"GeneDx"[submitter] AND "HADHA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 335371	NM_000182.5(HADHA):c.*302G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 335372	NM_000182.5(HADHA):c.*202G>A	GAREM2, HADHA	Single nucleotide variant (3 prime UTR variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 2157872	NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)	GAREM2, HADHA (R732W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1212995	NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu)	GAREM2, HADHA (D731E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 512927	NM_000182.5(HADHA):c.2175C>T (p.Gly725=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 514920	NM_000182.5(HADHA):c.2147-17C>T	HADHA, GAREM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 512562	NM_000182.5(HADHA):c.2147-19G>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +2 more	GLikely benign
Select item 1198680	NM_000182.5(HADHA):c.2146+18G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 203740	NM_000182.5(HADHA):c.2146+16T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 516937	NM_000182.5(HADHA):c.2133G>A (p.Pro711=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1202151	NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)	GAREM2, HADHA (P711T)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +4 more	GUncertain significance
Select item 449719	NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)	GAREM2, HADHA (V705D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 429439	NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)	GAREM2, HADHA (G703R)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 948895	NM_000182.5(HADHA):c.2027G>A (p.Arg676His)	GAREM2, HADHA (R676H)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1118770	NM_000182.5(HADHA):c.2010C>T (p.Asp670=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GLikely benign
Select item 1215248	NM_000182.5(HADHA):c.2001-138G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680602	NM_000182.5(HADHA):c.2000+332T>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668557	NM_000182.5(HADHA):c.2000+290G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213238	NM_000182.5(HADHA):c.2000+181T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201579	NM_000182.5(HADHA):c.2000+148T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292061	NM_000182.5(HADHA):c.2000+76dup	GAREM2, HADHA	Duplication (intron variant)	not provided	GBenign
Select item 1294382	NM_000182.5(HADHA):c.2000+90del	GAREM2, HADHA	Deletion (intron variant)	not provided	GBenign
Select item 1294380	NM_000182.5(HADHA):c.2000+86T>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236689	NM_000182.5(HADHA):c.2000+71T>G	HADHA, GAREM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92595	NM_000182.5(HADHA):c.1981C>T (p.Leu661=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GBenign/Likely benign
Select item 188712	NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)	HADHA, GAREM2	Deletion (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 203745	NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)	GAREM2, HADHA (E641fs)	Duplication (frameshift variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 1193984	NM_000182.5(HADHA):c.1892A>T (p.Lys631Ile)	GAREM2, HADHA (K631I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386925	NM_000182.5(HADHA):c.1886-8T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GLikely benign
Select item 510598	NM_000182.5(HADHA):c.1886-16T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GLikely benign
Select item 1270452	NM_000182.5(HADHA):c.1886-134C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676137	NM_000182.5(HADHA):c.1886-136T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226391	NM_000182.5(HADHA):c.1885+289C>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274293	NM_000182.5(HADHA):c.1885+265_1885+267dup	GAREM2, HADHA	Duplication (intron variant)	not provided	GBenign
Select item 1243162	NM_000182.5(HADHA):c.1885+265_1885+266dup	GAREM2, HADHA	Duplication (intron variant)	not provided	GBenign
Select item 1186472	NM_000182.5(HADHA):c.1885+265dup	HADHA, GAREM2	Duplication (intron variant)	not provided	GLikely benign
Select item 676135	NM_000182.5(HADHA):c.1885+145T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429373	NM_000182.5(HADHA):c.1885G>A (p.Gly629Ser)	GAREM2, HADHA (G629S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 449769	NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)	GAREM2, HADHA (N615D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1195135	NM_000182.5(HADHA):c.1823G>C (p.Gly608Ala)	GAREM2, HADHA (G608A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504151	NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs)	GAREM2, HADHA (K605fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 370726	NM_000182.5(HADHA):c.1811del (p.Gly604fs)	GAREM2, HADHA (G604fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 515738	NM_000182.5(HADHA):c.1800G>A (p.Ala600=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1308843	NM_000182.5(HADHA):c.1799C>T (p.Ala600Val)	GAREM2, HADHA (A600V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 188962	NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	HADHA, GAREM2 (H598fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 389019	NM_000182.5(HADHA):c.1788G>A (p.Ala596=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 370079	NM_000182.5(HADHA):c.1690-2A>G	GAREM2, HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 203739	NM_000182.5(HADHA):c.1690-6G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +3 more	GBenign
Select item 335378	NM_000182.5(HADHA):c.1690-13G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 389014	NM_000182.5(HADHA):c.1690-18G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 679656	NM_000182.5(HADHA):c.1690-221C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281329	NM_000182.5(HADHA):c.1690-259C>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 203747	NM_000182.5(HADHA):c.1668_1674dup (p.Ile559Ter)	HADHA, GAREM2 (I559*)	Duplication (nonsense)	not provided	GPathogenic
Select item 429528	NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)	GAREM2, HADHA (Y546C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 387142	NM_000182.5(HADHA):c.1621-19A>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 676286	NM_000182.5(HADHA):c.1620+132C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420631	NM_000182.5(HADHA):c.1620+20_1620+21del	GAREM2, HADHA	Microsatellite (intron variant)	not specified +2 more	GLikely benign
Select item 137531	NM_000182.5(HADHA):c.1620+11G>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GBenign/Likely benign
Select item 509276	NM_000182.5(HADHA):c.1620+9C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 618671	NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys)	GAREM2, HADHA (E515K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100085	NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	GAREM2, HADHA (E510Q)	Single nucleotide variant (missense variant)	HADHA-related disorder +5 more	GPathogenic
Select item 1311079	NM_000182.5(HADHA):c.1508T>G (p.Val503Gly)	GAREM2, HADHA (V503G)	Single nucleotide variant (missense variant)	HADHA-related disorder +1 more	GUncertain significance
Select item 386060	NM_000182.5(HADHA):c.1488C>T (p.Gly496=)	HADHA, GAREM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 495725	NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)	GAREM2, HADHA (K489E)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 393282	NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)	GAREM2, HADHA (A485S)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GUncertain significance
Select item 432660	NM_000182.5(HADHA):c.1427_1428del (p.Thr476fs)	GAREM2, HADHA (T476fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1189449	NM_000182.5(HADHA):c.1393-24T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676133	NM_000182.5(HADHA):c.1393-62A>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1245428	NM_000182.5(HADHA):c.1393-139T>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681693	NM_000182.5(HADHA):c.1393-163C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679578	NM_000182.5(HADHA):c.1393-194G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676596	NM_000182.5(HADHA):c.1392+51_1392+52del	GAREM2, HADHA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 203738	NM_000182.5(HADHA):c.1392+10G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GBenign
Select item 507903	NM_000182.5(HADHA):c.1284C>T (p.Asn428=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 508406	NM_000182.5(HADHA):c.1248T>G (p.Ala416=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +2 more	GLikely benign
Select item 673764	NM_000182.5(HADHA):c.1221-195C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218434	NM_000182.5(HADHA):c.1220+329G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679658	NM_000182.5(HADHA):c.1220+206G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 335381	NM_000182.5(HADHA):c.1212G>C (p.Val404=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 449455	NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)	GAREM2, HADHA (R399*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1216147	NM_000182.5(HADHA):c.1184C>A (p.Thr395Asn)	GAREM2, HADHA (T395N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514281	NM_000182.5(HADHA):c.1153C>T (p.Leu385=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +2 more	GLikely benign
Select item 1191042	NM_000182.5(HADHA):c.1086-12C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +2 more	GLikely benign
Select item 1202793	NM_000182.5(HADHA):c.1085+282C>T	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 235806	NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)	HADHA (Q358K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1422942	NM_000182.5(HADHA):c.995T>G (p.Met332Arg)	HADHA (M332R)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +3 more	GUncertain significance
Select item 203744	NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)	HADHA (G328R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 203743	NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)	HADHA (G319S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 193564	NM_000182.5(HADHA):c.919-2A>G	HADHA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1193627	NM_000182.5(HADHA):c.919-165G>C	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209077	NM_000182.5(HADHA):c.918+82A>G	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213326	NM_000182.5(HADHA):c.918+57C>G	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 383913	NM_000182.5(HADHA):c.918+19T>C	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GLikely benign
Select item 1695860	NM_000182.5(HADHA):c.918+2T>A	HADHA	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 453019	NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)	HADHA (I305T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 8736	NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)	HADHA (I305N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 388882	NM_000182.5(HADHA):c.870G>A (p.Val290=)	HADHA	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 389724	NM_000182.5(HADHA):c.800-15C>T	HADHA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1202218	NM_000182.5(HADHA):c.799+153T>C	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign

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