Related gene-specific medical variations for Gene (Select 1738) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3594245	NM_000108.5(DLD):c.1237-2A>G	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3594244	NM_000108.5(DLD):c.1141dup (p.Ala381fs)	DLD (A381fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3594243	NM_000108.5(DLD):c.1046+1G>T	DLD	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3594240	NM_000108.5(DLD):c.796C>T (p.Gln266Ter)	DLD (Q266* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3594239	NM_000108.5(DLD):c.633del (p.Val212fs)	DLD (V113fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3594238	NM_000108.5(DLD):c.595dup (p.Thr199fs)	DLD (T100fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3594237	NM_000108.5(DLD):c.589G>T (p.Glu197Ter)	DLD (E149* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3594236	NM_000108.5(DLD):c.573del (p.Gly192fs)	DLD (G169fs +2 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3594235	NM_000108.5(DLD):c.1A>C (p.Met1Leu)	DLD (M1L)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 3382305	NM_000108.5(DLD):c.1310G>A (p.Gly437Asp)	DLD (G338D +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 3245828	NC_000007.13:g.(?_107542163)_(107559704_?)del	DLD	Deletion	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 3245827	NC_000007.13:g.(?_107531696)_(107533743_?)del	DLD	Deletion	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 3241339	NM_000108.5(DLD):c.1047-2A>G	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3241338	NM_000108.5(DLD):c.259C>T (p.Pro87Ser)	DLD (P87S)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 3239661	NM_000108.5(DLD):c.337+4_337+7del	DLD	Microsatellite (splice donor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2853421	NM_000108.5(DLD):c.1374+16C>T	DLD, LOC129999127	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2815019	NM_000108.5(DLD):c.1374+17C>T	DLD, LOC129999127	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2745803	NM_000108.5(DLD):c.1374+12A>G	DLD, LOC129999127	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 2674863	NM_000108.5(DLD):c.632_633del (p.Lys211fs)	DLD (K112fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674862	NM_000108.5(DLD):c.1185dup (p.His396fs)	DLD (H297fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674861	NM_000108.5(DLD):c.119-1G>T	DLD	Single nucleotide variant (splice acceptor variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674860	NM_000108.5(DLD):c.1016del (p.Val339fs)	DLD (V240fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674859	NM_000108.5(DLD):c.184C>T (p.Gln62Ter)	DLD (Q62*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3 deficiency	GPathogenic
Select item 2674858	NM_000108.5(DLD):c.737del (p.Gly246fs)	DLD (G147fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674857	NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)	DLD (A264fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674855	NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)	DLD (E308* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674854	NM_000108.5(DLD):c.1233dup (p.Glu412fs)	DLD (E313fs +3 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674853	NM_000108.5(DLD):c.943C>T (p.Arg315Ter)	DLD (R216* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674852	NM_000108.5(DLD):c.856_857del (p.Asp286fs)	DLD (D187fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674851	NM_000108.5(DLD):c.1047-1G>A	DLD	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674849	NM_000108.5(DLD):c.225_226del (p.Leu76fs)	DLD (L76fs)	Microsatellite (frameshift variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2674848	NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)	DLD (S306* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2582406	NM_000108.5(DLD):c.217A>C (p.Asn73His)	DLD (N73H)	Single nucleotide variant (intron variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2442023	NM_000108.5(DLD):c.13A>G (p.Ser5Gly)	DLD (S5G)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2440801	NM_000108.5(DLD):c.803A>G (p.Gln268Arg)	DLD (Q169R +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2439735	NM_000108.5(DLD):c.439-1G>C	DLD	Single nucleotide variant (intron variant +1 more)	Pyruvate dehydrogenase E3 deficiency	GLikely pathogenic
Select item 2141645	NM_000108.5(DLD):c.1373C>T (p.Pro458Leu)	DLD, LOC129999127 (P435L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 2045803	NM_000108.5(DLD):c.1374+9T>G	DLD, LOC129999127	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1603583	NM_000108.5(DLD):c.1374+8T>C	DLD, LOC129999127	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 1424240	NM_000108.5(DLD):c.1372C>G (p.Pro458Ala)	DLD, LOC129999127 (P359A +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 1181957	NM_000108.5(DLD):c.1374+116A>G	DLD, LOC129999127	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1108088	NM_000108.5(DLD):c.1374+10G>A	DLD, LOC129999127	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign
Select item 990105	NM_000108.5(DLD):c.1333A>G (p.Lys445Glu)	DLD (K346E +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 931300	NM_000108.5(DLD):c.857A>G (p.Asp286Gly)	DLD (D187G +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3 deficiency	GUncertain significance
Select item 799345	NM_000108.5(DLD):c.1374+9T>A	LOC129999127, DLD	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3 deficiency	GLikely benign

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Links from Gene

Items: 45