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	No Assertion Criteria Provided	CA253048	rs_104893650	1 SubmittersRCV000004426
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)	SNV Germline	Chr2:222297057	Pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA253049	rs_587776586	2 SubmittersRCV000004430 RCV002512755
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	4 SubmittersRCV000004432 RCV000004433 RCV003555913
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_006941.4(SOX10):c.565G>T (p.Glu189Ter)	SNV Germline	Chr22:37977999	Pathogenic	Waardenburg syndrome type 4C	No Assertion Criteria Provided	CA118747	rs_74315514	1 SubmittersRCV000007817
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)	SNV Germline	Chr22:37983536	Pathogenic	Waardenburg syndrome type 4C	No Assertion Criteria Provided	CA118750	rs_73415876	1 SubmittersRCV000007818
NM_006941.4(SOX10):c.404G>C (p.Ser135Thr)	SNV Germline	Chr22:37983381	Pathogenic	Waardenburg syndrome type 2E, without neurologic involvement	No Assertion Criteria Provided	CA118757	rs_74315515	1 SubmittersRCV000007821
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter)	SNV Germline	Chr22:37977943	Pathogenic	Waardenburg syndrome type 4C	No Assertion Criteria Provided	CA118766	rs_281797260	1 SubmittersRCV000007825
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)	SNV Germline	Chr22:37973767	Pathogenic	Waardenburg syndrome type 2E, with neurologic involvement Waardenburg syndrome type 4C Condition: not provided	Criteria Provided Single Submitter	CA118769	rs_74315520	2 SubmittersRCV000007827 RCV000007826 RCV000760372
NM_006941.4(SOX10):c.470C>T (p.Ala157Val)	SNV Germline	Chr22:37978094	Pathogenic	Waardenburg syndrome type 4C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118779	rs_121909117	3 SubmittersRCV000007833 RCV002273922
NM_006941.4(SOX10):c.698-2A>C	SNV Germline	Chr22:37974200	Pathogenic	Waardenburg syndrome type 2E, with neurologic involvement	No Assertion Criteria Provided	CA118781	rs_397515370	1 SubmittersRCV000007834
NM_006941.4(SOX10):c.521A>C (p.Gln174Pro)	SNV Germline	Chr22:37978043	Pathogenic	Waardenburg syndrome type 2E, with neurologic involvement	No Assertion Criteria Provided	CA118782	rs_267607081	1 SubmittersRCV000007835
NM_000248.4(MITF):c.33+1G>A	SNV Germline	Chr3:69936756	Pathogenic	Waardenburg syndrome type 2A	No Assertion Criteria Provided	CA353560232	rs_1553701477	1 SubmittersRCV000015340
NM_001354604.2(MITF):c.763-2A>C	SNV Germline	Chr3:69949049	Pathogenic	Waardenburg syndrome type 2A	No Assertion Criteria Provided	CA353561234	rs_1553703612	1 SubmittersRCV000015341
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro)	SNV Germline	Chr3:69959310	Pathogenic	Waardenburg syndrome type 2A	No Assertion Criteria Provided	CA123830	rs_104893744	1 SubmittersRCV000015343
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)	SNV Germline	Chr3:69956460	Pathogenic	Waardenburg syndrome type 2A Heterochromia iridis Poliosis Prelingual sensorineural hearing impairment Hearing impairment Condition: not provided Ear malformation	Criteria Provided Multiple Submitters No Conflicts	CA123834	rs_104893746	8 SubmittersRCV000015346 RCV000415265 RCV000414854 RCV001200166 RCV001813988
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	SNV Germline	Chr13:77901181	Conflicting classifications of pathogenicity	Waardenburg syndrome type 4A Hirschsprung disease, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA126743	rs_104894387	3 SubmittersRCV000018113 RCV000018112 RCV003236768
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)	SNV Germline	Chr13:77903543	Pathogenic	Waardenburg syndrome type 4A	No Assertion Criteria Provided	CA126744	rs_104894388	1 SubmittersRCV000018114
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	SNV Germline	Chr13:77901095	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 not specified Waardenburg syndrome type 4A Condition: not provided Waardenburg syndrome type 2A Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	Criteria Provided Conflicting Classifications	CA257563	rs_5352	12 SubmittersRCV000018118 RCV000222856 RCV000659497 RCV000954472 RCV000626404 RCV001258252
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)	SNV Germline	Chr13:77903200	Pathogenic/Likely pathogenic	Waardenburg syndrome type 4A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA126745	rs_104894390	3 SubmittersRCV000018119 RCV001851902
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)	SNV Germline	Chr13:77903356	Pathogenic	ABCD syndrome Waardenburg syndrome type 4A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA214755	rs_104894391	4 SubmittersRCV000018120 RCV000659496 RCV001092078
NM_207034.3(EDN3):c.476G>T (p.Cys159Phe)	SNV Germline	Chr20:59321127	Pathogenic	Waardenburg syndrome type 4B	No Assertion Criteria Provided	CA126747	rs_74315384	1 SubmittersRCV000018124
NM_207034.3(EDN3):c.507C>A (p.Cys169Ter)	SNV Germline	Chr20:59321158	Pathogenic	Waardenburg syndrome type 4B	No Assertion Criteria Provided	CA126750	rs_74315385	1 SubmittersRCV000018129
NM_207034.3(EDN3):c.335A>G (p.His112Arg)	SNV Germline	Chr20:59301692	Pathogenic	Waardenburg syndrome type 4B	No Assertion Criteria Provided	CA126752	rs_267606778	1 SubmittersRCV000018130
NM_207034.3(EDN3):c.277C>G (p.Arg93Gly)	SNV Germline	Chr20:59301634	Pathogenic	Waardenburg syndrome type 4B	No Assertion Criteria Provided	CA126754	rs_267606779	1 SubmittersRCV000018131
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	SNV Germline	Chr3:69964940	Pathogenic/Likely pathogenic; risk factor	Melanoma, cutaneous malignant, susceptibility to, 8 Hereditary cancer-predisposing syndrome not specified Condition: not provided Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Melanoma Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Criteria Provided Multiple Submitters No Conflicts	CA128649	rs_149617956	27 SubmittersRCV000022661 RCV000129682 RCV000222278 RCV000484916 RCV000627790 RCV001195106 RCV001535706 RCV002247378 RCV002490402
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_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)	SNV Germline	Chr21:42388437	Conflicting classifications of pathogenicity	not specified Condition: not provided Waardenburg syndrome	Criteria Provided Conflicting Classifications	CA137714	rs_140614903	6 SubmittersRCV000039355 RCV000730846 RCV001375064
NM_006941.4(SOX10):c.2T>G (p.Met1Arg)	SNV Germline	Chr22:37983783	Pathogenic	Waardenburg syndrome type 2E, without neurologic involvement	No Assertion Criteria Provided	CA144812	rs_397515457	1 SubmittersRCV000055673
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	8 SubmittersRCV000203286 RCV000213796 RCV000293967 RCV000348942 RCV000626405 RCV000992502
NM_001122659.3(EDNRB):c.-26G>A	SNV Germline	Chr13:77918599	Conflicting classifications of pathogenicity	not specified Hirschsprung disease, susceptibility to, 2 Waardenburg syndrome type 4A Condition: not provided	Criteria Provided Conflicting Classifications	CA7012417	rs_2070591	5 SubmittersRCV000216068 RCV000490514 RCV000989153 RCV001705184
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	Criteria Provided Multiple Submitters No Conflicts	CA10576591	rs_876657717	3 SubmittersRCV000216335 RCV001092432
NM_001354604.2(MITF):c.355-8A>G	SNV Germline	Chr3:69937814	Conflicting classifications of pathogenicity	not specified Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A Tietz syndrome	Criteria Provided Conflicting Classifications	CA10576631	rs_876657867	2 SubmittersRCV000219040 RCV003765393
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)	SNV Germline	Chr3:69959370	Pathogenic	Rare genetic deafness Waardenburg syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA10576634	rs_876657699	2 SubmittersRCV000218716 RCV001290157
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_001354604.2(MITF):c.1179+5G>A	SNV Germline	Chr3:69959425	Conflicting classifications of pathogenicity	not specified Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Conflicting Classifications	CA10586874	rs_554738793	2 SubmittersRCV000253920 RCV002519876
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	4 SubmittersRCV000315662 RCV000660215
NM_181458.4(PAX3):c.812G>A (p.Arg271His)	SNV Germline	Chr2:222221368	Pathogenic	Condition: not provided Waardenburg syndrome type 1 Alveolar rhabdomyosarcoma Waardenburg syndrome type 1 Craniofacial-deafness-hand syndrome Waardenburg syndrome type 3	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 not specified Hearing impairment Condition: not provided	Criteria Provided Conflicting Classifications	CA2135497	rs_200701839	5 SubmittersRCV000288552 RCV000382870 RCV001195199 RCV001375455 RCV001545472
NM_001354604.2(MITF):c.505A>G (p.Met169Val)	SNV Germline	Chr3:69937972	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 MITF-related disorder	Criteria Provided Conflicting Classifications	CA2490366	rs_143224466	4 SubmittersRCV000288018 RCV000347693 RCV001568741 RCV002520178 RCV003422332
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)	SNV Germline	Chr3:69964947	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A not specified Condition: not provided Hereditary cancer-predisposing syndrome Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 MITF-related disorder	Criteria Provided Conflicting Classifications	CA2490635	rs_2055006	10 SubmittersRCV000277062 RCV000325041 RCV000615223 RCV000883708 RCV002255371 RCV002520183 RCV003922521
NM_001354604.2(MITF):c.1031+15G>A	SNV Germline	Chr3:69956545	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A Tietz syndrome not specified	Criteria Provided Conflicting Classifications	CA2490535	rs_144757214	3 SubmittersRCV000305388 RCV000353241 RCV002520180 RCV002268038
NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala)	SNV Germline	Chr3:69964889	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2490626	rs_199992377	3 SubmittersRCV000273610 RCV000356640 RCV002520181 RCV004021928
NM_001354604.2(MITF):c.644A>T (p.His215Leu)	SNV Germline	Chr3:69939159	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2A Tietz syndrome Condition: not provided Hereditary cancer-predisposing syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A Tietz syndrome	Criteria Provided Conflicting Classifications	CA2490409	rs_761038653	4 SubmittersRCV000283175 RCV000405002 RCV000977275 RCV002257652 RCV002520179
NM_001354604.2(MITF):c.*1570C>T	SNV Germline	Chr3:69966818	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2A Tietz syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10619460	rs_528276006	2 SubmittersRCV000297906 RCV000404341 RCV002292536
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)	SNV Germline	Chr20:59301650	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 4 Waardenburg syndrome type 4B EDN3-related disorder	Criteria Provided Conflicting Classifications	CA9930322	rs_745795470	4 SubmittersRCV000383770 RCV000659492 RCV003912427
NM_006941.4(SOX10):c.753G>A (p.Ser251=)	SNV Germline	Chr22:37974143	Conflicting classifications of pathogenicity	Waardenburg syndrome PCWH syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10228593	rs_376907937	6 SubmittersRCV000289683 RCV000328321 RCV000616999 RCV000728071
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)	SNV Germline	Chr3:69959325	Pathogenic/Likely pathogenic	Condition: not provided Congenital sensorineural hearing impairment Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A Tietz syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042481	rs_1057517966	6 SubmittersRCV000413197 RCV000721949 RCV000626399 RCV003766148
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys)	SNV Unknown	Chr3:69949082	Likely pathogenic	Waardenburg syndrome	No Assertion Criteria Provided	CA16043400	rs_1057518765	1 SubmittersRCV000415280
NM_006941.4(SOX10):c.316C>G (p.Arg106Gly)	SNV Germline	Chr22:37983469	Likely pathogenic	Waardenburg syndrome type 2E	No Assertion Criteria Provided	CA16043702	rs_1057518656	1 SubmittersRCV000415328
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)	SNV Germline	Chr3:69951870	Pathogenic	Waardenburg syndrome type 2A Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	No Assertion Criteria Provided	CA16044010	rs_1057519325	1 SubmittersRCV000416300 RCV000416286
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly)	SNV Germline	Chr3:69956469	Pathogenic	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Waardenburg syndrome type 2A	No Assertion Criteria Provided	CA16044011	rs_1057519326	1 SubmittersRCV000416308 RCV000416288
NM_001354604.2(MITF):c.956-1G>A	SNV Germline	Chr3:69956454	Pathogenic	Waardenburg syndrome type 2A Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts	CA16044012	rs_1057519327	3 SubmittersRCV000416310 RCV000416298 RCV003766173
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)	SNV Germline	Chr3:69964897	Pathogenic/Likely pathogenic	Condition: not provided Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A Waardenburg syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA16604634	rs_1057521096	5 SubmittersRCV000442415 RCV001290159 RCV003766234 RCV003987532
NM_001354604.2(MITF):c.958G>C (p.Glu320Gln)	SNV Germline	Chr3:69956457	Conflicting classifications of pathogenicity	Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Conflicting Classifications	CA16605010	rs_1057522775	2 SubmittersRCV000424648 RCV003766333
NM_001354604.2(MITF):c.1180-2A>G	SNV Germline	Chr3:69964845	Likely pathogenic	Condition: not provided Waardenburg syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621803	rs_1064797294	2 SubmittersRCV000488206 RCV001375177
NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser)	SNV Germline	Chr3:69959395	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2A Tietz syndrome Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Conflicting Classifications	CA2490582	rs_368915509	3 SubmittersRCV001148363 RCV001148364 RCV000523994 RCV003114651
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)	SNV Germline	Chr22:37983654	Conflicting classifications of pathogenicity	not specified Condition: not provided Waardenburg syndrome PCWH syndrome SOX10-related disorder	Criteria Provided Conflicting Classifications	CA10228723	rs_747377284	5 SubmittersRCV000519667 RCV000767097 RCV001149119 RCV001149120 RCV004541634
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	Conflicting classifications of pathogenicity	Waardenburg syndrome type 1 Waardenburg syndrome type 3	Criteria Provided Conflicting Classifications	CA351113735	rs_1419548558	2 SubmittersRCV000626390 RCV002294350
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)	SNV Germline	Chr2:222297157	Pathogenic/Likely pathogenic	Condition: not provided Waardenburg syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA351113733	rs_1419548558	3 SubmittersRCV001853832 RCV000626396
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_001354604.2(MITF):c.649C>T (p.Arg217Ter)	SNV Germline	Chr3:69939164	Pathogenic/Likely pathogenic	Waardenburg syndrome type 2A Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts	CA353560964	rs_1553702006	4 SubmittersRCV000626398 RCV001848977 RCV003767250
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg)	SNV Germline	Chr22:37983382	Likely pathogenic	Waardenburg syndrome type 2A	Criteria Provided Single Submitter	CA411500124	rs_1555939415	1 SubmittersRCV000626402
NM_001354604.2(MITF):c.881-7T>A	SNV Germline	Chr3:69951805	Conflicting classifications of pathogenicity	not specified Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Conflicting Classifications	CA2490505	rs_200580325	5 SubmittersRCV000578647 RCV000767195 RCV002060547
NM_001354604.2(MITF):c.639C>T (p.Asn213=)	SNV Germline	Chr3:69939154	Conflicting classifications of pathogenicity	Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Conflicting Classifications	CA2490408	rs_137944487	4 SubmittersRCV000598184 RCV002532493
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	Criteria Provided Multiple Submitters No Conflicts	CA2135602	rs_772241382	9 SubmittersRCV000599259 RCV001290145 RCV001335583
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter)	SNV Germline	Chr3:69956521	Pathogenic	Condition: not provided Waardenburg syndrome type 2A	Criteria Provided Single Submitter	CA353561834	rs_1553704841	2 SubmittersRCV000599138 RCV001029993
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)	SNV Germline	Chr2:222294213	Conflicting classifications of pathogenicity	not specified Waardenburg syndrome type 3 Craniofacial-deafness-hand syndrome Alveolar rhabdomyosarcoma Waardenburg syndrome type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2135703	rs_200679164	4 SubmittersRCV000601148 RCV000765615 RCV003718260 RCV004024887
NM_181458.4(PAX3):c.958+9G>A	SNV Germline	Chr2:222221213	Conflicting classifications of pathogenicity	not specified Craniofacial-deafness-hand syndrome Waardenburg syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2135544	rs_185119406	3 SubmittersRCV000603902 RCV001136877 RCV001136878 RCV002065193
NM_001354604.2(MITF):c.1179+4C>T	SNV Germline	Chr3:69959424	Conflicting classifications of pathogenicity	not specified Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Melanoma, cutaneous malignant, susceptibility to, 8 MITF-related disorder	Criteria Provided Conflicting Classifications	CA2490590	rs_749869303	6 SubmittersRCV000615376 RCV001591370 RCV002531674 RCV003230270 RCV003965293
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)	SNV Germline	Chr2:222294173	Conflicting classifications of pathogenicity	not specified Craniofacial-deafness-hand syndrome Waardenburg syndrome type 3 Alveolar rhabdomyosarcoma Waardenburg syndrome type 1 Waardenburg syndrome Craniofacial-deafness-hand syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2135687	rs_148454691	5 SubmittersRCV000606544 RCV000765614 RCV001139117 RCV001139116 RCV001770539
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg)	SNV Germline	Chr22:37983361	Pathogenic/Likely pathogenic	Rare genetic deafness Waardenburg syndrome type 2E	Criteria Provided Multiple Submitters No Conflicts	CA411500003	rs_1555939408	2 SubmittersRCV000615378 RCV001290172
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)	SNV Germline	Chr22:37978041	Pathogenic/Likely pathogenic	Inborn genetic diseases Waardenburg syndrome type 2E SOX10-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA411497800	rs_1555938395	3 SubmittersRCV000623200 RCV001290177 RCV002291283
NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)	SNV Germline	Chr22:37983553	Pathogenic	Condition: not provided Waardenburg syndrome type 2E	Criteria Provided Multiple Submitters No Conflicts	CA411501391	rs_1555939491	2 SubmittersRCV000627359 RCV001290166
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	SNV Germline	Chr13:77918517	Pathogenic/Likely pathogenic	Waardenburg syndrome type 4A	No Assertion Criteria Provided		rs_768126403	2 SubmittersRCV000721946
NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter)	SNV Unknown	Chr22:37973727	Pathogenic	Waardenburg syndrome type 2E	No Assertion Criteria Provided		rs_1569167607	1 SubmittersRCV000721948
NM_001354604.2(MITF):c.1031+1G>A	SNV Germline	Chr3:69956531	Pathogenic	Waardenburg syndrome type 2A Waardenburg syndrome type 1 Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts		rs_1559749017	4 SubmittersRCV000721950 RCV000770828 RCV001557795 RCV003767887
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)	SNV Germline	Chr3:69956496	Likely pathogenic	Waardenburg syndrome type 2A MITF-related disorder	Criteria Provided Single Submitter		rs_147682682	2 SubmittersRCV000721951 RCV003411560
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)	SNV Germline	Chr2:222202134	Pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided		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		rs_1559320299	1 SubmittersRCV000721953
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys)	SNV Germline	Chr3:69951856	Likely pathogenic	Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_1553704086	1 SubmittersRCV000656418
NM_001354604.2(MITF):c.355-1062G>C	SNV Germline	Chr3:69936760	Pathogenic/Likely pathogenic	Waardenburg syndrome type 2 Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_1236436555	3 SubmittersRCV000722130 RCV002534250 RCV003155262
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)	SNV Germline	Chr2:222202087	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter		rs_369886550	1 SubmittersRCV000660223
NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)	SNV Germline	Chr2:222220292	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter		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	Criteria Provided Multiple Submitters No Conflicts		rs_1380858784	4 SubmittersRCV000660218 RCV001861717
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)	SNV Germline	Chr2:222221372	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1228590199	3 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		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		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		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		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		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		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		rs_1553593917	1 SubmittersRCV000660203
NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)	SNV Germline	Chr2:222297081	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter		rs_1553593928	1 SubmittersRCV000660201
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)	SNV Germline	Chr2:222297089	Pathogenic/Likely pathogenic	Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1356246522	3 SubmittersRCV000660200 RCV002530563
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		rs_1553594069	2 SubmittersRCV000660198 RCV001861715
NM_001354604.2(MITF):c.669G>A (p.Met223Ile)	SNV Germline	Chr3:69941238	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A MITF-related disorder	Criteria Provided Conflicting Classifications		rs_1032758072	3 SubmittersRCV000659860 RCV003767913 RCV003983159
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)	SNV Germline	Chr3:69951884	Pathogenic/Likely pathogenic	Waardenburg syndrome type 2A Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Multiple Submitters No Conflicts		rs_1553704097	4 SubmittersRCV000659862 RCV002466557 RCV003767914
NM_001354604.2(MITF):c.1031+4A>C	SNV Germline	Chr3:69956534	Likely pathogenic	Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_1553704850	1 SubmittersRCV000659865
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)	SNV Germline	Chr3:69959313	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2A not specified MITF-related disorder	Criteria Provided Conflicting Classifications		rs_1271000541	4 SubmittersRCV000659866 RCV001195616 RCV003411566
NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro)	SNV Germline	Chr13:77903541	Likely pathogenic	Waardenburg syndrome type 4A	Criteria Provided Single Submitter		rs_1555290659	1 SubmittersRCV000659495
NM_207034.3(EDN3):c.334C>A (p.His112Asn)	SNV Germline	Chr20:59301691	Likely pathogenic	Waardenburg syndrome type 4B	Criteria Provided Single Submitter		rs_977075341	1 SubmittersRCV000659493
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)	SNV Germline	Chr22:37973806	Pathogenic	Waardenburg syndrome type 4C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555937400	2 SubmittersRCV000660285 RCV002530565
NM_006941.4(SOX10):c.586G>T (p.Glu196Ter)	SNV Germline	Chr22:37977978	Likely pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_763210407	1 SubmittersRCV000660283
NM_006941.4(SOX10):c.452G>C (p.Arg151Pro)	SNV Germline	Chr22:37978112	Likely pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_1373797370	1 SubmittersRCV000660282
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)	SNV Germline	Chr22:37983359	Likely pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_1555939403	1 SubmittersRCV000660281
NM_006941.4(SOX10):c.364C>G (p.Leu122Val)	SNV Germline	Chr22:37983421	Likely pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_1555939426	1 SubmittersRCV000660279
NM_006941.4(SOX10):c.301A>T (p.Lys101Ter)	SNV Germline	Chr22:37983484	Likely pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_1555939459	1 SubmittersRCV000660277
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)	SNV Germline	Chr22:37983658	Pathogenic	Waardenburg syndrome type 4C Waardenburg syndrome type 2E SOX10-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1555939523	3 SubmittersRCV000660272 RCV001290165 RCV004533451
NM_006941.4(SOX10):c.429-1G>A	SNV Germline	Chr22:37978136	Pathogenic	Waardenburg syndrome type 4A	Criteria Provided Single Submitter		rs_1569169328	1 SubmittersRCV000722042
NM_006941.4(SOX10):c.487C>T (p.Gln163Ter)	SNV Germline	Chr22:37978077	Pathogenic	Waardenburg syndrome type 2E	No Assertion Criteria Provided		rs_1569169289	1 SubmittersRCV000735663
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)	SNV Germline	Chr13:77903538	Conflicting classifications of pathogenicity	Hirschsprung disease, susceptibility to, 2 Hearing loss, autosomal recessive Aganglionosis, total intestinal Hearing impairment Waardenburg syndrome type 4A Condition: not provided	Criteria Provided Conflicting Classifications		rs_781214034	5 SubmittersRCV001112191 RCV001291323 RCV000758016 RCV001809794 RCV002464308
NM_006941.4(SOX10):c.428+2T>C	SNV Germline	Chr22:37983355	Likely pathogenic	Waardenburg syndrome type 2E	No Assertion Criteria Provided		rs_1601886662	1 SubmittersRCV000787014
NM_001354604.2(MITF):c.537C>T (p.Asn179=)	SNV Germline	Chr3:69938004	Conflicting classifications of pathogenicity	not specified Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Conflicting Classifications		rs_150591206	3 SubmittersRCV000825186 RCV002536040 RCV002538208
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)	SNV Germline	Chr3:69959391	Conflicting classifications of pathogenicity	not specified Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Conflicting Classifications		rs_202020443	7 SubmittersRCV000825187 RCV001580031 RCV002538209
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)	SNV Germline	Chr3:69965079	Conflicting classifications of pathogenicity	not specified Condition: not provided MITF-related disorder Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome	Criteria Provided Conflicting Classifications		rs_145325518	4 SubmittersRCV000825959 RCV001550282 RCV003411824 RCV002536069
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)	SNV Unknown	Chr22:37983382	Likely pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1555939415	1 SubmittersRCV001004070
NM_006941.4(SOX10):c.274G>C (p.Val92Leu)	SNV Germline	Chr22:37983511	Conflicting classifications of pathogenicity	PCWH syndrome Hearing impairment Waardenburg syndrome Condition: not provided SOX10-related disorder	Criteria Provided Conflicting Classifications		rs_142113652	6 SubmittersRCV001146314 RCV001375097 RCV001146313 RCV000871484 RCV004540232
NM_006941.4(SOX10):c.918C>T (p.His306=)	SNV Germline	Chr22:37973978	Conflicting classifications of pathogenicity	Condition: not provided Waardenburg syndrome PCWH syndrome	Criteria Provided Conflicting Classifications		rs_200226880	2 SubmittersRCV000908897 RCV001150502 RCV001150503
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		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		rs_747502205	2 SubmittersRCV000915421 RCV001143437 RCV001143438
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)	SNV Germline	Chr22:37983359	Pathogenic	Waardenburg syndrome type 2E	No Assertion Criteria Provided		rs_1555939403	1 SubmittersRCV000985243
NM_181458.4(PAX3):c.239A>G (p.His80Arg)	SNV Unknown	Chr2:222297060	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter		rs_1574771535	1 SubmittersRCV000987040
NM_001354604.2(MITF):c.990C>T (p.Arg330=)	SNV Germline	Chr3:69956489	Conflicting classifications of pathogenicity	Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Conflicting Classifications		rs_147883651	5 SubmittersRCV000992306 RCV001147433 RCV001147434 RCV002549792
NM_006941.4(SOX10):c.768G>A (p.Pro256=)	SNV Germline	Chr22:37974128	Conflicting classifications of pathogenicity	Condition: not provided PCWH syndrome Waardenburg syndrome type 2E Waardenburg syndrome type 4C	Criteria Provided Conflicting Classifications		rs_773109683	3 SubmittersRCV000997919 RCV002481789
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)	SNV Germline	Chr22:37983381	Pathogenic/Likely pathogenic	PCWH syndrome Waardenburg syndrome type 4C	Criteria Provided Multiple Submitters No Conflicts		rs_74315515	2 SubmittersRCV001007915 RCV001262264
NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)	SNV Germline	Chr2:222297172	Pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided		rs_1574772091	1 SubmittersRCV001027516
NM_001354604.2(MITF):c.956-2A>G	SNV Germline	Chr3:69956453	Likely pathogenic	Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Single Submitter		rs_2066399731	1 SubmittersRCV001053671
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)	SNV Germline	Chr22:37983696	Pathogenic	Condition: not provided Hypogonadism with anosmia Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_1932477493	3 SubmittersRCV001092010 RCV001249445 RCV001170068
NM_006941.4(SOX10):c.482G>A (p.Arg161His)	SNV Germline	Chr22:37978082	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2E Condition: not provided	Criteria Provided Conflicting Classifications		rs_750566714	6 SubmittersRCV001095698 RCV001555269
NM_181458.4(PAX3):c.981C>T (p.Thr327=)	SNV Germline	Chr2:222220332	Conflicting classifications of pathogenicity	Waardenburg syndrome Craniofacial-deafness-hand syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_374429328	2 SubmittersRCV001136876 RCV001136875 RCV002070596
NM_001354604.2(MITF):c.531A>G (p.Ala177=)	SNV Germline	Chr3:69937998	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Conflicting Classifications		rs_1193795003	2 SubmittersRCV001149818 RCV001149819 RCV003769716
NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys)	SNV Germline	Chr3:69965063	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Conflicting Classifications		rs_150995386	3 SubmittersRCV001145710 RCV001145709 RCV001574270 RCV002559407
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)	SNV Germline	Chr3:69965184	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Condition: not provided MITF-related disorder	Criteria Provided Conflicting Classifications		rs_548265796	4 SubmittersRCV001145711 RCV001145712 RCV002557119 RCV003130165 RCV003963084
NM_001354604.2(MITF):c.1031+14C>T	SNV Germline	Chr3:69956544	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications		rs_201353723	3 SubmittersRCV001147435 RCV001147436 RCV002557157 RCV003238311
NM_001354604.2(MITF):c.1032-4G>A	SNV Germline	Chr3:69959269	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2A Tietz syndrome Condition: not provided Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 MITF-related disorder	Criteria Provided Conflicting Classifications		rs_199779059	4 SubmittersRCV001147437 RCV001147438 RCV001593292 RCV002557158 RCV003898145
NM_001354604.2(MITF):c.1179+14G>A	SNV Germline	Chr3:69959434	Conflicting classifications of pathogenicity	Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Conflicting Classifications		rs_370391171	2 SubmittersRCV001148366 RCV001148365 RCV003769710
NM_001354604.2(MITF):c.1179+15T>C	SNV Germline	Chr3:69959435	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Conflicting Classifications		rs_748644115	2 SubmittersRCV001149925 RCV001149926 RCV003769717
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)	SNV Germline	Chr22:37978085	Pathogenic	Waardenburg syndrome type 2E Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_1482985217	2 SubmittersRCV001170065 RCV003339524
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)	SNV Germline	Chr2:222297029	Pathogenic/Likely pathogenic	Intellectual disability Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1695336858	2 SubmittersRCV001255326 RCV001253125 RCV003222277
NM_001354604.2(MITF):c.808C>T (p.Leu270=)	SNV Germline	Chr3:69949096	Pathogenic	Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_1439150504	1 SubmittersRCV001253716
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)	SNV Germline	Chr3:69951881	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2A Intellectual disability Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A	Criteria Provided Conflicting Classifications		rs_2066265350	2 SubmittersRCV001262546 RCV001255344 RCV002568750
NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr)	SNV Germline	Chr22:37973815	Conflicting classifications of pathogenicity	Waardenburg syndrome type 4C Condition: not provided	Criteria Provided Conflicting Classifications		rs_770105416	2 SubmittersRCV001262265 RCV002537632
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)	SNV Germline	Chr2:222232115	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter		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		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		rs_1692623308	1 SubmittersRCV001290146
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg)	SNV Germline	Chr2:222297058	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter		rs_483353059	1 SubmittersRCV001290143
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)	SNV Germline	Chr3:69951859	Likely pathogenic	Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_2066264802	2 SubmittersRCV001290151
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)	SNV Germline	Chr3:69959337	Pathogenic	Waardenburg syndrome type 2A Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Multiple Submitters No Conflicts		rs_2066482593	4 SubmittersRCV001290156 RCV001729834 RCV002543007
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)	SNV Germline	Chr3:69964865	Pathogenic	Waardenburg syndrome type 2A Condition: not provided Nonsyndromic genetic hearing loss Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A Tietz syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1464157509	6 SubmittersRCV001290158 RCV001543505 RCV001544533 RCV003770470
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter)	SNV Germline	Chr3:69964940	Pathogenic	Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_149617956	1 SubmittersRCV001290160
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)	SNV Germline	Chr22:37973701	Pathogenic	Waardenburg syndrome type 2E Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1932130190	2 SubmittersRCV001290180 RCV001871731
NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr22:37973833	Pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932137446	1 SubmittersRCV001290179
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter)	SNV Germline	Chr22:37978101	Pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932279377	1 SubmittersRCV001290175
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter)	SNV Germline	Chr22:37978116	Pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932280017	1 SubmittersRCV001290174
NM_006941.4(SOX10):c.428+1G>A	SNV Germline	Chr22:37983356	Pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932460904	1 SubmittersRCV001290173
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro)	SNV Germline	Chr22:37983399	Likely pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932462410	1 SubmittersRCV001290171
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter)	SNV Germline	Chr22:37983444	Pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932463755	1 SubmittersRCV001290170
NM_006941.4(SOX10):c.335T>G (p.Met112Arg)	SNV Germline	Chr22:37983450	Likely pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932463844	1 SubmittersRCV001290169
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser)	SNV Germline	Chr22:37983459	Pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932464388	1 SubmittersRCV001290168
NM_006941.4(SOX10):c.323T>C (p.Met108Thr)	SNV Germline	Chr22:37983462	Conflicting classifications of pathogenicity	Waardenburg syndrome type 2E Condition: not provided SOX10-related disorder	Criteria Provided Conflicting Classifications		rs_1932464492	4 SubmittersRCV001290167 RCV002245947 RCV004528449
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter)	SNV Germline	Chr22:37983778	Pathogenic	Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_1932482365	1 SubmittersRCV001290164
NM_181458.4(PAX3):c.*175C>T	SNV Germline	Chr2:222201233	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter		rs_780660984	1 SubmittersRCV001353097
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)	SNV Germline	Chr3:69959293	Likely pathogenic	Waardenburg syndrome type 2A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2107536936	2 SubmittersRCV001353101 RCV002305603
NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)	SNV Unknown	Chr2:222221351	Pathogenic	Waardenburg syndrome type 3	Criteria Provided Single Submitter		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		rs_1279989885	1 SubmittersRCV001375038
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)	SNV Germline	Chr13:77919598	Conflicting classifications of pathogenicity	Waardenburg syndrome Waardenburg syndrome type 4A EDNRB-related disorder	Criteria Provided Conflicting Classifications		rs_199927859	3 SubmittersRCV001375168 RCV002466671 RCV003898361
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)	SNV Germline	Chr22:37977994	Pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_756120041	1 SubmittersRCV001375372
NM_006941.4(SOX10):c.422T>C (p.Leu141Pro)	SNV Germline	Chr22:37983363	Likely pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided		rs_2145776911	1 SubmittersRCV001775031
NM_006941.4(SOX10):c.336G>A (p.Met112Ile)	SNV Germline	Chr22:37983449	Pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided		rs_2145777042	1 SubmittersRCV001775030
NM_006941.4(SOX10):c.335T>C (p.Met112Thr)	SNV Germline	Chr22:37983450	Likely pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided		rs_1932463844	1 SubmittersRCV001775028
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter)	SNV Germline	Chr22:37978044	Pathogenic	Waardenburg syndrome type 4C Waardenburg syndrome type 2E	Criteria Provided Single Submitter		rs_2145768481	2 SubmittersRCV001822912 RCV002283550
NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter)	SNV Germline	Chr22:37983407	Pathogenic	Waardenburg syndrome type 4C Condition: not provided	Criteria Provided Single Submitter		rs_2145776981	2 SubmittersRCV001822888 RCV002570664
NM_006941.4(SOX10):c.336G>T (p.Met112Ile)	SNV Germline	Chr22:37983449	Likely pathogenic	Waardenburg syndrome type 4C	No Assertion Criteria Provided		rs_2145777042	1 SubmittersRCV001822911
NM_001354604.2(MITF):c.1384G>A (p.Gly462Arg)	SNV Germline	Chr3:69965051	Conflicting classifications of pathogenicity	Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Conflicting Classifications		rs_143537610	3 SubmittersRCV001546273 RCV002291762 RCV002568965
NM_181458.4(PAX3):c.586+2T>A	SNV Germline	Chr2:222294165	Pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter		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		rs_2106203654	1 SubmittersRCV001729951
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)	SNV Germline	Chr3:69959311	Likely pathogenic	Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_2107537096	1 SubmittersRCV001729950
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)	SNV Germline	Chr22:37978116	Pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_1932280017	1 SubmittersRCV001729954
NM_001354604.2(MITF):c.632G>A (p.Gly211Asp)	SNV Germline	Chr3:69939147	Conflicting classifications of pathogenicity	Condition: not provided Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome	Criteria Provided Conflicting Classifications		rs_149249176	2 SubmittersRCV001569413 RCV003771734
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)	SNV Germline	Chr22:37973803	Conflicting classifications of pathogenicity	Condition: not provided Waardenburg syndrome type 2E PCWH syndrome Waardenburg syndrome type 4C	Criteria Provided Conflicting Classifications		rs_748755187	5 SubmittersRCV001572705 RCV002501926
NM_001354604.2(MITF):c.881-6G>A	SNV Germline	Chr3:69951806	Conflicting classifications of pathogenicity	Condition: not provided Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A MITF-related disorder	Criteria Provided Conflicting Classifications		rs_752788538	3 SubmittersRCV001585126 RCV002573331 RCV003948627
NM_001354604.2(MITF):c.955+1G>C	SNV Germline	Chr3:69951887	Pathogenic	Waardenburg syndrome type 2A	No Assertion Criteria Provided		rs_2107519634	1 SubmittersRCV002051746
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		rs_2106203892	2 SubmittersRCV001728007 RCV003660898
NM_001354604.2(MITF):c.1179+6C>T	SNV Germline	Chr3:69959426	Conflicting classifications of pathogenicity	Condition: not provided Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome MITF-related disorder	Criteria Provided Conflicting Classifications		rs_766118369	3 SubmittersRCV001732431 RCV003771886 RCV003948701
NM_001354604.2(MITF):c.471C>T (p.Ser157=)	SNV Germline	Chr3:69937938	Conflicting classifications of pathogenicity	Condition: not provided Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A	Criteria Provided Conflicting Classifications		rs_953396864	2 SubmittersRCV001732705 RCV003771890
NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter)	SNV Germline	Chr3:69959302	Pathogenic	Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Single Submitter		rs_2107537021	1 SubmittersRCV002544262
NM_001354604.2(MITF):c.666+1G>A	SNV Germline	Chr3:69939182	Likely pathogenic	Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_1246772999	1 SubmittersRCV003800513
NM_001354604.2(MITF):c.881-9C>T	SNV Germline	Chr3:69951803	Conflicting classifications of pathogenicity	Condition: not provided Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Conflicting Classifications		rs_766938558	2 SubmittersRCV001799931 RCV002544368
NM_001122659.3(EDNRB):c.801+1G>T	SNV Germline	Chr13:77903155	Likely pathogenic	Waardenburg syndrome type 4A	Criteria Provided Single Submitter		rs_2137610842	1 SubmittersRCV001808120
NM_001122659.3(EDNRB):c.801+2T>C	SNV Germline	Chr13:77903154	Likely pathogenic	Waardenburg syndrome type 4A	Criteria Provided Single Submitter		rs_2137610838	1 SubmittersRCV001809337
NM_001354604.2(MITF):c.583-9T>C	SNV Germline	Chr3:69939089	Conflicting classifications of pathogenicity	not specified Condition: not provided Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8 MITF-related disorder	Criteria Provided Conflicting Classifications		rs_1576007776	4 SubmittersRCV001822563 RCV002274218 RCV003772331 RCV003941164
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)	SNV Germline	Chr22:37978083	Pathogenic/Likely pathogenic	Condition: not provided Deafness with anatomical inner ear anomalies PCWH syndrome Waardenburg syndrome type 2E Waardenburg syndrome type 4C	Criteria Provided Multiple Submitters No Conflicts		rs_2145768544	3 SubmittersRCV001909314 RCV003155439 RCV003328487
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)	SNV Germline	Chr3:69937854	Likely pathogenic	Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_2107478777	1 SubmittersRCV002052091
NM_001354604.2(MITF):c.955+1G>T	SNV Germline	Chr3:69951887	Likely pathogenic	Waardenburg syndrome type 2A	Criteria Provided Single Submitter		rs_2107519634	1 SubmittersRCV002052211
NM_181458.4(PAX3):c.809G>C (p.Arg270Pro)	SNV Germline	Chr2:222221371	Likely pathogenic	Waardenburg syndrome type 1	No Assertion Criteria Provided		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		rs_2106095147	1 SubmittersRCV002246165
NM_006941.4(SOX10):c.610C>T (p.Gln204Ter)	SNV Germline	Chr22:37977954	Likely pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter		rs_2145768136	1 SubmittersRCV002250946
NM_000899.5(KITLG):c.94C>T (p.Arg32Cys)	SNV Germline	Chr12:88545787	Pathogenic	Waardenburg syndrome, IIa 2F	No Assertion Criteria Provided		rs_1870699640	1 SubmittersRCV002260949
NM_000899.5(KITLG):c.443T>C (p.Ile148Thr)	SNV Germline	Chr12:88516411	Pathogenic	Waardenburg syndrome, IIa 2F	No Assertion Criteria Provided		rs_751013211	1 SubmittersRCV002260950
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)	SNV Germline	Chr2:222232182	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002287291
NM_001354604.2(MITF):c.1353G>A (p.Thr451=)	SNV Germline	Chr3:69965020	Conflicting classifications of pathogenicity	Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8 Waardenburg syndrome type 2A Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002619373 RCV003227084
NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)	SNV Germline	Chr3:69949052	Pathogenic	Waardenburg syndrome type 2A Tietz syndrome Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Single Submitter			1 SubmittersRCV002857304
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			2 SubmittersRCV003037060 RCV003493976
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)	SNV Germline	Chr2:222232268	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV003327322
NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)	SNV Germline	Chr22:37983385	Likely pathogenic	Waardenburg syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003405198
NM_006941.4(SOX10):c.341G>C (p.Trp114Ser)	SNV Unknown	Chr22:37983444	Likely pathogenic	Waardenburg syndrome type 4C	Criteria Provided Single Submitter			1 SubmittersRCV003884002
NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)	SNV Germline	Chr2:222295546	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV003445432
NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)	SNV Germline	Chr22:37978052	Likely pathogenic	Waardenburg syndrome type 4C	No Assertion Criteria Provided			1 SubmittersRCV003445440
NM_181458.4(PAX3):c.809G>A (p.Arg270His)	SNV Germline	Chr2:222221371	Likely pathogenic	Waardenburg syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV003448549
NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)	SNV Germline	Chr3:69937907	Pathogenic	Tietz syndrome Waardenburg syndrome type 2A Melanoma, cutaneous malignant, susceptibility to, 8	Criteria Provided Single Submitter			1 SubmittersRCV003804215
NM_001354604.2(MITF):c.762+1G>A	SNV Germline	Chr3:69941332	Likely pathogenic	Melanoma, cutaneous malignant, susceptibility to, 8 Tietz syndrome Waardenburg syndrome type 2A	Criteria Provided Single Submitter			1 SubmittersRCV003801884
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)	SNV Germline	Chr13:77918282	Pathogenic	Waardenburg syndrome type 4A	Criteria Provided Single Submitter			1 SubmittersRCV003989082
NM_001122659.3(EDNRB):c.1085+1G>A	SNV Germline	Chr13:77900520	Likely pathogenic	Waardenburg syndrome type 4A	Criteria Provided Single Submitter			1 SubmittersRCV004556963

SNV
Germline

Chr2:222297150

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

CA253048

rs_104893650

1 SubmittersRCV000004426

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

SNV
Germline

Chr2:222297057

Pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA253049

rs_587776586

2 SubmittersRCV000004430 RCV002512755

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

4 SubmittersRCV000004432 RCV000004433 RCV003555913

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_006941.4(SOX10):c.565G>T (p.Glu189Ter)

SNV
Germline

Chr22:37977999

Pathogenic

Waardenburg syndrome type 4C

No Assertion Criteria Provided

CA118747

rs_74315514

1 SubmittersRCV000007817

NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)

SNV
Germline

Chr22:37983536

Pathogenic

Waardenburg syndrome type 4C

No Assertion Criteria Provided

CA118750

rs_73415876

1 SubmittersRCV000007818

NM_006941.4(SOX10):c.404G>C (p.Ser135Thr)

SNV
Germline

Chr22:37983381

Pathogenic

Waardenburg syndrome type 2E, without neurologic involvement

No Assertion Criteria Provided

CA118757

rs_74315515

1 SubmittersRCV000007821

NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter)

SNV
Germline

Chr22:37977943

Pathogenic

Waardenburg syndrome type 4C

No Assertion Criteria Provided

CA118766

rs_281797260

1 SubmittersRCV000007825

NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)

SNV
Germline

Chr22:37973767

Pathogenic

Waardenburg syndrome type 2E, with neurologic involvement
Waardenburg syndrome type 4C
Condition: not provided

Criteria Provided
Single Submitter

CA118769

rs_74315520

2 SubmittersRCV000007827 RCV000007826 RCV000760372

NM_006941.4(SOX10):c.470C>T (p.Ala157Val)

SNV
Germline

Chr22:37978094

Pathogenic

Waardenburg syndrome type 4C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118779

rs_121909117

3 SubmittersRCV000007833 RCV002273922

NM_006941.4(SOX10):c.698-2A>C

SNV
Germline

Chr22:37974200

Pathogenic

Waardenburg syndrome type 2E, with neurologic involvement

No Assertion Criteria Provided

CA118781

rs_397515370

1 SubmittersRCV000007834

NM_006941.4(SOX10):c.521A>C (p.Gln174Pro)

SNV
Germline

Chr22:37978043

Pathogenic

Waardenburg syndrome type 2E, with neurologic involvement

No Assertion Criteria Provided

CA118782

rs_267607081

1 SubmittersRCV000007835

NM_000248.4(MITF):c.33+1G>A

SNV
Germline

Chr3:69936756

Pathogenic

Waardenburg syndrome type 2A

No Assertion Criteria Provided

CA353560232

rs_1553701477

1 SubmittersRCV000015340

NM_001354604.2(MITF):c.763-2A>C

SNV
Germline

Chr3:69949049

Pathogenic

Waardenburg syndrome type 2A

No Assertion Criteria Provided

CA353561234

rs_1553703612

1 SubmittersRCV000015341

NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro)

SNV
Germline

Chr3:69959310

Pathogenic

Waardenburg syndrome type 2A

No Assertion Criteria Provided

CA123830

rs_104893744

1 SubmittersRCV000015343

NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)

SNV
Germline

Chr3:69956460

Pathogenic

Waardenburg syndrome type 2A
Heterochromia iridis
Poliosis
Prelingual sensorineural hearing impairment
Hearing impairment
Condition: not provided
Ear malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA123834

rs_104893746

8 SubmittersRCV000015346 RCV000415265 RCV000414854 RCV001200166 RCV001813988

NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)

SNV
Germline

Chr13:77901181

Conflicting classifications of pathogenicity

Waardenburg syndrome type 4A
Hirschsprung disease, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA126743

rs_104894387

3 SubmittersRCV000018113 RCV000018112 RCV003236768

NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)

SNV
Germline

Chr13:77903543

Pathogenic

Waardenburg syndrome type 4A

No Assertion Criteria Provided

CA126744

rs_104894388

1 SubmittersRCV000018114

NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)

SNV
Germline

Chr13:77901095

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
not specified
Waardenburg syndrome type 4A
Condition: not provided
Waardenburg syndrome type 2A
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

Criteria Provided
Conflicting Classifications

CA257563

rs_5352

12 SubmittersRCV000018118 RCV000222856 RCV000659497 RCV000954472 RCV000626404 RCV001258252

NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)

SNV
Germline

Chr13:77903200

Pathogenic/Likely pathogenic

Waardenburg syndrome type 4A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA126745

rs_104894390

3 SubmittersRCV000018119 RCV001851902

NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)

SNV
Germline

Chr13:77903356

Pathogenic

ABCD syndrome
Waardenburg syndrome type 4A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA214755

rs_104894391

4 SubmittersRCV000018120 RCV000659496 RCV001092078

NM_207034.3(EDN3):c.476G>T (p.Cys159Phe)

SNV
Germline

Chr20:59321127

Pathogenic

Waardenburg syndrome type 4B

No Assertion Criteria Provided

CA126747

rs_74315384

1 SubmittersRCV000018124

NM_207034.3(EDN3):c.507C>A (p.Cys169Ter)

SNV
Germline

Chr20:59321158

Pathogenic

Waardenburg syndrome type 4B

No Assertion Criteria Provided

CA126750

rs_74315385

1 SubmittersRCV000018129

NM_207034.3(EDN3):c.335A>G (p.His112Arg)

SNV
Germline

Chr20:59301692

Pathogenic

Waardenburg syndrome type 4B

No Assertion Criteria Provided

CA126752

rs_267606778

1 SubmittersRCV000018130

NM_207034.3(EDN3):c.277C>G (p.Arg93Gly)

SNV
Germline

Chr20:59301634

Pathogenic

Waardenburg syndrome type 4B

No Assertion Criteria Provided

CA126754

rs_267606779

1 SubmittersRCV000018131

NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)

SNV
Germline

Chr3:69964940

Pathogenic/Likely pathogenic; risk factor

Melanoma, cutaneous malignant, susceptibility to, 8
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Melanoma
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA128649

rs_149617956

27 SubmittersRCV000022661 RCV000129682 RCV000222278 RCV000484916 RCV000627790 RCV001195106 RCV001535706 RCV002247378 RCV002490402

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_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)

SNV
Germline

Chr21:42388437

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Waardenburg syndrome

Criteria Provided
Conflicting Classifications

CA137714

rs_140614903

6 SubmittersRCV000039355 RCV000730846 RCV001375064

NM_006941.4(SOX10):c.2T>G (p.Met1Arg)

SNV
Germline

Chr22:37983783

Pathogenic

Waardenburg syndrome type 2E, without neurologic involvement

No Assertion Criteria Provided

CA144812

rs_397515457

1 SubmittersRCV000055673

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

8 SubmittersRCV000203286 RCV000213796 RCV000293967 RCV000348942 RCV000626405 RCV000992502

NM_001122659.3(EDNRB):c.-26G>A

SNV
Germline

Chr13:77918599

Conflicting classifications of pathogenicity

not specified
Hirschsprung disease, susceptibility to, 2
Waardenburg syndrome type 4A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7012417

rs_2070591

5 SubmittersRCV000216068 RCV000490514 RCV000989153 RCV001705184

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10576591

rs_876657717

3 SubmittersRCV000216335 RCV001092432

NM_001354604.2(MITF):c.355-8A>G

SNV
Germline

Chr3:69937814

Conflicting classifications of pathogenicity

not specified
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A
Tietz syndrome

Criteria Provided
Conflicting Classifications

CA10576631

rs_876657867

2 SubmittersRCV000219040 RCV003765393

NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)

SNV
Germline

Chr3:69959370

Pathogenic

Rare genetic deafness
Waardenburg syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA10576634

rs_876657699

2 SubmittersRCV000218716 RCV001290157

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_001354604.2(MITF):c.1179+5G>A

SNV
Germline

Chr3:69959425

Conflicting classifications of pathogenicity

not specified
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Conflicting Classifications

CA10586874

rs_554738793

2 SubmittersRCV000253920 RCV002519876

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

4 SubmittersRCV000315662 RCV000660215

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

SNV
Germline

Chr2:222221368

Pathogenic

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

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
not specified
Hearing impairment
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2135497

rs_200701839

5 SubmittersRCV000288552 RCV000382870 RCV001195199 RCV001375455 RCV001545472

NM_001354604.2(MITF):c.505A>G (p.Met169Val)

SNV
Germline

Chr3:69937972

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
MITF-related disorder

Criteria Provided
Conflicting Classifications

CA2490366

rs_143224466

4 SubmittersRCV000288018 RCV000347693 RCV001568741 RCV002520178 RCV003422332

NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)

SNV
Germline

Chr3:69964947

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
MITF-related disorder

Criteria Provided
Conflicting Classifications

CA2490635

rs_2055006

10 SubmittersRCV000277062 RCV000325041 RCV000615223 RCV000883708 RCV002255371 RCV002520183 RCV003922521

NM_001354604.2(MITF):c.1031+15G>A

SNV
Germline

Chr3:69956545

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A
Tietz syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2490535

rs_144757214

3 SubmittersRCV000305388 RCV000353241 RCV002520180 RCV002268038

NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala)

SNV
Germline

Chr3:69964889

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2490626

rs_199992377

3 SubmittersRCV000273610 RCV000356640 RCV002520181 RCV004021928

NM_001354604.2(MITF):c.644A>T (p.His215Leu)

SNV
Germline

Chr3:69939159

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2A
Tietz syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A
Tietz syndrome

Criteria Provided
Conflicting Classifications

CA2490409

rs_761038653

4 SubmittersRCV000283175 RCV000405002 RCV000977275 RCV002257652 RCV002520179

NM_001354604.2(MITF):c.*1570C>T

SNV
Germline

Chr3:69966818

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2A
Tietz syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10619460

rs_528276006

2 SubmittersRCV000297906 RCV000404341 RCV002292536

NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)

SNV
Germline

Chr20:59301650

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 4
Waardenburg syndrome type 4B
EDN3-related disorder

Criteria Provided
Conflicting Classifications

CA9930322

rs_745795470

4 SubmittersRCV000383770 RCV000659492 RCV003912427

NM_006941.4(SOX10):c.753G>A (p.Ser251=)

SNV
Germline

Chr22:37974143

Conflicting classifications of pathogenicity

Waardenburg syndrome
PCWH syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10228593

rs_376907937

6 SubmittersRCV000289683 RCV000328321 RCV000616999 RCV000728071

NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)

SNV
Germline

Chr3:69959325

Pathogenic/Likely pathogenic

Condition: not provided
Congenital sensorineural hearing impairment
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A
Tietz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042481

rs_1057517966

6 SubmittersRCV000413197 RCV000721949 RCV000626399 RCV003766148

NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys)

SNV
Unknown

Chr3:69949082

Likely pathogenic

Waardenburg syndrome

No Assertion Criteria Provided

CA16043400

rs_1057518765

1 SubmittersRCV000415280

NM_006941.4(SOX10):c.316C>G (p.Arg106Gly)

SNV
Germline

Chr22:37983469

Likely pathogenic

Waardenburg syndrome type 2E

No Assertion Criteria Provided

CA16043702

rs_1057518656

1 SubmittersRCV000415328

NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)

SNV
Germline

Chr3:69951870

Pathogenic

Waardenburg syndrome type 2A
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

No Assertion Criteria Provided

CA16044010

rs_1057519325

1 SubmittersRCV000416300 RCV000416286

NM_001354604.2(MITF):c.970A>G (p.Arg324Gly)

SNV
Germline

Chr3:69956469

Pathogenic

Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Waardenburg syndrome type 2A

No Assertion Criteria Provided

CA16044011

rs_1057519326

1 SubmittersRCV000416308 RCV000416288

NM_001354604.2(MITF):c.956-1G>A

SNV
Germline

Chr3:69956454

Pathogenic

Waardenburg syndrome type 2A
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Multiple Submitters
No Conflicts

CA16044012

rs_1057519327

3 SubmittersRCV000416310 RCV000416298 RCV003766173

NM_001354604.2(MITF):c.1230G>A (p.Thr410=)

SNV
Germline

Chr3:69964897

Pathogenic/Likely pathogenic

Condition: not provided
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A
Waardenburg syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16604634

rs_1057521096

5 SubmittersRCV000442415 RCV001290159 RCV003766234 RCV003987532

NM_001354604.2(MITF):c.958G>C (p.Glu320Gln)

SNV
Germline

Chr3:69956457

Conflicting classifications of pathogenicity

Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Conflicting Classifications

CA16605010

rs_1057522775

2 SubmittersRCV000424648 RCV003766333

NM_001354604.2(MITF):c.1180-2A>G

SNV
Germline

Chr3:69964845

Likely pathogenic

Condition: not provided
Waardenburg syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16621803

rs_1064797294

2 SubmittersRCV000488206 RCV001375177

NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser)

SNV
Germline

Chr3:69959395

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2A
Tietz syndrome
Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Conflicting Classifications

CA2490582

rs_368915509

3 SubmittersRCV001148363 RCV001148364 RCV000523994 RCV003114651

NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)

SNV
Germline

Chr22:37983654

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Waardenburg syndrome
PCWH syndrome
SOX10-related disorder

Criteria Provided
Conflicting Classifications

CA10228723

rs_747377284

5 SubmittersRCV000519667 RCV000767097 RCV001149119 RCV001149120 RCV004541634

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

Conflicting classifications of pathogenicity

Waardenburg syndrome type 1
Waardenburg syndrome type 3

Criteria Provided
Conflicting Classifications

CA351113735

rs_1419548558

2 SubmittersRCV000626390 RCV002294350

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

SNV
Germline

Chr2:222297157

Pathogenic/Likely pathogenic

Condition: not provided
Waardenburg syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA351113733

rs_1419548558

3 SubmittersRCV001853832 RCV000626396

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_001354604.2(MITF):c.649C>T (p.Arg217Ter)

SNV
Germline

Chr3:69939164

Pathogenic/Likely pathogenic

Waardenburg syndrome type 2A
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA353560964

rs_1553702006

4 SubmittersRCV000626398 RCV001848977 RCV003767250

NM_006941.4(SOX10):c.403A>C (p.Ser135Arg)

SNV
Germline

Chr22:37983382

Likely pathogenic

Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

CA411500124

rs_1555939415

1 SubmittersRCV000626402

NM_001354604.2(MITF):c.881-7T>A

SNV
Germline

Chr3:69951805

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Conflicting Classifications

CA2490505

rs_200580325

5 SubmittersRCV000578647 RCV000767195 RCV002060547

NM_001354604.2(MITF):c.639C>T (p.Asn213=)

SNV
Germline

Chr3:69939154

Conflicting classifications of pathogenicity

Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Conflicting Classifications

CA2490408

rs_137944487

4 SubmittersRCV000598184 RCV002532493

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2135602

rs_772241382

9 SubmittersRCV000599259 RCV001290145 RCV001335583

NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter)

SNV
Germline

Chr3:69956521

Pathogenic

Condition: not provided
Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

CA353561834

rs_1553704841

2 SubmittersRCV000599138 RCV001029993

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

SNV
Germline

Chr2:222294213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2135703

rs_200679164

4 SubmittersRCV000601148 RCV000765615 RCV003718260 RCV004024887

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

SNV
Germline

Chr2:222221213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2135544

rs_185119406

3 SubmittersRCV000603902 RCV001136877 RCV001136878 RCV002065193

NM_001354604.2(MITF):c.1179+4C>T

SNV
Germline

Chr3:69959424

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Melanoma, cutaneous malignant, susceptibility to, 8
MITF-related disorder

Criteria Provided
Conflicting Classifications

CA2490590

rs_749869303

6 SubmittersRCV000615376 RCV001591370 RCV002531674 RCV003230270 RCV003965293

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

SNV
Germline

Chr2:222294173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2135687

rs_148454691

5 SubmittersRCV000606544 RCV000765614 RCV001139117 RCV001139116 RCV001770539

NM_006941.4(SOX10):c.424T>C (p.Trp142Arg)

SNV
Germline

Chr22:37983361

Pathogenic/Likely pathogenic

Rare genetic deafness
Waardenburg syndrome type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA411500003

rs_1555939408

2 SubmittersRCV000615378 RCV001290172

NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)

SNV
Germline

Chr22:37978041

Pathogenic/Likely pathogenic

Inborn genetic diseases
Waardenburg syndrome type 2E
SOX10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA411497800

rs_1555938395

3 SubmittersRCV000623200 RCV001290177 RCV002291283

NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr22:37983553

Pathogenic

Condition: not provided
Waardenburg syndrome type 2E

Criteria Provided
Multiple Submitters
No Conflicts

CA411501391

rs_1555939491

2 SubmittersRCV000627359 RCV001290166

NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)

SNV
Germline

Chr13:77918517

Pathogenic/Likely pathogenic

Waardenburg syndrome type 4A

No Assertion Criteria Provided

rs_768126403

2 SubmittersRCV000721946

NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter)

SNV
Unknown

Chr22:37973727

Pathogenic

Waardenburg syndrome type 2E

No Assertion Criteria Provided

rs_1569167607

1 SubmittersRCV000721948

NM_001354604.2(MITF):c.1031+1G>A

SNV
Germline

Chr3:69956531

Pathogenic

Waardenburg syndrome type 2A
Waardenburg syndrome type 1
Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559749017

4 SubmittersRCV000721950 RCV000770828 RCV001557795 RCV003767887

NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)

SNV
Germline

Chr3:69956496

Likely pathogenic

Waardenburg syndrome type 2A
MITF-related disorder

Criteria Provided
Single Submitter

rs_147682682

2 SubmittersRCV000721951 RCV003411560

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

SNV
Germline

Chr2:222202134

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

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

rs_1559320299

1 SubmittersRCV000721953

NM_001354604.2(MITF):c.925G>A (p.Glu309Lys)

SNV
Germline

Chr3:69951856

Likely pathogenic

Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_1553704086

1 SubmittersRCV000656418

NM_001354604.2(MITF):c.355-1062G>C

SNV
Germline

Chr3:69936760

Pathogenic/Likely pathogenic

Waardenburg syndrome type 2
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1236436555

3 SubmittersRCV000722130 RCV002534250 RCV003155262

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

SNV
Germline

Chr2:222202087

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

rs_369886550

1 SubmittersRCV000660223

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

SNV
Germline

Chr2:222220292

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1380858784

4 SubmittersRCV000660218 RCV001861717

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

SNV
Germline

Chr2:222221372

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1228590199

3 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

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

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

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

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

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

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

rs_1553593917

1 SubmittersRCV000660203

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

SNV
Germline

Chr2:222297081

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

rs_1553593928

1 SubmittersRCV000660201

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

SNV
Germline

Chr2:222297089

Pathogenic/Likely pathogenic

Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1356246522

3 SubmittersRCV000660200 RCV002530563

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

rs_1553594069

2 SubmittersRCV000660198 RCV001861715

NM_001354604.2(MITF):c.669G>A (p.Met223Ile)

SNV
Germline

Chr3:69941238

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A
MITF-related disorder

Criteria Provided
Conflicting Classifications

rs_1032758072

3 SubmittersRCV000659860 RCV003767913 RCV003983159

NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)

SNV
Germline

Chr3:69951884

Pathogenic/Likely pathogenic

Waardenburg syndrome type 2A
Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553704097

4 SubmittersRCV000659862 RCV002466557 RCV003767914

NM_001354604.2(MITF):c.1031+4A>C

SNV
Germline

Chr3:69956534

Likely pathogenic

Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_1553704850

1 SubmittersRCV000659865

NM_001354604.2(MITF):c.1072G>A (p.Val358Met)

SNV
Germline

Chr3:69959313

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2A
not specified
MITF-related disorder

Criteria Provided
Conflicting Classifications

rs_1271000541

4 SubmittersRCV000659866 RCV001195616 RCV003411566

NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro)

SNV
Germline

Chr13:77903541

Likely pathogenic

Waardenburg syndrome type 4A

Criteria Provided
Single Submitter

rs_1555290659

1 SubmittersRCV000659495

NM_207034.3(EDN3):c.334C>A (p.His112Asn)

SNV
Germline

Chr20:59301691

Likely pathogenic

Waardenburg syndrome type 4B

Criteria Provided
Single Submitter

rs_977075341

1 SubmittersRCV000659493

NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)

SNV
Germline

Chr22:37973806

Pathogenic

Waardenburg syndrome type 4C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555937400

2 SubmittersRCV000660285 RCV002530565

NM_006941.4(SOX10):c.586G>T (p.Glu196Ter)

SNV
Germline

Chr22:37977978

Likely pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_763210407

1 SubmittersRCV000660283

NM_006941.4(SOX10):c.452G>C (p.Arg151Pro)

SNV
Germline

Chr22:37978112

Likely pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_1373797370

1 SubmittersRCV000660282

NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)

SNV
Germline

Chr22:37983359

Likely pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_1555939403

1 SubmittersRCV000660281

NM_006941.4(SOX10):c.364C>G (p.Leu122Val)

SNV
Germline

Chr22:37983421

Likely pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_1555939426

1 SubmittersRCV000660279

NM_006941.4(SOX10):c.301A>T (p.Lys101Ter)

SNV
Germline

Chr22:37983484

Likely pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_1555939459

1 SubmittersRCV000660277

NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)

SNV
Germline

Chr22:37983658

Pathogenic

Waardenburg syndrome type 4C
Waardenburg syndrome type 2E
SOX10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555939523

3 SubmittersRCV000660272 RCV001290165 RCV004533451

NM_006941.4(SOX10):c.429-1G>A

SNV
Germline

Chr22:37978136

Pathogenic

Waardenburg syndrome type 4A

Criteria Provided
Single Submitter

rs_1569169328

1 SubmittersRCV000722042

NM_006941.4(SOX10):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr22:37978077

Pathogenic

Waardenburg syndrome type 2E

No Assertion Criteria Provided

rs_1569169289

1 SubmittersRCV000735663

NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)

SNV
Germline

Chr13:77903538

Conflicting classifications of pathogenicity

Hirschsprung disease, susceptibility to, 2
Hearing loss, autosomal recessive
Aganglionosis, total intestinal
Hearing impairment
Waardenburg syndrome type 4A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781214034

5 SubmittersRCV001112191 RCV001291323 RCV000758016 RCV001809794 RCV002464308

NM_006941.4(SOX10):c.428+2T>C

SNV
Germline

Chr22:37983355

Likely pathogenic

Waardenburg syndrome type 2E

No Assertion Criteria Provided

rs_1601886662

1 SubmittersRCV000787014

NM_001354604.2(MITF):c.537C>T (p.Asn179=)

SNV
Germline

Chr3:69938004

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_150591206

3 SubmittersRCV000825186 RCV002536040 RCV002538208

NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)

SNV
Germline

Chr3:69959391

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Conflicting Classifications

rs_202020443

7 SubmittersRCV000825187 RCV001580031 RCV002538209

NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)

SNV
Germline

Chr3:69965079

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MITF-related disorder
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome

Criteria Provided
Conflicting Classifications

rs_145325518

4 SubmittersRCV000825959 RCV001550282 RCV003411824 RCV002536069

NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)

SNV
Unknown

Chr22:37983382

Likely pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1555939415

1 SubmittersRCV001004070

NM_006941.4(SOX10):c.274G>C (p.Val92Leu)

SNV
Germline

Chr22:37983511

Conflicting classifications of pathogenicity

PCWH syndrome
Hearing impairment
Waardenburg syndrome
Condition: not provided
SOX10-related disorder

Criteria Provided
Conflicting Classifications

rs_142113652

6 SubmittersRCV001146314 RCV001375097 RCV001146313 RCV000871484 RCV004540232

NM_006941.4(SOX10):c.918C>T (p.His306=)

SNV
Germline

Chr22:37973978

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome
PCWH syndrome

Criteria Provided
Conflicting Classifications

rs_200226880

2 SubmittersRCV000908897 RCV001150502 RCV001150503

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

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

rs_747502205

2 SubmittersRCV000915421 RCV001143437 RCV001143438

NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)

SNV
Germline

Chr22:37983359

Pathogenic

Waardenburg syndrome type 2E

No Assertion Criteria Provided

rs_1555939403

1 SubmittersRCV000985243

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

SNV
Unknown

Chr2:222297060

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

rs_1574771535

1 SubmittersRCV000987040

NM_001354604.2(MITF):c.990C>T (p.Arg330=)

SNV
Germline

Chr3:69956489

Conflicting classifications of pathogenicity

Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Conflicting Classifications

rs_147883651

5 SubmittersRCV000992306 RCV001147433 RCV001147434 RCV002549792

NM_006941.4(SOX10):c.768G>A (p.Pro256=)

SNV
Germline

Chr22:37974128

Conflicting classifications of pathogenicity

Condition: not provided
PCWH syndrome
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C

Criteria Provided
Conflicting Classifications

rs_773109683

3 SubmittersRCV000997919 RCV002481789

NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)

SNV
Germline

Chr22:37983381

Pathogenic/Likely pathogenic

PCWH syndrome
Waardenburg syndrome type 4C

Criteria Provided
Multiple Submitters
No Conflicts

rs_74315515

2 SubmittersRCV001007915 RCV001262264

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

SNV
Germline

Chr2:222297172

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

rs_1574772091

1 SubmittersRCV001027516

NM_001354604.2(MITF):c.956-2A>G

SNV
Germline

Chr3:69956453

Likely pathogenic

Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Single Submitter

rs_2066399731

1 SubmittersRCV001053671

NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)

SNV
Germline

Chr22:37983696

Pathogenic

Condition: not provided
Hypogonadism with anosmia
Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_1932477493

3 SubmittersRCV001092010 RCV001249445 RCV001170068

NM_006941.4(SOX10):c.482G>A (p.Arg161His)

SNV
Germline

Chr22:37978082

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2E
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750566714

6 SubmittersRCV001095698 RCV001555269

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

SNV
Germline

Chr2:222220332

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374429328

2 SubmittersRCV001136876 RCV001136875 RCV002070596

NM_001354604.2(MITF):c.531A>G (p.Ala177=)

SNV
Germline

Chr3:69937998

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_1193795003

2 SubmittersRCV001149818 RCV001149819 RCV003769716

NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys)

SNV
Germline

Chr3:69965063

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_150995386

3 SubmittersRCV001145710 RCV001145709 RCV001574270 RCV002559407

NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)

SNV
Germline

Chr3:69965184

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Condition: not provided
MITF-related disorder

Criteria Provided
Conflicting Classifications

rs_548265796

4 SubmittersRCV001145711 RCV001145712 RCV002557119 RCV003130165 RCV003963084

NM_001354604.2(MITF):c.1031+14C>T

SNV
Germline

Chr3:69956544

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201353723

3 SubmittersRCV001147435 RCV001147436 RCV002557157 RCV003238311

NM_001354604.2(MITF):c.1032-4G>A

SNV
Germline

Chr3:69959269

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2A
Tietz syndrome
Condition: not provided
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
MITF-related disorder

Criteria Provided
Conflicting Classifications

rs_199779059

4 SubmittersRCV001147437 RCV001147438 RCV001593292 RCV002557158 RCV003898145

NM_001354604.2(MITF):c.1179+14G>A

SNV
Germline

Chr3:69959434

Conflicting classifications of pathogenicity

Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_370391171

2 SubmittersRCV001148366 RCV001148365 RCV003769710

NM_001354604.2(MITF):c.1179+15T>C

SNV
Germline

Chr3:69959435

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_748644115

2 SubmittersRCV001149925 RCV001149926 RCV003769717

NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)

SNV
Germline

Chr22:37978085

Pathogenic

Waardenburg syndrome type 2E
Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_1482985217

2 SubmittersRCV001170065 RCV003339524

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

SNV
Germline

Chr2:222297029

Pathogenic/Likely pathogenic

Intellectual disability
Waardenburg syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1695336858

2 SubmittersRCV001255326 RCV001253125 RCV003222277

NM_001354604.2(MITF):c.808C>T (p.Leu270=)

SNV
Germline

Chr3:69949096

Pathogenic

Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_1439150504

1 SubmittersRCV001253716

NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)

SNV
Germline

Chr3:69951881

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2A
Intellectual disability
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_2066265350

2 SubmittersRCV001262546 RCV001255344 RCV002568750

NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr)

SNV
Germline

Chr22:37973815

Conflicting classifications of pathogenicity

Waardenburg syndrome type 4C
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770105416

2 SubmittersRCV001262265 RCV002537632

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

SNV
Germline

Chr2:222232115

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

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

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

rs_1692623308

1 SubmittersRCV001290146

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

SNV
Germline

Chr2:222297058

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

rs_483353059

1 SubmittersRCV001290143

NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)

SNV
Germline

Chr3:69951859

Likely pathogenic

Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_2066264802

2 SubmittersRCV001290151

NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)

SNV
Germline

Chr3:69959337

Pathogenic

Waardenburg syndrome type 2A
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2066482593

4 SubmittersRCV001290156 RCV001729834 RCV002543007

NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)

SNV
Germline

Chr3:69964865

Pathogenic

Waardenburg syndrome type 2A
Condition: not provided
Nonsyndromic genetic hearing loss
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A
Tietz syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1464157509

6 SubmittersRCV001290158 RCV001543505 RCV001544533 RCV003770470

NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter)

SNV
Germline

Chr3:69964940

Pathogenic

Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_149617956

1 SubmittersRCV001290160

NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)

SNV
Germline

Chr22:37973701

Pathogenic

Waardenburg syndrome type 2E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1932130190

2 SubmittersRCV001290180 RCV001871731

NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr22:37973833

Pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932137446

1 SubmittersRCV001290179

NM_006941.4(SOX10):c.463G>T (p.Glu155Ter)

SNV
Germline

Chr22:37978101

Pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932279377

1 SubmittersRCV001290175

NM_006941.4(SOX10):c.448A>T (p.Lys150Ter)

SNV
Germline

Chr22:37978116

Pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932280017

1 SubmittersRCV001290174

NM_006941.4(SOX10):c.428+1G>A

SNV
Germline

Chr22:37983356

Pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932460904

1 SubmittersRCV001290173

NM_006941.4(SOX10):c.386T>C (p.Leu129Pro)

SNV
Germline

Chr22:37983399

Likely pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932462410

1 SubmittersRCV001290171

NM_006941.4(SOX10):c.341G>A (p.Trp114Ter)

SNV
Germline

Chr22:37983444

Pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932463755

1 SubmittersRCV001290170

NM_006941.4(SOX10):c.335T>G (p.Met112Arg)

SNV
Germline

Chr22:37983450

Likely pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932463844

1 SubmittersRCV001290169

NM_006941.4(SOX10):c.326A>G (p.Asn109Ser)

SNV
Germline

Chr22:37983459

Pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932464388

1 SubmittersRCV001290168

NM_006941.4(SOX10):c.323T>C (p.Met108Thr)

SNV
Germline

Chr22:37983462

Conflicting classifications of pathogenicity

Waardenburg syndrome type 2E
Condition: not provided
SOX10-related disorder

Criteria Provided
Conflicting Classifications

rs_1932464492

4 SubmittersRCV001290167 RCV002245947 RCV004528449

NM_006941.4(SOX10):c.7G>T (p.Glu3Ter)

SNV
Germline

Chr22:37983778

Pathogenic

Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_1932482365

1 SubmittersRCV001290164

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

SNV
Germline

Chr2:222201233

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

rs_780660984

1 SubmittersRCV001353097

NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)

SNV
Germline

Chr3:69959293

Likely pathogenic

Waardenburg syndrome type 2A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2107536936

2 SubmittersRCV001353101 RCV002305603

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

SNV
Unknown

Chr2:222221351

Pathogenic

Waardenburg syndrome type 3

Criteria Provided
Single Submitter

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

rs_1279989885

1 SubmittersRCV001375038

NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)

SNV
Germline

Chr13:77919598

Conflicting classifications of pathogenicity

Waardenburg syndrome
Waardenburg syndrome type 4A
EDNRB-related disorder

Criteria Provided
Conflicting Classifications

rs_199927859

3 SubmittersRCV001375168 RCV002466671 RCV003898361

NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)

SNV
Germline

Chr22:37977994

Pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_756120041

1 SubmittersRCV001375372

NM_006941.4(SOX10):c.422T>C (p.Leu141Pro)

SNV
Germline

Chr22:37983363

Likely pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

rs_2145776911

1 SubmittersRCV001775031

NM_006941.4(SOX10):c.336G>A (p.Met112Ile)

SNV
Germline

Chr22:37983449

Pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

rs_2145777042

1 SubmittersRCV001775030

NM_006941.4(SOX10):c.335T>C (p.Met112Thr)

SNV
Germline

Chr22:37983450

Likely pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

rs_1932463844

1 SubmittersRCV001775028

NM_006941.4(SOX10):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr22:37978044

Pathogenic

Waardenburg syndrome type 4C
Waardenburg syndrome type 2E

Criteria Provided
Single Submitter

rs_2145768481

2 SubmittersRCV001822912 RCV002283550

NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter)

SNV
Germline

Chr22:37983407

Pathogenic

Waardenburg syndrome type 4C
Condition: not provided

Criteria Provided
Single Submitter

rs_2145776981

2 SubmittersRCV001822888 RCV002570664

NM_006941.4(SOX10):c.336G>T (p.Met112Ile)

SNV
Germline

Chr22:37983449

Likely pathogenic

Waardenburg syndrome type 4C

No Assertion Criteria Provided

rs_2145777042

1 SubmittersRCV001822911

NM_001354604.2(MITF):c.1384G>A (p.Gly462Arg)

SNV
Germline

Chr3:69965051

Conflicting classifications of pathogenicity

Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Conflicting Classifications

rs_143537610

3 SubmittersRCV001546273 RCV002291762 RCV002568965

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

SNV
Germline

Chr2:222294165

Pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

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

rs_2106203654

1 SubmittersRCV001729951

NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)

SNV
Germline

Chr3:69959311

Likely pathogenic

Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_2107537096

1 SubmittersRCV001729950

NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)

SNV
Germline

Chr22:37978116

Pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_1932280017

1 SubmittersRCV001729954

NM_001354604.2(MITF):c.632G>A (p.Gly211Asp)

SNV
Germline

Chr3:69939147

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome

Criteria Provided
Conflicting Classifications

rs_149249176

2 SubmittersRCV001569413 RCV003771734

NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)

SNV
Germline

Chr22:37973803

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome type 2E
PCWH syndrome
Waardenburg syndrome type 4C

Criteria Provided
Conflicting Classifications

rs_748755187

5 SubmittersRCV001572705 RCV002501926

NM_001354604.2(MITF):c.881-6G>A

SNV
Germline

Chr3:69951806

Conflicting classifications of pathogenicity

Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A
MITF-related disorder

Criteria Provided
Conflicting Classifications

rs_752788538

3 SubmittersRCV001585126 RCV002573331 RCV003948627

NM_001354604.2(MITF):c.955+1G>C

SNV
Germline

Chr3:69951887

Pathogenic

Waardenburg syndrome type 2A

No Assertion Criteria Provided

rs_2107519634

1 SubmittersRCV002051746

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

rs_2106203892

2 SubmittersRCV001728007 RCV003660898

NM_001354604.2(MITF):c.1179+6C>T

SNV
Germline

Chr3:69959426

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
MITF-related disorder

Criteria Provided
Conflicting Classifications

rs_766118369

3 SubmittersRCV001732431 RCV003771886 RCV003948701

NM_001354604.2(MITF):c.471C>T (p.Ser157=)

SNV
Germline

Chr3:69937938

Conflicting classifications of pathogenicity

Condition: not provided
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A

Criteria Provided
Conflicting Classifications

rs_953396864

2 SubmittersRCV001732705 RCV003771890

NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter)

SNV
Germline

Chr3:69959302

Pathogenic

Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Single Submitter

rs_2107537021

1 SubmittersRCV002544262

NM_001354604.2(MITF):c.666+1G>A

SNV
Germline

Chr3:69939182

Likely pathogenic

Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_1246772999

1 SubmittersRCV003800513

NM_001354604.2(MITF):c.881-9C>T

SNV
Germline

Chr3:69951803

Conflicting classifications of pathogenicity

Condition: not provided
Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Conflicting Classifications

rs_766938558

2 SubmittersRCV001799931 RCV002544368

NM_001122659.3(EDNRB):c.801+1G>T

SNV
Germline

Chr13:77903155

Likely pathogenic

Waardenburg syndrome type 4A

Criteria Provided
Single Submitter

rs_2137610842

1 SubmittersRCV001808120

NM_001122659.3(EDNRB):c.801+2T>C

SNV
Germline

Chr13:77903154

Likely pathogenic

Waardenburg syndrome type 4A

Criteria Provided
Single Submitter

rs_2137610838

1 SubmittersRCV001809337

NM_001354604.2(MITF):c.583-9T>C

SNV
Germline

Chr3:69939089

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8
MITF-related disorder

Criteria Provided
Conflicting Classifications

rs_1576007776

4 SubmittersRCV001822563 RCV002274218 RCV003772331 RCV003941164

NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)

SNV
Germline

Chr22:37978083

Pathogenic/Likely pathogenic

Condition: not provided
Deafness with anatomical inner ear anomalies
PCWH syndrome
Waardenburg syndrome type 2E
Waardenburg syndrome type 4C

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145768544

3 SubmittersRCV001909314 RCV003155439 RCV003328487

NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)

SNV
Germline

Chr3:69937854

Likely pathogenic

Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_2107478777

1 SubmittersRCV002052091

NM_001354604.2(MITF):c.955+1G>T

SNV
Germline

Chr3:69951887

Likely pathogenic

Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

rs_2107519634

1 SubmittersRCV002052211

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

SNV
Germline

Chr2:222221371

Likely pathogenic

Waardenburg syndrome type 1

No Assertion Criteria Provided

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

rs_2106095147

1 SubmittersRCV002246165

NM_006941.4(SOX10):c.610C>T (p.Gln204Ter)

SNV
Germline

Chr22:37977954

Likely pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

rs_2145768136

1 SubmittersRCV002250946

NM_000899.5(KITLG):c.94C>T (p.Arg32Cys)

SNV
Germline

Chr12:88545787

Pathogenic

Waardenburg syndrome, IIa 2F

No Assertion Criteria Provided

rs_1870699640

1 SubmittersRCV002260949

NM_000899.5(KITLG):c.443T>C (p.Ile148Thr)

SNV
Germline

Chr12:88516411

Pathogenic

Waardenburg syndrome, IIa 2F

No Assertion Criteria Provided

rs_751013211

1 SubmittersRCV002260950

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

SNV
Germline

Chr2:222232182

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002287291

NM_001354604.2(MITF):c.1353G>A (p.Thr451=)

SNV
Germline

Chr3:69965020

Conflicting classifications of pathogenicity

Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Waardenburg syndrome type 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002619373 RCV003227084

NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)

SNV
Germline

Chr3:69949052

Pathogenic

Waardenburg syndrome type 2A
Tietz syndrome
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Single Submitter

1 SubmittersRCV002857304

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

2 SubmittersRCV003037060 RCV003493976

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

SNV
Germline

Chr2:222232268

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003327322

NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)

SNV
Germline

Chr22:37983385

Likely pathogenic

Waardenburg syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003405198

NM_006941.4(SOX10):c.341G>C (p.Trp114Ser)

SNV
Unknown

Chr22:37983444

Likely pathogenic

Waardenburg syndrome type 4C

Criteria Provided
Single Submitter

1 SubmittersRCV003884002

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

SNV
Germline

Chr2:222295546

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003445432

NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)

SNV
Germline

Chr22:37978052

Likely pathogenic

Waardenburg syndrome type 4C

No Assertion Criteria Provided

1 SubmittersRCV003445440

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

SNV
Germline

Chr2:222221371

Likely pathogenic

Waardenburg syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003448549

NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)

SNV
Germline

Chr3:69937907

Pathogenic

Tietz syndrome
Waardenburg syndrome type 2A
Melanoma, cutaneous malignant, susceptibility to, 8

Criteria Provided
Single Submitter

1 SubmittersRCV003804215

NM_001354604.2(MITF):c.762+1G>A

SNV
Germline

Chr3:69941332

Likely pathogenic

Melanoma, cutaneous malignant, susceptibility to, 8
Tietz syndrome
Waardenburg syndrome type 2A

Criteria Provided
Single Submitter

1 SubmittersRCV003801884

NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)

SNV
Germline

Chr13:77918282

Pathogenic

Waardenburg syndrome type 4A

Criteria Provided
Single Submitter

1 SubmittersRCV003989082

NM_001122659.3(EDNRB):c.1085+1G>A

SNV
Germline

Chr13:77900520

Likely pathogenic

Waardenburg syndrome type 4A

Criteria Provided
Single Submitter

1 SubmittersRCV004556963