MCCC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC132089284, LOC132089285 +1446 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	GTF2H2, GTF2H2C +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 684211	NM_022132.4(MCCC2):c.-336A>T	MCCC2	Single nucleotide variant	not provided	GBenign
Select item 684213	NM_022132.4(MCCC2):c.-303C>G	MCCC2	Single nucleotide variant	not provided	GBenign
Select item 1213286	NC_000005.10:g.71587242G>A	MCCC2	Single nucleotide variant	not provided	GLikely benign
Select item 1175310	NM_022132.5(MCCC2):c.-117A>G	MCCC2	Single nucleotide variant	not provided +1 more	GBenign
Select item 354100	NM_022132.5(MCCC2):c.-38G>A	MCCC2	Single nucleotide variant (5 prime UTR variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 378120	NM_022132.5(MCCC2):c.-20C>G	MCCC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3607013	NM_022132.5(MCCC2):c.1A>G (p.Met1Val)	MCCC2 (M1V)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 2871586	NM_022132.5(MCCC2):c.5_69del (p.Trp2fs)	MCCC2 (W2fs)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 167275	NM_022132.5(MCCC2):c.6G>C (p.Trp2Cys)	MCCC2 (W2C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002053	NM_022132.5(MCCC2):c.9C>A (p.Ala3=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1084854	NM_022132.5(MCCC2):c.13C>T (p.Leu5=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1638292	NM_022132.5(MCCC2):c.25C>T (p.Leu9=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3768172	NM_022132.5(MCCC2):c.28C>T (p.Arg10Trp)	MCCC2 (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809764	NM_022132.5(MCCC2):c.32C>T (p.Pro11Leu)	MCCC2 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125069	NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)	MCCC2 (A13G)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2008340	NM_022132.5(MCCC2):c.45C>T (p.Ala15=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1564261	NM_022132.5(MCCC2):c.51C>G (p.Pro17=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2093501	NM_022132.5(MCCC2):c.54C>T (p.Ala18=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 513584	NM_022132.5(MCCC2):c.54C>G (p.Ala18=)	MCCC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2097021	NM_022132.5(MCCC2):c.57G>C (p.Gly19=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 905569	NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)	MCCC2 (P20S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2012950	NM_022132.5(MCCC2):c.60G>C (p.Pro20=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2606004	NM_022132.5(MCCC2):c.61C>T (p.Arg21Cys)	MCCC2 (R21C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2711697	NM_022132.5(MCCC2):c.68A>G (p.Tyr23Cys)	MCCC2 (Y23C)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2150106	NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)	MCCC2 (Y23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2868871	NM_022132.5(MCCC2):c.69del (p.His24fs)	MCCC2 (H24fs)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 3676366	NM_022132.5(MCCC2):c.70C>G (p.His24Asp)	MCCC2 (H24D)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
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 1595650	NM_022132.5(MCCC2):c.72C>T (p.His24=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 522434	NM_022132.5(MCCC2):c.72C>G (p.His24Gln)	MCCC2 (H24Q)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 1076539	NM_022132.5(MCCC2):c.76_77del (p.Asp26fs)	MCCC2 (D26fs)	Deletion (frameshift variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GPathogenic
Select item 1135493	NM_022132.5(MCCC2):c.78C>T (p.Asp26=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1625551	NM_022132.5(MCCC2):c.90G>A (p.Ser30=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1151372	NM_022132.5(MCCC2):c.90G>C (p.Ser30=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 703562	NM_022132.5(MCCC2):c.90G>T (p.Ser30=)	MCCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2171208	NM_022132.5(MCCC2):c.96C>T (p.Gly32=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3544082	NM_022132.5(MCCC2):c.97A>G (p.Thr33Ala)	MCCC2 (T33A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1360360	NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile)	MCCC2 (T33I)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
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 1715224	NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)	MCCC2 (P35T)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2383892	NM_022132.5(MCCC2):c.104C>T (p.Pro35Leu)	MCCC2 (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1534073	NM_022132.5(MCCC2):c.105G>A (p.Pro35=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 3241904	NM_022132.5(MCCC2):c.110T>A (p.Leu37Ter)	MCCC2 (L37*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1096233	NM_022132.5(MCCC2):c.114C>T (p.Gly38=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 744310	NM_022132.5(MCCC2):c.114C>G (p.Gly38=)	MCCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 96028	NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe)	MCCC2 (S39F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2877944	NM_022132.5(MCCC2):c.117T>C (p.Ser39=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2968555	NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)	MCCC2 (L41R)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2160137	NM_022132.5(MCCC2):c.123C>T (p.Leu41=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 641167	NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)	MCCC2 (Y42C)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
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 661294	NM_022132.5(MCCC2):c.129G>A (p.Gln43=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 3241898	NM_022132.5(MCCC2):c.129+1G>A	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1483280	NM_022132.5(MCCC2):c.129+1G>T	MCCC2	Single nucleotide variant (splice donor variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 1013669	NM_022132.5(MCCC2):c.129+3A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely pathogenic
Select item 2822313	NM_022132.5(MCCC2):c.129+7T>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2737476	NM_022132.5(MCCC2):c.129+8G>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2810034	NM_022132.5(MCCC2):c.129+10G>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2730512	NM_022132.5(MCCC2):c.129+16C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2884249	NM_022132.5(MCCC2):c.129+17G>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1200020	NM_022132.5(MCCC2):c.129+146A>G	MCCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325923	NM_022132.5(MCCC2):c.130-72del	MCCC2	Deletion (intron variant)	not provided	GLikely benign
Select item 1195528	NM_022132.5(MCCC2):c.130-79T>C	MCCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001682	NM_022132.5(MCCC2):c.130-20C>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2745629	NM_022132.5(MCCC2):c.130-16T>C	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
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 933444	NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)	MCCC2 (Y46C)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 597111	NM_022132.5(MCCC2):c.142C>T (p.Gln48Ter)	MCCC2 (Q48*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3658300	NM_022132.5(MCCC2):c.145A>G (p.Met49Val)	MCCC2 (M49V)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 1362338	NM_022132.5(MCCC2):c.147G>C (p.Met49Ile)	MCCC2 (M49I)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 1953287	NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)	MCCC2 (A51V)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2745376	NM_022132.5(MCCC2):c.156A>G (p.Leu52=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 747591	NM_022132.5(MCCC2):c.162T>C (p.Asn54=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1982858	NM_022132.5(MCCC2):c.170A>G (p.His57Arg)	MCCC2 (H57R)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 2880711	NM_022132.5(MCCC2):c.175C>A (p.Arg59=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
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 1707502	NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)	MCCC2 (R59Q)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 963404	NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)	MCCC2 (E61*)	Single nucleotide variant (nonsense)	Methylcrotonyl-CoA carboxylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2884874	NM_022132.5(MCCC2):c.183G>A (p.Glu61=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 939584	NM_022132.5(MCCC2):c.185A>G (p.His62Arg)	MCCC2 (H62R)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
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 991026	NM_022132.5(MCCC2):c.196+3A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GUncertain significance
Select item 3697540	NM_022132.5(MCCC2):c.196+11C>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2883032	NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA	MCCC2	Insertion (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2883033	NM_022132.5(MCCC2):c.196+19C>A	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1639078	NM_022132.5(MCCC2):c.196+20C>T	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1191800	NM_022132.5(MCCC2):c.196+113dup	MCCC2	Duplication (intron variant)	not provided	GLikely benign
Select item 1261839	NM_022132.5(MCCC2):c.196+98_196+99insA	MCCC2	Insertion (intron variant)	not provided	GBenign
Select item 1187404	NM_022132.5(MCCC2):c.196+113del	MCCC2	Deletion (intron variant)	not provided	GLikely benign
Select item 1187292	NM_022132.5(MCCC2):c.196+100T>A	MCCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290798	NM_022132.5(MCCC2):c.197-192dup	MCCC2	Duplication (intron variant)	not provided	GBenign
Select item 1298145	NM_022132.5(MCCC2):c.197-75_197-69del	MCCC2	Deletion (intron variant)	not provided	GBenign
Select item 1479983	NM_022132.5(MCCC2):c.197-9C>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2026553	NM_022132.5(MCCC2):c.197-7A>G	MCCC2	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 1147727	NM_022132.5(MCCC2):c.210A>G (p.Lys70=)	MCCC2	Single nucleotide variant (synonymous variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency	GLikely benign
Select item 2629394	NM_022132.5(MCCC2):c.214C>G (p.Arg72Gly)	MCCC2 (R72G)	Single nucleotide variant (missense variant)	MCCC2-related disorder	GUncertain significance
Select item 286933	NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)	MCCC2 (R72*)	Single nucleotide variant (nonsense)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GPathogenic/Likely pathogenic

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