Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)	SNV Germline	ChrX:19359613	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided See cases Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA121205	rs_137853250	9 SubmittersRCV000011620 RCV001267918 RCV002251895 RCV004955255
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)	SNV Germline	ChrX:19355713	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121213	rs_137853259	6 SubmittersRCV000011625 RCV000196576
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	SNV Germline	ChrX:19358920	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided Inborn genetic diseases PDHA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA121214	rs_137853252	11 SubmittersRCV000011626 RCV000199671 RCV000622696 RCV003407316
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)	SNV Germline	ChrX:19355699	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA121216	rs_137853253	2 SubmittersRCV000011628
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	SNV Germline	ChrX:19355360	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA121217	rs_137853254	4 SubmittersRCV000011629
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)	SNV Germline	ChrX:19355472	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA121218	rs_137853255	2 SubmittersRCV000011630
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)	SNV Germline	ChrX:19358959	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Single Submitter	CA121219	rs_137853256	3 SubmittersRCV000011631 RCV001268860
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)	SNV Germline	ChrX:19344066	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA121223	rs_137853257	2 SubmittersRCV000011634
NM_000284.4(PDHA1):c.863G>A (p.Arg288His)	SNV Germline	ChrX:19357683	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency PDHA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA121226	rs_137853258	5 SubmittersRCV000011637 RCV004748515
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)	SNV Germline	ChrX:19355393	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA121228	rs_121917898	2 SubmittersRCV000011640
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	SNV Germline	ChrX:19353146	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA220607	rs_398123300	6 SubmittersRCV000078557 RCV001218777
NM_000284.4(PDHA1):c.628A>G (p.Met210Val)	SNV Germline	ChrX:19355373	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA247055	rs_794727843	5 SubmittersRCV000179743 RCV002470795
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	SNV Germline	ChrX:19353085	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA203852	rs_794729213	6 SubmittersRCV000184034 RCV004589837
NM_000284.4(PDHA1):c.984T>C (p.Asn328=)	SNV Germline	ChrX:19359000	Conflicting classifications of pathogenicity	not specified Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208258	rs_767503319	4 SubmittersRCV000194225 RCV000899471 RCV001833137 RCV002381655
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	SNV Germline	ChrX:19350033	Likely pathogenic	Condition: not provided Inborn genetic diseases Pyruvate dehydrogenase E1-alpha deficiency Abnormality of the mitochondrion Pyruvate dehydrogenase complex deficiency	Reviewed By Expert Panel	CA320653	rs_863224148	9 SubmittersRCV000505722 RCV000624128 RCV000692713 RCV001814100 RCV001796727
NM_000284.4(PDHA1):c.292-1G>A	SNV Germline	ChrX:19351280	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA323036	rs_863224149	2 SubmittersRCV000198524 RCV001853189
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	SNV Germline	ChrX:19351368	Pathogenic/Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA321249	rs_199959402	8 SubmittersRCV001091314 RCV001731151
NM_000284.4(PDHA1):c.451G>A (p.Gly151Arg)	SNV Germline	ChrX:19353114	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided		rs_863224151	1 SubmittersRCV006262071
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	SNV Germline	ChrX:19353169	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency	Reviewed By Expert Panel	CA323959	rs_863224150	5 SubmittersRCV000199416 RCV000640506 RCV001526400
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu)	SNV Germline	ChrX:19355452	Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA321964	rs_863224145	2 SubmittersRCV000197492 RCV006261956
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)	SNV Germline	ChrX:19358926	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency	Reviewed By Expert Panel	CA321113	rs_863224146	6 SubmittersRCV000196688 RCV000760291 RCV001753598
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	SNV Germline	ChrX:19359612	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency SUDDEN INFANT DEATH SYNDROME Pyruvate dehydrogenase complex deficiency	Reviewed By Expert Panel	CA323094	rs_863224147	10 SubmittersRCV000198575 RCV000497402 RCV001788065 RCV001796726
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)	SNV Germline	ChrX:19359639	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA325044	rs_201156613	4 SubmittersRCV000200467 RCV001079335 RCV002363013
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg)	SNV Germline	ChrX:19355385	Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA10603797	rs_886042089	2 SubmittersRCV000292563 RCV006261965
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	SNV Germline	ChrX:19353170	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency Inborn genetic diseases PDHA1-related disorder	Criteria Provided Conflicting Classifications	CA10363043	rs_141862527	6 SubmittersRCV000725565 RCV001088476 RCV001835752 RCV002338844 RCV003920086
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)	SNV Germline	ChrX:19359525	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA10607080	rs_886044701	3 SubmittersRCV000407596 RCV003225059
NM_000284.4(PDHA1):c.292-23A>G	SNV Germline	ChrX:19351258	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA16043723	rs_1057518702	2 SubmittersRCV000415131
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)	SNV Germline	ChrX:19357652	Pathogenic/Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16608805	rs_1057521993	3 SubmittersRCV000427505 RCV001250113
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)	SNV Germline	ChrX:19358921	Pathogenic/Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16621292	rs_1064794149	6 SubmittersRCV000481593 RCV001216859
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu)	SNV Germline	ChrX:19355395	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA412394443	rs_1131691792	3 SubmittersRCV000494486 RCV006261971 RCV006362382
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)	SNV Unknown	ChrX:19353124	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393238	rs_1131692230	1 SubmittersRCV000495894
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser)	SNV Germline	ChrX:19351353	Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412391135	rs_1555933643	2 SubmittersRCV000497889 RCV006261972
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys)	SNV Germline	ChrX:19351398	Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412391372	rs_1555933663	2 SubmittersRCV000498478 RCV006261974
NM_000284.4(PDHA1):c.738C>T (p.Gly246=)	SNV Germline	ChrX:19355483	Pathogenic/Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA515486060	rs_1555934379	4 SubmittersRCV000498403 RCV000995830 RCV005899803
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val)	SNV Germline	ChrX:19355499	Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394691	rs_1555934383	2 SubmittersRCV000497732 RCV006261973
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)	SNV Germline	ChrX:19351395	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA10363031	rs_138727886	2 SubmittersRCV000513883 RCV001082627
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)	SNV Germline	ChrX:19353118	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393200	rs_1555933954	2 SubmittersRCV000578270
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	SNV Germline	ChrX:19353154	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided Pyruvate dehydrogenase complex deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412393370	rs_1555933963	11 SubmittersRCV000578359 RCV001091316 RCV001824834
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)	SNV Germline	ChrX:19354516	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393934	rs_1555934165	2 SubmittersRCV000578439
NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln)	SNV Germline	ChrX:19355361	Likely pathogenic	Inborn genetic diseases Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394283	rs_1555934336	2 SubmittersRCV000623785 RCV006261981
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	SNV Germline	ChrX:19353145	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412393316	rs_1569190962	5 SubmittersRCV000679874 RCV003313130
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)	SNV Germline	ChrX:19354503	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412393874	rs_1569191372	4 SubmittersRCV000680062
NM_000284.4(PDHA1):c.58-1G>A	SNV Germline	ChrX:19349311	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412389260	rs_1569189834	1 SubmittersRCV000688120
NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp)	SNV Germline	ChrX:19350044	Pathogenic	Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412390333	rs_1569190079	2 SubmittersRCV000770934 RCV006261987
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)	SNV Germline	ChrX:19355494	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394683	rs_1602227679	2 SubmittersRCV000789029
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)	SNV Germline	ChrX:19351308	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10363023	rs_764996618	3 SubmittersRCV000824394 RCV001271287 RCV005384880
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)	SNV Germline	ChrX:19355437	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412394554	rs_1272572107	3 SubmittersRCV000805497
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)	SNV Germline	ChrX:19357714	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency	Criteria Provided Conflicting Classifications	CA515486222	rs_1329322647	3 SubmittersRCV001166393 RCV001826985
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)	SNV Germline	ChrX:19344053	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10362907	rs_768396832	3 SubmittersRCV000990497 RCV004030119
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)	SNV Germline	ChrX:19355387	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394404	rs_1569191659	2 SubmittersRCV000995601
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)	SNV Unknown	ChrX:19359540	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412396586	rs_1157736285	1 SubmittersRCV001007886
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)	SNV Germline	ChrX:19355432	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394541	rs_2063189233	1 SubmittersRCV001067311
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)	SNV Germline	ChrX:19354502	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA10363057	rs_769308417	2 SubmittersRCV001090049
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)	SNV Germline	ChrX:19351369	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA412391206	rs_2063162114	5 SubmittersRCV001091315 RCV001542509 RCV005913639
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)	SNV Germline	ChrX:19355405	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10363077	rs_745607005	3 SubmittersRCV001166388 RCV002365816
NM_000284.4(PDHA1):c.*575T>C	SNV Germline	ChrX:19360228	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA327032079	rs_191995452	2 SubmittersRCV001168626 RCV003438708
NM_000284.4(PDHA1):c.57+2531T>C	SNV Unknown	ChrX:19346625	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412388079	rs_2063135938	1 SubmittersRCV001198456
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)	SNV Germline	ChrX:19357682	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412395201	rs_2063213272	3 SubmittersRCV001204675
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)	SNV Germline	ChrX:19359578	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412396847	rs_2063246734	1 SubmittersRCV001262561
NM_000284.4(PDHA1):c.499G>A (p.Val167Met)	SNV Germline	ChrX:19353162	Pathogenic/Likely pathogenic	Inborn genetic diseases Condition: not provided Neurodevelopmental delay Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412393429	rs_2063174067	4 SubmittersRCV001266517 RCV001586100 RCV002274173 RCV006261996
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)	SNV Germline	ChrX:19359580	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA412396868	rs_1131691584	2 SubmittersRCV001281574
NM_000284.4(PDHA1):c.899+2T>A	SNV Germline	ChrX:19357721	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA412395297	rs_2063213491	3 SubmittersRCV001329773 RCV005911081
NM_000284.4(PDHA1):c.899+4C>T	SNV Germline	ChrX:19357723	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10363142	rs_749903004	2 SubmittersRCV001468509 RCV002561295
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)	SNV Germline	ChrX:19355714	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA412394774	rs_2063192428	4 SubmittersRCV001542510 RCV002286846
NM_000284.4(PDHA1):c.498C>T (p.Ile166=)	SNV Germline	ChrX:19353161	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA515485902	rs_2147178249	3 SubmittersRCV001547760 RCV001824174
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)	SNV Germline	ChrX:19355713	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA412394772	rs_137853259	6 SubmittersRCV001550845 RCV001638161 RCV005385121
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)	SNV Germline	ChrX:19355473	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA412394631	rs_2147180935	2 SubmittersRCV001844384
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)	SNV Germline	ChrX:19355424	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394521	rs_2147180839	2 SubmittersRCV001706839
NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg)	SNV Germline	ChrX:19357691	Conflicting classifications of pathogenicity	Condition: not provided See cases Inborn genetic diseases Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA412395220	rs_2147184517	4 SubmittersRCV001756525 RCV004584228 RCV005382169 RCV006262000
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)	SNV Germline	ChrX:19354515	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA412393929	rs_2147179733	5 SubmittersRCV001765311 RCV002509694
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)	SNV Germline	ChrX:19351344	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412391097	rs_2147176072	5 SubmittersRCV001775392 RCV004697139
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)	SNV Unknown	ChrX:19355369	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394318	rs_2147180742	1 SubmittersRCV001775482
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	SNV Germline	ChrX:19355430	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394536	rs_2147180851	1 SubmittersRCV001782589
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)	SNV Germline	ChrX:19357688	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412395214	rs_2147184502	2 SubmittersRCV001785357
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)	SNV Germline	ChrX:19359616	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412397133	rs_2147189334	1 SubmittersRCV002249122
NM_000284.4(PDHA1):c.1072G>A (p.Glu358Lys)	SNV Germline	ChrX:19359552	Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412396646	rs_2147189180	2 SubmittersRCV002263537 RCV006262011
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)	SNV Germline	ChrX:19349352	Conflicting classifications of pathogenicity	See cases Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA10362983	rs_752678074	2 SubmittersRCV002287826 RCV003101652
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)	SNV Germline	ChrX:19355385	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394391	rs_886042089	2 SubmittersRCV002468760
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)	SNV Germline	ChrX:19355437	Conflicting classifications of pathogenicity	not specified Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA412394553	rs_1272572107	3 SubmittersRCV002469966 RCV003621670 RCV005869847
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)	SNV Germline	ChrX:19354498	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393855	rs_2518498635	1 SubmittersRCV002471390
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)	SNV Germline	ChrX:19354491	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393830	rs_1602226867	2 SubmittersRCV002470655
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)	SNV Germline	ChrX:19355398	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394454	rs_2518499712	1 SubmittersRCV002810656
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)	SNV Germline	ChrX:19355692	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA412394725	rs_2518500437	2 SubmittersRCV003219193
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)	SNV Germline	ChrX:19353128	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393249	rs_2518497064	2 SubmittersRCV003335786
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)	SNV Germline	ChrX:19355361	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394279	rs_1555934336	2 SubmittersRCV003335884
NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)	SNV Germline	ChrX:19350081	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA412390594	rs_2519339796	3 SubmittersRCV003443932 RCV004763690
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)	SNV Germline	ChrX:19359629	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412397253	rs_2518508016	2 SubmittersRCV003885343 RCV006251249
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)	SNV Germline	ChrX:19355714	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394773	rs_2063192428	2 SubmittersRCV003510915
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)	SNV Germline	ChrX:19351372	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412391222	rs_2519341308	2 SubmittersRCV003509039
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)	SNV Germline	ChrX:19354495	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393848	rs_2518498625	2 SubmittersRCV003509040
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)	SNV Germline	ChrX:19359005	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412396262	rs_2063233462	2 SubmittersRCV003509041
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)	SNV Germline	ChrX:19359628	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412397247	rs_2518508012	2 SubmittersRCV003509042
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)	SNV Germline	ChrX:19355714	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394775	rs_2063192428	1 SubmittersRCV003510007
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)	SNV Germline	ChrX:19355358	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412394264	rs_2518499632	2 SubmittersRCV003621954
NM_000284.4(PDHA1):c.899+2T>C	SNV Germline	ChrX:19357721	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412395294	rs_2063213491	1 SubmittersRCV003623453
NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)	SNV Germline	ChrX:19350079	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412390591	rs_2519339792	1 SubmittersRCV003985123
NM_000284.4(PDHA1):c.677G>A (p.Arg226His)	SNV Germline	ChrX:19355422	Likely pathogenic	Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			2 SubmittersRCV004766779 RCV006262024
NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)	SNV Germline	ChrX:19355478	Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			2 SubmittersRCV004784260 RCV006262025
NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)	SNV Germline	ChrX:19355493	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			2 SubmittersRCV005041722
NM_000284.4(PDHA1):c.490A>G (p.Asn164Asp)	SNV Germline	ChrX:19353153	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005255260
NM_000284.4(PDHA1):c.947C>T (p.Pro316Leu)	SNV Germline	ChrX:19358963	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			2 SubmittersRCV005256366 RCV006262028
NM_000284.4(PDHA1):c.520G>C (p.Gly174Arg)	SNV Germline	ChrX:19354500	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005432235
NM_000284.4(PDHA1):c.986T>G (p.Leu329Arg)	SNV Germline	ChrX:19359002	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262033
NM_000284.4(PDHA1):c.1051C>T (p.Gln351Ter)	SNV Germline	ChrX:19359531	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262036
NM_000284.4(PDHA1):c.149C>G (p.Pro50Arg)	SNV Germline	ChrX:19349968	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262042
NM_000284.4(PDHA1):c.212T>C (p.Val71Ala)	SNV Germline	ChrX:19350031	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262044
NM_000284.4(PDHA1):c.224A>C (p.Glu75Ala)	SNV Germline	ChrX:19350043	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262045
NM_000284.4(PDHA1):c.224A>T (p.Glu75Val)	SNV Germline	ChrX:19350043	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262046
NM_000284.4(PDHA1):c.224A>G (p.Glu75Gly)	SNV Germline	ChrX:19350043	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262047
NM_000284.4(PDHA1):c.269T>C (p.Phe90Ser)	SNV Germline	ChrX:19350088	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262049
NM_000284.4(PDHA1):c.272G>C (p.Cys91Ser)	SNV Germline	ChrX:19350091	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262050
NM_000284.4(PDHA1):c.291G>A (p.Gln97=)	SNV Germline	ChrX:19350110	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262051
NM_000284.4(PDHA1):c.291+5G>A	SNV Germline	ChrX:19350115	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262052
NM_000284.4(PDHA1):c.301T>C (p.Cys101Arg)	SNV Germline	ChrX:19351290	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262053
NM_000284.4(PDHA1):c.329C>A (p.Pro110His)	SNV Germline	ChrX:19351318	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262054
NM_000284.4(PDHA1):c.332C>T (p.Thr111Ile)	SNV Germline	ChrX:19351321	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262055
NM_000284.4(PDHA1):c.335A>G (p.Asp112Gly)	SNV Germline	ChrX:19351324	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262056
NM_000284.4(PDHA1):c.363C>A (p.His121Gln)	SNV Germline	ChrX:19351352	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262057
NM_000284.4(PDHA1):c.364G>C (p.Gly122Arg)	SNV Germline	ChrX:19351353	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262058
NM_000284.4(PDHA1):c.394C>T (p.Arg132Ter)	SNV Germline	ChrX:19351383	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262059
NM_000284.4(PDHA1):c.409G>C (p.Glu137Gln)	SNV Germline	ChrX:19351398	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262060
NM_000284.4(PDHA1):c.412C>T (p.Leu138Phe)	SNV Germline	ChrX:19351401	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			2 SubmittersRCV005623617 RCV006262061
NM_000284.4(PDHA1):c.416C>G (p.Thr139Arg)	SNV Germline	ChrX:19351405	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262062
NM_000284.4(PDHA1):c.419-2A>G	SNV Germline	ChrX:19353080	Pathogenic	Thyroid cancer, nonmedullary, 1 Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			2 SubmittersRCV005934589 RCV006262064
NM_000284.4(PDHA1):c.421C>T (p.Arg141Ter)	SNV Germline	ChrX:19353084	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262065
NM_000284.4(PDHA1):c.430G>C (p.Gly144Arg)	SNV Germline	ChrX:19353093	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262067
NM_000284.4(PDHA1):c.431G>A (p.Gly144Asp)	SNV Germline	ChrX:19353094	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262068
NM_000284.4(PDHA1):c.449G>A (p.Gly150Glu)	SNV Germline	ChrX:19353112	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262070
NM_000284.4(PDHA1):c.454T>C (p.Ser152Pro)	SNV Germline	ChrX:19353117	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262072
NM_000284.4(PDHA1):c.454T>A (p.Ser152Thr)	SNV Germline	ChrX:19353117	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262073
NM_000284.4(PDHA1):c.457A>G (p.Met153Val)	SNV Germline	ChrX:19353120	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262074
NM_000284.4(PDHA1):c.495C>T (p.Gly165=)	SNV Germline	ChrX:19353158	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262077
NM_000284.4(PDHA1):c.499G>T (p.Val167Leu)	SNV Germline	ChrX:19353162	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262078
NM_000284.4(PDHA1):c.511-30G>A	SNV Germline	ChrX:19354461	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262080
NM_000284.4(PDHA1):c.511G>C (p.Val171Leu)	SNV Germline	ChrX:19354491	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262081
NM_000284.4(PDHA1):c.523G>C (p.Ala175Pro)	SNV Germline	ChrX:19354503	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262083
NM_000284.4(PDHA1):c.530T>C (p.Ile177Thr)	SNV Germline	ChrX:19354510	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262084
NM_000284.4(PDHA1):c.562G>A (p.Glu188Lys)	SNV Germline	ChrX:19354542	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262086
NM_000284.4(PDHA1):c.586G>A (p.Asp196Asn)	SNV Germline	ChrX:19354566	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262087
NM_000284.4(PDHA1):c.593C>T (p.Ala198Val)	SNV Germline	ChrX:19354573	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262088
NM_000284.4(PDHA1):c.595G>A (p.Ala199Thr)	SNV Germline	ChrX:19354575	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262089
NM_000284.4(PDHA1):c.599A>C (p.Asn200Thr)	SNV Germline	ChrX:19354579	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262090
NM_000284.4(PDHA1):c.604-10C>G	SNV Germline	ChrX:19355339	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262091
NM_000284.4(PDHA1):c.616G>T (p.Glu206Ter)	SNV Germline	ChrX:19355361	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262093
NM_000284.4(PDHA1):c.619G>C (p.Ala207Pro)	SNV Germline	ChrX:19355364	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262094
NM_000284.4(PDHA1):c.626A>G (p.Asn209Ser)	SNV Germline	ChrX:19355371	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262095
NM_000284.4(PDHA1):c.629T>C (p.Met210Thr)	SNV Germline	ChrX:19355374	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262096
NM_000284.4(PDHA1):c.643A>C (p.Lys215Gln)	SNV Germline	ChrX:19355388	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262097
NM_000284.4(PDHA1):c.649C>G (p.Pro217Ala)	SNV Germline	ChrX:19355394	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262098
NM_000284.4(PDHA1):c.649C>A (p.Pro217Thr)	SNV Germline	ChrX:19355394	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262099
NM_000284.4(PDHA1):c.650C>G (p.Pro217Arg)	SNV Germline	ChrX:19355395	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262100
NM_000284.4(PDHA1):c.680A>G (p.Tyr227Cys)	SNV Germline	ChrX:19355425	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262102
NM_000284.4(PDHA1):c.688G>A (p.Gly230Arg)	SNV Germline	ChrX:19355433	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262103
NM_000284.4(PDHA1):c.691A>G (p.Thr231Ala)	SNV Germline	ChrX:19355436	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262104
NM_000284.4(PDHA1):c.692C>A (p.Thr231Lys)	SNV Germline	ChrX:19355437	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262105
NM_000284.4(PDHA1):c.703A>G (p.Arg235Gly)	SNV Germline	ChrX:19355448	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262107
NM_000284.4(PDHA1):c.728A>C (p.Tyr243Ser)	SNV Germline	ChrX:19355473	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262109
NM_000284.4(PDHA1):c.729C>A (p.Tyr243Ter)	SNV Germline	ChrX:19355474	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262110
NM_000284.4(PDHA1):c.757A>G (p.Arg253Gly)	SNV Germline	ChrX:19355502	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262112
NM_000284.4(PDHA1):c.760-2A>G	SNV Germline	ChrX:19355684	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262113
NM_000284.4(PDHA1):c.778C>G (p.Leu260Val)	SNV Germline	ChrX:19355704	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262115
NM_000284.4(PDHA1):c.784G>C (p.Val262Leu)	SNV Germline	ChrX:19355710	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262116
NM_000284.4(PDHA1):c.832G>C (p.Gly278Arg)	SNV Germline	ChrX:19357652	Likely pathogenic	Thyroid cancer, nonmedullary, 1 Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			2 SubmittersRCV005934590 RCV006262117
NM_000284.4(PDHA1):c.833G>A (p.Gly278Glu)	SNV Germline	ChrX:19357653	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262118
NM_000284.4(PDHA1):c.844A>G (p.Met282Val)	SNV Germline	ChrX:19357664	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262119
NM_000284.4(PDHA1):c.845T>G (p.Met282Arg)	SNV Germline	ChrX:19357665	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262121
NM_000284.4(PDHA1):c.862C>A (p.Arg288Ser)	SNV Germline	ChrX:19357682	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262123
NM_000284.4(PDHA1):c.863G>T (p.Arg288Leu)	SNV Germline	ChrX:19357683	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262124
NM_000284.4(PDHA1):c.869A>C (p.His290Pro)	SNV Germline	ChrX:19357689	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262125
NM_000284.4(PDHA1):c.875A>T (p.His292Leu)	SNV Germline	ChrX:19357695	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262126
NM_000284.4(PDHA1):c.888C>G (p.Asp296Glu)	SNV Germline	ChrX:19357708	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262127
NM_000284.4(PDHA1):c.886G>A (p.Asp296Asn)	SNV Germline	ChrX:19357706	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262128
NM_000284.4(PDHA1):c.892G>A (p.Gly298Arg)	SNV Germline	ChrX:19357712	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262129
NM_000284.4(PDHA1):c.893G>A (p.Gly298Glu)	SNV Germline	ChrX:19357713	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262130
NM_000284.4(PDHA1):c.900-1G>A	SNV Germline	ChrX:19358915	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262139
NM_000284.4(PDHA1):c.905G>T (p.Arg302Leu)	SNV Germline	ChrX:19358921	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262143
NM_000284.4(PDHA1):c.940A>T (p.Ser314Cys)	SNV Germline	ChrX:19358956	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262153
NM_000284.4(PDHA1):c.592G>A (p.Ala198Thr)	SNV Germline	ChrX:19354572	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262154
NM_000284.4(PDHA1):c.1052A>C (p.Gln351Pro)	SNV Germline	ChrX:19359532	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262178
NM_000284.4(PDHA1):c.1057G>A (p.Ala353Thr)	SNV Germline	ChrX:19359537	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262180
NM_000284.4(PDHA1):c.1057G>C (p.Ala353Pro)	SNV Germline	ChrX:19359537	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262181
NM_000284.4(PDHA1):c.262C>A (p.Arg88Ser)	SNV Germline	ChrX:19350081	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262189
NM_000284.4(PDHA1):c.302G>T (p.Cys101Phe)	SNV Germline	ChrX:19351291	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262198
NM_000284.4(PDHA1):c.1100A>G (p.His367Arg)	SNV Germline	ChrX:19359580	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262200
NM_000284.4(PDHA1):c.1105T>C (p.Tyr369His)	SNV Germline	ChrX:19359585	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262204
NM_000284.4(PDHA1):c.410A>G (p.Glu137Gly)	SNV Germline	ChrX:19351399	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262218
NM_000284.4(PDHA1):c.1144C>T (p.Gln382Ter)	SNV Germline	ChrX:19359624	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262221
NM_000284.4(PDHA1):c.1147T>C (p.Trp383Arg)	SNV Germline	ChrX:19359627	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262223
NM_000284.4(PDHA1):c.1162T>C (p.Ser388Pro)	SNV Germline	ChrX:19359642	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262226
NM_000284.4(PDHA1):c.1163C>A (p.Ser388Ter)	SNV Germline	ChrX:19359643	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262228
NM_000284.4(PDHA1):c.883A>G (p.Ser295Gly)	SNV Germline	ChrX:19357703	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262229
NM_000284.4(PDHA1):c.131A>G (p.His44Arg)	SNV Germline	ChrX:19349950	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262230
NM_000284.4(PDHA1):c.148C>T (p.Pro50Ser)	SNV Germline	ChrX:19349967	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262231
NM_000284.4(PDHA1):c.292-2A>G	SNV Germline	ChrX:19351279	Pathogenic	Nonpapillary renal cell carcinoma Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			2 SubmittersRCV005934591 RCV006262232
NM_000284.4(PDHA1):c.407C>T (p.Ala136Val)	SNV Germline	ChrX:19351396	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262233
NM_000284.4(PDHA1):c.464T>C (p.Met155Thr)	SNV Germline	ChrX:19353127	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262234
NM_000284.4(PDHA1):c.484G>A (p.Gly162Arg)	SNV Germline	ChrX:19353147	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262235
NM_000284.4(PDHA1):c.615C>A (p.Phe205Leu)	SNV Germline	ChrX:19355360	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262236
NM_000284.4(PDHA1):c.831+1G>A	SNV Germline	ChrX:19355758	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262237
NM_000284.4(PDHA1):c.261T>G (p.Ile87Met)	SNV Germline	ChrX:19350080	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262241
NM_000284.4(PDHA1):c.337C>G (p.His113Asp)	SNV Germline	ChrX:19351326	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262243
NM_000284.4(PDHA1):c.421C>G (p.Arg141Gly)	SNV Germline	ChrX:19353084	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262244
NM_000284.4(PDHA1):c.422G>T (p.Arg141Leu)	SNV Germline	ChrX:19353085	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262245
NM_000284.4(PDHA1):c.430G>A (p.Gly144Ser)	SNV Germline	ChrX:19353093	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262246
NM_000284.4(PDHA1):c.442G>A (p.Gly148Arg)	SNV Germline	ChrX:19353105	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262247
NM_000284.4(PDHA1):c.542G>A (p.Cys181Tyr)	SNV Germline	ChrX:19354522	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262249
NM_000284.4(PDHA1):c.555A>G (p.Gly185=)	SNV Germline	ChrX:19354535	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262250
NM_000284.4(PDHA1):c.584G>C (p.Gly195Ala)	SNV Germline	ChrX:19354564	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262251
NM_000284.4(PDHA1):c.647T>C (p.Leu216Ser)	SNV Germline	ChrX:19355392	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262252
NM_000284.4(PDHA1):c.687G>A (p.Met229Ile)	SNV Germline	ChrX:19355432	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262253
NM_000284.4(PDHA1):c.847G>A (p.Glu283Lys)	SNV Germline	ChrX:19357667	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262255
NM_000284.4(PDHA1):c.853C>T (p.Gln285Ter)	SNV Germline	ChrX:19357673	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262256
NM_000284.4(PDHA1):c.899+1G>C	SNV Germline	ChrX:19357720	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262258
NM_000284.4(PDHA1):c.924G>T (p.Gln308His)	SNV Germline	ChrX:19358940	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided			1 SubmittersRCV006262260

NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)

SNV
Germline

ChrX:19359613

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided
See cases
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA121205

rs_137853250

9 SubmittersRCV000011620 RCV001267918 RCV002251895 RCV004955255

NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)

SNV
Germline

ChrX:19355713

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121213

rs_137853259

6 SubmittersRCV000011625 RCV000196576

NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)

SNV
Germline

ChrX:19358920

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided
Inborn genetic diseases
PDHA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA121214

rs_137853252

11 SubmittersRCV000011626 RCV000199671 RCV000622696 RCV003407316

NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)

SNV
Germline

ChrX:19355699

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA121216

rs_137853253

2 SubmittersRCV000011628

NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)

SNV
Germline

ChrX:19355360

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA121217

rs_137853254

4 SubmittersRCV000011629

NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)

SNV
Germline

ChrX:19355472

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA121218

rs_137853255

2 SubmittersRCV000011630

NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)

SNV
Germline

ChrX:19358959

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA121219

rs_137853256

3 SubmittersRCV000011631 RCV001268860

NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)

SNV
Germline

ChrX:19344066

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA121223

rs_137853257

2 SubmittersRCV000011634

NM_000284.4(PDHA1):c.863G>A (p.Arg288His)

SNV
Germline

ChrX:19357683

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
PDHA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA121226

rs_137853258

5 SubmittersRCV000011637 RCV004748515

NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)

SNV
Germline

ChrX:19355393

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA121228

rs_121917898

2 SubmittersRCV000011640

NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)

SNV
Germline

ChrX:19353146

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA220607

rs_398123300

6 SubmittersRCV000078557 RCV001218777

NM_000284.4(PDHA1):c.628A>G (p.Met210Val)

SNV
Germline

ChrX:19355373

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA247055

rs_794727843

5 SubmittersRCV000179743 RCV002470795

NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)

SNV
Germline

ChrX:19353085

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA203852

rs_794729213

6 SubmittersRCV000184034 RCV004589837

NM_000284.4(PDHA1):c.984T>C (p.Asn328=)

SNV
Germline

ChrX:19359000

Conflicting classifications of pathogenicity

not specified
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208258

rs_767503319

4 SubmittersRCV000194225 RCV000899471 RCV001833137 RCV002381655

NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)

SNV
Germline

ChrX:19350033

Likely pathogenic

Condition: not provided
Inborn genetic diseases
Pyruvate dehydrogenase E1-alpha deficiency
Abnormality of the mitochondrion
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA320653

rs_863224148

9 SubmittersRCV000505722 RCV000624128 RCV000692713 RCV001814100 RCV001796727

NM_000284.4(PDHA1):c.292-1G>A

SNV
Germline

ChrX:19351280

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA323036

rs_863224149

2 SubmittersRCV000198524 RCV001853189

NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)

SNV
Germline

ChrX:19351368

Pathogenic/Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA321249

rs_199959402

8 SubmittersRCV001091314 RCV001731151

NM_000284.4(PDHA1):c.451G>A (p.Gly151Arg)

SNV
Germline

ChrX:19353114

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

rs_863224151

1 SubmittersRCV006262071

NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)

SNV
Germline

ChrX:19353169

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA323959

rs_863224150

5 SubmittersRCV000199416 RCV000640506 RCV001526400

NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu)

SNV
Germline

ChrX:19355452

Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA321964

rs_863224145

2 SubmittersRCV000197492 RCV006261956

NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)

SNV
Germline

ChrX:19358926

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA321113

rs_863224146

6 SubmittersRCV000196688 RCV000760291 RCV001753598

NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)

SNV
Germline

ChrX:19359612

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
SUDDEN INFANT DEATH SYNDROME
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA323094

rs_863224147

10 SubmittersRCV000198575 RCV000497402 RCV001788065 RCV001796726

NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)

SNV
Germline

ChrX:19359639

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA325044

rs_201156613

4 SubmittersRCV000200467 RCV001079335 RCV002363013

NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg)

SNV
Germline

ChrX:19355385

Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA10603797

rs_886042089

2 SubmittersRCV000292563 RCV006261965

NM_000284.4(PDHA1):c.507G>A (p.Ala169=)

SNV
Germline

ChrX:19353170

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases
PDHA1-related disorder

Criteria Provided
Conflicting Classifications

CA10363043

rs_141862527

6 SubmittersRCV000725565 RCV001088476 RCV001835752 RCV002338844 RCV003920086

NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)

SNV
Germline

ChrX:19359525

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA10607080

rs_886044701

3 SubmittersRCV000407596 RCV003225059

NM_000284.4(PDHA1):c.292-23A>G

SNV
Germline

ChrX:19351258

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA16043723

rs_1057518702

2 SubmittersRCV000415131

NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)

SNV
Germline

ChrX:19357652

Pathogenic/Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16608805

rs_1057521993

3 SubmittersRCV000427505 RCV001250113

NM_000284.4(PDHA1):c.905G>A (p.Arg302His)

SNV
Germline

ChrX:19358921

Pathogenic/Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16621292

rs_1064794149

6 SubmittersRCV000481593 RCV001216859

NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu)

SNV
Germline

ChrX:19355395

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA412394443

rs_1131691792

3 SubmittersRCV000494486 RCV006261971 RCV006362382

NM_000284.4(PDHA1):c.461A>G (p.His154Arg)

SNV
Unknown

ChrX:19353124

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393238

rs_1131692230

1 SubmittersRCV000495894

NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser)

SNV
Germline

ChrX:19351353

Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412391135

rs_1555933643

2 SubmittersRCV000497889 RCV006261972

NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys)

SNV
Germline

ChrX:19351398

Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412391372

rs_1555933663

2 SubmittersRCV000498478 RCV006261974

NM_000284.4(PDHA1):c.738C>T (p.Gly246=)

SNV
Germline

ChrX:19355483

Pathogenic/Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA515486060

rs_1555934379

4 SubmittersRCV000498403 RCV000995830 RCV005899803

NM_000284.4(PDHA1):c.754C>G (p.Leu252Val)

SNV
Germline

ChrX:19355499

Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394691

rs_1555934383

2 SubmittersRCV000497732 RCV006261973

NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)

SNV
Germline

ChrX:19351395

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA10363031

rs_138727886

2 SubmittersRCV000513883 RCV001082627

NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)

SNV
Germline

ChrX:19353118

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393200

rs_1555933954

2 SubmittersRCV000578270

NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)

SNV
Germline

ChrX:19353154

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided
Pyruvate dehydrogenase complex deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412393370

rs_1555933963

11 SubmittersRCV000578359 RCV001091316 RCV001824834

NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)

SNV
Germline

ChrX:19354516

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393934

rs_1555934165

2 SubmittersRCV000578439

NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln)

SNV
Germline

ChrX:19355361

Likely pathogenic

Inborn genetic diseases
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394283

rs_1555934336

2 SubmittersRCV000623785 RCV006261981

NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)

SNV
Germline

ChrX:19353145

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412393316

rs_1569190962

5 SubmittersRCV000679874 RCV003313130

NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)

SNV
Germline

ChrX:19354503

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412393874

rs_1569191372

4 SubmittersRCV000680062

NM_000284.4(PDHA1):c.58-1G>A

SNV
Germline

ChrX:19349311

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412389260

rs_1569189834

1 SubmittersRCV000688120

NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp)

SNV
Germline

ChrX:19350044

Pathogenic

Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412390333

rs_1569190079

2 SubmittersRCV000770934 RCV006261987

NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)

SNV
Germline

ChrX:19355494

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394683

rs_1602227679

2 SubmittersRCV000789029

NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)

SNV
Germline

ChrX:19351308

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10363023

rs_764996618

3 SubmittersRCV000824394 RCV001271287 RCV005384880

NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)

SNV
Germline

ChrX:19355437

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412394554

rs_1272572107

3 SubmittersRCV000805497

NM_000284.4(PDHA1):c.894A>G (p.Gly298=)

SNV
Germline

ChrX:19357714

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency

Criteria Provided
Conflicting Classifications

CA515486222

rs_1329322647

3 SubmittersRCV001166393 RCV001826985

NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)

SNV
Germline

ChrX:19344053

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10362907

rs_768396832

3 SubmittersRCV000990497 RCV004030119

NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)

SNV
Germline

ChrX:19355387

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394404

rs_1569191659

2 SubmittersRCV000995601

NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)

SNV
Unknown

ChrX:19359540

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412396586

rs_1157736285

1 SubmittersRCV001007886

NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)

SNV
Germline

ChrX:19355432

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394541

rs_2063189233

1 SubmittersRCV001067311

NM_000284.4(PDHA1):c.522C>T (p.Gly174=)

SNV
Germline

ChrX:19354502

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA10363057

rs_769308417

2 SubmittersRCV001090049

NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)

SNV
Germline

ChrX:19351369

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412391206

rs_2063162114

5 SubmittersRCV001091315 RCV001542509 RCV005913639

NM_000284.4(PDHA1):c.660C>T (p.Phe220=)

SNV
Germline

ChrX:19355405

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10363077

rs_745607005

3 SubmittersRCV001166388 RCV002365816

NM_000284.4(PDHA1):c.*575T>C

SNV
Germline

ChrX:19360228

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA327032079

rs_191995452

2 SubmittersRCV001168626 RCV003438708

NM_000284.4(PDHA1):c.57+2531T>C

SNV
Unknown

ChrX:19346625

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412388079

rs_2063135938

1 SubmittersRCV001198456

NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)

SNV
Germline

ChrX:19357682

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412395201

rs_2063213272

3 SubmittersRCV001204675

NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)

SNV
Germline

ChrX:19359578

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412396847

rs_2063246734

1 SubmittersRCV001262561

NM_000284.4(PDHA1):c.499G>A (p.Val167Met)

SNV
Germline

ChrX:19353162

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided
Neurodevelopmental delay
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412393429

rs_2063174067

4 SubmittersRCV001266517 RCV001586100 RCV002274173 RCV006261996

NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)

SNV
Germline

ChrX:19359580

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA412396868

rs_1131691584

2 SubmittersRCV001281574

NM_000284.4(PDHA1):c.899+2T>A

SNV
Germline

ChrX:19357721

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA412395297

rs_2063213491

3 SubmittersRCV001329773 RCV005911081

NM_000284.4(PDHA1):c.899+4C>T

SNV
Germline

ChrX:19357723

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10363142

rs_749903004

2 SubmittersRCV001468509 RCV002561295

NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)

SNV
Germline

ChrX:19355714

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412394774

rs_2063192428

4 SubmittersRCV001542510 RCV002286846

NM_000284.4(PDHA1):c.498C>T (p.Ile166=)

SNV
Germline

ChrX:19353161

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA515485902

rs_2147178249

3 SubmittersRCV001547760 RCV001824174

NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)

SNV
Germline

ChrX:19355713

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA412394772

rs_137853259

6 SubmittersRCV001550845 RCV001638161 RCV005385121

NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)

SNV
Germline

ChrX:19355473

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA412394631

rs_2147180935

2 SubmittersRCV001844384

NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)

SNV
Germline

ChrX:19355424

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394521

rs_2147180839

2 SubmittersRCV001706839

NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg)

SNV
Germline

ChrX:19357691

Conflicting classifications of pathogenicity

Condition: not provided
See cases
Inborn genetic diseases
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA412395220

rs_2147184517

4 SubmittersRCV001756525 RCV004584228 RCV005382169 RCV006262000

NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)

SNV
Germline

ChrX:19354515

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA412393929

rs_2147179733

5 SubmittersRCV001765311 RCV002509694

NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)

SNV
Germline

ChrX:19351344

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412391097

rs_2147176072

5 SubmittersRCV001775392 RCV004697139

NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)

SNV
Unknown

ChrX:19355369

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394318

rs_2147180742

1 SubmittersRCV001775482

NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)

SNV
Germline

ChrX:19355430

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394536

rs_2147180851

1 SubmittersRCV001782589

NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)

SNV
Germline

ChrX:19357688

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412395214

rs_2147184502

2 SubmittersRCV001785357

NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)

SNV
Germline

ChrX:19359616

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412397133

rs_2147189334

1 SubmittersRCV002249122

NM_000284.4(PDHA1):c.1072G>A (p.Glu358Lys)

SNV
Germline

ChrX:19359552

Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412396646

rs_2147189180

2 SubmittersRCV002263537 RCV006262011

NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)

SNV
Germline

ChrX:19349352

Conflicting classifications of pathogenicity

See cases
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA10362983

rs_752678074

2 SubmittersRCV002287826 RCV003101652

NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)

SNV
Germline

ChrX:19355385

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394391

rs_886042089

2 SubmittersRCV002468760

NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)

SNV
Germline

ChrX:19355437

Conflicting classifications of pathogenicity

not specified
Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412394553

rs_1272572107

3 SubmittersRCV002469966 RCV003621670 RCV005869847

NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)

SNV
Germline

ChrX:19354498

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393855

rs_2518498635

1 SubmittersRCV002471390

NM_000284.4(PDHA1):c.511G>A (p.Val171Met)

SNV
Germline

ChrX:19354491

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393830

rs_1602226867

2 SubmittersRCV002470655

NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)

SNV
Germline

ChrX:19355398

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394454

rs_2518499712

1 SubmittersRCV002810656

NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)

SNV
Germline

ChrX:19355692

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA412394725

rs_2518500437

2 SubmittersRCV003219193

NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)

SNV
Germline

ChrX:19353128

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393249

rs_2518497064

2 SubmittersRCV003335786

NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)

SNV
Germline

ChrX:19355361

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394279

rs_1555934336

2 SubmittersRCV003335884

NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)

SNV
Germline

ChrX:19350081

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA412390594

rs_2519339796

3 SubmittersRCV003443932 RCV004763690

NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)

SNV
Germline

ChrX:19359629

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412397253

rs_2518508016

2 SubmittersRCV003885343 RCV006251249

NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)

SNV
Germline

ChrX:19355714

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394773

rs_2063192428

2 SubmittersRCV003510915

NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)

SNV
Germline

ChrX:19351372

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412391222

rs_2519341308

2 SubmittersRCV003509039

NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)

SNV
Germline

ChrX:19354495

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393848

rs_2518498625

2 SubmittersRCV003509040

NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)

SNV
Germline

ChrX:19359005

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412396262

rs_2063233462

2 SubmittersRCV003509041

NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)

SNV
Germline

ChrX:19359628

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412397247

rs_2518508012

2 SubmittersRCV003509042

NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)

SNV
Germline

ChrX:19355714

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394775

rs_2063192428

1 SubmittersRCV003510007

NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)

SNV
Germline

ChrX:19355358

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412394264

rs_2518499632

2 SubmittersRCV003621954

NM_000284.4(PDHA1):c.899+2T>C

SNV
Germline

ChrX:19357721

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412395294

rs_2063213491

1 SubmittersRCV003623453

NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)

SNV
Germline

ChrX:19350079

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412390591

rs_2519339792

1 SubmittersRCV003985123

NM_000284.4(PDHA1):c.677G>A (p.Arg226His)

SNV
Germline

ChrX:19355422

Likely pathogenic

Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

2 SubmittersRCV004766779 RCV006262024

NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)

SNV
Germline

ChrX:19355478

Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

2 SubmittersRCV004784260 RCV006262025

NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)

SNV
Germline

ChrX:19355493

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

2 SubmittersRCV005041722

NM_000284.4(PDHA1):c.490A>G (p.Asn164Asp)

SNV
Germline

ChrX:19353153

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005255260

NM_000284.4(PDHA1):c.947C>T (p.Pro316Leu)

SNV
Germline

ChrX:19358963

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

2 SubmittersRCV005256366 RCV006262028

NM_000284.4(PDHA1):c.520G>C (p.Gly174Arg)

SNV
Germline

ChrX:19354500

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005432235

NM_000284.4(PDHA1):c.986T>G (p.Leu329Arg)

SNV
Germline

ChrX:19359002

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262033

NM_000284.4(PDHA1):c.1051C>T (p.Gln351Ter)

SNV
Germline

ChrX:19359531

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262036

NM_000284.4(PDHA1):c.149C>G (p.Pro50Arg)

SNV
Germline

ChrX:19349968

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262042

NM_000284.4(PDHA1):c.212T>C (p.Val71Ala)

SNV
Germline

ChrX:19350031

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262044

NM_000284.4(PDHA1):c.224A>C (p.Glu75Ala)

SNV
Germline

ChrX:19350043

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262045

NM_000284.4(PDHA1):c.224A>T (p.Glu75Val)

SNV
Germline

ChrX:19350043

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262046

NM_000284.4(PDHA1):c.224A>G (p.Glu75Gly)

SNV
Germline

ChrX:19350043

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262047

NM_000284.4(PDHA1):c.269T>C (p.Phe90Ser)

SNV
Germline

ChrX:19350088

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262049

NM_000284.4(PDHA1):c.272G>C (p.Cys91Ser)

SNV
Germline

ChrX:19350091

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262050

NM_000284.4(PDHA1):c.291G>A (p.Gln97=)

SNV
Germline

ChrX:19350110

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262051

NM_000284.4(PDHA1):c.291+5G>A

SNV
Germline

ChrX:19350115

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262052

NM_000284.4(PDHA1):c.301T>C (p.Cys101Arg)

SNV
Germline

ChrX:19351290

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262053

NM_000284.4(PDHA1):c.329C>A (p.Pro110His)

SNV
Germline

ChrX:19351318

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262054

NM_000284.4(PDHA1):c.332C>T (p.Thr111Ile)

SNV
Germline

ChrX:19351321

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262055

NM_000284.4(PDHA1):c.335A>G (p.Asp112Gly)

SNV
Germline

ChrX:19351324

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262056

NM_000284.4(PDHA1):c.363C>A (p.His121Gln)

SNV
Germline

ChrX:19351352

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262057

NM_000284.4(PDHA1):c.364G>C (p.Gly122Arg)

SNV
Germline

ChrX:19351353

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262058

NM_000284.4(PDHA1):c.394C>T (p.Arg132Ter)

SNV
Germline

ChrX:19351383

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262059

NM_000284.4(PDHA1):c.409G>C (p.Glu137Gln)

SNV
Germline

ChrX:19351398

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262060

NM_000284.4(PDHA1):c.412C>T (p.Leu138Phe)

SNV
Germline

ChrX:19351401

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

2 SubmittersRCV005623617 RCV006262061

NM_000284.4(PDHA1):c.416C>G (p.Thr139Arg)

SNV
Germline

ChrX:19351405

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262062

NM_000284.4(PDHA1):c.419-2A>G

SNV
Germline

ChrX:19353080

Pathogenic

Thyroid cancer, nonmedullary, 1
Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

2 SubmittersRCV005934589 RCV006262064

NM_000284.4(PDHA1):c.421C>T (p.Arg141Ter)

SNV
Germline

ChrX:19353084

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262065

NM_000284.4(PDHA1):c.430G>C (p.Gly144Arg)

SNV
Germline

ChrX:19353093

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262067

NM_000284.4(PDHA1):c.431G>A (p.Gly144Asp)

SNV
Germline

ChrX:19353094

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262068

NM_000284.4(PDHA1):c.449G>A (p.Gly150Glu)

SNV
Germline

ChrX:19353112

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262070

NM_000284.4(PDHA1):c.454T>C (p.Ser152Pro)

SNV
Germline

ChrX:19353117

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262072

NM_000284.4(PDHA1):c.454T>A (p.Ser152Thr)

SNV
Germline

ChrX:19353117

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262073

NM_000284.4(PDHA1):c.457A>G (p.Met153Val)

SNV
Germline

ChrX:19353120

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262074

NM_000284.4(PDHA1):c.495C>T (p.Gly165=)

SNV
Germline

ChrX:19353158

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262077

NM_000284.4(PDHA1):c.499G>T (p.Val167Leu)

SNV
Germline

ChrX:19353162

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262078

NM_000284.4(PDHA1):c.511-30G>A

SNV
Germline

ChrX:19354461

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262080

NM_000284.4(PDHA1):c.511G>C (p.Val171Leu)

SNV
Germline

ChrX:19354491

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262081

NM_000284.4(PDHA1):c.523G>C (p.Ala175Pro)

SNV
Germline

ChrX:19354503

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262083

NM_000284.4(PDHA1):c.530T>C (p.Ile177Thr)

SNV
Germline

ChrX:19354510

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262084

NM_000284.4(PDHA1):c.562G>A (p.Glu188Lys)

SNV
Germline

ChrX:19354542

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262086

NM_000284.4(PDHA1):c.586G>A (p.Asp196Asn)

SNV
Germline

ChrX:19354566

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262087

NM_000284.4(PDHA1):c.593C>T (p.Ala198Val)

SNV
Germline

ChrX:19354573

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262088

NM_000284.4(PDHA1):c.595G>A (p.Ala199Thr)

SNV
Germline

ChrX:19354575

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262089

NM_000284.4(PDHA1):c.599A>C (p.Asn200Thr)

SNV
Germline

ChrX:19354579

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262090

NM_000284.4(PDHA1):c.604-10C>G

SNV
Germline

ChrX:19355339

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262091

NM_000284.4(PDHA1):c.616G>T (p.Glu206Ter)

SNV
Germline

ChrX:19355361

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262093

NM_000284.4(PDHA1):c.619G>C (p.Ala207Pro)

SNV
Germline

ChrX:19355364

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262094

NM_000284.4(PDHA1):c.626A>G (p.Asn209Ser)

SNV
Germline

ChrX:19355371

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262095

NM_000284.4(PDHA1):c.629T>C (p.Met210Thr)

SNV
Germline

ChrX:19355374

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262096

NM_000284.4(PDHA1):c.643A>C (p.Lys215Gln)

SNV
Germline

ChrX:19355388

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262097

NM_000284.4(PDHA1):c.649C>G (p.Pro217Ala)

SNV
Germline

ChrX:19355394

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262098

NM_000284.4(PDHA1):c.649C>A (p.Pro217Thr)

SNV
Germline

ChrX:19355394

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262099

NM_000284.4(PDHA1):c.650C>G (p.Pro217Arg)

SNV
Germline

ChrX:19355395

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262100

NM_000284.4(PDHA1):c.680A>G (p.Tyr227Cys)

SNV
Germline

ChrX:19355425

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262102

NM_000284.4(PDHA1):c.688G>A (p.Gly230Arg)

SNV
Germline

ChrX:19355433

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262103

NM_000284.4(PDHA1):c.691A>G (p.Thr231Ala)

SNV
Germline

ChrX:19355436

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262104

NM_000284.4(PDHA1):c.692C>A (p.Thr231Lys)

SNV
Germline

ChrX:19355437

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262105

NM_000284.4(PDHA1):c.703A>G (p.Arg235Gly)

SNV
Germline

ChrX:19355448

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262107

NM_000284.4(PDHA1):c.728A>C (p.Tyr243Ser)

SNV
Germline

ChrX:19355473

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262109

NM_000284.4(PDHA1):c.729C>A (p.Tyr243Ter)

SNV
Germline

ChrX:19355474

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262110

NM_000284.4(PDHA1):c.757A>G (p.Arg253Gly)

SNV
Germline

ChrX:19355502

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262112

NM_000284.4(PDHA1):c.760-2A>G

SNV
Germline

ChrX:19355684

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262113

NM_000284.4(PDHA1):c.778C>G (p.Leu260Val)

SNV
Germline

ChrX:19355704

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262115

NM_000284.4(PDHA1):c.784G>C (p.Val262Leu)

SNV
Germline

ChrX:19355710

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262116

NM_000284.4(PDHA1):c.832G>C (p.Gly278Arg)

SNV
Germline

ChrX:19357652

Likely pathogenic

Thyroid cancer, nonmedullary, 1
Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

2 SubmittersRCV005934590 RCV006262117

NM_000284.4(PDHA1):c.833G>A (p.Gly278Glu)

SNV
Germline

ChrX:19357653

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262118

NM_000284.4(PDHA1):c.844A>G (p.Met282Val)

SNV
Germline

ChrX:19357664

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262119

NM_000284.4(PDHA1):c.845T>G (p.Met282Arg)

SNV
Germline

ChrX:19357665

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262121

NM_000284.4(PDHA1):c.862C>A (p.Arg288Ser)

SNV
Germline

ChrX:19357682

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262123

NM_000284.4(PDHA1):c.863G>T (p.Arg288Leu)

SNV
Germline

ChrX:19357683

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262124

NM_000284.4(PDHA1):c.869A>C (p.His290Pro)

SNV
Germline

ChrX:19357689

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262125

NM_000284.4(PDHA1):c.875A>T (p.His292Leu)

SNV
Germline

ChrX:19357695

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262126

NM_000284.4(PDHA1):c.888C>G (p.Asp296Glu)

SNV
Germline

ChrX:19357708

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262127

NM_000284.4(PDHA1):c.886G>A (p.Asp296Asn)

SNV
Germline

ChrX:19357706

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262128

NM_000284.4(PDHA1):c.892G>A (p.Gly298Arg)

SNV
Germline

ChrX:19357712

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262129

NM_000284.4(PDHA1):c.893G>A (p.Gly298Glu)

SNV
Germline

ChrX:19357713

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262130

NM_000284.4(PDHA1):c.900-1G>A

SNV
Germline

ChrX:19358915

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262139

NM_000284.4(PDHA1):c.905G>T (p.Arg302Leu)

SNV
Germline

ChrX:19358921

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262143

NM_000284.4(PDHA1):c.940A>T (p.Ser314Cys)

SNV
Germline

ChrX:19358956

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262153

NM_000284.4(PDHA1):c.592G>A (p.Ala198Thr)

SNV
Germline

ChrX:19354572

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262154

NM_000284.4(PDHA1):c.1052A>C (p.Gln351Pro)

SNV
Germline

ChrX:19359532

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262178

NM_000284.4(PDHA1):c.1057G>A (p.Ala353Thr)

SNV
Germline

ChrX:19359537

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262180

NM_000284.4(PDHA1):c.1057G>C (p.Ala353Pro)

SNV
Germline

ChrX:19359537

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262181

NM_000284.4(PDHA1):c.262C>A (p.Arg88Ser)

SNV
Germline

ChrX:19350081

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262189

NM_000284.4(PDHA1):c.302G>T (p.Cys101Phe)

SNV
Germline

ChrX:19351291

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262198

NM_000284.4(PDHA1):c.1100A>G (p.His367Arg)

SNV
Germline

ChrX:19359580

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262200

NM_000284.4(PDHA1):c.1105T>C (p.Tyr369His)

SNV
Germline

ChrX:19359585

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262204

NM_000284.4(PDHA1):c.410A>G (p.Glu137Gly)

SNV
Germline

ChrX:19351399

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262218

NM_000284.4(PDHA1):c.1144C>T (p.Gln382Ter)

SNV
Germline

ChrX:19359624

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262221

NM_000284.4(PDHA1):c.1147T>C (p.Trp383Arg)

SNV
Germline

ChrX:19359627

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262223

NM_000284.4(PDHA1):c.1162T>C (p.Ser388Pro)

SNV
Germline

ChrX:19359642

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262226

NM_000284.4(PDHA1):c.1163C>A (p.Ser388Ter)

SNV
Germline

ChrX:19359643

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262228

NM_000284.4(PDHA1):c.883A>G (p.Ser295Gly)

SNV
Germline

ChrX:19357703

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262229

NM_000284.4(PDHA1):c.131A>G (p.His44Arg)

SNV
Germline

ChrX:19349950

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262230

NM_000284.4(PDHA1):c.148C>T (p.Pro50Ser)

SNV
Germline

ChrX:19349967

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262231

NM_000284.4(PDHA1):c.292-2A>G

SNV
Germline

ChrX:19351279

Pathogenic

Nonpapillary renal cell carcinoma
Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

2 SubmittersRCV005934591 RCV006262232

NM_000284.4(PDHA1):c.407C>T (p.Ala136Val)

SNV
Germline

ChrX:19351396

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262233

NM_000284.4(PDHA1):c.464T>C (p.Met155Thr)

SNV
Germline

ChrX:19353127

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262234

NM_000284.4(PDHA1):c.484G>A (p.Gly162Arg)

SNV
Germline

ChrX:19353147

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262235

NM_000284.4(PDHA1):c.615C>A (p.Phe205Leu)

SNV
Germline

ChrX:19355360

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262236

NM_000284.4(PDHA1):c.831+1G>A

SNV
Germline

ChrX:19355758

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262237

NM_000284.4(PDHA1):c.261T>G (p.Ile87Met)

SNV
Germline

ChrX:19350080

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262241

NM_000284.4(PDHA1):c.337C>G (p.His113Asp)

SNV
Germline

ChrX:19351326

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262243

NM_000284.4(PDHA1):c.421C>G (p.Arg141Gly)

SNV
Germline

ChrX:19353084

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262244

NM_000284.4(PDHA1):c.422G>T (p.Arg141Leu)

SNV
Germline

ChrX:19353085

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262245

NM_000284.4(PDHA1):c.430G>A (p.Gly144Ser)

SNV
Germline

ChrX:19353093

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262246

NM_000284.4(PDHA1):c.442G>A (p.Gly148Arg)

SNV
Germline

ChrX:19353105

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262247

NM_000284.4(PDHA1):c.542G>A (p.Cys181Tyr)

SNV
Germline

ChrX:19354522

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262249

NM_000284.4(PDHA1):c.555A>G (p.Gly185=)

SNV
Germline

ChrX:19354535

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262250

NM_000284.4(PDHA1):c.584G>C (p.Gly195Ala)

SNV
Germline

ChrX:19354564

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262251

NM_000284.4(PDHA1):c.647T>C (p.Leu216Ser)

SNV
Germline

ChrX:19355392

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262252

NM_000284.4(PDHA1):c.687G>A (p.Met229Ile)

SNV
Germline

ChrX:19355432

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262253

NM_000284.4(PDHA1):c.847G>A (p.Glu283Lys)

SNV
Germline

ChrX:19357667

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262255

NM_000284.4(PDHA1):c.853C>T (p.Gln285Ter)

SNV
Germline

ChrX:19357673

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262256

NM_000284.4(PDHA1):c.899+1G>C

SNV
Germline

ChrX:19357720

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262258

NM_000284.4(PDHA1):c.924G>T (p.Gln308His)

SNV
Germline

ChrX:19358940

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

1 SubmittersRCV006262260