ACADSB[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 302

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878310	NM_001609.3(ACADSB):c.-109A>T	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299060	NM_001609.3(ACADSB):c.-102dup	ACADSB	Duplication	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GBenign/Likely benign
Select item 299061	NM_001609.3(ACADSB):c.-107G>A	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GBenign
Select item 299062	NM_001609.3(ACADSB):c.-102G>C	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299063	NM_001609.3(ACADSB):c.-97T>C	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GBenign
Select item 299064	NM_001609.3(ACADSB):c.-89G>T	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GBenign
Select item 299065	NM_001609.3(ACADSB):c.-87G>T	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GBenign
Select item 1678479	NC_000010.11:g.123008986G>T	ACADSB	Single nucleotide variant	not provided	GUncertain significance
Select item 299066	NM_001609.3(ACADSB):c.-39G>A	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 878311	NM_001609.3(ACADSB):c.-28G>T	ACADSB	Single nucleotide variant	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299067	NM_001609.4(ACADSB):c.-22A>G	ACADSB	Single nucleotide variant (5 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 878892	NM_001609.4(ACADSB):c.-19G>C	ACADSB	Single nucleotide variant (5 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2581200	NM_001609.4(ACADSB):c.1A>T (p.Met1Leu)	ACADSB (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2001202	NM_001609.4(ACADSB):c.6G>A (p.Glu2=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2195993	NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)	ACADSB (G3D)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2009469	NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)	ACADSB (G3A)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1348511	NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr)	ACADSB (A5T)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1037854	NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)	ACADSB (R7L)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299068	NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys)	ACADSB (R13K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 536347	NM_001609.4(ACADSB):c.42G>A (p.Leu14=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299069	NM_001609.4(ACADSB):c.42G>T (p.Leu14=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1249547	NM_001609.4(ACADSB):c.42+312G>C	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180240	NM_001609.4(ACADSB):c.43-275A>G	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258728	NM_001609.4(ACADSB):c.43-156dup	ACADSB	Duplication (intron variant)	not provided	GBenign
Select item 583673	NC_000010.11:g.(?_123034356)_(123041379_?)del	ACADSB	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 796631	NM_001609.4(ACADSB):c.45A>C (p.Leu15=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GBenign
Select item 3075976	NM_001609.4(ACADSB):c.68dup (p.Leu23fs)	ACADSB (L23fs)	Duplication (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 654197	NM_001609.4(ACADSB):c.67T>G (p.Leu23Val)	ACADSB (L23V)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 1897714	NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)	ACADSB (K27E)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299070	NM_001609.4(ACADSB):c.92A>G (p.His31Arg)	ACADSB (H31R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 299071	NM_001609.4(ACADSB):c.95T>A (p.Val32Asp)	ACADSB (V32D)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 947014	NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)	ACADSB (A52T)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1514895	NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)	ACADSB (P53S)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1124481	NM_001609.4(ACADSB):c.159C>T (p.Pro53=)	ACADSB	Single nucleotide variant (synonymous variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 299072	NM_001609.4(ACADSB):c.168A>G (p.Thr56=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	ACADSB-related disorder +2 more	GBenign
Select item 571020	NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly)	ACADSB (D59G)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1358968	NM_001609.4(ACADSB):c.202G>T (p.Val68Phe)	ACADSB (V68F)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2991398	NM_001609.4(ACADSB):c.202+1G>C	ACADSB	Single nucleotide variant (splice donor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2438811	NM_001609.4(ACADSB):c.202+3A>C	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1279965	NM_001609.4(ACADSB):c.202+298C>T	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264056	NM_001609.4(ACADSB):c.203-294C>A	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241409	NM_001609.4(ACADSB):c.203-273G>A	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 878893	NM_001609.4(ACADSB):c.219G>A (p.Gln73=)	ACADSB	Single nucleotide variant (synonymous variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 2438810	NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)	ACADSB (P78T)	Single nucleotide variant (missense variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 650689	NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu)	ACADSB (S87L)	Single nucleotide variant (missense variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1932616	NM_001609.4(ACADSB):c.261G>A (p.Ser87=)	ACADSB	Single nucleotide variant (synonymous variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1410042	NM_001609.4(ACADSB):c.265A>G (p.Met89Val)	ACADSB (M89V)	Single nucleotide variant (missense variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2153596	NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)	ACADSB (S92*)	Single nucleotide variant (nonsense +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 281177	NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	ACADSB (Q99*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203367	NM_001609.4(ACADSB):c.303+1G>A	ACADSB	Single nucleotide variant (splice donor variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
Select item 448980	NM_001609.4(ACADSB):c.303+3A>G	ACADSB	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 806580	NM_001609.4(ACADSB):c.303+5A>G	ACADSB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1267858	NM_001609.4(ACADSB):c.303+125A>C	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225774	NM_001609.4(ACADSB):c.303+144A>C	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244510	NM_001609.4(ACADSB):c.303+160G>A	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233452	NM_001609.4(ACADSB):c.304-265dup	ACADSB	Duplication (intron variant)	not provided	GBenign
Select item 1266744	NM_001609.4(ACADSB):c.304-265del	ACADSB	Deletion (intron variant)	not provided	GBenign
Select item 1247609	NM_001609.4(ACADSB):c.304-269_304-265del	ACADSB	Deletion (intron variant)	not provided	GBenign
Select item 1287541	NM_001609.4(ACADSB):c.304-109AAT[3]	ACADSB	Microsatellite (intron variant)	not provided	GBenign
Select item 574583	NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg)	ACADSB (G112R +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2754698	NM_001609.4(ACADSB):c.336A>G (p.Gly112=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2828858	NM_001609.4(ACADSB):c.356del (p.Leu119fs)	ACADSB (L119fs +1 more)	Deletion (frameshift variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 2185356	NM_001609.4(ACADSB):c.369C>T (p.Leu123=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2753617	NM_001609.4(ACADSB):c.370G>A (p.Val124Met)	ACADSB (V22M +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 664317	NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)	ACADSB (V124L +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 659271	NM_001609.4(ACADSB):c.375dup (p.Glu126fs)	ACADSB (E126fs +1 more)	Duplication (frameshift variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GPathogenic/Likely pathogenic
Select item 2635298	NM_001609.4(ACADSB):c.376G>C (p.Glu126Gln)	ACADSB (E126Q +1 more)	Single nucleotide variant (missense variant)	ACADSB-related disorder	GUncertain significance
Select item 1503544	NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu)	ACADSB (I39L +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1552010	NM_001609.4(ACADSB):c.426G>A (p.Gln142=)	ACADSB	Single nucleotide variant (synonymous variant)	ACADSB-related disorder +1 more	GLikely benign
Select item 299073	NM_001609.4(ACADSB):c.429C>T (p.Asn143=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2096944	NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)	ACADSB (I44F +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1521392	NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr)	ACADSB (N45Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 9202	NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	ACADSB (T148I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 702592	NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)	ACADSB (R49K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1678478	NM_001609.4(ACADSB):c.478del (p.Ala160fs)	ACADSB (A160fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 880118	NM_001609.4(ACADSB):c.496C>G (p.Leu166Val)	ACADSB (L166V +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1467643	NM_001609.4(ACADSB):c.510+13G>C	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1267384	NM_001609.4(ACADSB):c.511-262C>T	ACADSB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215713	NM_001609.4(ACADSB):c.511-206G>T	ACADSB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235109	NM_001609.4(ACADSB):c.511-164del	ACADSB	Deletion (intron variant)	not provided	GBenign
Select item 2731296	NM_001609.4(ACADSB):c.511-8A>G	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1132782	NM_001609.4(ACADSB):c.511-6A>G	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 880119	NM_001609.4(ACADSB):c.512T>G (p.Val171Gly)	ACADSB (V171G +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2914434	NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)	ACADSB (A79T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2698831	NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)	ACADSB (A181V +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299074	NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys)	ACADSB (G182C +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1134891	NM_001609.4(ACADSB):c.555A>G (p.Ser185=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 3030842	NM_001609.4(ACADSB):c.597T>C (p.Tyr199=)	ACADSB	Single nucleotide variant (synonymous variant)	ACADSB-related disorder	GLikely benign
Select item 1615808	NM_001609.4(ACADSB):c.603C>G (p.Leu201=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2244132	NM_001609.4(ACADSB):c.605A>G (p.Asn202Ser)	ACADSB (N100S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 299075	NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	ACADSB (W207* +1 more)	Single nucleotide variant (nonsense)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic/Likely pathogenic
Select item 299076	NM_001609.4(ACADSB):c.639C>T (p.His213=)	ACADSB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2154651	NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)	ACADSB (A112T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1029359	NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)	ACADSB (A112S +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 859736	NM_001609.4(ACADSB):c.653dup (p.Val219fs)	ACADSB (V117fs +1 more)	Duplication (frameshift variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic/Likely pathogenic
Select item 577108	NM_001609.4(ACADSB):c.655G>A (p.Val219Met)	ACADSB (V219M +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 1551347	NM_001609.4(ACADSB):c.669A>G (p.Val223=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 880120	NM_001609.4(ACADSB):c.675T>C (p.Pro225=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 1508199	NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr)	ACADSB (I125T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 299077	NM_001609.4(ACADSB):c.681+14C>T	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4