Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_181458.4(PAX3):c.149C>T (p.Pro50Leu)	SNV Germline	Chr2:222297150	Pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA253048	rs_104893650	2 SubmittersRCV000004426 RCV006461092
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)	SNV Germline	Chr2:222297057	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided Monogenic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA253049	rs_587776586	4 SubmittersRCV000004430 RCV002512755 RCV006738124
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)	SNV Germline	Chr2:222297048	Pathogenic	Waardenburg syndrome type 3 Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116691	rs_104893651	6 SubmittersRCV000004432 RCV000004433 RCV003555913
NM_181458.4(PAX3):c.141C>G (p.Asn47Lys)	SNV Germline	Chr2:222297158	Likely pathogenic	Craniofacial-deafness-hand syndrome Condition: not provided Waardenburg syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA116692	rs_104893652	3 SubmittersRCV000004434 RCV003229799 RCV006741964
NM_181458.4(PAX3):c.139A>C (p.Asn47His)	SNV Germline	Chr2:222297160	Pathogenic	Waardenburg syndrome type 3	No Assertion Criteria Provided	CA116693	rs_104893653	1 SubmittersRCV000004435
NM_181458.4(PAX3):c.268T>C (p.Tyr90His)	SNV Germline	Chr2:222297031	Pathogenic	Waardenburg syndrome type 3	No Assertion Criteria Provided	CA116694	rs_104893654	1 SubmittersRCV000004437
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)	SNV Germline	Chr2:222297132	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Waardenburg syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253050	rs_267606931	3 SubmittersRCV000004438 RCV001375270 RCV002274876
NM_181458.4(PAX3):c.238C>G (p.His80Asp)	SNV Germline	Chr2:222297061	Pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided	CA259837	rs_387906947	1 SubmittersRCV000023560
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)	SNV Germline	Chr2:222297058	Conflicting classifications of pathogenicity	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA269911	rs_483353059	3 SubmittersRCV000119819 RCV001854589
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	SNV Germline	Chr2:222221236	Conflicting classifications of pathogenicity	Congenital diaphragmatic hernia not specified Waardenburg syndrome Craniofacial-deafness-hand syndrome Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA339658	rs_2234675	9 SubmittersRCV000203286 RCV000213796 RCV000293967 RCV000348942 RCV000626405 RCV000992502
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)	SNV Germline	Chr2:222220310	Conflicting classifications of pathogenicity	not specified Craniofacial-deafness-hand syndrome Waardenburg syndrome Condition: not provided Usher syndrome	Criteria Provided Conflicting Classifications	CA2135519	rs_151199924	4 SubmittersRCV000222451 RCV000329028 RCV000383564 RCV000915585 RCV003389463
NM_181458.4(PAX3):c.668G>A (p.Arg223Gln)	SNV Germline	Chr2:222232202	Pathogenic	Rare genetic deafness Waardenburg syndrome Condition: not provided Waardenburg syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA10576591	rs_876657717	5 SubmittersRCV000216335 RCV001092432 RCV005051764
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr)	SNV Germline	Chr2:222294181	Conflicting classifications of pathogenicity	not specified Condition: not provided PAX3-related disorder	Criteria Provided Conflicting Classifications	CA2135689	rs_199560470	4 SubmittersRCV000214708 RCV000923984 RCV003955276
NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)	SNV Germline	Chr2:222295564	Pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided	CA10581222	rs_876661317	1 SubmittersRCV000223708
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)	SNV Germline	Chr2:222232086	Pathogenic	Condition: not provided Waardenburg syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA10602851	rs_886041319	6 SubmittersRCV000315662 RCV000660215
NM_181458.4(PAX3):c.812G>A (p.Arg271His)	SNV Germline	Chr2:222221368	Pathogenic	Condition: not provided Waardenburg syndrome type 1 Waardenburg syndrome type 3 Waardenburg syndrome type 1 Alveolar rhabdomyosarcoma Craniofacial-deafness-hand syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2135564	rs_774528745	6 SubmittersRCV000372931 RCV000660219 RCV002500967
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)	SNV Germline	Chr2:222220195	Conflicting classifications of pathogenicity	Craniofacial-deafness-hand syndrome Waardenburg syndrome Condition: not provided not specified Hearing impairment	Criteria Provided Conflicting Classifications	CA2135497	rs_200701839	5 SubmittersRCV000288552 RCV000382870 RCV001545472 RCV001195199 RCV001375455
NM_181458.4(PAX3):c.602C>G (p.Ser201Ter)	SNV Germline	Chr2:222232268	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16604154	rs_1057524511	1 SubmittersRCV000439995
NM_181458.4(PAX3):c.790C>T (p.Gln264Ter)	SNV Germline	Chr2:222232080	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351112120	rs_1553575159	1 SubmittersRCV000626394
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)	SNV Germline	Chr2:222297157	Likely pathogenic	Waardenburg syndrome type 1 Waardenburg syndrome type 3	Criteria Provided Multiple Submitters No Conflicts	CA351113735	rs_1419548558	2 SubmittersRCV000626390 RCV002294350
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)	SNV Germline	Chr2:222297157	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351113733	rs_1419548558	4 SubmittersRCV000626396 RCV001853832
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)	SNV Germline	Chr2:222297175	Likely pathogenic	Waardenburg syndrome type 1 Intellectual disability Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351113772	rs_773327091	5 SubmittersRCV000626392 RCV001526650 RCV001859999
NM_181458.4(PAX3):c.583C>T (p.Arg195Ter)	SNV Germline	Chr2:222294170	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351112470	rs_1220219700	2 SubmittersRCV000579086
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)	SNV Germline	Chr2:222232203	Pathogenic	Condition: not provided Waardenburg syndrome type 1 Waardenburg syndrome type 3 Monogenic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA2135602	rs_772241382	12 SubmittersRCV000599259 RCV001290145 RCV001335583 RCV006709029
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)	SNV Germline	Chr2:222294213	Conflicting classifications of pathogenicity	not specified Waardenburg syndrome type 1 Craniofacial-deafness-hand syndrome Waardenburg syndrome type 3 Alveolar rhabdomyosarcoma Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2135703	rs_200679164	4 SubmittersRCV000601148 RCV000765615 RCV003718260 RCV004024887
NM_181458.4(PAX3):c.1116T>A (p.Pro372=)	SNV Germline	Chr2:222220197	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2135498	rs_770424826	3 SubmittersRCV000606561 RCV005056268
NM_181458.4(PAX3):c.958+9G>A	SNV Germline	Chr2:222221213	Conflicting classifications of pathogenicity	not specified Waardenburg syndrome Craniofacial-deafness-hand syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2135544	rs_185119406	3 SubmittersRCV000603902 RCV001136878 RCV001136877 RCV002065193
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)	SNV Germline	Chr2:222294173	Conflicting classifications of pathogenicity	not specified Craniofacial-deafness-hand syndrome Alveolar rhabdomyosarcoma Waardenburg syndrome type 3 Waardenburg syndrome type 1 Waardenburg syndrome Craniofacial-deafness-hand syndrome Condition: not provided Waardenburg syndrome type 1	Criteria Provided Conflicting Classifications	CA2135687	rs_148454691	8 SubmittersRCV000606544 RCV000765614 RCV001139117 RCV001139116 RCV001770539 RCV004821284
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)	SNV Germline	Chr2:222202134	Pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided	CA351115813	rs_147111779	1 SubmittersRCV000721952
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe)	SNV Germline	Chr2:222297043	Likely pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided	CA351113485	rs_1559320299	1 SubmittersRCV000721953
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)	SNV Germline	Chr2:222202087	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351115724	rs_369886550	2 SubmittersRCV000660223 RCV006463822
NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)	SNV Germline	Chr2:222220292	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351116278	rs_1553572740	1 SubmittersRCV000660222
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)	SNV Germline	Chr2:222221369	Pathogenic	Waardenburg syndrome type 1 Condition: not provided Waardenburg syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA351116731	rs_1380858784	7 SubmittersRCV000660218 RCV001861717 RCV004808837 RCV006367213
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)	SNV Germline	Chr2:222221372	Pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351116737	rs_1228590199	4 SubmittersRCV000660217 RCV002222584
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)	SNV Germline	Chr2:222232079	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351112117	rs_1553575157	1 SubmittersRCV000660216
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro)	SNV Germline	Chr2:222232178	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351112519	rs_1553575191	1 SubmittersRCV000660213
NM_181458.4(PAX3):c.452-9C>A	SNV Germline	Chr2:222294310	Conflicting classifications of pathogenicity	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA658821475	rs_1379006499	3 SubmittersRCV000660208 RCV001861716
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys)	SNV Germline	Chr2:222297030	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351113457	rs_1553593874	1 SubmittersRCV000660206
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)	SNV Germline	Chr2:222297053	Likely pathogenic	Waardenburg syndrome type 3 Rare genetic deafness Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351113508	rs_777297575	3 SubmittersRCV000660204 RCV000826182 RCV002263924
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter)	SNV Germline	Chr2:222297053	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351113507	rs_777297575	1 SubmittersRCV000660205
NM_181458.4(PAX3):c.232G>T (p.Val78Leu)	SNV Germline	Chr2:222297067	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351113534	rs_1553593917	1 SubmittersRCV000660203
NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)	SNV Germline	Chr2:222297081	Pathogenic	Waardenburg syndrome type 1 Waardenburg syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351113563	rs_1553593928	2 SubmittersRCV000660201 RCV004794431
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)	SNV Germline	Chr2:222297089	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided PAX3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA351113581	rs_1356246522	5 SubmittersRCV000660200 RCV002530563 RCV004731007
NM_181458.4(PAX3):c.86-2A>G	SNV Germline	Chr2:222297215	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351113854	rs_1553594069	2 SubmittersRCV000660198 RCV001861715
NM_181458.4(PAX3):c.821G>A (p.Trp274Ter)	SNV Germline	Chr2:222221359	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351116713	rs_1559264524	1 SubmittersRCV000760344
NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter)	SNV Germline	Chr2:222220147	Pathogenic	Rare genetic deafness	Criteria Provided Single Submitter	CA351115964	rs_758136826	1 SubmittersRCV000825626
NM_181458.4(PAX3):c.1248C>T (p.Thr416=)	SNV Germline	Chr2:222202116	Conflicting classifications of pathogenicity	Condition: not provided Waardenburg syndrome Craniofacial-deafness-hand syndrome	Criteria Provided Conflicting Classifications	CA2135455	rs_376147620	2 SubmittersRCV000919846 RCV001139013 RCV001141621
NM_181458.4(PAX3):c.1029G>A (p.Thr343=)	SNV Germline	Chr2:222220284	Conflicting classifications of pathogenicity	Condition: not provided Craniofacial-deafness-hand syndrome Waardenburg syndrome	Criteria Provided Conflicting Classifications	CA2135514	rs_747502205	2 SubmittersRCV000915421 RCV001143437 RCV001143438
NM_181458.4(PAX3):c.239A>G (p.His80Arg)	SNV Unknown	Chr2:222297060	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351113520	rs_1574771535	1 SubmittersRCV000987040
NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)	SNV Germline	Chr2:222297172	Pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided	CA351113766	rs_1574772091	1 SubmittersRCV001027516
NM_181458.4(PAX3):c.981C>T (p.Thr327=)	SNV Germline	Chr2:222220332	Conflicting classifications of pathogenicity	Craniofacial-deafness-hand syndrome Waardenburg syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2135523	rs_374429328	2 SubmittersRCV001136875 RCV001136876 RCV002070596
NM_181458.4(PAX3):c.567C>T (p.Asp189=)	SNV Germline	Chr2:222294186	Conflicting classifications of pathogenicity	Craniofacial-deafness-hand syndrome Waardenburg syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2135691	rs_774455796	3 SubmittersRCV001141725 RCV001139118 RCV004694860 RCV006688849
NM_181458.4(PAX3):c.290G>C (p.Arg97Pro)	SNV Germline	Chr2:222297009	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113409	rs_1695335992	1 SubmittersRCV001171823
NM_181458.4(PAX3):c.715G>T (p.Glu239Ter)	SNV Germline	Chr2:222232155	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351112418	rs_1692621563	1 SubmittersRCV001200642
NM_181458.4(PAX3):c.242G>A (p.Gly81Asp)	SNV Germline	Chr2:222297057	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113515	rs_587776586	1 SubmittersRCV001237226
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)	SNV Germline	Chr2:222297029	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Intellectual disability Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351113454	rs_1695336858	2 SubmittersRCV001253125 RCV001255326 RCV003222277
NM_181458.4(PAX3):c.530C>G (p.Ala177Gly)	SNV Germline	Chr2:222294223	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351112715	rs_200517998	1 SubmittersRCV001281643
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)	SNV Germline	Chr2:222232115	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351112229	rs_1692619812	1 SubmittersRCV001290148
NM_181458.4(PAX3):c.706C>A (p.Arg236Ser)	SNV Germline	Chr2:222232164	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA2135599	rs_769650688	1 SubmittersRCV001290147
NM_181458.4(PAX3):c.671C>T (p.Thr224Ile)	SNV Germline	Chr2:222232199	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351112603	rs_1692623308	1 SubmittersRCV001290146
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg)	SNV Germline	Chr2:222297058	Pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2135792	rs_483353059	2 SubmittersRCV001290143 RCV005094345
NM_181458.4(PAX3):c.*175C>T	SNV Germline	Chr2:222201233	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351115219	rs_780660984	1 SubmittersRCV001353097
NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)	SNV Unknown	Chr2:222221351	Pathogenic	Waardenburg syndrome type 3	Criteria Provided Single Submitter	CA351116690	rs_2106074565	1 SubmittersRCV001375039
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)	SNV Germline	Chr2:222297133	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351113682	rs_1279989885	1 SubmittersRCV001375038
NM_181458.4(PAX3):c.955C>T (p.Gln319Ter)	SNV Germline	Chr2:222221225	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351116428	rs_2106074168	1 SubmittersRCV001531348
NM_181458.4(PAX3):c.233T>A (p.Val78Glu)	SNV Germline	Chr2:222297066	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113533	rs_2106203794	1 SubmittersRCV001558191
NM_181458.4(PAX3):c.586+2T>A	SNV Germline	Chr2:222294165	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351112455	rs_2106196576	1 SubmittersRCV001729953
NM_181458.4(PAX3):c.281G>T (p.Gly94Val)	SNV Germline	Chr2:222297018	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351113426	rs_2106203654	1 SubmittersRCV001729951
NM_181458.4(PAX3):c.202C>T (p.Arg68Trp)	SNV Germline	Chr2:222297097	Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351113597	rs_2106203892	2 SubmittersRCV001728007 RCV003660898
NM_181458.4(PAX3):c.255G>C (p.Lys85Asn)	SNV Germline	Chr2:222297044	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113489	rs_2106203729	1 SubmittersRCV002048715
NM_181458.4(PAX3):c.184A>G (p.Met62Val)	SNV Germline	Chr2:222297115	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113641	rs_2106203978	1 SubmittersRCV001956357
NM_181458.4(PAX3):c.118C>T (p.Gln40Ter)	SNV Germline	Chr2:222297181	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113785	rs_1461573611	1 SubmittersRCV001935842
NM_181458.4(PAX3):c.809G>C (p.Arg270Pro)	SNV Germline	Chr2:222221371	Likely pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided	CA351116735	rs_2106074603	1 SubmittersRCV002223101
NM_181458.4(PAX3):c.713T>C (p.Phe238Ser)	SNV Germline	Chr2:222232157	Pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided	CA351112430	rs_2106095147	1 SubmittersRCV002246165
NM_181458.4(PAX3):c.792+2T>C	SNV Germline	Chr2:222232076	Pathogenic	Craniofacial-deafness-hand syndrome	Criteria Provided Single Submitter	CA351112100	rs_2106094950	1 SubmittersRCV002250172
NM_181458.4(PAX3):c.450A>G (p.Ser150=)	SNV Germline	Chr2:222295529	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA431575793	rs_2469478626	1 SubmittersRCV002281378
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)	SNV Germline	Chr2:222232182	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351112539	rs_2469285416	1 SubmittersRCV002287291
NM_181458.4(PAX3):c.797G>A (p.Trp266Ter)	SNV Germline	Chr2:222221383	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351116769	rs_2469252734	1 SubmittersRCV002306070
NM_181458.4(PAX3):c.451+1G>A	SNV Germline	Chr2:222295527	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113031	rs_2469478619	1 SubmittersRCV002651611
NM_181458.4(PAX3):c.668G>T (p.Arg223Leu)	SNV Germline	Chr2:222232202	Pathogenic/Likely pathogenic	Condition: not provided PAX3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA351112613	rs_876657717	2 SubmittersRCV002791941 RCV003409933
NM_181458.4(PAX3):c.218C>G (p.Ser73Trp)	SNV Germline	Chr2:222297081	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113564	rs_1553593928	1 SubmittersRCV002872118
NM_181458.4(PAX3):c.139A>G (p.Asn47Asp)	SNV Germline	Chr2:222297160	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113741	rs_104893653	1 SubmittersRCV002937246
NM_181458.4(PAX3):c.1213C>T (p.Gln405Ter)	SNV Germline	Chr2:222202151	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351115852	rs_2469197157	1 SubmittersRCV003035449
NM_181458.4(PAX3):c.238C>T (p.His80Tyr)	SNV Germline	Chr2:222297061	Conflicting classifications of pathogenicity	Condition: not provided Waardenburg syndrome type 1	Criteria Provided Conflicting Classifications	CA351113523	rs_387906947	2 SubmittersRCV003037060 RCV003493976
NM_181458.4(PAX3):c.586G>A (p.Ala196Thr)	SNV Germline	Chr2:222294167	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351112463	rs_2469471076	1 SubmittersRCV003223894
NM_181458.4(PAX3):c.793G>T (p.Val265Phe)	SNV Germline	Chr2:222221387	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351116776	rs_1210072810	1 SubmittersRCV003318289
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)	SNV Germline	Chr2:222232268	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351112907	rs_1057524511	1 SubmittersRCV003327322
NM_181458.4(PAX3):c.994C>T (p.Gln332Ter)	SNV Germline	Chr2:222220319	Likely pathogenic	PAX3-related disorder	Criteria Provided Single Submitter	CA351116331	rs_2469249189	1 SubmittersRCV003408413
NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)	SNV Germline	Chr2:222295546	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter	CA351113069	rs_1695251013	1 SubmittersRCV003445432
NM_181458.4(PAX3):c.809G>A (p.Arg270His)	SNV Germline	Chr2:222221371	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA351116736	rs_2106074603	2 SubmittersRCV003448549
NM_181458.4(PAX3):c.490A>T (p.Lys164Ter)	SNV Germline	Chr2:222294263	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351112897	rs_2469471849	1 SubmittersRCV003547977
NM_181458.4(PAX3):c.322-2A>G	SNV Germline	Chr2:222295659	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113336	rs_2469479413	1 SubmittersRCV003547711
NM_181458.4(PAX3):c.1174-2A>G	SNV Germline	Chr2:222202192	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351115940	rs_2469197395	1 SubmittersRCV003563112
NM_181458.4(PAX3):c.127G>A (p.Gly43Ser)	SNV Germline	Chr2:222297172	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113768	rs_1574772091	1 SubmittersRCV003569376
NM_181458.4(PAX3):c.266G>C (p.Arg89Thr)	SNV Germline	Chr2:222297033	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351113465	rs_2469486031	1 SubmittersRCV003564914
NM_181458.4(PAX3):c.936C>G (p.Tyr312Ter)	SNV Germline	Chr2:222221244	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA351116464	rs_2469252164	1 SubmittersRCV003711152
NM_181458.4(PAX3):c.1375A>C (p.Ser459Arg)	SNV Germline	Chr2:222201989	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2135435	rs_776059693	2 SubmittersRCV003734712 RCV004661755
NM_181458.4(PAX3):c.792+1G>A	SNV Germline	Chr2:222232077	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2469284746	1 SubmittersRCV004590546
NM_181458.4(PAX3):c.52C>T (p.Gln18Ter)	SNV Germline	Chr2:222298564	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2469495332	1 SubmittersRCV004592367
NM_181458.4(PAX3):c.265A>G (p.Arg89Gly)	SNV Germline	Chr2:222297034	Likely pathogenic	Waardenburg syndrome type 3	Criteria Provided Single Submitter			1 SubmittersRCV004691710
NM_181458.4(PAX3):c.178G>A (p.Val60Met)	SNV Germline	Chr2:222297121	Likely pathogenic	Condition: not provided Waardenburg syndrome type 1	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV004697940 RCV005871540
NM_181458.4(PAX3):c.793-1G>C	SNV Germline	Chr2:222221388	Pathogenic	PAX3-related disorder Waardenburg syndrome type 1	Criteria Provided Single Submitter			2 SubmittersRCV004731712 RCV005052904
NM_181458.4(PAX3):c.232G>A (p.Val78Met)	SNV Germline	Chr2:222297067	Pathogenic	PAX3-related disorder Waardenburg syndrome type 1	Criteria Provided Single Submitter			2 SubmittersRCV004755449 RCV004759451
NM_181458.4(PAX3):c.86-2A>C	SNV Germline	Chr2:222297215	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004788651 RCV006479308
NM_181458.4(PAX3):c.185T>C (p.Met62Thr)	SNV Germline	Chr2:222297114	Likely pathogenic	Waardenburg syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004795332
NM_181458.4(PAX3):c.452-1G>A	SNV Germline	Chr2:222294302	Pathogenic/Likely pathogenic	Craniofacial-deafness-hand syndrome Waardenburg syndrome type 3 Alveolar rhabdomyosarcoma Waardenburg syndrome type 1 Waardenburg syndrome type 1 Monogenic hearing loss	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV004795594 RCV005052913 RCV006437250
NM_181458.4(PAX3):c.452-2A>C	SNV Germline	Chr2:222294303	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005002199
NM_181458.4(PAX3):c.1065C>A (p.Cys355Ter)	SNV Germline	Chr2:222220248	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053489
NM_181458.4(PAX3):c.196G>C (p.Gly66Arg)	SNV Germline	Chr2:222297103	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053492
NM_181458.4(PAX3):c.214A>G (p.Ile72Val)	SNV Germline	Chr2:222297085	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053493
NM_181458.4(PAX3):c.214A>T (p.Ile72Phe)	SNV Germline	Chr2:222297085	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053494
NM_181458.4(PAX3):c.236C>G (p.Ser79Cys)	SNV Germline	Chr2:222297063	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053495
NM_181458.4(PAX3):c.240C>A (p.His80Gln)	SNV Germline	Chr2:222297059	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053496
NM_181458.4(PAX3):c.357G>T (p.Glu119Asp)	SNV Germline	Chr2:222295622	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053499
NM_181458.4(PAX3):c.358G>T (p.Glu120Ter)	SNV Germline	Chr2:222295621	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053500
NM_181458.4(PAX3):c.451+1G>C	SNV Germline	Chr2:222295527	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053501
NM_181458.4(PAX3):c.729C>G (p.Tyr243Ter)	SNV Germline	Chr2:222232141	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053508
NM_181458.4(PAX3):c.792+2T>A	SNV Germline	Chr2:222232076	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053510
NM_181458.4(PAX3):c.792G>C (p.Gln264His)	SNV Germline	Chr2:222232078	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053511
NM_181458.4(PAX3):c.793-1G>A	SNV Germline	Chr2:222221388	Pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005053512 RCV005105393
NM_181458.4(PAX3):c.804C>A (p.Ser268Arg)	SNV Germline	Chr2:222221376	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053514
NM_181458.4(PAX3):c.822G>A (p.Trp274Ter)	SNV Germline	Chr2:222221358	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053515
NM_181458.4(PAX3):c.-84A>G	SNV Germline	Chr2:222298699	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053516
NM_181458.4(PAX3):c.86-1G>C	SNV Germline	Chr2:222297214	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005053517
NM_181458.4(PAX3):c.590C>G (p.Ser197Ter)	SNV Germline	Chr2:222232280	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005115658
NM_181458.4(PAX3):c.143G>T (p.Gly48Val)	SNV Germline	Chr2:222297156	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005123858
NM_181458.4(PAX3):c.346A>T (p.Lys116Ter)	SNV Germline	Chr2:222295633	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005133373
NM_181458.4(PAX3):c.148C>A (p.Pro50Thr)	SNV Germline	Chr2:222297151	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005137769
NM_181458.4(PAX3):c.103C>T (p.Gln35Ter)	SNV Germline	Chr2:222297196	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005201228
NM_181458.4(PAX3):c.937C>T (p.Gln313Ter)	SNV Germline	Chr2:222221243	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005198224
NM_181458.4(PAX3):c.598C>T (p.Gln200Ter)	SNV Germline	Chr2:222232272	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005198225
NM_181458.4(PAX3):c.253A>G (p.Lys85Glu)	SNV Germline	Chr2:222297046	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005198226
NM_181458.4(PAX3):c.178G>T (p.Val60Leu)	SNV Germline	Chr2:222297121	Likely pathogenic	Alveolar rhabdomyosarcoma Waardenburg syndrome type 1 Waardenburg syndrome type 3 Craniofacial-deafness-hand syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005229720
NM_181458.4(PAX3):c.321+2T>C	SNV Germline	Chr2:222296976	Likely pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided			1 SubmittersRCV005638714
NM_181458.4(PAX3):c.271C>T (p.Gln91Ter)	SNV Germline	Chr2:222297028	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV005397454
NM_181458.4(PAX3):c.703G>T (p.Glu235Ter)	SNV Germline	Chr2:222232167	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005630221
NM_181458.4(PAX3):c.269A>C (p.Tyr90Ser)	SNV Germline	Chr2:222297030	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005644048
NM_181458.4(PAX3):c.124G>A (p.Gly42Ser)	SNV Germline	Chr2:222297175	Likely pathogenic	Monogenic hearing loss Waardenburg syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006249260 RCV006645559
NM_181458.4(PAX3):c.587-10416A>G	SNV Germline	Chr2:222242699	Likely pathogenic	Waardenburg syndrome type 3 Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV006249496
NM_181458.4(PAX3):c.85+1G>T	SNV Germline	Chr2:222298530	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006528856
NM_181458.4(PAX3):c.811C>G (p.Arg271Gly)	SNV Germline	Chr2:222221369	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006537262
NM_181458.4(PAX3):c.812G>C (p.Arg271Pro)	SNV Germline	Chr2:222221368	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV006646316
NM_181458.4(PAX3):c.363C>A (p.Tyr121Ter)	SNV Germline	Chr2:222295616	Likely pathogenic	Autosomal dominant PAX3-related disorders	Criteria Provided Single Submitter			1 SubmittersRCV006699677

NM_181458.4(PAX3):c.149C>T (p.Pro50Leu)

SNV
Germline

Chr2:222297150

Pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA253048

rs_104893650

2 SubmittersRCV000004426 RCV006461092

NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)

SNV
Germline

Chr2:222297057

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided
Monogenic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA253049

rs_587776586

4 SubmittersRCV000004430 RCV002512755 RCV006738124

NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)

SNV
Germline

Chr2:222297048

Pathogenic

Waardenburg syndrome type 3
Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116691

rs_104893651

6 SubmittersRCV000004432 RCV000004433 RCV003555913

NM_181458.4(PAX3):c.141C>G (p.Asn47Lys)

SNV
Germline

Chr2:222297158

Likely pathogenic

Craniofacial-deafness-hand syndrome
Condition: not provided
Waardenburg syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA116692

rs_104893652

3 SubmittersRCV000004434 RCV003229799 RCV006741964

NM_181458.4(PAX3):c.139A>C (p.Asn47His)

SNV
Germline

Chr2:222297160

Pathogenic

Waardenburg syndrome type 3

No Assertion Criteria Provided

CA116693

rs_104893653

1 SubmittersRCV000004435

NM_181458.4(PAX3):c.268T>C (p.Tyr90His)

SNV
Germline

Chr2:222297031

Pathogenic

Waardenburg syndrome type 3

No Assertion Criteria Provided

CA116694

rs_104893654

1 SubmittersRCV000004437

NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)

SNV
Germline

Chr2:222297132

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Waardenburg syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253050

rs_267606931

3 SubmittersRCV000004438 RCV001375270 RCV002274876

NM_181458.4(PAX3):c.238C>G (p.His80Asp)

SNV
Germline

Chr2:222297061

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

CA259837

rs_387906947

1 SubmittersRCV000023560

NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)

SNV
Germline

Chr2:222297058

Conflicting classifications of pathogenicity

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA269911

rs_483353059

3 SubmittersRCV000119819 RCV001854589

NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)

SNV
Germline

Chr2:222221236

Conflicting classifications of pathogenicity

Congenital diaphragmatic hernia
not specified
Waardenburg syndrome
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339658

rs_2234675

9 SubmittersRCV000203286 RCV000213796 RCV000293967 RCV000348942 RCV000626405 RCV000992502

NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)

SNV
Germline

Chr2:222220310

Conflicting classifications of pathogenicity

not specified
Craniofacial-deafness-hand syndrome
Waardenburg syndrome
Condition: not provided
Usher syndrome

Criteria Provided
Conflicting Classifications

CA2135519

rs_151199924

4 SubmittersRCV000222451 RCV000329028 RCV000383564 RCV000915585 RCV003389463

NM_181458.4(PAX3):c.668G>A (p.Arg223Gln)

SNV
Germline

Chr2:222232202

Pathogenic

Rare genetic deafness
Waardenburg syndrome
Condition: not provided
Waardenburg syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10576591

rs_876657717

5 SubmittersRCV000216335 RCV001092432 RCV005051764

NM_181458.4(PAX3):c.572T>C (p.Ile191Thr)

SNV
Germline

Chr2:222294181

Conflicting classifications of pathogenicity

not specified
Condition: not provided
PAX3-related disorder

Criteria Provided
Conflicting Classifications

CA2135689

rs_199560470

4 SubmittersRCV000214708 RCV000923984 RCV003955276

NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)

SNV
Germline

Chr2:222295564

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

CA10581222

rs_876661317

1 SubmittersRCV000223708

NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)

SNV
Germline

Chr2:222232086

Pathogenic

Condition: not provided
Waardenburg syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10602851

rs_886041319

6 SubmittersRCV000315662 RCV000660215

NM_181458.4(PAX3):c.812G>A (p.Arg271His)

SNV
Germline

Chr2:222221368

Pathogenic

Condition: not provided
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Waardenburg syndrome type 1
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2135564

rs_774528745

6 SubmittersRCV000372931 RCV000660219 RCV002500967

NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)

SNV
Germline

Chr2:222220195

Conflicting classifications of pathogenicity

Craniofacial-deafness-hand syndrome
Waardenburg syndrome
Condition: not provided
not specified
Hearing impairment

Criteria Provided
Conflicting Classifications

CA2135497

rs_200701839

5 SubmittersRCV000288552 RCV000382870 RCV001545472 RCV001195199 RCV001375455

NM_181458.4(PAX3):c.602C>G (p.Ser201Ter)

SNV
Germline

Chr2:222232268

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16604154

rs_1057524511

1 SubmittersRCV000439995

NM_181458.4(PAX3):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr2:222232080

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351112120

rs_1553575159

1 SubmittersRCV000626394

NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)

SNV
Germline

Chr2:222297157

Likely pathogenic

Waardenburg syndrome type 1
Waardenburg syndrome type 3

Criteria Provided
Multiple Submitters
No Conflicts

CA351113735

rs_1419548558

2 SubmittersRCV000626390 RCV002294350

NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)

SNV
Germline

Chr2:222297157

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351113733

rs_1419548558

4 SubmittersRCV000626396 RCV001853832

NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)

SNV
Germline

Chr2:222297175

Likely pathogenic

Waardenburg syndrome type 1
Intellectual disability
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351113772

rs_773327091

5 SubmittersRCV000626392 RCV001526650 RCV001859999

NM_181458.4(PAX3):c.583C>T (p.Arg195Ter)

SNV
Germline

Chr2:222294170

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351112470

rs_1220219700

2 SubmittersRCV000579086

NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)

SNV
Germline

Chr2:222232203

Pathogenic

Condition: not provided
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Monogenic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA2135602

rs_772241382

12 SubmittersRCV000599259 RCV001290145 RCV001335583 RCV006709029

NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)

SNV
Germline

Chr2:222294213

Conflicting classifications of pathogenicity

not specified
Waardenburg syndrome type 1
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 3
Alveolar rhabdomyosarcoma
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2135703

rs_200679164

4 SubmittersRCV000601148 RCV000765615 RCV003718260 RCV004024887

NM_181458.4(PAX3):c.1116T>A (p.Pro372=)

SNV
Germline

Chr2:222220197

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2135498

rs_770424826

3 SubmittersRCV000606561 RCV005056268

NM_181458.4(PAX3):c.958+9G>A

SNV
Germline

Chr2:222221213

Conflicting classifications of pathogenicity

not specified
Waardenburg syndrome
Craniofacial-deafness-hand syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2135544

rs_185119406

3 SubmittersRCV000603902 RCV001136878 RCV001136877 RCV002065193

NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)

SNV
Germline

Chr2:222294173

Conflicting classifications of pathogenicity

not specified
Craniofacial-deafness-hand syndrome
Alveolar rhabdomyosarcoma
Waardenburg syndrome type 3
Waardenburg syndrome type 1
Waardenburg syndrome
Craniofacial-deafness-hand syndrome
Condition: not provided
Waardenburg syndrome type 1

Criteria Provided
Conflicting Classifications

CA2135687

rs_148454691

8 SubmittersRCV000606544 RCV000765614 RCV001139117 RCV001139116 RCV001770539 RCV004821284

NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)

SNV
Germline

Chr2:222202134

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

CA351115813

rs_147111779

1 SubmittersRCV000721952

NM_181458.4(PAX3):c.256A>T (p.Ile86Phe)

SNV
Germline

Chr2:222297043

Likely pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

CA351113485

rs_1559320299

1 SubmittersRCV000721953

NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)

SNV
Germline

Chr2:222202087

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351115724

rs_369886550

2 SubmittersRCV000660223 RCV006463822

NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)

SNV
Germline

Chr2:222220292

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351116278

rs_1553572740

1 SubmittersRCV000660222

NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)

SNV
Germline

Chr2:222221369

Pathogenic

Waardenburg syndrome type 1
Condition: not provided
Waardenburg syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA351116731

rs_1380858784

7 SubmittersRCV000660218 RCV001861717 RCV004808837 RCV006367213

NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)

SNV
Germline

Chr2:222221372

Pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351116737

rs_1228590199

4 SubmittersRCV000660217 RCV002222584

NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)

SNV
Germline

Chr2:222232079

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351112117

rs_1553575157

1 SubmittersRCV000660216

NM_181458.4(PAX3):c.692T>C (p.Leu231Pro)

SNV
Germline

Chr2:222232178

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351112519

rs_1553575191

1 SubmittersRCV000660213

NM_181458.4(PAX3):c.452-9C>A

SNV
Germline

Chr2:222294310

Conflicting classifications of pathogenicity

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658821475

rs_1379006499

3 SubmittersRCV000660208 RCV001861716

NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys)

SNV
Germline

Chr2:222297030

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351113457

rs_1553593874

1 SubmittersRCV000660206

NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)

SNV
Germline

Chr2:222297053

Likely pathogenic

Waardenburg syndrome type 3
Rare genetic deafness
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351113508

rs_777297575

3 SubmittersRCV000660204 RCV000826182 RCV002263924

NM_181458.4(PAX3):c.246C>A (p.Cys82Ter)

SNV
Germline

Chr2:222297053

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351113507

rs_777297575

1 SubmittersRCV000660205

NM_181458.4(PAX3):c.232G>T (p.Val78Leu)

SNV
Germline

Chr2:222297067

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351113534

rs_1553593917

1 SubmittersRCV000660203

NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)

SNV
Germline

Chr2:222297081

Pathogenic

Waardenburg syndrome type 1
Waardenburg syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351113563

rs_1553593928

2 SubmittersRCV000660201 RCV004794431

NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)

SNV
Germline

Chr2:222297089

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided
PAX3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA351113581

rs_1356246522

5 SubmittersRCV000660200 RCV002530563 RCV004731007

NM_181458.4(PAX3):c.86-2A>G

SNV
Germline

Chr2:222297215

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351113854

rs_1553594069

2 SubmittersRCV000660198 RCV001861715

NM_181458.4(PAX3):c.821G>A (p.Trp274Ter)

SNV
Germline

Chr2:222221359

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351116713

rs_1559264524

1 SubmittersRCV000760344

NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter)

SNV
Germline

Chr2:222220147

Pathogenic

Rare genetic deafness

Criteria Provided
Single Submitter

CA351115964

rs_758136826

1 SubmittersRCV000825626

NM_181458.4(PAX3):c.1248C>T (p.Thr416=)

SNV
Germline

Chr2:222202116

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome
Craniofacial-deafness-hand syndrome

Criteria Provided
Conflicting Classifications

CA2135455

rs_376147620

2 SubmittersRCV000919846 RCV001139013 RCV001141621

NM_181458.4(PAX3):c.1029G>A (p.Thr343=)

SNV
Germline

Chr2:222220284

Conflicting classifications of pathogenicity

Condition: not provided
Craniofacial-deafness-hand syndrome
Waardenburg syndrome

Criteria Provided
Conflicting Classifications

CA2135514

rs_747502205

2 SubmittersRCV000915421 RCV001143437 RCV001143438

NM_181458.4(PAX3):c.239A>G (p.His80Arg)

SNV
Unknown

Chr2:222297060

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351113520

rs_1574771535

1 SubmittersRCV000987040

NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)

SNV
Germline

Chr2:222297172

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

CA351113766

rs_1574772091

1 SubmittersRCV001027516

NM_181458.4(PAX3):c.981C>T (p.Thr327=)

SNV
Germline

Chr2:222220332

Conflicting classifications of pathogenicity

Craniofacial-deafness-hand syndrome
Waardenburg syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2135523

rs_374429328

2 SubmittersRCV001136875 RCV001136876 RCV002070596

NM_181458.4(PAX3):c.567C>T (p.Asp189=)

SNV
Germline

Chr2:222294186

Conflicting classifications of pathogenicity

Craniofacial-deafness-hand syndrome
Waardenburg syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2135691

rs_774455796

3 SubmittersRCV001141725 RCV001139118 RCV004694860 RCV006688849

NM_181458.4(PAX3):c.290G>C (p.Arg97Pro)

SNV
Germline

Chr2:222297009

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113409

rs_1695335992

1 SubmittersRCV001171823

NM_181458.4(PAX3):c.715G>T (p.Glu239Ter)

SNV
Germline

Chr2:222232155

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351112418

rs_1692621563

1 SubmittersRCV001200642

NM_181458.4(PAX3):c.242G>A (p.Gly81Asp)

SNV
Germline

Chr2:222297057

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113515

rs_587776586

1 SubmittersRCV001237226

NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)

SNV
Germline

Chr2:222297029

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Intellectual disability
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351113454

rs_1695336858

2 SubmittersRCV001253125 RCV001255326 RCV003222277

NM_181458.4(PAX3):c.530C>G (p.Ala177Gly)

SNV
Germline

Chr2:222294223

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351112715

rs_200517998

1 SubmittersRCV001281643

NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)

SNV
Germline

Chr2:222232115

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351112229

rs_1692619812

1 SubmittersRCV001290148

NM_181458.4(PAX3):c.706C>A (p.Arg236Ser)

SNV
Germline

Chr2:222232164

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA2135599

rs_769650688

1 SubmittersRCV001290147

NM_181458.4(PAX3):c.671C>T (p.Thr224Ile)

SNV
Germline

Chr2:222232199

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351112603

rs_1692623308

1 SubmittersRCV001290146

NM_181458.4(PAX3):c.241G>C (p.Gly81Arg)

SNV
Germline

Chr2:222297058

Pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2135792

rs_483353059

2 SubmittersRCV001290143 RCV005094345

NM_181458.4(PAX3):c.*175C>T

SNV
Germline

Chr2:222201233

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351115219

rs_780660984

1 SubmittersRCV001353097

NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)

SNV
Unknown

Chr2:222221351

Pathogenic

Waardenburg syndrome type 3

Criteria Provided
Single Submitter

CA351116690

rs_2106074565

1 SubmittersRCV001375039

NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)

SNV
Germline

Chr2:222297133

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351113682

rs_1279989885

1 SubmittersRCV001375038

NM_181458.4(PAX3):c.955C>T (p.Gln319Ter)

SNV
Germline

Chr2:222221225

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351116428

rs_2106074168

1 SubmittersRCV001531348

NM_181458.4(PAX3):c.233T>A (p.Val78Glu)

SNV
Germline

Chr2:222297066

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113533

rs_2106203794

1 SubmittersRCV001558191

NM_181458.4(PAX3):c.586+2T>A

SNV
Germline

Chr2:222294165

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351112455

rs_2106196576

1 SubmittersRCV001729953

NM_181458.4(PAX3):c.281G>T (p.Gly94Val)

SNV
Germline

Chr2:222297018

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351113426

rs_2106203654

1 SubmittersRCV001729951

NM_181458.4(PAX3):c.202C>T (p.Arg68Trp)

SNV
Germline

Chr2:222297097

Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351113597

rs_2106203892

2 SubmittersRCV001728007 RCV003660898

NM_181458.4(PAX3):c.255G>C (p.Lys85Asn)

SNV
Germline

Chr2:222297044

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113489

rs_2106203729

1 SubmittersRCV002048715

NM_181458.4(PAX3):c.184A>G (p.Met62Val)

SNV
Germline

Chr2:222297115

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113641

rs_2106203978

1 SubmittersRCV001956357

NM_181458.4(PAX3):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr2:222297181

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113785

rs_1461573611

1 SubmittersRCV001935842

NM_181458.4(PAX3):c.809G>C (p.Arg270Pro)

SNV
Germline

Chr2:222221371

Likely pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

CA351116735

rs_2106074603

1 SubmittersRCV002223101

NM_181458.4(PAX3):c.713T>C (p.Phe238Ser)

SNV
Germline

Chr2:222232157

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

CA351112430

rs_2106095147

1 SubmittersRCV002246165

NM_181458.4(PAX3):c.792+2T>C

SNV
Germline

Chr2:222232076

Pathogenic

Craniofacial-deafness-hand syndrome

Criteria Provided
Single Submitter

CA351112100

rs_2106094950

1 SubmittersRCV002250172

NM_181458.4(PAX3):c.450A>G (p.Ser150=)

SNV
Germline

Chr2:222295529

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA431575793

rs_2469478626

1 SubmittersRCV002281378

NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)

SNV
Germline

Chr2:222232182

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351112539

rs_2469285416

1 SubmittersRCV002287291

NM_181458.4(PAX3):c.797G>A (p.Trp266Ter)

SNV
Germline

Chr2:222221383

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351116769

rs_2469252734

1 SubmittersRCV002306070

NM_181458.4(PAX3):c.451+1G>A

SNV
Germline

Chr2:222295527

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113031

rs_2469478619

1 SubmittersRCV002651611

NM_181458.4(PAX3):c.668G>T (p.Arg223Leu)

SNV
Germline

Chr2:222232202

Pathogenic/Likely pathogenic

Condition: not provided
PAX3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA351112613

rs_876657717

2 SubmittersRCV002791941 RCV003409933

NM_181458.4(PAX3):c.218C>G (p.Ser73Trp)

SNV
Germline

Chr2:222297081

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113564

rs_1553593928

1 SubmittersRCV002872118

NM_181458.4(PAX3):c.139A>G (p.Asn47Asp)

SNV
Germline

Chr2:222297160

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113741

rs_104893653

1 SubmittersRCV002937246

NM_181458.4(PAX3):c.1213C>T (p.Gln405Ter)

SNV
Germline

Chr2:222202151

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351115852

rs_2469197157

1 SubmittersRCV003035449

NM_181458.4(PAX3):c.238C>T (p.His80Tyr)

SNV
Germline

Chr2:222297061

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome type 1

Criteria Provided
Conflicting Classifications

CA351113523

rs_387906947

2 SubmittersRCV003037060 RCV003493976

NM_181458.4(PAX3):c.586G>A (p.Ala196Thr)

SNV
Germline

Chr2:222294167

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351112463

rs_2469471076

1 SubmittersRCV003223894

NM_181458.4(PAX3):c.793G>T (p.Val265Phe)

SNV
Germline

Chr2:222221387

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351116776

rs_1210072810

1 SubmittersRCV003318289

NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)

SNV
Germline

Chr2:222232268

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351112907

rs_1057524511

1 SubmittersRCV003327322

NM_181458.4(PAX3):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr2:222220319

Likely pathogenic

PAX3-related disorder

Criteria Provided
Single Submitter

CA351116331

rs_2469249189

1 SubmittersRCV003408413

NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)

SNV
Germline

Chr2:222295546

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

CA351113069

rs_1695251013

1 SubmittersRCV003445432

NM_181458.4(PAX3):c.809G>A (p.Arg270His)

SNV
Germline

Chr2:222221371

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA351116736

rs_2106074603

2 SubmittersRCV003448549

NM_181458.4(PAX3):c.490A>T (p.Lys164Ter)

SNV
Germline

Chr2:222294263

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351112897

rs_2469471849

1 SubmittersRCV003547977

NM_181458.4(PAX3):c.322-2A>G

SNV
Germline

Chr2:222295659

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113336

rs_2469479413

1 SubmittersRCV003547711

NM_181458.4(PAX3):c.1174-2A>G

SNV
Germline

Chr2:222202192

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351115940

rs_2469197395

1 SubmittersRCV003563112

NM_181458.4(PAX3):c.127G>A (p.Gly43Ser)

SNV
Germline

Chr2:222297172

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113768

rs_1574772091

1 SubmittersRCV003569376

NM_181458.4(PAX3):c.266G>C (p.Arg89Thr)

SNV
Germline

Chr2:222297033

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351113465

rs_2469486031

1 SubmittersRCV003564914

NM_181458.4(PAX3):c.936C>G (p.Tyr312Ter)

SNV
Germline

Chr2:222221244

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA351116464

rs_2469252164

1 SubmittersRCV003711152

NM_181458.4(PAX3):c.1375A>C (p.Ser459Arg)

SNV
Germline

Chr2:222201989

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2135435

rs_776059693

2 SubmittersRCV003734712 RCV004661755

NM_181458.4(PAX3):c.792+1G>A

SNV
Germline

Chr2:222232077

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2469284746

1 SubmittersRCV004590546

NM_181458.4(PAX3):c.52C>T (p.Gln18Ter)

SNV
Germline

Chr2:222298564

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2469495332

1 SubmittersRCV004592367

NM_181458.4(PAX3):c.265A>G (p.Arg89Gly)

SNV
Germline

Chr2:222297034

Likely pathogenic

Waardenburg syndrome type 3

Criteria Provided
Single Submitter

1 SubmittersRCV004691710

NM_181458.4(PAX3):c.178G>A (p.Val60Met)

SNV
Germline

Chr2:222297121

Likely pathogenic

Condition: not provided
Waardenburg syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004697940 RCV005871540

NM_181458.4(PAX3):c.793-1G>C

SNV
Germline

Chr2:222221388

Pathogenic

PAX3-related disorder
Waardenburg syndrome type 1

Criteria Provided
Single Submitter

2 SubmittersRCV004731712 RCV005052904

NM_181458.4(PAX3):c.232G>A (p.Val78Met)

SNV
Germline

Chr2:222297067

Pathogenic

PAX3-related disorder
Waardenburg syndrome type 1

Criteria Provided
Single Submitter

2 SubmittersRCV004755449 RCV004759451

NM_181458.4(PAX3):c.86-2A>C

SNV
Germline

Chr2:222297215

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788651 RCV006479308

NM_181458.4(PAX3):c.185T>C (p.Met62Thr)

SNV
Germline

Chr2:222297114

Likely pathogenic

Waardenburg syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795332

NM_181458.4(PAX3):c.452-1G>A

SNV
Germline

Chr2:222294302

Pathogenic/Likely pathogenic

Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 3
Alveolar rhabdomyosarcoma
Waardenburg syndrome type 1
Waardenburg syndrome type 1
Monogenic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004795594 RCV005052913 RCV006437250

NM_181458.4(PAX3):c.452-2A>C

SNV
Germline

Chr2:222294303

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005002199

NM_181458.4(PAX3):c.1065C>A (p.Cys355Ter)

SNV
Germline

Chr2:222220248

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053489

NM_181458.4(PAX3):c.196G>C (p.Gly66Arg)

SNV
Germline

Chr2:222297103

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053492

NM_181458.4(PAX3):c.214A>G (p.Ile72Val)

SNV
Germline

Chr2:222297085

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053493

NM_181458.4(PAX3):c.214A>T (p.Ile72Phe)

SNV
Germline

Chr2:222297085

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053494

NM_181458.4(PAX3):c.236C>G (p.Ser79Cys)

SNV
Germline

Chr2:222297063

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053495

NM_181458.4(PAX3):c.240C>A (p.His80Gln)

SNV
Germline

Chr2:222297059

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053496

NM_181458.4(PAX3):c.357G>T (p.Glu119Asp)

SNV
Germline

Chr2:222295622

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053499

NM_181458.4(PAX3):c.358G>T (p.Glu120Ter)

SNV
Germline

Chr2:222295621

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053500

NM_181458.4(PAX3):c.451+1G>C

SNV
Germline

Chr2:222295527

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053501

NM_181458.4(PAX3):c.729C>G (p.Tyr243Ter)

SNV
Germline

Chr2:222232141

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053508

NM_181458.4(PAX3):c.792+2T>A

SNV
Germline

Chr2:222232076

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053510

NM_181458.4(PAX3):c.792G>C (p.Gln264His)

SNV
Germline

Chr2:222232078

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053511

NM_181458.4(PAX3):c.793-1G>A

SNV
Germline

Chr2:222221388

Pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005053512 RCV005105393

NM_181458.4(PAX3):c.804C>A (p.Ser268Arg)

SNV
Germline

Chr2:222221376

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053514

NM_181458.4(PAX3):c.822G>A (p.Trp274Ter)

SNV
Germline

Chr2:222221358

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053515

NM_181458.4(PAX3):c.-84A>G

SNV
Germline

Chr2:222298699

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053516

NM_181458.4(PAX3):c.86-1G>C

SNV
Germline

Chr2:222297214

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005053517

NM_181458.4(PAX3):c.590C>G (p.Ser197Ter)

SNV
Germline

Chr2:222232280

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005115658

NM_181458.4(PAX3):c.143G>T (p.Gly48Val)

SNV
Germline

Chr2:222297156

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005123858

NM_181458.4(PAX3):c.346A>T (p.Lys116Ter)

SNV
Germline

Chr2:222295633

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005133373

NM_181458.4(PAX3):c.148C>A (p.Pro50Thr)

SNV
Germline

Chr2:222297151

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005137769

NM_181458.4(PAX3):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr2:222297196

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005201228

NM_181458.4(PAX3):c.937C>T (p.Gln313Ter)

SNV
Germline

Chr2:222221243

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005198224

NM_181458.4(PAX3):c.598C>T (p.Gln200Ter)

SNV
Germline

Chr2:222232272

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005198225

NM_181458.4(PAX3):c.253A>G (p.Lys85Glu)

SNV
Germline

Chr2:222297046

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005198226

NM_181458.4(PAX3):c.178G>T (p.Val60Leu)

SNV
Germline

Chr2:222297121

Likely pathogenic

Alveolar rhabdomyosarcoma
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Craniofacial-deafness-hand syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005229720

NM_181458.4(PAX3):c.321+2T>C

SNV
Germline

Chr2:222296976

Likely pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

1 SubmittersRCV005638714

NM_181458.4(PAX3):c.271C>T (p.Gln91Ter)

SNV
Germline

Chr2:222297028

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV005397454

NM_181458.4(PAX3):c.703G>T (p.Glu235Ter)

SNV
Germline

Chr2:222232167

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005630221

NM_181458.4(PAX3):c.269A>C (p.Tyr90Ser)

SNV
Germline

Chr2:222297030

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005644048

NM_181458.4(PAX3):c.124G>A (p.Gly42Ser)

SNV
Germline

Chr2:222297175

Likely pathogenic

Monogenic hearing loss
Waardenburg syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006249260 RCV006645559

NM_181458.4(PAX3):c.587-10416A>G

SNV
Germline

Chr2:222242699

Likely pathogenic

Waardenburg syndrome type 3
Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV006249496

NM_181458.4(PAX3):c.85+1G>T

SNV
Germline

Chr2:222298530

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006528856

NM_181458.4(PAX3):c.811C>G (p.Arg271Gly)

SNV
Germline

Chr2:222221369

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006537262

NM_181458.4(PAX3):c.812G>C (p.Arg271Pro)

SNV
Germline

Chr2:222221368

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV006646316

NM_181458.4(PAX3):c.363C>A (p.Tyr121Ter)

SNV
Germline

Chr2:222295616

Likely pathogenic

Autosomal dominant PAX3-related disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006699677