"PreventionGenetics, part of Exact Sciences"[submitter] AND "HADHB"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335397	NM_000183.2(HADHB):c.-176G>T	HADHB	Single nucleotide variant	HADHB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 335398	NM_000183.2(HADHB):c.-173T>C	HADHA, HADHB	Single nucleotide variant	Mitochondrial trifunctional protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 335401	NM_000183.3(HADHB):c.64+11T>C	HADHB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1298796	NM_000183.3(HADHB):c.110-2351G>T	HADHB	Single nucleotide variant (synonymous variant +1 more)	HADHB-related disorder +1 more	GLikely benign
Select item 2633541	NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)	HADHB (T47fs +1 more)	Duplication (frameshift variant)	HADHB-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3051929	NM_000183.3(HADHB):c.442+665A>G	HADHB	Single nucleotide variant (intron variant)	HADHB-related disorder	GLikely benign
Select item 2991276	NM_000183.3(HADHB):c.451T>C (p.Leu151=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2635256	NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)	HADHB (R225C +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2900969	NM_000183.3(HADHB):c.807A>C (p.Val269=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 3015493	NM_000183.3(HADHB):c.1026T>C (p.Tyr342=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 706365	NM_000183.3(HADHB):c.1119T>C (p.Ile373=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +2 more	GLikely benign
Select item 3053648	NM_000183.3(HADHB):c.1203C>T (p.Asn401=)	HADHB	Single nucleotide variant (synonymous variant)	HADHB-related disorder	GLikely benign
Select item 1092026	NM_000183.3(HADHB):c.1224+5G>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 3048036	NM_000183.3(HADHB):c.1389+4C>G	HADHB	Single nucleotide variant (intron variant)	HADHB-related disorder	GLikely benign