C1969443[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723963	NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)	GAREM2, HADHA (N649fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 1726289	NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)	GAREM2, HADHA (K631*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 1725512	NM_000182.5(HADHA):c.1844dup (p.Asn615fs)	GAREM2, HADHA (N615fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 1725474	NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)	GAREM2, HADHA (Q507fs)	Insertion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 984355	NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter)	GAREM2, HADHA (K505*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 1726239	NM_000182.5(HADHA):c.1432del (p.Ala478fs)	GAREM2, HADHA (A478fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1725075	NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)	GAREM2, HADHA (V412fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 983584	NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter)	GAREM2, HADHA (K390*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 983585	NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter)	HADHA (Y320*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 983586	NM_000182.5(HADHA):c.862G>T (p.Glu288Ter)	HADHA (E288*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 983587	NM_000182.5(HADHA):c.859G>T (p.Glu287Ter)	HADHA (E287*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 1725719	NM_000182.5(HADHA):c.761del (p.Lys254fs)	HADHA (K254fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 1725709	NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)	HADHA (Y239*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 983588	NM_000182.5(HADHA):c.667G>T (p.Glu223Ter)	HADHA (E223*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 983589	NM_000182.5(HADHA):c.640A>T (p.Lys214Ter)	HADHA (K214*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 1725386	NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)	HADHA (P189fs)	Indel (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 983590	NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter)	HADHA (Y158*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 983591	NM_000182.5(HADHA):c.451G>T (p.Glu151Ter)	HADHA (E151*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 983871	NM_000182.5(HADHA):c.439G>T (p.Gly147Ter)	HADHA (G147*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 983872	NM_000182.5(HADHA):c.359C>A (p.Ser120Ter)	HADHA (S120*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 983873	NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)	HADHA (Q114*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1725500	NM_000182.5(HADHA):c.284_288del (p.Pro95fs)	HADHA (P95fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic

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Items: 23