ClinVar for Gene (Select 56922) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246945	NC_000003.11:g.(?_182788836)_(182792878_?)del	MCCC1	Deletion	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 3246944	NC_000003.11:g.(?_182763181)_(182810353_?)dup	MCCC1	Duplication	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 3246943	NC_000003.11:g.(?_182751759)_(182770048_?)del	MCCC1	Deletion	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 3246942	NC_000003.11:g.(?_182743523)_(182743612_?)del	MCCC1	Deletion	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 3241896	NM_020166.5(MCCC1):c.2050-2A>C	MCCC1	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 3241895	NM_020166.5(MCCC1):c.823_824del (p.Asp275fs)	MCCC1 (D158fs +2 more)	Microsatellite (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 3241894	NM_020166.5(MCCC1):c.300del (p.Ala101fs)	MCCC1 (A101fs +1 more)	Deletion (frameshift variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 3241893	NM_020166.5(MCCC1):c.1898del (p.Val633fs)	MCCC1 (V516fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC126806887, LOC126806888 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3124201	NM_020166.5(MCCC1):c.986A>G (p.His329Arg)	MCCC1 (H220R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124200	NM_020166.5(MCCC1):c.808T>C (p.Tyr270His)	MCCC1 (Y161H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124198	NM_020166.5(MCCC1):c.1712A>T (p.Asp571Val)	MCCC1 (D571V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124197	NM_020166.5(MCCC1):c.1273G>C (p.Glu425Gln)	MCCC1 (E308Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065949	NM_020166.5(MCCC1):c.1289A>G (p.Tyr430Cys)	MCCC1 (Y313C +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3030881	NM_020166.5(MCCC1):c.1662T>C (p.Thr554=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	MCCC1-related disorder	GLikely benign
Select item 3023642	NM_020166.5(MCCC1):c.1681+13T>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3020765	NM_020166.5(MCCC1):c.1126del (p.Thr376fs)	MCCC1 (T267fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 3018908	NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3018282	NM_020166.5(MCCC1):c.813G>A (p.Leu271=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3017494	NM_020166.5(MCCC1):c.639+9G>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3017465	NM_020166.5(MCCC1):c.1594+9G>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3012569	NM_020166.5(MCCC1):c.138A>G (p.Gly46=)	MCCC1	Single nucleotide variant (synonymous variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3008638	NM_020166.5(MCCC1):c.1467C>T (p.Ile489=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3006016	NM_020166.5(MCCC1):c.492-16C>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3005466	NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3004418	NM_020166.5(MCCC1):c.874-13A>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3003093	NM_020166.5(MCCC1):c.136+8C>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 3001319	NM_020166.5(MCCC1):c.1428C>T (p.His476=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2999882	NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs)	MCCC1 (K88fs +2 more)	Duplication (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 2998598	NM_020166.5(MCCC1):c.274-20A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2988828	NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2987408	NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)	MCCC1 (V662F +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 2976912	NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)	MCCC1 (R57K)	Single nucleotide variant (intron variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 2976822	NM_020166.5(MCCC1):c.864G>A (p.Glu288=)	MCCC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2967611	NM_020166.5(MCCC1):c.699A>G (p.Arg233=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2955980	NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)	MCCC1 (E218* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 2954854	NM_020166.5(MCCC1):c.75G>A (p.Leu25=)	MCCC1	Single nucleotide variant (5 prime UTR variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2954783	NM_020166.5(MCCC1):c.1268-18C>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2919964	NM_020166.5(MCCC1):c.1594+12T>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2918061	NM_020166.5(MCCC1):c.12C>T (p.Ala4=)	LOC129938008, MCCC1	Single nucleotide variant (5 prime UTR variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2917754	NM_020166.5(MCCC1):c.1268-19C>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2917059	NM_020166.5(MCCC1):c.874-4A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2915992	NM_020166.5(MCCC1):c.273+1G>C	MCCC1	Single nucleotide variant (intron variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2913199	NM_020166.5(MCCC1):c.1977+13C>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2912317	NM_020166.5(MCCC1):c.873+17G>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2911686	NM_020166.5(MCCC1):c.264T>C (p.His88=)	MCCC1	Single nucleotide variant (synonymous variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2910947	NM_020166.5(MCCC1):c.136+18T>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2910884	NM_020166.5(MCCC1):c.639+16C>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2910589	NM_020166.5(MCCC1):c.1267+15A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2908217	NM_020166.5(MCCC1):c.1681+10G>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2907214	NM_020166.5(MCCC1):c.1587G>A (p.Gln529=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2907122	NM_020166.5(MCCC1):c.84G>A (p.Pro28=)	MCCC1	Single nucleotide variant (5 prime UTR variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2905573	NM_020166.5(MCCC1):c.1378-17del	MCCC1	Deletion (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GBenign
Select item 2902403	NM_020166.5(MCCC1):c.2163A>G (p.Lys721=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2901341	NM_020166.5(MCCC1):c.1682-16C>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2899923	NM_020166.5(MCCC1):c.874-15A>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2895689	NM_020166.5(MCCC1):c.1084-8A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2895621	NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2892376	NM_020166.5(MCCC1):c.285A>G (p.Ala95=)	MCCC1 (H19R)	Single nucleotide variant (missense variant +3 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2890388	NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)	MCCC1 (S499G +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 2889165	NM_020166.5(MCCC1):c.1452G>T (p.Val484=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2886765	NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT	MCCC1	Insertion (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2886507	NM_020166.5(MCCC1):c.89+16A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2884726	NM_020166.5(MCCC1):c.139A>C (p.Arg47=)	MCCC1	Single nucleotide variant (synonymous variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2883878	NM_020166.5(MCCC1):c.369+12G>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2881646	NM_020166.5(MCCC1):c.1084-6T>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2879345	NM_020166.5(MCCC1):c.258C>T (p.Ser86=)	MCCC1	Single nucleotide variant (synonymous variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2878431	NM_020166.5(MCCC1):c.90-1G>A	MCCC1	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2875722	NM_020166.5(MCCC1):c.137-18dup	MCCC1	Duplication (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2874684	NM_020166.5(MCCC1):c.2050-19C>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2867515	NM_020166.5(MCCC1):c.1848C>T (p.Asn616=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2865652	NM_020166.5(MCCC1):c.1133dup (p.His380fs)	MCCC1 (H380fs +2 more)	Duplication (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 2865646	NM_020166.5(MCCC1):c.960del (p.Val321fs)	MCCC1 (V321fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 2861683	NM_020166.5(MCCC1):c.2160C>T (p.Asp720=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2861175	NM_020166.5(MCCC1):c.89+17T>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2860965	NM_020166.5(MCCC1):c.1869+9T>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2857602	NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)	MCCC1 (G476* +2 more)	Single nucleotide variant (nonsense +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 2854995	NM_020166.5(MCCC1):c.603T>G (p.Pro201=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2853622	NM_020166.5(MCCC1):c.981A>C (p.Ser327=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2853267	NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2852272	NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2848567	NM_020166.5(MCCC1):c.300C>A (p.Pro100=)	MCCC1 (P24Q)	Single nucleotide variant (missense variant +3 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2848375	NM_020166.5(MCCC1):c.89+12G>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2846922	NM_020166.5(MCCC1):c.1681+7A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2846821	NM_020166.5(MCCC1):c.948T>G (p.Val316=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2840466	NM_020166.5(MCCC1):c.1407C>T (p.Phe469=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2839303	NM_020166.5(MCCC1):c.1839C>T (p.Ile613=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2835060	NM_020166.5(MCCC1):c.1594+10G>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2832432	NM_020166.5(MCCC1):c.639+8T>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2828107	NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2827411	NM_020166.5(MCCC1):c.491+10T>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2822753	NM_020166.5(MCCC1):c.274-18G>A	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2816231	NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2815096	NM_020166.5(MCCC1):c.955+16C>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2813066	NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)	MCCC1 (K377I +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 2801890	NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2797555	NM_020166.5(MCCC1):c.79C>T (p.Leu27=)	MCCC1	Single nucleotide variant (5 prime UTR variant +2 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2794635	NM_020166.5(MCCC1):c.1731+7C>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign

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