C1969443[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 188962	NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	GAREM2, HADHA (H598fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 429528	NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)	GAREM2, HADHA (Y546C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 495725	NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)	GAREM2, HADHA (K489E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 570488	NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln)	GAREM2, HADHA (R399Q)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GUncertain significance
Select item 1163205	NM_000182.5(HADHA):c.1167dup (p.Lys390Ter)	GAREM2, HADHA (K390*)	Duplication (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 940137	NM_000182.5(HADHA):c.1141G>A (p.Val381Met)	GAREM2, HADHA (V381M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1347776	NM_000182.5(HADHA):c.743C>T (p.Ala248Val)	HADHA (A248V)	Single nucleotide variant (missense variant)	not provided +2 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 536659	NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)	HADHA (A197S)	Single nucleotide variant (missense variant)	HADHA-related condition +3 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 1206920	NM_000182.5(HADHA):c.316A>G (p.Met106Val)	HADHA (M106V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 2155029	NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)	HADHB (A37P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1162917	NM_000183.3(HADHB):c.109+4C>T	HADHB	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 335404	NM_000183.3(HADHB):c.272C>T (p.Thr91Ile)	HADHB (T91I +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 424236	NM_000183.3(HADHB):c.565G>A (p.Ala189Thr)	HADHB (A189T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 450898	NM_000183.3(HADHB):c.589T>C (p.Ser197Pro)	HADHB (S197P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1343446	NM_000183.3(HADHB):c.608G>A (p.Arg203Gln)	HADHB (R181Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 849588	NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)	HADHB (D357V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 21