"Baylor Genetics"[submitter] AND "MCCC2"[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676494	NM_022132.5(MCCC2):c.70del (p.His24fs)	MCCC2 (H24fs)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676474	NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)	MCCC2 (Q34*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 1323271	NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	MCCC2 (Q43*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676479	NM_022132.5(MCCC2):c.130-2A>G	MCCC2	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 948935	NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)	MCCC2 (R59*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 1951224	NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)	MCCC2 (K64*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 286933	NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)	MCCC2 (R72*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1419078	NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)	MCCC2 (S77*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676486	NM_022132.5(MCCC2):c.281+1del	MCCC2	Deletion (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676484	NM_022132.5(MCCC2):c.281+2T>C	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1487464	NM_022132.5(MCCC2):c.281+5G>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GLikely pathogenic
Select item 1920	NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	MCCC2 (E99Q)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1324701	NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)	MCCC2 (S101F)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 1324702	NM_022132.5(MCCC2):c.351_353del (p.Gly118del)	MCCC2 (G118del)	Deletion (inframe_deletion)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 1474479	NM_022132.5(MCCC2):c.383+2del	MCCC2	Deletion (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1520993	NM_022132.5(MCCC2):c.384-2A>G	MCCC2	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676477	NM_022132.5(MCCC2):c.437dup (p.Tyr146Ter)	MCCC2 (Y146*)	Duplication (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 566363	NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	MCCC2 (R155W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1921	NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	MCCC2 (R155Q)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 1923	NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	MCCC2 (C167R)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 2676483	NM_022132.5(MCCC2):c.511+2_511+3delinsGG	MCCC2	Indel (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 938097	NM_022132.5(MCCC2):c.512-1G>A	MCCC2	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 1919	NM_022132.5(MCCC2):c.517dup (p.Ser173fs)	MCCC2 (S173fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 203803	NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)	MCCC2 (S173L)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676480	NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter)	MCCC2 (Y177*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 488740	NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)	MCCC2 (R180*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GPathogenic
Select item 841748	NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)	MCCC2 (R188*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 198252	NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)	MCCC2 (H190Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203804	NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)	MCCC2 (R193C)	Single nucleotide variant (missense variant)	Methylcrotonyl-CoA carboxylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 950084	NM_022132.5(MCCC2):c.578G>A (p.Arg193His)	MCCC2 (R193H)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 649288	NM_022132.5(MCCC2):c.581del (p.Thr194fs)	MCCC2 (T194fs)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676475	NM_022132.5(MCCC2):c.588T>A (p.Tyr196Ter)	MCCC2 (Y196*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1098284	NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)	MCCC2 (Q198*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 167278	NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)	MCCC2 (I200N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2676473	NM_022132.5(MCCC2):c.608del (p.Ser203fs)	MCCC2 (S203fs)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 650003	NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)	MCCC2 (G214A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 286932	NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	MCCC2 (A218T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 575151	NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)	MCCC2 (A218V)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1453800	NM_022132.5(MCCC2):c.689del (p.Asn230fs)	MCCC2 (N230fs)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 577397	NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)	MCCC2 (N230D)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1521022	NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe)	MCCC2 (I231F)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 582906	NM_022132.5(MCCC2):c.735dup (p.Val247fs)	MCCC2 (V247fs)	Duplication (intron variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 1521913	NM_022132.5(MCCC2):c.739-2A>G	MCCC2	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 934991	NM_022132.5(MCCC2):c.739del	MCCC2	Deletion (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676493	NM_022132.5(MCCC2):c.759_760delinsC (p.Glu253fs)	MCCC2 (E215fs +1 more)	Indel (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2418694	NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)	MCCC2 (E216* +1 more)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676489	NM_022132.5(MCCC2):c.803+1G>A	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676495	NM_022132.5(MCCC2):c.803+2T>C	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676498	NM_022132.5(MCCC2):c.826del (p.Trp276fs)	MCCC2 (W238fs +1 more)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1927	NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)	MCCC2 (D280Y +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676487	NM_022132.5(MCCC2):c.920dup (p.Ser307_Glu308insTer)	MCCC2	Duplication (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1922	NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	MCCC2 (P310R +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676482	NM_022132.5(MCCC2):c.953A>G (p.Tyr318Cys)	MCCC2 (Y280C +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1032131	NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)	MCCC2 (G319R +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 2676499	NM_022132.5(MCCC2):c.990_996dup (p.Glu333fs)	MCCC2 (E295fs +1 more)	Duplication (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 167279	NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	MCCC2 (R332* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1506282	NM_022132.5(MCCC2):c.1000-2A>G	MCCC2	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 203805	NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	MCCC2 (V339M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1521043	NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)	MCCC2 (G352R +1 more)	Single nucleotide variant (missense variant)	Methylcrotonyl-CoA carboxylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 958438	NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)	MCCC2 (L355* +1 more)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 203806	NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	MCCC2 (L355F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2676485	NM_022132.5(MCCC2):c.1073-12C>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 194114	NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)	MCCC2 (R361* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1402549	NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)	MCCC2	Inversion (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 1067700	NM_022132.5(MCCC2):c.1149+1G>A	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676492	NM_022132.5(MCCC2):c.1150-2A>G	MCCC2	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2196635	NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)	MCCC2 (N403T +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 2676490	NM_022132.5(MCCC2):c.1216+1G>T	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676488	NM_022132.5(MCCC2):c.1216+1G>A	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 982869	NM_022132.5(MCCC2):c.1216+2T>A	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic/Likely pathogenic
Select item 535829	NM_022132.5(MCCC2):c.1216+2T>C	MCCC2	Single nucleotide variant (splice donor variant)	Methylcrotonyl-CoA carboxylase deficiency +1 more	GLikely pathogenic
Select item 1925	NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	MCCC2 (I437V +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 1471664	NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)	MCCC2 (G410R +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 2676476	NM_022132.5(MCCC2):c.1375C>T (p.Pro459Ser)	MCCC2 (P421S +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676491	NM_022132.5(MCCC2):c.1378dup (p.Arg460fs)	MCCC2 (R422fs +1 more)	Duplication (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676496	NM_022132.5(MCCC2):c.1378A>T (p.Arg460Ter)	MCCC2 (R422* +1 more)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 595072	NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)	MCCC2 (S433fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 467803	NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	MCCC2 (G475R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 194556	NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)	MCCC2 (V481M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1055857	NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)	MCCC2 (Q458H +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity
Select item 1708798	NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)	MCCC2 (S460F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032130	NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn)	MCCC2 (D501N +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2676478	NM_022132.5(MCCC2):c.1559A>G (p.Tyr520Cys)	MCCC2 (Y482C +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1705095	NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)	MCCC2 (A486T +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1067697	NM_022132.5(MCCC2):c.1574+1G>T	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2676500	NM_022132.5(MCCC2):c.1581G>A (p.Trp527Ter)	MCCC2 (W489* +1 more)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 535825	NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)	MCCC2 (S508* +1 more)	Duplication (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GConflicting classifications of pathogenicity

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Items: 87