"Illumina Laboratory Services, Illumina"[submitter] AND "HADHB"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335392	NM_000183.2(HADHB):c.-235delT	HADHB	Deletion	Mitochondrial trifunctional protein deficiency	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 335394	NM_000183.2(HADHB):c.-202G>A	HADHB	Single nucleotide variant	Mitochondrial trifunctional protein deficiency	GUncertain significance
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 335397	NM_000183.2(HADHB):c.-176G>T	HADHB	Single nucleotide variant	HADHB-related condition +1 more	GConflicting classifications of pathogenicity
Select item 335398	NM_000183.2(HADHB):c.-173T>C	HADHA, HADHB	Single nucleotide variant	HADHA-related condition +1 more	GConflicting classifications of pathogenicity
Select item 335399	NM_000183.2(HADHB):c.-124C>G	HADHA, HADHB	Single nucleotide variant	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 895923	NM_000183.3(HADHB):c.-53C>T	HADHB	Single nucleotide variant (5 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335400	NM_000183.3(HADHB):c.-9+11G>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 92600	NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)	HADHB	Duplication (inframe_insertion +1 more)	not specified +1 more	GBenign
Select item 335401	NM_000183.3(HADHB):c.64+11T>C	HADHB	Single nucleotide variant (intron variant)	HADHB-related condition +2 more	GBenign/Likely benign
Select item 896201	NM_000183.3(HADHB):c.64+15A>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GConflicting classifications of pathogenicity
Select item 335402	NM_000183.3(HADHB):c.135G>A (p.Thr45=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GBenign/Likely benign
Select item 335403	NM_000183.3(HADHB):c.210-5C>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 92599	NM_000183.3(HADHB):c.246A>G (p.Ala82=)	HADHB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 235337	NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	HADHB (T133A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897804	NM_000183.3(HADHB):c.443-10T>C	HADHB	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 335405	NM_000183.3(HADHB):c.560A>G (p.Asn187Ser)	HADHB (N187S +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 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 897805	NM_000183.3(HADHB):c.635C>T (p.Pro212Leu)	HADHB (P197L +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 897806	NM_000183.3(HADHB):c.640G>A (p.Val214Ile)	HADHB (V199I +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335406	NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)	HADHB (R238W +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency 2 +1 more	GConflicting classifications of pathogenicity
Select item 203748	NM_000183.3(HADHB):c.780C>T (p.Leu260=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency 2 +2 more	GBenign
Select item 203749	NM_000183.3(HADHB):c.812-5A>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency 2 +2 more	GBenign
Select item 335407	NM_000183.3(HADHB):c.825T>C (p.Val275=)	HADHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 203750	NM_000183.3(HADHB):c.830A>G (p.Lys277Arg)	HADHB (K277R +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency 2 +2 more	GBenign/Likely benign
Select item 632355	NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)	HADHB (P294R +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203751	NM_000183.3(HADHB):c.891C>T (p.Ile297=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency 2 +2 more	GBenign
Select item 509470	NM_000183.3(HADHB):c.900C>T (p.Tyr300=)	HADHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137532	NM_000183.3(HADHB):c.966G>A (p.Ala322=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency 2 +2 more	GBenign
Select item 898960	NM_000183.3(HADHB):c.994A>G (p.Lys332Glu)	HADHB (K310E +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 137533	NM_000183.3(HADHB):c.1014-14A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GBenign
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 92597	NM_000183.3(HADHB):c.1149+4A>T	HADHB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 703153	NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)	HADHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894830	NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp)	HADHB (R424W +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 894831	NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly)	HADHB (E448G +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335408	NM_000183.3(HADHB):c.1371G>A (p.Ala457=)	HADHB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 894832	NM_000183.3(HADHB):c.*43C>T	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335409	NM_000183.3(HADHB):c.*52A>G	HADHB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 335410	NM_000183.3(HADHB):c.*136G>C	HADHB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335411	NM_000183.3(HADHB):c.*196A>G	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 335412	NM_000183.3(HADHB):c.*241T>G	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335413	NM_000183.3(HADHB):c.*244T>G	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335414	NM_000183.3(HADHB):c.*268G>A	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335415	NM_000183.3(HADHB):c.*351C>G	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 335416	NM_000183.3(HADHB):c.*380A>G	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 335417	NM_000183.3(HADHB):c.*486G>A	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 896270	NM_000183.3(HADHB):c.*500G>A	HADHB	Single nucleotide variant (3 prime UTR variant)	Mitochondrial trifunctional protein deficiency	GLikely benign

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Items: 51