ClinVar for MedGen (Select 19610) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1216754	NM_000284.4(PDHA1):c.292-59C>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202473	NM_000284.4(PDHA1):c.511-54G>A	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168559	NM_000284.4(PDHA1):c.759+9A>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 1165057	NM_000284.4(PDHA1):c.759+26GGCCAA[2]	PDHA1	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1122021	NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)	PDHA1 (D42E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 991901	NM_000925.4(PDHB):c.477A>C (p.Ser159=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 991900	NM_000925.4(PDHB):c.826A>T (p.Met276Leu)	PDHB (M258L +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 991899	NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)	PDHB (I261T +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 991898	NM_000925.4(PDHB):c.841G>T (p.Ala281Ser)	PDHB (A263S +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 991897	NM_000925.4(PDHB):c.847G>A (p.Val283Ile)	PDHB (V265I +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 991896	NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 991895	NM_000925.4(PDHB):c.*7C>G	PDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 991386	NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser)	PDHA1 (N350S +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 991385	NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)	PDHA1 (D216N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 991384	NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)	PDHA1 (I190V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989801	NM_000925.4(PDHB):c.-4C>T	PDHB	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 989800	NM_000925.4(PDHB):c.25C>A (p.Arg9=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 989799	NM_000925.4(PDHB):c.185A>G (p.Gln62Arg)	PDHB (Q44R +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase complex deficiency	GUncertain significance
Select item 970499	NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)	PDHB (I343M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 917796	NM_000284.4(PDHA1):c.900-2dup	PDHA1	Duplication (splice acceptor variant)	not specified +1 more	GUncertain significance
Select item 912975	NM_000284.4(PDHA1):c.*110C>T	PDHA1	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GBenign
Select item 911751	NM_000108.5(DLD):c.*1640A>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 911618	NM_000108.5(DLD):c.*739G>A	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 911498	NM_000108.5(DLD):c.1313T>C (p.Met438Thr)	DLD (M339T +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 911148	NM_000108.5(DLD):c.30C>A (p.Ser10=)	DLD	Single nucleotide variant (5 prime UTR variant +1 more)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 910509	NM_000108.5(DLD):c.*1505C>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 910455	NM_000108.5(DLD):c.*1074C>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GBenign
Select item 910454	NM_000108.5(DLD):c.*1027T>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 909641	NM_000108.5(DLD):c.*1876G>A	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 909586	NM_000108.5(DLD):c.*1422C>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 909585	NM_000108.5(DLD):c.*1401G>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 909455	NM_000108.5(DLD):c.*474T>C	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +3 more	GBenign/Likely benign
Select item 909454	NM_000108.5(DLD):c.*470G>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +3 more	GBenign/Likely benign
Select item 909237	NM_000108.5(DLD):c.226C>T (p.Leu76Phe)	DLD (L76F)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 909173	NM_000108.5(DLD):c.-10C>T	DLD	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 908729	NM_000108.5(DLD):c.*1300A>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GBenign
Select item 908728	NM_000108.5(DLD):c.*1231A>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 908727	NM_000108.5(DLD):c.*1145A>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 908669	NM_000108.5(DLD):c.*898C>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 908668	NM_000108.5(DLD):c.*887T>C	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GBenign/Likely benign
Select item 908667	NM_000108.5(DLD):c.*845G>A	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 908600	NM_000108.5(DLD):c.*394A>G	DLD	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GUncertain significance
Select item 908599	NM_000108.5(DLD):c.*374G>T	DLD	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GUncertain significance
Select item 908459	NM_000108.5(DLD):c.520A>G (p.Ile174Val)	DLD (I151V +2 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GUncertain significance
Select item 857516	NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)	PDHA1 (K313R +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 797499	NM_000284.4(PDHA1):c.870C>T (p.His290=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GBenign/Likely benign
Select item 762639	NM_000284.4(PDHA1):c.894A>G (p.Gly298=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GConflicting classifications of pathogenicity
Select item 759232	NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GBenign/Likely benign
Select item 751771	NM_000108.5(DLD):c.375G>A (p.Glu125=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase complex deficiency +2 more	GConflicting classifications of pathogenicity
Select item 731956	NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)	PDHA1 (D372N +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign/Likely benign
Select item 729967	NM_000925.4(PDHB):c.97-5G>A	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 723891	NM_000284.4(PDHA1):c.759+10C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 721851	NM_000925.4(PDHB):c.417T>C (p.Pro139=)	PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 665997	NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)	PDHA1 (G114S +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 655703	NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)	PDHA1 (I249S +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GUncertain significance FDA Recognized database
Select item 627558	NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp)	PDHA1 (E75D +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GPathogenic
Select item 588425	NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)	PDHA1 (M324I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 578582	NM_000108.5(DLD):c.55C>G (p.Arg19Gly)	DLD (R19G)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase complex deficiency +3 more	GUncertain significance
Select item 523915	NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer)	PDHA1	Deletion (frameshift variant)	not specified	GLikely benign
Select item 510967	NM_000108.5(DLD):c.507C>T (p.Gly169=)	DLD	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 495793	NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)	PDHA1	Duplication (inframe_insertion)	Pyruvate dehydrogenase complex deficiency	GLikely pathogenic
Select item 488571	NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)	PDHA1 (R311del +3 more)	Microsatellite (inframe_deletion)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GPathogenic
Select item 488569	NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	PDHA1 (N164S +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GConflicting classifications of pathogenicity
Select item 421578	NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)	PDHA1	Deletion (stop lost)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 382483	NM_000108.5(DLD):c.321A>G (p.Ala107=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 381875	NM_000284.4(PDHA1):c.693G>A (p.Thr231=)	PDHA1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 378343	NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)	PDHA1 (E333D +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GBenign FDA Recognized database
Select item 378342	NM_000284.4(PDHA1):c.798A>G (p.Thr266=)	PDHA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 369575	NM_002291.3(LAMB1):c.5225-7C>T	DLD, LAMB1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 369422	NM_000925.3(PDHB):c.407_408delAA	PDHB	Deletion	Pyruvate dehydrogenase complex deficiency	GLikely benign
Select item 358594	NM_000108.5(DLD):c.*1877A>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358593	NM_000108.5(DLD):c.*1857A>C	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358592	NM_000108.5(DLD):c.1791_1794del	DLD	Deletion (3 prime UTR variant)	Maple syrup urine disease +2 more	GUncertain significance
Select item 358591	NM_000108.5(DLD):c.*1736T>C	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 358590	NM_000108.5(DLD):c.*1724C>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358589	NM_000108.5(DLD):c.*1688G>A	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +3 more	GBenign
Select item 358588	NM_000108.5(DLD):c.*1451T>C	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +3 more	GBenign
Select item 358587	NM_000108.5(DLD):c.*1307C>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358586	NM_000108.5(DLD):c.*1092C>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358585	NM_000108.5(DLD):c.*1088A>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 358584	NM_000108.5(DLD):c.*978T>C	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GBenign
Select item 358583	NM_000108.5(DLD):c.*947G>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GBenign
Select item 358582	NM_000108.5(DLD):c.*855C>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GBenign
Select item 358581	NM_000108.5(DLD):c.*648G>A	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +3 more	GBenign/Likely benign
Select item 358580	NM_000108.5(DLD):c.*498T>G	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GUncertain significance
Select item 358579	NM_000108.5(DLD):c.*487C>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +3 more	GBenign
Select item 358578	NM_000108.5(DLD):c.*470G>A	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 358577	NM_000108.5(DLD):c.*355A>G	DLD	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +2 more	GUncertain significance
Select item 358576	NM_000108.5(DLD):c.*225C>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358575	NM_000108.5(DLD):c.*207G>A	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GBenign
Select item 358574	NM_000108.5(DLD):c.*167T>C	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358573	NM_000108.5(DLD):c.*28G>T	DLD	Single nucleotide variant (3 prime UTR variant)	Pyruvate dehydrogenase complex deficiency +2 more	GBenign
Select item 358572	NM_000108.5(DLD):c.1503G>A (p.Ala501=)	DLD	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 358571	NM_000108.5(DLD):c.1465-7C>G	DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 358570	NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)	DLD (K410Q +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358569	NM_000108.5(DLD):c.860G>A (p.Gly287Glu)	DLD (G287E +3 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 358568	NM_000108.5(DLD):c.677T>C (p.Val226Ala)	DLD (V226A +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358567	NM_000108.5(DLD):c.267+15del	DLD	Deletion (intron variant)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 358566	NM_000108.5(DLD):c.117G>A (p.Pro39=)	DLD	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance
Select item 358565	NM_000108.5(DLD):c.116C>T (p.Pro39Leu)	DLD (P39L)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase complex deficiency +2 more	GUncertain significance

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