C1969443[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495727	NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)	GAREM2, HADHA (F744fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 194917	NM_000182.5(HADHA):c.2146+1G>A	HADHA, GAREM2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 8733	NM_000182.5(HADHA):c.2132dup (p.Pro712fs)	GAREM2, HADHA (P712fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
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 1065948	NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)	GAREM2, HADHA (R676C)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2048816	NM_000182.5(HADHA):c.2020dup (p.Gln674fs)	GAREM2, HADHA (Q674fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 189089	NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)	GAREM2, HADHA (L661fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 2927833	NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)	GAREM2, HADHA (Y639*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1912385	NM_000182.5(HADHA):c.1893del (p.Lys631fs)	GAREM2, HADHA (K631fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1725512	NM_000182.5(HADHA):c.1844dup (p.Asn615fs)	GAREM2, HADHA (N615fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely 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 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 845656	NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)	GAREM2, HADHA (L574fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 550418	NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)	GAREM2, HADHA (L571P)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2954233	NM_000182.5(HADHA):c.1689+2T>C	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 801655	NM_000182.5(HADHA):c.1689+2T>G	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 8732	NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)	GAREM2, HADHA (R560*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 651987	NM_000182.5(HADHA):c.1644del (p.Arg549fs)	GAREM2, HADHA (R549fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2675963	NM_000182.5(HADHA):c.1549del (p.Thr517fs)	HADHA, GAREM2 (T517fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 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 1726239	NM_000182.5(HADHA):c.1432del (p.Ala478fs)	GAREM2, HADHA (A478fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 370401	NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)	GAREM2, HADHA (K413*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
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 1029697	NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)	GAREM2, HADHA (A392T)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 370400	NM_000182.5(HADHA):c.1086-3_1092del	GAREM2, HADHA	Deletion (splice acceptor variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2035761	NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)	HADHA (Y343*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 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 8737	NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)	HADHA (R291*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic
Select item 188987	NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)	HADHA (R235W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2947730	NM_000182.5(HADHA):c.677-2A>G	HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 835948	NM_000182.5(HADHA):c.574-2A>G	HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1373566	NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)	HADHA (Q186*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 554431	NM_000182.5(HADHA):c.315-1G>A	HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2675966	NM_000182.5(HADHA):c.315-2A>T	HADHA	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2675978	NM_000182.5(HADHA):c.314+1G>C	HADHA	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 189105	NM_000182.5(HADHA):c.274_278del (p.Ser92fs)	HADHA (S92fs)	Deletion (frameshift variant)	HADHA-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 8731	NM_000182.5(HADHA):c.180+3A>G	HADHA	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 8730	NM_000182.5(HADHA):c.180+1G>A	HADHA	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2120942	NM_000182.5(HADHA):c.160del (p.Ile54fs)	HADHA (I54fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 92594	NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)	HADHA (R53*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic
Select item 552755	NM_000182.5(HADHA):c.129dup (p.Gly44fs)	HADHA (G44fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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: 91