Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)	SNV Germline	Chr2:227307898	Pathogenic	Autosomal recessive Alport syndrome Condition: not provided Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA257967	rs_121912824	8 SubmittersRCV000019036 RCV000760446 RCV005003387 RCV001273243
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)	SNV Germline	Chr2:227309007	Pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA257970	rs_121912825	3 SubmittersRCV000019037 RCV001851933
NM_000091.5(COL4A3):c.4929-388G>T	SNV Germline	Chr2:227311398	Pathogenic	Autosomal recessive Alport syndrome	No Assertion Criteria Provided	CA539907209	rs_1325453230	1 SubmittersRCV000019040
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)	SNV Germline	Chr2:227290062	Likely pathogenic	Benign familial hematuria Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA127228	rs_121912826	3 SubmittersRCV000019041 RCV001281227
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)	SNV Germline	Chr2:227289222	Conflicting classifications of pathogenicity	Condition: not provided Benign familial hematuria Autosomal recessive Alport syndrome Alport syndrome	Criteria Provided Conflicting Classifications	CA127230	rs_121912827	5 SubmittersRCV000485138 RCV000019042 RCV000675182 RCV001831587
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)	SNV Germline	Chr2:227295044	Pathogenic	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2 Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA257973	rs_267606745	7 SubmittersRCV000019044 RCV000673273 RCV000681815 RCV001273241 RCV005003388
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)	SNV Germline	Chr2:227303867	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Benign familial hematuria Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA236124	rs_759739044	3 SubmittersRCV000171335 RCV002485088
NM_000091.5(COL4A3):c.765G>T (p.Thr255=)	SNV Germline	Chr2:227253638	Pathogenic/Likely pathogenic	Benign familial hematuria Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA352360	rs_869025328	2 SubmittersRCV000207854 RCV005025339
NM_000091.5(COL4A3):c.765+2T>C	SNV Germline	Chr2:227253640	Pathogenic	Benign familial hematuria	Criteria Provided Single Submitter	CA352413	rs_869025326	1 SubmittersRCV000207993
NM_000091.5(COL4A3):c.3410G>A (p.Gly1137Asp)	SNV Germline	Chr2:227294562	Pathogenic	Benign familial hematuria	Criteria Provided Single Submitter	CA352313	rs_869025327	1 SubmittersRCV000207687
NM_000091.5(COL4A3):c.998G>C (p.Gly333Ala)	SNV Germline	Chr2:227257613	Pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA16044145	rs_1057519376	1 SubmittersRCV000416934
NM_000091.5(COL4A3):c.4382C>T (p.Pro1461Leu)	SNV Germline	Chr2:227307839	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147525	rs_760462252	2 SubmittersRCV000416721 RCV004777620
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys)	SNV Germline	Chr2:227308910	Pathogenic	Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16044146	rs_1057519377	2 SubmittersRCV000416827 RCV002515584
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)	SNV Germline	Chr2:227293238	Conflicting classifications of pathogenicity	not specified Alport syndrome Condition: not provided Inborn genetic diseases Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2147167	rs_147085074	13 SubmittersRCV000248366 RCV000355980 RCV000842905 RCV003352814 RCV001509575
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)	SNV Germline	Chr2:227293250	Conflicting classifications of pathogenicity	not specified Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147171	rs_201989155	7 SubmittersRCV000253135 RCV000263485 RCV000885027
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)	SNV Germline	Chr2:227293305	Conflicting classifications of pathogenicity	not specified Alport syndrome Condition: not provided Kidney disorder COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2147181	rs_55816283	11 SubmittersRCV000243309 RCV001138911 RCV000954602 RCV002294099 RCV003891831
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)	SNV Germline	Chr2:227310913	Conflicting classifications of pathogenicity	not specified Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147672	rs_183218622	10 SubmittersRCV000245793 RCV000277800 RCV000710827
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	SNV Germline	Chr2:227253638	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Benign familial hematuria Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10588923	rs_869025328	9 SubmittersRCV000256383 RCV000764364 RCV000735673 RCV005025408 RCV001859498
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)	SNV Germline	Chr2:227273099	Likely pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2146782	rs_761686437	7 SubmittersRCV000256394 RCV001029768 RCV001859499 RCV004786642 RCV005025409
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	SNV Germline	Chr2:227311838	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria COL4A3-related disorder Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Alport syndrome 3b, autosomal recessive Benign familial hematuria Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147699	rs_201697532	26 SubmittersRCV000283598 RCV000516971 RCV000677316 RCV001141624 RCV001536080 RCV003401260 RCV005025430 RCV004549601 RCV005625514 RCV005355602
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)	SNV Germline	Chr2:227263885	Conflicting classifications of pathogenicity	Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146592	rs_201031986	7 SubmittersRCV000324429 RCV001029875 RCV001559268 RCV001580484 RCV005027429
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)	SNV Germline	Chr2:227303100	Conflicting classifications of pathogenicity	Alport syndrome not specified Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147392	rs_189574905	7 SubmittersRCV000385231 RCV000825741 RCV001276573 RCV000944934
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)	SNV Germline	Chr2:227308918	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome not specified	Criteria Provided Conflicting Classifications	CA2147561	rs_181952966	5 SubmittersRCV000942296 RCV000399705 RCV001276578 RCV001509570 RCV000825742
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)	SNV Germline	Chr2:227308930	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2147565	rs_200454769	9 SubmittersRCV000299191 RCV000920677 RCV000614849
NM_000091.5(COL4A3):c.4756-13A>T	SNV Germline	Chr2:227310763	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147642	rs_190701197	3 SubmittersRCV000298174 RCV001513825
NM_000091.5(COL4A3):c.-13G>C	SNV Germline	Chr2:227164714	Conflicting classifications of pathogenicity	Alport syndrome not specified	Criteria Provided Conflicting Classifications	CA2145881	rs_770803750	2 SubmittersRCV000270943 RCV000607819
NM_000091.5(COL4A3):c.688-8G>T	SNV Germline	Chr2:227253553	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2146318	rs_748843785	5 SubmittersRCV000312906 RCV000944959 RCV003983021
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)	SNV Germline	Chr2:227267067	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided COL4A3-related disorder Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2146667	rs_200510532	9 SubmittersRCV000259762 RCV000519515 RCV003418049 RCV004584688 RCV003236582 RCV005018697
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)	SNV Germline	Chr2:227273117	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146789	rs_778034451	6 SubmittersRCV000348330 RCV000681803 RCV000761268 RCV005027430
NM_000091.5(COL4A3):c.1928-4T>C	SNV Germline	Chr2:227276381	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146809	rs_376327706	2 SubmittersRCV000386566 RCV000930174
NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=)	SNV Germline	Chr2:227293208	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147159	rs_200125890	3 SubmittersRCV000303559 RCV000939249 RCV005027431
NM_000091.5(COL4A3):c.3419-8T>G	SNV Germline	Chr2:227294956	Conflicting classifications of pathogenicity	Alport syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2147245	rs_754483986	3 SubmittersRCV000354698 RCV005431625 RCV001503706
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)	SNV Germline	Chr2:227310845	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Autosomal dominant Alport syndrome not specified	Criteria Provided Conflicting Classifications	CA2147663	rs_756231749	5 SubmittersRCV000657998 RCV000369300 RCV001276580 RCV002469133
NM_000091.5(COL4A3):c.2489-8G>A	SNV Germline	Chr2:227282357	Conflicting classifications of pathogenicity	Alport syndrome Autosomal dominant Alport syndrome Kidney disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2146948	rs_201846272	5 SubmittersRCV000347162 RCV001274587 RCV002294297 RCV000882702
NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)	SNV Germline	Chr2:227290872	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147129	rs_377003650	5 SubmittersRCV000392593 RCV002057673 RCV005018698
NM_000091.5(COL4A3):c.3566-9T>C	SNV Germline	Chr2:227297665	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147301	rs_147886850	8 SubmittersRCV000333837 RCV000710818
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)	SNV Germline	Chr2:227237992	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Inborn genetic diseases COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2145906	rs_201607115	6 SubmittersRCV000380561 RCV000907824 RCV001274065 RCV003168506 RCV003957724
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)	SNV Germline	Chr2:227240219	Conflicting classifications of pathogenicity	Alport syndrome Autosomal dominant Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2145944	rs_373975901	8 SubmittersRCV000374898 RCV000735745 RCV001243798 RCV005027428
NM_000091.5(COL4A3):c.516C>T (p.Asp172=)	SNV Germline	Chr2:227248490	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2146182	rs_759455097	3 SubmittersRCV000350833 RCV000976708 RCV001274578
NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr)	SNV Germline	Chr2:227269921	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146697	rs_188967260	3 SubmittersRCV000317299 RCV001484290
NM_000091.5(COL4A3):c.2021-9G>C	SNV Germline	Chr2:227277440	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10614675	rs_773021303	2 SubmittersRCV000289906 RCV001437377
NM_000091.5(COL4A3):c.3882+10G>A	SNV Germline	Chr2:227298822	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2147367	rs_78980950	4 SubmittersRCV000275534 RCV000894814 RCV005540060
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)	SNV Germline	Chr2:227303094	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2147389	rs_141552752	5 SubmittersRCV000328358 RCV000925691 RCV000825740
NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)	SNV Germline	Chr2:227304091	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA10614687	rs_886055742	3 SubmittersRCV000379461 RCV003236796 RCV005027432
NM_000091.5(COL4A3):c.4153+10T>C	SNV Germline	Chr2:227304154	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10614688	rs_865866667	2 SubmittersRCV000287275 RCV001442380
NM_000091.5(COL4A3):c.4253-14T>C	SNV Germline	Chr2:227307696	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147491	rs_747386514	2 SubmittersRCV000339994 RCV002057675
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)	SNV Germline	Chr2:227308959	Conflicting classifications of pathogenicity	Alport syndrome not specified Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147571	rs_200512461	12 SubmittersRCV000337893 RCV000825316 RCV001247514 RCV000673190 RCV001276579 RCV005003641
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	SNV Germline	Chr2:227277511	Pathogenic/Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided COL4A3-related disorder Kidney disorder not specified Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal recessive Alport syndrome Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA2146849	rs_200287952	16 SubmittersRCV000408794 RCV001240936 RCV003922661 RCV002294326 RCV001001294 RCV005004140 RCV003226288 RCV002225103 RCV002288979
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=)	SNV Germline	Chr2:227277543	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome not specified Autosomal recessive Alport syndrome Benign familial hematuria Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2146854	rs_201419174	3 SubmittersRCV000408874 RCV003488579 RCV002480260
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)	SNV Germline	Chr2:227273108	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Microscopic hematuria Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2146786	rs_200672668	10 SubmittersRCV000410611 RCV000489873 RCV001580284 RCV005252872 RCV004699171 RCV005018703
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)	SNV Germline	Chr2:227279882	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16040867	rs_375040636	4 SubmittersRCV000411680 RCV001850974 RCV002502432
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)	SNV Germline	Chr2:227280587	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Condition: not provided Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16609389	rs_1060499654	8 SubmittersRCV000449569 RCV000763472 RCV001213210 RCV001833572
NM_000091.5(COL4A3):c.2657-1G>T	SNV Germline	Chr2:227283766	Conflicting classifications of pathogenicity	Hematuria Glomerulopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA16609390	rs_373324875	2 SubmittersRCV000449592 RCV001379028
NM_000091.5(COL4A3):c.1900G>A (p.Gly634Arg)	SNV Germline	Chr2:227273090	Likely pathogenic	Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Single Submitter		rs_1060499696	1 SubmittersRCV005018741
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)	SNV Germline	Chr2:227310902	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Condition: not provided Alport syndrome Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147669	rs_773905198	5 SubmittersRCV000449509 RCV002063659 RCV001375162 RCV005027494
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)	SNV Germline	Chr2:227263804	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350868720	rs_1114167371	2 SubmittersRCV000490752
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)	SNV Germline	Chr2:227263813	Pathogenic/Likely pathogenic	Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350868740	rs_1131691738	5 SubmittersRCV005004191 RCV001328055 RCV000493906
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg)	SNV Germline	Chr2:227266482	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA350870169	rs_1135401954	2 SubmittersRCV000496506 RCV001851366
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu)	SNV Germline	Chr2:227303922	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA2147423	rs_748901402	1 SubmittersRCV000505590
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)	SNV Germline	Chr2:227311851	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Alport syndrome Alport syndrome	Criteria Provided Conflicting Classifications	CA2147702	rs_376550779	4 SubmittersRCV000514326 RCV000673499 RCV004787818
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)	SNV Germline	Chr2:227248494	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA66617434	rs_1014839148	8 SubmittersRCV001805130 RCV000517824 RCV005018878 RCV001837945 RCV004742478
NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg)	SNV Germline	Chr2:227251363	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA350864073	rs_1553752192	2 SubmittersRCV000518723
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)	SNV Germline	Chr2:227266473	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Benign familial hematuria COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2146631	rs_757341933	5 SubmittersRCV005018876 RCV000517256 RCV000763078 RCV004742476
NM_000091.5(COL4A3):c.1928-1G>A	SNV Germline	Chr2:227276384	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350845991	rs_1364800683	2 SubmittersRCV000518494
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)	SNV Germline	Chr2:227279793	Pathogenic/Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350847422	rs_1553759430	3 SubmittersRCV001281222 RCV000516433 RCV005018877
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)	SNV Germline	Chr2:227280970	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome COL4A3-related disorder Alport syndrome Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA66598974	rs_868002181	12 SubmittersRCV000517367 RCV000668107 RCV001849395 RCV003419893 RCV004787823 RCV005027598 RCV005625656
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)	SNV Germline	Chr2:227293230	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350857395	rs_1192750535	4 SubmittersRCV000517710 RCV005027599
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)	SNV Germline	Chr2:227297728	Pathogenic	Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA350860023	rs_1553764136	3 SubmittersRCV000518270 RCV002496993
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)	SNV Germline	Chr2:227310839	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive COL4A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2147660	rs_764046610	4 SubmittersRCV000517806 RCV005004208 RCV004742477
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)	SNV Germline	Chr2:227310845	Pathogenic	Condition: not provided Autosomal recessive Alport syndrome Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA2147662	rs_756231749	7 SubmittersRCV000518704 RCV000668781 RCV001834658 RCV002468584 RCV002490880
NM_000091.5(COL4A3):c.441G>A (p.Pro147=)	SNV Germline	Chr2:227246738	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome COL4A3-related disorder Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146090	rs_373559251	7 SubmittersRCV000519854 RCV001272224 RCV003419915 RCV005431732 RCV005004215
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)	SNV Germline	Chr2:227273076	Conflicting classifications of pathogenicity	Chronic kidney disease Condition: not provided not specified Alport syndrome Inborn genetic diseases COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2146776	rs_139361545	9 SubmittersRCV001171326 RCV000727017 RCV001195565 RCV001274582 RCV004609422 RCV003960238
NM_000091.5(COL4A3):c.3882+5G>A	SNV Germline	Chr2:227298817	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive Alport syndrome Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Hematuria, benign familial, 2	Criteria Provided Multiple Submitters No Conflicts	CA658657247	rs_1553764454	5 SubmittersRCV000520022 RCV001089908 RCV005027613
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	SNV Germline	Chr2:227307878	Conflicting classifications of pathogenicity	not specified Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Condition: not provided Hearing impairment Alport syndrome COL4A3-related disorder Benign familial hematuria	Criteria Provided Conflicting Classifications	CA2147534	rs_200302125	28 SubmittersRCV000521759 RCV000987047 RCV000735744 RCV000710822 RCV001375164 RCV001276575 RCV003925556 RCV005625665
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)	SNV Germline	Chr2:227263845	Pathogenic	Autosomal recessive Alport syndrome Condition: not provided Alport syndrome COL4A3-related disorder Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Multiple Submitters No Conflicts	CA66631792	rs_371334239	8 SubmittersRCV000589718 RCV001046549 RCV001272227 RCV004722959 RCV005027693
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)	SNV Germline	Chr2:227308946	Conflicting classifications of pathogenicity	Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome not specified Autosomal recessive Alport syndrome Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2147568	rs_201671013	11 SubmittersRCV000597276 RCV000764366 RCV000825318 RCV000987048 RCV001139014 RCV005027704
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)	SNV Germline	Chr2:227307752	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria not specified Autosomal dominant Alport syndrome COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2147500	rs_200509072	7 SubmittersRCV000597767 RCV000764365 RCV001174854 RCV001276574 RCV003952993
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)	SNV Germline	Chr2:227283809	Conflicting classifications of pathogenicity	Condition: not provided COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2146994	rs_201665434	4 SubmittersRCV000595829 RCV003403406
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)	SNV Germline	Chr2:227307902	Conflicting classifications of pathogenicity	Condition: not provided not specified Alport syndrome Autosomal dominant Alport syndrome Kidney disorder COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2147537	rs_199755408	9 SubmittersRCV000596969 RCV000825738 RCV001276576 RCV001333197 RCV002294354 RCV003905552
NM_000091.5(COL4A3):c.573T>C (p.Pro191=)	SNV Germline	Chr2:227251166	Conflicting classifications of pathogenicity	not specified Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2146218	rs_375503109	4 SubmittersRCV000602145 RCV000903403 RCV001141279
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)	SNV Germline	Chr2:227297685	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA66610369	rs_972796332	3 SubmittersRCV000600771 RCV001770545
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)	SNV Germline	Chr2:227245990	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome not specified Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided Inborn genetic diseases Alport syndrome	Criteria Provided Conflicting Classifications	CA2146063	rs_778886174	9 SubmittersRCV000625594 RCV001089905 RCV000825317 RCV001169840 RCV001855319 RCV004025283 RCV001834978
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)	SNV Germline	Chr2:227273045	Pathogenic/Likely pathogenic	Autosomal dominant Alport syndrome Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Alport syndrome Condition: not provided Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2146772	rs_773515249	8 SubmittersRCV000625624 RCV001089917 RCV001391170 RCV004788040 RCV000681773 RCV005019037
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp)	SNV Germline	Chr2:227283794	Likely pathogenic	Autosomal dominant Alport syndrome COL4A3-related disorder Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350851148	rs_1553760558	3 SubmittersRCV000625572 RCV003935738 RCV005019036
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)	SNV Germline	Chr2:227290876	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Condition: not provided Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2147131	rs_55849096	4 SubmittersRCV000625595 RCV001756029 RCV005027735
NM_000091.5(COL4A3):c.2746+17C>T	SNV Germline	Chr2:227283873	Conflicting classifications of pathogenicity	Hematuria Condition: not provided	Criteria Provided Conflicting Classifications	CA658796192	rs_765408537	2 SubmittersRCV000626592 RCV002060703
NM_000091.5(COL4A3):c.325-1G>A	SNV Unknown	Chr2:227245953	Likely pathogenic	Autosomal recessive Alport syndrome	No Assertion Criteria Provided	CA2146053	rs_762518741	1 SubmittersRCV000665178
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)	SNV Germline	Chr2:227247559	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive COL4A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2146140	rs_775373641	10 SubmittersRCV000666006 RCV000786994 RCV001052837 RCV001272225 RCV005019108 RCV003945699
NM_000091.5(COL4A3):c.468+1G>T	SNV Germline	Chr2:227247585	Likely pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350863270	rs_1553751122	3 SubmittersRCV000664871 RCV005027774 RCV005091920
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)	SNV Germline	Chr2:227263924	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Alport syndrome Hearing impairment Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2146596	rs_534253913	10 SubmittersRCV000665542 RCV001280876 RCV001136570 RCV001375163 RCV001362305 RCV003155264 RCV005540136
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)	SNV Germline	Chr2:227263944	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350869638	rs_1553755124	5 SubmittersRCV000666899 RCV001807646 RCV001855469 RCV005004329
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)	SNV Germline	Chr2:227266455	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2146627	rs_772958162	6 SubmittersRCV000666502 RCV000681919 RCV001198699 RCV005019110
NM_000091.5(COL4A3):c.2747-1G>C	SNV Germline	Chr2:227284210	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350851599	rs_1196996393	4 SubmittersRCV000671366 RCV001855558 RCV003225951 RCV005019142
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)	SNV Germline	Chr2:227290008	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350854767	rs_1553762113	5 SubmittersRCV000667045 RCV001226651 RCV004796271
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)	SNV Germline	Chr2:227294999	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350858790	rs_749383170	4 SubmittersRCV000672753 RCV003558519 RCV005027818
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)	SNV Germline	Chr2:227240170	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome not specified Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2145933	rs_184730597	10 SubmittersRCV000669200 RCV000681942 RCV003313970 RCV003117473 RCV004788090 RCV005027800
NM_000091.5(COL4A3):c.468+1G>A	SNV Unknown	Chr2:227247585	Likely pathogenic	Autosomal recessive Alport syndrome	No Assertion Criteria Provided	CA350863268	rs_1553751122	1 SubmittersRCV000671880
NM_000091.5(COL4A3):c.829-2A>C	SNV Germline	Chr2:227254654	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350866110	rs_1553753119	2 SubmittersRCV000668638 RCV001868224
NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu)	SNV Germline	Chr2:227256027	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350866902	rs_1422638161	2 SubmittersRCV000664514 RCV004588087
NM_000091.5(COL4A3):c.1758+1G>A	SNV Germline	Chr2:227270953	Likely pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Single Submitter	CA350871976	rs_1553757096	2 SubmittersRCV000666005 RCV005027782
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)	SNV Germline	Chr2:227164727	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350845868	rs_1396602090	4 SubmittersRCV000670747 RCV001382714 RCV004788095
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg)	SNV Germline	Chr2:227277493	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350846829	rs_1553758919	2 SubmittersRCV000664680 RCV001855429
NM_000091.5(COL4A3):c.3210+1G>A	SNV Germline	Chr2:227290887	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350856138	rs_1553762314	5 SubmittersRCV000670389 RCV001213668 RCV005004342
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)	SNV Germline	Chr2:227295017	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Alport syndrome Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA66609052	rs_914878176	6 SubmittersRCV000672819 RCV001328059 RCV001250550 RCV001868265
NM_000091.5(COL4A3):c.279+1G>A	SNV Germline	Chr2:227244365	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2145974	rs_202001097	3 SubmittersRCV000672721 RCV002532134 RCV005019148
NM_000091.5(COL4A3):c.388-1G>T	SNV Germline	Chr2:227246684	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350861750	rs_1553750900	3 SubmittersRCV000668609 RCV001060728 RCV005004335
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)	SNV Germline	Chr2:227246688	Pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350861757	rs_1346138010	5 SubmittersRCV000674775 RCV000763077 RCV001218262 RCV001830467 RCV005019165
NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)	SNV Germline	Chr2:227248443	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Benign familial hematuria Autosomal recessive Alport syndrome Alport syndrome	Criteria Provided Conflicting Classifications	CA2146169	rs_764451365	6 SubmittersRCV000665296 RCV000730376 RCV002485524 RCV004788086
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	SNV Germline	Chr2:227298759	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Condition: not provided Alport syndrome Autosomal dominant Alport syndrome not specified focal and segmental glomerulosclerosis Alport syndrome 3b, autosomal recessive COL4A3-related disorder Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147362	rs_190598500	21 SubmittersRCV000671820 RCV000727653 RCV001143340 RCV001281229 RCV002249398 RCV002485556 RCV003992367 RCV003392513 RCV005027812
NM_000091.5(COL4A3):c.3883-2A>G	SNV Germline	Chr2:227303036	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350861977	rs_1553765265	2 SubmittersRCV000673097 RCV003558521
NM_000091.5(COL4A3):c.4640+1G>A	SNV Germline	Chr2:227309077	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350865425	rs_1553766404	2 SubmittersRCV000668666 RCV002531204
NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)	SNV Germline	Chr2:227267043	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350870337	rs_745472969	2 SubmittersRCV000673812 RCV003489795
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)	SNV Germline	Chr2:227290785	Pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2147115	rs_766900945	6 SubmittersRCV000669678 RCV000735743 RCV001861779
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)	SNV Germline	Chr2:227310813	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2147656	rs_752452590	8 SubmittersRCV000665574 RCV000821858 RCV005027778 RCV005357888 RCV005623079
NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter)	SNV Germline	Chr2:227290824	Pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350855754	rs_1553762279	2 SubmittersRCV000667832 RCV001855489
NM_000091.5(COL4A3):c.3211-1G>C	SNV Germline	Chr2:227293190	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350857066	rs_1553762936	3 SubmittersRCV000674071 RCV002532157
NM_000091.5(COL4A3):c.3751+1G>A	SNV Germline	Chr2:227297860	Likely pathogenic	Autosomal recessive Alport syndrome Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA2147334	rs_781566652	3 SubmittersRCV000670997 RCV001830450 RCV001379464
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)	SNV Germline	Chr2:227308922	Pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2147563	rs_769863513	5 SubmittersRCV000670558 RCV001861795 RCV005004343 RCV005250086
NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter)	SNV Unknown	Chr2:227310892	Likely pathogenic	Autosomal recessive Alport syndrome	No Assertion Criteria Provided	CA350866431	rs_1351781261	1 SubmittersRCV000671855
NM_000091.5(COL4A3):c.2T>C (p.Met1Thr)	SNV Unknown	Chr2:227164728	Likely pathogenic	Autosomal recessive Alport syndrome	No Assertion Criteria Provided	CA350845870	rs_1553725815	1 SubmittersRCV000673067
NM_000091.5(COL4A3):c.645+2T>C	SNV Germline	Chr2:227251373	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350864095	rs_1553752199	2 SubmittersRCV000673983 RCV003558527
NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)	SNV Germline	Chr2:227270881	Pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350871825	rs_1553757060	2 SubmittersRCV000674357 RCV001389288
NM_000091.5(COL4A3):c.1927+2T>C	SNV Germline	Chr2:227273119	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350845077	rs_1158937060	3 SubmittersRCV000673180 RCV002532144 RCV005019153
NM_000091.5(COL4A3):c.2223+1G>A	SNV Germline	Chr2:227279891	Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350848026	rs_1553759476	3 SubmittersRCV000671100 RCV001861802 RCV005027810
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)	SNV Germline	Chr2:227308982	Pathogenic	Autosomal recessive Alport syndrome Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA66621122	rs_759873621	5 SubmittersRCV000667489 RCV001066963 RCV001328056 RCV005004331
NM_000091.5(COL4A3):c.4756-1G>A	SNV Unknown	Chr2:227310775	Likely pathogenic	Autosomal recessive Alport syndrome	No Assertion Criteria Provided	CA350865945	rs_1553766735	1 SubmittersRCV000673520
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)	SNV Germline	Chr2:227297700	Pathogenic/Likely pathogenic	Condition: not provided See cases Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA66610381	rs_920061910	4 SubmittersRCV000681698 RCV002252213 RCV004788108
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)	SNV Germline	Chr2:227282523	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350850872	rs_1559897288	3 SubmittersRCV000681728 RCV005019172
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)	SNV Germline	Chr2:227254699	Likely pathogenic	Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350866447	rs_1425230568	4 SubmittersRCV000681788 RCV002507181 RCV005622001
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)	SNV Germline	Chr2:227256362	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Single Submitter	CA350867215	rs_1559872489	2 SubmittersRCV000681798 RCV005004360
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu)	SNV Germline	Chr2:227284274	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350852064	rs_1559899600	3 SubmittersRCV000681806 RCV005019174
NM_000091.5(COL4A3):c.1504+1G>A	SNV Germline	Chr2:227267089	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350870432	rs_1559882199	4 SubmittersRCV000681808 RCV003236588
NM_000091.5(COL4A3):c.2881+1G>T	SNV Germline	Chr2:227284346	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350852603	rs_1559899827	3 SubmittersRCV000681835
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)	SNV Germline	Chr2:227259859	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2146520	rs_539765620	6 SubmittersRCV000681847 RCV005021045 RCV005431871
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)	SNV Germline	Chr2:227263830	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350868774	rs_1559878824	4 SubmittersRCV000681888 RCV005027839
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	SNV Germline	Chr2:227256035	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome not specified Benign familial hematuria COL4A3-related disorder Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA2146424	rs_772708743	16 SubmittersRCV000681901 RCV000786971 RCV001272226 RCV001731883 RCV002289956 RCV003403579 RCV005027840 RCV005318478
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)	SNV Germline	Chr2:227289230	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147063	rs_769683665	3 SubmittersRCV000681932 RCV003447552 RCV005021047
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)	SNV Germline	Chr2:227257621	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive Alport syndrome Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA350867528	rs_1559873550	5 SubmittersRCV000681935 RCV001251195 RCV004788113 RCV002499210
NM_000091.5(COL4A3):c.547-1G>T	SNV Germline	Chr2:227251139	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350863662	rs_1240347743	1 SubmittersRCV000710828
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg)	SNV Germline	Chr2:227257612	Conflicting classifications of pathogenicity	Condition: not provided COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2146486	rs_761819520	3 SubmittersRCV000710830 RCV003907965
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)	SNV Germline	Chr2:227282469	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA350850524	rs_1559897190	5 SubmittersRCV000710816 RCV005027882 RCV004723128
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)	SNV Germline	Chr2:227309212	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2147599	rs_200655479	5 SubmittersRCV000710824 RCV001544542 RCV001825415 RCV001281231
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp)	SNV Germline	Chr2:227307808	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA350864302	rs_1291948462	3 SubmittersRCV000727884
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)	SNV Germline	Chr2:227284312	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2147040	rs_200044988	4 SubmittersRCV000728422
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)	SNV Germline	Chr2:227298755	Conflicting classifications of pathogenicity	Condition: not provided not specified Alport syndrome Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2147359	rs_143380907	6 SubmittersRCV000730422 RCV000825061 RCV001143339 RCV001276572
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)	SNV Germline	Chr2:227245972	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided COL4A3-related disorder Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146058	rs_202147112	9 SubmittersRCV000735661 RCV001089904 RCV001813801 RCV003411689 RCV004760761 RCV005029405
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)	SNV Germline	Chr2:227257637	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Condition: not provided not specified Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146490	rs_200738124	6 SubmittersRCV000735662 RCV001574377 RCV004768626 RCV005004397 RCV004760762
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg)	SNV Germline	Chr2:227276459	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350846438	rs_1559890352	1 SubmittersRCV000735710
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg)	SNV Germline	Chr2:227280500	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350849122	rs_983885088	1 SubmittersRCV000735783
NM_000091.5(COL4A3):c.3230G>A (p.Gly1077Asp)	SNV Germline	Chr2:227293210	Pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350857245	rs_1559909384	1 SubmittersRCV000735738
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val)	SNV Germline	Chr2:227273082	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome 3b, autosomal recessive not specified COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA350845010	rs_1315862965	4 SubmittersRCV001869019 RCV004547945 RCV005240528 RCV003396315
NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter)	SNV Germline	Chr2:227297751	Pathogenic	Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive COL4A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2147314	rs_368434069	5 SubmittersRCV000760445 RCV001199941 RCV005029409 RCV004742628
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)	SNV Germline	Chr2:227297790	Likely pathogenic	Autosomal recessive Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350860281	rs_1559913871	2 SubmittersRCV000761269 RCV002500988
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)	SNV Germline	Chr2:227310803	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Condition: not provided not specified Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147654	rs_766208466	4 SubmittersRCV000761225 RCV002533862 RCV003155307 RCV005029412
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)	SNV Germline	Chr2:227253637	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Nephrotic syndrome Condition: not provided not specified Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146338	rs_573527081	7 SubmittersRCV000770773 RCV001328053 RCV001855721 RCV001731919 RCV005029415
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)	SNV Germline	Chr2:227263848	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Condition: not provided COL4A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA350868814	rs_1559878862	6 SubmittersRCV003236589 RCV002501014 RCV002535651 RCV004527804
NM_000091.5(COL4A3):c.2981G>A (p.Gly994Asp)	SNV Germline	Chr2:227289999	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350854721	rs_1574803132	1 SubmittersRCV000786779
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)	SNV Germline	Chr2:227253598	Pathogenic/Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350865022	rs_1574699806	5 SubmittersRCV000787009 RCV004723175 RCV005029447 RCV001281283
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)	SNV Germline	Chr2:227270788	Pathogenic/Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided Autosomal recessive Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350871528	rs_779575469	5 SubmittersRCV000786944 RCV001856210 RCV000995727 RCV005021176
NM_000091.5(COL4A3):c.3266G>A (p.Gly1089Asp)	SNV Germline	Chr2:227293246	Pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350857514	rs_1574813382	1 SubmittersRCV000786972
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)	SNV Germline	Chr2:227297683	Likely pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Pilarowski-Bjornsson syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350859902	rs_1574823172	4 SubmittersRCV001391172 RCV000787016 RCV004540099 RCV005029448
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)	SNV Germline	Chr2:227293237	Likely pathogenic	Benign familial hematuria Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350857442	rs_1574813350	2 SubmittersRCV000853582 RCV000790472 RCV005029452
NM_000091.5(COL4A3):c.1051C>T (p.Gln351Ter)	SNV Germline	Chr2:227259814	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350868250	rs_1218470259	1 SubmittersRCV000812103
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)	SNV Germline	Chr2:227295021	Conflicting classifications of pathogenicity	not specified Condition: not provided Alport syndrome Autosomal dominant Alport syndrome COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2147259	rs_145948549	5 SubmittersRCV000825665 RCV000912182 RCV001141509 RCV001274591 RCV003965608
NM_000091.5(COL4A3):c.-26G>T	SNV Germline	Chr2:227164701	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2145880	rs_747049729	2 SubmittersRCV001143022 RCV000827311
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg)	SNV Germline	Chr2:227238016	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Condition: not provided COL4A3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2145915	rs_200866082	5 SubmittersRCV001274066 RCV000844339 RCV003918312 RCV002538340
NM_000091.5(COL4A3):c.3337+6G>C	SNV Germline	Chr2:227293323	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA66608206	rs_1008678288	2 SubmittersRCV000841207
NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter)	SNV Germline	Chr2:227240203	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350859524	rs_1574658390	1 SubmittersRCV000844888
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=)	SNV Germline	Chr2:227304050	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2147441	rs_374672854	2 SubmittersRCV000893186 RCV001136777
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)	SNV Germline	Chr2:227272980	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome COL4A3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2146765	rs_781163705	8 SubmittersRCV000904280 RCV001253067 RCV001274581 RCV003958192 RCV004028543
NM_000091.5(COL4A3):c.934-6C>A	SNV Germline	Chr2:227256337	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria COL4A3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2146444	rs_369438839	9 SubmittersRCV000899032 RCV001274579 RCV002502643 RCV003975707 RCV004973144
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)	SNV Germline	Chr2:227273053	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2146774	rs_771390525	4 SubmittersRCV000918655 RCV001141394 RCV001449655
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=)	SNV Germline	Chr2:227270868	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2146735	rs_762241502	3 SubmittersRCV000941845 RCV001274580
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=)	SNV Germline	Chr2:227293244	Conflicting classifications of pathogenicity	Condition: not provided COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2147169	rs_770449474	3 SubmittersRCV000945153 RCV004743218
NM_000091.5(COL4A3):c.3210+8G>A	SNV Germline	Chr2:227290894	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Kidney disorder	Criteria Provided Conflicting Classifications	CA2147139	rs_545181831	4 SubmittersRCV000943106 RCV001827006 RCV002294418
NM_000091.5(COL4A3):c.3751+7G>A	SNV Germline	Chr2:227297866	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2147335	rs_750554079	4 SubmittersRCV000930521 RCV001141513 RCV003978084
NM_000091.5(COL4A3):c.468+9T>C	SNV Germline	Chr2:227247593	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2146143	rs_754471166	4 SubmittersRCV000983069 RCV001138703 RCV003897995
NM_000091.5(COL4A3):c.87+7G>T	SNV Germline	Chr2:227164820	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA915941768	rs_1358691399	2 SubmittersRCV000975346 RCV001143026
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp)	SNV Germline	Chr2:227297701	Likely pathogenic	Condition: not provided COL4A3-related disorder Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2147306	rs_755849032	4 SubmittersRCV000991614 RCV003936250 RCV005029549
NM_000091.5(COL4A3):c.3619G>C (p.Gly1207Arg)	SNV Germline	Chr2:227297727	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350860020	rs_1167411352	2 SubmittersRCV000991615
NM_000091.5(COL4A3):c.2489-1G>A	SNV Germline	Chr2:227282364	Likely pathogenic	Condition: not provided Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350850121	rs_1574782406	3 SubmittersRCV000991613 RCV001089907
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)	SNV Germline	Chr2:227280498	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome Inborn genetic diseases Autosomal recessive Alport syndrome COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2146910	rs_747356302	6 SubmittersRCV000997690 RCV001559320 RCV001143241 RCV002550713 RCV001559319 RCV004743246
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)	SNV Germline	Chr2:227164754	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350845978	rs_1453590085	3 SubmittersRCV000995722 RCV001238070 RCV005021304
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)	SNV Germline	Chr2:227245980	Pathogenic	Condition: not provided Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350861664	rs_750308686	2 SubmittersRCV001221432 RCV000995723
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg)	SNV Germline	Chr2:227263812	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Condition: not provided Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA350868735	rs_1574727988	3 SubmittersRCV000995725 RCV001238723 RCV005411629
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg)	SNV Germline	Chr2:227263917	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350869500	rs_1574728278	1 SubmittersRCV000995726
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)	SNV Germline	Chr2:227273021	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA350844879	rs_1574753929	4 SubmittersRCV000995728 RCV001029935 RCV001858820
NM_000091.5(COL4A3):c.2746+1G>T	SNV Germline	Chr2:227283857	Pathogenic	Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350851498	rs_1574786225	2 SubmittersRCV000995513 RCV003483750
NM_000091.5(COL4A3):c.2747-1G>T	SNV Germline	Chr2:227284210	Pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350851601	rs_1196996393	1 SubmittersRCV000995514
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu)	SNV Germline	Chr2:227253330	Likely pathogenic	Autosomal recessive Alport syndrome Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350864849	rs_1574698507	2 SubmittersRCV001002784 RCV004789307
NM_000091.5(COL4A3):c.387+1G>A	SNV Germline	Chr2:227246017	Pathogenic	Hereditary hearing loss and deafness	No Assertion Criteria Provided	CA350861739	rs_1574674108	1 SubmittersRCV001003416
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp)	SNV Germline	Chr2:227277449	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350846614	rs_1574767962	1 SubmittersRCV001004075
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)	SNV Germline	Chr2:227297752	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2147315	rs_200443942	7 SubmittersRCV001007587 RCV001248769 RCV001702764 RCV001141512
NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter)	SNV Germline	Chr2:227238022	Pathogenic	Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350858421	rs_1207493576	2 SubmittersRCV001029783 RCV005056794
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn)	SNV Germline	Chr2:227248488	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Conflicting Classifications	CA2146181	rs_377575924	3 SubmittersRCV001029786 RCV002552021 RCV002479225
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp)	SNV Germline	Chr2:227256380	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome not specified Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146451	rs_566993466	3 SubmittersRCV001029987 RCV004526065 RCV005029577
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser)	SNV Germline	Chr2:227263890	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350869359	rs_1363441287	1 SubmittersRCV001029865
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)	SNV Germline	Chr2:227263939	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2146599	rs_148686474	3 SubmittersRCV001452926 RCV001029869
NM_000091.5(COL4A3):c.1505-2A>C	SNV Germline	Chr2:227269908	Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Single Submitter	CA350871062	rs_1247804051	2 SubmittersRCV001029784 RCV002552020
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)	SNV Germline	Chr2:227269964	Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350871338	rs_1574745989	4 SubmittersRCV001029977 RCV001862430 RCV005021338
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser)	SNV Germline	Chr2:227282460	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350850478	rs_1574782666	1 SubmittersRCV001029940
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp)	SNV Germline	Chr2:227282488	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350850621	rs_1402894646	1 SubmittersRCV001029938
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu)	SNV Germline	Chr2:227284342	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA2147043	rs_746766677	1 SubmittersRCV001029989
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)	SNV Germline	Chr2:227290858	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147123	rs_202078295	5 SubmittersRCV001029944 RCV001138909 RCV001664628
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg)	SNV Germline	Chr2:227295307	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350859350	rs_1305836268	1 SubmittersRCV001029838
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)	SNV Germline	Chr2:227310846	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Alport syndrome	Criteria Provided Conflicting Classifications	CA350866161	rs_1380878336	4 SubmittersRCV001029796 RCV004789365
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)	SNV Germline	Chr2:227270863	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Benign familial hematuria Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350871788	rs_1457269547	4 SubmittersRCV001039861 RCV001536113 RCV003336281 RCV005029594
NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu)	SNV Germline	Chr2:227279856	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350847793	rs_2071838155	2 SubmittersRCV001053817 RCV005029623
NM_000091.5(COL4A3):c.3991G>T (p.Gly1331Ter)	SNV Germline	Chr2:227303894	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350862539	rs_2073395126	1 SubmittersRCV001071599
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)	SNV Germline	Chr2:227304036	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Benign familial hematuria Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA350862730	rs_2073401281	5 SubmittersRCV001069634 RCV001281230 RCV001089919 RCV001833664 RCV005029664
NM_000091.5(COL4A3):c.2375-2A>G	SNV Germline	Chr2:227280891	Likely pathogenic	Condition: not provided Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350849348	rs_2071916145	2 SubmittersRCV001039247 RCV004789375
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)	SNV Germline	Chr2:227279874	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Benign familial hematuria Condition: not provided	Criteria Provided Conflicting Classifications	CA350847909	rs_773317939	2 SubmittersRCV001089918 RCV001862664
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)	SNV Germline	Chr2:227305066	Pathogenic/Likely pathogenic	Autosomal dominant Alport syndrome Benign familial hematuria Autosomal dominant Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350863945	rs_2073446714	3 SubmittersRCV001089920 RCV004796364 RCV005029684
NM_000091.5(COL4A3):c.-10C>T	SNV Germline	Chr2:227164717	Conflicting classifications of pathogenicity	Alport syndrome not specified Autosomal dominant Alport syndrome COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2145882	rs_781380101	4 SubmittersRCV001143023 RCV003490085 RCV003991040 RCV003938498
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)	SNV Germline	Chr2:227164762	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA431500512	rs_1189095338	2 SubmittersRCV001143024 RCV001485821
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)	SNV Germline	Chr2:227248487	Conflicting classifications of pathogenicity	Alport syndrome not specified Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2146180	rs_199514043	5 SubmittersRCV001138704 RCV003155361 RCV001843564 RCV002482264
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)	SNV Germline	Chr2:227253590	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146328	rs_377503376	2 SubmittersRCV001141282 RCV001423073
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)	SNV Germline	Chr2:227254697	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146401	rs_373130348	3 SubmittersRCV001143134 RCV002070721
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)	SNV Germline	Chr2:227270831	Conflicting classifications of pathogenicity	Alport syndrome Autosomal dominant Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146727	rs_772037798	4 SubmittersRCV001141391 RCV001724254 RCV002070696 RCV005029710
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)	SNV Germline	Chr2:227272992	Conflicting classifications of pathogenicity	Alport syndrome Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2146768	rs_369567469	4 SubmittersRCV001141392 RCV002505714 RCV002559370 RCV005318628
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)	SNV Germline	Chr2:227280993	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146934	rs_192027050	4 SubmittersRCV001143242 RCV001517137
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)	SNV Germline	Chr2:227289155	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Inborn genetic diseases Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147057	rs_200801946	5 SubmittersRCV001415780 RCV001136673 RCV002556904 RCV005029704
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)	SNV Germline	Chr2:227289187	Conflicting classifications of pathogenicity	Alport syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2147058	rs_758181560	3 SubmittersRCV001136674 RCV005056924 RCV003574839
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)	SNV Germline	Chr2:227309240	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147610	rs_764663555	2 SubmittersRCV001139016 RCV001428265
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)	SNV Germline	Chr2:227309241	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147611	rs_574102153	4 SubmittersRCV001139017 RCV001430168 RCV005029707
NM_000091.5(COL4A3):c.388-15T>C	SNV Germline	Chr2:227246670	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Conflicting Classifications	CA2146075	rs_762513527	3 SubmittersRCV001138283 RCV002558310 RCV002491415
NM_000091.5(COL4A3):c.610-11G>A	SNV Germline	Chr2:227251325	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146232	rs_566045388	2 SubmittersRCV001141280 RCV002070693
NM_000091.5(COL4A3):c.828+9T>C	SNV Germline	Chr2:227254183	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1043065179	rs_2069991819	2 SubmittersRCV001143131 RCV001404373
NM_000091.5(COL4A3):c.829-15C>T	SNV Germline	Chr2:227254641	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146393	rs_201021733	2 SubmittersRCV001143132 RCV001468066
NM_000091.5(COL4A3):c.1505-12G>A	SNV Germline	Chr2:227269898	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146693	rs_114658110	2 SubmittersRCV001138811 RCV002070633
NM_000091.5(COL4A3):c.1576-6C>T	SNV Germline	Chr2:227270764	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2146720	rs_202210023	3 SubmittersRCV001423436 RCV001141390
NM_000091.5(COL4A3):c.2125+13T>C	SNV Germline	Chr2:227277566	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146857	rs_777353565	2 SubmittersRCV001143240 RCV003727903
NM_000091.5(COL4A3):c.2656+12T>A	SNV Germline	Chr2:227282544	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2146968	rs_748254625	2 SubmittersRCV001136671 RCV003558701
NM_000091.5(COL4A3):c.4027+11G>T	SNV Germline	Chr2:227303941	Conflicting classifications of pathogenicity	Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147426	rs_191002419	2 SubmittersRCV001143342 RCV003558712
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)	SNV Germline	Chr2:227248468	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2146172	rs_144036466	3 SubmittersRCV001458763 RCV001195691
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)	SNV Germline	Chr2:227254665	Likely pathogenic	Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350866178	rs_2070035662	2 SubmittersRCV001197525 RCV005029741
NM_000091.5(COL4A3):c.388-2A>G	SNV Germline	Chr2:227246683	Likely pathogenic	Autosomal recessive Alport syndrome Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350861746	rs_2069361375	3 SubmittersRCV001199933 RCV002497681 RCV003117842
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)	SNV Germline	Chr2:227267034	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2 Alport syndrome	Criteria Provided Conflicting Classifications	CA2146661	rs_777401300	8 SubmittersRCV001200643 RCV002282478 RCV003336330 RCV005005066 RCV005359927
NM_000091.5(COL4A3):c.898G>T (p.Gly300Ter)	SNV Germline	Chr2:227256035	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350866938	rs_772708743	1 SubmittersRCV001217316
NM_000091.5(COL4A3):c.2353G>T (p.Glu785Ter)	SNV Germline	Chr2:227280569	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350849296	rs_755792441	1 SubmittersRCV001207365
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)	SNV Germline	Chr2:227290810	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA350855670	rs_2072649241	2 SubmittersRCV001208756 RCV002497715
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)	SNV Germline	Chr2:227269945	Likely pathogenic	Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350871257	rs_2071142257	3 SubmittersRCV001238354 RCV001828901 RCV005014290
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter)	SNV Germline	Chr2:227279823	Pathogenic/Likely pathogenic	Condition: not provided COL4A3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA350847574	rs_1164505506	2 SubmittersRCV001245074 RCV003399008
NM_000091.5(COL4A3):c.1576-2A>C	SNV Germline	Chr2:227270768	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350871449	rs_1291012482	1 SubmittersRCV001231546
NM_000091.5(COL4A3):c.766-2A>G	SNV Germline	Chr2:227254110	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350865768	rs_2069985189	1 SubmittersRCV001245486
NM_000091.5(COL4A3):c.3566-2A>G	SNV Germline	Chr2:227297672	Pathogenic	Condition: not provided Alport syndrome	Criteria Provided Single Submitter	CA66610365	rs_1055753755	2 SubmittersRCV001242109 RCV005614502
NM_000091.5(COL4A3):c.647G>T (p.Gly216Val)	SNV Unknown	Chr2:227253297	Likely pathogenic	Benign familial hematuria	Criteria Provided Single Submitter	CA350864774	rs_2069899081	1 SubmittersRCV001248776
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)	SNV Germline	Chr2:227251140	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350863674	rs_2069716520	1 SubmittersRCV001281282
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser)	SNV Germline	Chr2:227277502	Likely pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA2146847	rs_761780956	1 SubmittersRCV001281221
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)	SNV Germline	Chr2:227279820	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome not specified	Criteria Provided Conflicting Classifications	CA350847552	rs_267599232	2 SubmittersRCV001281223 RCV005419053
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)	SNV Germline	Chr2:227280491	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA350849079	rs_2071886531	2 SubmittersRCV001281224 RCV001301864
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu)	SNV Germline	Chr2:227280908	Likely pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350849390	rs_1283533086	1 SubmittersRCV001281225
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)	SNV Germline	Chr2:227309295	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome not specified	Criteria Provided Conflicting Classifications	CA350865778	rs_2073646176	2 SubmittersRCV001281280 RCV003331093
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)	SNV Germline	Chr2:227311853	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147704	rs_759583948	4 SubmittersRCV001281281 RCV001836251 RCV001316984
NM_000091.5(COL4A3):c.2126-1G>C	SNV Germline	Chr2:227279792	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350847416	rs_2071831565	1 SubmittersRCV001254145
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter)	SNV Unknown	Chr2:227240149	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350859063	rs_2068937789	1 SubmittersRCV001264036
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter)	SNV Unknown	Chr2:227244951	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350860821	rs_2069240492	1 SubmittersRCV001264037
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter)	SNV Unknown	Chr2:227257606	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA2146484	rs_768527987	1 SubmittersRCV001264038
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter)	SNV Unknown	Chr2:227263817	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350868749	rs_1348174898	1 SubmittersRCV001264039
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)	SNV Germline	Chr2:227263842	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350868804	rs_2070736908	2 SubmittersRCV001264040 RCV003542339
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter)	SNV Unknown	Chr2:227266509	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350870225	rs_2070901479	1 SubmittersRCV001264366
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter)	SNV Unknown	Chr2:227269936	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350871212	rs_921768118	1 SubmittersRCV001264367
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter)	SNV Germline	Chr2:227270809	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350871617	rs_2071189852	2 SubmittersRCV001264368 RCV001390141
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter)	SNV Unknown	Chr2:227270941	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA66637964	rs_920504687	1 SubmittersRCV001264369
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter)	SNV Unknown	Chr2:227273045	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350844930	rs_773515249	1 SubmittersRCV001264370
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter)	SNV Unknown	Chr2:227279864	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350847850	rs_2071839316	1 SubmittersRCV001264371
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter)	SNV Unknown	Chr2:227282466	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350850509	rs_2072046147	1 SubmittersRCV001264372
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter)	SNV Unknown	Chr2:227282493	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350850660	rs_2072047738	1 SubmittersRCV001264373
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter)	SNV Unknown	Chr2:227284298	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350852248	rs_2072184526	1 SubmittersRCV001263591
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter)	SNV Unknown	Chr2:227289221	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350854414	rs_2072530756	1 SubmittersRCV001263592
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter)	SNV Unknown	Chr2:227290852	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350855943	rs_2072651666	1 SubmittersRCV001263593
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter)	SNV Unknown	Chr2:227294514	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350858532	rs_2072936269	1 SubmittersRCV001263594
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter)	SNV Unknown	Chr2:227294522	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350858551	rs_2072936529	1 SubmittersRCV001263595
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter)	SNV Unknown	Chr2:227294525	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350858560	rs_2072936636	1 SubmittersRCV001263596
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter)	SNV Unknown	Chr2:227295316	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350859421	rs_2072983130	1 SubmittersRCV001263597
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter)	SNV Unknown	Chr2:227303107	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350862264	rs_2073363435	1 SubmittersRCV001263598
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter)	SNV Unknown	Chr2:227304027	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350862699	rs_2073400756	1 SubmittersRCV001263882
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter)	SNV Unknown	Chr2:227304045	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350862764	rs_2073401408	1 SubmittersRCV001263883
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter)	SNV Unknown	Chr2:227307727	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350864139	rs_2073567181	1 SubmittersRCV001263884
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter)	SNV Unknown	Chr2:227308951	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350864981	rs_2073628823	1 SubmittersRCV001263885
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter)	SNV Germline	Chr2:227309002	Pathogenic/Likely pathogenic	Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350865167	rs_2073630720	2 SubmittersRCV001263886 RCV005094260
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser)	SNV Germline	Chr2:227282373	Conflicting classifications of pathogenicity	Inborn genetic diseases not specified Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350850140	rs_2072039168	3 SubmittersRCV001266706 RCV004526823 RCV005014320
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)	SNV Germline	Chr2:227307805	Pathogenic	Inborn genetic diseases Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350864298	rs_1189607438	4 SubmittersRCV001266707 RCV001386469 RCV001830069 RCV005005129
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)	SNV Germline	Chr2:227267052	Likely pathogenic	Alport syndrome COL4A3-related disorder Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350870354	rs_1256505387	3 SubmittersRCV001328060 RCV003399042 RCV005005131
NM_000091.5(COL4A3):c.1822G>A (p.Gly608Arg)	SNV Unknown	Chr2:227273012	Pathogenic	Hematuria	No Assertion Criteria Provided	CA350844861	rs_2071334080	1 SubmittersRCV001328288
NM_000091.5(COL4A3):c.2021G>T (p.Gly674Val)	SNV Unknown	Chr2:227277449	Likely pathogenic	Hematuria	No Assertion Criteria Provided	CA350846618	rs_1574767962	1 SubmittersRCV001328057
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)	SNV Germline	Chr2:227298694	Conflicting classifications of pathogenicity	Alport syndrome Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2147347	rs_759579368	3 SubmittersRCV001278696 RCV002486041 RCV002537806
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=)	SNV Germline	Chr2:227263940	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2146600	rs_369557944	2 SubmittersRCV001280717
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter)	SNV Germline	Chr2:227305050	Likely pathogenic	Autosomal recessive Alport syndrome	No Assertion Criteria Provided	CA350863884	rs_2073446479	1 SubmittersRCV001281348
NM_000091.5(COL4A3):c.1229G>A (p.Gly410Glu)	SNV Germline	Chr2:227263858	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350868834	rs_1350342816	1 SubmittersRCV001305868
NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)	SNV Germline	Chr2:227290792	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350855589	rs_2072647561	3 SubmittersRCV001321650 RCV001835617 RCV005014415
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)	SNV Germline	Chr2:227270873	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive Alport syndrome Alport syndrome Alport syndrome 3b, autosomal recessive COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA350871811	rs_2071193842	5 SubmittersRCV003311978 RCV001330979 RCV004789528 RCV004813166 RCV005225379
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)	SNV Germline	Chr2:227259802	Conflicting classifications of pathogenicity	Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2146510	rs_765336013	3 SubmittersRCV001352559 RCV002476620
NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu)	SNV Germline	Chr2:227276433	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350846311	rs_2071568063	2 SubmittersRCV001345510 RCV005023067
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)	SNV Germline	Chr2:227309227	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome COL4A3-related disorder Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147603	rs_369575989	7 SubmittersRCV001348296 RCV001831140 RCV004743417 RCV005023072
NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter)	SNV Unknown	Chr2:227293224	Pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350857349	rs_2106226493	1 SubmittersRCV001353239
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)	SNV Germline	Chr2:227244357	Pathogenic/Likely pathogenic	Condition: not provided Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350860670	rs_1414411811	3 SubmittersRCV001366917 RCV001826053
NM_000091.5(COL4A3):c.2881+1G>A	SNV Germline	Chr2:227284346	Pathogenic	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350852596	rs_1559899827	4 SubmittersRCV001377049 RCV001726512 RCV004789553
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)	SNV Germline	Chr2:227293282	Conflicting classifications of pathogenicity	Hearing impairment not specified Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA2147176	rs_560592940	3 SubmittersRCV001375284 RCV004690098 RCV005023117
NM_000091.5(COL4A3):c.235-1G>C	SNV Germline	Chr2:227244319	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350860460	rs_2125904309	1 SubmittersRCV001377489
NM_000091.5(COL4A3):c.279+1G>T	SNV Germline	Chr2:227244365	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Multiple Submitters No Conflicts	CA350860720	rs_202001097	2 SubmittersRCV001377659 RCV005023122
NM_000091.5(COL4A3):c.469-2A>G	SNV Germline	Chr2:227248441	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350863388	rs_2125916202	1 SubmittersRCV001379618
NM_000091.5(COL4A3):c.687+1G>T	SNV Germline	Chr2:227253338	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350864864	rs_2069903710	2 SubmittersRCV001379128 RCV005225393
NM_000091.5(COL4A3):c.828+1G>C	SNV Germline	Chr2:227254175	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350866046	rs_2125934710	1 SubmittersRCV001379140
NM_000091.5(COL4A3):c.828+2T>C	SNV Germline	Chr2:227254176	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350866049	rs_1490688611	1 SubmittersRCV001379803
NM_000091.5(COL4A3):c.888+1G>A	SNV Germline	Chr2:227254716	Pathogenic	Condition: not provided Alport syndrome	Criteria Provided Single Submitter	CA350866574	rs_2125936534	2 SubmittersRCV001379917 RCV005614532
NM_000091.5(COL4A3):c.1029+2T>G	SNV Germline	Chr2:227257646	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350867611	rs_2125947143	1 SubmittersRCV001378619
NM_000091.5(COL4A3):c.1114+2T>C	SNV Germline	Chr2:227259879	Likely pathogenic	Condition: not provided Alport syndrome	Criteria Provided Single Submitter	CA66628863	rs_956551930	2 SubmittersRCV001379352 RCV001836388
NM_000091.5(COL4A3):c.1373G>A (p.Gly458Glu)	SNV Germline	Chr2:227266474	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350870154	rs_2125981183	1 SubmittersRCV001379835
NM_000091.5(COL4A3):c.1984G>A (p.Gly662Arg)	SNV Germline	Chr2:227276441	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350846348	rs_2106124828	1 SubmittersRCV001379027
NM_000091.5(COL4A3):c.2882-2A>G	SNV Germline	Chr2:227289148	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350853843	rs_2072527010	1 SubmittersRCV001378334
NM_000091.5(COL4A3):c.3752-2A>G	SNV Germline	Chr2:227298680	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350860676	rs_2106250696	1 SubmittersRCV001378961
NM_000091.5(COL4A3):c.253G>T (p.Gly85Ter)	SNV Germline	Chr2:227244338	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350860607	rs_2125904394	1 SubmittersRCV001383680
NM_000091.5(COL4A3):c.1111C>T (p.Gln371Ter)	SNV Germline	Chr2:227259874	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350868506	rs_2125956727	1 SubmittersRCV001384279
NM_000091.5(COL4A3):c.1591C>T (p.Gln531Ter)	SNV Germline	Chr2:227270785	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350871515	rs_2125991063	1 SubmittersRCV001381723
NM_000091.5(COL4A3):c.2546C>G (p.Ser849Ter)	SNV Germline	Chr2:227282422	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350850257	rs_2072043249	1 SubmittersRCV001387821
NM_000091.5(COL4A3):c.2638G>T (p.Gly880Ter)	SNV Germline	Chr2:227282514	Pathogenic	Condition: not provided Alport syndrome	Criteria Provided Single Submitter	CA350850813	rs_2106164697	2 SubmittersRCV001383297 RCV005614536
NM_000091.5(COL4A3):c.3211-2A>C	SNV Germline	Chr2:227293189	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350857057	rs_2106226183	1 SubmittersRCV001380477
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)	SNV Germline	Chr2:227253570	Likely pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350864893	rs_2125932350	1 SubmittersRCV001391173
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)	SNV Germline	Chr2:227273055	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome Condition: not provided Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA350844952	rs_2125996486	4 SubmittersRCV001391171 RCV001871997 RCV005014551 RCV003458035
NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)	SNV Germline	Chr2:227280483	Conflicting classifications of pathogenicity	Inborn genetic diseases Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA350849047	rs_1308023279	2 SubmittersRCV004037710 RCV001391175
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)	SNV Germline	Chr2:227298699	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350860984	rs_2106250807	1 SubmittersRCV001391122
NM_000091.5(COL4A3):c.329C>G (p.Thr110Ser)	SNV Germline	Chr2:227245958	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2146054	rs_543390575	3 SubmittersRCV001407872 RCV005318793
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)	SNV Germline	Chr2:227293235	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2147166	rs_374427586	5 SubmittersRCV001419389 RCV004980462 RCV005023160 RCV005361603
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser)	SNV Germline	Chr2:227297690	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2147303	rs_761347389	4 SubmittersRCV001404734 RCV002499863 RCV005318790
NM_000091.5(COL4A3):c.3672A>G (p.Pro1224=)	SNV Germline	Chr2:227297780	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2147322	rs_768260547	2 SubmittersRCV001402480 RCV005023156
NM_000091.5(COL4A3):c.4028-15T>C	SNV Germline	Chr2:227304004	Conflicting classifications of pathogenicity	Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2147434	rs_764478470	3 SubmittersRCV001396871 RCV002499839
NM_000091.5(COL4A3):c.672A>G (p.Gly224=)	SNV Germline	Chr2:227253322	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2146259	rs_375059614	2 SubmittersRCV001423030
NM_000091.5(COL4A3):c.1515C>T (p.Gly505=)	SNV Germline	Chr2:227269920	Conflicting classifications of pathogenicity	Condition: not provided Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2146696	rs_200416402	3 SubmittersRCV001483843 RCV005023171
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn)	SNV Germline	Chr2:227283772	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Alport syndrome	Criteria Provided Conflicting Classifications	CA2146987	rs_376762135	4 SubmittersRCV001489753 RCV004980550 RCV005361627
NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu)	SNV Germline	Chr2:227282479	Pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350850585	rs_2072046668	1 SubmittersRCV001533419
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)	SNV Germline	Chr2:227253306	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Condition: not provided	Criteria Provided Conflicting Classifications	CA350864800	rs_2069900248	2 SubmittersRCV001535907 RCV005094746
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)	SNV Germline	Chr2:227277476	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Condition: not provided	Criteria Provided Conflicting Classifications	CA350846737	rs_2106132144	2 SubmittersRCV001535940 RCV001873798
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)	SNV Germline	Chr2:227297791	Likely pathogenic	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350860285	rs_1183958961	3 SubmittersRCV001535999 RCV003346606 RCV002568227
NM_000091.5(COL4A3):c.3500G>A (p.Gly1167Glu)	SNV Germline	Chr2:227295045	Pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350858954	rs_2106236091	1 SubmittersRCV001544541
NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)	SNV Germline	Chr2:227297699	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA431507169	rs_753945261	2 SubmittersRCV001559270 RCV001559269 RCV002072116
NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)	SNV Germline	Chr2:227307843	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA431508950	rs_2073573869	2 SubmittersRCV001559322 RCV001559321 RCV003771710
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)	SNV Germline	Chr2:227253561	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA350864874	rs_2125932297	3 SubmittersRCV001570144 RCV002476872
NM_000091.5(COL4A3):c.1409-3C>T	SNV Germline	Chr2:227266990	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA1332843292	rs_756390955	2 SubmittersRCV001581085
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)	SNV Germline	Chr2:227273113	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2146787	rs_752819997	3 SubmittersRCV001653054 RCV001827560
NM_000091.5(COL4A3):c.1643G>T (p.Gly548Val)	SNV Unknown	Chr2:227270837	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350871738	rs_2125991176	1 SubmittersRCV001663555
NM_000091.5(COL4A3):c.2881G>C (p.Gly961Arg)	SNV Germline	Chr2:227284345	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA350852592	rs_1285576172	2 SubmittersRCV001702999
NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)	SNV Germline	Chr2:227279802	Likely pathogenic	Autosomal dominant Alport syndrome Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350847476	rs_2071832975	2 SubmittersRCV001726707 RCV004785293
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu)	SNV Germline	Chr2:227251192	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2146221	rs_368480491	2 SubmittersRCV001733081
NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys)	SNV Germline	Chr2:227310948	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350866687	rs_2106295155	2 SubmittersRCV001756672 RCV005023221
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser)	SNV Germline	Chr2:227267043	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA2146665	rs_745472969	4 SubmittersRCV001765712 RCV004576995 RCV005014636
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)	SNV Germline	Chr2:227277524	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2146852	rs_754146345	3 SubmittersRCV001755242
NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys)	SNV Germline	Chr2:227263899	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2146594	rs_776919202	2 SubmittersRCV001780822
NM_000091.5(COL4A3):c.441+2T>C	SNV Germline	Chr2:227246740	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350861864	rs_2125911950	2 SubmittersRCV001780824
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)	SNV Germline	Chr2:227279835	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146880	rs_201198284	5 SubmittersRCV001787511 RCV005237990 RCV004611877 RCV005014664
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp)	SNV Germline	Chr2:227248494	Pathogenic/Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA350863597	rs_1014839148	2 SubmittersRCV001794993
NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg)	SNV Unknown	Chr2:227254707	Likely pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350866521	rs_2125936494	1 SubmittersRCV001801297
NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu)	SNV Germline	Chr2:227303859	Conflicting classifications of pathogenicity	Condition: not provided Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA350862351	rs_1178734829	2 SubmittersRCV001806494 RCV005023262
NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg)	SNV Germline	Chr2:227282460	Likely pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350850480	rs_1574782666	1 SubmittersRCV001808156
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)	SNV Germline	Chr2:227282374	Conflicting classifications of pathogenicity	Benign familial hematuria not specified Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA2146949	rs_779489401	5 SubmittersRCV001808182 RCV004699479 RCV005014673 RCV005095217
NM_000091.5(COL4A3):c.3070+1G>A	SNV Germline	Chr2:227290089	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA350855300	rs_2106206598	2 SubmittersRCV002014881 RCV002507739
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)	SNV Germline	Chr2:227282383	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350850160	rs_2072040353	4 SubmittersRCV001962647 RCV005016894
NM_000091.5(COL4A3):c.688-1G>A	SNV Germline	Chr2:227253560	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350864871	rs_2069929443	1 SubmittersRCV001989575
NM_000091.5(COL4A3):c.2224-2A>G	SNV Germline	Chr2:227280438	Likely pathogenic	Condition: not provided Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350848884	rs_1246102682	2 SubmittersRCV001979425 RCV004785421
NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter)	SNV Germline	Chr2:227309207	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350865466	rs_1574842143	2 SubmittersRCV001869979 RCV005023304
NM_000091.5(COL4A3):c.1900G>T (p.Gly634Ter)	SNV Germline	Chr2:227273090	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350845024	rs_1060499696	1 SubmittersRCV001948948
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)	SNV Germline	Chr2:227164751	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA66565436	rs_890999119	4 SubmittersRCV001881491 RCV004975776 RCV005005336
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)	SNV Germline	Chr2:227261099	Pathogenic/Likely pathogenic	Condition: not provided COL4A3-related disorder Alport syndrome Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350868617	rs_2125961933	4 SubmittersRCV001967866 RCV003407985 RCV004785404 RCV005023499
NM_000091.5(COL4A3):c.1114+1G>A	SNV Germline	Chr2:227259878	Likely pathogenic	Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350868528	rs_1286895614	2 SubmittersRCV002028537 RCV002497998
NM_000091.5(COL4A3):c.3955+1G>C	SNV Germline	Chr2:227303111	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350862279	rs_2106267620	1 SubmittersRCV001894247
NM_000091.5(COL4A3):c.2612G>T (p.Gly871Val)	SNV Germline	Chr2:227282488	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350850633	rs_1402894646	1 SubmittersRCV001993589
NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)	SNV Germline	Chr2:227244345	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2145968	rs_377136253	3 SubmittersRCV001904832 RCV005005314 RCV005542499
NM_000091.5(COL4A3):c.1891G>A (p.Gly631Arg)	SNV Germline	Chr2:227273081	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350845006	rs_2125996582	1 SubmittersRCV001960571
NM_000091.5(COL4A3):c.235-1G>A	SNV Germline	Chr2:227244319	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350860457	rs_2125904309	1 SubmittersRCV001972973
NM_000091.5(COL4A3):c.3210+2T>C	SNV Germline	Chr2:227290888	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350856142	rs_2106211133	1 SubmittersRCV002033923
NM_000091.5(COL4A3):c.766-5G>A	SNV Germline	Chr2:227254107	Conflicting classifications of pathogenicity	Condition: not provided COL4A3-related disorder Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Conflicting Classifications	CA2146364	rs_751236477	3 SubmittersRCV001932282 RCV003948780 RCV002482515
NM_000091.5(COL4A3):c.3716G>A (p.Gly1239Glu)	SNV Germline	Chr2:227297824	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA350860423	rs_2106247510	2 SubmittersRCV001938477
NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys)	SNV Germline	Chr2:227253296	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350864769	rs_1169752185	2 SubmittersRCV001996232 RCV005017045
NM_000091.5(COL4A3):c.3238G>A (p.Gly1080Arg)	SNV Germline	Chr2:227293218	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350857302	rs_1267839034	1 SubmittersRCV001946764
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)	SNV Germline	Chr2:227295009	Pathogenic	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA350858830	rs_2106235905	2 SubmittersRCV001970167 RCV002479583
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)	SNV Germline	Chr2:227303904	Pathogenic	Condition: not provided Autosomal recessive Alport syndrome Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA2147419	rs_375290088	6 SubmittersRCV001950918 RCV002271709 RCV003992591 RCV005002721
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)	SNV Germline	Chr2:227280546	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA350849251	rs_2106151987	2 SubmittersRCV002045754 RCV002507802
NM_000091.5(COL4A3):c.234+1G>A	SNV Germline	Chr2:227240233	Likely pathogenic	Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350859688	rs_1240838887	2 SubmittersRCV002040192 RCV002507775
NM_000091.5(COL4A3):c.184C>T (p.Gln62Ter)	SNV Germline	Chr2:227240182	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350859360	rs_2125891603	1 SubmittersRCV001954515
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)	SNV Germline	Chr2:227266492	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Multiple Submitters No Conflicts	CA350870191	rs_2125981235	2 SubmittersRCV001964405 RCV002492185
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)	SNV Germline	Chr2:227270788	Conflicting classifications of pathogenicity	Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive not specified	Criteria Provided Conflicting Classifications	CA2146723	rs_779575469	4 SubmittersRCV002017531 RCV002498013 RCV005361912 RCV004699635
NM_000091.5(COL4A3):c.3751G>A (p.Gly1251Ser)	SNV Germline	Chr2:227297859	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350860578	rs_2106247623	1 SubmittersRCV001996994
NM_000091.5(COL4A3):c.4993T>A (p.Cys1665Ser)	SNV Germline	Chr2:227311850	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350866840	rs_2106298115	1 SubmittersRCV002045286
NM_000091.5(COL4A3):c.4982G>A (p.Arg1661His)	SNV Germline	Chr2:227311839	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA2147700	rs_374158562	1 SubmittersRCV002015675
NM_000091.5(COL4A3):c.3517+1G>A	SNV Germline	Chr2:227295063	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350859016	rs_777495096	1 SubmittersRCV002020366
NM_000091.5(COL4A3):c.2374G>T (p.Gly792Ter)	SNV Germline	Chr2:227280590	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350849338	rs_2071892705	1 SubmittersRCV001921329
NM_000091.5(COL4A3):c.2800G>A (p.Gly934Arg)	SNV Germline	Chr2:227284264	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA2147030	rs_199956740	1 SubmittersRCV001921396
NM_000091.5(COL4A3):c.3566G>A (p.Gly1189Glu)	SNV Germline	Chr2:227297674	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350859884	rs_2106246658	1 SubmittersRCV001921503
NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg)	SNV Germline	Chr2:227297823	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350860420	rs_2106247498	2 SubmittersRCV001965544 RCV005025535
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)	SNV Germline	Chr2:227295008	Likely pathogenic	Condition: not provided Benign familial hematuria Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2147255	rs_774583962	2 SubmittersRCV001980273 RCV002479685
NM_000091.5(COL4A3):c.547-2A>G	SNV Germline	Chr2:227251138	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350863656	rs_2125924465	1 SubmittersRCV002047683
NM_000091.5(COL4A3):c.1408+1G>A	SNV Germline	Chr2:227266510	Pathogenic	Condition: not provided Alport syndrome	Criteria Provided Single Submitter	CA350870226	rs_1185847791	2 SubmittersRCV002007325 RCV005614735
NM_000091.5(COL4A3):c.2801G>C (p.Gly934Ala)	SNV Germline	Chr2:227284265	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350851984	rs_2106174926	1 SubmittersRCV001985916
NM_000091.5(COL4A3):c.2126-1G>A	SNV Germline	Chr2:227279792	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350847415	rs_2071831565	1 SubmittersRCV001978530
NM_000091.5(COL4A3):c.2216G>A (p.Gly739Glu)	SNV Germline	Chr2:227279883	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350847973	rs_2106147774	1 SubmittersRCV002024408
NM_000091.5(COL4A3):c.3518-2A>G	SNV Germline	Chr2:227295267	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350859069	rs_2106237105	1 SubmittersRCV002013918
NM_000091.5(COL4A3):c.4755+1G>A	SNV Germline	Chr2:227309319	Likely pathogenic	Condition: not provided Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350865873	rs_1346132592	2 SubmittersRCV002031020 RCV005025671
NM_000091.5(COL4A3):c.1054G>T (p.Glu352Ter)	SNV Germline	Chr2:227259817	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA66628748	rs_937387158	1 SubmittersRCV001957935
NM_000091.5(COL4A3):c.324+1G>A	SNV Germline	Chr2:227244996	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350861000	rs_2125906801	3 SubmittersRCV001990412 RCV005016969 RCV005614740
NM_000091.5(COL4A3):c.1033G>T (p.Glu345Ter)	SNV Germline	Chr2:227259796	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350868167	rs_760561462	1 SubmittersRCV001953449
NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg)	SNV Germline	Chr2:227263803	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA350868717	rs_2070734616	2 SubmittersRCV002041483 RCV004785339
NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg)	SNV Germline	Chr2:227282478	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350850579	rs_2106164384	2 SubmittersRCV001901395 RCV005016798
NM_000091.5(COL4A3):c.1443T>A (p.Tyr481Ter)	SNV Germline	Chr2:227267027	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350870306	rs_2070938396	1 SubmittersRCV001949503
NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys)	SNV Germline	Chr2:227270944	Pathogenic/Likely pathogenic	Condition: not provided Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350871960	rs_2125991456	2 SubmittersRCV001956364 RCV004785415
NM_000091.5(COL4A3):c.2375-2A>T	SNV Germline	Chr2:227280891	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350849347	rs_2071916145	1 SubmittersRCV002030601
NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu)	SNV Germline	Chr2:227251161	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Conflicting Classifications	CA2146216	rs_371173786	2 SubmittersRCV002045971 RCV002507804
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)	SNV Germline	Chr2:227297727	Pathogenic	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Multiple Submitters No Conflicts	CA350860021	rs_1167411352	2 SubmittersRCV001902520 RCV005005329
NM_000091.5(COL4A3):c.3176C>G (p.Ser1059Ter)	SNV Germline	Chr2:227290852	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350855946	rs_2072651666	1 SubmittersRCV001953694
NM_000091.5(COL4A3):c.4353C>A (p.His1451Gln)	SNV Germline	Chr2:227307810	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350864307	rs_886551469	1 SubmittersRCV002008180
NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu)	SNV Germline	Chr2:227279847	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350847727	rs_2106147306	2 SubmittersRCV002047222 RCV005023291
NM_000091.5(COL4A3):c.794G>A (p.Gly265Glu)	SNV Germline	Chr2:227254140	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350865912	rs_2069988351	1 SubmittersRCV002006505
NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala)	SNV Germline	Chr2:227290044	Conflicting classifications of pathogenicity	Condition: not provided Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350855058	rs_1204230457	2 SubmittersRCV001910856 RCV005016756
NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys)	SNV Germline	Chr2:227283850	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Autosomal recessive Alport syndrome Benign familial hematuria	Criteria Provided Conflicting Classifications	CA2147002	rs_761717909	2 SubmittersRCV001910076 RCV002490249
NM_000091.5(COL4A3):c.398G>T (p.Gly133Val)	SNV Germline	Chr2:227246695	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2146080	rs_750189238	2 SubmittersRCV001973662 RCV004785425
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)	SNV Germline	Chr2:227266473	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350870152	rs_757341933	3 SubmittersRCV001888088 RCV005005310
NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter)	SNV Germline	Chr2:227307722	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350864128	rs_2106283830	2 SubmittersRCV001916437 RCV005023435
NM_000091.5(COL4A3):c.274G>A (p.Val92Ile)	SNV Germline	Chr2:227244359	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal dominant Alport syndrome	Criteria Provided Conflicting Classifications	CA2145972	rs_200873401	3 SubmittersRCV002196495 RCV003089072 RCV003485767
NM_000091.5(COL4A3):c.2934A>T (p.Pro978=)	SNV Germline	Chr2:227289202	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA431504901	rs_2106201680	2 SubmittersRCV002121926 RCV005017149
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr)	SNV Germline	Chr2:227248506	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2146185	rs_188324379	3 SubmittersRCV002091027 RCV003007086
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter)	SNV Germline	Chr2:227254124	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350865869	rs_2125934541	1 SubmittersRCV002222946
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)	SNV Germline	Chr2:227266993	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350870239	rs_2125982395	4 SubmittersRCV002225062 RCV003089194 RCV005002806
NM_000091.5(COL4A3):c.548G>T (p.Gly183Val)	SNV Germline	Chr2:227251141	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350863681	rs_775544184	1 SubmittersRCV002244374
NM_000091.5(COL4A3):c.3337+1G>A	SNV Germline	Chr2:227293318	Pathogenic	Alport syndrome 3b, autosomal recessive	Criteria Provided Single Submitter	CA350858100	rs_1430568143	1 SubmittersRCV003333777
NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg)	SNV Germline	Chr2:227273063	Conflicting classifications of pathogenicity	Autosomal recessive Alport syndrome not specified Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA350844968	rs_2125996501	3 SubmittersRCV002250951 RCV004587334 RCV005025739
NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter)	SNV Germline	Chr2:227304105	Pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350862962	rs_2106271012	1 SubmittersRCV002251096
NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp)	SNV Germline	Chr2:227256353	Likely pathogenic	Autosomal dominant Alport syndrome	No Assertion Criteria Provided	CA350867173	rs_1287109722	1 SubmittersRCV002466748
NM_000091.5(COL4A3):c.793G>A (p.Gly265Arg)	SNV Germline	Chr2:227254139	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA66622047	rs_374787000	1 SubmittersRCV002267251
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp)	SNV Germline	Chr2:227280546	Pathogenic/Likely pathogenic	Autosomal dominant Alport syndrome Condition: not provided Hematuria, benign familial, 2	Criteria Provided Multiple Submitters No Conflicts	CA350849250	rs_2106151987	3 SubmittersRCV002272123 RCV003560912 RCV005620441
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)	SNV Germline	Chr2:227266465	Conflicting classifications of pathogenicity	not specified COL4A3-related disorder Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA350870138	rs_2070897613	4 SubmittersRCV002282964 RCV003403775 RCV002511152 RCV005017183
NM_000091.5(COL4A3):c.2656+1G>T	SNV Germline	Chr2:227282533	Likely pathogenic	Kidney disorder Inborn genetic diseases Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350850917	rs_2469770966	3 SubmittersRCV002294671 RCV003382879 RCV005017190
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter)	SNV Unknown	Chr2:227307886	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350864466	rs_2469931914	1 SubmittersRCV002306478
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter)	SNV Unknown	Chr2:227305038	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA66618133	rs_772528863	1 SubmittersRCV002306570
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter)	SNV Unknown	Chr2:227279859	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350847815	rs_2469748132	1 SubmittersRCV002306766
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter)	SNV Unknown	Chr2:227270923	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350871916	rs_2469685114	1 SubmittersRCV002306789
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter)	SNV Unknown	Chr2:227259829	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350868309	rs_752030126	1 SubmittersRCV002309788
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter)	SNV Unknown	Chr2:227270839	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350871741	rs_2469683983	1 SubmittersRCV002309839
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter)	SNV Unknown	Chr2:227309051	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350865333	rs_2469937744	1 SubmittersRCV002308006
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter)	SNV Unknown	Chr2:227309273	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350865689	rs_2469939276	1 SubmittersRCV002308110
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter)	SNV Unknown	Chr2:227282478	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350850582	rs_2106164384	1 SubmittersRCV002308161
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter)	SNV Unknown	Chr2:227293272	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350857686	rs_2469850008	1 SubmittersRCV002308335
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter)	SNV Unknown	Chr2:227251369	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350864085	rs_2469545819	1 SubmittersRCV002309030
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)	SNV Unknown	Chr2:227279837	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350847647	rs_2469747787	1 SubmittersRCV002309225
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)	SNV Unknown	Chr2:227308995	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350865135	rs_2469937391	1 SubmittersRCV002309257
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)	SNV Unknown	Chr2:227305071	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350863960	rs_2469916694	1 SubmittersRCV002309486
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)	SNV Unknown	Chr2:227269912	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350871086	rs_2071139043	1 SubmittersRCV002307332
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)	SNV Unknown	Chr2:227289218	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350854384	rs_2469816176	1 SubmittersRCV002310246
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)	SNV Germline	Chr2:227245999	Likely pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350861702	rs_2469502863	1 SubmittersRCV002468830
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)	SNV Germline	Chr2:227273004	Likely pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350844849	rs_2469700028	1 SubmittersRCV002468831
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)	SNV Germline	Chr2:227282434	Likely pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350850338	rs_2469769803	1 SubmittersRCV002468832
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)	SNV Germline	Chr2:227283821	Likely pathogenic	Autosomal dominant Alport syndrome	Criteria Provided Single Submitter	CA350851290	rs_1174417447	1 SubmittersRCV002468833
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)	SNV Germline	Chr2:227284328	Likely pathogenic	Autosomal recessive Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350852485	rs_2106175500	2 SubmittersRCV002468834 RCV005025837
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)	SNV Germline	Chr2:227309232	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2147608	rs_775823265	2 SubmittersRCV002469830
NM_000091.5(COL4A3):c.87+8G>C	SNV Germline	Chr2:227164821	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2580065861	rs_1223507970	2 SubmittersRCV002475115
NM_000091.5(COL4A3):c.3752-2A>C	SNV Germline	Chr2:227298680	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350860678	rs_2106250696	1 SubmittersRCV002508864
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)	SNV Germline	Chr2:227284258	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA350851932	rs_1338508417	3 SubmittersRCV005323305 RCV003053015
NM_000091.5(COL4A3):c.4033C>T (p.Arg1345Cys)	SNV Germline	Chr2:227304024	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2147437	rs_369088928	2 SubmittersRCV003051176 RCV003076405
NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser)	SNV Germline	Chr2:227280479	Conflicting classifications of pathogenicity	Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2 Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2146907	rs_770920210	3 SubmittersRCV005028161 RCV003068277 RCV004786812
NM_000091.5(COL4A3):c.1222C>T (p.Arg408Cys)	SNV Germline	Chr2:227263851	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2146584	rs_756863324	2 SubmittersRCV003084109 RCV005323327
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)	SNV Germline	Chr2:227263936	Likely pathogenic	Condition: not provided Alport syndrome Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350869600	rs_1237274947	4 SubmittersRCV003087862 RCV004786830 RCV005019662
NM_000091.5(COL4A3):c.933+1G>A	SNV Germline	Chr2:227256071	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA66625944	rs_932207890	1 SubmittersRCV003079040
NM_000091.5(COL4A3):c.1103G>A (p.Arg368His)	SNV Germline	Chr2:227259866	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome	Criteria Provided Conflicting Classifications	CA2146523	rs_748026747	2 SubmittersRCV003076100 RCV004786829
NM_000091.5(COL4A3):c.3059T>C (p.Met1020Thr)	SNV Germline	Chr2:227290077	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2147086	rs_202071907	3 SubmittersRCV003097447 RCV005028239 RCV005323348
NM_000091.5(COL4A3):c.3609G>A (p.Pro1203=)	SNV Germline	Chr2:227297717	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA66610387	rs_1045022382	2 SubmittersRCV003082306 RCV005028220
NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser)	SNV Germline	Chr2:227305002	Conflicting classifications of pathogenicity	Condition: not provided Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA350863725	rs_2106274329	3 SubmittersRCV003090309 RCV005028224
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala)	SNV Germline	Chr2:227245973	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA350861652	rs_1408412826	2 SubmittersRCV002611793 RCV005028274
NM_000091.5(COL4A3):c.145-2A>G	SNV Germline	Chr2:227240141	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350859022	rs_2469463138	1 SubmittersRCV002664285
NM_000091.5(COL4A3):c.998G>A (p.Gly333Glu)	SNV Germline	Chr2:227257613	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350867496	rs_1057519376	1 SubmittersRCV002651617
NM_000091.5(COL4A3):c.2155T>C (p.Ser719Pro)	SNV Germline	Chr2:227279822	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA2146877	rs_751113129	2 SubmittersRCV002651619 RCV005028326
NM_000091.5(COL4A3):c.2401G>A (p.Gly801Arg)	SNV Germline	Chr2:227280919	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350849409	rs_867945364	1 SubmittersRCV002664286
NM_000091.5(COL4A3):c.4028-27A>G	SNV Germline	Chr2:227303992	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA2580066019	rs_2469909789	1 SubmittersRCV002651621
NM_000091.5(COL4A3):c.692T>C (p.Val231Ala)	SNV Germline	Chr2:227253565	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA2146321	rs_747868845	2 SubmittersRCV002648030 RCV005028316
NM_000091.5(COL4A3):c.3713C>G (p.Thr1238Arg)	SNV Germline	Chr2:227297821	Conflicting classifications of pathogenicity	Condition: not provided COL4A3-related disorder	Criteria Provided Conflicting Classifications	CA2147330	rs_528758931	2 SubmittersRCV002640509 RCV003395623
NM_000091.5(COL4A3):c.275T>A (p.Val92Glu)	SNV Germline	Chr2:227244360	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA2145973	rs_768404745	2 SubmittersRCV003117927 RCV005021797
NM_000091.5(COL4A3):c.4982G>C (p.Arg1661Pro)	SNV Germline	Chr2:227311839	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350866817	rs_374158562	1 SubmittersRCV003111876
NM_000091.5(COL4A3):c.3071-1G>A	SNV Germline	Chr2:227290746	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350855390	rs_2469828189	1 SubmittersRCV002593252
NM_000091.5(COL4A3):c.1A>G (p.Met1Val)	SNV Germline	Chr2:227164727	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350845866	rs_1396602090	1 SubmittersRCV002597219
NM_000091.5(COL4A3):c.3419-1G>C	SNV Germline	Chr2:227294963	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350858662	rs_1358278568	1 SubmittersRCV002601291
NM_000091.5(COL4A3):c.272G>C (p.Gly91Ala)	SNV Germline	Chr2:227244357	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350860672	rs_1414411811	1 SubmittersRCV002734770
NM_000091.5(COL4A3):c.248T>A (p.Leu83His)	SNV Germline	Chr2:227244333	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2145965	rs_778209649	2 SubmittersRCV002800598 RCV004973643
NM_000091.5(COL4A3):c.4253-1G>A	SNV Germline	Chr2:227307709	Likely pathogenic	Condition: not provided Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350864100	rs_1268304692	2 SubmittersRCV002811690 RCV004786750
NM_000091.5(COL4A3):c.2020+1G>T	SNV Germline	Chr2:227276478	Likely pathogenic	Condition: not provided Alport syndrome	Criteria Provided Single Submitter	CA350846526	rs_2469724141	2 SubmittersRCV002861958 RCV005616482
NM_000091.5(COL4A3):c.3338-1G>A	SNV Germline	Chr2:227294489	Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Multiple Submitters No Conflicts	CA350858470	rs_1344548642	3 SubmittersRCV002923841 RCV005028052
NM_000091.5(COL4A3):c.687+13C>T	SNV Germline	Chr2:227253350	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Hematuria, benign familial, 2	Criteria Provided Conflicting Classifications	CA765684598	rs_1344117870	2 SubmittersRCV002929215 RCV005028060
NM_000091.5(COL4A3):c.2225G>A (p.Gly742Glu)	SNV Germline	Chr2:227280441	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350848895	rs_2469753610	1 SubmittersRCV003008400
NM_000091.5(COL4A3):c.3419-2A>G	SNV Germline	Chr2:227294962	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350858660	rs_867811322	1 SubmittersRCV003016983
NM_000091.5(COL4A3):c.3337+1G>T	SNV Germline	Chr2:227293318	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350858104	rs_1430568143	1 SubmittersRCV003020998
NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)	SNV Germline	Chr2:227297845	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant Alport syndrome Hematuria, benign familial, 2 Alport syndrome 3b, autosomal recessive Alport syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350860517	rs_1400784100	3 SubmittersRCV003018607 RCV005028115 RCV005616526
NM_000091.5(COL4A3):c.1688G>A (p.Gly563Glu)	SNV Germline	Chr2:227270882	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350871828	rs_2469684664	1 SubmittersRCV003042170
NM_000091.5(COL4A3):c.144+1G>C	SNV Germline	Chr2:227238025	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350858436	rs_2469448258	1 SubmittersRCV003042901
NM_000091.5(COL4A3):c.524T>A (p.Leu175Ter)	SNV Germline	Chr2:227248498	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350863603	rs_2469524371	1 SubmittersRCV003045256
NM_000091.5(COL4A3):c.4928+1G>T	SNV Germline	Chr2:227310949	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350866692	rs_2073718422	1 SubmittersRCV003038280
NM_000091.5(COL4A3):c.2908G>T (p.Gly970Ter)	SNV Germline	Chr2:227289176	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350854039	rs_2469815729	1 SubmittersRCV003035547
NM_000091.5(COL4A3):c.3088G>T (p.Gly1030Ter)	SNV Germline	Chr2:227290764	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350855482	rs_2469828350	1 SubmittersRCV003047521
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)	SNV Germline	Chr2:227263846	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146583	rs_373952897	3 SubmittersRCV002679070 RCV003481433 RCV005028402
NM_000091.5(COL4A3):c.3722G>A (p.Arg1241His)	SNV Germline	Chr2:227297830	Conflicting classifications of pathogenicity	Inborn genetic diseases Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA2147333	rs_201841428	3 SubmittersRCV002699392 RCV005028404 RCV005099111
NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile)	SNV Germline	Chr2:227246716	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Hematuria, benign familial, 2 Autosomal dominant Alport syndrome Alport syndrome 3b, autosomal recessive	Criteria Provided Conflicting Classifications	CA2146083	rs_555034953	3 SubmittersRCV002759528 RCV003778632 RCV005021777
NM_000091.5(COL4A3):c.610-1G>A	SNV Germline	Chr2:227251335	Likely pathogenic	Autosomal recessive Alport syndrome Alport syndrome 3b, autosomal recessive Autosomal dominant Alport syndrome Hematuria, benign familial, 2	Criteria Provided Multiple Submitters No Conflicts	CA350864011	rs_2469545357	2 SubmittersRCV003123358 RCV005029908
NM_000091.5(COL4A3):c.2275G>C (p.Gly759Arg)	SNV Germline	Chr2:227280491	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA350849081	rs_2071886531	1 SubmittersRCV003143639
NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)	SNV Unknown	Chr2:227310832	Pathogenic	Autosomal recessive Alport syndrome	Criteria Provided Single Submitter	CA350866105	rs_1064796314	1 SubmittersRCV003153073
NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg)	SNV Germline	Chr2:227284327	Likely pathogenic	Alport syndrome 3b, autosomal recessive	Criteria Provided Single Submitter	CA2147041	rs_771818723	1 SubmittersRCV005623107

NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter)

SNV
Germline

Chr2:227307898

Pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA257967

rs_121912824

8 SubmittersRCV000019036 RCV000760446 RCV005003387 RCV001273243

NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)

SNV
Germline

Chr2:227309007

Pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA257970

rs_121912825

3 SubmittersRCV000019037 RCV001851933

NM_000091.5(COL4A3):c.4929-388G>T

SNV
Germline

Chr2:227311398

Pathogenic

Autosomal recessive Alport syndrome

No Assertion Criteria Provided

CA539907209

rs_1325453230

1 SubmittersRCV000019040

NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)

SNV
Germline

Chr2:227290062

Likely pathogenic

Benign familial hematuria
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA127228

rs_121912826

3 SubmittersRCV000019041 RCV001281227

NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)

SNV
Germline

Chr2:227289222

Conflicting classifications of pathogenicity

Condition: not provided
Benign familial hematuria
Autosomal recessive Alport syndrome
Alport syndrome

Criteria Provided
Conflicting Classifications

CA127230

rs_121912827

5 SubmittersRCV000485138 RCV000019042 RCV000675182 RCV001831587

NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)

SNV
Germline

Chr2:227295044

Pathogenic

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA257973

rs_267606745

7 SubmittersRCV000019044 RCV000673273 RCV000681815 RCV001273241 RCV005003388

NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)

SNV
Germline

Chr2:227303867

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA236124

rs_759739044

3 SubmittersRCV000171335 RCV002485088

NM_000091.5(COL4A3):c.765G>T (p.Thr255=)

SNV
Germline

Chr2:227253638

Pathogenic/Likely pathogenic

Benign familial hematuria
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA352360

rs_869025328

2 SubmittersRCV000207854 RCV005025339

NM_000091.5(COL4A3):c.765+2T>C

SNV
Germline

Chr2:227253640

Pathogenic

Benign familial hematuria

Criteria Provided
Single Submitter

CA352413

rs_869025326

1 SubmittersRCV000207993

NM_000091.5(COL4A3):c.3410G>A (p.Gly1137Asp)

SNV
Germline

Chr2:227294562

Pathogenic

Benign familial hematuria

Criteria Provided
Single Submitter

CA352313

rs_869025327

1 SubmittersRCV000207687

NM_000091.5(COL4A3):c.998G>C (p.Gly333Ala)

SNV
Germline

Chr2:227257613

Pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA16044145

rs_1057519376

1 SubmittersRCV000416934

NM_000091.5(COL4A3):c.4382C>T (p.Pro1461Leu)

SNV
Germline

Chr2:227307839

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147525

rs_760462252

2 SubmittersRCV000416721 RCV004777620

NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys)

SNV
Germline

Chr2:227308910

Pathogenic

Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16044146

rs_1057519377

2 SubmittersRCV000416827 RCV002515584

NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)

SNV
Germline

Chr2:227293238

Conflicting classifications of pathogenicity

not specified
Alport syndrome
Condition: not provided
Inborn genetic diseases
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147167

rs_147085074

13 SubmittersRCV000248366 RCV000355980 RCV000842905 RCV003352814 RCV001509575

NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)

SNV
Germline

Chr2:227293250

Conflicting classifications of pathogenicity

not specified
Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147171

rs_201989155

7 SubmittersRCV000253135 RCV000263485 RCV000885027

NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)

SNV
Germline

Chr2:227293305

Conflicting classifications of pathogenicity

not specified
Alport syndrome
Condition: not provided
Kidney disorder
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2147181

rs_55816283

11 SubmittersRCV000243309 RCV001138911 RCV000954602 RCV002294099 RCV003891831

NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)

SNV
Germline

Chr2:227310913

Conflicting classifications of pathogenicity

not specified
Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147672

rs_183218622

10 SubmittersRCV000245793 RCV000277800 RCV000710827

NM_000091.5(COL4A3):c.765G>A (p.Thr255=)

SNV
Germline

Chr2:227253638

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10588923

rs_869025328

9 SubmittersRCV000256383 RCV000764364 RCV000735673 RCV005025408 RCV001859498

NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg)

SNV
Germline

Chr2:227273099

Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2146782

rs_761686437

7 SubmittersRCV000256394 RCV001029768 RCV001859499 RCV004786642 RCV005025409

NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)

SNV
Germline

Chr2:227311838

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome 3b, autosomal recessive
Benign familial hematuria
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147699

rs_201697532

26 SubmittersRCV000283598 RCV000516971 RCV000677316 RCV001141624 RCV001536080 RCV003401260 RCV005025430 RCV004549601 RCV005625514 RCV005355602

NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)

SNV
Germline

Chr2:227263885

Conflicting classifications of pathogenicity

Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146592

rs_201031986

7 SubmittersRCV000324429 RCV001029875 RCV001559268 RCV001580484 RCV005027429

NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)

SNV
Germline

Chr2:227303100

Conflicting classifications of pathogenicity

Alport syndrome
not specified
Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147392

rs_189574905

7 SubmittersRCV000385231 RCV000825741 RCV001276573 RCV000944934

NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)

SNV
Germline

Chr2:227308918

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2147561

rs_181952966

5 SubmittersRCV000942296 RCV000399705 RCV001276578 RCV001509570 RCV000825742

NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)

SNV
Germline

Chr2:227308930

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2147565

rs_200454769

9 SubmittersRCV000299191 RCV000920677 RCV000614849

NM_000091.5(COL4A3):c.4756-13A>T

SNV
Germline

Chr2:227310763

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147642

rs_190701197

3 SubmittersRCV000298174 RCV001513825

NM_000091.5(COL4A3):c.-13G>C

SNV
Germline

Chr2:227164714

Conflicting classifications of pathogenicity

Alport syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2145881

rs_770803750

2 SubmittersRCV000270943 RCV000607819

NM_000091.5(COL4A3):c.688-8G>T

SNV
Germline

Chr2:227253553

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2146318

rs_748843785

5 SubmittersRCV000312906 RCV000944959 RCV003983021

NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)

SNV
Germline

Chr2:227267067

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
COL4A3-related disorder
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146667

rs_200510532

9 SubmittersRCV000259762 RCV000519515 RCV003418049 RCV004584688 RCV003236582 RCV005018697

NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)

SNV
Germline

Chr2:227273117

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146789

rs_778034451

6 SubmittersRCV000348330 RCV000681803 RCV000761268 RCV005027430

NM_000091.5(COL4A3):c.1928-4T>C

SNV
Germline

Chr2:227276381

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146809

rs_376327706

2 SubmittersRCV000386566 RCV000930174

NM_000091.5(COL4A3):c.3228G>A (p.Pro1076=)

SNV
Germline

Chr2:227293208

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147159

rs_200125890

3 SubmittersRCV000303559 RCV000939249 RCV005027431

NM_000091.5(COL4A3):c.3419-8T>G

SNV
Germline

Chr2:227294956

Conflicting classifications of pathogenicity

Alport syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147245

rs_754483986

3 SubmittersRCV000354698 RCV005431625 RCV001503706

NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)

SNV
Germline

Chr2:227310845

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2147663

rs_756231749

5 SubmittersRCV000657998 RCV000369300 RCV001276580 RCV002469133

NM_000091.5(COL4A3):c.2489-8G>A

SNV
Germline

Chr2:227282357

Conflicting classifications of pathogenicity

Alport syndrome
Autosomal dominant Alport syndrome
Kidney disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146948

rs_201846272

5 SubmittersRCV000347162 RCV001274587 RCV002294297 RCV000882702

NM_000091.5(COL4A3):c.3196C>T (p.Pro1066Ser)

SNV
Germline

Chr2:227290872

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147129

rs_377003650

5 SubmittersRCV000392593 RCV002057673 RCV005018698

NM_000091.5(COL4A3):c.3566-9T>C

SNV
Germline

Chr2:227297665

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147301

rs_147886850

8 SubmittersRCV000333837 RCV000710818

NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)

SNV
Germline

Chr2:227237992

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Inborn genetic diseases
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2145906

rs_201607115

6 SubmittersRCV000380561 RCV000907824 RCV001274065 RCV003168506 RCV003957724

NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)

SNV
Germline

Chr2:227240219

Conflicting classifications of pathogenicity

Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2145944

rs_373975901

8 SubmittersRCV000374898 RCV000735745 RCV001243798 RCV005027428

NM_000091.5(COL4A3):c.516C>T (p.Asp172=)

SNV
Germline

Chr2:227248490

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146182

rs_759455097

3 SubmittersRCV000350833 RCV000976708 RCV001274578

NM_000091.5(COL4A3):c.1516G>A (p.Ala506Thr)

SNV
Germline

Chr2:227269921

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146697

rs_188967260

3 SubmittersRCV000317299 RCV001484290

NM_000091.5(COL4A3):c.2021-9G>C

SNV
Germline

Chr2:227277440

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614675

rs_773021303

2 SubmittersRCV000289906 RCV001437377

NM_000091.5(COL4A3):c.3882+10G>A

SNV
Germline

Chr2:227298822

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2147367

rs_78980950

4 SubmittersRCV000275534 RCV000894814 RCV005540060

NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)

SNV
Germline

Chr2:227303094

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2147389

rs_141552752

5 SubmittersRCV000328358 RCV000925691 RCV000825740

NM_000091.5(COL4A3):c.4100G>C (p.Gly1367Ala)

SNV
Germline

Chr2:227304091

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA10614687

rs_886055742

3 SubmittersRCV000379461 RCV003236796 RCV005027432

NM_000091.5(COL4A3):c.4153+10T>C

SNV
Germline

Chr2:227304154

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614688

rs_865866667

2 SubmittersRCV000287275 RCV001442380

NM_000091.5(COL4A3):c.4253-14T>C

SNV
Germline

Chr2:227307696

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147491

rs_747386514

2 SubmittersRCV000339994 RCV002057675

NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)

SNV
Germline

Chr2:227308959

Conflicting classifications of pathogenicity

Alport syndrome
not specified
Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147571

rs_200512461

12 SubmittersRCV000337893 RCV000825316 RCV001247514 RCV000673190 RCV001276579 RCV005003641

NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)

SNV
Germline

Chr2:227277511

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided
COL4A3-related disorder
Kidney disorder
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal recessive Alport syndrome
Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2146849

rs_200287952

16 SubmittersRCV000408794 RCV001240936 RCV003922661 RCV002294326 RCV001001294 RCV005004140 RCV003226288 RCV002225103 RCV002288979

NM_000091.5(COL4A3):c.2115T>A (p.Pro705=)

SNV
Germline

Chr2:227277543

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
not specified
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146854

rs_201419174

3 SubmittersRCV000408874 RCV003488579 RCV002480260

NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)

SNV
Germline

Chr2:227273108

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Microscopic hematuria
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2146786

rs_200672668

10 SubmittersRCV000410611 RCV000489873 RCV001580284 RCV005252872 RCV004699171 RCV005018703

NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)

SNV
Germline

Chr2:227279882

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16040867

rs_375040636

4 SubmittersRCV000411680 RCV001850974 RCV002502432

NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)

SNV
Germline

Chr2:227280587

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16609389

rs_1060499654

8 SubmittersRCV000449569 RCV000763472 RCV001213210 RCV001833572

NM_000091.5(COL4A3):c.2657-1G>T

SNV
Germline

Chr2:227283766

Conflicting classifications of pathogenicity

Hematuria
Glomerulopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16609390

rs_373324875

2 SubmittersRCV000449592 RCV001379028

NM_000091.5(COL4A3):c.1900G>A (p.Gly634Arg)

SNV
Germline

Chr2:227273090

Likely pathogenic

Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Single Submitter

rs_1060499696

1 SubmittersRCV005018741

NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)

SNV
Germline

Chr2:227310902

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147669

rs_773905198

5 SubmittersRCV000449509 RCV002063659 RCV001375162 RCV005027494

NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)

SNV
Germline

Chr2:227263804

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350868720

rs_1114167371

2 SubmittersRCV000490752

NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)

SNV
Germline

Chr2:227263813

Pathogenic/Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350868740

rs_1131691738

5 SubmittersRCV005004191 RCV001328055 RCV000493906

NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg)

SNV
Germline

Chr2:227266482

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350870169

rs_1135401954

2 SubmittersRCV000496506 RCV001851366

NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu)

SNV
Germline

Chr2:227303922

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA2147423

rs_748901402

1 SubmittersRCV000505590

NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)

SNV
Germline

Chr2:227311851

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147702

rs_376550779

4 SubmittersRCV000514326 RCV000673499 RCV004787818

NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)

SNV
Germline

Chr2:227248494

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA66617434

rs_1014839148

8 SubmittersRCV001805130 RCV000517824 RCV005018878 RCV001837945 RCV004742478

NM_000091.5(COL4A3):c.637G>A (p.Gly213Arg)

SNV
Germline

Chr2:227251363

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA350864073

rs_1553752192

2 SubmittersRCV000518723

NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)

SNV
Germline

Chr2:227266473

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2146631

rs_757341933

5 SubmittersRCV005018876 RCV000517256 RCV000763078 RCV004742476

NM_000091.5(COL4A3):c.1928-1G>A

SNV
Germline

Chr2:227276384

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350845991

rs_1364800683

2 SubmittersRCV000518494

NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)

SNV
Germline

Chr2:227279793

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350847422

rs_1553759430

3 SubmittersRCV001281222 RCV000516433 RCV005018877

NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)

SNV
Germline

Chr2:227280970

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
COL4A3-related disorder
Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA66598974

rs_868002181

12 SubmittersRCV000517367 RCV000668107 RCV001849395 RCV003419893 RCV004787823 RCV005027598 RCV005625656

NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)

SNV
Germline

Chr2:227293230

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350857395

rs_1192750535

4 SubmittersRCV000517710 RCV005027599

NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu)

SNV
Germline

Chr2:227297728

Pathogenic

Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA350860023

rs_1553764136

3 SubmittersRCV000518270 RCV002496993

NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)

SNV
Germline

Chr2:227310839

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2147660

rs_764046610

4 SubmittersRCV000517806 RCV005004208 RCV004742477

NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)

SNV
Germline

Chr2:227310845

Pathogenic

Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2147662

rs_756231749

7 SubmittersRCV000518704 RCV000668781 RCV001834658 RCV002468584 RCV002490880

NM_000091.5(COL4A3):c.441G>A (p.Pro147=)

SNV
Germline

Chr2:227246738

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146090

rs_373559251

7 SubmittersRCV000519854 RCV001272224 RCV003419915 RCV005431732 RCV005004215

NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)

SNV
Germline

Chr2:227273076

Conflicting classifications of pathogenicity

Chronic kidney disease
Condition: not provided
not specified
Alport syndrome
Inborn genetic diseases
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2146776

rs_139361545

9 SubmittersRCV001171326 RCV000727017 RCV001195565 RCV001274582 RCV004609422 RCV003960238

NM_000091.5(COL4A3):c.3882+5G>A

SNV
Germline

Chr2:227298817

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA658657247

rs_1553764454

5 SubmittersRCV000520022 RCV001089908 RCV005027613

NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)

SNV
Germline

Chr2:227307878

Conflicting classifications of pathogenicity

not specified
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Hearing impairment
Alport syndrome
COL4A3-related disorder
Benign familial hematuria

Criteria Provided
Conflicting Classifications

CA2147534

rs_200302125

28 SubmittersRCV000521759 RCV000987047 RCV000735744 RCV000710822 RCV001375164 RCV001276575 RCV003925556 RCV005625665

NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)

SNV
Germline

Chr2:227263845

Pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
COL4A3-related disorder
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA66631792

rs_371334239

8 SubmittersRCV000589718 RCV001046549 RCV001272227 RCV004722959 RCV005027693

NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)

SNV
Germline

Chr2:227308946

Conflicting classifications of pathogenicity

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
not specified
Autosomal recessive Alport syndrome
Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147568

rs_201671013

11 SubmittersRCV000597276 RCV000764366 RCV000825318 RCV000987048 RCV001139014 RCV005027704

NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)

SNV
Germline

Chr2:227307752

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
not specified
Autosomal dominant Alport syndrome
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2147500

rs_200509072

7 SubmittersRCV000597767 RCV000764365 RCV001174854 RCV001276574 RCV003952993

NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)

SNV
Germline

Chr2:227283809

Conflicting classifications of pathogenicity

Condition: not provided
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2146994

rs_201665434

4 SubmittersRCV000595829 RCV003403406

NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)

SNV
Germline

Chr2:227307902

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Alport syndrome
Autosomal dominant Alport syndrome
Kidney disorder
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2147537

rs_199755408

9 SubmittersRCV000596969 RCV000825738 RCV001276576 RCV001333197 RCV002294354 RCV003905552

NM_000091.5(COL4A3):c.573T>C (p.Pro191=)

SNV
Germline

Chr2:227251166

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146218

rs_375503109

4 SubmittersRCV000602145 RCV000903403 RCV001141279

NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)

SNV
Germline

Chr2:227297685

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA66610369

rs_972796332

3 SubmittersRCV000600771 RCV001770545

NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)

SNV
Germline

Chr2:227245990

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
not specified
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Inborn genetic diseases
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146063

rs_778886174

9 SubmittersRCV000625594 RCV001089905 RCV000825317 RCV001169840 RCV001855319 RCV004025283 RCV001834978

NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)

SNV
Germline

Chr2:227273045

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2146772

rs_773515249

8 SubmittersRCV000625624 RCV001089917 RCV001391170 RCV004788040 RCV000681773 RCV005019037

NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp)

SNV
Germline

Chr2:227283794

Likely pathogenic

Autosomal dominant Alport syndrome
COL4A3-related disorder
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350851148

rs_1553760558

3 SubmittersRCV000625572 RCV003935738 RCV005019036

NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)

SNV
Germline

Chr2:227290876

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147131

rs_55849096

4 SubmittersRCV000625595 RCV001756029 RCV005027735

NM_000091.5(COL4A3):c.2746+17C>T

SNV
Germline

Chr2:227283873

Conflicting classifications of pathogenicity

Hematuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658796192

rs_765408537

2 SubmittersRCV000626592 RCV002060703

NM_000091.5(COL4A3):c.325-1G>A

SNV
Unknown

Chr2:227245953

Likely pathogenic

Autosomal recessive Alport syndrome

No Assertion Criteria Provided

CA2146053

rs_762518741

1 SubmittersRCV000665178

NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)

SNV
Germline

Chr2:227247559

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2146140

rs_775373641

10 SubmittersRCV000666006 RCV000786994 RCV001052837 RCV001272225 RCV005019108 RCV003945699

NM_000091.5(COL4A3):c.468+1G>T

SNV
Germline

Chr2:227247585

Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350863270

rs_1553751122

3 SubmittersRCV000664871 RCV005027774 RCV005091920

NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)

SNV
Germline

Chr2:227263924

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome
Hearing impairment
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2146596

rs_534253913

10 SubmittersRCV000665542 RCV001280876 RCV001136570 RCV001375163 RCV001362305 RCV003155264 RCV005540136

NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)

SNV
Germline

Chr2:227263944

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350869638

rs_1553755124

5 SubmittersRCV000666899 RCV001807646 RCV001855469 RCV005004329

NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)

SNV
Germline

Chr2:227266455

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2146627

rs_772958162

6 SubmittersRCV000666502 RCV000681919 RCV001198699 RCV005019110

NM_000091.5(COL4A3):c.2747-1G>C

SNV
Germline

Chr2:227284210

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350851599

rs_1196996393

4 SubmittersRCV000671366 RCV001855558 RCV003225951 RCV005019142

NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)

SNV
Germline

Chr2:227290008

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350854767

rs_1553762113

5 SubmittersRCV000667045 RCV001226651 RCV004796271

NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg)

SNV
Germline

Chr2:227294999

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350858790

rs_749383170

4 SubmittersRCV000672753 RCV003558519 RCV005027818

NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)

SNV
Germline

Chr2:227240170

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
not specified
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2145933

rs_184730597

10 SubmittersRCV000669200 RCV000681942 RCV003313970 RCV003117473 RCV004788090 RCV005027800

NM_000091.5(COL4A3):c.468+1G>A

SNV
Unknown

Chr2:227247585

Likely pathogenic

Autosomal recessive Alport syndrome

No Assertion Criteria Provided

CA350863268

rs_1553751122

1 SubmittersRCV000671880

NM_000091.5(COL4A3):c.829-2A>C

SNV
Germline

Chr2:227254654

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350866110

rs_1553753119

2 SubmittersRCV000668638 RCV001868224

NM_000091.5(COL4A3):c.890G>A (p.Gly297Glu)

SNV
Germline

Chr2:227256027

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350866902

rs_1422638161

2 SubmittersRCV000664514 RCV004588087

NM_000091.5(COL4A3):c.1758+1G>A

SNV
Germline

Chr2:227270953

Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Single Submitter

CA350871976

rs_1553757096

2 SubmittersRCV000666005 RCV005027782

NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)

SNV
Germline

Chr2:227164727

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350845868

rs_1396602090

4 SubmittersRCV000670747 RCV001382714 RCV004788095

NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg)

SNV
Germline

Chr2:227277493

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350846829

rs_1553758919

2 SubmittersRCV000664680 RCV001855429

NM_000091.5(COL4A3):c.3210+1G>A

SNV
Germline

Chr2:227290887

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350856138

rs_1553762314

5 SubmittersRCV000670389 RCV001213668 RCV005004342

NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)

SNV
Germline

Chr2:227295017

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA66609052

rs_914878176

6 SubmittersRCV000672819 RCV001328059 RCV001250550 RCV001868265

NM_000091.5(COL4A3):c.279+1G>A

SNV
Germline

Chr2:227244365

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2145974

rs_202001097

3 SubmittersRCV000672721 RCV002532134 RCV005019148

NM_000091.5(COL4A3):c.388-1G>T

SNV
Germline

Chr2:227246684

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350861750

rs_1553750900

3 SubmittersRCV000668609 RCV001060728 RCV005004335

NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)

SNV
Germline

Chr2:227246688

Pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350861757

rs_1346138010

5 SubmittersRCV000674775 RCV000763077 RCV001218262 RCV001830467 RCV005019165

NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)

SNV
Germline

Chr2:227248443

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal recessive Alport syndrome
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146169

rs_764451365

6 SubmittersRCV000665296 RCV000730376 RCV002485524 RCV004788086

NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)

SNV
Germline

Chr2:227298759

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
not specified
focal and segmental glomerulosclerosis
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147362

rs_190598500

21 SubmittersRCV000671820 RCV000727653 RCV001143340 RCV001281229 RCV002249398 RCV002485556 RCV003992367 RCV003392513 RCV005027812

NM_000091.5(COL4A3):c.3883-2A>G

SNV
Germline

Chr2:227303036

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350861977

rs_1553765265

2 SubmittersRCV000673097 RCV003558521

NM_000091.5(COL4A3):c.4640+1G>A

SNV
Germline

Chr2:227309077

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350865425

rs_1553766404

2 SubmittersRCV000668666 RCV002531204

NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)

SNV
Germline

Chr2:227267043

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350870337

rs_745472969

2 SubmittersRCV000673812 RCV003489795

NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)

SNV
Germline

Chr2:227290785

Pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2147115

rs_766900945

6 SubmittersRCV000669678 RCV000735743 RCV001861779

NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)

SNV
Germline

Chr2:227310813

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2147656

rs_752452590

8 SubmittersRCV000665574 RCV000821858 RCV005027778 RCV005357888 RCV005623079

NM_000091.5(COL4A3):c.3148C>T (p.Gln1050Ter)

SNV
Germline

Chr2:227290824

Pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350855754

rs_1553762279

2 SubmittersRCV000667832 RCV001855489

NM_000091.5(COL4A3):c.3211-1G>C

SNV
Germline

Chr2:227293190

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350857066

rs_1553762936

3 SubmittersRCV000674071 RCV002532157

NM_000091.5(COL4A3):c.3751+1G>A

SNV
Germline

Chr2:227297860

Likely pathogenic

Autosomal recessive Alport syndrome
Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA2147334

rs_781566652

3 SubmittersRCV000670997 RCV001830450 RCV001379464

NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)

SNV
Germline

Chr2:227308922

Pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2147563

rs_769863513

5 SubmittersRCV000670558 RCV001861795 RCV005004343 RCV005250086

NM_000091.5(COL4A3):c.4872C>G (p.Tyr1624Ter)

SNV
Unknown

Chr2:227310892

Likely pathogenic

Autosomal recessive Alport syndrome

No Assertion Criteria Provided

CA350866431

rs_1351781261

1 SubmittersRCV000671855

NM_000091.5(COL4A3):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr2:227164728

Likely pathogenic

Autosomal recessive Alport syndrome

No Assertion Criteria Provided

CA350845870

rs_1553725815

1 SubmittersRCV000673067

NM_000091.5(COL4A3):c.645+2T>C

SNV
Germline

Chr2:227251373

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350864095

rs_1553752199

2 SubmittersRCV000673983 RCV003558527

NM_000091.5(COL4A3):c.1687G>A (p.Gly563Arg)

SNV
Germline

Chr2:227270881

Pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350871825

rs_1553757060

2 SubmittersRCV000674357 RCV001389288

NM_000091.5(COL4A3):c.1927+2T>C

SNV
Germline

Chr2:227273119

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350845077

rs_1158937060

3 SubmittersRCV000673180 RCV002532144 RCV005019153

NM_000091.5(COL4A3):c.2223+1G>A

SNV
Germline

Chr2:227279891

Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350848026

rs_1553759476

3 SubmittersRCV000671100 RCV001861802 RCV005027810

NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)

SNV
Germline

Chr2:227308982

Pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA66621122

rs_759873621

5 SubmittersRCV000667489 RCV001066963 RCV001328056 RCV005004331

NM_000091.5(COL4A3):c.4756-1G>A

SNV
Unknown

Chr2:227310775

Likely pathogenic

Autosomal recessive Alport syndrome

No Assertion Criteria Provided

CA350865945

rs_1553766735

1 SubmittersRCV000673520

NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)

SNV
Germline

Chr2:227297700

Pathogenic/Likely pathogenic

Condition: not provided
See cases
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA66610381

rs_920061910

4 SubmittersRCV000681698 RCV002252213 RCV004788108

NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)

SNV
Germline

Chr2:227282523

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350850872

rs_1559897288

3 SubmittersRCV000681728 RCV005019172

NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)

SNV
Germline

Chr2:227254699

Likely pathogenic

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350866447

rs_1425230568

4 SubmittersRCV000681788 RCV002507181 RCV005622001

NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)

SNV
Germline

Chr2:227256362

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Single Submitter

CA350867215

rs_1559872489

2 SubmittersRCV000681798 RCV005004360

NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu)

SNV
Germline

Chr2:227284274

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350852064

rs_1559899600

3 SubmittersRCV000681806 RCV005019174

NM_000091.5(COL4A3):c.1504+1G>A

SNV
Germline

Chr2:227267089

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350870432

rs_1559882199

4 SubmittersRCV000681808 RCV003236588

NM_000091.5(COL4A3):c.2881+1G>T

SNV
Germline

Chr2:227284346

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350852603

rs_1559899827

3 SubmittersRCV000681835

NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)

SNV
Germline

Chr2:227259859

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146520

rs_539765620

6 SubmittersRCV000681847 RCV005021045 RCV005431871

NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)

SNV
Germline

Chr2:227263830

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350868774

rs_1559878824

4 SubmittersRCV000681888 RCV005027839

NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)

SNV
Germline

Chr2:227256035

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
not specified
Benign familial hematuria
COL4A3-related disorder
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA2146424

rs_772708743

16 SubmittersRCV000681901 RCV000786971 RCV001272226 RCV001731883 RCV002289956 RCV003403579 RCV005027840 RCV005318478

NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)

SNV
Germline

Chr2:227289230

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147063

rs_769683665

3 SubmittersRCV000681932 RCV003447552 RCV005021047

NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)

SNV
Germline

Chr2:227257621

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA350867528

rs_1559873550

5 SubmittersRCV000681935 RCV001251195 RCV004788113 RCV002499210

NM_000091.5(COL4A3):c.547-1G>T

SNV
Germline

Chr2:227251139

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350863662

rs_1240347743

1 SubmittersRCV000710828

NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg)

SNV
Germline

Chr2:227257612

Conflicting classifications of pathogenicity

Condition: not provided
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2146486

rs_761819520

3 SubmittersRCV000710830 RCV003907965

NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser)

SNV
Germline

Chr2:227282469

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA350850524

rs_1559897190

5 SubmittersRCV000710816 RCV005027882 RCV004723128

NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)

SNV
Germline

Chr2:227309212

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147599

rs_200655479

5 SubmittersRCV000710824 RCV001544542 RCV001825415 RCV001281231

NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp)

SNV
Germline

Chr2:227307808

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA350864302

rs_1291948462

3 SubmittersRCV000727884

NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)

SNV
Germline

Chr2:227284312

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147040

rs_200044988

4 SubmittersRCV000728422

NM_000091.5(COL4A3):c.3825C>T (p.His1275=)

SNV
Germline

Chr2:227298755

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Alport syndrome
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147359

rs_143380907

6 SubmittersRCV000730422 RCV000825061 RCV001143339 RCV001276572

NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)

SNV
Germline

Chr2:227245972

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
COL4A3-related disorder
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146058

rs_202147112

9 SubmittersRCV000735661 RCV001089904 RCV001813801 RCV003411689 RCV004760761 RCV005029405

NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)

SNV
Germline

Chr2:227257637

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Condition: not provided
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146490

rs_200738124

6 SubmittersRCV000735662 RCV001574377 RCV004768626 RCV005004397 RCV004760762

NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg)

SNV
Germline

Chr2:227276459

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350846438

rs_1559890352

1 SubmittersRCV000735710

NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg)

SNV
Germline

Chr2:227280500

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350849122

rs_983885088

1 SubmittersRCV000735783

NM_000091.5(COL4A3):c.3230G>A (p.Gly1077Asp)

SNV
Germline

Chr2:227293210

Pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350857245

rs_1559909384

1 SubmittersRCV000735738

NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val)

SNV
Germline

Chr2:227273082

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome 3b, autosomal recessive
not specified
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA350845010

rs_1315862965

4 SubmittersRCV001869019 RCV004547945 RCV005240528 RCV003396315

NM_000091.5(COL4A3):c.3643C>T (p.Arg1215Ter)

SNV
Germline

Chr2:227297751

Pathogenic

Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2147314

rs_368434069

5 SubmittersRCV000760445 RCV001199941 RCV005029409 RCV004742628

NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)

SNV
Germline

Chr2:227297790

Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350860281

rs_1559913871

2 SubmittersRCV000761269 RCV002500988

NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg)

SNV
Germline

Chr2:227310803

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Condition: not provided
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147654

rs_766208466

4 SubmittersRCV000761225 RCV002533862 RCV003155307 RCV005029412

NM_000091.5(COL4A3):c.764C>T (p.Thr255Met)

SNV
Germline

Chr2:227253637

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Nephrotic syndrome
Condition: not provided
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146338

rs_573527081

7 SubmittersRCV000770773 RCV001328053 RCV001855721 RCV001731919 RCV005029415

NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)

SNV
Germline

Chr2:227263848

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
COL4A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA350868814

rs_1559878862

6 SubmittersRCV003236589 RCV002501014 RCV002535651 RCV004527804

NM_000091.5(COL4A3):c.2981G>A (p.Gly994Asp)

SNV
Germline

Chr2:227289999

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350854721

rs_1574803132

1 SubmittersRCV000786779

NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)

SNV
Germline

Chr2:227253598

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350865022

rs_1574699806

5 SubmittersRCV000787009 RCV004723175 RCV005029447 RCV001281283

NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)

SNV
Germline

Chr2:227270788

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided
Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350871528

rs_779575469

5 SubmittersRCV000786944 RCV001856210 RCV000995727 RCV005021176

NM_000091.5(COL4A3):c.3266G>A (p.Gly1089Asp)

SNV
Germline

Chr2:227293246

Pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350857514

rs_1574813382

1 SubmittersRCV000786972

NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)

SNV
Germline

Chr2:227297683

Likely pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Pilarowski-Bjornsson syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350859902

rs_1574823172

4 SubmittersRCV001391172 RCV000787016 RCV004540099 RCV005029448

NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu)

SNV
Germline

Chr2:227293237

Likely pathogenic

Benign familial hematuria
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350857442

rs_1574813350

2 SubmittersRCV000853582 RCV000790472 RCV005029452

NM_000091.5(COL4A3):c.1051C>T (p.Gln351Ter)

SNV
Germline

Chr2:227259814

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350868250

rs_1218470259

1 SubmittersRCV000812103

NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)

SNV
Germline

Chr2:227295021

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2147259

rs_145948549

5 SubmittersRCV000825665 RCV000912182 RCV001141509 RCV001274591 RCV003965608

NM_000091.5(COL4A3):c.-26G>T

SNV
Germline

Chr2:227164701

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2145880

rs_747049729

2 SubmittersRCV001143022 RCV000827311

NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg)

SNV
Germline

Chr2:227238016

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Condition: not provided
COL4A3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2145915

rs_200866082

5 SubmittersRCV001274066 RCV000844339 RCV003918312 RCV002538340

NM_000091.5(COL4A3):c.3337+6G>C

SNV
Germline

Chr2:227293323

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA66608206

rs_1008678288

2 SubmittersRCV000841207

NM_000091.5(COL4A3):c.205G>T (p.Glu69Ter)

SNV
Germline

Chr2:227240203

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350859524

rs_1574658390

1 SubmittersRCV000844888

NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=)

SNV
Germline

Chr2:227304050

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147441

rs_374672854

2 SubmittersRCV000893186 RCV001136777

NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)

SNV
Germline

Chr2:227272980

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
COL4A3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2146765

rs_781163705

8 SubmittersRCV000904280 RCV001253067 RCV001274581 RCV003958192 RCV004028543

NM_000091.5(COL4A3):c.934-6C>A

SNV
Germline

Chr2:227256337

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
COL4A3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2146444

rs_369438839

9 SubmittersRCV000899032 RCV001274579 RCV002502643 RCV003975707 RCV004973144

NM_000091.5(COL4A3):c.1863A>G (p.Gln621=)

SNV
Germline

Chr2:227273053

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146774

rs_771390525

4 SubmittersRCV000918655 RCV001141394 RCV001449655

NM_000091.5(COL4A3):c.1674C>T (p.Leu558=)

SNV
Germline

Chr2:227270868

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146735

rs_762241502

3 SubmittersRCV000941845 RCV001274580

NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=)

SNV
Germline

Chr2:227293244

Conflicting classifications of pathogenicity

Condition: not provided
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2147169

rs_770449474

3 SubmittersRCV000945153 RCV004743218

NM_000091.5(COL4A3):c.3210+8G>A

SNV
Germline

Chr2:227290894

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
Kidney disorder

Criteria Provided
Conflicting Classifications

CA2147139

rs_545181831

4 SubmittersRCV000943106 RCV001827006 RCV002294418

NM_000091.5(COL4A3):c.3751+7G>A

SNV
Germline

Chr2:227297866

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2147335

rs_750554079

4 SubmittersRCV000930521 RCV001141513 RCV003978084

NM_000091.5(COL4A3):c.468+9T>C

SNV
Germline

Chr2:227247593

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2146143

rs_754471166

4 SubmittersRCV000983069 RCV001138703 RCV003897995

NM_000091.5(COL4A3):c.87+7G>T

SNV
Germline

Chr2:227164820

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA915941768

rs_1358691399

2 SubmittersRCV000975346 RCV001143026

NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp)

SNV
Germline

Chr2:227297701

Likely pathogenic

Condition: not provided
COL4A3-related disorder
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2147306

rs_755849032

4 SubmittersRCV000991614 RCV003936250 RCV005029549

NM_000091.5(COL4A3):c.3619G>C (p.Gly1207Arg)

SNV
Germline

Chr2:227297727

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350860020

rs_1167411352

2 SubmittersRCV000991615

NM_000091.5(COL4A3):c.2489-1G>A

SNV
Germline

Chr2:227282364

Likely pathogenic

Condition: not provided
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350850121

rs_1574782406

3 SubmittersRCV000991613 RCV001089907

NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)

SNV
Germline

Chr2:227280498

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome
Inborn genetic diseases
Autosomal recessive Alport syndrome
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2146910

rs_747356302

6 SubmittersRCV000997690 RCV001559320 RCV001143241 RCV002550713 RCV001559319 RCV004743246

NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr2:227164754

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350845978

rs_1453590085

3 SubmittersRCV000995722 RCV001238070 RCV005021304

NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)

SNV
Germline

Chr2:227245980

Pathogenic

Condition: not provided
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350861664

rs_750308686

2 SubmittersRCV001221432 RCV000995723

NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg)

SNV
Germline

Chr2:227263812

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA350868735

rs_1574727988

3 SubmittersRCV000995725 RCV001238723 RCV005411629

NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg)

SNV
Germline

Chr2:227263917

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350869500

rs_1574728278

1 SubmittersRCV000995726

NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)

SNV
Germline

Chr2:227273021

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350844879

rs_1574753929

4 SubmittersRCV000995728 RCV001029935 RCV001858820

NM_000091.5(COL4A3):c.2746+1G>T

SNV
Germline

Chr2:227283857

Pathogenic

Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350851498

rs_1574786225

2 SubmittersRCV000995513 RCV003483750

NM_000091.5(COL4A3):c.2747-1G>T

SNV
Germline

Chr2:227284210

Pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350851601

rs_1196996393

1 SubmittersRCV000995514

NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu)

SNV
Germline

Chr2:227253330

Likely pathogenic

Autosomal recessive Alport syndrome
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350864849

rs_1574698507

2 SubmittersRCV001002784 RCV004789307

NM_000091.5(COL4A3):c.387+1G>A

SNV
Germline

Chr2:227246017

Pathogenic

Hereditary hearing loss and deafness

No Assertion Criteria Provided

CA350861739

rs_1574674108

1 SubmittersRCV001003416

NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp)

SNV
Germline

Chr2:227277449

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350846614

rs_1574767962

1 SubmittersRCV001004075

NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)

SNV
Germline

Chr2:227297752

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147315

rs_200443942

7 SubmittersRCV001007587 RCV001248769 RCV001702764 RCV001141512

NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter)

SNV
Germline

Chr2:227238022

Pathogenic

Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350858421

rs_1207493576

2 SubmittersRCV001029783 RCV005056794

NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn)

SNV
Germline

Chr2:227248488

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Conflicting Classifications

CA2146181

rs_377575924

3 SubmittersRCV001029786 RCV002552021 RCV002479225

NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp)

SNV
Germline

Chr2:227256380

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146451

rs_566993466

3 SubmittersRCV001029987 RCV004526065 RCV005029577

NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser)

SNV
Germline

Chr2:227263890

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350869359

rs_1363441287

1 SubmittersRCV001029865

NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)

SNV
Germline

Chr2:227263939

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146599

rs_148686474

3 SubmittersRCV001452926 RCV001029869

NM_000091.5(COL4A3):c.1505-2A>C

SNV
Germline

Chr2:227269908

Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA350871062

rs_1247804051

2 SubmittersRCV001029784 RCV002552020

NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)

SNV
Germline

Chr2:227269964

Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350871338

rs_1574745989

4 SubmittersRCV001029977 RCV001862430 RCV005021338

NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser)

SNV
Germline

Chr2:227282460

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350850478

rs_1574782666

1 SubmittersRCV001029940

NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp)

SNV
Germline

Chr2:227282488

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350850621

rs_1402894646

1 SubmittersRCV001029938

NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu)

SNV
Germline

Chr2:227284342

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA2147043

rs_746766677

1 SubmittersRCV001029989

NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)

SNV
Germline

Chr2:227290858

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147123

rs_202078295

5 SubmittersRCV001029944 RCV001138909 RCV001664628

NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg)

SNV
Germline

Chr2:227295307

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350859350

rs_1305836268

1 SubmittersRCV001029838

NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)

SNV
Germline

Chr2:227310846

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Alport syndrome

Criteria Provided
Conflicting Classifications

CA350866161

rs_1380878336

4 SubmittersRCV001029796 RCV004789365

NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)

SNV
Germline

Chr2:227270863

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Benign familial hematuria
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350871788

rs_1457269547

4 SubmittersRCV001039861 RCV001536113 RCV003336281 RCV005029594

NM_000091.5(COL4A3):c.2189G>A (p.Gly730Glu)

SNV
Germline

Chr2:227279856

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350847793

rs_2071838155

2 SubmittersRCV001053817 RCV005029623

NM_000091.5(COL4A3):c.3991G>T (p.Gly1331Ter)

SNV
Germline

Chr2:227303894

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350862539

rs_2073395126

1 SubmittersRCV001071599

NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)

SNV
Germline

Chr2:227304036

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Benign familial hematuria
Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA350862730

rs_2073401281

5 SubmittersRCV001069634 RCV001281230 RCV001089919 RCV001833664 RCV005029664

NM_000091.5(COL4A3):c.2375-2A>G

SNV
Germline

Chr2:227280891

Likely pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350849348

rs_2071916145

2 SubmittersRCV001039247 RCV004789375

NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)

SNV
Germline

Chr2:227279874

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Benign familial hematuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350847909

rs_773317939

2 SubmittersRCV001089918 RCV001862664

NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)

SNV
Germline

Chr2:227305066

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350863945

rs_2073446714

3 SubmittersRCV001089920 RCV004796364 RCV005029684

NM_000091.5(COL4A3):c.-10C>T

SNV
Germline

Chr2:227164717

Conflicting classifications of pathogenicity

Alport syndrome
not specified
Autosomal dominant Alport syndrome
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2145882

rs_781380101

4 SubmittersRCV001143023 RCV003490085 RCV003991040 RCV003938498

NM_000091.5(COL4A3):c.36C>T (p.Leu12=)

SNV
Germline

Chr2:227164762

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431500512

rs_1189095338

2 SubmittersRCV001143024 RCV001485821

NM_000091.5(COL4A3):c.513C>T (p.Gly171=)

SNV
Germline

Chr2:227248487

Conflicting classifications of pathogenicity

Alport syndrome
not specified
Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146180

rs_199514043

5 SubmittersRCV001138704 RCV003155361 RCV001843564 RCV002482264

NM_000091.5(COL4A3):c.717A>G (p.Gly239=)

SNV
Germline

Chr2:227253590

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146328

rs_377503376

2 SubmittersRCV001141282 RCV001423073

NM_000091.5(COL4A3):c.870T>C (p.Pro290=)

SNV
Germline

Chr2:227254697

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146401

rs_373130348

3 SubmittersRCV001143134 RCV002070721

NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)

SNV
Germline

Chr2:227270831

Conflicting classifications of pathogenicity

Alport syndrome
Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146727

rs_772037798

4 SubmittersRCV001141391 RCV001724254 RCV002070696 RCV005029710

NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)

SNV
Germline

Chr2:227272992

Conflicting classifications of pathogenicity

Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2146768

rs_369567469

4 SubmittersRCV001141392 RCV002505714 RCV002559370 RCV005318628

NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)

SNV
Germline

Chr2:227280993

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146934

rs_192027050

4 SubmittersRCV001143242 RCV001517137

NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)

SNV
Germline

Chr2:227289155

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
Inborn genetic diseases
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147057

rs_200801946

5 SubmittersRCV001415780 RCV001136673 RCV002556904 RCV005029704

NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)

SNV
Germline

Chr2:227289187

Conflicting classifications of pathogenicity

Alport syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147058

rs_758181560

3 SubmittersRCV001136674 RCV005056924 RCV003574839

NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)

SNV
Germline

Chr2:227309240

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147610

rs_764663555

2 SubmittersRCV001139016 RCV001428265

NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)

SNV
Germline

Chr2:227309241

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147611

rs_574102153

4 SubmittersRCV001139017 RCV001430168 RCV005029707

NM_000091.5(COL4A3):c.388-15T>C

SNV
Germline

Chr2:227246670

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Conflicting Classifications

CA2146075

rs_762513527

3 SubmittersRCV001138283 RCV002558310 RCV002491415

NM_000091.5(COL4A3):c.610-11G>A

SNV
Germline

Chr2:227251325

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146232

rs_566045388

2 SubmittersRCV001141280 RCV002070693

NM_000091.5(COL4A3):c.828+9T>C

SNV
Germline

Chr2:227254183

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1043065179

rs_2069991819

2 SubmittersRCV001143131 RCV001404373

NM_000091.5(COL4A3):c.829-15C>T

SNV
Germline

Chr2:227254641

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146393

rs_201021733

2 SubmittersRCV001143132 RCV001468066

NM_000091.5(COL4A3):c.1505-12G>A

SNV
Germline

Chr2:227269898

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146693

rs_114658110

2 SubmittersRCV001138811 RCV002070633

NM_000091.5(COL4A3):c.1576-6C>T

SNV
Germline

Chr2:227270764

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146720

rs_202210023

3 SubmittersRCV001423436 RCV001141390

NM_000091.5(COL4A3):c.2125+13T>C

SNV
Germline

Chr2:227277566

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146857

rs_777353565

2 SubmittersRCV001143240 RCV003727903

NM_000091.5(COL4A3):c.2656+12T>A

SNV
Germline

Chr2:227282544

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146968

rs_748254625

2 SubmittersRCV001136671 RCV003558701

NM_000091.5(COL4A3):c.4027+11G>T

SNV
Germline

Chr2:227303941

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147426

rs_191002419

2 SubmittersRCV001143342 RCV003558712

NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)

SNV
Germline

Chr2:227248468

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146172

rs_144036466

3 SubmittersRCV001458763 RCV001195691

NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)

SNV
Germline

Chr2:227254665

Likely pathogenic

Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350866178

rs_2070035662

2 SubmittersRCV001197525 RCV005029741

NM_000091.5(COL4A3):c.388-2A>G

SNV
Germline

Chr2:227246683

Likely pathogenic

Autosomal recessive Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350861746

rs_2069361375

3 SubmittersRCV001199933 RCV002497681 RCV003117842

NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)

SNV
Germline

Chr2:227267034

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Alport syndrome
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146661

rs_777401300

8 SubmittersRCV001200643 RCV002282478 RCV003336330 RCV005005066 RCV005359927

NM_000091.5(COL4A3):c.898G>T (p.Gly300Ter)

SNV
Germline

Chr2:227256035

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350866938

rs_772708743

1 SubmittersRCV001217316

NM_000091.5(COL4A3):c.2353G>T (p.Glu785Ter)

SNV
Germline

Chr2:227280569

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350849296

rs_755792441

1 SubmittersRCV001207365

NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)

SNV
Germline

Chr2:227290810

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA350855670

rs_2072649241

2 SubmittersRCV001208756 RCV002497715

NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg)

SNV
Germline

Chr2:227269945

Likely pathogenic

Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350871257

rs_2071142257

3 SubmittersRCV001238354 RCV001828901 RCV005014290

NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter)

SNV
Germline

Chr2:227279823

Pathogenic/Likely pathogenic

Condition: not provided
COL4A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA350847574

rs_1164505506

2 SubmittersRCV001245074 RCV003399008

NM_000091.5(COL4A3):c.1576-2A>C

SNV
Germline

Chr2:227270768

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350871449

rs_1291012482

1 SubmittersRCV001231546

NM_000091.5(COL4A3):c.766-2A>G

SNV
Germline

Chr2:227254110

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350865768

rs_2069985189

1 SubmittersRCV001245486

NM_000091.5(COL4A3):c.3566-2A>G

SNV
Germline

Chr2:227297672

Pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Single Submitter

CA66610365

rs_1055753755

2 SubmittersRCV001242109 RCV005614502

NM_000091.5(COL4A3):c.647G>T (p.Gly216Val)

SNV
Unknown

Chr2:227253297

Likely pathogenic

Benign familial hematuria

Criteria Provided
Single Submitter

CA350864774

rs_2069899081

1 SubmittersRCV001248776

NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)

SNV
Germline

Chr2:227251140

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350863674

rs_2069716520

1 SubmittersRCV001281282

NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser)

SNV
Germline

Chr2:227277502

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA2146847

rs_761780956

1 SubmittersRCV001281221

NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)

SNV
Germline

Chr2:227279820

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
not specified

Criteria Provided
Conflicting Classifications

CA350847552

rs_267599232

2 SubmittersRCV001281223 RCV005419053

NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)

SNV
Germline

Chr2:227280491

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350849079

rs_2071886531

2 SubmittersRCV001281224 RCV001301864

NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu)

SNV
Germline

Chr2:227280908

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350849390

rs_1283533086

1 SubmittersRCV001281225

NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)

SNV
Germline

Chr2:227309295

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
not specified

Criteria Provided
Conflicting Classifications

CA350865778

rs_2073646176

2 SubmittersRCV001281280 RCV003331093

NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)

SNV
Germline

Chr2:227311853

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147704

rs_759583948

4 SubmittersRCV001281281 RCV001836251 RCV001316984

NM_000091.5(COL4A3):c.2126-1G>C

SNV
Germline

Chr2:227279792

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350847416

rs_2071831565

1 SubmittersRCV001254145

NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter)

SNV
Unknown

Chr2:227240149

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350859063

rs_2068937789

1 SubmittersRCV001264036

NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter)

SNV
Unknown

Chr2:227244951

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350860821

rs_2069240492

1 SubmittersRCV001264037

NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter)

SNV
Unknown

Chr2:227257606

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA2146484

rs_768527987

1 SubmittersRCV001264038

NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter)

SNV
Unknown

Chr2:227263817

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350868749

rs_1348174898

1 SubmittersRCV001264039

NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)

SNV
Germline

Chr2:227263842

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350868804

rs_2070736908

2 SubmittersRCV001264040 RCV003542339

NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter)

SNV
Unknown

Chr2:227266509

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350870225

rs_2070901479

1 SubmittersRCV001264366

NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter)

SNV
Unknown

Chr2:227269936

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350871212

rs_921768118

1 SubmittersRCV001264367

NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter)

SNV
Germline

Chr2:227270809

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350871617

rs_2071189852

2 SubmittersRCV001264368 RCV001390141

NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter)

SNV
Unknown

Chr2:227270941

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA66637964

rs_920504687

1 SubmittersRCV001264369

NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter)

SNV
Unknown

Chr2:227273045

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350844930

rs_773515249

1 SubmittersRCV001264370

NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter)

SNV
Unknown

Chr2:227279864

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350847850

rs_2071839316

1 SubmittersRCV001264371

NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter)

SNV
Unknown

Chr2:227282466

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350850509

rs_2072046147

1 SubmittersRCV001264372

NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter)

SNV
Unknown

Chr2:227282493

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350850660

rs_2072047738

1 SubmittersRCV001264373

NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter)

SNV
Unknown

Chr2:227284298

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350852248

rs_2072184526

1 SubmittersRCV001263591

NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter)

SNV
Unknown

Chr2:227289221

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350854414

rs_2072530756

1 SubmittersRCV001263592

NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter)

SNV
Unknown

Chr2:227290852

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350855943

rs_2072651666

1 SubmittersRCV001263593

NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter)

SNV
Unknown

Chr2:227294514

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350858532

rs_2072936269

1 SubmittersRCV001263594

NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter)

SNV
Unknown

Chr2:227294522

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350858551

rs_2072936529

1 SubmittersRCV001263595

NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter)

SNV
Unknown

Chr2:227294525

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350858560

rs_2072936636

1 SubmittersRCV001263596

NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter)

SNV
Unknown

Chr2:227295316

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350859421

rs_2072983130

1 SubmittersRCV001263597

NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter)

SNV
Unknown

Chr2:227303107

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350862264

rs_2073363435

1 SubmittersRCV001263598

NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter)

SNV
Unknown

Chr2:227304027

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350862699

rs_2073400756

1 SubmittersRCV001263882

NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter)

SNV
Unknown

Chr2:227304045

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350862764

rs_2073401408

1 SubmittersRCV001263883

NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter)

SNV
Unknown

Chr2:227307727

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350864139

rs_2073567181

1 SubmittersRCV001263884

NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter)

SNV
Unknown

Chr2:227308951

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350864981

rs_2073628823

1 SubmittersRCV001263885

NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter)

SNV
Germline

Chr2:227309002

Pathogenic/Likely pathogenic

Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350865167

rs_2073630720

2 SubmittersRCV001263886 RCV005094260

NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser)

SNV
Germline

Chr2:227282373

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350850140

rs_2072039168

3 SubmittersRCV001266706 RCV004526823 RCV005014320

NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)

SNV
Germline

Chr2:227307805

Pathogenic

Inborn genetic diseases
Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350864298

rs_1189607438

4 SubmittersRCV001266707 RCV001386469 RCV001830069 RCV005005129

NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)

SNV
Germline

Chr2:227267052

Likely pathogenic

Alport syndrome
COL4A3-related disorder
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350870354

rs_1256505387

3 SubmittersRCV001328060 RCV003399042 RCV005005131

NM_000091.5(COL4A3):c.1822G>A (p.Gly608Arg)

SNV
Unknown

Chr2:227273012

Pathogenic

Hematuria

No Assertion Criteria Provided

CA350844861

rs_2071334080

1 SubmittersRCV001328288

NM_000091.5(COL4A3):c.2021G>T (p.Gly674Val)

SNV
Unknown

Chr2:227277449

Likely pathogenic

Hematuria

No Assertion Criteria Provided

CA350846618

rs_1574767962

1 SubmittersRCV001328057

NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)

SNV
Germline

Chr2:227298694

Conflicting classifications of pathogenicity

Alport syndrome
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147347

rs_759579368

3 SubmittersRCV001278696 RCV002486041 RCV002537806

NM_000091.5(COL4A3):c.1311G>T (p.Pro437=)

SNV
Germline

Chr2:227263940

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146600

rs_369557944

2 SubmittersRCV001280717

NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter)

SNV
Germline

Chr2:227305050

Likely pathogenic

Autosomal recessive Alport syndrome

No Assertion Criteria Provided

CA350863884

rs_2073446479

1 SubmittersRCV001281348

NM_000091.5(COL4A3):c.1229G>A (p.Gly410Glu)

SNV
Germline

Chr2:227263858

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350868834

rs_1350342816

1 SubmittersRCV001305868

NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)

SNV
Germline

Chr2:227290792

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350855589

rs_2072647561

3 SubmittersRCV001321650 RCV001835617 RCV005014415

NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)

SNV
Germline

Chr2:227270873

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome
Alport syndrome 3b, autosomal recessive
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA350871811

rs_2071193842

5 SubmittersRCV003311978 RCV001330979 RCV004789528 RCV004813166 RCV005225379

NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)

SNV
Germline

Chr2:227259802

Conflicting classifications of pathogenicity

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146510

rs_765336013

3 SubmittersRCV001352559 RCV002476620

NM_000091.5(COL4A3):c.1976G>A (p.Gly659Glu)

SNV
Germline

Chr2:227276433

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350846311

rs_2071568063

2 SubmittersRCV001345510 RCV005023067

NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)

SNV
Germline

Chr2:227309227

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome
COL4A3-related disorder
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147603

rs_369575989

7 SubmittersRCV001348296 RCV001831140 RCV004743417 RCV005023072

NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter)

SNV
Unknown

Chr2:227293224

Pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350857349

rs_2106226493

1 SubmittersRCV001353239

NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)

SNV
Germline

Chr2:227244357

Pathogenic/Likely pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350860670

rs_1414411811

3 SubmittersRCV001366917 RCV001826053

NM_000091.5(COL4A3):c.2881+1G>A

SNV
Germline

Chr2:227284346

Pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350852596

rs_1559899827

4 SubmittersRCV001377049 RCV001726512 RCV004789553

NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)

SNV
Germline

Chr2:227293282

Conflicting classifications of pathogenicity

Hearing impairment
not specified
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA2147176

rs_560592940

3 SubmittersRCV001375284 RCV004690098 RCV005023117

NM_000091.5(COL4A3):c.235-1G>C

SNV
Germline

Chr2:227244319

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350860460

rs_2125904309

1 SubmittersRCV001377489

NM_000091.5(COL4A3):c.279+1G>T

SNV
Germline

Chr2:227244365

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA350860720

rs_202001097

2 SubmittersRCV001377659 RCV005023122

NM_000091.5(COL4A3):c.469-2A>G

SNV
Germline

Chr2:227248441

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350863388

rs_2125916202

1 SubmittersRCV001379618

NM_000091.5(COL4A3):c.687+1G>T

SNV
Germline

Chr2:227253338

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350864864

rs_2069903710

2 SubmittersRCV001379128 RCV005225393

NM_000091.5(COL4A3):c.828+1G>C

SNV
Germline

Chr2:227254175

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350866046

rs_2125934710

1 SubmittersRCV001379140

NM_000091.5(COL4A3):c.828+2T>C

SNV
Germline

Chr2:227254176

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350866049

rs_1490688611

1 SubmittersRCV001379803

NM_000091.5(COL4A3):c.888+1G>A

SNV
Germline

Chr2:227254716

Pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Single Submitter

CA350866574

rs_2125936534

2 SubmittersRCV001379917 RCV005614532

NM_000091.5(COL4A3):c.1029+2T>G

SNV
Germline

Chr2:227257646

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350867611

rs_2125947143

1 SubmittersRCV001378619

NM_000091.5(COL4A3):c.1114+2T>C

SNV
Germline

Chr2:227259879

Likely pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Single Submitter

CA66628863

rs_956551930

2 SubmittersRCV001379352 RCV001836388

NM_000091.5(COL4A3):c.1373G>A (p.Gly458Glu)

SNV
Germline

Chr2:227266474

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350870154

rs_2125981183

1 SubmittersRCV001379835

NM_000091.5(COL4A3):c.1984G>A (p.Gly662Arg)

SNV
Germline

Chr2:227276441

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350846348

rs_2106124828

1 SubmittersRCV001379027

NM_000091.5(COL4A3):c.2882-2A>G

SNV
Germline

Chr2:227289148

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350853843

rs_2072527010

1 SubmittersRCV001378334

NM_000091.5(COL4A3):c.3752-2A>G

SNV
Germline

Chr2:227298680

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350860676

rs_2106250696

1 SubmittersRCV001378961

NM_000091.5(COL4A3):c.253G>T (p.Gly85Ter)

SNV
Germline

Chr2:227244338

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350860607

rs_2125904394

1 SubmittersRCV001383680

NM_000091.5(COL4A3):c.1111C>T (p.Gln371Ter)

SNV
Germline

Chr2:227259874

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350868506

rs_2125956727

1 SubmittersRCV001384279

NM_000091.5(COL4A3):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr2:227270785

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350871515

rs_2125991063

1 SubmittersRCV001381723

NM_000091.5(COL4A3):c.2546C>G (p.Ser849Ter)

SNV
Germline

Chr2:227282422

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350850257

rs_2072043249

1 SubmittersRCV001387821

NM_000091.5(COL4A3):c.2638G>T (p.Gly880Ter)

SNV
Germline

Chr2:227282514

Pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Single Submitter

CA350850813

rs_2106164697

2 SubmittersRCV001383297 RCV005614536

NM_000091.5(COL4A3):c.3211-2A>C

SNV
Germline

Chr2:227293189

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350857057

rs_2106226183

1 SubmittersRCV001380477

NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)

SNV
Germline

Chr2:227253570

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350864893

rs_2125932350

1 SubmittersRCV001391173

NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)

SNV
Germline

Chr2:227273055

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA350844952

rs_2125996486

4 SubmittersRCV001391171 RCV001871997 RCV005014551 RCV003458035

NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)

SNV
Germline

Chr2:227280483

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA350849047

rs_1308023279

2 SubmittersRCV004037710 RCV001391175

NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)

SNV
Germline

Chr2:227298699

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350860984

rs_2106250807

1 SubmittersRCV001391122

NM_000091.5(COL4A3):c.329C>G (p.Thr110Ser)

SNV
Germline

Chr2:227245958

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2146054

rs_543390575

3 SubmittersRCV001407872 RCV005318793

NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)

SNV
Germline

Chr2:227293235

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147166

rs_374427586

5 SubmittersRCV001419389 RCV004980462 RCV005023160 RCV005361603

NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser)

SNV
Germline

Chr2:227297690

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2147303

rs_761347389

4 SubmittersRCV001404734 RCV002499863 RCV005318790

NM_000091.5(COL4A3):c.3672A>G (p.Pro1224=)

SNV
Germline

Chr2:227297780

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2147322

rs_768260547

2 SubmittersRCV001402480 RCV005023156

NM_000091.5(COL4A3):c.4028-15T>C

SNV
Germline

Chr2:227304004

Conflicting classifications of pathogenicity

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2147434

rs_764478470

3 SubmittersRCV001396871 RCV002499839

NM_000091.5(COL4A3):c.672A>G (p.Gly224=)

SNV
Germline

Chr2:227253322

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146259

rs_375059614

2 SubmittersRCV001423030

NM_000091.5(COL4A3):c.1515C>T (p.Gly505=)

SNV
Germline

Chr2:227269920

Conflicting classifications of pathogenicity

Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146696

rs_200416402

3 SubmittersRCV001483843 RCV005023171

NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn)

SNV
Germline

Chr2:227283772

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146987

rs_376762135

4 SubmittersRCV001489753 RCV004980550 RCV005361627

NM_000091.5(COL4A3):c.2603G>A (p.Gly868Glu)

SNV
Germline

Chr2:227282479

Pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350850585

rs_2072046668

1 SubmittersRCV001533419

NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)

SNV
Germline

Chr2:227253306

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350864800

rs_2069900248

2 SubmittersRCV001535907 RCV005094746

NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)

SNV
Germline

Chr2:227277476

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350846737

rs_2106132144

2 SubmittersRCV001535940 RCV001873798

NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)

SNV
Germline

Chr2:227297791

Likely pathogenic

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350860285

rs_1183958961

3 SubmittersRCV001535999 RCV003346606 RCV002568227

NM_000091.5(COL4A3):c.3500G>A (p.Gly1167Glu)

SNV
Germline

Chr2:227295045

Pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350858954

rs_2106236091

1 SubmittersRCV001544541

NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)

SNV
Germline

Chr2:227297699

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431507169

rs_753945261

2 SubmittersRCV001559270 RCV001559269 RCV002072116

NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)

SNV
Germline

Chr2:227307843

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431508950

rs_2073573869

2 SubmittersRCV001559322 RCV001559321 RCV003771710

NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)

SNV
Germline

Chr2:227253561

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA350864874

rs_2125932297

3 SubmittersRCV001570144 RCV002476872

NM_000091.5(COL4A3):c.1409-3C>T

SNV
Germline

Chr2:227266990

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA1332843292

rs_756390955

2 SubmittersRCV001581085

NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)

SNV
Germline

Chr2:227273113

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146787

rs_752819997

3 SubmittersRCV001653054 RCV001827560

NM_000091.5(COL4A3):c.1643G>T (p.Gly548Val)

SNV
Unknown

Chr2:227270837

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350871738

rs_2125991176

1 SubmittersRCV001663555

NM_000091.5(COL4A3):c.2881G>C (p.Gly961Arg)

SNV
Germline

Chr2:227284345

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA350852592

rs_1285576172

2 SubmittersRCV001702999

NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)

SNV
Germline

Chr2:227279802

Likely pathogenic

Autosomal dominant Alport syndrome
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350847476

rs_2071832975

2 SubmittersRCV001726707 RCV004785293

NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu)

SNV
Germline

Chr2:227251192

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146221

rs_368480491

2 SubmittersRCV001733081

NM_000091.5(COL4A3):c.4928G>A (p.Arg1643Lys)

SNV
Germline

Chr2:227310948

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350866687

rs_2106295155

2 SubmittersRCV001756672 RCV005023221

NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser)

SNV
Germline

Chr2:227267043

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA2146665

rs_745472969

4 SubmittersRCV001765712 RCV004576995 RCV005014636

NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)

SNV
Germline

Chr2:227277524

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146852

rs_754146345

3 SubmittersRCV001755242

NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys)

SNV
Germline

Chr2:227263899

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146594

rs_776919202

2 SubmittersRCV001780822

NM_000091.5(COL4A3):c.441+2T>C

SNV
Germline

Chr2:227246740

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350861864

rs_2125911950

2 SubmittersRCV001780824

NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)

SNV
Germline

Chr2:227279835

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146880

rs_201198284

5 SubmittersRCV001787511 RCV005237990 RCV004611877 RCV005014664

NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp)

SNV
Germline

Chr2:227248494

Pathogenic/Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA350863597

rs_1014839148

2 SubmittersRCV001794993

NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg)

SNV
Unknown

Chr2:227254707

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350866521

rs_2125936494

1 SubmittersRCV001801297

NM_000091.5(COL4A3):c.3956G>A (p.Gly1319Glu)

SNV
Germline

Chr2:227303859

Conflicting classifications of pathogenicity

Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA350862351

rs_1178734829

2 SubmittersRCV001806494 RCV005023262

NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg)

SNV
Germline

Chr2:227282460

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350850480

rs_1574782666

1 SubmittersRCV001808156

NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)

SNV
Germline

Chr2:227282374

Conflicting classifications of pathogenicity

Benign familial hematuria
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2146949

rs_779489401

5 SubmittersRCV001808182 RCV004699479 RCV005014673 RCV005095217

NM_000091.5(COL4A3):c.3070+1G>A

SNV
Germline

Chr2:227290089

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA350855300

rs_2106206598

2 SubmittersRCV002014881 RCV002507739

NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu)

SNV
Germline

Chr2:227282383

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350850160

rs_2072040353

4 SubmittersRCV001962647 RCV005016894

NM_000091.5(COL4A3):c.688-1G>A

SNV
Germline

Chr2:227253560

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350864871

rs_2069929443

1 SubmittersRCV001989575

NM_000091.5(COL4A3):c.2224-2A>G

SNV
Germline

Chr2:227280438

Likely pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350848884

rs_1246102682

2 SubmittersRCV001979425 RCV004785421

NM_000091.5(COL4A3):c.4644C>A (p.Cys1548Ter)

SNV
Germline

Chr2:227309207

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350865466

rs_1574842143

2 SubmittersRCV001869979 RCV005023304

NM_000091.5(COL4A3):c.1900G>T (p.Gly634Ter)

SNV
Germline

Chr2:227273090

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350845024

rs_1060499696

1 SubmittersRCV001948948

NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)

SNV
Germline

Chr2:227164751

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA66565436

rs_890999119

4 SubmittersRCV001881491 RCV004975776 RCV005005336

NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)

SNV
Germline

Chr2:227261099

Pathogenic/Likely pathogenic

Condition: not provided
COL4A3-related disorder
Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350868617

rs_2125961933

4 SubmittersRCV001967866 RCV003407985 RCV004785404 RCV005023499

NM_000091.5(COL4A3):c.1114+1G>A

SNV
Germline

Chr2:227259878

Likely pathogenic

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350868528

rs_1286895614

2 SubmittersRCV002028537 RCV002497998

NM_000091.5(COL4A3):c.3955+1G>C

SNV
Germline

Chr2:227303111

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350862279

rs_2106267620

1 SubmittersRCV001894247

NM_000091.5(COL4A3):c.2612G>T (p.Gly871Val)

SNV
Germline

Chr2:227282488

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350850633

rs_1402894646

1 SubmittersRCV001993589

NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)

SNV
Germline

Chr2:227244345

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2145968

rs_377136253

3 SubmittersRCV001904832 RCV005005314 RCV005542499

NM_000091.5(COL4A3):c.1891G>A (p.Gly631Arg)

SNV
Germline

Chr2:227273081

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350845006

rs_2125996582

1 SubmittersRCV001960571

NM_000091.5(COL4A3):c.235-1G>A

SNV
Germline

Chr2:227244319

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350860457

rs_2125904309

1 SubmittersRCV001972973

NM_000091.5(COL4A3):c.3210+2T>C

SNV
Germline

Chr2:227290888

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350856142

rs_2106211133

1 SubmittersRCV002033923

NM_000091.5(COL4A3):c.766-5G>A

SNV
Germline

Chr2:227254107

Conflicting classifications of pathogenicity

Condition: not provided
COL4A3-related disorder
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146364

rs_751236477

3 SubmittersRCV001932282 RCV003948780 RCV002482515

NM_000091.5(COL4A3):c.3716G>A (p.Gly1239Glu)

SNV
Germline

Chr2:227297824

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA350860423

rs_2106247510

2 SubmittersRCV001938477

NM_000091.5(COL4A3):c.646G>T (p.Gly216Cys)

SNV
Germline

Chr2:227253296

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350864769

rs_1169752185

2 SubmittersRCV001996232 RCV005017045

NM_000091.5(COL4A3):c.3238G>A (p.Gly1080Arg)

SNV
Germline

Chr2:227293218

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350857302

rs_1267839034

1 SubmittersRCV001946764

NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)

SNV
Germline

Chr2:227295009

Pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA350858830

rs_2106235905

2 SubmittersRCV001970167 RCV002479583

NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)

SNV
Germline

Chr2:227303904

Pathogenic

Condition: not provided
Autosomal recessive Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA2147419

rs_375290088

6 SubmittersRCV001950918 RCV002271709 RCV003992591 RCV005002721

NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)

SNV
Germline

Chr2:227280546

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA350849251

rs_2106151987

2 SubmittersRCV002045754 RCV002507802

NM_000091.5(COL4A3):c.234+1G>A

SNV
Germline

Chr2:227240233

Likely pathogenic

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350859688

rs_1240838887

2 SubmittersRCV002040192 RCV002507775

NM_000091.5(COL4A3):c.184C>T (p.Gln62Ter)

SNV
Germline

Chr2:227240182

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350859360

rs_2125891603

1 SubmittersRCV001954515

NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)

SNV
Germline

Chr2:227266492

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Multiple Submitters
No Conflicts

CA350870191

rs_2125981235

2 SubmittersRCV001964405 RCV002492185

NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)

SNV
Germline

Chr2:227270788

Conflicting classifications of pathogenicity

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
not specified

Criteria Provided
Conflicting Classifications

CA2146723

rs_779575469

4 SubmittersRCV002017531 RCV002498013 RCV005361912 RCV004699635

NM_000091.5(COL4A3):c.3751G>A (p.Gly1251Ser)

SNV
Germline

Chr2:227297859

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350860578

rs_2106247623

1 SubmittersRCV001996994

NM_000091.5(COL4A3):c.4993T>A (p.Cys1665Ser)

SNV
Germline

Chr2:227311850

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350866840

rs_2106298115

1 SubmittersRCV002045286

NM_000091.5(COL4A3):c.4982G>A (p.Arg1661His)

SNV
Germline

Chr2:227311839

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA2147700

rs_374158562

1 SubmittersRCV002015675

NM_000091.5(COL4A3):c.3517+1G>A

SNV
Germline

Chr2:227295063

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350859016

rs_777495096

1 SubmittersRCV002020366

NM_000091.5(COL4A3):c.2374G>T (p.Gly792Ter)

SNV
Germline

Chr2:227280590

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350849338

rs_2071892705

1 SubmittersRCV001921329

NM_000091.5(COL4A3):c.2800G>A (p.Gly934Arg)

SNV
Germline

Chr2:227284264

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA2147030

rs_199956740

1 SubmittersRCV001921396

NM_000091.5(COL4A3):c.3566G>A (p.Gly1189Glu)

SNV
Germline

Chr2:227297674

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350859884

rs_2106246658

1 SubmittersRCV001921503

NM_000091.5(COL4A3):c.3715G>A (p.Gly1239Arg)

SNV
Germline

Chr2:227297823

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350860420

rs_2106247498

2 SubmittersRCV001965544 RCV005025535

NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)

SNV
Germline

Chr2:227295008

Likely pathogenic

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2147255

rs_774583962

2 SubmittersRCV001980273 RCV002479685

NM_000091.5(COL4A3):c.547-2A>G

SNV
Germline

Chr2:227251138

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350863656

rs_2125924465

1 SubmittersRCV002047683

NM_000091.5(COL4A3):c.1408+1G>A

SNV
Germline

Chr2:227266510

Pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Single Submitter

CA350870226

rs_1185847791

2 SubmittersRCV002007325 RCV005614735

NM_000091.5(COL4A3):c.2801G>C (p.Gly934Ala)

SNV
Germline

Chr2:227284265

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350851984

rs_2106174926

1 SubmittersRCV001985916

NM_000091.5(COL4A3):c.2126-1G>A

SNV
Germline

Chr2:227279792

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350847415

rs_2071831565

1 SubmittersRCV001978530

NM_000091.5(COL4A3):c.2216G>A (p.Gly739Glu)

SNV
Germline

Chr2:227279883

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350847973

rs_2106147774

1 SubmittersRCV002024408

NM_000091.5(COL4A3):c.3518-2A>G

SNV
Germline

Chr2:227295267

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350859069

rs_2106237105

1 SubmittersRCV002013918

NM_000091.5(COL4A3):c.4755+1G>A

SNV
Germline

Chr2:227309319

Likely pathogenic

Condition: not provided
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350865873

rs_1346132592

2 SubmittersRCV002031020 RCV005025671

NM_000091.5(COL4A3):c.1054G>T (p.Glu352Ter)

SNV
Germline

Chr2:227259817

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA66628748

rs_937387158

1 SubmittersRCV001957935

NM_000091.5(COL4A3):c.324+1G>A

SNV
Germline

Chr2:227244996

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350861000

rs_2125906801

3 SubmittersRCV001990412 RCV005016969 RCV005614740

NM_000091.5(COL4A3):c.1033G>T (p.Glu345Ter)

SNV
Germline

Chr2:227259796

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350868167

rs_760561462

1 SubmittersRCV001953449

NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg)

SNV
Germline

Chr2:227263803

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA350868717

rs_2070734616

2 SubmittersRCV002041483 RCV004785339

NM_000091.5(COL4A3):c.2602G>C (p.Gly868Arg)

SNV
Germline

Chr2:227282478

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350850579

rs_2106164384

2 SubmittersRCV001901395 RCV005016798

NM_000091.5(COL4A3):c.1443T>A (p.Tyr481Ter)

SNV
Germline

Chr2:227267027

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350870306

rs_2070938396

1 SubmittersRCV001949503

NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys)

SNV
Germline

Chr2:227270944

Pathogenic/Likely pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350871960

rs_2125991456

2 SubmittersRCV001956364 RCV004785415

NM_000091.5(COL4A3):c.2375-2A>T

SNV
Germline

Chr2:227280891

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350849347

rs_2071916145

1 SubmittersRCV002030601

NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu)

SNV
Germline

Chr2:227251161

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Conflicting Classifications

CA2146216

rs_371173786

2 SubmittersRCV002045971 RCV002507804

NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)

SNV
Germline

Chr2:227297727

Pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA350860021

rs_1167411352

2 SubmittersRCV001902520 RCV005005329

NM_000091.5(COL4A3):c.3176C>G (p.Ser1059Ter)

SNV
Germline

Chr2:227290852

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350855946

rs_2072651666

1 SubmittersRCV001953694

NM_000091.5(COL4A3):c.4353C>A (p.His1451Gln)

SNV
Germline

Chr2:227307810

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350864307

rs_886551469

1 SubmittersRCV002008180

NM_000091.5(COL4A3):c.2180G>A (p.Gly727Glu)

SNV
Germline

Chr2:227279847

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350847727

rs_2106147306

2 SubmittersRCV002047222 RCV005023291

NM_000091.5(COL4A3):c.794G>A (p.Gly265Glu)

SNV
Germline

Chr2:227254140

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350865912

rs_2069988351

1 SubmittersRCV002006505

NM_000091.5(COL4A3):c.3026G>C (p.Gly1009Ala)

SNV
Germline

Chr2:227290044

Conflicting classifications of pathogenicity

Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350855058

rs_1204230457

2 SubmittersRCV001910856 RCV005016756

NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys)

SNV
Germline

Chr2:227283850

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Benign familial hematuria

Criteria Provided
Conflicting Classifications

CA2147002

rs_761717909

2 SubmittersRCV001910076 RCV002490249

NM_000091.5(COL4A3):c.398G>T (p.Gly133Val)

SNV
Germline

Chr2:227246695

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146080

rs_750189238

2 SubmittersRCV001973662 RCV004785425

NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)

SNV
Germline

Chr2:227266473

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350870152

rs_757341933

3 SubmittersRCV001888088 RCV005005310

NM_000091.5(COL4A3):c.4265C>G (p.Ser1422Ter)

SNV
Germline

Chr2:227307722

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350864128

rs_2106283830

2 SubmittersRCV001916437 RCV005023435

NM_000091.5(COL4A3):c.274G>A (p.Val92Ile)

SNV
Germline

Chr2:227244359

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal dominant Alport syndrome

Criteria Provided
Conflicting Classifications

CA2145972

rs_200873401

3 SubmittersRCV002196495 RCV003089072 RCV003485767

NM_000091.5(COL4A3):c.2934A>T (p.Pro978=)

SNV
Germline

Chr2:227289202

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA431504901

rs_2106201680

2 SubmittersRCV002121926 RCV005017149

NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr)

SNV
Germline

Chr2:227248506

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2146185

rs_188324379

3 SubmittersRCV002091027 RCV003007086

NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter)

SNV
Germline

Chr2:227254124

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350865869

rs_2125934541

1 SubmittersRCV002222946

NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)

SNV
Germline

Chr2:227266993

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350870239

rs_2125982395

4 SubmittersRCV002225062 RCV003089194 RCV005002806

NM_000091.5(COL4A3):c.548G>T (p.Gly183Val)

SNV
Germline

Chr2:227251141

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350863681

rs_775544184

1 SubmittersRCV002244374

NM_000091.5(COL4A3):c.3337+1G>A

SNV
Germline

Chr2:227293318

Pathogenic

Alport syndrome 3b, autosomal recessive

Criteria Provided
Single Submitter

CA350858100

rs_1430568143

1 SubmittersRCV003333777

NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg)

SNV
Germline

Chr2:227273063

Conflicting classifications of pathogenicity

Autosomal recessive Alport syndrome
not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA350844968

rs_2125996501

3 SubmittersRCV002250951 RCV004587334 RCV005025739

NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter)

SNV
Germline

Chr2:227304105

Pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350862962

rs_2106271012

1 SubmittersRCV002251096

NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp)

SNV
Germline

Chr2:227256353

Likely pathogenic

Autosomal dominant Alport syndrome

No Assertion Criteria Provided

CA350867173

rs_1287109722

1 SubmittersRCV002466748

NM_000091.5(COL4A3):c.793G>A (p.Gly265Arg)

SNV
Germline

Chr2:227254139

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA66622047

rs_374787000

1 SubmittersRCV002267251

NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp)

SNV
Germline

Chr2:227280546

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Condition: not provided
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA350849250

rs_2106151987

3 SubmittersRCV002272123 RCV003560912 RCV005620441

NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)

SNV
Germline

Chr2:227266465

Conflicting classifications of pathogenicity

not specified
COL4A3-related disorder
Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA350870138

rs_2070897613

4 SubmittersRCV002282964 RCV003403775 RCV002511152 RCV005017183

NM_000091.5(COL4A3):c.2656+1G>T

SNV
Germline

Chr2:227282533

Likely pathogenic

Kidney disorder
Inborn genetic diseases
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350850917

rs_2469770966

3 SubmittersRCV002294671 RCV003382879 RCV005017190

NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter)

SNV
Unknown

Chr2:227307886

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350864466

rs_2469931914

1 SubmittersRCV002306478

NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter)

SNV
Unknown

Chr2:227305038

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA66618133

rs_772528863

1 SubmittersRCV002306570

NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter)

SNV
Unknown

Chr2:227279859

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350847815

rs_2469748132

1 SubmittersRCV002306766

NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter)

SNV
Unknown

Chr2:227270923

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350871916

rs_2469685114

1 SubmittersRCV002306789

NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter)

SNV
Unknown

Chr2:227259829

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350868309

rs_752030126

1 SubmittersRCV002309788

NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter)

SNV
Unknown

Chr2:227270839

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350871741

rs_2469683983

1 SubmittersRCV002309839

NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter)

SNV
Unknown

Chr2:227309051

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350865333

rs_2469937744

1 SubmittersRCV002308006

NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter)

SNV
Unknown

Chr2:227309273

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350865689

rs_2469939276

1 SubmittersRCV002308110

NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter)

SNV
Unknown

Chr2:227282478

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350850582

rs_2106164384

1 SubmittersRCV002308161

NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter)

SNV
Unknown

Chr2:227293272

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350857686

rs_2469850008

1 SubmittersRCV002308335

NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter)

SNV
Unknown

Chr2:227251369

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350864085

rs_2469545819

1 SubmittersRCV002309030

NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)

SNV
Unknown

Chr2:227279837

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350847647

rs_2469747787

1 SubmittersRCV002309225

NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)

SNV
Unknown

Chr2:227308995

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350865135

rs_2469937391

1 SubmittersRCV002309257

NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)

SNV
Unknown

Chr2:227305071

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350863960

rs_2469916694

1 SubmittersRCV002309486

NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)

SNV
Unknown

Chr2:227269912

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350871086

rs_2071139043

1 SubmittersRCV002307332

NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)

SNV
Unknown

Chr2:227289218

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350854384

rs_2469816176

1 SubmittersRCV002310246

NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)

SNV
Germline

Chr2:227245999

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350861702

rs_2469502863

1 SubmittersRCV002468830

NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)

SNV
Germline

Chr2:227273004

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350844849

rs_2469700028

1 SubmittersRCV002468831

NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)

SNV
Germline

Chr2:227282434

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350850338

rs_2469769803

1 SubmittersRCV002468832

NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)

SNV
Germline

Chr2:227283821

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350851290

rs_1174417447

1 SubmittersRCV002468833

NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)

SNV
Germline

Chr2:227284328

Likely pathogenic

Autosomal recessive Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350852485

rs_2106175500

2 SubmittersRCV002468834 RCV005025837

NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)

SNV
Germline

Chr2:227309232

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147608

rs_775823265

2 SubmittersRCV002469830

NM_000091.5(COL4A3):c.87+8G>C

SNV
Germline

Chr2:227164821

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2580065861

rs_1223507970

2 SubmittersRCV002475115

NM_000091.5(COL4A3):c.3752-2A>C

SNV
Germline

Chr2:227298680

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350860678

rs_2106250696

1 SubmittersRCV002508864

NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)

SNV
Germline

Chr2:227284258

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350851932

rs_1338508417

3 SubmittersRCV005323305 RCV003053015

NM_000091.5(COL4A3):c.4033C>T (p.Arg1345Cys)

SNV
Germline

Chr2:227304024

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147437

rs_369088928

2 SubmittersRCV003051176 RCV003076405

NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser)

SNV
Germline

Chr2:227280479

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146907

rs_770920210

3 SubmittersRCV005028161 RCV003068277 RCV004786812

NM_000091.5(COL4A3):c.1222C>T (p.Arg408Cys)

SNV
Germline

Chr2:227263851

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2146584

rs_756863324

2 SubmittersRCV003084109 RCV005323327

NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)

SNV
Germline

Chr2:227263936

Likely pathogenic

Condition: not provided
Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350869600

rs_1237274947

4 SubmittersRCV003087862 RCV004786830 RCV005019662

NM_000091.5(COL4A3):c.933+1G>A

SNV
Germline

Chr2:227256071

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA66625944

rs_932207890

1 SubmittersRCV003079040

NM_000091.5(COL4A3):c.1103G>A (p.Arg368His)

SNV
Germline

Chr2:227259866

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome

Criteria Provided
Conflicting Classifications

CA2146523

rs_748026747

2 SubmittersRCV003076100 RCV004786829

NM_000091.5(COL4A3):c.3059T>C (p.Met1020Thr)

SNV
Germline

Chr2:227290077

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2147086

rs_202071907

3 SubmittersRCV003097447 RCV005028239 RCV005323348

NM_000091.5(COL4A3):c.3609G>A (p.Pro1203=)

SNV
Germline

Chr2:227297717

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA66610387

rs_1045022382

2 SubmittersRCV003082306 RCV005028220

NM_000091.5(COL4A3):c.4171G>A (p.Gly1391Ser)

SNV
Germline

Chr2:227305002

Conflicting classifications of pathogenicity

Condition: not provided
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA350863725

rs_2106274329

3 SubmittersRCV003090309 RCV005028224

NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala)

SNV
Germline

Chr2:227245973

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350861652

rs_1408412826

2 SubmittersRCV002611793 RCV005028274

NM_000091.5(COL4A3):c.145-2A>G

SNV
Germline

Chr2:227240141

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350859022

rs_2469463138

1 SubmittersRCV002664285

NM_000091.5(COL4A3):c.998G>A (p.Gly333Glu)

SNV
Germline

Chr2:227257613

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350867496

rs_1057519376

1 SubmittersRCV002651617

NM_000091.5(COL4A3):c.2155T>C (p.Ser719Pro)

SNV
Germline

Chr2:227279822

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA2146877

rs_751113129

2 SubmittersRCV002651619 RCV005028326

NM_000091.5(COL4A3):c.2401G>A (p.Gly801Arg)

SNV
Germline

Chr2:227280919

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350849409

rs_867945364

1 SubmittersRCV002664286

NM_000091.5(COL4A3):c.4028-27A>G

SNV
Germline

Chr2:227303992

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA2580066019

rs_2469909789

1 SubmittersRCV002651621

NM_000091.5(COL4A3):c.692T>C (p.Val231Ala)

SNV
Germline

Chr2:227253565

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA2146321

rs_747868845

2 SubmittersRCV002648030 RCV005028316

NM_000091.5(COL4A3):c.3713C>G (p.Thr1238Arg)

SNV
Germline

Chr2:227297821

Conflicting classifications of pathogenicity

Condition: not provided
COL4A3-related disorder

Criteria Provided
Conflicting Classifications

CA2147330

rs_528758931

2 SubmittersRCV002640509 RCV003395623

NM_000091.5(COL4A3):c.275T>A (p.Val92Glu)

SNV
Germline

Chr2:227244360

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA2145973

rs_768404745

2 SubmittersRCV003117927 RCV005021797

NM_000091.5(COL4A3):c.4982G>C (p.Arg1661Pro)

SNV
Germline

Chr2:227311839

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350866817

rs_374158562

1 SubmittersRCV003111876

NM_000091.5(COL4A3):c.3071-1G>A

SNV
Germline

Chr2:227290746

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350855390

rs_2469828189

1 SubmittersRCV002593252

NM_000091.5(COL4A3):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:227164727

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350845866

rs_1396602090

1 SubmittersRCV002597219

NM_000091.5(COL4A3):c.3419-1G>C

SNV
Germline

Chr2:227294963

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350858662

rs_1358278568

1 SubmittersRCV002601291

NM_000091.5(COL4A3):c.272G>C (p.Gly91Ala)

SNV
Germline

Chr2:227244357

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350860672

rs_1414411811

1 SubmittersRCV002734770

NM_000091.5(COL4A3):c.248T>A (p.Leu83His)

SNV
Germline

Chr2:227244333

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2145965

rs_778209649

2 SubmittersRCV002800598 RCV004973643

NM_000091.5(COL4A3):c.4253-1G>A

SNV
Germline

Chr2:227307709

Likely pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350864100

rs_1268304692

2 SubmittersRCV002811690 RCV004786750

NM_000091.5(COL4A3):c.2020+1G>T

SNV
Germline

Chr2:227276478

Likely pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Single Submitter

CA350846526

rs_2469724141

2 SubmittersRCV002861958 RCV005616482

NM_000091.5(COL4A3):c.3338-1G>A

SNV
Germline

Chr2:227294489

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA350858470

rs_1344548642

3 SubmittersRCV002923841 RCV005028052

NM_000091.5(COL4A3):c.687+13C>T

SNV
Germline

Chr2:227253350

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA765684598

rs_1344117870

2 SubmittersRCV002929215 RCV005028060

NM_000091.5(COL4A3):c.2225G>A (p.Gly742Glu)

SNV
Germline

Chr2:227280441

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350848895

rs_2469753610

1 SubmittersRCV003008400

NM_000091.5(COL4A3):c.3419-2A>G

SNV
Germline

Chr2:227294962

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350858660

rs_867811322

1 SubmittersRCV003016983

NM_000091.5(COL4A3):c.3337+1G>T

SNV
Germline

Chr2:227293318

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350858104

rs_1430568143

1 SubmittersRCV003020998

NM_000091.5(COL4A3):c.3737C>G (p.Ser1246Ter)

SNV
Germline

Chr2:227297845

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350860517

rs_1400784100

3 SubmittersRCV003018607 RCV005028115 RCV005616526

NM_000091.5(COL4A3):c.1688G>A (p.Gly563Glu)

SNV
Germline

Chr2:227270882

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350871828

rs_2469684664

1 SubmittersRCV003042170

NM_000091.5(COL4A3):c.144+1G>C

SNV
Germline

Chr2:227238025

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350858436

rs_2469448258

1 SubmittersRCV003042901

NM_000091.5(COL4A3):c.524T>A (p.Leu175Ter)

SNV
Germline

Chr2:227248498

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350863603

rs_2469524371

1 SubmittersRCV003045256

NM_000091.5(COL4A3):c.4928+1G>T

SNV
Germline

Chr2:227310949

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350866692

rs_2073718422

1 SubmittersRCV003038280

NM_000091.5(COL4A3):c.2908G>T (p.Gly970Ter)

SNV
Germline

Chr2:227289176

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350854039

rs_2469815729

1 SubmittersRCV003035547

NM_000091.5(COL4A3):c.3088G>T (p.Gly1030Ter)

SNV
Germline

Chr2:227290764

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350855482

rs_2469828350

1 SubmittersRCV003047521

NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)

SNV
Germline

Chr2:227263846

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146583

rs_373952897

3 SubmittersRCV002679070 RCV003481433 RCV005028402

NM_000091.5(COL4A3):c.3722G>A (p.Arg1241His)

SNV
Germline

Chr2:227297830

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2147333

rs_201841428

3 SubmittersRCV002699392 RCV005028404 RCV005099111

NM_000091.5(COL4A3):c.419C>T (p.Thr140Ile)

SNV
Germline

Chr2:227246716

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146083

rs_555034953

3 SubmittersRCV002759528 RCV003778632 RCV005021777

NM_000091.5(COL4A3):c.610-1G>A

SNV
Germline

Chr2:227251335

Likely pathogenic

Autosomal recessive Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA350864011

rs_2469545357

2 SubmittersRCV003123358 RCV005029908

NM_000091.5(COL4A3):c.2275G>C (p.Gly759Arg)

SNV
Germline

Chr2:227280491

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350849081

rs_2071886531

1 SubmittersRCV003143639

NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)

SNV
Unknown

Chr2:227310832

Pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350866105

rs_1064796314

1 SubmittersRCV003153073

NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg)

SNV
Germline

Chr2:227284327

Likely pathogenic

Alport syndrome 3b, autosomal recessive

Criteria Provided
Single Submitter

CA2147041

rs_771818723

1 SubmittersRCV005623107

NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)

SNV
Germline

Chr2:227293192

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350857095

rs_765128550

1 SubmittersRCV003155601

NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)

SNV
Germline

Chr2:227280998

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350849713

rs_2469759941

1 SubmittersRCV003236658

NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu)

SNV
Germline

Chr2:227259860

Pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350868442

rs_2469607690

1 SubmittersRCV003236659

NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)

SNV
Germline

Chr2:227294972

Likely pathogenic

Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350858690

rs_1489682011

2 SubmittersRCV005029975 RCV005252148

NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp)

SNV
Germline

Chr2:227259850

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350868391

rs_1559875465

1 SubmittersRCV003314523

NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)

SNV
Germline

Chr2:227261117

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350868656

rs_2070534871

1 SubmittersRCV003324185

NM_000091.5(COL4A3):c.3956-1G>A

SNV
Germline

Chr2:227303858

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350862345

rs_2469908727

2 SubmittersRCV003328893

NM_000091.5(COL4A3):c.4307G>A (p.Gly1436Glu)

SNV
Germline

Chr2:227307764

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350864218

rs_1213637962

1 SubmittersRCV003332474

NM_000091.5(COL4A3):c.3928G>T (p.Gly1310Ter)

SNV
Germline

Chr2:227303083

Likely pathogenic

Alport syndrome 3b, autosomal recessive

No Assertion Criteria Provided

CA350862167

rs_2469904962

1 SubmittersRCV003389230

NM_000091.5(COL4A3):c.1495G>A (p.Gly499Arg)

SNV
Germline

Chr2:227267079

Likely pathogenic

COL4A3-related disorder

Criteria Provided
Single Submitter

CA350870410

rs_2469658167

1 SubmittersRCV003419002

NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg)

SNV
Germline

Chr2:227272967

Likely pathogenic

COL4A3-related disorder
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350844771

rs_2469699523

2 SubmittersRCV003421151 RCV005021957

NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)

SNV
Germline

Chr2:227282443

Conflicting classifications of pathogenicity

COL4A3-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350850392

rs_2469769923

2 SubmittersRCV003404692 RCV003689079

NM_000091.5(COL4A3):c.1060G>A (p.Gly354Arg)

SNV
Germline

Chr2:227259823

Likely pathogenic

COL4A3-related disorder

Criteria Provided
Single Submitter

CA350868284

rs_2469607308

1 SubmittersRCV003397581

NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)

SNV
Germline

Chr2:227282461

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
COL4A3-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350850484

rs_2469770082

3 SubmittersRCV004699173 RCV003408498 RCV003689084

NM_000091.5(COL4A3):c.1622G>A (p.Gly541Asp)

SNV
Germline

Chr2:227270816

Likely pathogenic

COL4A3-related disorder

Criteria Provided
Single Submitter

CA350871651

rs_1288801444

1 SubmittersRCV003404414

NM_000091.5(COL4A3):c.1985G>A (p.Gly662Glu)

SNV
Germline

Chr2:227276442

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA350846354

rs_2469723579

2 SubmittersRCV003441569

NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter)

SNV
Germline

Chr2:227259801

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

rs_2469606943

1 SubmittersRCV004577585

NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)

SNV
Germline

Chr2:227263903

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350869424

rs_2469634847

2 SubmittersRCV003553989 RCV004577586

NM_000091.5(COL4A3):c.4234G>C (p.Gly1412Arg)

SNV
Germline

Chr2:227305065

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350863941

rs_2469916631

1 SubmittersRCV003489344

NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)

SNV
Germline

Chr2:227284228

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

CA350851705

rs_1405970656

1 SubmittersRCV003486512

NM_000091.5(COL4A3):c.2657-6C>T

SNV
Germline

Chr2:227283761

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1332851102

rs_2072136807

3 SubmittersRCV003489762 RCV003779285

NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)

SNV
Germline

Chr2:227253306

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA350864798

rs_2069900248

2 SubmittersRCV003494543 RCV005030067

NM_000091.5(COL4A3):c.1252G>A (p.Gly418Arg)

SNV
Germline

Chr2:227263881

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350869316

rs_2469634498

2 SubmittersRCV005022012 RCV003545232

NM_000091.5(COL4A3):c.87+1G>A

SNV
Germline

Chr2:227164814

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350846321

rs_2065153902

1 SubmittersRCV003579579

NM_000091.5(COL4A3):c.1408+1G>C

SNV
Germline

Chr2:227266510

Pathogenic/Likely pathogenic

Condition: not provided
Alport syndrome
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA350870227

rs_1185847791

3 SubmittersRCV003579937 RCV004786959 RCV005030103

NM_000091.5(COL4A3):c.1391G>T (p.Gly464Val)

SNV
Germline

Chr2:227266492

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350870189

rs_2125981235

1 SubmittersRCV003555011

NM_000091.5(COL4A3):c.2980+1G>A

SNV
Germline

Chr2:227289249

Pathogenic/Likely pathogenic

Condition: not provided
Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350854578

rs_2469816514

2 SubmittersRCV003555016 RCV004786962

NM_000091.5(COL4A3):c.3955+2T>G

SNV
Germline

Chr2:227303112

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350862287

rs_1198975553

1 SubmittersRCV003570544

NM_000091.5(COL4A3):c.370G>T (p.Gly124Ter)

SNV
Germline

Chr2:227245999

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350861700

rs_2469502863

1 SubmittersRCV003570841

NM_000091.5(COL4A3):c.1759-1G>A

SNV
Germline

Chr2:227272948

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350844728

rs_2469699325

1 SubmittersRCV003571945

NM_000091.5(COL4A3):c.4918A>T (p.Arg1640Ter)

SNV
Germline

Chr2:227310938

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350866662

rs_2469946754

1 SubmittersRCV003569030

NM_000091.5(COL4A3):c.3565+1G>A

SNV
Germline

Chr2:227295317

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350859422

rs_2469866015

1 SubmittersRCV003571527

NM_000091.5(COL4A3):c.3883-1G>A

SNV
Germline

Chr2:227303037

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350861981

rs_2106267339

1 SubmittersRCV003568989

NM_000091.5(COL4A3):c.133A>T (p.Lys45Ter)

SNV
Germline

Chr2:227238013

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350858353

rs_2469448061

1 SubmittersRCV003578177

NM_000091.5(COL4A3):c.3071-1G>T

SNV
Germline

Chr2:227290746

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350855394

rs_2469828189

1 SubmittersRCV003573760

NM_000091.5(COL4A3):c.466A>T (p.Lys156Ter)

SNV
Germline

Chr2:227247582

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350863252

rs_2469517772

1 SubmittersRCV003565010

NM_000091.5(COL4A3):c.1114+1G>T

SNV
Germline

Chr2:227259878

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350868524

rs_1286895614

2 SubmittersRCV003662645 RCV005030149

NM_000091.5(COL4A3):c.1909G>C (p.Gly637Arg)

SNV
Germline

Chr2:227273099

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350845039

rs_761686437

1 SubmittersRCV003680224

NM_000091.5(COL4A3):c.2488+1G>T

SNV
Germline

Chr2:227281007

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350849778

rs_2469760075

1 SubmittersRCV003677485

NM_000091.5(COL4A3):c.829-2A>G

SNV
Germline

Chr2:227254654

Likely pathogenic

Condition: not provided
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350866112

rs_1553753119

2 SubmittersRCV003706739 RCV005254857

NM_000091.5(COL4A3):c.3491G>A (p.Gly1164Asp)

SNV
Germline

Chr2:227295036

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA350858929

rs_2469863799

3 SubmittersRCV003716726 RCV004690453 RCV005030189

NM_000091.5(COL4A3):c.610-1G>C

SNV
Germline

Chr2:227251335

Likely pathogenic

Alport syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350864013

rs_2469545357

2 SubmittersRCV004786996 RCV003693605

NM_000091.5(COL4A3):c.4450G>T (p.Gly1484Ter)

SNV
Germline

Chr2:227307907

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350864511

rs_976882559

1 SubmittersRCV003716503

NM_000091.5(COL4A3):c.4722G>A (p.Trp1574Ter)

SNV
Germline

Chr2:227309285

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350865745

rs_2469939374

1 SubmittersRCV003705647

NM_000091.5(COL4A3):c.3392G>A (p.Gly1131Asp)

SNV
Germline

Chr2:227294544

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA350858596

rs_2072937717

2 SubmittersRCV003720429

NM_000091.5(COL4A3):c.4483C>T (p.Gln1495Ter)

SNV
Germline

Chr2:227308919

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350864593

rs_2469936865

1 SubmittersRCV003729562

NM_000091.5(COL4A3):c.3418+1G>T

SNV
Germline

Chr2:227294571

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350858648

rs_2469859818

1 SubmittersRCV003734575

NM_000091.5(COL4A3):c.3150G>A (p.Gln1050=)

SNV
Germline

Chr2:227290826

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA66606678

rs_1032938979

2 SubmittersRCV003738766 RCV005014937

NM_000091.5(COL4A3):c.1345G>C (p.Gly449Arg)

SNV
Germline

Chr2:227266446

Conflicting classifications of pathogenicity

Condition: not provided
Hematuria, benign familial, 2
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146624

rs_760203599

2 SubmittersRCV003834322 RCV005030306

NM_000091.5(COL4A3):c.3606C>T (p.Leu1202=)

SNV
Germline

Chr2:227297714

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA431507181

rs_1186120881

2 SubmittersRCV003857504 RCV005030332

NM_000091.5(COL4A3):c.3455G>A (p.Gly1152Asp)

SNV
Germline

Chr2:227295000

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA66609010

rs_867868120

2 SubmittersRCV003863583 RCV005030336

NM_000091.5(COL4A3):c.1928-2A>G

SNV
Germline

Chr2:227276383

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350845988

rs_2469722765

1 SubmittersRCV003861598

NM_000091.5(COL4A3):c.4738G>T (p.Gly1580Ter)

SNV
Germline

Chr2:227309301

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA350865815

rs_2073646633

1 SubmittersRCV003864955

NM_000091.5(COL4A3):c.1150+5G>A

SNV
Germline

Chr2:227261122

Conflicting classifications of pathogenicity

Condition: not provided
Benign familial hematuria
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146565

rs_751399780

3 SubmittersRCV003862139 RCV005626872 RCV005030344

NM_000091.5(COL4A3):c.4929-2A>C

SNV
Germline

Chr2:227311784

Likely pathogenic

COL4A3-related disorder

No Assertion Criteria Provided

CA350866696

rs_2469950079

1 SubmittersRCV003941850

NM_000091.5(COL4A3):c.4108G>A (p.Gly1370Arg)

SNV
Germline

Chr2:227304099

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350862939

rs_1431769783

1 SubmittersRCV003984939

NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys)

SNV
Germline

Chr2:227303867

Likely pathogenic

Alport syndrome
Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2147412

rs_759739044

2 SubmittersRCV004787085 RCV003984949

NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg)

SNV
Germline

Chr2:227280518

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA350849191

rs_2469754387

2 SubmittersRCV003991169 RCV005015112

NM_000091.5(COL4A3):c.3383G>A (p.Gly1128Asp)

SNV
Germline

Chr2:227294535

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350858581

rs_2469859573

1 SubmittersRCV003991248

NM_000091.5(COL4A3):c.698G>T (p.Gly233Val)

SNV
Germline

Chr2:227253571

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350864898

rs_1453982069

1 SubmittersRCV003991283

NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu)

SNV
Germline

Chr2:227280902

Likely pathogenic

Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA350849372

rs_2469758704

2 SubmittersRCV003991284 RCV005030369

NM_000091.5(COL4A3):c.2666G>T (p.Gly889Val)

SNV
Germline

Chr2:227283776

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350851066

rs_2469779404

1 SubmittersRCV003991303

NM_000091.5(COL4A3):c.2746+1G>C

SNV
Germline

Chr2:227283857

Pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350851500

rs_1574786225

1 SubmittersRCV003991308

NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala)

SNV
Germline

Chr2:227257631

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350867566

rs_2469594055

1 SubmittersRCV003992012

NM_000091.5(COL4A3):c.1697G>A (p.Gly566Asp)

SNV
Germline

Chr2:227270891

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350871849

rs_2469684718

1 SubmittersRCV003992050

NM_000091.5(COL4A3):c.1787G>T (p.Gly596Val)

SNV
Germline

Chr2:227272977

Conflicting classifications of pathogenicity

Alport syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA350844796

rs_2469699666

2 SubmittersRCV003994660 RCV005545160

NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu)

SNV
Germline

Chr2:227270864

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA350871791

rs_2469684422

2 SubmittersRCV004437423 RCV005023531

NM_000091.5(COL4A3):c.2657-1G>A

SNV
Germline

Chr2:227283766

Conflicting classifications of pathogenicity

Inborn genetic diseases
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Conflicting Classifications

CA66600691

rs_373324875

2 SubmittersRCV004437424 RCV005023532

NM_000091.5(COL4A3):c.987+2T>G

SNV
Germline

Chr2:227256398

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA350867364

rs_2469586114

1 SubmittersRCV004437427

NM_000091.5(COL4A3):c.1523G>A (p.Gly508Asp)

SNV
Germline

Chr2:227269928

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

CA2146698

rs_757774756

2 SubmittersRCV004526431 RCV005015177

NM_000091.5(COL4A3):c.4289G>A (p.Gly1430Glu)

SNV
Germline

Chr2:227307746

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Collagen IV-related nephropathies

Criteria Provided
Conflicting Classifications

CA350864179

rs_774856700

2 SubmittersRCV004546875 RCV005235757

NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter)

SNV
Germline

Chr2:227307814

Pathogenic/Likely pathogenic

Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350864318

rs_2469931435

2 SubmittersRCV004545912 RCV005023567

NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu)

SNV
Germline

Chr2:227293255

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350857565

rs_1559909513

1 SubmittersRCV004545941

NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser)

SNV
Germline

Chr2:227294999

Likely pathogenic

Autosomal dominant Alport syndrome
Alport syndrome

Criteria Provided
Single Submitter

CA2147253

rs_749383170

2 SubmittersRCV004545952 RCV005618359

NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val)

SNV
Germline

Chr2:227263900

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350869415

rs_2469634805

1 SubmittersRCV004545959

NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg)

SNV
Germline

Chr2:227297850

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350860533

rs_2469880740

1 SubmittersRCV004545967

NM_000091.5(COL4A3):c.279+1G>C

SNV
Germline

Chr2:227244365

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350860722

rs_202001097

1 SubmittersRCV004555253

NM_000091.5(COL4A3):c.2657-1G>C

SNV
Germline

Chr2:227283766

Pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350851019

rs_373324875

1 SubmittersRCV004555298

NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu)

SNV
Germline

Chr2:227283803

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350851194

rs_2469779686

1 SubmittersRCV004555332

NM_000091.5(COL4A3):c.1373G>T (p.Gly458Val)

SNV
Germline

Chr2:227266474

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350870156

rs_2125981183

1 SubmittersRCV004555342

NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu)

SNV
Germline

Chr2:227284328

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

CA350852482

rs_2106175500

1 SubmittersRCV004555411

NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg)

SNV
Germline

Chr2:227305083

Likely pathogenic

Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA350864000

rs_2469916768

2 SubmittersRCV004555745 RCV005023570

NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg)

SNV
Germline

Chr2:227266500

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

rs_201088233

1 SubmittersRCV004556952

NM_000091.5(COL4A3):c.317G>T (p.Gly106Val)

SNV
Germline

Chr2:227244988

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

rs_1043352257

1 SubmittersRCV004556956

NM_000091.5(COL4A3):c.987G>A (p.Lys329=)

SNV
Germline

Chr2:227256396

Pathogenic

Autosomal dominant Alport syndrome
COL4A3-related disorder

Criteria Provided
Single Submitter

rs_754085928

2 SubmittersRCV004578011 RCV004723611

NM_000091.5(COL4A3):c.1526T>A (p.Leu509Ter)

SNV
Germline

Chr2:227269931

Pathogenic

Alport syndrome 3b, autosomal recessive

Criteria Provided
Single Submitter

rs_2469677416

1 SubmittersRCV004585215

NM_000091.5(COL4A3):c.317G>C (p.Gly106Ala)

SNV
Germline

Chr2:227244988

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
not specified

Criteria Provided
Conflicting Classifications

rs_1043352257

2 SubmittersRCV005015194 RCV004587901

NM_000091.5(COL4A3):c.2756G>T (p.Gly919Val)

SNV
Germline

Chr2:227284220

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_1445819062

2 SubmittersRCV004586096 RCV005023590

NM_000091.5(COL4A3):c.3892G>C (p.Gly1298Arg)

SNV
Germline

Chr2:227303047

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_2469904729

2 SubmittersRCV004586121 RCV005023591

NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys)

SNV
Germline

Chr2:227253305

Likely pathogenic

Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004598333 RCV005254924

NM_000091.5(COL4A3):c.3919G>A (p.Gly1307Ser)

SNV
Germline

Chr2:227303074

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004598338

NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val)

SNV
Germline

Chr2:227282479

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004598344

NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)

SNV
Germline

Chr2:227305030

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004598355

NM_000091.5(COL4A3):c.3947G>T (p.Gly1316Val)

SNV
Germline

Chr2:227303102

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004598388

NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)

SNV
Germline

Chr2:227303057

Likely pathogenic

Autosomal dominant Alport syndrome
Autosomal dominant Alport syndrome
Alport syndrome 3b, autosomal recessive
Hematuria, benign familial, 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004598396 RCV005023597

NM_000091.5(COL4A3):c.889-1G>A

SNV
Germline

Chr2:227256025

Pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004598500

NM_000091.5(COL4A3):c.3539G>A (p.Gly1180Asp)

SNV
Germline

Chr2:227295290

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004598531

NM_000091.5(COL4A3):c.1541G>C (p.Gly514Ala)

SNV
Germline

Chr2:227269946

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690580 RCV005017207

NM_000091.5(COL4A3):c.952G>A (p.Gly318Ser)

SNV
Germline

Chr2:227256361

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690799 RCV005023633

NM_000091.5(COL4A3):c.4190G>A (p.Gly1397Glu)

SNV
Germline

Chr2:227305021

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004691001 RCV005023637

NM_000091.5(COL4A3):c.443G>A (p.Gly148Asp)

SNV
Germline

Chr2:227247559

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004691002 RCV005017213

NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)

SNV
Germline

Chr2:227294570

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004698939

NM_000091.5(COL4A3):c.451G>T (p.Gly151Cys)

SNV
Unknown

Chr2:227247567

Likely pathogenic

Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV004699178

NM_000091.5(COL4A3):c.4207G>A (p.Gly1403Arg)

SNV
Germline

Chr2:227305038

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004700100 RCV005023651

NM_000091.5(COL4A3):c.3821G>A (p.Gly1274Asp)

SNV
Germline

Chr2:227298751

Conflicting classifications of pathogenicity

not specified
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701210 RCV005023654

NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)

SNV
Germline

Chr2:227273031

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004720721

NM_000091.5(COL4A3):c.3920G>A (p.Gly1307Asp)

SNV
Unknown

Chr2:227303075

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004759591

NM_000091.5(COL4A3):c.2962G>T (p.Gly988Ter)

SNV
Germline

Chr2:227289230

Likely pathogenic

Alport syndrome 3b, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV004764716

NM_000091.5(COL4A3):c.2074G>T (p.Gly692Cys)

SNV
Germline

Chr2:227277502

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004771885

NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)

SNV
Germline

Chr2:227256371

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004776352

NM_000091.5(COL4A3):c.4154G>A (p.Gly1385Glu)

SNV
Germline

Chr2:227304985

Likely pathogenic

Condition: not provided
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004776844 RCV005023707

NM_000091.5(COL4A3):c.1724G>A (p.Gly575Glu)

SNV
Germline

Chr2:227270918

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004781984

NM_000091.5(COL4A3):c.2294G>A (p.Gly765Glu)

SNV
Germline

Chr2:227280510

Likely pathogenic

Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788232

NM_000091.5(COL4A3):c.2470G>A (p.Gly824Arg)

SNV
Germline

Chr2:227280988

Likely pathogenic

Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788337

NM_000091.5(COL4A3):c.637G>C (p.Gly213Arg)

SNV
Germline

Chr2:227251363

Likely pathogenic

Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788441

NM_000091.5(COL4A3):c.619G>C (p.Gly207Arg)

SNV
Germline

Chr2:227251345

Likely pathogenic

Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788511

NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)

SNV
Germline

Chr2:227297791

Pathogenic/Likely pathogenic

Alport syndrome
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788644 RCV005023716

NM_000091.5(COL4A3):c.2657G>A (p.Gly886Asp)

SNV
Germline

Chr2:227283767

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004788650 RCV005105062

NM_000091.5(COL4A3):c.3283G>A (p.Gly1095Arg)

SNV
Germline

Chr2:227293263

Likely pathogenic

Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788653

NM_000091.5(COL4A3):c.689G>A (p.Gly230Asp)

SNV
Germline

Chr2:227253562

Pathogenic

Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004788657

NM_000091.5(COL4A3):c.2125G>T (p.Gly709Ter)

SNV
Germline

Chr2:227277553

Pathogenic

Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004789963

NM_000091.5(COL4A3):c.3655G>T (p.Gly1219Cys)

SNV
Germline

Chr2:227297763

Pathogenic

Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004789967

NM_000091.5(COL4A3):c.1927+1G>A

SNV
Germline

Chr2:227273118

Likely pathogenic

Alport syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV004789979

NM_000091.5(COL4A3):c.226G>A (p.Gly76Arg)

SNV
Germline

Chr2:227240224

Conflicting classifications of pathogenicity

Alport syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004790097 RCV005105068

NM_000091.5(COL4A3):c.1732G>C (p.Gly578Arg)

SNV
Germline

Chr2:227270926

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004791128

NM_000091.5(COL4A3):c.2374G>A (p.Gly792Arg)

SNV
Germline

Chr2:227280590

Pathogenic

Alport syndrome 3b, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV004813538

NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg)

SNV
Germline

Chr2:227290034

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005017331 RCV004978914

NM_000091.5(COL4A3):c.163G>A (p.Gly55Arg)

SNV
Germline

Chr2:227240161

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020791

NM_000091.5(COL4A3):c.172G>C (p.Gly58Arg)

SNV
Germline

Chr2:227240170

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020792

NM_000091.5(COL4A3):c.227G>T (p.Gly76Val)

SNV
Germline

Chr2:227240225

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020793

NM_000091.5(COL4A3):c.235-2A>T

SNV
Germline

Chr2:227244318

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024206

NM_000091.5(COL4A3):c.245G>T (p.Gly82Val)

SNV
Germline

Chr2:227244330

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024207

NM_000091.5(COL4A3):c.272G>T (p.Gly91Val)

SNV
Germline

Chr2:227244357

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020796

NM_000091.5(COL4A3):c.280-1G>A

SNV
Germline

Chr2:227244950

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020798

NM_000091.5(COL4A3):c.308G>A (p.Gly103Asp)

SNV
Germline

Chr2:227244979

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020800

NM_000091.5(COL4A3):c.415G>A (p.Gly139Arg)

SNV
Germline

Chr2:227246712

Pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020802

NM_000091.5(COL4A3):c.529G>A (p.Gly177Arg)

SNV
Germline

Chr2:227248503

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020804

NM_000091.5(COL4A3):c.539G>A (p.Gly180Glu)

SNV
Germline

Chr2:227248513

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024212

NM_000091.5(COL4A3):c.584G>T (p.Gly195Val)

SNV
Germline

Chr2:227251177

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024215

NM_000091.5(COL4A3):c.602G>A (p.Gly201Glu)

SNV
Germline

Chr2:227251195

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024216

NM_000091.5(COL4A3):c.766-2A>T

SNV
Germline

Chr2:227254110

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024220

NM_000091.5(COL4A3):c.802G>A (p.Gly268Ser)

SNV
Germline

Chr2:227254148

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024223

NM_000091.5(COL4A3):c.821G>A (p.Gly274Glu)

SNV
Germline

Chr2:227254167

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024224

NM_000091.5(COL4A3):c.829-1G>A

SNV
Germline

Chr2:227254655

Likely pathogenic

Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV005024225 RCV005622297

NM_000091.5(COL4A3):c.917G>T (p.Gly306Val)

SNV
Germline

Chr2:227256054

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024228

NM_000091.5(COL4A3):c.934G>A (p.Gly312Arg)

SNV
Germline

Chr2:227256343

Pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024229

NM_000091.5(COL4A3):c.943G>A (p.Gly315Ser)

SNV
Germline

Chr2:227256352

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024231

NM_000091.5(COL4A3):c.987+1G>T

SNV
Germline

Chr2:227256397

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024232

NM_000091.5(COL4A3):c.997G>C (p.Gly333Arg)

SNV
Germline

Chr2:227257612

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024234

NM_000091.5(COL4A3):c.1029+1G>C

SNV
Germline

Chr2:227257645

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024236

NM_000091.5(COL4A3):c.1114G>T (p.Gly372Cys)

SNV
Germline

Chr2:227259877

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020808

NM_000091.5(COL4A3):c.1151-1G>A

SNV
Germline

Chr2:227263779

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020809

NM_000091.5(COL4A3):c.1400G>A (p.Gly467Glu)

SNV
Germline

Chr2:227266501

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024243

NM_000091.5(COL4A3):c.1477G>A (p.Gly493Arg)

SNV
Germline

Chr2:227267061

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024244

NM_000091.5(COL4A3):c.1585G>C (p.Gly529Arg)

SNV
Germline

Chr2:227270779

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024247

NM_000091.5(COL4A3):c.1595G>A (p.Gly532Asp)

SNV
Germline

Chr2:227270789

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024248

NM_000091.5(COL4A3):c.1822G>C (p.Gly608Arg)

SNV
Germline

Chr2:227273012

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024249

NM_000091.5(COL4A3):c.1832G>T (p.Gly611Val)

SNV
Germline

Chr2:227273022

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024250

NM_000091.5(COL4A3):c.1892G>C (p.Gly631Ala)

SNV
Germline

Chr2:227273082

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020819

NM_000091.5(COL4A3):c.2008C>T (p.Gln670Ter)

SNV
Germline

Chr2:227276465

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020823

NM_000091.5(COL4A3):c.2011G>C (p.Gly671Arg)

SNV
Germline

Chr2:227276468

Conflicting classifications of pathogenicity

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024251 RCV005112773

NM_000091.5(COL4A3):c.2020+1G>A

SNV
Germline

Chr2:227276478

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020824

NM_000091.5(COL4A3):c.2030G>T (p.Gly677Val)

SNV
Germline

Chr2:227277458

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020825

NM_000091.5(COL4A3):c.2039G>A (p.Gly680Glu)

SNV
Germline

Chr2:227277467

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024252

NM_000091.5(COL4A3):c.2143G>A (p.Gly715Ser)

SNV
Germline

Chr2:227279810

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020829

NM_000091.5(COL4A3):c.2188G>A (p.Gly730Arg)

SNV
Germline

Chr2:227279855

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020830

NM_000091.5(COL4A3):c.2257G>C (p.Gly753Arg)

SNV
Germline

Chr2:227280473

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024255

NM_000091.5(COL4A3):c.2267G>C (p.Gly756Ala)

SNV
Germline

Chr2:227280483

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020831

NM_000091.5(COL4A3):c.2347G>C (p.Gly783Arg)

SNV
Germline

Chr2:227280563

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020834

NM_000091.5(COL4A3):c.2392G>A (p.Gly798Arg)

SNV
Germline

Chr2:227280910

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020835

NM_000091.5(COL4A3):c.2507G>T (p.Gly836Val)

SNV
Germline

Chr2:227282383

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020836

NM_000091.5(COL4A3):c.2629G>A (p.Gly877Arg)

SNV
Germline

Chr2:227282505

Conflicting classifications of pathogenicity

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024260 RCV005112775

NM_000091.5(COL4A3):c.2765G>A (p.Gly922Glu)

SNV
Germline

Chr2:227284229

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024261

NM_000091.5(COL4A3):c.2945G>A (p.Gly982Asp)

SNV
Germline

Chr2:227289213

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020842

NM_000091.5(COL4A3):c.2954G>A (p.Gly985Glu)

SNV
Germline

Chr2:227289222

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020844

NM_000091.5(COL4A3):c.2962G>C (p.Gly988Arg)

SNV
Germline

Chr2:227289230

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024264

NM_000091.5(COL4A3):c.2980+2T>G

SNV
Germline

Chr2:227289250

Pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020845

NM_000091.5(COL4A3):c.3007G>A (p.Gly1003Arg)

SNV
Germline

Chr2:227290025

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020848

NM_000091.5(COL4A3):c.3035G>A (p.Gly1012Asp)

SNV
Germline

Chr2:227290053

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020849

NM_000091.5(COL4A3):c.3061G>A (p.Gly1021Ser)

SNV
Germline

Chr2:227290079

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020850

NM_000091.5(COL4A3):c.3071-2A>G

SNV
Germline

Chr2:227290745

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024267

NM_000091.5(COL4A3):c.3079G>A (p.Gly1027Arg)

SNV
Germline

Chr2:227290755

Conflicting classifications of pathogenicity

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024268 RCV005112776

NM_000091.5(COL4A3):c.3097G>A (p.Gly1033Arg)

SNV
Germline

Chr2:227290773

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024269

NM_000091.5(COL4A3):c.3106G>A (p.Gly1036Ser)

SNV
Germline

Chr2:227290782

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020852

NM_000091.5(COL4A3):c.3133G>C (p.Gly1045Arg)

SNV
Germline

Chr2:227290809

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020854

NM_000091.5(COL4A3):c.3203G>A (p.Gly1068Glu)

SNV
Germline

Chr2:227290879

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020858

NM_000091.5(COL4A3):c.3211-1G>T

SNV
Germline

Chr2:227293190

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005020860

NM_000091.5(COL4A3):c.3248G>A (p.Gly1083Glu)

SNV
Germline

Chr2:227293228

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024271

NM_000091.5(COL4A3):c.3256G>A (p.Gly1086Arg)

SNV
Germline

Chr2:227293236

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024274

NM_000091.5(COL4A3):c.3310G>C (p.Gly1104Arg)

SNV
Germline

Chr2:227293290

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024276

NM_000091.5(COL4A3):c.3311G>C (p.Gly1104Ala)

SNV
Germline

Chr2:227293291

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024277

NM_000091.5(COL4A3):c.3409G>A (p.Gly1137Ser)

SNV
Germline

Chr2:227294561

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024283

NM_000091.5(COL4A3):c.3409G>C (p.Gly1137Arg)

SNV
Germline

Chr2:227294561

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024284

NM_000091.5(COL4A3):c.3418G>T (p.Gly1140Cys)

SNV
Germline

Chr2:227294570

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024285

NM_000091.5(COL4A3):c.3419-2A>C

SNV
Germline

Chr2:227294962

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024286

NM_000091.5(COL4A3):c.3517+1G>T

SNV
Germline

Chr2:227295063

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024289

NM_000091.5(COL4A3):c.3620G>T (p.Gly1207Val)

SNV
Germline

Chr2:227297728

Pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024295

NM_000091.5(COL4A3):c.3674G>A (p.Gly1225Glu)

SNV
Germline

Chr2:227297782

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024296

NM_000091.5(COL4A3):c.3682G>A (p.Gly1228Ser)

SNV
Germline

Chr2:227297790

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024297

NM_000091.5(COL4A3):c.3839G>A (p.Gly1280Asp)

SNV
Germline

Chr2:227298769

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024301

NM_000091.5(COL4A3):c.3856G>A (p.Gly1286Arg)

SNV
Germline

Chr2:227298786

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024303

NM_000091.5(COL4A3):c.3875G>C (p.Gly1292Ala)

SNV
Germline

Chr2:227298805

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024304

NM_000091.5(COL4A3):c.3882+5G>C

SNV
Germline

Chr2:227298817

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024305

NM_000091.5(COL4A3):c.3965G>A (p.Gly1322Asp)

SNV
Germline

Chr2:227303868

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024306

NM_000091.5(COL4A3):c.4009G>A (p.Gly1337Arg)

SNV
Germline

Chr2:227303912

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024307

NM_000091.5(COL4A3):c.4028-2A>C

SNV
Germline

Chr2:227304017

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024309

NM_000091.5(COL4A3):c.4028-2A>G

SNV
Germline

Chr2:227304017

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024310

NM_000091.5(COL4A3):c.4289G>T (p.Gly1430Val)

SNV
Germline

Chr2:227307746

Likely pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024314

NM_000091.5(COL4A3):c.4847G>A (p.Cys1616Tyr)

SNV
Germline

Chr2:227310867

Pathogenic

Alport syndrome 3b, autosomal recessive
Autosomal dominant Alport syndrome
Hematuria, benign familial, 2

Criteria Provided
Single Submitter

1 SubmittersRCV005024329

NM_000091.5(COL4A3):c.1408+2T>A

SNV
Unknown

Chr2:227266511

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005002110

NM_000091.5(COL4A3):c.236G>A (p.Gly79Asp)

SNV
Germline

Chr2:227244321

Conflicting classifications of pathogenicity

Autosomal dominant Alport syndrome
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005065373 RCV005417495

NM_000091.5(COL4A3):c.4027+1G>C

SNV
Germline

Chr2:227303931

Likely pathogenic

Autosomal recessive Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005088635

NM_000091.5(COL4A3):c.1154C>G (p.Ser385Ter)

SNV
Germline

Chr2:227263783

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005121332

NM_000091.5(COL4A3):c.442-2A>G

SNV
Germline

Chr2:227247556

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005115762

NM_000091.5(COL4A3):c.1505-2A>G

SNV
Germline

Chr2:227269908

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005121600

NM_000091.5(COL4A3):c.1115-1G>A

SNV
Germline

Chr2:227261081

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005134709

NM_000091.5(COL4A3):c.1408+1G>T

SNV
Germline

Chr2:227266510

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive Alport syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005160952 RCV005407394

NM_000091.5(COL4A3):c.1315+1G>A

SNV
Germline

Chr2:227263945

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005180413

NM_000091.5(COL4A3):c.2719G>T (p.Gly907Trp)

SNV
Germline

Chr2:227283829

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005230900

NM_000091.5(COL4A3):c.289G>A (p.Gly97Arg)

SNV
Germline

Chr2:227244960

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005230905

NM_000091.5(COL4A3):c.3025G>C (p.Gly1009Arg)

SNV
Germline

Chr2:227290043

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005251580

NM_000091.5(COL4A3):c.3760G>C (p.Gly1254Arg)

SNV
Germline

Chr2:227298690

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV005317234

NM_000091.5(COL4A3):c.2656+1G>C

SNV
Germline

Chr2:227282533

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV005317241

NM_000091.5(COL4A3):c.687+1G>A

SNV
Germline

Chr2:227253338

Pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005403781

NM_000091.5(COL4A3):c.3089G>A (p.Gly1030Glu)

SNV
Germline

Chr2:227290765

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005432248

NM_000091.5(COL4A3):c.3566-2A>T

SNV
Germline

Chr2:227297672

Likely pathogenic

Alport syndrome

No Assertion Criteria Provided

1 SubmittersRCV005615256

NM_000091.5(COL4A3):c.1504+2T>C

SNV
Germline

Chr2:227267090

Likely pathogenic

Alport syndrome

No Assertion Criteria Provided

1 SubmittersRCV005615261

NM_000091.5(COL4A3):c.1994G>A (p.Gly665Asp)

SNV
Germline

Chr2:227276451

Likely pathogenic

Alport syndrome

No Assertion Criteria Provided

1 SubmittersRCV005615288

NM_000091.5(COL4A3):c.4929-2A>G

SNV
Germline

Chr2:227311784

Likely pathogenic

Alport syndrome

No Assertion Criteria Provided

1 SubmittersRCV005615289

NM_000091.5(COL4A3):c.2710G>A (p.Gly904Arg)

SNV
Germline

Chr2:227283820

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005622624

NM_000091.5(COL4A3):c.1459G>C (p.Gly487Arg)

SNV
Germline

Chr2:227267043

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005623137

NM_000091.5(COL4A3):c.2575G>C (p.Gly859Arg)

SNV
Germline

Chr2:227282451

Likely pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005623143

NM_000091.5(COL4A3):c.4253-1G>C

SNV
Germline

Chr2:227307709

Pathogenic

Autosomal dominant Alport syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005623163