004788658
NM_000091.5(COL4A3):c.2125G>T (p.Gly709Ter) SNV
Germline		 Chr2:227277553 Pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004789963
NM_000092.5(COL4A4):c.3497G>A (p.Gly1166Glu) SNV
Germline		 Chr2:227042156 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004789965
NM_000091.5(COL4A3):c.3655G>T (p.Gly1219Cys) SNV
Germline		 Chr2:227297763 Pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004789967
NM_000092.5(COL4A4):c.1442G>T (p.Gly481Val) SNV
Germline		 Chr2:227089885 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

2 SubmittersRCV004789972
NM_000091.5(COL4A3):c.1927+1G>A SNV
Germline		 Chr2:227273118 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

2 SubmittersRCV004789979
NM_000092.5(COL4A4):c.3098G>A (p.Gly1033Asp) SNV
Germline		 Chr2:227051029 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004790088
NM_000091.5(COL4A3):c.226G>A (p.Gly76Arg) SNV
Germline		 Chr2:227240224 Conflicting classifications of pathogenicity Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004790097RCV005105068
NM_033380.3(COL4A5):c.1912G>C (p.Gly638Arg) SNV
Germline		 ChrX:108598834 Pathogenic/Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004791092RCV006565355
NM_033380.3(COL4A5):c.2482G>C (p.Gly828Arg) SNV
Germline		 ChrX:108614997 Likely pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004791093RCV005040797
NM_000092.5(COL4A4):c.967G>T (p.Gly323Ter) SNV
Germline		 Chr2:227101873 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004796905
NM_033380.3(COL4A5):c.3400G>C (p.Gly1134Arg) SNV
Germline		 ChrX:108665533 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004797406
NM_033380.3(COL4A5):c.2228G>T (p.Gly743Val) SNV
Germline		 ChrX:108603045 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004795801
NM_033380.3(COL4A5):c.2933C>A (p.Ser978Ter) SNV
Germline		 ChrX:108624251 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004795822
NM_033380.3(COL4A5):c.1216G>T (p.Gly406Cys) SNV
Germline		 ChrX:108591108 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004795832
NM_033380.3(COL4A5):c.3997G>C (p.Gly1333Arg) SNV
Germline		 ChrX:108680733 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004797657
NM_000092.5(COL4A4):c.2224G>C (p.Gly742Arg) SNV
Germline		 Chr2:227059564 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004797684
NM_000091.5(COL4A3):c.2374G>A (p.Gly792Arg) SNV
Germline		 Chr2:227280590 Pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV004813538
NM_000092.5(COL4A4):c.658-1G>C SNV
Germline		 Chr2:227108869 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004820328
NM_033380.3(COL4A5):c.215G>T (p.Gly72Val) SNV
Germline		 ChrX:108559137 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004820336
NM_000092.5(COL4A4):c.604G>T (p.Gly202Cys) SNV
Germline		 Chr2:227109277 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004820352
NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg) SNV
Germline		 Chr2:227290034 Conflicting classifications of pathogenicity Inborn genetic diseases
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004978914RCV005017331
NM_000092.5(COL4A4):c.4814C>T (p.Thr1605Ile) SNV
Germline		 Chr2:227007584 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024103RCV006489173
NM_000092.5(COL4A4):c.4157G>A (p.Gly1386Asp) SNV
Germline		 Chr2:227022107 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020680
NM_000092.5(COL4A4):c.4091-1G>A SNV
Germline		 Chr2:227022174 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020682RCV005112762
NM_000092.5(COL4A4):c.4081G>T (p.Gly1361Cys) SNV
Germline		 Chr2:227027902 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020685
NM_000092.5(COL4A4):c.4046G>T (p.Gly1349Val) SNV
Germline		 Chr2:227027937 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020686
NM_000092.5(COL4A4):c.3955G>A (p.Gly1319Arg) SNV
Germline		 Chr2:227030461 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020689
NM_000092.5(COL4A4):c.3901G>C (p.Gly1301Arg) SNV
Germline		 Chr2:227030515 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024111
NM_000092.5(COL4A4):c.3817+1G>T SNV
Germline		 Chr2:227031944 Pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020691
NM_000092.5(COL4A4):c.3817+1G>A SNV
Germline		 Chr2:227031944 Pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020692
NM_000092.5(COL4A4):c.3809G>A (p.Gly1270Asp) SNV
Germline		 Chr2:227031953 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020693
NM_000092.5(COL4A4):c.3787C>T (p.Gln1263Ter) SNV
Germline		 Chr2:227031975 Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020694RCV006489175
NM_000092.5(COL4A4):c.3698G>C (p.Gly1233Ala) SNV
Germline		 Chr2:227032156 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024114
NM_000092.5(COL4A4):c.3689G>T (p.Gly1230Val) SNV
Germline		 Chr2:227032165 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020695
NM_000092.5(COL4A4):c.3578-2A>C SNV
Germline		 Chr2:227032278 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020697
NM_000092.5(COL4A4):c.3577+2T>G SNV
Germline		 Chr2:227033408 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020698
NM_000092.5(COL4A4):c.3523G>C (p.Gly1175Arg) SNV
Germline		 Chr2:227033464 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020701
NM_000092.5(COL4A4):c.3415G>C (p.Gly1139Arg) SNV
Germline		 Chr2:227042238 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024120
NM_000092.5(COL4A4):c.3352G>A (p.Gly1118Arg) SNV
Germline		 Chr2:227043122 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024122
NM_000092.5(COL4A4):c.3316G>A (p.Gly1106Ser) SNV
Germline		 Chr2:227043158 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020705
NM_000092.5(COL4A4):c.3290-2A>C SNV
Germline		 Chr2:227043186 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024125
NM_000092.5(COL4A4):c.3197G>T (p.Gly1066Val) SNV
Germline		 Chr2:227050085 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020708RCV005250388
NM_000092.5(COL4A4):c.3178G>C (p.Gly1060Arg) SNV
Germline		 Chr2:227050104 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024128
NM_000092.5(COL4A4):c.3161G>T (p.Gly1054Val) SNV
Germline		 Chr2:227050121 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005024129RCV005632807
NM_000092.5(COL4A4):c.3052G>A (p.Gly1018Ser) SNV
Germline		 Chr2:227051075 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024134
NM_000092.5(COL4A4):c.3013G>A (p.Gly1005Arg) SNV
Germline		 Chr2:227051114 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024137
NM_000092.5(COL4A4):c.2968+1G>A SNV
Germline		 Chr2:227052304 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024138
NM_000092.5(COL4A4):c.2762G>A (p.Gly921Glu) SNV
Germline		 Chr2:227054692 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024147
NM_000092.5(COL4A4):c.2734G>T (p.Gly912Cys) SNV
Germline		 Chr2:227054720 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter

2 SubmittersRCV005024148RCV005937632
NM_000092.5(COL4A4):c.2609G>C (p.Gly870Ala) SNV
Germline		 Chr2:227056052 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020711
NM_000092.5(COL4A4):c.2608G>C (p.Gly870Arg) SNV
Germline		 Chr2:227056053 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020712
NM_000092.5(COL4A4):c.2563G>A (p.Gly855Arg) SNV
Germline		 Chr2:227056098 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024155
NM_000092.5(COL4A4):c.2519G>A (p.Gly840Glu) SNV
Germline		 Chr2:227057465 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020717
NM_000092.5(COL4A4):c.2501G>A (p.Gly834Glu) SNV
Germline		 Chr2:227057483 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024156
NM_000092.5(COL4A4):c.2464G>C (p.Gly822Arg) SNV
Germline		 Chr2:227057520 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020719
NM_000092.5(COL4A4):c.2419G>T (p.Gly807Cys) SNV
Germline		 Chr2:227057565 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005024158RCV006270656
NM_000092.5(COL4A4):c.2302G>T (p.Gly768Ter) SNV
Germline		 Chr2:227059486 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020721
NM_000092.5(COL4A4):c.2251G>A (p.Gly751Arg) SNV
Germline		 Chr2:227059537 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020724
NM_000092.5(COL4A4):c.2243G>C (p.Gly748Ala) SNV
Germline		 Chr2:227059545 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024161
NM_000092.5(COL4A4):c.2165-1G>A SNV
Germline		 Chr2:227059624 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020725
NM_000092.5(COL4A4):c.2075G>T (p.Gly692Val) SNV
Germline		 Chr2:227060225 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024162
NM_000092.5(COL4A4):c.1988-2A>G SNV
Germline		 Chr2:227062600 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024163
NM_000092.5(COL4A4):c.1951G>A (p.Gly651Ser) SNV
Germline		 Chr2:227077930 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024165
NM_000092.5(COL4A4):c.1925G>T (p.Gly642Val) SNV
Germline		 Chr2:227077956 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020731
NM_000092.5(COL4A4):c.1915G>C (p.Gly639Arg) SNV
Germline		 Chr2:227077966 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020732
NM_000092.5(COL4A4):c.1874G>A (p.Gly625Glu) SNV
Germline		 Chr2:227078007 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Inborn genetic diseases
Alport syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV005024166RCV005537765RCV006249937
NM_000092.5(COL4A4):c.1804-1G>C SNV
Germline		 Chr2:227078078 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024167
NM_000092.5(COL4A4):c.1777G>T (p.Gly593Ter) SNV
Germline		 Chr2:227080469 Pathogenic/Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020734RCV005235786
NM_000092.5(COL4A4):c.1697-2A>C SNV
Germline		 Chr2:227080551 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024169
NM_000092.5(COL4A4):c.1624-2A>G SNV
Germline		 Chr2:227082189 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024171
NM_000092.5(COL4A4):c.1499G>T (p.Gly500Val) SNV
Germline		 Chr2:227088777 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024175
NM_000092.5(COL4A4):c.1352G>A (p.Gly451Asp) SNV
Germline		 Chr2:227094142 Pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024177
NM_000092.5(COL4A4):c.1351G>A (p.Gly451Ser) SNV
Germline		 Chr2:227094143 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020745RCV005112768
NM_000092.5(COL4A4):c.1315G>A (p.Gly439Arg) SNV
Germline		 Chr2:227094179 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024178
NM_000092.5(COL4A4):c.1268G>A (p.Gly423Asp) SNV
Germline		 Chr2:227094226 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024180
NM_000092.5(COL4A4):c.1240G>A (p.Gly414Ser) SNV
Germline		 Chr2:227094254 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020747
NM_000092.5(COL4A4):c.1222G>A (p.Gly408Arg) SNV
Germline		 Chr2:227094272 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024182
NM_000092.5(COL4A4):c.1172G>A (p.Gly391Asp) SNV
Germline		 Chr2:227098726 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024183
NM_000092.5(COL4A4):c.1099G>C (p.Gly367Arg) SNV
Germline		 Chr2:227099620 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020752
NM_000092.5(COL4A4):c.1049G>A (p.Gly350Glu) SNV
Germline		 Chr2:227099670 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020753
NM_000092.5(COL4A4):c.1003G>T (p.Gly335Trp) SNV
Germline		 Chr2:227101530 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020754RCV005250389
NM_000092.5(COL4A4):c.995G>C (p.Gly332Ala) SNV
Germline		 Chr2:227101538 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024187
NM_000092.5(COL4A4):c.975G>T (p.Lys325Asn) SNV
Germline		 Chr2:227101865 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter

2 SubmittersRCV005020755RCV005937633
NM_000092.5(COL4A4):c.914G>T (p.Gly305Val) SNV
Germline		 Chr2:227102805 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020756
NM_000092.5(COL4A4):c.870+1G>C SNV
Germline		 Chr2:227103143 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020758
NM_000092.5(COL4A4):c.845G>A (p.Gly282Glu) SNV
Germline		 Chr2:227103169 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020759
NM_000092.5(COL4A4):c.816+4A>G SNV
Germline		 Chr2:227103968 Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome
Hematuria, benign familial, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005020763RCV005112769
NM_000092.5(COL4A4):c.685G>A (p.Gly229Ser) SNV
Germline		 Chr2:227108841 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020768
NM_000092.5(COL4A4):c.659G>A (p.Gly220Glu) SNV
Germline		 Chr2:227108867 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024192
NM_000092.5(COL4A4):c.623G>T (p.Gly208Val) SNV
Germline		 Chr2:227109258 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020770
NM_000092.5(COL4A4):c.623G>A (p.Gly208Asp) SNV
Germline		 Chr2:227109258 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020771
NM_000092.5(COL4A4):c.604G>A (p.Gly202Ser) SNV
Germline		 Chr2:227109277 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020773
NM_000092.5(COL4A4):c.594+1G>C SNV
Germline		 Chr2:227111677 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020774
NM_000092.5(COL4A4):c.560G>T (p.Gly187Val) SNV
Germline		 Chr2:227111712 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020775
NM_000092.5(COL4A4):c.490-6T>G SNV
Germline		 Chr2:227114702 Conflicting classifications of pathogenicity Hematuria, benign familial, 1
Autosomal recessive Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024195RCV005365376
NM_000092.5(COL4A4):c.489+2T>C SNV
Germline		 Chr2:227118643 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020777
NM_000092.5(COL4A4):c.401G>A (p.Gly134Asp) SNV
Germline		 Chr2:227118733 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020778
NM_000092.5(COL4A4):c.292G>A (p.Gly98Ser) SNV
Germline		 Chr2:227121049 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024199
NM_000092.5(COL4A4):c.203G>T (p.Gly68Val) SNV
Germline		 Chr2:227121138 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024200
NM_000092.5(COL4A4):c.203G>A (p.Gly68Glu) SNV
Germline		 Chr2:227121138 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024201
NM_000092.5(COL4A4):c.194G>T (p.Gly65Val) SNV
Germline		 Chr2:227121147 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005024203
NM_000092.5(COL4A4):c.141T>A (p.Cys47Ter) SNV
Germline		 Chr2:227140212 Likely pathogenic Hematuria, benign familial, 1
Autosomal recessive Alport syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005020786
NM_000091.5(COL4A3):c.163G>A (p.Gly55Arg) SNV
Germline		 Chr2:227240161 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020791
NM_000091.5(COL4A3):c.172G>C (p.Gly58Arg) SNV
Germline		 Chr2:227240170 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020792
NM_000091.5(COL4A3):c.227G>T (p.Gly76Val) SNV
Germline		 Chr2:227240225 Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005020793RCV006489179
NM_000091.5(COL4A3):c.235-2A>T SNV
Germline		 Chr2:227244318 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024206
NM_000091.5(COL4A3):c.245G>T (p.Gly82Val) SNV
Germline		 Chr2:227244330 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024207
NM_000091.5(COL4A3):c.272G>T (p.Gly91Val) SNV
Germline		 Chr2:227244357 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020796
NM_000091.5(COL4A3):c.280-1G>A SNV
Germline		 Chr2:227244950 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020798
NM_000091.5(COL4A3):c.308G>A (p.Gly103Asp) SNV
Germline		 Chr2:227244979 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020800
NM_000091.5(COL4A3):c.415G>A (p.Gly139Arg) SNV
Germline		 Chr2:227246712 Pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020802
NM_000091.5(COL4A3):c.529G>A (p.Gly177Arg) SNV
Germline		 Chr2:227248503 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020804
NM_000091.5(COL4A3):c.539G>A (p.Gly180Glu) SNV
Germline		 Chr2:227248513 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024212RCV006617382
NM_000091.5(COL4A3):c.584G>T (p.Gly195Val) SNV
Germline		 Chr2:227251177 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024215
NM_000091.5(COL4A3):c.602G>A (p.Gly201Glu) SNV
Germline		 Chr2:227251195 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024216
NM_000091.5(COL4A3):c.766-2A>T SNV
Germline		 Chr2:227254110 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024220
NM_000091.5(COL4A3):c.802G>A (p.Gly268Ser) SNV
Germline		 Chr2:227254148 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024223
NM_000091.5(COL4A3):c.821G>A (p.Gly274Glu) SNV
Germline		 Chr2:227254167 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024224
NM_000091.5(COL4A3):c.829-1G>A SNV
Germline		 Chr2:227254655 Likely pathogenic Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005024225RCV005622297
NM_000091.5(COL4A3):c.917G>T (p.Gly306Val) SNV
Germline		 Chr2:227256054 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024228
NM_000091.5(COL4A3):c.934G>A (p.Gly312Arg) SNV
Germline		 Chr2:227256343 Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024229RCV006489181
NM_000091.5(COL4A3):c.943G>A (p.Gly315Ser) SNV
Germline		 Chr2:227256352 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024231
NM_000091.5(COL4A3):c.987+1G>T SNV
Germline		 Chr2:227256397 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024232
NM_000091.5(COL4A3):c.997G>C (p.Gly333Arg) SNV
Germline		 Chr2:227257612 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024234
NM_000091.5(COL4A3):c.1029+1G>C SNV
Germline		 Chr2:227257645 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024236
NM_000091.5(COL4A3):c.1114G>T (p.Gly372Cys) SNV
Germline		 Chr2:227259877 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020808
NM_000091.5(COL4A3):c.1151-1G>A SNV
Germline		 Chr2:227263779 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020809
NM_000091.5(COL4A3):c.1400G>A (p.Gly467Glu) SNV
Germline		 Chr2:227266501 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024243
NM_000091.5(COL4A3):c.1477G>A (p.Gly493Arg) SNV
Germline		 Chr2:227267061 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024244
NM_000091.5(COL4A3):c.1585G>C (p.Gly529Arg) SNV
Germline		 Chr2:227270779 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024247
NM_000091.5(COL4A3):c.1595G>A (p.Gly532Asp) SNV
Germline		 Chr2:227270789 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024248
NM_000091.5(COL4A3):c.1822G>C (p.Gly608Arg) SNV
Germline		 Chr2:227273012 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024249
NM_000091.5(COL4A3):c.1832G>T (p.Gly611Val) SNV
Germline		 Chr2:227273022 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024250
NM_000091.5(COL4A3):c.1892G>C (p.Gly631Ala) SNV
Germline		 Chr2:227273082 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020819
NM_000091.5(COL4A3):c.2008C>T (p.Gln670Ter) SNV
Germline		 Chr2:227276465 Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020823RCV006249938
NM_000091.5(COL4A3):c.2011G>C (p.Gly671Arg) SNV
Germline		 Chr2:227276468 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024251RCV005112773
NM_000091.5(COL4A3):c.2020+1G>A SNV
Germline		 Chr2:227276478 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020824
NM_000091.5(COL4A3):c.2030G>T (p.Gly677Val) SNV
Germline		 Chr2:227277458 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020825
NM_000091.5(COL4A3):c.2039G>A (p.Gly680Glu) SNV
Germline		 Chr2:227277467 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024252
NM_000091.5(COL4A3):c.2143G>A (p.Gly715Ser) SNV
Germline		 Chr2:227279810 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020829
NM_000091.5(COL4A3):c.2188G>A (p.Gly730Arg) SNV
Germline		 Chr2:227279855 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020830
NM_000091.5(COL4A3):c.2257G>C (p.Gly753Arg) SNV
Germline		 Chr2:227280473 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024255
NM_000091.5(COL4A3):c.2267G>C (p.Gly756Ala) SNV
Germline		 Chr2:227280483 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020831
NM_000091.5(COL4A3):c.2347G>C (p.Gly783Arg) SNV
Germline		 Chr2:227280563 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020834
NM_000091.5(COL4A3):c.2392G>A (p.Gly798Arg) SNV
Germline		 Chr2:227280910 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020835
NM_000091.5(COL4A3):c.2507G>T (p.Gly836Val) SNV
Germline		 Chr2:227282383 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020836
NM_000091.5(COL4A3):c.2629G>A (p.Gly877Arg) SNV
Germline		 Chr2:227282505 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024260RCV005112775
NM_000091.5(COL4A3):c.2765G>A (p.Gly922Glu) SNV
Germline		 Chr2:227284229 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024261
NM_000091.5(COL4A3):c.2945G>A (p.Gly982Asp) SNV
Germline		 Chr2:227289213 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020842
NM_000091.5(COL4A3):c.2954G>A (p.Gly985Glu) SNV
Germline		 Chr2:227289222 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020844
NM_000091.5(COL4A3):c.2962G>C (p.Gly988Arg) SNV
Germline		 Chr2:227289230 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024264
NM_000091.5(COL4A3):c.2980+2T>G SNV
Germline		 Chr2:227289250 Pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020845
NM_000091.5(COL4A3):c.3007G>A (p.Gly1003Arg) SNV
Germline		 Chr2:227290025 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020848
NM_000091.5(COL4A3):c.3035G>A (p.Gly1012Asp) SNV
Germline		 Chr2:227290053 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020849
NM_000091.5(COL4A3):c.3061G>A (p.Gly1021Ser) SNV
Germline		 Chr2:227290079 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020850
NM_000091.5(COL4A3):c.3071-2A>G SNV
Germline		 Chr2:227290745 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024267
NM_000091.5(COL4A3):c.3079G>A (p.Gly1027Arg) SNV
Germline		 Chr2:227290755 Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024268RCV005112776
NM_000091.5(COL4A3):c.3097G>A (p.Gly1033Arg) SNV
Germline		 Chr2:227290773 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024269
NM_000091.5(COL4A3):c.3106G>A (p.Gly1036Ser) SNV
Germline		 Chr2:227290782 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020852
NM_000091.5(COL4A3):c.3133G>C (p.Gly1045Arg) SNV
Germline		 Chr2:227290809 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020854
NM_000091.5(COL4A3):c.3203G>A (p.Gly1068Glu) SNV
Germline		 Chr2:227290879 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005020858RCV006617383
NM_000091.5(COL4A3):c.3211-1G>T SNV
Germline		 Chr2:227293190 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005020860
NM_000091.5(COL4A3):c.3248G>A (p.Gly1083Glu) SNV
Germline		 Chr2:227293228 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024271
NM_000091.5(COL4A3):c.3256G>A (p.Gly1086Arg) SNV
Germline		 Chr2:227293236 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024274
NM_000091.5(COL4A3):c.3310G>C (p.Gly1104Arg) SNV
Germline		 Chr2:227293290 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024276
NM_000091.5(COL4A3):c.3311G>C (p.Gly1104Ala) SNV
Germline		 Chr2:227293291 Likely pathogenic Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005024277RCV005632808
NM_000091.5(COL4A3):c.3409G>A (p.Gly1137Ser) SNV
Germline		 Chr2:227294561 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024283
NM_000091.5(COL4A3):c.3409G>C (p.Gly1137Arg) SNV
Germline		 Chr2:227294561 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024284
NM_000091.5(COL4A3):c.3418G>T (p.Gly1140Cys) SNV
Germline		 Chr2:227294570 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024285
NM_000091.5(COL4A3):c.3419-2A>C SNV
Germline		 Chr2:227294962 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024286
NM_000091.5(COL4A3):c.3517+1G>T SNV
Germline		 Chr2:227295063 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024289
NM_000091.5(COL4A3):c.3620G>T (p.Gly1207Val) SNV
Germline		 Chr2:227297728 Pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024295
NM_000091.5(COL4A3):c.3674G>A (p.Gly1225Glu) SNV
Germline		 Chr2:227297782 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024296RCV006617384
NM_000091.5(COL4A3):c.3682G>A (p.Gly1228Ser) SNV
Germline		 Chr2:227297790 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024297
NM_000091.5(COL4A3):c.3839G>A (p.Gly1280Asp) SNV
Germline		 Chr2:227298769 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024301
NM_000091.5(COL4A3):c.3856G>A (p.Gly1286Arg) SNV
Germline		 Chr2:227298786 Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024303RCV006489186
NM_000091.5(COL4A3):c.3875G>C (p.Gly1292Ala) SNV
Germline		 Chr2:227298805 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024304
NM_000091.5(COL4A3):c.3882+5G>C SNV
Germline		 Chr2:227298817 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024305
NM_000091.5(COL4A3):c.3965G>A (p.Gly1322Asp) SNV
Germline		 Chr2:227303868 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024306
NM_000091.5(COL4A3):c.4009G>A (p.Gly1337Arg) SNV
Germline		 Chr2:227303912 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024307
NM_000091.5(COL4A3):c.4028-2A>C SNV
Germline		 Chr2:227304017 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024309
NM_000091.5(COL4A3):c.4028-2A>G SNV
Germline		 Chr2:227304017 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024310
NM_000091.5(COL4A3):c.4289G>T (p.Gly1430Val) SNV
Germline		 Chr2:227307746 Likely pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024314
NM_000091.5(COL4A3):c.4847G>A (p.Cys1616Tyr) SNV
Germline		 Chr2:227310867 Pathogenic Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive		 Criteria Provided
Single Submitter

1 SubmittersRCV005024329
NM_033380.3(COL4A5):c.2T>G (p.Met1Arg) SNV
Germline		 ChrX:108440127 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005048786
NM_033380.3(COL4A5):c.385-2A>C SNV
Germline		 ChrX:108571411 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005048793
NM_033380.3(COL4A5):c.465+1G>C SNV
Germline		 ChrX:108571838 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005049235RCV005867241
NM_033380.3(COL4A5):c.566G>T (p.Gly189Val) SNV
Germline		 ChrX:108575929 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049237
NM_033380.3(COL4A5):c.583G>T (p.Gly195Cys) SNV
Germline		 ChrX:108575946 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049239
NM_033380.3(COL4A5):c.780+1G>T SNV
Germline		 ChrX:108578384 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005048801
NM_033380.3(COL4A5):c.790G>A (p.Gly264Ser) SNV
Germline		 ChrX:108580542 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005048802
NM_033380.3(COL4A5):c.991G>A (p.Gly331Ser) SNV
Germline		 ChrX:108584484 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005048805
NM_033380.3(COL4A5):c.1010G>A (p.Gly337Asp) SNV
Germline		 ChrX:108584503 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005048807
NM_033380.3(COL4A5):c.1084G>T (p.Gly362Trp) SNV
Germline		 ChrX:108586666 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049243
NM_033380.3(COL4A5):c.1102G>A (p.Gly368Arg) SNV
Germline		 ChrX:108586684 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041470
NM_033380.3(COL4A5):c.1138G>A (p.Gly380Ser) SNV
Germline		 ChrX:108586720 Pathogenic/Likely pathogenic X-linked Alport syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005041471
NM_033380.3(COL4A5):c.1148G>T (p.Gly383Val) SNV
Germline		 ChrX:108586730 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041473
NM_033380.3(COL4A5):c.1156G>A (p.Gly386Arg) SNV
Germline		 ChrX:108586738 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005041474RCV006631294
NM_033380.3(COL4A5):c.1199G>T (p.Gly400Val) SNV
Germline		 ChrX:108591091 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041475
NM_033380.3(COL4A5):c.1267G>A (p.Gly423Arg) SNV
Germline		 ChrX:108591159 Likely pathogenic X-linked Alport syndrome
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter

2 SubmittersRCV005041476RCV005937667
NM_033380.3(COL4A5):c.1369G>T (p.Gly457Cys) SNV
Germline		 ChrX:108591590 Likely pathogenic X-linked Alport syndrome
Nonpapillary renal cell carcinoma
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter

2 SubmittersRCV005041479RCV005937668RCV005937669
NM_033380.3(COL4A5):c.1588-6T>G SNV
Germline		 ChrX:108597371 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041484
NM_033380.3(COL4A5):c.1682G>T (p.Gly561Val) SNV
Germline		 ChrX:108597471 Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005041486RCV005105340
NM_033380.3(COL4A5):c.1717G>C (p.Gly573Arg) SNV
Germline		 ChrX:108597506 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041487
NM_033380.3(COL4A5):c.1825G>A (p.Gly609Ser) SNV
Germline		 ChrX:108598747 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041492
NM_033380.3(COL4A5):c.1834G>A (p.Gly612Ser) SNV
Germline		 ChrX:108598756 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049247
NM_033380.3(COL4A5):c.1852G>C (p.Gly618Arg) SNV
Germline		 ChrX:108598774 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041493
NM_033380.3(COL4A5):c.2218G>A (p.Gly740Arg) SNV
Germline		 ChrX:108603035 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041501
NM_033380.3(COL4A5):c.2236G>A (p.Gly746Arg) SNV
Germline		 ChrX:108603053 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041502
NM_033380.3(COL4A5):c.2244G>A (p.Lys748=) SNV
Germline		 ChrX:108603061 Conflicting classifications of pathogenicity X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041503RCV005105342
NM_033380.3(COL4A5):c.2269G>A (p.Gly757Arg) SNV
Germline		 ChrX:108606766 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041505
NM_033380.3(COL4A5):c.2323G>A (p.Gly775Ser) SNV
Germline		 ChrX:108606820 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041506
NM_033380.3(COL4A5):c.2351G>A (p.Gly784Asp) SNV
Germline		 ChrX:108606848 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041507
NM_033380.3(COL4A5):c.2431G>C (p.Gly811Arg) SNV
Germline		 ChrX:108614946 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041509
NM_033380.3(COL4A5):c.2474G>A (p.Gly825Glu) SNV
Germline		 ChrX:108614989 Pathogenic/Likely pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005041511RCV006489301
NM_033380.3(COL4A5):c.2606G>C (p.Gly869Ala) SNV
Germline		 ChrX:108620355 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041513
NM_033380.3(COL4A5):c.2633G>C (p.Gly878Ala) SNV
Germline		 ChrX:108620382 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041515
NM_033380.3(COL4A5):c.2650G>A (p.Gly884Arg) SNV
Germline		 ChrX:108620399 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041517
NM_033380.3(COL4A5):c.2831G>A (p.Gly944Glu) SNV
Germline		 ChrX:108622739 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041519
NM_033380.3(COL4A5):c.3059T>C (p.Ile1020Thr) SNV
Germline		 ChrX:108625747 Conflicting classifications of pathogenicity X-linked Alport syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005041522RCV005806930
NM_033380.3(COL4A5):c.3061G>A (p.Gly1021Arg) SNV
Germline		 ChrX:108625749 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041524
NM_033380.3(COL4A5):c.3070G>A (p.Gly1024Arg) SNV
Germline		 ChrX:108625758 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041525
NM_033380.3(COL4A5):c.3400G>T (p.Gly1134Cys) SNV
Germline		 ChrX:108665533 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049257
NM_033380.3(COL4A5):c.3454+1G>C SNV
Germline		 ChrX:108665588 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041534
NM_033380.3(COL4A5):c.3490G>A (p.Gly1164Ser) SNV
Germline		 ChrX:108666531 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005041535RCV005105343
NM_033380.3(COL4A5):c.3553+1G>A SNV
Germline		 ChrX:108666595 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041538
NM_033380.3(COL4A5):c.3998G>C (p.Gly1333Ala) SNV
Germline		 ChrX:108680734 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041545
NM_033380.3(COL4A5):c.4052G>T (p.Gly1351Val) SNV
Germline		 ChrX:108680921 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049259
NM_033380.3(COL4A5):c.4060G>A (p.Gly1354Arg) SNV
Germline		 ChrX:108680929 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041546
NM_033380.3(COL4A5):c.4097G>A (p.Gly1366Glu) SNV
Germline		 ChrX:108681769 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041547
NM_033380.3(COL4A5):c.4171G>A (p.Gly1391Arg) SNV
Germline		 ChrX:108681843 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049260
NM_033380.3(COL4A5):c.4190G>T (p.Gly1397Val) SNV
Germline		 ChrX:108681862 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049261
NM_033380.3(COL4A5):c.4217-1G>C SNV
Germline		 ChrX:108686030 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049262
NM_033380.3(COL4A5):c.4306G>A (p.Gly1436Arg) SNV
Germline		 ChrX:108686120 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005049263
NM_033380.3(COL4A5):c.4315G>A (p.Gly1439Ser) SNV
Germline		 ChrX:108686129 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041552
NM_033380.3(COL4A5):c.4342G>A (p.Gly1448Ser) SNV
Germline		 ChrX:108687508 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041554
NM_033380.3(COL4A5):c.4369G>T (p.Gly1457Cys) SNV
Germline		 ChrX:108687535 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041556
NM_033380.3(COL4A5):c.4528G>A (p.Gly1510Arg) SNV
Germline		 ChrX:108687694 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005041559
NM_033380.3(COL4A5):c.3275G>A (p.Gly1092Glu) SNV
Unknown		 ChrX:108655359 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005001962
NM_033380.3(COL4A5):c.1516+1G>C SNV
Germline		 ChrX:108595602 Pathogenic X-linked Alport syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005001970RCV006484573
NM_033380.3(COL4A5):c.937G>C (p.Gly313Arg) SNV
Unknown		 ChrX:108582884 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005002109
NM_000091.5(COL4A3):c.1408+2T>A SNV
Unknown		 Chr2:227266511 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005002110
NM_033380.3(COL4A5):c.2885C>A (p.Ser962Ter) SNV
Germline		 ChrX:108622793 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005054025
NM_000091.5(COL4A3):c.236G>A (p.Gly79Asp) SNV
Germline		 Chr2:227244321 Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005065373RCV005417495
NM_000091.5(COL4A3):c.4027+1G>C SNV
Germline		 Chr2:227303931 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005088635
NM_033380.3(COL4A5):c.4334G>T (p.Gly1445Val) SNV
Germline		 ChrX:108687500 Conflicting classifications of pathogenicity Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005109469RCV006605427
NM_000091.5(COL4A3):c.1408+1G>T SNV
Germline		 Chr2:227266510 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005160952RCV005407394
NM_033380.3(COL4A5):c.2244+1G>A SNV
Germline		 ChrX:108603062 Pathogenic Condition: not provided
X-linked Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199215RCV005867315
NM_000091.5(COL4A3):c.2719G>T (p.Gly907Trp) SNV
Germline		 Chr2:227283829 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005230900
NM_000091.5(COL4A3):c.289G>A (p.Gly97Arg) SNV
Germline		 Chr2:227244960 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005230905
NM_000092.5(COL4A4):c.3724G>A (p.Gly1242Ser) SNV
Germline		 Chr2:227032038 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005250414
NM_000091.5(COL4A3):c.3025G>C (p.Gly1009Arg) SNV
Germline		 Chr2:227290043 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005251580
NM_033380.3(COL4A5):c.3800G>A (p.Gly1267Asp) SNV
Germline		 ChrX:108674745 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005251590
NM_033380.3(COL4A5):c.3943-1G>C SNV
Germline		 ChrX:108680678 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005255074
NM_033380.3(COL4A5):c.2615G>T (p.Gly872Val) SNV
Germline		 ChrX:108620364 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005252223
NM_033380.3(COL4A5):c.4885G>T (p.Glu1629Ter) SNV
Germline		 ChrX:108695330 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005252288
NM_033380.3(COL4A5):c.81+2T>G SNV
Germline		 ChrX:108440208 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005253592
NM_033380.3(COL4A5):c.3034G>T (p.Gly1012Cys) SNV
Germline		 ChrX:108625722 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005253597
NM_033380.3(COL4A5):c.1921G>C (p.Gly641Arg) SNV
Germline		 ChrX:108598843 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005253623
NM_033380.3(COL4A5):c.3865G>T (p.Glu1289Ter) SNV
Germline		 ChrX:108677556 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005254219
NM_033380.3(COL4A5):c.3979G>T (p.Gly1327Ter) SNV
Germline		 ChrX:108680715 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005254233
NM_000091.5(COL4A3):c.3760G>C (p.Gly1254Arg) SNV
Germline		 Chr2:227298690 Likely pathogenic Inborn genetic diseases
Alport syndrome
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005317234RCV006249949RCV006262030
NM_000091.5(COL4A3):c.687+1G>A SNV
Germline		 Chr2:227253338 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005403781
NM_033380.3(COL4A5):c.4543T>C (p.Cys1515Arg) SNV
Germline		 ChrX:108692762 Conflicting classifications of pathogenicity X-linked Alport syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV005403800
NM_033380.3(COL4A5):c.4423C>T (p.Gln1475Ter) SNV
Germline		 ChrX:108687589 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005403809
NM_033380.3(COL4A5):c.3500G>C (p.Gly1167Ala) SNV
Germline		 ChrX:108666541 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005405205
NM_033380.3(COL4A5):c.3817G>T (p.Gly1273Cys) SNV
Germline		 ChrX:108677508 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005432212
NM_000092.5(COL4A4):c.2879G>A (p.Gly960Glu) SNV
Germline		 Chr2:227052394 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005432222
NM_000091.5(COL4A3):c.3089G>A (p.Gly1030Glu) SNV
Germline		 Chr2:227290765 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005432248
NM_000091.5(COL4A3):c.3566-2A>T SNV
Germline		 Chr2:227297672 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005615256
NM_000091.5(COL4A3):c.1504+2T>C SNV
Germline		 Chr2:227267090 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005615261
NM_000091.5(COL4A3):c.1994G>A (p.Gly665Asp) SNV
Germline		 Chr2:227276451 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005615288
NM_000091.5(COL4A3):c.4929-2A>G SNV
Germline		 Chr2:227311784 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005615289
NM_000092.5(COL4A4):c.2164+1G>C SNV
Germline		 Chr2:227060135 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616849
NM_000092.5(COL4A4):c.1623+702T>A SNV
Germline		 Chr2:227087951 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616856
NM_000092.5(COL4A4):c.71+1G>C SNV
Germline		 Chr2:227147412 Pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616857
NM_000092.5(COL4A4):c.4081+1G>T SNV
Germline		 Chr2:227027901 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616859
NM_000092.5(COL4A4):c.1943G>A (p.Gly648Asp) SNV
Germline		 Chr2:227077938 Pathogenic Alport syndrome
Condition: not provided		 Criteria Provided
Single Submitter

2 SubmittersRCV005616873RCV006613590
NM_000092.5(COL4A4):c.3790G>A (p.Gly1264Arg) SNV
Germline		 Chr2:227031972 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616881
NM_000092.5(COL4A4):c.3262G>C (p.Gly1088Arg) SNV
Germline		 Chr2:227047502 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616893
NM_000092.5(COL4A4):c.3160G>C (p.Gly1054Arg) SNV
Germline		 Chr2:227050122 Likely pathogenic Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616894
NM_033380.3(COL4A5):c.1091C>T (p.Pro364Leu) SNV
Germline		 ChrX:108586673 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

2 SubmittersRCV005616918
NM_033380.3(COL4A5):c.3293G>C (p.Gly1098Ala) SNV
Germline		 ChrX:108655377 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616934
NM_033380.3(COL4A5):c.911G>A (p.Gly304Glu) SNV
Germline		 ChrX:108581002 Likely pathogenic X-linked Alport syndrome No Assertion Criteria Provided

1 SubmittersRCV005616936
NM_033380.3(COL4A5):c.3455-1G>A SNV
Germline		 ChrX:108666495 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005622917
NM_000091.5(COL4A3):c.1459G>C (p.Gly487Arg) SNV
Germline		 Chr2:227267043 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005623137
NM_000091.5(COL4A3):c.2575G>C (p.Gly859Arg) SNV
Germline		 Chr2:227282451 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005623143
NM_000091.5(COL4A3):c.4253-1G>C SNV
Germline		 Chr2:227307709 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005623163
NM_000092.5(COL4A4):c.293G>A (p.Gly98Asp) SNV
Unknown		 Chr2:227121048 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005637623
NM_033380.3(COL4A5):c.4444T>G (p.Cys1482Gly) SNV
Unknown		 ChrX:108687610 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005859374
NM_033380.3(COL4A5):c.2050G>A (p.Gly684Arg) SNV
Germline		 ChrX:108601893 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005859402
NM_033380.3(COL4A5):c.3353C>G (p.Pro1118Arg) SNV
Germline		 ChrX:108655437 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005860673
NM_033380.3(COL4A5):c.1339+1G>C SNV
Germline		 ChrX:108591232 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005860724
NM_000092.5(COL4A4):c.1855G>T (p.Gly619Cys) SNV
Germline		 Chr2:227078026 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005860816
NM_000091.5(COL4A3):c.4153+1G>A SNV
Germline		 Chr2:227304145 Pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005860952
NM_033380.3(COL4A5):c.143G>A (p.Gly48Glu) SNV
Germline		 ChrX:108559065 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005859728
NM_000091.5(COL4A3):c.593G>C (p.Gly198Ala) SNV
Germline		 Chr2:227251186 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005860002
NM_033380.3(COL4A5):c.3284G>T (p.Gly1095Val) SNV
Germline		 ChrX:108655368 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005865123
NM_000092.5(COL4A4):c.1803+2T>C SNV
Germline		 Chr2:227080441 Pathogenic/Likely pathogenic Alport syndrome
Pancreatic adenocarcinoma
Autosomal recessive Alport syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005865128RCV005938185RCV006449394
NM_000092.5(COL4A4):c.1460-2A>G SNV
Germline		 Chr2:227088818 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005880643
NM_000091.5(COL4A3):c.1390G>C (p.Gly464Arg) SNV
Germline		 Chr2:227266491 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005884426
NM_033380.3(COL4A5):c.698G>A (p.Gly233Asp) SNV
Germline		 ChrX:108578301 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005884437
NM_000092.5(COL4A4):c.1099G>T (p.Gly367Cys) SNV
Germline		 Chr2:227099620 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005884566
NM_033380.3(COL4A5):c.2245-40A>C SNV
Germline		 ChrX:108606702 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005885799
NM_033380.3(COL4A5):c.4599C>A (p.Cys1533Ter) SNV
Germline		 ChrX:108692818 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005885805
NM_033380.3(COL4A5):c.990+1G>A SNV
Germline		 ChrX:108582938 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005885812
NM_033380.3(COL4A5):c.1726G>C (p.Gly576Arg) SNV
Germline		 ChrX:108597515 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005880765
NM_000091.5(COL4A3):c.1150G>C (p.Gly384Arg) SNV
Germline		 Chr2:227261117 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005880868
NM_033380.3(COL4A5):c.809G>A (p.Gly270Glu) SNV
Germline		 ChrX:108580561 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005880908
NM_033380.3(COL4A5):c.574G>C (p.Gly192Arg) SNV
Germline		 ChrX:108575937 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005880999
NM_000091.5(COL4A3):c.2657-2A>C SNV
Germline		 Chr2:227283765 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005882709
NM_000092.5(COL4A4):c.1988G>T (p.Gly663Val) SNV
Germline		 Chr2:227062598 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005882779
NM_000091.5(COL4A3):c.2125+2T>C SNV
Germline		 Chr2:227277555 Likely pathogenic Alport syndrome 3b, autosomal recessive Criteria Provided
Single Submitter

1 SubmittersRCV005882864
NM_033380.3(COL4A5):c.4171G>T (p.Gly1391Trp) SNV
Germline		 ChrX:108681843 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006248543
NM_033380.3(COL4A5):c.3578G>A (p.Gly1193Glu) SNV
Germline		 ChrX:108667157 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006248799
NM_000091.5(COL4A3):c.3202G>A (p.Gly1068Arg) SNV
Germline		 Chr2:227290878 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006249274
NM_000091.5(COL4A3):c.2347G>A (p.Gly783Arg) SNV
Germline		 Chr2:227280563 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006249281
NM_000091.5(COL4A3):c.889G>A (p.Gly297Arg) SNV
Germline		 Chr2:227256026 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006249305
NM_000092.5(COL4A4):c.100C>T (p.Gln34Ter) SNV
Germline		 Chr2:227144530 Pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006249313
NM_000091.5(COL4A3):c.433G>A (p.Gly145Arg) SNV
Germline		 Chr2:227246730 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006249318
NM_000091.5(COL4A3):c.1016G>A (p.Gly339Glu) SNV
Germline		 Chr2:227257631 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006249326
NM_033380.3(COL4A5):c.1027G>A (p.Gly343Arg) SNV
Germline		 ChrX:108584520 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006249345
NM_000092.5(COL4A4):c.4333G>C (p.Gly1445Arg) SNV
Germline		 Chr2:227012181 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258042
NM_000092.5(COL4A4):c.3973G>C (p.Gly1325Arg) SNV
Germline		 Chr2:227030443 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258043
NM_000092.5(COL4A4):c.3602G>T (p.Gly1201Val) SNV
Germline		 Chr2:227032252 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258044
NM_000092.5(COL4A4):c.3205G>A (p.Gly1069Arg) SNV
Germline		 Chr2:227050077 Conflicting classifications of pathogenicity Alport syndrome
Hematuria
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV006258045RCV006262265RCV006613761
NM_000092.5(COL4A4):c.3142G>C (p.Gly1048Arg) SNV
Germline		 Chr2:227050985 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258046
NM_000092.5(COL4A4):c.2056+1G>C SNV
Germline		 Chr2:227062529 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258047
NM_000091.5(COL4A3):c.689G>T (p.Gly230Val) SNV
Germline		 Chr2:227253562 Pathogenic/Likely pathogenic Alport syndrome
Hematuria		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006258050RCV006272109
NM_000091.5(COL4A3):c.1070G>A (p.Gly357Asp) SNV
Germline		 Chr2:227259833 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258051
NM_000091.5(COL4A3):c.1541G>A (p.Gly514Glu) SNV
Germline		 Chr2:227269946 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258052
NM_000091.5(COL4A3):c.1864G>A (p.Gly622Arg) SNV
Germline		 Chr2:227273054 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258053
NM_000091.5(COL4A3):c.2402G>A (p.Gly801Glu) SNV
Germline		 Chr2:227280920 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258055
NM_000091.5(COL4A3):c.3160G>A (p.Gly1054Arg) SNV
Germline		 Chr2:227290836 Likely pathogenic Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258060
NM_033380.3(COL4A5):c.609+879A>G SNV
Germline		 ChrX:108576851 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258355
NM_033380.3(COL4A5):c.610G>A (p.Gly204Ser) SNV
Germline		 ChrX:108577952 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258356
NM_033380.3(COL4A5):c.3845G>A (p.Gly1282Glu) SNV
Germline		 ChrX:108677536 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258360
NM_033380.3(COL4A5):c.4297G>A (p.Gly1433Ser) SNV
Germline		 ChrX:108686111 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258361
NM_033380.3(COL4A5):c.4852C>T (p.Gln1618Ter) SNV
Germline		 ChrX:108695297 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258362
NM_033380.3(COL4A5):c.4930T>G (p.Cys1644Gly) SNV
Germline		 ChrX:108695375 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006258363
NM_033380.3(COL4A5):c.4967C>A (p.Ala1656Glu) SNV
Germline		 ChrX:108695412 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006261803
NM_033380.3(COL4A5):c.4406T>G (p.Leu1469Arg) SNV
Germline		 ChrX:108687572 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006269160
NM_000091.5(COL4A3):c.451G>C (p.Gly151Arg) SNV
Germline		 Chr2:227247567 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006275822
NM_033380.3(COL4A5):c.4351G>T (p.Gly1451Ter) SNV
Germline		 ChrX:108687517 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006275842
NM_033380.3(COL4A5):c.475G>A (p.Gly159Ser) SNV
Germline		 ChrX:108573583 Conflicting classifications of pathogenicity Inborn genetic diseases
X-linked Alport syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV006363839RCV006553639
NM_000092.5(COL4A4):c.2164G>A (p.Gly722Ser) SNV
Germline		 Chr2:227060136 Likely pathogenic Autosomal recessive Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006454977
NM_000091.5(COL4A3):c.2675G>C (p.Gly892Ala) SNV
Unknown		 Chr2:227283785 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006553797
NM_033380.3(COL4A5):c.1844G>C (p.Gly615Ala) SNV
Unknown		 ChrX:108598766 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006553808
NM_033380.3(COL4A5):c.4369G>C (p.Gly1457Arg) SNV
Unknown		 ChrX:108687535 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006553809
NM_033380.3(COL4A5):c.277-559A>G SNV
Germline		 ChrX:108568070 Pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006605148
NM_033380.3(COL4A5):c.3722G>C (p.Gly1241Ala) SNV
Germline		 ChrX:108668436 Likely pathogenic X-linked Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006613890
NM_000091.5(COL4A3):c.3202G>T (p.Gly1068Ter) SNV
Germline		 Chr2:227290878 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006613896
NM_000091.5(COL4A3):c.546+2T>G SNV
Germline		 Chr2:227248522 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006613913
NM_000091.5(COL4A3):c.3619G>T (p.Gly1207Trp) SNV
Germline		 Chr2:227297727 Likely pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006613914
NM_000091.5(COL4A3):c.888+1G>C SNV
Germline		 Chr2:227254716 Pathogenic Autosomal dominant Alport syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006613919