C3711645[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167180	NM_000191.3(HMGCL):c.698A>G (p.His233Arg)	HMGCL (H233R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 521753	NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)	HMGCL (S169fs)	Microsatellite (frameshift variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 11957	NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	HMGCL (R41Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 553933	NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	HMGCL (R41*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic/Likely pathogenic
Select item 521752	NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)	HMGCL (R11*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 557324	NM_000191.3(HMGCL):c.27del (p.Arg10fs)	HMGCL (R10fs)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 554666	NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)	GAREM2, HADHA (K760fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 555000	NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter)	GAREM2, HADHA (C747*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 554064	NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup)	GAREM2, HADHA	Duplication (inframe_insertion)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 553883	NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs)	GAREM2, HADHA (Q743fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 554919	NM_000182.5(HADHA):c.2222del (p.Gly741fs)	GAREM2, HADHA (G741fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 552556	NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter)	GAREM2, HADHA (Y740*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 370251	NM_000182.5(HADHA):c.2146+2T>C	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely 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 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 557112	NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly)	HADHA, GAREM2 (D701G)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 371259	NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter)	GAREM2, HADHA (E691*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 552748	NM_000182.5(HADHA):c.2059del (p.Met687fs)	HADHA, GAREM2 (M687fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 557152	NM_000182.5(HADHA):c.2026del (p.Arg676fs)	HADHA, GAREM2 (R676fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 554318	NM_000182.5(HADHA):c.2000+1G>C	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase 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 551505	NM_000182.5(HADHA):c.1959dup (p.Ser654Ter)	HADHA, GAREM2 (S654*)	Duplication (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 555525	NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis)	GAREM2, HADHA	Duplication (inframe_insertion)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 371597	NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)	GAREM2, HADHA (Y639fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 557166	NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)	GAREM2, HADHA (R610G)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 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 556847	NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del)	HADHA, GAREM2 (K570del)	Microsatellite (inframe_deletion)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
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 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 558276	NM_000182.5(HADHA):c.1620+2_1620+6del	GAREM2, HADHA	Microsatellite (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371082	NM_000182.5(HADHA):c.1590del (p.Lys531fs)	GAREM2, HADHA (K531fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 555246	NM_000182.5(HADHA):c.1493A>G (p.His498Arg)	HADHA, GAREM2 (H498R)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 552402	NM_000182.5(HADHA):c.1479+1G>T	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 370742	NM_000182.5(HADHA):c.1344_1345del (p.Val448_Phe449insTer)	GAREM2, HADHA	Microsatellite (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely 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 370098	NM_000182.5(HADHA):c.1221-1G>C	GAREM2, HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 555248	NM_000182.5(HADHA):c.1220+2_1220+5dup	HADHA, GAREM2	Duplication (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 371204	NM_000182.5(HADHA):c.1202del (p.Gln401fs)	GAREM2, HADHA (Q401fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely 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 8729	NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)	GAREM2, HADHA (Q378*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
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 370523	NM_000182.5(HADHA):c.1052del (p.Lys351fs)	HADHA (K351fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 555376	NM_000182.5(HADHA):c.975G>A (p.Gln325=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +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 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 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 551571	NM_000182.5(HADHA):c.844_845insA (p.Val282fs)	HADHA (V282fs)	Insertion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 556957	NM_000182.5(HADHA):c.800-1_801del	HADHA	Deletion (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 550378	NM_000182.5(HADHA):c.800-1G>T	HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
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 558129	NM_000182.5(HADHA):c.677-1G>A	HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 554181	NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup)	HADHA	Duplication (inframe_insertion)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 554587	NM_000182.5(HADHA):c.574-4dup	HADHA	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 371450	NM_000182.5(HADHA):c.515del (p.Pro172fs)	HADHA (P172fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 370347	NM_000182.5(HADHA):c.453+1G>A	HADHA	Single nucleotide variant (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 197642	NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)	HADHA (K135E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 370220	NM_000182.5(HADHA):c.240G>A (p.Trp80Ter)	HADHA (W80*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely 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 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 552438	NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)	HADHA	Deletion (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 556688	NM_000182.5(HADHA):c.64C>T (p.Arg22Ter)	HADHA (R22*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 555013	NM_000182.5(HADHA):c.2TGG[1] (p.Val2del)	HADHA (V2del)	Microsatellite (inframe_deletion +1 more)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 553089	NM_000182.5(HADHA):c.3G>A (p.Met1Ile)	HADHA (M1I)	Single nucleotide variant (missense variant +1 more)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 371639	NM_000182.5(HADHA):c.1A>G (p.Met1Val)	HADHA (M1V)	Single nucleotide variant (missense variant +1 more)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic

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Items: 75