"Baylor Genetics"[submitter] AND "HADHB"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1075534	NM_000183.3(HADHB):c.97C>T (p.Arg33Ter)	HADHB (R33*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 449456	NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	HADHB (R61C +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 14845	NM_000183.3(HADHB):c.182G>A (p.Arg61His)	HADHB (R61H +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +3 more	GPathogenic/Likely pathogenic
Select item 3241735	NM_000183.3(HADHB):c.184A>G (p.Thr62Ala)	HADHB (T40A +1 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency 1	GLikely pathogenic
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 2675985	NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)	HADHB (S48* +2 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 2675999	NM_000183.3(HADHB):c.209+1G>C	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 418243	NM_000183.3(HADHB):c.210-1G>T	HADHB	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial trifunctional protein deficiency 1 +2 more	GPathogenic/Likely pathogenic
Select item 431987	NM_000183.3(HADHB):c.254+1G>A	HADHB	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2675988	NM_000183.3(HADHB):c.255-2del	HADHB	Deletion (splice acceptor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2675986	NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)	HADHB (N114D +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2084834	NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)	HADHB (N92S +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2676001	NM_000183.3(HADHB):c.343dup (p.Val115fs)	HADHB (V100fs +2 more)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2027459	NM_000183.3(HADHB):c.354+2T>C	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 235337	NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	HADHB (T133A +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2676002	NM_000183.3(HADHB):c.442+663A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 2675992	NM_000183.3(HADHB):c.466C>T (p.Gln156Ter)	HADHB (Q134* +2 more)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2675996	NM_000183.3(HADHB):c.490G>A (p.Gly164Ser)	HADHB (G142S +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 1031453	NM_000183.3(HADHB):c.493G>A (p.Val165Ile)	HADHB (V143I +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 1324526	NM_000183.3(HADHB):c.527C>G (p.Ser176Ter)	HADHB (S154* +2 more)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency 1 +1 more	GLikely pathogenic
Select item 1526383	NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)	HADHB (R173* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675981	NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)	HADHB (R181* +2 more)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 2675990	NM_000183.3(HADHB):c.630+2_630+6del	HADHB	Deletion (splice donor variant)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 643838	NM_000183.3(HADHB):c.631-2A>C	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2675989	NM_000183.3(HADHB):c.631-1G>A	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency 2 +1 more	GPathogenic/Likely pathogenic
Select item 429516	NM_000183.3(HADHB):c.686G>A (p.Arg229Gln)	HADHB (R229Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 431822	NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)	HADHB (A218fs +2 more)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
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 +2 more	GPathogenic
Select item 14846	NM_000183.3(HADHB):c.740G>A (p.Arg247His)	HADHB (R247H +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency 1 +2 more	GPathogenic/Likely pathogenic
Select item 1722336	NM_000183.3(HADHB):c.811+1G>A	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2675997	NM_000183.3(HADHB):c.811+82A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GPathogenic/Likely pathogenic
Select item 2675998	NM_000183.3(HADHB):c.820dup (p.Thr274fs)	HADHB (T252fs +2 more)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 632355	NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)	HADHB (P294R +2 more)	Single nucleotide variant (missense variant)	HADHA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3241734	NM_000183.3(HADHB):c.933+1G>T	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency 1	GLikely pathogenic
Select item 2676003	NM_000183.3(HADHB):c.962del (p.Met321fs)	HADHB (M299fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency	GPathogenic/Likely pathogenic
Select item 2676000	NM_000183.3(HADHB):c.1013+2T>G	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2675987	NM_000183.3(HADHB):c.1100del (p.Gly367fs)	HADHB (G345fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2675993	NM_000183.3(HADHB):c.1112del (p.Asn371fs)	HADHB (N349fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 1806798	NM_000183.3(HADHB):c.1137del (p.His379fs)	HADHB (H357fs +2 more)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic
Select item 632356	NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu)	HADHB (S383L +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GConflicting classifications of pathogenicity
Select item 2675991	NM_000183.3(HADHB):c.1149+2T>C	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2203024	NM_000183.3(HADHB):c.1150-1G>T	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 1691100	NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)	HADHB (N367D +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 424253	NM_000183.3(HADHB):c.1211dup (p.Gly404_Arg405insTer)	HADHB	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 3241733	NM_000183.3(HADHB):c.1259G>A (p.Trp420Ter)	HADHB (W398* +2 more)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency 1	GLikely pathogenic
Select item 1217468	NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	HADHB (F408S +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2675984	NM_000183.3(HADHB):c.1334T>G (p.Leu445Ter)	HADHB (L423* +2 more)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2675994	NM_000183.3(HADHB):c.1389+1G>A	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 2675982	NM_000183.3(HADHB):c.1389+5G>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 567720	NM_000183.3(HADHB):c.1390-2A>G	HADHB	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency 1 +2 more	GConflicting classifications of pathogenicity

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Items: 50