56922[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	LOC129938004, LOC129938005 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 149403	GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3	ATP11B, B3GNT5 +55 more	Copy number gain	See cases	GUncertain significance
Select item 899438	NM_020166.5(MCCC1):c.*90G>A	MCCC1	Single nucleotide variant (3 prime UTR variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 344300	NM_020166.5(MCCC1):c.*45A>T	MCCC1	Single nucleotide variant (3 prime UTR variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 420442	NM_020166.5(MCCC1):c.15_40del	MCCC1	Deletion (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 900560	NM_020166.5(MCCC1):c.*6A>C	MCCC1	Single nucleotide variant (3 prime UTR variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 344301	NM_020166.5(MCCC1):c.*1A>T	MCCC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1557441	NM_020166.5(MCCC1):c.2172G>C (p.Ser724=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1157219	NM_020166.5(MCCC1):c.2172G>A (p.Ser724=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GLikely benign
Select item 344302	NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)	MCCC1 (S724L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 138181	NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys)	MCCC1 (E717K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1080597	NM_020166.5(MCCC1):c.2136C>T (p.Val712=)	MCCC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 654061	NM_020166.5(MCCC1):c.2123dup (p.His708fs)	MCCC1 (H591fs +2 more)	Duplication (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 1355203	NM_020166.5(MCCC1):c.2115del (p.Asn706fs)	MCCC1 (N706fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 2723449	NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2084440	NM_020166.5(MCCC1):c.2091G>A (p.Val697=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2289860	NM_020166.5(MCCC1):c.2090T>C (p.Val697Ala)	MCCC1 (V580A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 991780	NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)	MCCC1 (V580M +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
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 765808	NM_020166.5(MCCC1):c.2085G>A (p.Lys695=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 203800	NM_020166.5(MCCC1):c.2085del (p.Val697fs)	MCCC1 (V580fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1098084	NM_020166.5(MCCC1):c.2082A>G (p.Val694=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1095542	NM_020166.5(MCCC1):c.2079A>T (p.Thr693=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
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 1026811	NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val)	MCCC1 (I569V +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 542947	NM_020166.5(MCCC1):c.2051A>G (p.His684Arg)	MCCC1 (H684R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 1514730	NM_020166.5(MCCC1):c.2050-2A>G	MCCC1	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 344303	NM_020166.5(MCCC1):c.2050-6_2050-5del	MCCC1	Microsatellite (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2069778	NM_020166.5(MCCC1):c.2050-15C>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1598224	NM_020166.5(MCCC1):c.2050-17G>C	MCCC1	Single nucleotide variant (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 684210	NM_020166.5(MCCC1):c.2050-193A>G	MCCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190917	NM_020166.5(MCCC1):c.2049+237T>C	MCCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218991	NM_020166.5(MCCC1):c.2049+31G>A	MCCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727211	NM_020166.5(MCCC1):c.2049+15A>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1144563	NM_020166.5(MCCC1):c.2049+10T>C	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1097709	NM_020166.5(MCCC1):c.2049+9A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 2075660	NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)	MCCC1 (M565I +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GUncertain significance
Select item 2088092	NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)	MCCC1 (M565R +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 964865	NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)	MCCC1 (A562T +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 703370	NM_020166.5(MCCC1):c.2034C>T (p.Ile678=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	MCCC1-related condition +1 more	GLikely benign
Select item 476397	NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg)	MCCC1 (M677R +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 2314226	NM_020166.5(MCCC1):c.2024T>G (p.Met675Arg)	MCCC1 (M558R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1010417	NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)	MCCC1 (M558T +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 1518056	NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly)	MCCC1 (D563G +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GUncertain significance
Select item 2770664	NM_020166.5(MCCC1):c.2014del (p.Asp672fs)	MCCC1 (D555fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
Select item 1917679	NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1088811	NM_020166.5(MCCC1):c.2010G>A (p.Ala670=)	MCCC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 863699	NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)	MCCC1 (A561V +2 more)	Single nucleotide variant (missense variant +1 more)	MCCC1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2236271	NM_020166.5(MCCC1):c.2003T>C (p.Val668Ala)	MCCC1 (V551A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 656337	NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)	MCCC1 (G548E +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 2082154	NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)	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 1160369	NM_020166.5(MCCC1):c.1978-8del	MCCC1	Deletion (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency +1 more	GLikely benign
Select item 1174022	NM_020166.5(MCCC1):c.1978-57G>T	MCCC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1174023	NM_020166.5(MCCC1):c.1978-86A>C	MCCC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 684209	NM_020166.5(MCCC1):c.1978-186G>A	MCCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260350	NM_020166.5(MCCC1):c.1978-194C>A	MCCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684208	NM_020166.5(MCCC1):c.1978-287T>A	MCCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294249	NM_020166.5(MCCC1):c.1977+94T>G	MCCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 498130	NM_020166.5(MCCC1):c.1973_1977+28del	MCCC1	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely 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 2765465	NM_020166.5(MCCC1):c.1977+9A>T	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1642886	NM_020166.5(MCCC1):c.1977+9A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1085640	NM_020166.5(MCCC1):c.1977+7A>G	MCCC1	Single nucleotide variant (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
Select item 1354670	NM_020166.5(MCCC1):c.1977+4dup	MCCC1	Duplication (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 1945810	NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)	MCCC1 (I548T +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
Select item 1324700	NM_020166.5(MCCC1):c.1943_1944dup (p.Pro649fs)	MCCC1 (P532fs +2 more)	Duplication (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 900561	NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GConflicting classifications of pathogenicity
Select item 384256	NM_020166.5(MCCC1):c.1941C>A (p.Gly647=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 954105	NM_020166.5(MCCC1):c.1937del (p.Gln646fs)	MCCC1 (Q537fs +2 more)	Deletion (frameshift variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GPathogenic
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 1367260	NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg)	MCCC1 (Q526R +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
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 2057179	NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)	MCCC1 (L528V +2 more)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GUncertain significance
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 167267	NM_020166.5(MCCC1):c.1905del (p.Lys635fs)	MCCC1 (K635fs +2 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 344304	NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)	MCCC1 (P632S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
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 2748036	NM_020166.5(MCCC1):c.1875A>C (p.Gly625=)	MCCC1	Single nucleotide variant (synonymous variant +1 more)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign
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 2177386	NM_020166.5(MCCC1):c.1870-2A>G	MCCC1	Single nucleotide variant (splice acceptor variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely pathogenic
Select item 2698946	NM_020166.5(MCCC1):c.1870-18_1870-16dup	MCCC1	Duplication (intron variant)	3-methylcrotonyl-CoA carboxylase 1 deficiency	GLikely benign

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