MLYCD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	ACSF3, ADAD2 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC400553, LOC654780 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	ACSF3, ADAD2 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	LINC02176, LOC101928392 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LINC00917, LINC01081 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 149552	GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3	CDH13, CDH13-AS2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	LOC130059799, LOC130059800 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 152595	GRCh38/hg38 16q23.3(chr16:83529919-83921660)x3	CDH13, CDH13-AS2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 60063	GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3	CDH13, CDH13-AS2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, ATP2C2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 60064	GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3	CDH13, CDH13-AS2 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, ATP2C2 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	ADAD2, ATP2C2 +227 more	Copy number loss	See cases	GPathogenic
Select item 1192826	NC_000016.10:g.83898796C>A	MLYCD	Single nucleotide variant	not provided	GLikely benign
Select item 1241232	NC_000016.10:g.83898913G>A	LOC130059554, MLYCD	Single nucleotide variant	not provided	GBenign
Select item 1210964	NC_000016.10:g.83898994C>G	LOC130059554, MLYCD	Single nucleotide variant	not provided	GLikely benign
Select item 391664	NM_012213.2(MLYCD):c.-36G>T	LOC130059554, MLYCD	Single nucleotide variant	not specified	GLikely benign
Select item 381203	NM_012213.2(MLYCD):c.-33G>C	LOC130059554, MLYCD	Single nucleotide variant	not provided	GBenign
Select item 389744	NM_012213.3(MLYCD):c.-30G>C	LOC130059554, MLYCD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 510978	NM_012213.3(MLYCD):c.-23C>A	LOC130059554, MLYCD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 584161	NC_000016.10:g.(?_83899125)_(83915509_?)del	LOC126862422, LOC130059554 +2 more	Deletion	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 320719	NM_012213.3(MLYCD):c.-11T>C	LOC130059554, MLYCD	Single nucleotide variant (5 prime UTR variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 383059	NM_012213.3(MLYCD):c.-7G>A	LOC130059554, MLYCD	Single nucleotide variant (5 prime UTR variant)	MLYCD-related condition +2 more	GBenign/Likely benign
Select item 511138	NM_012213.3(MLYCD):c.-6G>C	LOC130059554, MLYCD	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2634044	NM_012213.3(MLYCD):c.1A>C (p.Met1Leu)	LOC130059554, MLYCD (M1L)	Single nucleotide variant (missense variant +1 more)	Deficiency of malonyl-CoA decarboxylase +1 more	GPathogenic/Likely pathogenic
Select item 847051	NM_012213.3(MLYCD):c.1A>T (p.Met1Leu)	LOC130059554, MLYCD (M1L)	Single nucleotide variant (missense variant +1 more)	Deficiency of malonyl-CoA decarboxylase	GPathogenic/Likely pathogenic
Select item 2705148	NM_012213.3(MLYCD):c.2T>C (p.Met1Thr)	LOC130059554, MLYCD (M1T)	Single nucleotide variant (missense variant +1 more)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 1972100	NM_012213.3(MLYCD):c.7G>A (p.Gly3Ser)	LOC130059554, MLYCD (G3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1006760	NM_012213.3(MLYCD):c.8G>T (p.Gly3Val)	LOC130059554, MLYCD (G3V)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 4059	NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)	LOC130059554, MLYCD (G3D)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GConflicting classifications of pathogenicity
Select item 2965658	NM_012213.3(MLYCD):c.9C>G (p.Gly3=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 529876	NM_012213.3(MLYCD):c.9C>T (p.Gly3=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 382482	NM_012213.3(MLYCD):c.12C>T (p.Phe4=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1400055	NM_012213.3(MLYCD):c.22_34dup (p.Arg12fs)	LOC130059554, MLYCD (R12fs)	Duplication (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 320720	NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg)	LOC130059554, MLYCD (G5R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2890013	NM_012213.3(MLYCD):c.22_34del (p.Leu8fs)	LOC130059554, MLYCD (L8fs)	Deletion (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 1936665	NM_012213.3(MLYCD):c.14G>C (p.Gly5Ala)	LOC130059554, MLYCD (G5A)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 1105212	NM_012213.3(MLYCD):c.18A>G (p.Pro6=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2793013	NM_012213.3(MLYCD):c.21C>G (p.Gly7=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2737623	NM_012213.3(MLYCD):c.21C>A (p.Gly7=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2775993	NM_012213.3(MLYCD):c.24G>A (p.Leu8=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2768870	NM_012213.3(MLYCD):c.27G>T (p.Thr9=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2730260	NM_012213.3(MLYCD):c.27G>A (p.Thr9=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2877477	NM_012213.3(MLYCD):c.30C>T (p.Ala10=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2791824	NM_012213.3(MLYCD):c.30C>G (p.Ala10=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 138234	NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly)	LOC130059554, MLYCD (R11G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 888501	NM_012213.3(MLYCD):c.32G>A (p.Arg11Lys)	LOC130059554, MLYCD (R11K)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2646902	NM_012213.3(MLYCD):c.36T>G (p.Arg12=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GLikely benign
Select item 888502	NM_012213.3(MLYCD):c.41T>G (p.Leu14Arg)	LOC130059554, MLYCD (L14R)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2845221	NM_012213.3(MLYCD):c.42C>A (p.Leu14=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2726850	NM_012213.3(MLYCD):c.42C>T (p.Leu14=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2825686	NM_012213.3(MLYCD):c.54G>A (p.Leu18=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 1407012	NM_012213.3(MLYCD):c.58C>T (p.Pro20Ser)	LOC130059554, MLYCD (P20S)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 1424276	NM_012213.3(MLYCD):c.60del (p.Arg21fs)	LOC130059554, MLYCD (R21fs)	Deletion (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 1043985	NM_012213.3(MLYCD):c.64C>T (p.Pro22Ser)	LOC130059554, MLYCD (P22S)	Single nucleotide variant (missense variant)	MLYCD-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2751858	NM_012213.3(MLYCD):c.66G>A (p.Pro22=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 1947155	NM_012213.3(MLYCD):c.69C>G (p.Pro23=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2902432	NM_012213.3(MLYCD):c.72G>A (p.Gly24=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2855976	NM_012213.3(MLYCD):c.72G>T (p.Gly24=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2689433	NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr)	LOC130059554, MLYCD (P25T)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2163959	NM_012213.3(MLYCD):c.76C>A (p.Arg26=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2127049	NM_012213.3(MLYCD):c.76C>T (p.Arg26Trp)	LOC130059554, MLYCD (R26W)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2745884	NM_012213.3(MLYCD):c.84G>T (p.Ala28=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 4061	NM_012213.3(MLYCD):c.92_116del (p.Gln31fs)	LOC130059554, MLYCD (Q31fs)	Deletion (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 1982728	NM_012213.3(MLYCD):c.85A>C (p.Ser29Arg)	LOC130059554, MLYCD (S29R)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 514065	NM_012213.3(MLYCD):c.87C>T (p.Ser29=)	MLYCD, LOC130059554	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2978375	NM_012213.3(MLYCD):c.93G>A (p.Gln31=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2822669	NM_012213.3(MLYCD):c.96G>A (p.Ala32=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2872405	NM_012213.3(MLYCD):c.102C>A (p.Gly34=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2083557	NM_012213.3(MLYCD):c.104C>T (p.Ala35Val)	LOC130059554, MLYCD (A35V)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2905246	NM_012213.3(MLYCD):c.108G>A (p.Leu36=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 4060	NM_012213.3(MLYCD):c.119T>C (p.Met40Thr)	LOC130059554, MLYCD (M40T)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 1982518	NM_012213.3(MLYCD):c.123C>A (p.Asp41Glu)	LOC130059554, MLYCD (D41E)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2888559	NM_012213.3(MLYCD):c.124G>T (p.Glu42Ter)	LOC130059554, MLYCD (E42*)	Single nucleotide variant (nonsense)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 2904691	NM_012213.3(MLYCD):c.129G>T (p.Leu43=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 512092	NM_012213.3(MLYCD):c.129G>A (p.Leu43=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2711615	NM_012213.3(MLYCD):c.130C>T (p.Leu44=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2709363	NM_012213.3(MLYCD):c.132G>A (p.Leu44=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 1995053	NM_012213.3(MLYCD):c.134G>T (p.Arg45Leu)	LOC130059554, MLYCD (R45L)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 320721	NM_012213.3(MLYCD):c.135C>T (p.Arg45=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2444521	NM_012213.3(MLYCD):c.136C>G (p.Arg46Gly)	LOC130059554, MLYCD (R46G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296421	NM_012213.3(MLYCD):c.137G>A (p.Arg46His)	LOC130059554, MLYCD (R46H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2875069	NM_012213.3(MLYCD):c.141G>C (p.Ala47=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign

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