ClinVar for MedGen (Select 449386) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25824061.	NM_000108.5(DLD):c.217A>C (p.Asn73His) GRCh37: Chr7:107542788 GRCh38: Chr7:107902343	DLD	N73H	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Mar 27, 2023)	criteria provided, single submitter
Select item 25010302.	NM_000108.5(DLD):c.268-1G>A GRCh37: Chr7:107543922 GRCh38: Chr7:107903477	DLD		Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Mar 10, 2023)	criteria provided, single submitter
Select item 24420233.	NM_000108.5(DLD):c.13A>G (p.Ser5Gly) GRCh37: Chr7:107531708 GRCh38: Chr7:107891263	DLD	S5G	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 24408014.	NM_000108.5(DLD):c.803A>G (p.Gln268Arg) GRCh37: Chr7:107556069 GRCh38: Chr7:107915624	DLD	Q169R, Q220R, Q245R, Q268R	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 24408005.	NM_000108.5(DLD):c.1343A>G (p.Asp448Gly) GRCh37: Chr7:107558475 GRCh38: Chr7:107918030	DLD	D349G, D400G, D425G, D448G	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 24397356.	NM_000108.5(DLD):c.439-1G>C GRCh37: Chr7:107545805 GRCh38: Chr7:107905360	DLD		Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Jun 17, 2022)	criteria provided, single submitter
Select item 24223647.	NC_000007.13:g.(?_107412489)_(107559714_?)del GRCh37: Chr7:107412489-107559714	DLD, SLC26A3		Pyruvate dehydrogenase E3 deficiency	Pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 24156788.	NM_000108.5(DLD):c.511A>C (p.Thr171Pro) GRCh37: Chr7:107545878 GRCh38: Chr7:107905433	DLD	T148P, T171P, T72P	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 22022399.	NM_000108.5(DLD):c.1236+5G>A GRCh37: Chr7:107557912 GRCh38: Chr7:107917467	DLD		Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219978510.	NM_000108.5(DLD):c.1148A>G (p.His383Arg) GRCh37: Chr7:107557819 GRCh38: Chr7:107917374	DLD	H284R, H360R, H335R, H383R	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 219128011.	NM_000108.5(DLD):c.1052A>G (p.Tyr351Cys) GRCh37: Chr7:107557723 GRCh38: Chr7:107917278	DLD	Y252C, Y303C, Y351C, Y328C	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 216582912.	NM_000108.5(DLD):c.884C>T (p.Ala295Val) GRCh37: Chr7:107557247 GRCh38: Chr7:107916802	DLD	A196V, A247V, A295V, A272V	Inborn genetic diseases, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Nov 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215886813.	NM_000108.5(DLD):c.675_676inv (p.Val226Ile) GRCh37: Chr7:107546804-107546805 GRCh38: Chr7:107906359-107906360	DLD	V203I, V226I, V127I, V178I	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 215882914.	NM_000108.5(DLD):c.1502C>T (p.Ala501Val) GRCh37: Chr7:107559676 GRCh38: Chr7:107919231	DLD	A478V, A501V, A453V, A402V	Inborn genetic diseases, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215869415.	NM_000108.5(DLD):c.161A>T (p.Tyr54Phe) GRCh37: Chr7:107542225 GRCh38: Chr7:107901780	DLD	Y54F	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 215470816.	NM_000108.5(DLD):c.118+12A>G GRCh37: Chr7:107533735 GRCh38: Chr7:107893290	DLD		Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 215296117.	NM_000108.5(DLD):c.787C>T (p.Arg263Cys) GRCh37: Chr7:107556053 GRCh38: Chr7:107915608	DLD	R240C, R164C, R215C, R263C	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 215290518.	NM_000108.5(DLD):c.991C>G (p.Leu331Val) GRCh37: Chr7:107557354 GRCh38: Chr7:107916909	DLD	L308V, L283V, L232V, L331V	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 215148319.	NM_000108.5(DLD):c.831G>T (p.Lys277Asn) GRCh37: Chr7:107556097 GRCh38: Chr7:107915652	DLD	K254N, K229N, K178N, K277N	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 214936820.	NM_000108.5(DLD):c.29C>T (p.Ser10Phe) GRCh37: Chr7:107531724 GRCh38: Chr7:107891279	DLD	S10F	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 214754921.	NM_000108.5(DLD):c.744A>G (p.Val248=) GRCh37: Chr7:107556010 GRCh38: Chr7:107915565	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 214426222.	NM_000108.5(DLD):c.58A>G (p.Ile20Val) GRCh37: Chr7:107533663 GRCh38: Chr7:107893218	DLD	I20V	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 214164523.	NM_000108.5(DLD):c.1373C>T (p.Pro458Leu) GRCh37: Chr7:107558505 GRCh38: Chr7:107918060	DLD, LOC129999127	P435L, P458L, P359L, P410L	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (May 26, 2021)	criteria provided, single submitter
Select item 214017824.	NM_000108.5(DLD):c.6G>C (p.Gln2His) GRCh37: Chr7:107531701 GRCh38: Chr7:107891256	DLD	Q2H	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 213401225.	NM_000108.5(DLD):c.552T>C (p.Gly184=) GRCh37: Chr7:107545919 GRCh38: Chr7:107905474	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 213174126.	NM_000108.5(DLD):c.40-3T>A GRCh37: Chr7:107533642 GRCh38: Chr7:107893197	DLD		Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 212880027.	NM_000108.5(DLD):c.39+10G>A GRCh37: Chr7:107531744 GRCh38: Chr7:107891299	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212835728.	NM_000108.5(DLD):c.1515A>G (p.Lys505=) GRCh37: Chr7:107559689 GRCh38: Chr7:107919244	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212511729.	NM_000108.5(DLD):c.268-6C>T GRCh37: Chr7:107543917 GRCh38: Chr7:107903472	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 212507330.	NM_000108.5(DLD):c.765G>A (p.Met255Ile) GRCh37: Chr7:107556031 GRCh38: Chr7:107915586	DLD	M156I, M207I, M232I, M255I	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 211598131.	NM_000108.5(DLD):c.1344C>T (p.Asp448=) GRCh37: Chr7:107558476 GRCh38: Chr7:107918031	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211316232.	NM_000108.5(DLD):c.1139del (p.Gly380fs) GRCh37: Chr7:107557809 GRCh38: Chr7:107917364	DLD	G281fs, G332fs, G380fs, G357fs	Pyruvate dehydrogenase E3 deficiency	Pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 210709633.	NM_000108.5(DLD):c.1416A>G (p.Glu472=) GRCh37: Chr7:107559496 GRCh38: Chr7:107919051	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 210635134.	NM_000108.5(DLD):c.1464+1G>A GRCh37: Chr7:107559545 GRCh38: Chr7:107919100	DLD		Pyruvate dehydrogenase E3 deficiency	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 210431035.	NM_000108.5(DLD):c.489T>G (p.Thr163=) GRCh37: Chr7:107545856 GRCh38: Chr7:107905411	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 209662236.	NM_000108.5(DLD):c.1173A>G (p.Ser391=) GRCh37: Chr7:107557844 GRCh38: Chr7:107917399	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 209321837.	NM_000108.5(DLD):c.1437T>C (p.Asp479=) GRCh37: Chr7:107559517 GRCh38: Chr7:107919072	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 208961038.	NM_000108.5(DLD):c.337+1G>T GRCh37: Chr7:107543993 GRCh38: Chr7:107903548	DLD		Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 208453439.	NM_000108.5(DLD):c.630A>G (p.Lys210=) GRCh37: Chr7:107546759 GRCh38: Chr7:107906314	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 208394340.	NM_000108.5(DLD):c.582+16A>G GRCh37: Chr7:107545965 GRCh38: Chr7:107905520	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 207246441.	NM_000108.5(DLD):c.69C>T (p.Gly23=) GRCh37: Chr7:107533674 GRCh38: Chr7:107893229	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 206935442.	NM_000108.5(DLD):c.1158C>G (p.Tyr386Ter) GRCh37: Chr7:107557829 GRCh38: Chr7:107917384	DLD	Y338, Y363, Y287, Y386	Pyruvate dehydrogenase E3 deficiency	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 206035543.	NM_000108.5(DLD):c.581C>T (p.Thr194Met) GRCh37: Chr7:107545948 GRCh38: Chr7:107905503	DLD	T95M, T171M, T194M	DLD-related condition, Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jul 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206005944.	NM_000108.5(DLD):c.1218A>C (p.Glu406Asp) GRCh37: Chr7:107557889 GRCh38: Chr7:107917444	DLD	E307D, E358D, E383D, E406D	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 205957445.	NM_000108.5(DLD):c.439-7del GRCh37: Chr7:107545796 GRCh38: Chr7:107905351	DLD		Pyruvate dehydrogenase E3 deficiency	Benign (Dec 27, 2021)	criteria provided, single submitter
Select item 205735946.	NM_000108.5(DLD):c.1116_1117del (p.Ile372fs) GRCh37: Chr7:107557786-107557787 GRCh38: Chr7:107917341-107917342	DLD	I273fs, I372fs, I349fs, I324fs	Pyruvate dehydrogenase E3 deficiency	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 205504747.	NM_000108.5(DLD):c.582+18T>C GRCh37: Chr7:107545967 GRCh38: Chr7:107905522	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 205212748.	NM_000108.5(DLD):c.1337C>T (p.Ser446Leu) GRCh37: Chr7:107558469 GRCh38: Chr7:107918024	DLD	S347L, S398L, S423L, S446L	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 205208149.	NM_000108.5(DLD):c.53A>G (p.Asn18Ser) GRCh37: Chr7:107533658 GRCh38: Chr7:107893213	DLD	N18S	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 204580350.	NM_000108.5(DLD):c.1374+9T>G GRCh37: Chr7:107558515 GRCh38: Chr7:107918070	DLD, LOC129999127		Pyruvate dehydrogenase E3 deficiency	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 204471351.	NM_000108.5(DLD):c.1179T>C (p.Ile393=) GRCh37: Chr7:107557850 GRCh38: Chr7:107917405	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204462852.	NM_000108.5(DLD):c.911T>C (p.Ile304Thr) GRCh37: Chr7:107557274 GRCh38: Chr7:107916829	DLD	I205T, I256T, I304T, I281T	Pyruvate dehydrogenase E3 deficiency	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 203631753.	NM_000108.5(DLD):c.583-8T>A GRCh37: Chr7:107546704 GRCh38: Chr7:107906259	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203344554.	NM_000108.5(DLD):c.159A>G (p.Gly53=) GRCh37: Chr7:107542223 GRCh38: Chr7:107901778	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 203039755.	NM_000108.5(DLD):c.1232_1233del (p.Glu411fs) GRCh37: Chr7:107557903-107557904 GRCh38: Chr7:107917458-107917459	DLD	E312fs, E363fs, E388fs, E411fs	Pyruvate dehydrogenase E3 deficiency	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 202875656.	NM_000108.5(DLD):c.875+9A>G GRCh37: Chr7:107556150 GRCh38: Chr7:107915705	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 202812457.	NM_000108.5(DLD):c.987dup (p.Glu330Ter) GRCh37: Chr7:107557348-107557349 GRCh38: Chr7:107916903-107916904	DLD	E282, E307, E330, E231	Pyruvate dehydrogenase E3 deficiency	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 202780358.	NM_000108.5(DLD):c.40-2A>G GRCh37: Chr7:107533643 GRCh38: Chr7:107893198	DLD		Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Dec 13, 2021)	criteria provided, single submitter
Select item 202569759.	NM_000108.5(DLD):c.1422A>G (p.Gly474=) GRCh37: Chr7:107559502 GRCh38: Chr7:107919057	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 202561360.	NM_000108.5(DLD):c.582+7A>G GRCh37: Chr7:107545956 GRCh38: Chr7:107905511	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 202333761.	NM_000108.5(DLD):c.1302C>T (p.Asp434=) GRCh37: Chr7:107558434 GRCh38: Chr7:107917989	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 202091962.	NM_000108.5(DLD):c.189A>G (p.Leu63=) GRCh37: Chr7:107542253 GRCh38: Chr7:107901808	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 201908763.	NM_000108.5(DLD):c.338-2A>G GRCh37: Chr7:107545401 GRCh38: Chr7:107904956	DLD		Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 201721164.	NM_000108.5(DLD):c.647del (p.Met216fs) GRCh37: Chr7:107546776 GRCh38: Chr7:107906331	DLD	M193fs, M117fs, M168fs, M216fs	Pyruvate dehydrogenase E3 deficiency	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 201317765.	NM_000108.5(DLD):c.439-2A>G GRCh37: Chr7:107545804 GRCh38: Chr7:107905359	DLD		Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Jul 2, 2022)	criteria provided, single submitter
Select item 201208066.	NM_000108.5(DLD):c.306T>C (p.His102=) GRCh37: Chr7:107543961 GRCh38: Chr7:107903516	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 200184367.	NM_000108.5(DLD):c.1236+7C>A GRCh37: Chr7:107557914 GRCh38: Chr7:107917469	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 199824968.	NM_000108.5(DLD):c.1233A>G (p.Glu411=) GRCh37: Chr7:107557904 GRCh38: Chr7:107917459	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 199674669.	NM_000108.5(DLD):c.1212A>C (p.Lys404Asn) GRCh37: Chr7:107557883 GRCh38: Chr7:107917438	DLD	K404N, K356N, K381N, K305N	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 198729570.	NM_000108.5(DLD):c.119-9T>C GRCh37: Chr7:107542174 GRCh38: Chr7:107901729	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 197733271.	NM_000108.5(DLD):c.876-14T>C GRCh37: Chr7:107557225 GRCh38: Chr7:107916780	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 196695672.	NM_000108.5(DLD):c.966G>C (p.Leu322Phe) GRCh37: Chr7:107557329 GRCh38: Chr7:107916884	DLD	L223F, L274F, L299F, L322F	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 196628573.	NM_000108.5(DLD):c.1237-7G>C GRCh37: Chr7:107558362 GRCh38: Chr7:107917917	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 196610674.	NM_000108.5(DLD):c.108A>G (p.Ala36=) GRCh37: Chr7:107533713 GRCh38: Chr7:107893268	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 196400575.	NM_000108.5(DLD):c.140T>G (p.Ile47Arg) GRCh37: Chr7:107542204 GRCh38: Chr7:107901759	DLD	I47R	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 196398376.	NM_000108.5(DLD):c.285_286del (p.His96fs) GRCh37: Chr7:107543937-107543938 GRCh38: Chr7:107903492-107903493	DLD	H73fs, H96fs	Pyruvate dehydrogenase E3 deficiency	Pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 196033677.	NM_000108.5(DLD):c.199-4G>A GRCh37: Chr7:107542766 GRCh38: Chr7:107902321	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 195152478.	NM_000108.5(DLD):c.27C>T (p.Cys9=) GRCh37: Chr7:107531722 GRCh38: Chr7:107891277	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 195135979.	NM_000108.5(DLD):c.297T>C (p.His99=) GRCh37: Chr7:107543952 GRCh38: Chr7:107903507	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 194966380.	NM_000108.5(DLD):c.1237-15_1237-14del GRCh37: Chr7:107558349-107558350 GRCh38: Chr7:107917904-107917905	DLD		Pyruvate dehydrogenase E3 deficiency	Benign (Aug 10, 2022)	criteria provided, single submitter
Select item 194298281.	NM_000108.5(DLD):c.901G>C (p.Ala301Pro) GRCh37: Chr7:107557264 GRCh38: Chr7:107916819	DLD	A253P, A301P, A202P, A278P	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 193532482.	NM_000108.5(DLD):c.39+14A>G GRCh37: Chr7:107531748 GRCh38: Chr7:107891303	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Dec 6, 2021)	criteria provided, single submitter
Select item 193226583.	NM_000108.5(DLD):c.1464G>A (p.Pro488=) GRCh37: Chr7:107559544 GRCh38: Chr7:107919099	DLD		Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 192559084.	NM_000108.5(DLD):c.627A>G (p.Leu209=) GRCh37: Chr7:107546756 GRCh38: Chr7:107906311	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 190617085.	NM_000108.5(DLD):c.685-17_685-14del GRCh37: Chr7:107555931-107555934 GRCh38: Chr7:107915486-107915489	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 172698986.	NM_000108.5(DLD):c.1187_1188del (p.His396fs) GRCh37: Chr7:107557852-107557853 GRCh38: Chr7:107917407-107917408	DLD	H297fs, H348fs, H373fs, H396fs	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 172652487.	NM_000108.5(DLD):c.383delinsTA (p.Ser128fs) GRCh37: Chr7:107545448 GRCh38: Chr7:107905003	DLD	S105fs, S128fs, S29fs	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172644088.	NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs) GRCh37: Chr7:107545858-107545859 GRCh38: Chr7:107905413-107905414	DLD	T142fs, T165fs, T66fs	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172614289.	NM_000108.5(DLD):c.19dup (p.Val7fs) GRCh37: Chr7:107531713-107531714 GRCh38: Chr7:107891268-107891269	DLD	V7fs	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172585290.	NM_000108.5(DLD):c.1318A>T (p.Lys440Ter) GRCh37: Chr7:107558450 GRCh38: Chr7:107918005	DLD	K341, K392, K417, K440	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 172543191.	NM_000108.5(DLD):c.1036A>T (p.Lys346Ter) GRCh37: Chr7:107557399 GRCh38: Chr7:107916954	DLD	K247, K298, K323, K346	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 172495292.	NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs) GRCh37: Chr7:107557779-107557780 GRCh38: Chr7:107917334-107917335	DLD	I272fs, I323fs, I348fs, I371fs	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Nov 25, 2021)	criteria provided, single submitter
Select item 172494693.	NM_000108.5(DLD):c.801del (p.Lys267fs) GRCh37: Chr7:107556063 GRCh38: Chr7:107915618	DLD	K168fs, K219fs, K244fs, K267fs	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172473794.	NM_000108.5(DLD):c.829A>T (p.Lys277Ter) GRCh37: Chr7:107556095 GRCh38: Chr7:107915650	DLD	K178, K229, K254, K277	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172449395.	NM_000108.5(DLD):c.898A>T (p.Lys300Ter) GRCh37: Chr7:107557261 GRCh38: Chr7:107916816	DLD	K201, K252, K277, K300	Pyruvate dehydrogenase E3 deficiency	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 171618796.	NM_000108.5(DLD):c.1065T>G (p.Asp355Glu) GRCh37: Chr7:107557736 GRCh38: Chr7:107917291	DLD	D256E, D307E, D332E, D355E	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 171382797.	NM_000108.5(DLD):c.1357G>A (p.Ala453Thr) GRCh37: Chr7:107558489 GRCh38: Chr7:107918044	DLD	A354T, A405T, A430T, A453T	Pyruvate dehydrogenase E3 deficiency	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 167313198.	NM_000108.5(DLD):c.462A>G (p.Gly154=) GRCh37: Chr7:107545829 GRCh38: Chr7:107905384	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 167289799.	NM_000108.5(DLD):c.504T>C (p.Asp168=) GRCh37: Chr7:107545871 GRCh38: Chr7:107905426	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 1671892100.	NM_000108.5(DLD):c.450C>A (p.Val150=) GRCh37: Chr7:107545817 GRCh38: Chr7:107905372	DLD		Pyruvate dehydrogenase E3 deficiency	Likely benign (Jul 25, 2022)	criteria provided, single submitter

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