"GeneDx"[submitter] AND "HADH"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 1296710	NC_000004.12:g.107989685C>A	HADH, LOC129992931	Single nucleotide variant	not provided	GBenign
Select item 347123	NM_005327.4(HADH):c.-193G>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GBenign/Likely benign
Select item 347127	NM_005327.4(HADH):c.-65G>A	HADH, LOC129992931	Single nucleotide variant	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +3 more	GBenign/Likely benign
Select item 347129	NM_005327.7(HADH):c.-38T>C	HADH	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 4 +3 more	GBenign/Likely benign
Select item 1210652	NM_005327.7(HADH):c.132+89A>G	HADH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283935	NM_005327.7(HADH):c.133-304A>G	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 902148	NM_005327.7(HADH):c.133-15C>T	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia +3 more	GConflicting classifications of pathogenicity
Select item 1085093	NM_005327.7(HADH):c.144A>C (p.Ala48=)	HADH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1177687	NM_005327.7(HADH):c.261+107dup	HADH	Duplication (intron variant)	not provided	GBenign
Select item 1218225	NM_005327.7(HADH):c.261+135C>T	HADH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216357	NM_005327.7(HADH):c.261+161A>G	HADH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207904	NM_005327.7(HADH):c.262-34G>A	HADH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 211126	NM_005327.7(HADH):c.275T>G (p.Phe92Cys)	HADH (F92C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 432053	NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)	HADH (K129fs +1 more)	Insertion (frameshift variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 1251271	NM_005327.7(HADH):c.419+21C>A	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290886	NM_005327.7(HADH):c.419+26T>C	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220305	NM_005327.7(HADH):c.419+57T>A	HADH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291806	NM_005327.7(HADH):c.419+127G>A	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178561	NM_005327.7(HADH):c.419+226C>G	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 211127	NM_005327.7(HADH):c.456G>T (p.Gln152His)	HADH (Q152H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1273123	NM_005327.7(HADH):c.547-51C>T	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257611	NM_005327.7(HADH):c.636+13G>A	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 1 +4 more	GBenign/Likely benign
Select item 1269880	NM_005327.7(HADH):c.636+102C>T	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267339	NM_005327.7(HADH):c.636+127A>G	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194770	NM_005327.7(HADH):c.636+315A>G	HADH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263539	NM_005327.7(HADH):c.636+351C>A	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279664	NM_005327.7(HADH):c.636+385A>G	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1404529	NM_005327.7(HADH):c.643C>T (p.Pro215Ser)	HADH (P215S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 549514	NM_005327.7(HADH):c.643C>A (p.Pro215Thr)	HADH (P215T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +5 more	GConflicting classifications of pathogenicity
Select item 393392	NM_005327.7(HADH):c.662G>A (p.Arg221His)	HADH (R221H +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 1242046	NM_005327.7(HADH):c.710-1045_710-1041del	HADH	Microsatellite (intron variant)	not provided	GBenign
Select item 1286396	NM_005327.7(HADH):c.710-656T>A	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258200	NM_005327.7(HADH):c.710-319C>G	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263400	NM_005327.7(HADH):c.710-262G>A	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257498	NM_005327.7(HADH):c.710-240T>C	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1434316	NM_005327.7(HADH):c.715G>T (p.Ala239Ser)	HADH (A239S +2 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +1 more	GUncertain significance
Select item 1284134	NM_005327.7(HADH):c.827-275G>T	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245222	NM_005327.7(HADH):c.827-245C>T	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 393393	NM_005327.7(HADH):c.881A>G (p.Asn294Ser)	HADH (N294S +2 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +5 more	GConflicting classifications of pathogenicity
Select item 647412	NM_005327.7(HADH):c.908G>T (p.Gly303Val)	HADH (G303V +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 347137	NM_005327.7(HADH):c.*109T>A	HADH	Single nucleotide variant (3 prime UTR variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +3 more	GBenign/Likely benign
Select item 3361159	NM_005327.7(HADH):c.268G>A (p.Asp90Asn)	HADH (D90N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 44