C0342783[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552667	NM_000017.4(ACADS):c.1A>G (p.Met1Val)	ACADS (M1V)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 553547	NM_000017.4(ACADS):c.29_35dup (p.Ala13fs)	ACADS (A13fs)	Duplication (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 371051	NM_000017.4(ACADS):c.32del (p.Gly11fs)	ACADS (G11fs)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 550915	NM_000017.4(ACADS):c.47-6C>A	ACADS	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 550479	NM_000017.4(ACADS):c.107dup (p.Thr37fs)	ACADS (T37fs)	Duplication (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 370741	NM_000017.4(ACADS):c.125_135del (p.Leu42fs)	ACADS (L42fs)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic/Likely pathogenic
Select item 3825	NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	ACADS (R46W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30611	NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)	ACADS (P55L)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic/Likely pathogenic
Select item 370534	NM_000017.4(ACADS):c.211-1G>A	ACADS	Single nucleotide variant (splice acceptor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 553191	NM_000017.4(ACADS):c.277C>A (p.Leu93Ile)	ACADS (L93I)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3833	NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)	ACADS (E104del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 370300	NM_000017.4(ACADS):c.315del (p.Ser106fs)	ACADS (S106fs)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 30613	NM_000017.4(ACADS):c.323G>A (p.Gly108Asp)	ACADS (G108D)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 552519	NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)	ACADS	Deletion (inframe_indel)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 432099	NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)	ACADS (A110T)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 370525	NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter)	ACADS (Y123*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 189087	NM_000017.4(ACADS):c.409C>T (p.Gln137Ter)	ACADS (Q137*)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic/Likely pathogenic
Select item 370560	NM_000017.4(ACADS):c.417G>A (p.Trp139Ter)	ACADS (W139*)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 555418	NM_000017.4(ACADS):c.431C>T (p.Thr144Ile)	ACADS (T144I)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 550412	NM_000017.4(ACADS):c.460_461insAAC (p.Ala153_Leu154insGln)	ACADS	Insertion (inframe_insertion)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 558398	NM_000017.4(ACADS):c.463_465dup (p.Ser155dup)	ACADS	Duplication (inframe_insertion)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 370096	NM_000017.4(ACADS):c.473-2A>G	ACADS	Single nucleotide variant (splice acceptor variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 551228	NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)	ACADS (T169P)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 370891	NM_000017.4(ACADS):c.527C>A (p.Ser176Ter)	ACADS (S176*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 3828	NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	ACADS (W177R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 370685	NM_000017.4(ACADS):c.593_594del (p.Phe198fs)	ACADS (F198fs)	Deletion (frameshift variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 370372	NM_000017.4(ACADS):c.675dup (p.Lys226fs)	ACADS (K226fs +1 more)	Duplication (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 189093	NM_000017.4(ACADS):c.682_683del (p.Glu228fs)	ACADS (E224fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 549997	NM_000017.4(ACADS):c.682G>A (p.Glu228Lys)	ACADS (E228K +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 552250	NM_000017.4(ACADS):c.700C>T (p.Arg234Trp)	ACADS (R234W +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 377422	NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)	ACADS (R272C +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 203556	NM_000017.4(ACADS):c.815G>A (p.Arg272His)	ACADS (R272H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 280061	NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)	ACADS (G274S +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 550290	NM_000017.4(ACADS):c.826G>A (p.Ala276Thr)	ACADS (A276T +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 550463	NM_000017.4(ACADS):c.842G>C (p.Gly281Ala)	ACADS (G281A +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 370584	NM_000017.4(ACADS):c.910dup (p.Leu304fs)	ACADS (L300fs +1 more)	Duplication (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 557876	NM_000017.4(ACADS):c.945_953del (p.Asp316_Ala318del)	ACADS	Deletion (inframe_deletion)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 554062	NM_000017.4(ACADS):c.949_954dup (p.Met317_Ala318dup)	ACADS	Duplication (inframe_insertion)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 450631	NM_000017.4(ACADS):c.974G>A (p.Arg325Gln)	ACADS (R325Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 558138	NM_000017.4(ACADS):c.981_983del (p.Thr328del)	ACADS (T328del +1 more)	Deletion (inframe_deletion)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 203569	NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys)	ACADS (R326C +1 more)	Indel (missense variant)	Deficiency of butyryl-CoA dehydrogenase +2 more	GPathogenic/Likely pathogenic
Select item 203557	NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)	ACADS (R330C +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 557389	NM_000017.4(ACADS):c.989G>A (p.Arg330His)	ACADS (R330H +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 431801	NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His)	ACADS (R326H +1 more)	Indel (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557838	NM_000017.4(ACADS):c.991G>A (p.Ala331Thr)	ACADS (A331T +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 551883	NM_000017.4(ACADS):c.995C>T (p.Ala332Val)	ACADS (A332V +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 370627	NM_000017.4(ACADS):c.1029+1G>A	ACADS	Single nucleotide variant (splice donor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 558285	NM_000017.4(ACADS):c.1030-1G>A	ACADS	Single nucleotide variant (splice acceptor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 371289	NM_000017.4(ACADS):c.1031del (p.Glu344fs)	ACADS (E340fs +1 more)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 30612	NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	ACADS (E344G +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic/Likely pathogenic
Select item 432218	NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)	ACADS (A352T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203559	NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro)	ACADS (S353P +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3836	NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	ACADS (S353L +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 555291	NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr)	ACADS (A356T +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 370099	NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter)	ACADS (Q362* +1 more)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase	GPathogenic/Likely pathogenic
Select item 554099	NM_000017.4(ACADS):c.1086+1del	ACADS	Deletion (splice donor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 555304	NM_000017.4(ACADS):c.1086+1G>T	ACADS	Single nucleotide variant (splice donor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 552214	NM_000017.4(ACADS):c.1086+1G>A	ACADS	Single nucleotide variant (splice donor variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 203560	NM_000017.4(ACADS):c.1095G>T (p.Gln365His)	ACADS (Q365H +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 203563	NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)	ACADS (G371V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3837	NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	ACADS (R380W +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 557157	NM_000017.4(ACADS):c.1146C>A (p.Tyr382Ter)	ACADS (Y382* +1 more)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 3829	NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	ACADS (R383C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555426	NM_000017.4(ACADS):c.1148G>A (p.Arg383His)	ACADS (R383H +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 379779	NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser)	ACADS (A385S +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 203566	NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)	ACADS (R386C +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 370351	NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs)	ACADS (E389fs +1 more)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 551521	NM_000017.4(ACADS):c.1182del (p.Ser395fs)	ACADS (S391fs +1 more)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 377423	NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)	ACADS (Q398* +1 more)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 556422	NM_000017.4(ACADS):c.1213del (p.His405fs)	ACADS (H401fs +1 more)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 557652	NM_000017.4(ACADS):c.1231C>T (p.Arg411Trp)	ACADS (R411W +1 more)	Single nucleotide variant (missense variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance

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Items: 71