Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003640.5(ELP1):c.2204+6T>C	SNV Germline	Chr9:108899816	Pathogenic	Familial dysautonomia Condition: not provided Charcot-Marie-Tooth disease not specified Medulloblastoma Primary dysautonomia Ovarian serous cystadenocarcinoma Familial dysautonomia Medulloblastoma Sarcoma	Criteria Provided Multiple Submitters No Conflicts	CA284834	rs_111033171	23 SubmittersRCV000006458 RCV000058928 RCV000789357 RCV004018577 RCV003444194 RCV005357084 RCV005887326 RCV005041994 RCV005887325
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	SNV Germline	Chr9:108900303	Pathogenic/Likely pathogenic	Familial dysautonomia Charcot-Marie-Tooth disease Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA253767	rs_137853022	9 SubmittersRCV000006459 RCV000789660 RCV001380395 RCV002482833
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)	SNV Germline	Chr9:108894062	Likely pathogenic	Familial dysautonomia Charcot-Marie-Tooth disease	Criteria Provided Single Submitter	CA253769	rs_28939712	3 SubmittersRCV000006460 RCV000789661
NM_003640.5(ELP1):c.1230G>A (p.Pro410=)	SNV Germline	Chr9:108911140	Conflicting classifications of pathogenicity	not specified Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA291214	rs_41278359	9 SubmittersRCV000125400 RCV000308481 RCV000857535
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)	SNV Germline	Chr9:108901650	Conflicting classifications of pathogenicity	not specified Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA240882	rs_148378319	10 SubmittersRCV000214808 RCV000316773 RCV000724344
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)	SNV Germline	Chr9:108882130	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174360	rs_146440397	10 SubmittersRCV000659118 RCV001166178 RCV004020903
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)	SNV Germline	Chr9:108893978	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma not specified	Criteria Provided Conflicting Classifications	CA5174526	rs_149845612	12 SubmittersRCV000757401 RCV001166669 RCV002291611 RCV004020902
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)	SNV Germline	Chr9:108908401	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma not specified ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5175034	rs_149685738	7 SubmittersRCV000227222 RCV001276239 RCV003230264 RCV004020906 RCV004751397
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)	SNV Germline	Chr9:108929864	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175431	rs_3737311	6 SubmittersRCV000278649 RCV000287654 RCV004021176
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)	SNV Germline	Chr9:108879544	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided ELP1-related disorder not specified	Criteria Provided Conflicting Classifications	CA5174285	rs_146956297	7 SubmittersRCV000384366 RCV000863170 RCV003922638 RCV004022092
NM_003640.5(ELP1):c.3222+14C>T	SNV Germline	Chr9:108889318	Conflicting classifications of pathogenicity	Familial dysautonomia not specified Condition: not provided ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5174381	rs_374787755	6 SubmittersRCV000377567 RCV000432127 RCV001699403 RCV003950291
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)	SNV Germline	Chr9:108901658	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5174858	rs_141596257	5 SubmittersRCV000387658 RCV000858502 RCV003950292
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)	SNV Germline	Chr9:108874957	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174147	rs_145319352	6 SubmittersRCV000355008 RCV000757404 RCV004022089
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)	SNV Germline	Chr9:108894004	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174535	rs_367974002	5 SubmittersRCV000390834 RCV000867149 RCV004022095
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)	SNV Germline	Chr9:108901431	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided Medulloblastoma Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174818	rs_376699949	5 SubmittersRCV000265311 RCV000823514 RCV002488817 RCV005549956
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)	SNV Germline	Chr9:108916239	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided ELP1-related disorder not specified	Criteria Provided Conflicting Classifications	CA5175196	rs_78135392	8 SubmittersRCV000262689 RCV000755553 RCV003932508 RCV006406665
NM_003640.5(ELP1):c.169T>C (p.Leu57=)	SNV Germline	Chr9:108929903	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10628782	rs_886063349	4 SubmittersRCV000339134 RCV002058764 RCV004022104
NM_003640.5(ELP1):c.-155A>T	SNV Germline	Chr9:108933963	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA10628783	rs_117100816	2 SubmittersRCV000356773 RCV003422364
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)	SNV Germline	Chr9:108874950	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided ELP1-related disorder not specified	Criteria Provided Conflicting Classifications	CA5174146	rs_61749202	9 SubmittersRCV000297833 RCV000590763 RCV003970072 RCV006443235
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)	SNV Germline	Chr9:108879505	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174275	rs_199617076	4 SubmittersRCV000274649 RCV000869320 RCV004022091
NM_003640.5(ELP1):c.1911T>C (p.Val637=)	SNV Germline	Chr9:108901528	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174837	rs_369645371	9 SubmittersRCV000278309 RCV001450077 RCV004022098
NM_003640.5(ELP1):c.304-5C>T	SNV Germline	Chr9:108927458	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5175398	rs_370384351	2 SubmittersRCV000327469 RCV000858401
NM_003640.5(ELP1):c.209G>A (p.Arg70His)	SNV Germline	Chr9:108929863	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided Hereditary sensory and autonomic neuropathy ELP1-related disorder	Criteria Provided Conflicting Classifications	CA5175430	rs_111936933	6 SubmittersRCV000384303 RCV000858275 RCV001271221 RCV003922639
NM_003640.5(ELP1):c.3931+14C>G	SNV Germline	Chr9:108874881	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA10632209	rs_555520875	3 SubmittersRCV000406241 RCV002061308
NM_003640.5(ELP1):c.2958+10A>T	SNV Germline	Chr9:108892976	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174489	rs_768709875	2 SubmittersRCV000298453 RCV001451072
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)	SNV Germline	Chr9:108896634	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174574	rs_773218149	5 SubmittersRCV000312657 RCV001459462 RCV004022096
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)	SNV Germline	Chr9:108897279	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174662	rs_772114554	4 SubmittersRCV000324095 RCV001417884 RCV004022097
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)	SNV Germline	Chr9:108916215	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided Medulloblastoma Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175187	rs_374814563	7 SubmittersRCV000302687 RCV000493897 RCV002488820 RCV003330656
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)	SNV Germline	Chr9:108929869	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5175432	rs_143723093	4 SubmittersRCV000345015 RCV000863374 RCV004022103
NM_003640.5(ELP1):c.2860+2T>C	SNV Germline	Chr9:108893941	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA5174517	rs_754348901	2 SubmittersRCV000409912 RCV001865258
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)	SNV Unknown	Chr9:108893986	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA5174529	rs_749052963	1 SubmittersRCV000410939
NM_003640.5(ELP1):c.2204+1G>A	SNV Germline	Chr9:108899821	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA16041295	rs_1057517169	2 SubmittersRCV000409095
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)	SNV Germline	Chr9:108911157	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary sensory and autonomic neuropathy Familial dysautonomia ELP1-Associated Medulloblastoma	Criteria Provided Conflicting Classifications	CA5175080	rs_139703788	8 SubmittersRCV000630703 RCV000780354 RCV001276240 RCV001168463 RCV006554518
NM_003640.5(ELP1):c.3347-15A>G	SNV Germline	Chr9:108880180	Conflicting classifications of pathogenicity	not specified Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174326	rs_200154542	6 SubmittersRCV000434445 RCV001166177 RCV001701004
NM_003640.5(ELP1):c.3346+7G>T	SNV Germline	Chr9:108881698	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial dysautonomia Medulloblastoma Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174338	rs_144631706	5 SubmittersRCV000430439 RCV000867472 RCV001275743 RCV005044639
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)	SNV Germline	Chr9:108897213	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174646	rs_113967847	5 SubmittersRCV000828356 RCV001169158 RCV005328295
NM_003640.5(ELP1):c.948G>A (p.Pro316=)	SNV Germline	Chr9:108916214	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175186	rs_148917889	9 SubmittersRCV000529925 RCV001168466 RCV004023742
NM_003640.5(ELP1):c.650-6G>A	SNV Germline	Chr9:108918907	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175273	rs_571466270	4 SubmittersRCV000530797 RCV001271216 RCV004023741
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)	SNV Germline	Chr9:108903609	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174925	rs_138192941	7 SubmittersRCV000592752 RCV000726723 RCV001166745
NM_003640.5(ELP1):c.1461-2A>G	SNV Germline	Chr9:108906487	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma ELP1-Associated Medulloblastoma	Criteria Provided Conflicting Classifications	CA197540498	rs_866046915	8 SubmittersRCV000596965 RCV000668028 RCV003989567 RCV006554560
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)	SNV Germline	Chr9:108898737	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174728	rs_139583037	4 SubmittersRCV000593304 RCV001276229 RCV004024769
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)	SNV Germline	Chr9:108927445	Pathogenic/Likely pathogenic	Condition: not provided ELP1-related disorder Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374392175	rs_1291760879	5 SubmittersRCV000596363 RCV003403403 RCV005055127
NM_003640.5(ELP1):c.3573-7C>G	SNV Germline	Chr9:108878757	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174241	rs_370571926	4 SubmittersRCV000630701 RCV000859237
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp)	SNV Germline	Chr9:108889341	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified Medulloblastoma Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174389	rs_140024352	7 SubmittersRCV000630694 RCV001201381 RCV004025387 RCV005049622
NM_003640.5(ELP1):c.3285+2T>C	SNV Germline	Chr9:108882123	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374413406	rs_1554692181	1 SubmittersRCV001378358
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)	SNV Germline	Chr9:108912414	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175144	rs_748458910	3 SubmittersRCV000630680 RCV001276242 RCV004025383
NM_003640.5(ELP1):c.606G>T (p.Gly202=)	SNV Germline	Chr9:108919296	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5175297	rs_768309637	6 SubmittersRCV000827122 RCV001166286 RCV005562401
NM_003640.5(ELP1):c.2958+1G>C	SNV Germline	Chr9:108892985	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA374418170	rs_1239081703	2 SubmittersRCV000667505 RCV001855481
NM_003640.5(ELP1):c.2014+1G>A	SNV Unknown	Chr9:108901424	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374423879	rs_1554696574	1 SubmittersRCV000672450
NM_003640.5(ELP1):c.1461-1G>T	SNV Unknown	Chr9:108906486	Likely pathogenic	Familial dysautonomia Familial dysautonomia Medulloblastoma	Criteria Provided Single Submitter	CA374427750	rs_539544212	2 SubmittersRCV000667416 RCV002493094
NM_003640.5(ELP1):c.1461-1G>A	SNV Germline	Chr9:108906486	Likely pathogenic	Familial dysautonomia Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA5174997	rs_539544212	3 SubmittersRCV000672968 RCV002532138 RCV005049651
NM_003640.5(ELP1):c.1360+1G>T	SNV Germline	Chr9:108911009	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA374428559	rs_1201626345	2 SubmittersRCV000668411 RCV003546586
NM_003640.5(ELP1):c.385+1G>A	SNV Germline	Chr9:108927371	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA374391654	rs_1554703061	3 SubmittersRCV000674490 RCV001378198
NM_003640.5(ELP1):c.151-1G>T	SNV Unknown	Chr9:108929922	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374394540	rs_1554703613	1 SubmittersRCV000674659
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)	SNV Germline	Chr9:108931068	Pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA5175472	rs_868073099	2 SubmittersRCV000667419 RCV001855480
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)	SNV Germline	Chr9:108931143	Pathogenic/Likely pathogenic	Familial dysautonomia Condition: not provided Medulloblastoma Medulloblastoma Familial dysautonomia ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA197531800	rs_926177767	7 SubmittersRCV000667461 RCV001204091 RCV003325211 RCV005046868 RCV006554570
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)	SNV Germline	Chr9:108878731	Pathogenic/Likely pathogenic	Familial dysautonomia Condition: not provided Familial dysautonomia Medulloblastoma ELP1-related disorder ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA5174237	rs_376078668	8 SubmittersRCV000668488 RCV001071602 RCV002499163 RCV003411577 RCV006554571
NM_003640.5(ELP1):c.2587+2T>G	SNV Germline	Chr9:108896951	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA374420272	rs_1554695299	2 SubmittersRCV000667504 RCV003546585
NM_003640.5(ELP1):c.1908+2T>A	SNV Unknown	Chr9:108901626	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374424684	rs_1554696648	1 SubmittersRCV000667502
NM_003640.5(ELP1):c.1854+1G>A	SNV Germline	Chr9:108902838	Likely pathogenic	Familial dysautonomia Familial dysautonomia Medulloblastoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374425427	rs_1554696934	3 SubmittersRCV000674672 RCV002499191 RCV002544672
NM_003640.5(ELP1):c.1189+1G>A	SNV Unknown	Chr9:108912263	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374429227	rs_1554699327	1 SubmittersRCV000667471
NM_003640.5(ELP1):c.151-1G>A	SNV Germline	Chr9:108929922	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA374394545	rs_1554703613	2 SubmittersRCV000668015 RCV003708547
NM_003640.5(ELP1):c.3701-1G>A	SNV Germline	Chr9:108878150	Likely pathogenic	Familial dysautonomia Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374410866	rs_1554691572	3 SubmittersRCV000667528 RCV003767957 RCV005046871
NM_003640.5(ELP1):c.2205-1G>C	SNV Germline	Chr9:108898750	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA374422293	rs_1554695846	2 SubmittersRCV000667498 RCV001861759
NM_003640.5(ELP1):c.1751-2A>T	SNV Unknown	Chr9:108902944	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374425888	rs_1554697001	1 SubmittersRCV000674829
NM_003640.5(ELP1):c.1750+1G>T	SNV Unknown	Chr9:108903562	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374425893	rs_770668926	1 SubmittersRCV000673955
NM_003640.5(ELP1):c.552+2T>A	SNV Germline	Chr9:108922840	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA374389068	rs_1554702142	3 SubmittersRCV000667989 RCV001216024
NM_003640.5(ELP1):c.552+1G>T	SNV Germline	Chr9:108922841	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA5175328	rs_765572951	2 SubmittersRCV000673191 RCV003768003
NM_003640.5(ELP1):c.386-2A>C	SNV Unknown	Chr9:108926605	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374391512	rs_1554702880	1 SubmittersRCV000668110
NM_003640.5(ELP1):c.150+1G>A	SNV Unknown	Chr9:108930996	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374394676	rs_1554703831	1 SubmittersRCV000669523
NM_003640.5(ELP1):c.3701-6C>G	SNV Germline	Chr9:108878155	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified Cervical cancer	Criteria Provided Conflicting Classifications	CA5174204	rs_148535504	5 SubmittersRCV000664986 RCV001391327 RCV004026077 RCV005901436
NM_003640.5(ELP1):c.3346+1G>A	SNV Germline	Chr9:108881704	Likely pathogenic	Familial dysautonomia Condition: not provided	Criteria Provided Single Submitter	CA5174340	rs_760774999	3 SubmittersRCV000669335 RCV001056423
NM_003640.5(ELP1):c.304-2A>G	SNV Germline	Chr9:108927455	Likely pathogenic	Familial dysautonomia Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA5175396	rs_757972943	4 SubmittersRCV000667469 RCV001379354 RCV002485537
NM_003640.5(ELP1):c.1A>T (p.Met1Leu)	SNV Unknown	Chr9:108931146	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided	CA374395541	rs_1554703907	1 SubmittersRCV000667495
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter)	SNV Germline	Chr9:108897035	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374420808	rs_1564084140	1 SubmittersRCV001380960
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)	SNV Germline	Chr9:108902925	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174904	rs_369856286	4 SubmittersRCV000698326 RCV001835923 RCV004026442
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)	SNV Germline	Chr9:108906409	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA197540437	rs_201706900	3 SubmittersRCV000700992 RCV001276237 RCV005328361
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)	SNV Germline	Chr9:108881726	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided Familial dysautonomia Medulloblastoma not specified	Criteria Provided Conflicting Classifications	CA5174343	rs_761896714	4 SubmittersRCV000702826 RCV002536364 RCV005049666 RCV005550036
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)	SNV Germline	Chr9:108901433	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374423928	rs_1587896788	1 SubmittersRCV001383399
NM_003640.5(ELP1):c.1486C>T (p.Gln496Ter)	SNV Germline	Chr9:108906460	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374427687	rs_749704610	1 SubmittersRCV000791631
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)	SNV Germline	Chr9:108911061	Conflicting classifications of pathogenicity	Familial dysautonomia Medulloblastoma Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5175059	rs_148609833	7 SubmittersRCV000796780 RCV002495051 RCV002534609 RCV004027574
NM_003640.5(ELP1):c.3572+1G>A	SNV Germline	Chr9:108879445	Likely pathogenic	Familial dysautonomia Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA197520261	rs_571348995	4 SubmittersRCV000806459 RCV001377355 RCV005049700
NM_003640.5(ELP1):c.2958+1G>A	SNV Germline	Chr9:108892985	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374418168	rs_1239081703	1 SubmittersRCV000823438
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)	SNV Germline	Chr9:108900364	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174792	rs_537930129	5 SubmittersRCV000863776 RCV001169160 RCV004027602
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)	SNV Germline	Chr9:108894034	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174542	rs_370330097	3 SubmittersRCV000870786 RCV001168404
NM_003640.5(ELP1):c.1914G>A (p.Ala638=)	SNV Germline	Chr9:108901525	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174835	rs_142096497	4 SubmittersRCV000867920 RCV001563846 RCV004027708
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)	SNV Germline	Chr9:108880071	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174311	rs_779796058	3 SubmittersRCV000873503 RCV001169094
NM_003640.5(ELP1):c.717A>C (p.Gly239=)	SNV Germline	Chr9:108918834	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications	CA466668859	rs_1333495798	2 SubmittersRCV000875057 RCV001169196
NM_003640.5(ELP1):c.959-8C>T	SNV Germline	Chr9:108912502	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5175157	rs_766511916	3 SubmittersRCV000936966 RCV001168465
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)	SNV Germline	Chr9:108893979	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia Medulloblastoma not specified ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA5174528	rs_761911009	5 SubmittersRCV001052645 RCV002505601 RCV003444766 RCV004031649 RCV006554605
NM_003640.5(ELP1):c.2268T>A (p.Tyr756Ter)	SNV Germline	Chr9:108898686	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374422068	rs_1828651198	1 SubmittersRCV001040845
NM_003640.5(ELP1):c.3285+1G>C	SNV Germline	Chr9:108882124	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374413413	rs_1287123881	1 SubmittersRCV001034747
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)	SNV Germline	Chr9:108891219	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174428	rs_764867856	2 SubmittersRCV001166667 RCV002067812
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)	SNV Germline	Chr9:108901482	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5174828	rs_542412132	4 SubmittersRCV001166230 RCV001521094 RCV004032885
NM_003640.5(ELP1):c.3572+12A>T	SNV Germline	Chr9:108879434	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA197520229	rs_1055164302	2 SubmittersRCV001169093 RCV002558676
NM_003640.5(ELP1):c.2861-12T>G	SNV Germline	Chr9:108893095	Conflicting classifications of pathogenicity	Familial dysautonomia Medulloblastoma Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174506	rs_746590157	3 SubmittersRCV001166668 RCV002491479 RCV003737014
NM_003640.5(ELP1):c.2502-13C>T	SNV Germline	Chr9:108897051	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5174617	rs_138510668	2 SubmittersRCV001168405 RCV003769820
NM_003640.5(ELP1):c.649+12T>C	SNV Germline	Chr9:108919241	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided	Criteria Provided Conflicting Classifications	CA5175288	rs_375554772	2 SubmittersRCV001169197 RCV002067832
NM_003640.5(ELP1):c.3572+5G>A	SNV Germline	Chr9:108879441	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial dysautonomia Medulloblastoma Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174262	rs_773132143	6 SubmittersRCV001194428 RCV001220783 RCV001833753 RCV002504221
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)	SNV Germline	Chr9:108878060	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374410662	rs_1827767235	3 SubmittersRCV001214239 RCV002290642 RCV002504257
NM_003640.5(ELP1):c.3175C>T (p.Gln1059Ter)	SNV Germline	Chr9:108889379	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374414983	rs_1828239449	1 SubmittersRCV001217430
NM_003640.5(ELP1):c.671G>A (p.Trp224Ter)	SNV Germline	Chr9:108918880	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374387018	rs_1829544561	1 SubmittersRCV001210278
NM_003640.5(ELP1):c.2015-2A>G	SNV Germline	Chr9:108900377	Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Single Submitter	CA374423584	rs_1828729991	2 SubmittersRCV001213501 RCV005614497
NM_003640.5(ELP1):c.1754C>A (p.Ser585Ter)	SNV Germline	Chr9:108902939	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374425875	rs_1828866977	1 SubmittersRCV001228339
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)	SNV Germline	Chr9:108903578	Conflicting classifications of pathogenicity	Condition: not provided Medulloblastoma Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA5174920	rs_199555804	3 SubmittersRCV001239109 RCV002499392 RCV004907690
NM_003640.5(ELP1):c.3855+1G>T	SNV Germline	Chr9:108877994	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374410515	rs_1827764134	1 SubmittersRCV001229293
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)	SNV Germline	Chr9:108897275	Conflicting classifications of pathogenicity	Familial dysautonomia Condition: not provided Familial dysautonomia Medulloblastoma not specified	Criteria Provided Conflicting Classifications	CA197533297	rs_546587836	4 SubmittersRCV001278709 RCV002541690 RCV002480903 RCV004035474
NM_003640.5(ELP1):c.581A>G (p.His194Arg)	SNV Germline	Chr9:108919321	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia not specified	Criteria Provided Conflicting Classifications	CA374388535	rs_1682473914	3 SubmittersRCV001317856 RCV001835581 RCV006406901
NM_003640.5(ELP1):c.3855+2T>G	SNV Germline	Chr9:108877993	Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374410514	rs_2118933859	3 SubmittersRCV001379773 RCV001826155
NM_003640.5(ELP1):c.3460+1G>A	SNV Germline	Chr9:108880051	Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374412063	rs_1478450302	3 SubmittersRCV001378128 RCV001826136 RCV005050363
NM_003640.5(ELP1):c.1909-2A>C	SNV Germline	Chr9:108901532	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374424650	rs_2131992124	1 SubmittersRCV001377739
NM_003640.5(ELP1):c.1460+1G>A	SNV Germline	Chr9:108908304	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374428183	rs_1564093439	1 SubmittersRCV001377018
NM_003640.5(ELP1):c.959-1G>A	SNV Germline	Chr9:108912495	Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Single Submitter	CA374429725	rs_2132017099	2 SubmittersRCV001378603 RCV001826143
NM_003640.5(ELP1):c.3424C>T (p.Arg1142Ter)	SNV Germline	Chr9:108880088	Pathogenic/Likely pathogenic	Condition: not provided ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA5174313	rs_768015419	2 SubmittersRCV001387809 RCV006554621
NM_003640.5(ELP1):c.2859T>A (p.Cys953Ter)	SNV Germline	Chr9:108893944	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374418715	rs_762459906	1 SubmittersRCV001384153
NM_003640.5(ELP1):c.2642T>A (p.Leu881Ter)	SNV Germline	Chr9:108896590	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374420002	rs_2131980225	1 SubmittersRCV001381561
NM_003640.5(ELP1):c.1339C>T (p.Gln447Ter)	SNV Germline	Chr9:108911031	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374428609	rs_1271784136	1 SubmittersRCV001391031
NM_003640.5(ELP1):c.990G>A (p.Trp330Ter)	SNV Germline	Chr9:108912463	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374429651	rs_1829265811	1 SubmittersRCV001383788
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)	SNV Germline	Chr9:108918814	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma Familial dysautonomia ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374386655	rs_1317221906	4 SubmittersRCV001388056 RCV004017831 RCV005040263 RCV006554622
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)	SNV Germline	Chr9:108919330	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374388632	rs_1829561209	2 SubmittersRCV001381430 RCV002282535
NM_003640.5(ELP1):c.307G>T (p.Glu103Ter)	SNV Germline	Chr9:108927450	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374392194	rs_2132045613	2 SubmittersRCV001387861 RCV005040262
NM_003640.5(ELP1):c.64C>T (p.Gln22Ter)	SNV Germline	Chr9:108931083	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374395082	rs_2132052954	1 SubmittersRCV001383278
NM_003640.5(ELP1):c.3461-8T>C	SNV Germline	Chr9:108879565	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Conflicting Classifications	CA5174288	rs_778083125	2 SubmittersRCV001429967 RCV005040280
NM_003640.5(ELP1):c.2205-9T>G	SNV Germline	Chr9:108898758	Conflicting classifications of pathogenicity	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174732	rs_762448047	2 SubmittersRCV001503645 RCV005050384
NM_003640.5(ELP1):c.312T>C (p.Cys104=)	SNV Germline	Chr9:108927445	Pathogenic	Medulloblastoma	No Assertion Criteria Provided	CA466671824	rs_1291760879	1 SubmittersRCV001730182
NM_003640.5(ELP1):c.93G>T (p.Gly31=)	SNV Germline	Chr9:108931054	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma Medulloblastoma	Criteria Provided Conflicting Classifications	CA5175468	rs_778404648	4 SubmittersRCV001816511 RCV005040393 RCV005055174
NM_003640.5(ELP1):c.3573-1G>A	SNV Germline	Chr9:108878751	Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Single Submitter	CA374411491	rs_2118936334	2 SubmittersRCV001977997 RCV005614744
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)	SNV Germline	Chr9:108898570	Conflicting classifications of pathogenicity	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Conflicting Classifications	CA5174698	rs_137874743	2 SubmittersRCV001934243 RCV002484686
NM_003640.5(ELP1):c.3161-2A>G	SNV Germline	Chr9:108889395	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5174398	rs_749548287	1 SubmittersRCV002030967
NM_003640.5(ELP1):c.1289T>A (p.Leu430Ter)	SNV Germline	Chr9:108911081	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374428723	rs_2132013740	1 SubmittersRCV001905753
NM_003640.5(ELP1):c.3688G>T (p.Glu1230Ter)	SNV Germline	Chr9:108878635	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374411163	rs_764936574	1 SubmittersRCV001929541
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)	SNV Germline	Chr9:108878728	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA5174234	rs_762224071	2 SubmittersRCV001960589 RCV002492122
NM_003640.5(ELP1):c.1644-1G>T	SNV Germline	Chr9:108903670	Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374426155	rs_1451406050	2 SubmittersRCV001967024 RCV006458829
NM_003640.5(ELP1):c.1052G>A (p.Trp351Ter)	SNV Germline	Chr9:108912401	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374429515	rs_2132016798	1 SubmittersRCV001972634
NM_003640.5(ELP1):c.2363+14A>G	SNV Germline	Chr9:108898488	Conflicting classifications of pathogenicity	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Conflicting Classifications	CA2573143762	rs_2131984488	2 SubmittersRCV002030301 RCV005042644
NM_003640.5(ELP1):c.2501+1G>A	SNV Germline	Chr9:108897147	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374420882	rs_2131981589	1 SubmittersRCV002046994
NM_003640.5(ELP1):c.1190-1G>C	SNV Germline	Chr9:108911181	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374429218	rs_2132014128	1 SubmittersRCV002041090
NM_003640.5(ELP1):c.3822G>A (p.Trp1274Ter)	SNV Germline	Chr9:108878028	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5174182	rs_543759021	1 SubmittersRCV001895022
NM_003640.5(ELP1):c.3286-1G>T	SNV Germline	Chr9:108881766	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374413345	rs_1159691474	1 SubmittersRCV002006910
NM_003640.5(ELP1):c.969G>A (p.Trp323Ter)	SNV Germline	Chr9:108912484	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374429698	rs_1829266738	1 SubmittersRCV001994751
NM_003640.5(ELP1):c.3291C>G (p.Tyr1097Ter)	SNV Germline	Chr9:108881760	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA197522215	rs_924743948	1 SubmittersRCV002000063
NM_003640.5(ELP1):c.649+1G>A	SNV Germline	Chr9:108919252	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374387252	rs_1564102412	1 SubmittersRCV002018798
NM_003640.5(ELP1):c.3160+1G>T	SNV Germline	Chr9:108891202	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374415986	rs_2131969608	1 SubmittersRCV001971783
NM_003640.5(ELP1):c.1750+1G>A	SNV Germline	Chr9:108903562	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA197538829	rs_770668926	1 SubmittersRCV001959453
NM_003640.5(ELP1):c.1190-2A>G	SNV Germline	Chr9:108911182	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374429221	rs_2132014132	1 SubmittersRCV002036456
NM_003640.5(ELP1):c.1053G>A (p.Trp351Ter)	SNV Germline	Chr9:108912400	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374429512	rs_2132016792	1 SubmittersRCV001942317
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)	SNV Germline	Chr9:108881708	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA197522172	rs_906880093	3 SubmittersRCV001952594 RCV002271702 RCV006554635
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)	SNV Germline	Chr9:108879476	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma not specified	Criteria Provided Conflicting Classifications	CA5174269	rs_367582146	4 SubmittersRCV001908956 RCV002503546 RCV003323946
NM_003640.5(ELP1):c.2020C>T (p.Gln674Ter)	SNV Germline	Chr9:108900370	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374423567	rs_2131988821	2 SubmittersRCV001907618 RCV005040433
NM_003640.5(ELP1):c.1361-1G>T	SNV Germline	Chr9:108908405	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA197541750	rs_372225464	2 SubmittersRCV001951463 RCV002507707
NM_003640.5(ELP1):c.1884T>A (p.Cys628Ter)	SNV Germline	Chr9:108901652	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374424883	rs_2131992501	1 SubmittersRCV001916514
NM_003640.5(ELP1):c.1644-2A>C	SNV Germline	Chr9:108903671	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374426160	rs_1413906605	1 SubmittersRCV002027080
NM_003640.5(ELP1):c.1112A>G (p.Tyr371Cys)	SNV Germline	Chr9:108912341	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5175122	rs_747603780	2 SubmittersRCV002113149 RCV004616994
NM_003640.5(ELP1):c.2014+18A>G	SNV Germline	Chr9:108901407	Conflicting classifications of pathogenicity	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Conflicting Classifications	CA1127937575	rs_1828800296	2 SubmittersRCV002126244 RCV005042741
NM_003640.5(ELP1):c.740+1G>T	SNV Germline	Chr9:108918810	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374386631	rs_763719304	1 SubmittersRCV002302502
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)	SNV Unknown	Chr9:108893014	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374418290	rs_2537882308	1 SubmittersRCV002306519
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)	SNV Germline	Chr9:108916280	Pathogenic/Likely pathogenic	Familial dysautonomia not specified Condition: not provided ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374385457	rs_2537936552	5 SubmittersRCV002306569 RCV004047731 RCV006470470 RCV006554653
NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)	SNV Unknown	Chr9:108879516	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374411870	rs_1827833640	1 SubmittersRCV002306605
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)	SNV Unknown	Chr9:108912469	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374429666	rs_2537926785	1 SubmittersRCV002306728
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)	SNV Unknown	Chr9:108902858	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374425514	rs_2537905523	1 SubmittersRCV002306803
NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)	SNV Unknown	Chr9:108896956	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374420300	rs_2537890305	1 SubmittersRCV002309618
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)	SNV Unknown	Chr9:108922898	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374389439	rs_2537949878	1 SubmittersRCV002309967
NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)	SNV Unknown	Chr9:108922865	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374389220	rs_2537949763	1 SubmittersRCV002308092
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)	SNV Unknown	Chr9:108919263	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374387343	rs_1829557292	1 SubmittersRCV002309182
NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)	SNV Unknown	Chr9:108898673	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374422013	rs_1003255472	1 SubmittersRCV002309235
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)	SNV Unknown	Chr9:108878131	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374410817	rs_2537855098	1 SubmittersRCV002306998
NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)	SNV Unknown	Chr9:108912426	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374429567	rs_2537926622	1 SubmittersRCV002307285
NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)	SNV Unknown	Chr9:108901484	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374424296	rs_2537902464	1 SubmittersRCV002310412
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)	SNV Unknown	Chr9:108912340	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374429390	rs_1274989641	1 SubmittersRCV002310565
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)	SNV Unknown	Chr9:108902913	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter	CA374425821	rs_2537905821	1 SubmittersRCV002308384
NM_003640.5(ELP1):c.599G>A (p.Trp200Ter)	SNV Germline	Chr9:108919303	Pathogenic	not specified	Criteria Provided Single Submitter	CA374388398	rs_2537943516	1 SubmittersRCV004066579
NM_003640.5(ELP1):c.2950C>T (p.Gln984Ter)	SNV Germline	Chr9:108892994	Pathogenic/Likely pathogenic	not specified ELP1-Associated Medulloblastoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA197530824	rs_568425709	3 SubmittersRCV004067410 RCV006554661 RCV006559454
NM_003640.5(ELP1):c.676C>T (p.Arg226Ter)	SNV Germline	Chr9:108918875	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA5175267	rs_748449813	2 SubmittersRCV003088052 RCV005045275
NM_003640.5(ELP1):c.304-2A>C	SNV Germline	Chr9:108927455	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374392254	rs_757972943	1 SubmittersRCV003080647
NM_003640.5(ELP1):c.3130C>T (p.Gln1044Ter)	SNV Germline	Chr9:108891233	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374416219	rs_1217750168	1 SubmittersRCV003115838
NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)	SNV Germline	Chr9:108911121	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374429033	rs_1301344134	2 SubmittersRCV002573116 RCV005042874
NM_003640.5(ELP1):c.741-2A>C	SNV Germline	Chr9:108917672	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374386546	rs_2537939987	1 SubmittersRCV002578174
NM_003640.5(ELP1):c.1908+1G>A	SNV Germline	Chr9:108901627	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374424694	rs_2537903051	1 SubmittersRCV002740133
NM_003640.5(ELP1):c.3701-2A>G	SNV Germline	Chr9:108878151	Likely pathogenic	Condition: not provided Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374410868	rs_2537855172	2 SubmittersRCV002792101 RCV005601951
NM_003640.5(ELP1):c.881G>A (p.Trp294Ter)	SNV Germline	Chr9:108916281	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374385458	rs_2537936557	1 SubmittersRCV002870818
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)	SNV Germline	Chr9:108917597	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374386257	rs_1339594475	2 SubmittersRCV002866887 RCV004017950
NM_003640.5(ELP1):c.649+13A>T	SNV Germline	Chr9:108919240	Conflicting classifications of pathogenicity	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Conflicting Classifications	CA1127940613	rs_1829556476	2 SubmittersRCV002885893 RCV005045027
NM_003640.5(ELP1):c.88C>T (p.Gln30Ter)	SNV Germline	Chr9:108931059	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374394969	rs_2537966954	1 SubmittersRCV002899336
NM_003640.5(ELP1):c.3622A>T (p.Lys1208Ter)	SNV Germline	Chr9:108878701	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374411388	rs_2537856396	1 SubmittersRCV002988512
NM_003640.5(ELP1):c.151-2A>C	SNV Germline	Chr9:108929923	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374394549	rs_2537964254	1 SubmittersRCV003018087
NM_003640.5(ELP1):c.2588-2A>G	SNV Germline	Chr9:108896646	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374420203	rs_2537889340	1 SubmittersRCV003028628
NM_003640.5(ELP1):c.959-2A>C	SNV Germline	Chr9:108912496	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374429728	rs_2537926887	1 SubmittersRCV003035429
NM_003640.5(ELP1):c.2860+1G>C	SNV Germline	Chr9:108893942	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374418704	rs_1242880171	1 SubmittersRCV003054281
NM_003640.5(ELP1):c.3856-1G>A	SNV Germline	Chr9:108874971	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374410505	rs_2537850034	1 SubmittersRCV003056298
NM_003640.5(ELP1):c.3059C>A (p.Ser1020Ter)	SNV Germline	Chr9:108891304	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374416868	rs_1828323093	1 SubmittersRCV003575436
NM_003640.5(ELP1):c.361C>T (p.Gln121Ter)	SNV Germline	Chr9:108927396	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374391812	rs_1829854608	1 SubmittersRCV003575313
NM_003640.5(ELP1):c.2729C>A (p.Ser910Ter)	SNV Germline	Chr9:108896503	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374419744	rs_1828552155	1 SubmittersRCV003552399
NM_003640.5(ELP1):c.303+1G>A	SNV Germline	Chr9:108929768	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374393478	rs_1157693787	1 SubmittersRCV003545897
NM_003640.5(ELP1):c.31G>T (p.Glu11Ter)	SNV Germline	Chr9:108931116	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374395303	rs_2537967112	1 SubmittersRCV003545279
NM_003640.5(ELP1):c.1524G>A (p.Trp508Ter)	SNV Germline	Chr9:108906422	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374427612	rs_2537912885	1 SubmittersRCV003573472
NM_003640.5(ELP1):c.3834C>G (p.Tyr1278Ter)	SNV Germline	Chr9:108878016	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374410563	rs_755563190	1 SubmittersRCV003555745
NM_003640.5(ELP1):c.3286-1G>C	SNV Germline	Chr9:108881766	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374413348	rs_1159691474	1 SubmittersRCV003564041
NM_003640.5(ELP1):c.2126T>G (p.Leu709Ter)	SNV Germline	Chr9:108900264	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374423313	rs_2537898239	1 SubmittersRCV003580953
NM_003640.5(ELP1):c.2860+1G>A	SNV Germline	Chr9:108893942	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374418706	rs_1242880171	1 SubmittersRCV003565129
NM_003640.5(ELP1):c.466+2T>G	SNV Germline	Chr9:108926521	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374390951	rs_1587923537	1 SubmittersRCV003578304
NM_003640.5(ELP1):c.3461-2A>G	SNV Germline	Chr9:108879559	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374412023	rs_1587872591	1 SubmittersRCV003569900
NM_003640.5(ELP1):c.553-1G>A	SNV Germline	Chr9:108919350	Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374388780	rs_2537943745	2 SubmittersRCV003659938 RCV005047720
NM_003640.5(ELP1):c.2736+1G>C	SNV Germline	Chr9:108896495	Likely pathogenic	Condition: not provided ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374419708	rs_1828551795	2 SubmittersRCV003665946 RCV006554693
NM_003640.5(ELP1):c.2164C>T (p.Arg722Ter)	SNV Germline	Chr9:108899862	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374423114	rs_1460858565	1 SubmittersRCV003673815
NM_003640.5(ELP1):c.1242C>A (p.Cys414Ter)	SNV Germline	Chr9:108911128	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374429064	rs_1233980811	1 SubmittersRCV003683604
NM_003640.5(ELP1):c.2501+2T>C	SNV Germline	Chr9:108897146	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374420876	rs_2537890934	1 SubmittersRCV003713710
NM_003640.5(ELP1):c.1465C>T (p.Gln489Ter)	SNV Germline	Chr9:108906481	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374427739	rs_2132003711	1 SubmittersRCV003723379
NM_003640.5(ELP1):c.958+1G>A	SNV Germline	Chr9:108916203	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374385029	rs_1392125158	1 SubmittersRCV003697557
NM_003640.5(ELP1):c.746C>G (p.Ser249Ter)	SNV Germline	Chr9:108917665	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts	CA374386518	rs_2537939949	2 SubmittersRCV003715464 RCV005051367
NM_003640.5(ELP1):c.1643+2T>C	SNV Germline	Chr9:108906301	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374426935	rs_2537912381	1 SubmittersRCV003731919
NM_003640.5(ELP1):c.3286-1G>A	SNV Germline	Chr9:108881766	Pathogenic/Likely pathogenic	Condition: not provided Medulloblastoma Familial dysautonomia ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374413351	rs_1159691474	4 SubmittersRCV003735661 RCV004787007 RCV005637040 RCV006554701
NM_003640.5(ELP1):c.1643+1G>A	SNV Germline	Chr9:108906302	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374426941	rs_2537912382	1 SubmittersRCV003854136
NM_003640.5(ELP1):c.2736+1G>A	SNV Germline	Chr9:108896495	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA374419710	rs_1828551795	1 SubmittersRCV003867423
NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)	SNV Germline	Chr9:108922889	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374389375	rs_755319650	2 SubmittersRCV003873786 RCV005051411
NM_003640.5(ELP1):c.738G>A (p.Trp246Ter)	SNV Germline	Chr9:108918813	Pathogenic/Likely pathogenic	Condition: not provided Familial dysautonomia Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA374386647	rs_2537942231	2 SubmittersRCV003880356 RCV005040609
NM_003640.5(ELP1):c.3855+2T>A	SNV Germline	Chr9:108877993	Likely pathogenic	Familial dysautonomia Medulloblastoma Familial dysautonomia	Criteria Provided Multiple Submitters No Conflicts		rs_2118933859	2 SubmittersRCV004587996 RCV005040703
NM_003640.5(ELP1):c.1909-2A>G	SNV Germline	Chr9:108901532	Likely pathogenic	Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV004702755
NM_003640.5(ELP1):c.3349C>T (p.Gln1117Ter)	SNV Germline	Chr9:108880163	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043663
NM_003640.5(ELP1):c.2345T>A (p.Leu782Ter)	SNV Germline	Chr9:108898520	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043688
NM_003640.5(ELP1):c.2205-1G>A	SNV Germline	Chr9:108898750	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043689
NM_003640.5(ELP1):c.1909-1G>T	SNV Germline	Chr9:108901531	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043695
NM_003640.5(ELP1):c.1855-1G>C	SNV Germline	Chr9:108901682	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043697
NM_003640.5(ELP1):c.1751-2A>G	SNV Germline	Chr9:108902944	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043698
NM_003640.5(ELP1):c.1751-14T>C	SNV Germline	Chr9:108902956	Conflicting classifications of pathogenicity	Familial dysautonomia Medulloblastoma Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005043699 RCV006489286
NM_003640.5(ELP1):c.1749G>A (p.Trp583Ter)	SNV Germline	Chr9:108903564	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005048868
NM_003640.5(ELP1):c.826G>T (p.Gly276Ter)	SNV Germline	Chr9:108917585	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005048871
NM_003640.5(ELP1):c.552+1G>A	SNV Germline	Chr9:108922841	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043728
NM_003640.5(ELP1):c.448C>T (p.Gln150Ter)	SNV Germline	Chr9:108926541	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043730
NM_003640.5(ELP1):c.433G>T (p.Glu145Ter)	SNV Germline	Chr9:108926556	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005048877
NM_003640.5(ELP1):c.298C>T (p.Gln100Ter)	SNV Germline	Chr9:108929774	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005043735
NM_003640.5(ELP1):c.223C>T (p.Gln75Ter)	SNV Germline	Chr9:108929849	Likely pathogenic	Medulloblastoma Familial dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005048879
NM_003640.5(ELP1):c.1361-2A>G	SNV Germline	Chr9:108908406	Pathogenic/Likely pathogenic	Condition: not provided ELP1-Associated Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005113328 RCV006554730
NM_003640.5(ELP1):c.3222+2T>C	SNV Germline	Chr9:108889330	Likely pathogenic	Primary dysautonomia	Criteria Provided Single Submitter			1 SubmittersRCV005360435
NM_003640.5(ELP1):c.3700+2T>C	SNV Germline	Chr9:108878621	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617530
NM_003640.5(ELP1):c.3578C>G (p.Ser1193Ter)	SNV Germline	Chr9:108878745	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617553
NM_003640.5(ELP1):c.649+1G>C	SNV Germline	Chr9:108919252	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617554
NM_003640.5(ELP1):c.2074G>T (p.Glu692Ter)	SNV Germline	Chr9:108900316	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617556
NM_003640.5(ELP1):c.391C>T (p.Gln131Ter)	SNV Germline	Chr9:108926598	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617585
NM_003640.5(ELP1):c.285C>A (p.Cys95Ter)	SNV Germline	Chr9:108929787	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617590
NM_003640.5(ELP1):c.1854+1G>T	SNV Germline	Chr9:108902838	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617600
NM_003640.5(ELP1):c.3573-2A>T	SNV Germline	Chr9:108878752	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617607
NM_003640.5(ELP1):c.3445C>T (p.Gln1149Ter)	SNV Germline	Chr9:108880067	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617618
NM_003640.5(ELP1):c.741-1G>C	SNV Germline	Chr9:108917671	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617645
NM_003640.5(ELP1):c.3838C>T (p.Gln1280Ter)	SNV Germline	Chr9:108878012	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617674
NM_003640.5(ELP1):c.1748G>A (p.Trp583Ter)	SNV Germline	Chr9:108903565	Likely pathogenic	Familial dysautonomia	No Assertion Criteria Provided			1 SubmittersRCV005617684
NM_003640.5(ELP1):c.3379C>T (p.Gln1127Ter)	SNV Germline	Chr9:108880133	Likely pathogenic	Medulloblastoma	Criteria Provided Single Submitter			1 SubmittersRCV006454850
NM_003640.5(ELP1):c.993T>G (p.Tyr331Ter)	SNV Germline	Chr9:108912460	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006514112
NM_003640.5(ELP1):c.1750G>T (p.Glu584Ter)	SNV Germline	Chr9:108903563	Likely pathogenic	ELP1-Associated Medulloblastoma	Criteria Provided Single Submitter			1 SubmittersRCV006554969
NM_003640.5(ELP1):c.2665G>T (p.Glu889Ter)	SNV Germline	Chr9:108896567	Likely pathogenic	ELP1-Associated Medulloblastoma	Criteria Provided Single Submitter			1 SubmittersRCV006554971
NM_003640.5(ELP1):c.2128C>T (p.Gln710Ter)	SNV Germline	Chr9:108900262	Pathogenic	ELP1-Associated Medulloblastoma	Criteria Provided Single Submitter			1 SubmittersRCV006554972
NM_003640.5(ELP1):c.1528G>T (p.Glu510Ter)	SNV Germline	Chr9:108906418	Likely pathogenic	ELP1-Associated Medulloblastoma	Criteria Provided Single Submitter			1 SubmittersRCV006554974
NM_003640.5(ELP1):c.3266G>A (p.Trp1089Ter)	SNV Germline	Chr9:108882144	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006622221

SNV
Germline

Chr9:108899816

Pathogenic

Familial dysautonomia
Condition: not provided
Charcot-Marie-Tooth disease
not specified
Medulloblastoma
Primary dysautonomia
Ovarian serous cystadenocarcinoma
Familial dysautonomia
Medulloblastoma
Sarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA284834

rs_111033171

23 SubmittersRCV000006458 RCV000058928 RCV000789357 RCV004018577 RCV003444194 RCV005357084 RCV005887326 RCV005041994 RCV005887325

NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)

SNV
Germline

Chr9:108900303

Pathogenic/Likely pathogenic

Familial dysautonomia
Charcot-Marie-Tooth disease
Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA253767

rs_137853022

9 SubmittersRCV000006459 RCV000789660 RCV001380395 RCV002482833

NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)

SNV
Germline

Chr9:108894062

Likely pathogenic

Familial dysautonomia
Charcot-Marie-Tooth disease

Criteria Provided
Single Submitter

CA253769

rs_28939712

3 SubmittersRCV000006460 RCV000789661

NM_003640.5(ELP1):c.1230G>A (p.Pro410=)

SNV
Germline

Chr9:108911140

Conflicting classifications of pathogenicity

not specified
Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291214

rs_41278359

9 SubmittersRCV000125400 RCV000308481 RCV000857535

NM_003640.5(ELP1):c.1886G>A (p.Arg629His)

SNV
Germline

Chr9:108901650

Conflicting classifications of pathogenicity

not specified
Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240882

rs_148378319

10 SubmittersRCV000214808 RCV000316773 RCV000724344

NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly)

SNV
Germline

Chr9:108882130

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174360

rs_146440397

10 SubmittersRCV000659118 RCV001166178 RCV004020903

NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)

SNV
Germline

Chr9:108893978

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

CA5174526

rs_149845612

12 SubmittersRCV000757401 RCV001166669 RCV002291611 RCV004020902

NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)

SNV
Germline

Chr9:108908401

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5175034

rs_149685738

7 SubmittersRCV000227222 RCV001276239 RCV003230264 RCV004020906 RCV004751397

NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)

SNV
Germline

Chr9:108929864

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175431

rs_3737311

6 SubmittersRCV000278649 RCV000287654 RCV004021176

NM_003640.5(ELP1):c.3474C>T (p.Pro1158=)

SNV
Germline

Chr9:108879544

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
ELP1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5174285

rs_146956297

7 SubmittersRCV000384366 RCV000863170 RCV003922638 RCV004022092

NM_003640.5(ELP1):c.3222+14C>T

SNV
Germline

Chr9:108889318

Conflicting classifications of pathogenicity

Familial dysautonomia
not specified
Condition: not provided
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5174381

rs_374787755

6 SubmittersRCV000377567 RCV000432127 RCV001699403 RCV003950291

NM_003640.5(ELP1):c.1878C>T (p.Asp626=)

SNV
Germline

Chr9:108901658

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5174858

rs_141596257

5 SubmittersRCV000387658 RCV000858502 RCV003950292

NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)

SNV
Germline

Chr9:108874957

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174147

rs_145319352

6 SubmittersRCV000355008 RCV000757404 RCV004022089

NM_003640.5(ELP1):c.2799G>A (p.Arg933=)

SNV
Germline

Chr9:108894004

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174535

rs_367974002

5 SubmittersRCV000390834 RCV000867149 RCV004022095

NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)

SNV
Germline

Chr9:108901431

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174818

rs_376699949

5 SubmittersRCV000265311 RCV000823514 RCV002488817 RCV005549956

NM_003640.5(ELP1):c.923T>C (p.Leu308Pro)

SNV
Germline

Chr9:108916239

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
ELP1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5175196

rs_78135392

8 SubmittersRCV000262689 RCV000755553 RCV003932508 RCV006406665

NM_003640.5(ELP1):c.169T>C (p.Leu57=)

SNV
Germline

Chr9:108929903

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10628782

rs_886063349

4 SubmittersRCV000339134 RCV002058764 RCV004022104

NM_003640.5(ELP1):c.-155A>T

SNV
Germline

Chr9:108933963

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10628783

rs_117100816

2 SubmittersRCV000356773 RCV003422364

NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)

SNV
Germline

Chr9:108874950

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
ELP1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5174146

rs_61749202

9 SubmittersRCV000297833 RCV000590763 RCV003970072 RCV006443235

NM_003640.5(ELP1):c.3513T>C (p.Ser1171=)

SNV
Germline

Chr9:108879505

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174275

rs_199617076

4 SubmittersRCV000274649 RCV000869320 RCV004022091

NM_003640.5(ELP1):c.1911T>C (p.Val637=)

SNV
Germline

Chr9:108901528

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174837

rs_369645371

9 SubmittersRCV000278309 RCV001450077 RCV004022098

NM_003640.5(ELP1):c.304-5C>T

SNV
Germline

Chr9:108927458

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5175398

rs_370384351

2 SubmittersRCV000327469 RCV000858401

NM_003640.5(ELP1):c.209G>A (p.Arg70His)

SNV
Germline

Chr9:108929863

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
Hereditary sensory and autonomic neuropathy
ELP1-related disorder

Criteria Provided
Conflicting Classifications

CA5175430

rs_111936933

6 SubmittersRCV000384303 RCV000858275 RCV001271221 RCV003922639

NM_003640.5(ELP1):c.3931+14C>G

SNV
Germline

Chr9:108874881

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632209

rs_555520875

3 SubmittersRCV000406241 RCV002061308

NM_003640.5(ELP1):c.2958+10A>T

SNV
Germline

Chr9:108892976

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174489

rs_768709875

2 SubmittersRCV000298453 RCV001451072

NM_003640.5(ELP1):c.2598C>T (p.Pro866=)

SNV
Germline

Chr9:108896634

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174574

rs_773218149

5 SubmittersRCV000312657 RCV001459462 RCV004022096

NM_003640.5(ELP1):c.2370A>G (p.Glu790=)

SNV
Germline

Chr9:108897279

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174662

rs_772114554

4 SubmittersRCV000324095 RCV001417884 RCV004022097

NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)

SNV
Germline

Chr9:108916215

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175187

rs_374814563

7 SubmittersRCV000302687 RCV000493897 RCV002488820 RCV003330656

NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)

SNV
Germline

Chr9:108929869

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5175432

rs_143723093

4 SubmittersRCV000345015 RCV000863374 RCV004022103

NM_003640.5(ELP1):c.2860+2T>C

SNV
Germline

Chr9:108893941

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA5174517

rs_754348901

2 SubmittersRCV000409912 RCV001865258

NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter)

SNV
Unknown

Chr9:108893986

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA5174529

rs_749052963

1 SubmittersRCV000410939

NM_003640.5(ELP1):c.2204+1G>A

SNV
Germline

Chr9:108899821

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA16041295

rs_1057517169

2 SubmittersRCV000409095

NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)

SNV
Germline

Chr9:108911157

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary sensory and autonomic neuropathy
Familial dysautonomia
ELP1-Associated Medulloblastoma

Criteria Provided
Conflicting Classifications

CA5175080

rs_139703788

8 SubmittersRCV000630703 RCV000780354 RCV001276240 RCV001168463 RCV006554518

NM_003640.5(ELP1):c.3347-15A>G

SNV
Germline

Chr9:108880180

Conflicting classifications of pathogenicity

not specified
Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174326

rs_200154542

6 SubmittersRCV000434445 RCV001166177 RCV001701004

NM_003640.5(ELP1):c.3346+7G>T

SNV
Germline

Chr9:108881698

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial dysautonomia
Medulloblastoma
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174338

rs_144631706

5 SubmittersRCV000430439 RCV000867472 RCV001275743 RCV005044639

NM_003640.5(ELP1):c.2436C>T (p.Asp812=)

SNV
Germline

Chr9:108897213

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174646

rs_113967847

5 SubmittersRCV000828356 RCV001169158 RCV005328295

NM_003640.5(ELP1):c.948G>A (p.Pro316=)

SNV
Germline

Chr9:108916214

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175186

rs_148917889

9 SubmittersRCV000529925 RCV001168466 RCV004023742

NM_003640.5(ELP1):c.650-6G>A

SNV
Germline

Chr9:108918907

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175273

rs_571466270

4 SubmittersRCV000530797 RCV001271216 RCV004023741

NM_003640.5(ELP1):c.1704A>G (p.Ser568=)

SNV
Germline

Chr9:108903609

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174925

rs_138192941

7 SubmittersRCV000592752 RCV000726723 RCV001166745

NM_003640.5(ELP1):c.1461-2A>G

SNV
Germline

Chr9:108906487

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma
ELP1-Associated Medulloblastoma

Criteria Provided
Conflicting Classifications

CA197540498

rs_866046915

8 SubmittersRCV000596965 RCV000668028 RCV003989567 RCV006554560

NM_003640.5(ELP1):c.2217A>G (p.Lys739=)

SNV
Germline

Chr9:108898737

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174728

rs_139583037

4 SubmittersRCV000593304 RCV001276229 RCV004024769

NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)

SNV
Germline

Chr9:108927445

Pathogenic/Likely pathogenic

Condition: not provided
ELP1-related disorder
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374392175

rs_1291760879

5 SubmittersRCV000596363 RCV003403403 RCV005055127

NM_003640.5(ELP1):c.3573-7C>G

SNV
Germline

Chr9:108878757

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174241

rs_370571926

4 SubmittersRCV000630701 RCV000859237

NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp)

SNV
Germline

Chr9:108889341

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified
Medulloblastoma
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174389

rs_140024352

7 SubmittersRCV000630694 RCV001201381 RCV004025387 RCV005049622

NM_003640.5(ELP1):c.3285+2T>C

SNV
Germline

Chr9:108882123

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374413406

rs_1554692181

1 SubmittersRCV001378358

NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)

SNV
Germline

Chr9:108912414

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175144

rs_748458910

3 SubmittersRCV000630680 RCV001276242 RCV004025383

NM_003640.5(ELP1):c.606G>T (p.Gly202=)

SNV
Germline

Chr9:108919296

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5175297

rs_768309637

6 SubmittersRCV000827122 RCV001166286 RCV005562401

NM_003640.5(ELP1):c.2958+1G>C

SNV
Germline

Chr9:108892985

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA374418170

rs_1239081703

2 SubmittersRCV000667505 RCV001855481

NM_003640.5(ELP1):c.2014+1G>A

SNV
Unknown

Chr9:108901424

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374423879

rs_1554696574

1 SubmittersRCV000672450

NM_003640.5(ELP1):c.1461-1G>T

SNV
Unknown

Chr9:108906486

Likely pathogenic

Familial dysautonomia
Familial dysautonomia
Medulloblastoma

Criteria Provided
Single Submitter

CA374427750

rs_539544212

2 SubmittersRCV000667416 RCV002493094

NM_003640.5(ELP1):c.1461-1G>A

SNV
Germline

Chr9:108906486

Likely pathogenic

Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA5174997

rs_539544212

3 SubmittersRCV000672968 RCV002532138 RCV005049651

NM_003640.5(ELP1):c.1360+1G>T

SNV
Germline

Chr9:108911009

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA374428559

rs_1201626345

2 SubmittersRCV000668411 RCV003546586

NM_003640.5(ELP1):c.385+1G>A

SNV
Germline

Chr9:108927371

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA374391654

rs_1554703061

3 SubmittersRCV000674490 RCV001378198

NM_003640.5(ELP1):c.151-1G>T

SNV
Unknown

Chr9:108929922

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374394540

rs_1554703613

1 SubmittersRCV000674659

NM_003640.5(ELP1):c.79C>T (p.Arg27Ter)

SNV
Germline

Chr9:108931068

Pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA5175472

rs_868073099

2 SubmittersRCV000667419 RCV001855480

NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)

SNV
Germline

Chr9:108931143

Pathogenic/Likely pathogenic

Familial dysautonomia
Condition: not provided
Medulloblastoma
Medulloblastoma
Familial dysautonomia
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA197531800

rs_926177767

7 SubmittersRCV000667461 RCV001204091 RCV003325211 RCV005046868 RCV006554570

NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)

SNV
Germline

Chr9:108878731

Pathogenic/Likely pathogenic

Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
ELP1-related disorder
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA5174237

rs_376078668

8 SubmittersRCV000668488 RCV001071602 RCV002499163 RCV003411577 RCV006554571

NM_003640.5(ELP1):c.2587+2T>G

SNV
Germline

Chr9:108896951

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA374420272

rs_1554695299

2 SubmittersRCV000667504 RCV003546585

NM_003640.5(ELP1):c.1908+2T>A

SNV
Unknown

Chr9:108901626

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374424684

rs_1554696648

1 SubmittersRCV000667502

NM_003640.5(ELP1):c.1854+1G>A

SNV
Germline

Chr9:108902838

Likely pathogenic

Familial dysautonomia
Familial dysautonomia
Medulloblastoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374425427

rs_1554696934

3 SubmittersRCV000674672 RCV002499191 RCV002544672

NM_003640.5(ELP1):c.1189+1G>A

SNV
Unknown

Chr9:108912263

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374429227

rs_1554699327

1 SubmittersRCV000667471

NM_003640.5(ELP1):c.151-1G>A

SNV
Germline

Chr9:108929922

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA374394545

rs_1554703613

2 SubmittersRCV000668015 RCV003708547

NM_003640.5(ELP1):c.3701-1G>A

SNV
Germline

Chr9:108878150

Likely pathogenic

Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374410866

rs_1554691572

3 SubmittersRCV000667528 RCV003767957 RCV005046871

NM_003640.5(ELP1):c.2205-1G>C

SNV
Germline

Chr9:108898750

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA374422293

rs_1554695846

2 SubmittersRCV000667498 RCV001861759

NM_003640.5(ELP1):c.1751-2A>T

SNV
Unknown

Chr9:108902944

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374425888

rs_1554697001

1 SubmittersRCV000674829

NM_003640.5(ELP1):c.1750+1G>T

SNV
Unknown

Chr9:108903562

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374425893

rs_770668926

1 SubmittersRCV000673955

NM_003640.5(ELP1):c.552+2T>A

SNV
Germline

Chr9:108922840

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA374389068

rs_1554702142

3 SubmittersRCV000667989 RCV001216024

NM_003640.5(ELP1):c.552+1G>T

SNV
Germline

Chr9:108922841

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA5175328

rs_765572951

2 SubmittersRCV000673191 RCV003768003

NM_003640.5(ELP1):c.386-2A>C

SNV
Unknown

Chr9:108926605

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374391512

rs_1554702880

1 SubmittersRCV000668110

NM_003640.5(ELP1):c.150+1G>A

SNV
Unknown

Chr9:108930996

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374394676

rs_1554703831

1 SubmittersRCV000669523

NM_003640.5(ELP1):c.3701-6C>G

SNV
Germline

Chr9:108878155

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified
Cervical cancer

Criteria Provided
Conflicting Classifications

CA5174204

rs_148535504

5 SubmittersRCV000664986 RCV001391327 RCV004026077 RCV005901436

NM_003640.5(ELP1):c.3346+1G>A

SNV
Germline

Chr9:108881704

Likely pathogenic

Familial dysautonomia
Condition: not provided

Criteria Provided
Single Submitter

CA5174340

rs_760774999

3 SubmittersRCV000669335 RCV001056423

NM_003640.5(ELP1):c.304-2A>G

SNV
Germline

Chr9:108927455

Likely pathogenic

Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA5175396

rs_757972943

4 SubmittersRCV000667469 RCV001379354 RCV002485537

NM_003640.5(ELP1):c.1A>T (p.Met1Leu)

SNV
Unknown

Chr9:108931146

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

CA374395541

rs_1554703907

1 SubmittersRCV000667495

NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter)

SNV
Germline

Chr9:108897035

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374420808

rs_1564084140

1 SubmittersRCV001380960

NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)

SNV
Germline

Chr9:108902925

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174904

rs_369856286

4 SubmittersRCV000698326 RCV001835923 RCV004026442

NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)

SNV
Germline

Chr9:108906409

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA197540437

rs_201706900

3 SubmittersRCV000700992 RCV001276237 RCV005328361

NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)

SNV
Germline

Chr9:108881726

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

CA5174343

rs_761896714

4 SubmittersRCV000702826 RCV002536364 RCV005049666 RCV005550036

NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)

SNV
Germline

Chr9:108901433

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374423928

rs_1587896788

1 SubmittersRCV001383399

NM_003640.5(ELP1):c.1486C>T (p.Gln496Ter)

SNV
Germline

Chr9:108906460

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374427687

rs_749704610

1 SubmittersRCV000791631

NM_003640.5(ELP1):c.1309A>C (p.Asn437His)

SNV
Germline

Chr9:108911061

Conflicting classifications of pathogenicity

Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5175059

rs_148609833

7 SubmittersRCV000796780 RCV002495051 RCV002534609 RCV004027574

NM_003640.5(ELP1):c.3572+1G>A

SNV
Germline

Chr9:108879445

Likely pathogenic

Familial dysautonomia
Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA197520261

rs_571348995

4 SubmittersRCV000806459 RCV001377355 RCV005049700

NM_003640.5(ELP1):c.2958+1G>A

SNV
Germline

Chr9:108892985

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374418168

rs_1239081703

1 SubmittersRCV000823438

NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser)

SNV
Germline

Chr9:108900364

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174792

rs_537930129

5 SubmittersRCV000863776 RCV001169160 RCV004027602

NM_003640.5(ELP1):c.2769A>G (p.Thr923=)

SNV
Germline

Chr9:108894034

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174542

rs_370330097

3 SubmittersRCV000870786 RCV001168404

NM_003640.5(ELP1):c.1914G>A (p.Ala638=)

SNV
Germline

Chr9:108901525

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174835

rs_142096497

4 SubmittersRCV000867920 RCV001563846 RCV004027708

NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)

SNV
Germline

Chr9:108880071

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174311

rs_779796058

3 SubmittersRCV000873503 RCV001169094

NM_003640.5(ELP1):c.717A>C (p.Gly239=)

SNV
Germline

Chr9:108918834

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA466668859

rs_1333495798

2 SubmittersRCV000875057 RCV001169196

NM_003640.5(ELP1):c.959-8C>T

SNV
Germline

Chr9:108912502

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5175157

rs_766511916

3 SubmittersRCV000936966 RCV001168465

NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)

SNV
Germline

Chr9:108893979

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia
Medulloblastoma
not specified
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA5174528

rs_761911009

5 SubmittersRCV001052645 RCV002505601 RCV003444766 RCV004031649 RCV006554605

NM_003640.5(ELP1):c.2268T>A (p.Tyr756Ter)

SNV
Germline

Chr9:108898686

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374422068

rs_1828651198

1 SubmittersRCV001040845

NM_003640.5(ELP1):c.3285+1G>C

SNV
Germline

Chr9:108882124

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374413413

rs_1287123881

1 SubmittersRCV001034747

NM_003640.5(ELP1):c.3144C>T (p.Leu1048=)

SNV
Germline

Chr9:108891219

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174428

rs_764867856

2 SubmittersRCV001166667 RCV002067812

NM_003640.5(ELP1):c.1957T>C (p.Leu653=)

SNV
Germline

Chr9:108901482

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5174828

rs_542412132

4 SubmittersRCV001166230 RCV001521094 RCV004032885

NM_003640.5(ELP1):c.3572+12A>T

SNV
Germline

Chr9:108879434

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA197520229

rs_1055164302

2 SubmittersRCV001169093 RCV002558676

NM_003640.5(ELP1):c.2861-12T>G

SNV
Germline

Chr9:108893095

Conflicting classifications of pathogenicity

Familial dysautonomia
Medulloblastoma
Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174506

rs_746590157

3 SubmittersRCV001166668 RCV002491479 RCV003737014

NM_003640.5(ELP1):c.2502-13C>T

SNV
Germline

Chr9:108897051

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5174617

rs_138510668

2 SubmittersRCV001168405 RCV003769820

NM_003640.5(ELP1):c.649+12T>C

SNV
Germline

Chr9:108919241

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5175288

rs_375554772

2 SubmittersRCV001169197 RCV002067832

NM_003640.5(ELP1):c.3572+5G>A

SNV
Germline

Chr9:108879441

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial dysautonomia
Medulloblastoma
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174262

rs_773132143

6 SubmittersRCV001194428 RCV001220783 RCV001833753 RCV002504221

NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)

SNV
Germline

Chr9:108878060

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374410662

rs_1827767235

3 SubmittersRCV001214239 RCV002290642 RCV002504257

NM_003640.5(ELP1):c.3175C>T (p.Gln1059Ter)

SNV
Germline

Chr9:108889379

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374414983

rs_1828239449

1 SubmittersRCV001217430

NM_003640.5(ELP1):c.671G>A (p.Trp224Ter)

SNV
Germline

Chr9:108918880

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374387018

rs_1829544561

1 SubmittersRCV001210278

NM_003640.5(ELP1):c.2015-2A>G

SNV
Germline

Chr9:108900377

Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Single Submitter

CA374423584

rs_1828729991

2 SubmittersRCV001213501 RCV005614497

NM_003640.5(ELP1):c.1754C>A (p.Ser585Ter)

SNV
Germline

Chr9:108902939

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374425875

rs_1828866977

1 SubmittersRCV001228339

NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)

SNV
Germline

Chr9:108903578

Conflicting classifications of pathogenicity

Condition: not provided
Medulloblastoma
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA5174920

rs_199555804

3 SubmittersRCV001239109 RCV002499392 RCV004907690

NM_003640.5(ELP1):c.3855+1G>T

SNV
Germline

Chr9:108877994

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374410515

rs_1827764134

1 SubmittersRCV001229293

NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)

SNV
Germline

Chr9:108897275

Conflicting classifications of pathogenicity

Familial dysautonomia
Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

CA197533297

rs_546587836

4 SubmittersRCV001278709 RCV002541690 RCV002480903 RCV004035474

NM_003640.5(ELP1):c.581A>G (p.His194Arg)

SNV
Germline

Chr9:108919321

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
not specified

Criteria Provided
Conflicting Classifications

CA374388535

rs_1682473914

3 SubmittersRCV001317856 RCV001835581 RCV006406901

NM_003640.5(ELP1):c.3855+2T>G

SNV
Germline

Chr9:108877993

Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374410514

rs_2118933859

3 SubmittersRCV001379773 RCV001826155

NM_003640.5(ELP1):c.3460+1G>A

SNV
Germline

Chr9:108880051

Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374412063

rs_1478450302

3 SubmittersRCV001378128 RCV001826136 RCV005050363

NM_003640.5(ELP1):c.1909-2A>C

SNV
Germline

Chr9:108901532

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374424650

rs_2131992124

1 SubmittersRCV001377739

NM_003640.5(ELP1):c.1460+1G>A

SNV
Germline

Chr9:108908304

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374428183

rs_1564093439

1 SubmittersRCV001377018

NM_003640.5(ELP1):c.959-1G>A

SNV
Germline

Chr9:108912495

Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Single Submitter

CA374429725

rs_2132017099

2 SubmittersRCV001378603 RCV001826143

NM_003640.5(ELP1):c.3424C>T (p.Arg1142Ter)

SNV
Germline

Chr9:108880088

Pathogenic/Likely pathogenic

Condition: not provided
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA5174313

rs_768015419

2 SubmittersRCV001387809 RCV006554621

NM_003640.5(ELP1):c.2859T>A (p.Cys953Ter)

SNV
Germline

Chr9:108893944

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374418715

rs_762459906

1 SubmittersRCV001384153

NM_003640.5(ELP1):c.2642T>A (p.Leu881Ter)

SNV
Germline

Chr9:108896590

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374420002

rs_2131980225

1 SubmittersRCV001381561

NM_003640.5(ELP1):c.1339C>T (p.Gln447Ter)

SNV
Germline

Chr9:108911031

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374428609

rs_1271784136

1 SubmittersRCV001391031

NM_003640.5(ELP1):c.990G>A (p.Trp330Ter)

SNV
Germline

Chr9:108912463

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374429651

rs_1829265811

1 SubmittersRCV001383788

NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)

SNV
Germline

Chr9:108918814

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma
Familial dysautonomia
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374386655

rs_1317221906

4 SubmittersRCV001388056 RCV004017831 RCV005040263 RCV006554622

NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)

SNV
Germline

Chr9:108919330

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374388632

rs_1829561209

2 SubmittersRCV001381430 RCV002282535

NM_003640.5(ELP1):c.307G>T (p.Glu103Ter)

SNV
Germline

Chr9:108927450

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374392194

rs_2132045613

2 SubmittersRCV001387861 RCV005040262

NM_003640.5(ELP1):c.64C>T (p.Gln22Ter)

SNV
Germline

Chr9:108931083

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374395082

rs_2132052954

1 SubmittersRCV001383278

NM_003640.5(ELP1):c.3461-8T>C

SNV
Germline

Chr9:108879565

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA5174288

rs_778083125

2 SubmittersRCV001429967 RCV005040280

NM_003640.5(ELP1):c.2205-9T>G

SNV
Germline

Chr9:108898758

Conflicting classifications of pathogenicity

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174732

rs_762448047

2 SubmittersRCV001503645 RCV005050384

NM_003640.5(ELP1):c.312T>C (p.Cys104=)

SNV
Germline

Chr9:108927445

Pathogenic

Medulloblastoma

No Assertion Criteria Provided

CA466671824

rs_1291760879

1 SubmittersRCV001730182

NM_003640.5(ELP1):c.93G>T (p.Gly31=)

SNV
Germline

Chr9:108931054

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA5175468

rs_778404648

4 SubmittersRCV001816511 RCV005040393 RCV005055174

NM_003640.5(ELP1):c.3573-1G>A

SNV
Germline

Chr9:108878751

Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Single Submitter

CA374411491

rs_2118936334

2 SubmittersRCV001977997 RCV005614744

NM_003640.5(ELP1):c.2295A>T (p.Gly765=)

SNV
Germline

Chr9:108898570

Conflicting classifications of pathogenicity

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA5174698

rs_137874743

2 SubmittersRCV001934243 RCV002484686

NM_003640.5(ELP1):c.3161-2A>G

SNV
Germline

Chr9:108889395

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5174398

rs_749548287

1 SubmittersRCV002030967

NM_003640.5(ELP1):c.1289T>A (p.Leu430Ter)

SNV
Germline

Chr9:108911081

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374428723

rs_2132013740

1 SubmittersRCV001905753

NM_003640.5(ELP1):c.3688G>T (p.Glu1230Ter)

SNV
Germline

Chr9:108878635

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374411163

rs_764936574

1 SubmittersRCV001929541

NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)

SNV
Germline

Chr9:108878728

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA5174234

rs_762224071

2 SubmittersRCV001960589 RCV002492122

NM_003640.5(ELP1):c.1644-1G>T

SNV
Germline

Chr9:108903670

Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374426155

rs_1451406050

2 SubmittersRCV001967024 RCV006458829

NM_003640.5(ELP1):c.1052G>A (p.Trp351Ter)

SNV
Germline

Chr9:108912401

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374429515

rs_2132016798

1 SubmittersRCV001972634

NM_003640.5(ELP1):c.2363+14A>G

SNV
Germline

Chr9:108898488

Conflicting classifications of pathogenicity

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA2573143762

rs_2131984488

2 SubmittersRCV002030301 RCV005042644

NM_003640.5(ELP1):c.2501+1G>A

SNV
Germline

Chr9:108897147

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374420882

rs_2131981589

1 SubmittersRCV002046994

NM_003640.5(ELP1):c.1190-1G>C

SNV
Germline

Chr9:108911181

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374429218

rs_2132014128

1 SubmittersRCV002041090

NM_003640.5(ELP1):c.3822G>A (p.Trp1274Ter)

SNV
Germline

Chr9:108878028

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5174182

rs_543759021

1 SubmittersRCV001895022

NM_003640.5(ELP1):c.3286-1G>T

SNV
Germline

Chr9:108881766

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374413345

rs_1159691474

1 SubmittersRCV002006910

NM_003640.5(ELP1):c.969G>A (p.Trp323Ter)

SNV
Germline

Chr9:108912484

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374429698

rs_1829266738

1 SubmittersRCV001994751

NM_003640.5(ELP1):c.3291C>G (p.Tyr1097Ter)

SNV
Germline

Chr9:108881760

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA197522215

rs_924743948

1 SubmittersRCV002000063

NM_003640.5(ELP1):c.649+1G>A

SNV
Germline

Chr9:108919252

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374387252

rs_1564102412

1 SubmittersRCV002018798

NM_003640.5(ELP1):c.3160+1G>T

SNV
Germline

Chr9:108891202

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374415986

rs_2131969608

1 SubmittersRCV001971783

NM_003640.5(ELP1):c.1750+1G>A

SNV
Germline

Chr9:108903562

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA197538829

rs_770668926

1 SubmittersRCV001959453

NM_003640.5(ELP1):c.1190-2A>G

SNV
Germline

Chr9:108911182

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374429221

rs_2132014132

1 SubmittersRCV002036456

NM_003640.5(ELP1):c.1053G>A (p.Trp351Ter)

SNV
Germline

Chr9:108912400

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374429512

rs_2132016792

1 SubmittersRCV001942317

NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter)

SNV
Germline

Chr9:108881708

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA197522172

rs_906880093

3 SubmittersRCV001952594 RCV002271702 RCV006554635

NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)

SNV
Germline

Chr9:108879476

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

CA5174269

rs_367582146

4 SubmittersRCV001908956 RCV002503546 RCV003323946

NM_003640.5(ELP1):c.2020C>T (p.Gln674Ter)

SNV
Germline

Chr9:108900370

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374423567

rs_2131988821

2 SubmittersRCV001907618 RCV005040433

NM_003640.5(ELP1):c.1361-1G>T

SNV
Germline

Chr9:108908405

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA197541750

rs_372225464

2 SubmittersRCV001951463 RCV002507707

NM_003640.5(ELP1):c.1884T>A (p.Cys628Ter)

SNV
Germline

Chr9:108901652

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374424883

rs_2131992501

1 SubmittersRCV001916514

NM_003640.5(ELP1):c.1644-2A>C

SNV
Germline

Chr9:108903671

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374426160

rs_1413906605

1 SubmittersRCV002027080

NM_003640.5(ELP1):c.1112A>G (p.Tyr371Cys)

SNV
Germline

Chr9:108912341

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5175122

rs_747603780

2 SubmittersRCV002113149 RCV004616994

NM_003640.5(ELP1):c.2014+18A>G

SNV
Germline

Chr9:108901407

Conflicting classifications of pathogenicity

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Conflicting Classifications

CA1127937575

rs_1828800296

2 SubmittersRCV002126244 RCV005042741

NM_003640.5(ELP1):c.740+1G>T

SNV
Germline

Chr9:108918810

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374386631

rs_763719304

1 SubmittersRCV002302502

NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter)

SNV
Unknown

Chr9:108893014

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374418290

rs_2537882308

1 SubmittersRCV002306519

NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)

SNV
Germline

Chr9:108916280

Pathogenic/Likely pathogenic

Familial dysautonomia
not specified
Condition: not provided
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374385457

rs_2537936552

5 SubmittersRCV002306569 RCV004047731 RCV006470470 RCV006554653

NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter)

SNV
Unknown

Chr9:108879516

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374411870

rs_1827833640

1 SubmittersRCV002306605

NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter)

SNV
Unknown

Chr9:108912469

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374429666

rs_2537926785

1 SubmittersRCV002306728

NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter)

SNV
Unknown

Chr9:108902858

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374425514

rs_2537905523

1 SubmittersRCV002306803

NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter)

SNV
Unknown

Chr9:108896956

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374420300

rs_2537890305

1 SubmittersRCV002309618

NM_003640.5(ELP1):c.496A>T (p.Lys166Ter)

SNV
Unknown

Chr9:108922898

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374389439

rs_2537949878

1 SubmittersRCV002309967

NM_003640.5(ELP1):c.529C>T (p.Gln177Ter)

SNV
Unknown

Chr9:108922865

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374389220

rs_2537949763

1 SubmittersRCV002308092

NM_003640.5(ELP1):c.639C>A (p.Cys213Ter)

SNV
Unknown

Chr9:108919263

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374387343

rs_1829557292

1 SubmittersRCV002309182

NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter)

SNV
Unknown

Chr9:108898673

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374422013

rs_1003255472

1 SubmittersRCV002309235

NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter)

SNV
Unknown

Chr9:108878131

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374410817

rs_2537855098

1 SubmittersRCV002306998

NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter)

SNV
Unknown

Chr9:108912426

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374429567

rs_2537926622

1 SubmittersRCV002307285

NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter)

SNV
Unknown

Chr9:108901484

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374424296

rs_2537902464

1 SubmittersRCV002310412

NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter)

SNV
Unknown

Chr9:108912340

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374429390

rs_1274989641

1 SubmittersRCV002310565

NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter)

SNV
Unknown

Chr9:108902913

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

CA374425821

rs_2537905821

1 SubmittersRCV002308384

NM_003640.5(ELP1):c.599G>A (p.Trp200Ter)

SNV
Germline

Chr9:108919303

Pathogenic

not specified

Criteria Provided
Single Submitter

CA374388398

rs_2537943516

1 SubmittersRCV004066579

NM_003640.5(ELP1):c.2950C>T (p.Gln984Ter)

SNV
Germline

Chr9:108892994

Pathogenic/Likely pathogenic

not specified
ELP1-Associated Medulloblastoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA197530824

rs_568425709

3 SubmittersRCV004067410 RCV006554661 RCV006559454

NM_003640.5(ELP1):c.676C>T (p.Arg226Ter)

SNV
Germline

Chr9:108918875

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA5175267

rs_748449813

2 SubmittersRCV003088052 RCV005045275

NM_003640.5(ELP1):c.304-2A>C

SNV
Germline

Chr9:108927455

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374392254

rs_757972943

1 SubmittersRCV003080647

NM_003640.5(ELP1):c.3130C>T (p.Gln1044Ter)

SNV
Germline

Chr9:108891233

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374416219

rs_1217750168

1 SubmittersRCV003115838

NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)

SNV
Germline

Chr9:108911121

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374429033

rs_1301344134

2 SubmittersRCV002573116 RCV005042874

NM_003640.5(ELP1):c.741-2A>C

SNV
Germline

Chr9:108917672

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374386546

rs_2537939987

1 SubmittersRCV002578174

NM_003640.5(ELP1):c.1908+1G>A

SNV
Germline

Chr9:108901627

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374424694

rs_2537903051

1 SubmittersRCV002740133

NM_003640.5(ELP1):c.3701-2A>G

SNV
Germline

Chr9:108878151

Likely pathogenic

Condition: not provided
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374410868

rs_2537855172

2 SubmittersRCV002792101 RCV005601951

NM_003640.5(ELP1):c.881G>A (p.Trp294Ter)

SNV
Germline

Chr9:108916281

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374385458

rs_2537936557

1 SubmittersRCV002870818

NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)

SNV
Germline

Chr9:108917597

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374386257

rs_1339594475

2 SubmittersRCV002866887 RCV004017950

NM_003640.5(ELP1):c.649+13A>T

SNV
Germline

Chr9:108919240

Conflicting classifications of pathogenicity

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA1127940613

rs_1829556476

2 SubmittersRCV002885893 RCV005045027

NM_003640.5(ELP1):c.88C>T (p.Gln30Ter)

SNV
Germline

Chr9:108931059

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374394969

rs_2537966954

1 SubmittersRCV002899336

NM_003640.5(ELP1):c.3622A>T (p.Lys1208Ter)

SNV
Germline

Chr9:108878701

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374411388

rs_2537856396

1 SubmittersRCV002988512

NM_003640.5(ELP1):c.151-2A>C

SNV
Germline

Chr9:108929923

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374394549

rs_2537964254

1 SubmittersRCV003018087

NM_003640.5(ELP1):c.2588-2A>G

SNV
Germline

Chr9:108896646

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374420203

rs_2537889340

1 SubmittersRCV003028628

NM_003640.5(ELP1):c.959-2A>C

SNV
Germline

Chr9:108912496

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374429728

rs_2537926887

1 SubmittersRCV003035429

NM_003640.5(ELP1):c.2860+1G>C

SNV
Germline

Chr9:108893942

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374418704

rs_1242880171

1 SubmittersRCV003054281

NM_003640.5(ELP1):c.3856-1G>A

SNV
Germline

Chr9:108874971

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374410505

rs_2537850034

1 SubmittersRCV003056298

NM_003640.5(ELP1):c.3059C>A (p.Ser1020Ter)

SNV
Germline

Chr9:108891304

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374416868

rs_1828323093

1 SubmittersRCV003575436

NM_003640.5(ELP1):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr9:108927396

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374391812

rs_1829854608

1 SubmittersRCV003575313

NM_003640.5(ELP1):c.2729C>A (p.Ser910Ter)

SNV
Germline

Chr9:108896503

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374419744

rs_1828552155

1 SubmittersRCV003552399

NM_003640.5(ELP1):c.303+1G>A

SNV
Germline

Chr9:108929768

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374393478

rs_1157693787

1 SubmittersRCV003545897

NM_003640.5(ELP1):c.31G>T (p.Glu11Ter)

SNV
Germline

Chr9:108931116

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374395303

rs_2537967112

1 SubmittersRCV003545279

NM_003640.5(ELP1):c.1524G>A (p.Trp508Ter)

SNV
Germline

Chr9:108906422

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374427612

rs_2537912885

1 SubmittersRCV003573472

NM_003640.5(ELP1):c.3834C>G (p.Tyr1278Ter)

SNV
Germline

Chr9:108878016

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374410563

rs_755563190

1 SubmittersRCV003555745

NM_003640.5(ELP1):c.3286-1G>C

SNV
Germline

Chr9:108881766

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374413348

rs_1159691474

1 SubmittersRCV003564041

NM_003640.5(ELP1):c.2126T>G (p.Leu709Ter)

SNV
Germline

Chr9:108900264

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374423313

rs_2537898239

1 SubmittersRCV003580953

NM_003640.5(ELP1):c.2860+1G>A

SNV
Germline

Chr9:108893942

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374418706

rs_1242880171

1 SubmittersRCV003565129

NM_003640.5(ELP1):c.466+2T>G

SNV
Germline

Chr9:108926521

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374390951

rs_1587923537

1 SubmittersRCV003578304

NM_003640.5(ELP1):c.3461-2A>G

SNV
Germline

Chr9:108879559

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374412023

rs_1587872591

1 SubmittersRCV003569900

NM_003640.5(ELP1):c.553-1G>A

SNV
Germline

Chr9:108919350

Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374388780

rs_2537943745

2 SubmittersRCV003659938 RCV005047720

NM_003640.5(ELP1):c.2736+1G>C

SNV
Germline

Chr9:108896495

Likely pathogenic

Condition: not provided
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374419708

rs_1828551795

2 SubmittersRCV003665946 RCV006554693

NM_003640.5(ELP1):c.2164C>T (p.Arg722Ter)

SNV
Germline

Chr9:108899862

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374423114

rs_1460858565

1 SubmittersRCV003673815

NM_003640.5(ELP1):c.1242C>A (p.Cys414Ter)

SNV
Germline

Chr9:108911128

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374429064

rs_1233980811

1 SubmittersRCV003683604

NM_003640.5(ELP1):c.2501+2T>C

SNV
Germline

Chr9:108897146

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374420876

rs_2537890934

1 SubmittersRCV003713710

NM_003640.5(ELP1):c.1465C>T (p.Gln489Ter)

SNV
Germline

Chr9:108906481

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374427739

rs_2132003711

1 SubmittersRCV003723379

NM_003640.5(ELP1):c.958+1G>A

SNV
Germline

Chr9:108916203

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374385029

rs_1392125158

1 SubmittersRCV003697557

NM_003640.5(ELP1):c.746C>G (p.Ser249Ter)

SNV
Germline

Chr9:108917665

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

CA374386518

rs_2537939949

2 SubmittersRCV003715464 RCV005051367

NM_003640.5(ELP1):c.1643+2T>C

SNV
Germline

Chr9:108906301

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374426935

rs_2537912381

1 SubmittersRCV003731919

NM_003640.5(ELP1):c.3286-1G>A

SNV
Germline

Chr9:108881766

Pathogenic/Likely pathogenic

Condition: not provided
Medulloblastoma
Familial dysautonomia
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374413351

rs_1159691474

4 SubmittersRCV003735661 RCV004787007 RCV005637040 RCV006554701

NM_003640.5(ELP1):c.1643+1G>A

SNV
Germline

Chr9:108906302

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374426941

rs_2537912382

1 SubmittersRCV003854136

NM_003640.5(ELP1):c.2736+1G>A

SNV
Germline

Chr9:108896495

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA374419710

rs_1828551795

1 SubmittersRCV003867423

NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr9:108922889

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374389375

rs_755319650

2 SubmittersRCV003873786 RCV005051411

NM_003640.5(ELP1):c.738G>A (p.Trp246Ter)

SNV
Germline

Chr9:108918813

Pathogenic/Likely pathogenic

Condition: not provided
Familial dysautonomia
Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA374386647

rs_2537942231

2 SubmittersRCV003880356 RCV005040609

NM_003640.5(ELP1):c.3855+2T>A

SNV
Germline

Chr9:108877993

Likely pathogenic

Familial dysautonomia
Medulloblastoma
Familial dysautonomia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2118933859

2 SubmittersRCV004587996 RCV005040703

NM_003640.5(ELP1):c.1909-2A>G

SNV
Germline

Chr9:108901532

Likely pathogenic

Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV004702755

NM_003640.5(ELP1):c.3349C>T (p.Gln1117Ter)

SNV
Germline

Chr9:108880163

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043663

NM_003640.5(ELP1):c.2345T>A (p.Leu782Ter)

SNV
Germline

Chr9:108898520

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043688

NM_003640.5(ELP1):c.2205-1G>A

SNV
Germline

Chr9:108898750

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043689

NM_003640.5(ELP1):c.1909-1G>T

SNV
Germline

Chr9:108901531

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043695

NM_003640.5(ELP1):c.1855-1G>C

SNV
Germline

Chr9:108901682

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043697

NM_003640.5(ELP1):c.1751-2A>G

SNV
Germline

Chr9:108902944

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043698

NM_003640.5(ELP1):c.1751-14T>C

SNV
Germline

Chr9:108902956

Conflicting classifications of pathogenicity

Familial dysautonomia
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043699 RCV006489286

NM_003640.5(ELP1):c.1749G>A (p.Trp583Ter)

SNV
Germline

Chr9:108903564

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005048868

NM_003640.5(ELP1):c.826G>T (p.Gly276Ter)

SNV
Germline

Chr9:108917585

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005048871

NM_003640.5(ELP1):c.552+1G>A

SNV
Germline

Chr9:108922841

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043728

NM_003640.5(ELP1):c.448C>T (p.Gln150Ter)

SNV
Germline

Chr9:108926541

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043730

NM_003640.5(ELP1):c.433G>T (p.Glu145Ter)

SNV
Germline

Chr9:108926556

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005048877

NM_003640.5(ELP1):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr9:108929774

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005043735

NM_003640.5(ELP1):c.223C>T (p.Gln75Ter)

SNV
Germline

Chr9:108929849

Likely pathogenic

Medulloblastoma
Familial dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005048879

NM_003640.5(ELP1):c.1361-2A>G

SNV
Germline

Chr9:108908406

Pathogenic/Likely pathogenic

Condition: not provided
ELP1-Associated Medulloblastoma

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005113328 RCV006554730

NM_003640.5(ELP1):c.3222+2T>C

SNV
Germline

Chr9:108889330

Likely pathogenic

Primary dysautonomia

Criteria Provided
Single Submitter

1 SubmittersRCV005360435

NM_003640.5(ELP1):c.3700+2T>C

SNV
Germline

Chr9:108878621

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617530

NM_003640.5(ELP1):c.3578C>G (p.Ser1193Ter)

SNV
Germline

Chr9:108878745

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617553

NM_003640.5(ELP1):c.649+1G>C

SNV
Germline

Chr9:108919252

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617554

NM_003640.5(ELP1):c.2074G>T (p.Glu692Ter)

SNV
Germline

Chr9:108900316

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617556

NM_003640.5(ELP1):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr9:108926598

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617585

NM_003640.5(ELP1):c.285C>A (p.Cys95Ter)

SNV
Germline

Chr9:108929787

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617590

NM_003640.5(ELP1):c.1854+1G>T

SNV
Germline

Chr9:108902838

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617600

NM_003640.5(ELP1):c.3573-2A>T

SNV
Germline

Chr9:108878752

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617607

NM_003640.5(ELP1):c.3445C>T (p.Gln1149Ter)

SNV
Germline

Chr9:108880067

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617618

NM_003640.5(ELP1):c.741-1G>C

SNV
Germline

Chr9:108917671

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617645

NM_003640.5(ELP1):c.3838C>T (p.Gln1280Ter)

SNV
Germline

Chr9:108878012

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617674

NM_003640.5(ELP1):c.1748G>A (p.Trp583Ter)

SNV
Germline

Chr9:108903565

Likely pathogenic

Familial dysautonomia

No Assertion Criteria Provided

1 SubmittersRCV005617684

NM_003640.5(ELP1):c.3379C>T (p.Gln1127Ter)

SNV
Germline

Chr9:108880133

Likely pathogenic

Medulloblastoma

Criteria Provided
Single Submitter

1 SubmittersRCV006454850

NM_003640.5(ELP1):c.993T>G (p.Tyr331Ter)

SNV
Germline

Chr9:108912460

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006514112

NM_003640.5(ELP1):c.1750G>T (p.Glu584Ter)

SNV
Germline

Chr9:108903563

Likely pathogenic

ELP1-Associated Medulloblastoma

Criteria Provided
Single Submitter

1 SubmittersRCV006554969

NM_003640.5(ELP1):c.2665G>T (p.Glu889Ter)

SNV
Germline

Chr9:108896567

Likely pathogenic

ELP1-Associated Medulloblastoma

Criteria Provided
Single Submitter

1 SubmittersRCV006554971

NM_003640.5(ELP1):c.2128C>T (p.Gln710Ter)

SNV
Germline

Chr9:108900262

Pathogenic

ELP1-Associated Medulloblastoma

Criteria Provided
Single Submitter

1 SubmittersRCV006554972

NM_003640.5(ELP1):c.1528G>T (p.Glu510Ter)

SNV
Germline

Chr9:108906418

Likely pathogenic

ELP1-Associated Medulloblastoma

Criteria Provided
Single Submitter

1 SubmittersRCV006554974

NM_003640.5(ELP1):c.3266G>A (p.Trp1089Ter)

SNV
Germline

Chr9:108882144

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006622221