Total 369 pathogenic variants reported for Hematuria, benign familial, 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
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.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_000092.5(COL4A4):c.2878G>C (p.Gly960Arg) SNV
Germline		 Chr2:227052395 Pathogenic Hematuria, benign familial, 1 No Assertion Criteria Provided
 CA350839525 rs_769783985

1 SubmittersRCV004576909
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_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.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.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.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_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_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_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.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.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_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_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.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.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.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.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.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.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.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.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_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_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_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>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.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_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_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.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_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.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.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.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_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_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_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.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_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.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_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_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.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_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_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_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.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.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_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.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.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.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_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_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.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_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.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_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_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.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_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.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_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.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_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_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_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_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.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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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.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_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_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_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_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.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.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.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_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_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_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_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_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_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_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_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_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_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_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.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_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_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_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_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_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.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_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.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_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_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_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_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_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_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_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_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_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_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_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_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.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_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_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_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.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_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_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_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_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_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_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_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_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_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.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_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_000092.5(COL4A4):c.595G>A (p.Gly199Arg) SNV
Germline		 Chr2:227109286 Conflicting classifications of pathogenicity Hematuria, benign familial, 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004797078RCV005806906
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