ClinVar for MedGen (Select 481471) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3016001	NM_000925.4(PDHB):c.793-19_793-16del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 3014800	NM_000925.4(PDHB):c.578del (p.Asp193fs)	PDHB (D175fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 3014295	NM_000925.4(PDHB):c.204+14A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 3013277	NM_000925.4(PDHB):c.141G>A (p.Leu47=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 3010626	NM_000925.4(PDHB):c.590-9G>A	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 3003908	NM_000925.4(PDHB):c.533_534delinsAA (p.Trp178Ter)	PDHB (W160* +1 more)	Indel (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 3000372	NM_000925.4(PDHB):c.589+14C>T	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2979663	NM_000925.4(PDHB):c.204+15T>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2975494	NM_000925.4(PDHB):c.304-1G>C	PDHB	Single nucleotide variant (splice acceptor variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2965974	NM_000925.4(PDHB):c.97-8T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2961732	NM_000925.4(PDHB):c.1074T>C (p.Asn358=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2961156	NM_000925.4(PDHB):c.478_479del (p.Gln160fs)	PDHB (Q142fs +1 more)	Microsatellite (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 2959829	NM_000925.4(PDHB):c.97-13A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2958085	NM_000925.4(PDHB):c.589+9A>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2956930	NM_000925.4(PDHB):c.205-6T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2955945	NM_000925.4(PDHB):c.927C>T (p.Ile309=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	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 2916393	NM_000925.4(PDHB):c.268-16A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2915627	NM_000925.4(PDHB):c.267+19A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2914321	NM_000925.4(PDHB):c.590-11A>G	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 2909971	NM_000925.4(PDHB):c.792+18T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2902225	NM_000925.4(PDHB):c.201C>T (p.Tyr67=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2901104	NM_000925.4(PDHB):c.309G>T (p.Gly103=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2895442	NM_000925.4(PDHB):c.934+11G>T	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2895078	NM_000925.4(PDHB):c.273C>T (p.Gly91=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2890975	NM_000925.4(PDHB):c.600A>G (p.Leu200=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2890365	NM_000925.4(PDHB):c.531C>T (p.Pro177=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	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 2883705	NM_000925.4(PDHB):c.793-16T>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2882817	NM_000925.4(PDHB):c.935-17del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2878087	NM_000925.4(PDHB):c.793-16T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2875705	NM_000925.4(PDHB):c.935-14CTTC[3]	PDHB	Microsatellite (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2865848	NM_000925.4(PDHB):c.792+19_792+24del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2863081	NM_000925.4(PDHB):c.303+9T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2860664	NM_000925.4(PDHB):c.825C>T (p.Asp275=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2859779	NM_000925.4(PDHB):c.639_655del (p.Pro214fs)	PDHB (P214fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 2857288	NM_000925.4(PDHB):c.1053T>C (p.Phe351=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2854564	NM_000925.4(PDHB):c.480G>A (p.Gln160=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2854465	NM_000925.4(PDHB):c.519G>A (p.Lys173=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2853430	NM_000925.4(PDHB):c.231T>G (p.Tyr77Ter)	PDHB (Y59* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
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 2840521	NM_000925.4(PDHB):c.205-8A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2838126	NM_000925.4(PDHB):c.984T>C (p.Ala328=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2837648	NM_000925.4(PDHB):c.906A>G (p.Gly302=)	PDHB	Single nucleotide variant (synonymous 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 2834403	NM_000925.4(PDHB):c.803del (p.Met268fs)	PDHB (M250fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
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 2825014	NM_000925.4(PDHB):c.177A>G (p.Glu59=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2806999	NM_000925.4(PDHB):c.204+10A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2804022	NM_000925.4(PDHB):c.570C>T (p.Ala190=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2799883	NM_000925.4(PDHB):c.495G>A (p.Trp165Ter)	PDHB (W147* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 2798851	NM_000925.4(PDHB):c.935-17A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2798650	NM_000925.4(PDHB):c.303+13C>G	PDHB	Single nucleotide variant (intron variant)	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 2785971	NM_000925.4(PDHB):c.375C>T (p.Asn125=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2784082	NM_000925.4(PDHB):c.205-14A>T	PDHB	Single nucleotide variant (intron variant)	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 2781104	NM_000925.4(PDHB):c.135G>A (p.Glu45=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2781103	NM_000925.4(PDHB):c.303+1G>C	PDHB	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely pathogenic
Select item 2768889	NM_000925.4(PDHB):c.304-9A>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2767406	NM_000925.4(PDHB):c.114T>C (p.Ala38=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2765086	NM_000925.4(PDHB):c.205-16C>A	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2761997	NM_000925.4(PDHB):c.304-17C>T	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
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 2760571	NM_000925.4(PDHB):c.714dup (p.Val239fs)	PDHB (V221fs +1 more)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic
Select item 2757324	NM_000925.4(PDHB):c.204+9A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2756972	NM_000925.4(PDHB):c.483C>T (p.Cys161=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2750508	NM_000925.4(PDHB):c.303+12T>A	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2750446	NM_000925.4(PDHB):c.408C>T (p.Gly136=)	PDHB	Single nucleotide variant (synonymous variant +2 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 2742913	NM_000925.4(PDHB):c.304-14T>A	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2740122	NM_000925.4(PDHB):c.741C>T (p.Gly247=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2739443	NM_000925.4(PDHB):c.204+17A>G	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2735282	NM_000925.4(PDHB):c.1065A>G (p.Lys355=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2733425	NM_000925.4(PDHB):c.204+10A>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2732580	NM_000925.4(PDHB):c.700+18T>C	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2732344	NM_000925.4(PDHB):c.238_239del (p.Lys80fs)	PDHB (K62fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GPathogenic/Likely pathogenic
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 2726904	NM_000925.4(PDHB):c.339C>T (p.Phe113=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2725315	NM_000925.4(PDHB):c.198A>C (p.Ala66=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	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 2717021	NM_000925.4(PDHB):c.474C>T (p.His158=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2716600	NM_000925.4(PDHB):c.267+16G>A	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2715790	NM_000925.4(PDHB):c.951C>T (p.Phe317=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2714334	NM_000925.4(PDHB):c.792+13T>C	PDHB	Single nucleotide variant (intron variant)	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 2709597	NM_000925.4(PDHB):c.590-12T>A	PDHB	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2708556	NM_000925.4(PDHB):c.700+9del	PDHB	Deletion (intron variant)	Pyruvate dehydrogenase E1-beta deficiency	GBenign
Select item 2704225	NM_000925.4(PDHB):c.261A>T (p.Ile87=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2703955	NM_000925.4(PDHB):c.952C>T (p.Leu318=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign
Select item 2698995	NM_000925.4(PDHB):c.390C>G (p.Thr130=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GLikely benign

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