Related gene-specific medical variations for Gene (Select 5162) - ClinVar

Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362007	NM_000925.4(PDHB):c.478C>G (p.Gln160Glu)	PDHB (Q142E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3240067	NM_000925.4(PDHB):c.892_893del (p.Gln298fs)	PDHB (Q280fs +1 more)	Microsatellite (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 3240066	NM_000925.4(PDHB):c.669dup (p.Pro224fs)	PDHB (P206fs +1 more)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 3023756	NM_000925.4(PDHB):c.96+19C>T	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2916770	NM_000925.4(PDHB):c.96+17C>T	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2913186	NM_000925.4(PDHB):c.42+18G>A	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2912099	NM_000925.4(PDHB):c.96+13G>T	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2888957	NM_000925.4(PDHB):c.42+20C>G	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2887686	NM_000925.4(PDHB):c.43-11C>T	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2846281	NM_000925.4(PDHB):c.42+14C>T	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2837309	NM_000925.4(PDHB):c.27G>A (p.Arg9=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2828834	NM_000925.4(PDHB):c.39G>A (p.Arg13=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2798358	NM_000925.4(PDHB):c.42+14C>G	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2794287	NM_000925.4(PDHB):c.93G>A (p.Leu31=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2781131	NM_000925.4(PDHB):c.41_43-12del	LOC129936949, PDHB	Deletion (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2760620	NM_000925.4(PDHB):c.27G>C (p.Arg9=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2746334	NM_000925.4(PDHB):c.42+19C>T	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2731111	NM_000925.4(PDHB):c.96+9C>G	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2727970	NM_000925.4(PDHB):c.96+13G>A	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2723159	NM_000925.4(PDHB):c.96+14G>T	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2720736	NM_000925.4(PDHB):c.42+11G>A	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2710593	NM_000925.4(PDHB):c.6G>C (p.Ala2=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2677601	NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)	PDHB (E185* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2677599	NM_000925.4(PDHB):c.934+1G>A	PDHB	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2677597	NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)	PDHB (Q100* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2677595	NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)	PDHB (Q139* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2501782	NM_000925.4(PDHB):c.1A>G (p.Met1Val)	PDHB (M1V)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 2445819	NM_000925.4(PDHB):c.3G>C (p.Met1Ile)	LOC129936949, PDHB (M1I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2199387	NM_000925.4(PDHB):c.96+19C>G	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2185612	NM_000925.4(PDHB):c.13T>C (p.Ser5Pro)	LOC129936949, PDHB (S5P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2182753	NM_000925.4(PDHB):c.5C>T (p.Ala2Val)	LOC129936949, PDHB (A2V)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2094409	NM_000925.4(PDHB):c.15T>G (p.Ser5=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2080682	NM_000925.4(PDHB):c.4G>A (p.Ala2Thr)	LOC129936949, PDHB (A2T)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2069589	NM_000925.4(PDHB):c.96+6A>T	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 2033714	NM_000925.4(PDHB):c.78C>A (p.Thr26=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1966850	NM_000925.4(PDHB):c.43-7C>T	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1953754	NM_000925.4(PDHB):c.39G>T (p.Arg13=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1902029	NM_000925.4(PDHB):c.9G>T (p.Ala3=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1604341	NM_000925.4(PDHB):c.42+9C>G	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1592894	NM_000925.4(PDHB):c.96+8G>T	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1591984	NM_000925.4(PDHB):c.84G>T (p.Pro28=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1583510	NM_000925.4(PDHB):c.96+11C>T	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1569414	NM_000925.4(PDHB):c.43-18T>C	PDHB, LOC129936949	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GBenign
Select item 1485186	NM_000925.4(PDHB):c.36T>C (p.Leu12=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1463811	NM_000925.4(PDHB):c.96+2T>C	LOC129936949, PDHB	Single nucleotide variant (intron variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 1436197	NM_000925.4(PDHB):c.78C>T (p.Thr26=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1414322	NM_000925.4(PDHB):c.14C>A (p.Ser5Tyr)	LOC129936949, PDHB (S5Y)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 1153261	NM_000925.4(PDHB):c.15T>A (p.Ser5=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1152866	NM_000925.4(PDHB):c.52C>T (p.Leu18=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1151265	NM_000925.4(PDHB):c.96+10G>C	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1142107	NM_000925.4(PDHB):c.48C>T (p.Ser16=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1141746	NM_000925.4(PDHB):c.90G>A (p.Ala30=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1139879	NM_000925.4(PDHB):c.6G>A (p.Ala2=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1138089	NM_000925.4(PDHB):c.33C>G (p.Pro11=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1134125	NM_000925.4(PDHB):c.81G>A (p.Ala27=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1131898	NM_000925.4(PDHB):c.33C>T (p.Pro11=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1123808	NM_000925.4(PDHB):c.42+7A>G	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1119394	NM_000925.4(PDHB):c.96+10G>A	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1102617	NM_000925.4(PDHB):c.30A>G (p.Arg10=)	PDHB, LOC129936949	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1089545	NM_000925.4(PDHB):c.42+9C>T	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1080310	NM_000925.4(PDHB):c.15T>C (p.Ser5=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 1036385	NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)	LOC129936949, PDHB (R13Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 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 901694	NM_000925.4(PDHB):c.45C>G (p.Val15=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GConflicting classifications of pathogenicity
Select item 901693	NM_000925.4(PDHB):c.96+12G>A	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GConflicting classifications of pathogenicity
Select item 794269	NM_000925.4(PDHB):c.24G>A (p.Val8=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 766519	NM_000925.4(PDHB):c.27G>T (p.Arg9=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 669536	NM_000925.4(PDHB):c.792+172A>T	LOC129936948, PDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 633485	NM_000925.4(PDHB):c.10G>A (p.Val4Met)	LOC129936949, PDHB (V4M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 507949	NM_000925.4(PDHB):c.96+12G>C	LOC129936949, PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GLikely benign
Select item 391086	NM_000925.4(PDHB):c.96+14G>C	LOC129936949, PDHB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 382646	NM_000925.4(PDHB):c.87T>A (p.Ala29=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 378344	NM_000925.4(PDHB):c.42+16C>T	LOC129936949, PDHB	Single nucleotide variant (non-coding transcript variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GLikely benign
Select item 346412	NM_000925.4(PDHB):c.11T>C (p.Val4Ala)	LOC129936949, PDHB (V4A)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 346411	NM_000925.4(PDHB):c.93G>T (p.Leu31=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 214950	NM_000925.4(PDHB):c.8C>T (p.Ala3Val)	LOC129936949, PDHB (A3V)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GLikely benign

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Links from Gene

Items: 80