ClinVar for MedGen (Select 19610) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12167541.	NM_000284.4(PDHA1):c.292-59C>T GRCh37: ChrX:19369340 GRCh38: ChrX:19351222	PDHA1		not provided	Likely benign (Oct 28, 2020)	criteria provided, single submitter
Select item 12024732.	NM_000284.4(PDHA1):c.511-54G>A GRCh37: ChrX:19372555 GRCh38: ChrX:19354437	PDHA1		not provided	Likely benign (Apr 12, 2019)	criteria provided, single submitter
Select item 11685593.	NM_000284.4(PDHA1):c.759+9A>G GRCh37: ChrX:19373631 GRCh38: ChrX:19355513	PDHA1		Pyruvate dehydrogenase E1-alpha deficiency	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 11650574.	NM_000284.4(PDHA1):c.759+26GGCCAA[2] GRCh37: ChrX:19373648-19373653 GRCh38: ChrX:19355530-19355535	PDHA1		not provided, Pyruvate dehydrogenase E1-alpha deficiency	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11220215.	NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu) GRCh37: ChrX:19368063 GRCh38: ChrX:19349945	PDHA1	D42E, D80E	Pyruvate dehydrogenase E1-alpha deficiency, not provided	Likely benign (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9919016.	NM_000925.4(PDHB):c.477A>C (p.Ser159=) GRCh37: Chr3:58416496 GRCh38: Chr3:58430769	PDHB		Pyruvate dehydrogenase E1-beta deficiency	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 9919007.	NM_000925.4(PDHB):c.826A>T (p.Met276Leu) GRCh37: Chr3:58414308 GRCh38: Chr3:58428581	PDHB	M258L, M276L	Pyruvate dehydrogenase complex deficiency	Uncertain significance (Aug 24, 2020)	no assertion criteria provided
Select item 9918998.	NM_000925.4(PDHB):c.836T>C (p.Ile279Thr) GRCh37: Chr3:58414298 GRCh38: Chr3:58428571	PDHB	I261T, I279T	Pyruvate dehydrogenase E1-beta deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9918989.	NM_000925.4(PDHB):c.841G>T (p.Ala281Ser) GRCh37: Chr3:58414293 GRCh38: Chr3:58428566	PDHB	A263S, A281S	Pyruvate dehydrogenase E1-beta deficiency	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 99189710.	NM_000925.4(PDHB):c.847G>A (p.Val283Ile) GRCh37: Chr3:58414287 GRCh38: Chr3:58428560	PDHB	V265I, V283I	Pyruvate dehydrogenase complex deficiency	Uncertain significance (Sep 30, 2020)	no assertion criteria provided
Select item 99189611.	NM_000925.4(PDHB):c.1002T>C (p.Tyr334=) GRCh37: Chr3:58413839 GRCh38: Chr3:58428112	PDHB		Pyruvate dehydrogenase E1-beta deficiency	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 99189512.	NM_000925.4(PDHB):c.*7C>G GRCh37: Chr3:58413754 GRCh38: Chr3:58428027	PDHB		Pyruvate dehydrogenase complex deficiency	Uncertain significance (Sep 22, 2020)	no assertion criteria provided
Select item 99138613.	NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser) GRCh37: ChrX:19377740 GRCh38: ChrX:19359622	PDHA1	N350S, N381S, N388S, N419S	Pyruvate dehydrogenase complex deficiency	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99138514.	NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn) GRCh37: ChrX:19373602 GRCh38: ChrX:19355484	PDHA1	D216N, D247N, D254N, D285N	not provided	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 99138415.	NM_000284.4(PDHA1):c.661A>G (p.Ile221Val) GRCh37: ChrX:19373524 GRCh38: ChrX:19355406	PDHA1	I190V, I221V, I228V, I259V	not provided	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 98980116.	NM_000925.4(PDHB):c.-4C>T GRCh37: Chr3:58419540 GRCh38: Chr3:58433813	PDHB		Pyruvate dehydrogenase E1-beta deficiency	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 98980017.	NM_000925.4(PDHB):c.25C>A (p.Arg9=) GRCh37: Chr3:58419512 GRCh38: Chr3:58433785	LOC129936949, PDHB		Pyruvate dehydrogenase E1-beta deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 98979918.	NM_000925.4(PDHB):c.185A>G (p.Gln62Arg) GRCh37: Chr3:58417623 GRCh38: Chr3:58431896	PDHB	Q44R, Q62R	Pyruvate dehydrogenase complex deficiency	Uncertain significance (Sep 20, 2020)	no assertion criteria provided
Select item 97049919.	NM_000925.4(PDHB):c.1029A>G (p.Ile343Met) GRCh37: Chr3:58413812 GRCh38: Chr3:58428085	PDHB	I343M, I325M	Pyruvate dehydrogenase E1-beta deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 91779620.	NM_000284.4(PDHA1):c.900-2dup GRCh37: ChrX:19377031-19377032 GRCh38: ChrX:19358913-19358914	PDHA1		not provided, not specified	Uncertain significance (May 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91297521.	NM_000284.4(PDHA1):c.*110C>T GRCh37: ChrX:19377881 GRCh38: ChrX:19359763	PDHA1		not provided, Pyruvate dehydrogenase E1-alpha deficiency	Benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 91175122.	NM_000108.5(DLD):c.*1640A>G GRCh37: Chr7:107561344 GRCh38: Chr7:107920899	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 91161823.	NM_000108.5(DLD):c.*739G>A GRCh37: Chr7:107560443 GRCh38: Chr7:107919998	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91149824.	NM_000108.5(DLD):c.1313T>C (p.Met438Thr) GRCh37: Chr7:107558445 GRCh38: Chr7:107918000	DLD	M339T, M415T, M438T, M390T	Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91114825.	NM_000108.5(DLD):c.30C>A (p.Ser10=) GRCh37: Chr7:107531725 GRCh38: Chr7:107891280	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 91050926.	NM_000108.5(DLD):c.*1505C>T GRCh37: Chr7:107561209 GRCh38: Chr7:107920764	DLD		Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91045527.	NM_000108.5(DLD):c.*1074C>G GRCh37: Chr7:107560778 GRCh38: Chr7:107920333	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91045428.	NM_000108.5(DLD):c.*1027T>G GRCh37: Chr7:107560731 GRCh38: Chr7:107920286	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90964129.	NM_000108.5(DLD):c.*1876G>A GRCh37: Chr7:107561580 GRCh38: Chr7:107921135	DLD		Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90958630.	NM_000108.5(DLD):c.*1422C>T GRCh37: Chr7:107561126 GRCh38: Chr7:107920681	DLD		Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90958531.	NM_000108.5(DLD):c.*1401G>T GRCh37: Chr7:107561105 GRCh38: Chr7:107920660	DLD		Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90945532.	NM_000108.5(DLD):c.*474T>C GRCh37: Chr7:107560178 GRCh38: Chr7:107919733	DLD		Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome, not provided	Benign/Likely benign (Jun 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90945433.	NM_000108.5(DLD):c.*470G>T GRCh37: Chr7:107560174 GRCh38: Chr7:107919729	DLD		Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome, not provided	Benign/Likely benign (May 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90923734.	NM_000108.5(DLD):c.226C>T (p.Leu76Phe) GRCh37: Chr7:107542797 GRCh38: Chr7:107902352	DLD	L76F	Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90917335.	NM_000108.5(DLD):c.-10C>T GRCh37: Chr7:107531686 GRCh38: Chr7:107891241	DLD		Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90872936.	NM_000108.5(DLD):c.*1300A>G GRCh37: Chr7:107561004 GRCh38: Chr7:107920559	DLD		Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90872837.	NM_000108.5(DLD):c.*1231A>G GRCh37: Chr7:107560935 GRCh38: Chr7:107920490	DLD		Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90872738.	NM_000108.5(DLD):c.*1145A>T GRCh37: Chr7:107560849 GRCh38: Chr7:107920404	DLD		Leigh syndrome, Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90866939.	NM_000108.5(DLD):c.*898C>T GRCh37: Chr7:107560602 GRCh38: Chr7:107920157	DLD		Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90866840.	NM_000108.5(DLD):c.*887T>C GRCh37: Chr7:107560591 GRCh38: Chr7:107920146	DLD		Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90866741.	NM_000108.5(DLD):c.*845G>A GRCh37: Chr7:107560549 GRCh38: Chr7:107920104	DLD		Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90860042.	NM_000108.5(DLD):c.*394A>G GRCh37: Chr7:107560098 GRCh38: Chr7:107919653	DLD		Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90859943.	NM_000108.5(DLD):c.*374G>T GRCh37: Chr7:107560078 GRCh38: Chr7:107919633	DLD		Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90845944.	NM_000108.5(DLD):c.520A>G (p.Ile174Val) GRCh37: Chr7:107545887 GRCh38: Chr7:107905442	DLD	I151V, I174V, I75V	Leigh syndrome, Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85751645.	NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg) GRCh37: ChrX:19377629 GRCh38: ChrX:19359511	PDHA1	K313R, K382R, K344R, K351R	Pyruvate dehydrogenase E1-alpha deficiency	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 79749946.	NM_000284.4(PDHA1):c.870C>T (p.His290=) GRCh37: ChrX:19375808 GRCh38: ChrX:19357690	PDHA1		Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76263947.	NM_000284.4(PDHA1):c.894A>G (p.Gly298=) GRCh37: ChrX:19375832 GRCh38: ChrX:19357714	PDHA1		Pyruvate dehydrogenase E1-alpha deficiency	Conflicting interpretations of pathogenicity (Jul 9, 2018)	criteria provided, conflicting interpretations
Select item 75923248.	NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) GRCh37: ChrX:19377660 GRCh38: ChrX:19359542	PDHA1		Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75177149.	NM_000108.5(DLD):c.375G>A (p.Glu125=) GRCh37: Chr7:107545440 GRCh38: Chr7:107904995	DLD		Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 73195650.	NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) GRCh37: ChrX:19377712 GRCh38: ChrX:19359594	PDHA1	D372N, D341N, D379N, D410N	not provided, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72996751.	NM_000925.4(PDHB):c.97-5G>A GRCh37: Chr3:58417716 GRCh38: Chr3:58431989	PDHB		Pyruvate dehydrogenase E1-beta deficiency	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 72389152.	NM_000284.4(PDHA1):c.759+10C>G GRCh37: ChrX:19373632 GRCh38: ChrX:19355514	PDHA1		Pyruvate dehydrogenase E1-alpha deficiency	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 72185153.	NM_000925.4(PDHB):c.417T>C (p.Pro139=) GRCh37: Chr3:58416556 GRCh38: Chr3:58430829	PDHB		Pyruvate dehydrogenase E1-beta deficiency	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 66599754.	NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) GRCh37: ChrX:19369426 GRCh38: ChrX:19351308	PDHA1	G114S, G107S, G145S	Pyruvate dehydrogenase E1-alpha deficiency	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 65570355.	NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) GRCh37: ChrX:19375777 GRCh38: ChrX:19357659	PDHA1	I249S, I318S, I280S, I287S	Pyruvate dehydrogenase complex deficiency	Uncertain significance (Apr 2, 2021)	reviewed by expert panel FDA Recognized Database
Select item 62755856.	NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp) GRCh37: ChrX:19368162 GRCh38: ChrX:19350044	PDHA1	E75D, E113D	Pyruvate dehydrogenase complex deficiency	Pathogenic (Nov 28, 2018)	criteria provided, single submitter
Select item 58842557.	NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) GRCh37: ChrX:19377106 GRCh38: ChrX:19358988	PDHA1	M324I, M293I, M331I, M362I	Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57858258.	NM_000108.5(DLD):c.55C>G (p.Arg19Gly) GRCh37: Chr7:107533660 GRCh38: Chr7:107893215	DLD	R19G	not provided, Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52391559.	NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer) GRCh37: ChrX:19377770-19377774 GRCh38: ChrX:19359652-19359656	PDHA1		not specified	Likely benign (Oct 16, 2017)	criteria provided, single submitter
Select item 51096760.	NM_000108.5(DLD):c.507C>T (p.Gly169=) GRCh37: Chr7:107545874 GRCh38: Chr7:107905429	DLD		Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Pyruvate dehydrogenase complex deficiency, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49579361.	NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) GRCh37: ChrX:19377647-19377648 GRCh38: ChrX:19359529-19359530	PDHA1		Pyruvate dehydrogenase complex deficiency	Likely pathogenic (Sep 22, 2016)	criteria provided, single submitter
Select item 48856962.	NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) GRCh37: ChrX:19371272 GRCh38: ChrX:19353154	PDHA1	N164S, N202S, N171S	Pyruvate dehydrogenase complex deficiency, not provided, Pyruvate dehydrogenase E1-alpha deficiency	Pathogenic/Likely pathogenic (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42157863.	NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) GRCh37: ChrX:19377770-19377775 GRCh38: ChrX:19359652-19359657	PDHA1		not provided, not specified, Pyruvate dehydrogenase E1-alpha deficiency	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 38248364.	NM_000108.5(DLD):c.321A>G (p.Ala107=) GRCh37: Chr7:107543976 GRCh38: Chr7:107903531	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, not provided, Leigh syndrome	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 38187565.	NM_000284.4(PDHA1):c.693G>A (p.Thr231=) GRCh37: ChrX:19373556 GRCh38: ChrX:19355438	PDHA1		Inborn genetic diseases, not specified, Pyruvate dehydrogenase E1-alpha deficiency, not provided	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37834366.	NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) GRCh37: ChrX:19377133 GRCh38: ChrX:19359015	PDHA1	E333D, E371D, E340D, E302D	Pyruvate dehydrogenase complex deficiency	Benign (May 6, 2021)	reviewed by expert panel FDA Recognized Database
Select item 37834267.	NM_000284.4(PDHA1):c.798A>G (p.Thr266=) GRCh37: ChrX:19373842 GRCh38: ChrX:19355724	PDHA1		not provided, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36957568.	NM_002291.3(LAMB1):c.5225-7C>T GRCh37: Chr7:107564539 GRCh38: Chr7:107924094	DLD, LAMB1		Cobblestone lissencephaly without muscular or ocular involvement, Maple syrup urine disease, Leigh syndrome, not specified, Pyruvate dehydrogenase complex deficiency, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36942269.	NM_000925.3(PDHB):c.407_408delAA GRCh37: Chr3:58413353-58413354 GRCh38: Chr3:58427626-58427627	PDHB		Pyruvate dehydrogenase complex deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35859470.	NM_000108.5(DLD):c.*1877A>G GRCh37: Chr7:107561581 GRCh38: Chr7:107921136	DLD		Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35859371.	NM_000108.5(DLD):c.*1857A>C GRCh37: Chr7:107561561 GRCh38: Chr7:107921116	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35859272.	NM_000108.5(DLD):c.1791_1794del GRCh37: Chr7:107561495-107561498 GRCh38: Chr7:107921050-107921053	DLD		Pyruvate dehydrogenase complex deficiency, Maple syrup urine disease, Leigh syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35859173.	NM_000108.5(DLD):c.*1736T>C GRCh37: Chr7:107561440 GRCh38: Chr7:107920995	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 35859074.	NM_000108.5(DLD):c.*1724C>G GRCh37: Chr7:107561428 GRCh38: Chr7:107920983	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35858975.	NM_000108.5(DLD):c.*1688G>A GRCh37: Chr7:107561392 GRCh38: Chr7:107920947	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, not provided, Leigh syndrome	Benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35858876.	NM_000108.5(DLD):c.*1451T>C GRCh37: Chr7:107561155 GRCh38: Chr7:107920710	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, not provided, Leigh syndrome	Benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35858777.	NM_000108.5(DLD):c.*1307C>T GRCh37: Chr7:107561011 GRCh38: Chr7:107920566	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35858678.	NM_000108.5(DLD):c.*1092C>T GRCh37: Chr7:107560796 GRCh38: Chr7:107920351	DLD		Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35858579.	NM_000108.5(DLD):c.*1088A>G GRCh37: Chr7:107560792 GRCh38: Chr7:107920347	DLD		Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35858480.	NM_000108.5(DLD):c.*978T>C GRCh37: Chr7:107560682 GRCh38: Chr7:107920237	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35858381.	NM_000108.5(DLD):c.*947G>T GRCh37: Chr7:107560651 GRCh38: Chr7:107920206	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35858282.	NM_000108.5(DLD):c.*855C>T GRCh37: Chr7:107560559 GRCh38: Chr7:107920114	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35858183.	NM_000108.5(DLD):c.*648G>A GRCh37: Chr7:107560352 GRCh38: Chr7:107919907	DLD		Leigh syndrome, not provided, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Benign/Likely benign (May 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35858084.	NM_000108.5(DLD):c.*498T>G GRCh37: Chr7:107560202 GRCh38: Chr7:107919757	DLD		Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35857985.	NM_000108.5(DLD):c.*487C>T GRCh37: Chr7:107560191 GRCh38: Chr7:107919746	DLD		Leigh syndrome, not provided, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35857886.	NM_000108.5(DLD):c.*470G>A GRCh37: Chr7:107560174 GRCh38: Chr7:107919729	DLD		Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 35857787.	NM_000108.5(DLD):c.*355A>G GRCh37: Chr7:107560059 GRCh38: Chr7:107919614	DLD		Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35857688.	NM_000108.5(DLD):c.*225C>T GRCh37: Chr7:107559929 GRCh38: Chr7:107919484	DLD		Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35857589.	NM_000108.5(DLD):c.*207G>A GRCh37: Chr7:107559911 GRCh38: Chr7:107919466	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35857490.	NM_000108.5(DLD):c.*167T>C GRCh37: Chr7:107559871 GRCh38: Chr7:107919426	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35857391.	NM_000108.5(DLD):c.*28G>T GRCh37: Chr7:107559732 GRCh38: Chr7:107919287	DLD		Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35857292.	NM_000108.5(DLD):c.1503G>A (p.Ala501=) GRCh37: Chr7:107559677 GRCh38: Chr7:107919232	DLD		Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 35857193.	NM_000108.5(DLD):c.1465-7C>G GRCh37: Chr7:107559632 GRCh38: Chr7:107919187	DLD		Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 35857094.	NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) GRCh37: Chr7:107557899 GRCh38: Chr7:107917454	DLD	K410Q, K362Q, K387Q, K311Q	Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35856995.	NM_000108.5(DLD):c.860G>A (p.Gly287Glu) GRCh37: Chr7:107556126 GRCh38: Chr7:107915681	DLD	G287E, G239E, G188E, G264E	Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome, Inborn genetic diseases	Uncertain significance (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35856896.	NM_000108.5(DLD):c.677T>C (p.Val226Ala) GRCh37: Chr7:107546806 GRCh38: Chr7:107906361	DLD	V226A, V178A, V203A, V127A	Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency, Leigh syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35856797.	NM_000108.5(DLD):c.267+15del GRCh37: Chr7:107542850 GRCh38: Chr7:107902405	DLD		Maple syrup urine disease, Leigh syndrome, Pyruvate dehydrogenase complex deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35856698.	NM_000108.5(DLD):c.117G>A (p.Pro39=) GRCh37: Chr7:107533722 GRCh38: Chr7:107893277	DLD		Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35856599.	NM_000108.5(DLD):c.116C>T (p.Pro39Leu) GRCh37: Chr7:107533721 GRCh38: Chr7:107893276	DLD	P39L	Leigh syndrome, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 358564100.	NM_000108.5(DLD):c.74A>C (p.Gln25Pro) GRCh37: Chr7:107533679 GRCh38: Chr7:107893234	DLD	Q25P	Inborn genetic diseases, Pyruvate dehydrogenase complex deficiency, Leigh syndrome, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts

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