ClinVar for MedGen (Select 78692) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370427	NM_000191.3(HMGCL):c.610dup (p.Asp204fs)	HMGCL (D133fs +1 more)	Duplication (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 3339222	NM_000191.3(HMGCL):c.425C>T (p.Ser142Phe)	HMGCL (S142F)	Single nucleotide variant (missense variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 3247679	NC_000001.10:g.(?_24127494)_(24130949_?)del	HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 3247678	NC_000001.10:g.(?_24122439)_(24134833_?)del	GALE, HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 3247677	NC_000001.10:g.(?_24122439)_(24144093_?)del	GALE, HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 3247676	NC_000001.10:g.(?_24132578)_(24134831_?)del	HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 3247675	NC_000001.10:g.(?_24146980)_(24147103_?)del	HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 3247674	NC_000001.10:g.(?_24151826)_(24151905_?)del	HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 3247673	NC_000001.10:g.(?_24125085)_(24151905_?)del	GALE, HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 3023569	NM_000191.3(HMGCL):c.252+14C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 3022492	NM_000191.3(HMGCL):c.876+17C>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 3018337	NM_000191.3(HMGCL):c.108G>C (p.Val36=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 3018215	NM_000191.3(HMGCL):c.121C>A (p.Arg41=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 3018064	NM_000191.3(HMGCL):c.877-17dup	HMGCL	Duplication (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 3016011	NM_000191.3(HMGCL):c.724_725del (p.Leu242fs)	HMGCL (L171fs +1 more)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 3009588	NM_000191.3(HMGCL):c.477del (p.Ala160fs)	HMGCL (A160fs)	Deletion (frameshift variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 3008450	NM_000191.3(HMGCL):c.61-11T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2995706	NM_000191.3(HMGCL):c.751-11T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2995142	NM_000191.3(HMGCL):c.562-16C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2990901	NM_000191.3(HMGCL):c.408G>A (p.Lys136=)	HMGCL	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2985625	NM_000191.3(HMGCL):c.130C>T (p.Leu44=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2984572	NM_000191.3(HMGCL):c.876+7C>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2980005	NM_000191.3(HMGCL):c.60+1G>C	HMGCL	Single nucleotide variant (splice donor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2979000	NM_000191.3(HMGCL):c.144+16A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2977722	NM_000191.3(HMGCL):c.144+15G>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2969487	NM_000191.3(HMGCL):c.751-9T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2967669	NM_000191.3(HMGCL):c.497+20T>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2962394	NM_000191.3(HMGCL):c.561+1G>T	HMGCL	Single nucleotide variant (intron variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2962212	NM_000191.3(HMGCL):c.627C>T (p.Gly209=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2960357	NM_000191.3(HMGCL):c.411G>A (p.Lys137=)	HMGCL	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2958036	NM_000191.3(HMGCL):c.253-18G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2955056	NM_000191.3(HMGCL):c.144+18C>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2918485	NM_000191.3(HMGCL):c.562-14G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2917014	NM_000191.3(HMGCL):c.60+20G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2915002	NM_000191.3(HMGCL):c.21G>T (p.Ala7=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2913849	NM_000191.3(HMGCL):c.231G>A (p.Val77=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2910534	NM_000191.3(HMGCL):c.750+14del	HMGCL	Deletion (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2908378	NM_000191.3(HMGCL):c.561+9A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2907942	NM_000191.3(HMGCL):c.321C>A (p.Thr107=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2905393	NM_000191.3(HMGCL):c.876+19del	HMGCL	Deletion (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2905142	NM_000191.3(HMGCL):c.348+20G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2901869	NM_000191.3(HMGCL):c.498-12G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2894788	NM_000191.3(HMGCL):c.252+12C>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2894540	NM_000191.3(HMGCL):c.60+12G>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2888513	NM_000191.3(HMGCL):c.348+14T>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2884379	NM_000191.3(HMGCL):c.894G>A (p.Lys298=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2884222	NM_000191.3(HMGCL):c.61-14C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2876910	NM_000191.3(HMGCL):c.336C>G (p.Gly112=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2868137	NM_000191.3(HMGCL):c.966C>G (p.Thr322=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2863987	NM_000191.3(HMGCL):c.349-19T>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2860100	NM_000191.3(HMGCL):c.750+14T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2855773	NM_000191.3(HMGCL):c.252+18A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2853939	NM_000191.3(HMGCL):c.751-17C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2853560	NM_000191.3(HMGCL):c.145-1G>C	HMGCL	Single nucleotide variant (splice acceptor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2849200	NM_000191.3(HMGCL):c.61-13T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2849045	NM_000191.3(HMGCL):c.732C>T (p.Asn244=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2848766	NM_000191.3(HMGCL):c.484dup (p.Ile162fs)	HMGCL (I162fs)	Duplication (frameshift variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 2847074	NM_000191.3(HMGCL):c.714T>C (p.Tyr238=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2846526	NM_000191.3(HMGCL):c.51C>A (p.Ser17=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2837026	NM_000191.3(HMGCL):c.498-12G>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2836623	NM_000191.3(HMGCL):c.877-11G>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2835792	NM_000191.3(HMGCL):c.315C>G (p.Val105=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2835220	NM_000191.3(HMGCL):c.751-15T>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2834473	NM_000191.3(HMGCL):c.561+15C>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2827065	NM_000191.3(HMGCL):c.874dup (p.Thr292fs)	HMGCL (T292fs +1 more)	Duplication (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 2819634	NM_000191.3(HMGCL):c.145-19G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2817167	NM_000191.3(HMGCL):c.876+18del	HMGCL	Deletion (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GBenign
Select item 2816172	NM_000191.3(HMGCL):c.627C>A (p.Gly209=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2809247	NM_000191.3(HMGCL):c.145-11C>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2805837	NM_000191.3(HMGCL):c.497+13A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2805241	NM_000191.3(HMGCL):c.877-17T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2803448	NM_000191.3(HMGCL):c.145-7A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2798149	NM_000191.3(HMGCL):c.840C>T (p.Asp280=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2786759	NM_000191.3(HMGCL):c.60+7G>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2781420	NM_000191.3(HMGCL):c.497+1G>A	HMGCL	Single nucleotide variant (intron variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2779640	NM_000191.3(HMGCL):c.153A>G (p.Val51=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2778011	NM_000191.3(HMGCL):c.252+19T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2776266	NM_000191.3(HMGCL):c.348+17_348+19del	HMGCL	Microsatellite (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2771422	NM_000191.3(HMGCL):c.349-17C>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2770993	NM_000191.3(HMGCL):c.144+20A>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2764282	NM_000191.3(HMGCL):c.862T>C (p.Leu288=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2764142	NM_000191.3(HMGCL):c.360A>T (p.Gly120=)	HMGCL	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2763180	NM_000191.3(HMGCL):c.48_60+289del	HMGCL	Deletion (splice donor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2748446	NM_000191.3(HMGCL):c.414C>T (p.Asn138=)	HMGCL	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2747196	NM_000191.3(HMGCL):c.750+2T>C	HMGCL	Single nucleotide variant (splice donor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2738582	NM_000191.3(HMGCL):c.319del (p.Thr107fs)	HMGCL (T107fs)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 2733864	NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)	HMGCL (D42G)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2733863	NM_000191.3(HMGCL):c.144G>T (p.Lys48Asn)	HMGCL (K48N)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 2731491	NM_000191.3(HMGCL):c.519C>T (p.Gly173=)	HMGCL	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2725735	NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)	HMGCL (G218D +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2724014	NM_000191.3(HMGCL):c.33A>T (p.Arg11=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2722798	NM_000191.3(HMGCL):c.562-12T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2710321	NM_000191.3(HMGCL):c.349-4G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2705701	NM_000191.3(HMGCL):c.336C>A (p.Gly112=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2704432	NM_000191.3(HMGCL):c.61-4A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2702420	NM_000191.3(HMGCL):c.61-16C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely benign
Select item 2701358	NM_000191.3(HMGCL):c.60+6T>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2692231	NM_000191.3(HMGCL):c.116G>A (p.Gly39Asp)	HMGCL (G39D)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2690622	NM_000191.3(HMGCL):c.71C>G (p.Ser24Ter)	HMGCL (S24*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 2676034	NM_000191.3(HMGCL):c.866del (p.Gly289fs)	HMGCL (G218fs +1 more)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic/Likely pathogenic

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