"Baylor Genetics"[submitter] AND "HADH"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675958	NM_005327.7(HADH):c.130C>T (p.Gln44Ter)	HADH (Q44*)	Single nucleotide variant (nonsense)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 2675956	NM_005327.7(HADH):c.262-2A>G	HADH	Single nucleotide variant (splice acceptor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 652881	NM_005327.7(HADH):c.349G>C (p.Val117Leu)	HADH (V117L +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +3 more	GUncertain significance
Select item 2675961	NM_005327.7(HADH):c.419+1G>A	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2675959	NM_005327.7(HADH):c.419+1G>C	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 2675957	NM_005327.7(HADH):c.424dup (p.Thr142fs)	HADH (T142fs +1 more)	Duplication (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 802083	NM_005327.7(HADH):c.587del (p.Ser196fs)	HADH (S200fs +1 more)	Deletion (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic/Likely risk allele
Select item 212734	NM_005327.7(HADH):c.676T>C (p.Tyr226His)	HADH (Y226H +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 39482	NM_005327.7(HADH):c.706C>T (p.Arg236Ter)	HADH (R236* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2675960	NM_005327.7(HADH):c.709+2T>C	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 1312503	NM_005327.7(HADH):c.907G>A (p.Gly303Ser)	HADH (G303S +2 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more	GUncertain significance