C3711645[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296852	NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GConflicting classifications of pathogenicity
Select item 876113	NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)	HMGCL (E114K)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 895644	NM_000182.5(HADHA):c.*586G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895645	NM_000182.5(HADHA):c.*561C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 335363	NM_000182.5(HADHA):c.*510A>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GBenign
Select item 335364	NM_000182.5(HADHA):c.*494G>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 335365	NM_000182.5(HADHA):c.*489G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335366	NM_000182.5(HADHA):c.*458TG[3]	GAREM2, HADHA	Microsatellite (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 897058	NM_000182.5(HADHA):c.*437T>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 335367	NM_000182.5(HADHA):c.*405C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 897539	NM_000182.5(HADHA):c.*403C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335368	NM_000182.5(HADHA):c.*389C>G	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335369	NM_000182.5(HADHA):c.*373GT[1]	GAREM2, HADHA	Microsatellite (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335370	NM_000182.5(HADHA):c.*355C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 898690	NM_000182.5(HADHA):c.*331T>C	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 335371	NM_000182.5(HADHA):c.*302G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 898691	NM_000182.5(HADHA):c.*239C>T	HADHA, GAREM2	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335372	NM_000182.5(HADHA):c.*202G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +2 more	GBenign
Select item 895708	NM_000182.5(HADHA):c.*182C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895709	NM_000182.5(HADHA):c.*110G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895710	NM_000182.5(HADHA):c.*103A>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 895994	NM_000182.5(HADHA):c.*59C>T	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895995	NM_000182.5(HADHA):c.*46G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 895996	NM_000182.5(HADHA):c.2192A>T (p.Asp731Val)	GAREM2, HADHA (D731V)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 512927	NM_000182.5(HADHA):c.2175C>T (p.Gly725=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	HADHA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 335373	NM_000182.5(HADHA):c.2147-8C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 335374	NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)	GAREM2, HADHA (V705I)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GUncertain significance
Select item 705774	NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)	GAREM2, HADHA (M687T)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GBenign
Select item 897592	NM_000182.5(HADHA):c.2037A>G (p.Thr679=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 92595	NM_000182.5(HADHA):c.1981C>T (p.Leu661=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +3 more	GBenign/Likely benign
Select item 728421	NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)	GAREM2, HADHA (N649K)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 335375	NM_000182.5(HADHA):c.1912A>G (p.Ile638Val)	GAREM2, HADHA (I638V)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 335376	NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)	GAREM2, HADHA (R610Q)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 335377	NM_000182.5(HADHA):c.1794T>C (p.His598=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 389019	NM_000182.5(HADHA):c.1788G>A (p.Ala596=)	HADHA, GAREM2	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 203739	NM_000182.5(HADHA):c.1690-6G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GBenign
Select item 335378	NM_000182.5(HADHA):c.1690-13G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 335379	NM_000182.5(HADHA):c.1690-14C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	HADHA-related condition +2 more	GBenign/Likely benign
Select item 896065	NM_000182.5(HADHA):c.1689+11C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 335380	NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)	GAREM2, HADHA (A552V)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 137531	NM_000182.5(HADHA):c.1620+11G>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +3 more	GBenign/Likely benign
Select item 100085	NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	GAREM2, HADHA (E510Q)	Single nucleotide variant (missense variant)	HADHA-Related Disorders +6 more	GPathogenic
Select item 203738	NM_000182.5(HADHA):c.1392+10G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 507903	NM_000182.5(HADHA):c.1284C>T (p.Asn428=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +3 more	GConflicting classifications of pathogenicity
Select item 335381	NM_000182.5(HADHA):c.1212G>C (p.Val404=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +3 more	GConflicting classifications of pathogenicity
Select item 235806	NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)	HADHA (Q358K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 335382	NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)	HADHA (G311A)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 898819	NM_000182.5(HADHA):c.869T>C (p.Val290Ala)	HADHA (V290A)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 335383	NM_000182.5(HADHA):c.858G>A (p.Val286=)	HADHA	Single nucleotide variant (synonymous variant)	HADHA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 335384	NM_000182.5(HADHA):c.676+6T>C	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 570809	NM_000182.5(HADHA):c.652G>C (p.Val218Leu)	HADHA (V218L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 335385	NM_000182.5(HADHA):c.585T>A (p.Pro195=)	HADHA	Single nucleotide variant (synonymous variant)	HADHA-related condition +2 more	GConflicting classifications of pathogenicity
Select item 335386	NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)	HADHA (R187T)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GUncertain significance
Select item 92596	NM_000182.5(HADHA):c.474C>T (p.Tyr158=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +2 more	GBenign
Select item 335387	NM_000182.5(HADHA):c.454-13C>T	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 646417	NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)	HADHA (A109T)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GUncertain significance
Select item 189105	NM_000182.5(HADHA):c.274_278del (p.Ser92fs)	HADHA (S92fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 752873	NM_000182.5(HADHA):c.189A>G (p.Thr63=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 335388	NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)	HADHA (R27C)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 335389	NM_000182.5(HADHA):c.68-10T>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +2 more	GBenign
Select item 897731	NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)	HADHA (S14F)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 897732	NM_000182.5(HADHA):c.27C>T (p.Ile9=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 335390	NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)	HADHA (A6P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 92593	NM_000182.5(HADHA):c.-1G>T	HADHA	Single nucleotide variant (5 prime UTR variant)	HADHA-related condition +4 more	GBenign/Likely benign
Select item 203741	NM_000182.5(HADHA):c.-25C>G	HADHA	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 335391	NM_000182.4(HADHA):c.-37T>C	HADHA	Single nucleotide variant	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335393	NM_000183.2(HADHB):c.-214C>T	HADHA, HADHB	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 335395	NM_000183.2(HADHB):c.-201G>A	HADHA, HADHB	Single nucleotide variant	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 335396	NM_000183.2(HADHB):c.-185G>C	HADHA, HADHB	Single nucleotide variant	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 335399	NM_000183.2(HADHB):c.-124C>G	HADHA, HADHB	Single nucleotide variant	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance

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Items: 70