C0268600[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 660413	NM_020166.5(MCCC1):c.2088dup (p.Val697fs)	MCCC1 (V697fs +2 more)	Duplication (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 1934	NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)	MCCC1	Deletion (frameshift variant +1 more)	MCCC1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 2676446	NM_020166.5(MCCC1):c.2000_2001del (p.Lys667fs)	MCCC1 (K550fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 565711	NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)	MCCC1 (G648S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 503626	NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)	MCCC1 (E644* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GPathogenic
Select item 1370608	NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)	MCCC1 (Y636* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 2676471	NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)	MCCC1 (E511* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 2676462	NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter)	MCCC1 (G508* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676457	NM_020166.5(MCCC1):c.1869+1G>A	MCCC1	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 1456726	NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)	MCCC1	Deletion (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 2150073	NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)	MCCC1 (D485E +2 more)	Single nucleotide variant (missense variant +1 more)	MCCC1-related condition +1 more	GUncertain significance
Select item 2676459	NM_020166.5(MCCC1):c.1750_1756del (p.Gln584fs)	MCCC1 (Q467fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676466	NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)	MCCC1 (Q467* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 2676455	NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)	MCCC1 (Q460* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676463	NM_020166.5(MCCC1):c.1699_1703del (p.Val566_Thr567insTer)	MCCC1	Deletion (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676449	NM_020166.5(MCCC1):c.1682-1G>A	MCCC1	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 449385	NM_020166.5(MCCC1):c.1682-3A>G	MCCC1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2676469	NM_020166.5(MCCC1):c.1681+5G>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 542948	NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)	MCCC1 (N443fs +2 more)	Duplication (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GPathogenic
Select item 2676458	NM_020166.5(MCCC1):c.1669delinsAA (p.Asp557fs)	MCCC1 (D440fs +2 more)	Indel (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676454	NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs)	MCCC1 (K439fs +2 more)	Microsatellite (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676452	NM_020166.5(MCCC1):c.1630del (p.Arg544fs)	MCCC1 (R427fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 2676470	NM_020166.5(MCCC1):c.1605_1606del (p.Pro536fs)	MCCC1 (P419fs +2 more)	Microsatellite (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 1505606	NM_020166.5(MCCC1):c.1594+1G>A	MCCC1	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676447	NM_020166.5(MCCC1):c.1585C>T (p.Gln529Ter)	MCCC1 (Q412* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 649123	NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)	MCCC1 (A412T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2196988	NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)	MCCC1 (L406fs +2 more)	Duplication (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 167269	NM_020166.5(MCCC1):c.1526del (p.Cys509fs)	MCCC1 (C392fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2676448	NM_020166.5(MCCC1):c.1518del (p.Glu506fs)	MCCC1 (E389fs +2 more)	Deletion (non-coding transcript variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 873469	NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)	MCCC1 (Q495* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 2421141	NM_020166.5(MCCC1):c.1378-2A>G	MCCC1	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 203796	NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)	MCCC1 (R444H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 95940	NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)	MCCC1 (V439M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 664032	NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)	MCCC1 (I325M +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 476392	NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)	MCCC1 (Q305fs +2 more)	Duplication (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GPathogenic
Select item 488805	NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)	MCCC1 (R409* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 203798	NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)	MCCC1 (V281fs +2 more)	Microsatellite (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GPathogenic
Select item 1930	NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	MCCC1 (R385S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1411435	NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)	MCCC1 (L377fs +2 more)	Microsatellite (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 2676472	NM_020166.5(MCCC1):c.1114del (p.Gln372fs)	MCCC1 (Q255fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 193913	NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)	MCCC1 (Q372* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1458455	NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)	MCCC1 (W241* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 95938	NM_020166.5(MCCC1):c.1074del (p.Trp358fs)	MCCC1 (W249fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 265231	NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)	MCCC1 (S327* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1929	NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	MCCC1 (M325R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 488806	NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)	MCCC1 (Y315* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GPathogenic
Select item 1033931	NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)	MCCC1 (K191E +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 969739	NM_020166.5(MCCC1):c.872del (p.Ala291fs)	MCCC1 (A174fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 476401	NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)	MCCC1 (A291V +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2676453	NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)	MCCC1 (A172V +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 476400	NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)	MCCC1 (E288G +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203795	NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	MCCC1 (R281* +2 more)	Single nucleotide variant (nonsense +1 more)	MCCC1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 2676465	NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg)	MCCC1 (C159R +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676467	NM_020166.5(MCCC1):c.716_720del (p.Ser238_Phe239insTer)	MCCC1	Deletion (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676450	NM_020166.5(MCCC1):c.700_701del (p.Glu234fs)	MCCC1 (E117fs +2 more)	Microsatellite (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 523813	NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)	MCCC1 (E226* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 654147	NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)	MCCC1 (Q108* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 344312	NM_020166.5(MCCC1):c.640_641delGG	MCCC1	Deletion (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167273	NM_020166.5(MCCC1):c.640-1G>A	MCCC1	Single nucleotide variant (splice acceptor variant)	MCCC1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 198578	NM_020166.5(MCCC1):c.640-2A>G	MCCC1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1067048	NM_020166.5(MCCC1):c.639+5G>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 476398	NM_020166.5(MCCC1):c.639+2T>A	MCCC1	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 644715	NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)	MCCC1 (G95A +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 1972751	NM_020166.5(MCCC1):c.622del (p.Arg208fs)	MCCC1 (R208fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 654523	NM_020166.5(MCCC1):c.558del (p.Gln186fs)	MCCC1 (Q186fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +2 more	GPathogenic
Select item 2676451	NM_020166.5(MCCC1):c.548del (p.Gly183fs)	MCCC1 (G183fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 1458456	NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)	MCCC1 (G71V +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 1458008	NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)	MCCC1 (E179* +2 more)	Indel (non-coding transcript variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 2246326	NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)	MCCC1 (C129Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2676461	NM_020166.5(MCCC1):c.367C>T (p.Gln123Ter)	MCCC1 (Q123* +1 more)	Single nucleotide variant (synonymous variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2676468	NM_020166.5(MCCC1):c.341_344del (p.Ile114fs)	MCCC1 (F38fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 1069056	NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)	MCCC1 (Q105*)	Single nucleotide variant (synonymous variant +3 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 1438722	NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)	MCCC1 (Q104*)	Single nucleotide variant (synonymous variant +3 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 1029739	NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys)	MCCC1 (Q104K)	Single nucleotide variant (synonymous variant +3 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 2676460	NM_020166.5(MCCC1):c.210_211insT (p.Leu71fs)	MCCC1 (L71fs)	Insertion (frameshift variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 542949	NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)	MCCC1 (R66C)	Single nucleotide variant (missense variant +2 more)	Methylcrotonyl-CoA carboxylase deficiency +1 more	GLikely pathogenic
Select item 2676456	NM_020166.5(MCCC1):c.191_192del (p.Val64fs)	MCCC1 (V64fs)	Deletion (frameshift variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 476395	NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)	MCCC1 (G58fs)	Microsatellite (frameshift variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic/Likely pathogenic
Select item 167274	NM_020166.5(MCCC1):c.137-2A>G	MCCC1	Single nucleotide variant (intron variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 476393	NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)	MCCC1 (S13I +1 more)	Indel (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2676464	NM_020166.5(MCCC1):c.89+2_89+4del	MCCC1	Deletion (splice donor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 649749	NM_020166.5(MCCC1):c.89+1G>C	MCCC1	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GLikely pathogenic

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Items: 82