"GeneDx"[submitter] AND "MLYCD"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
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 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	NC_000016.10:g.83899112G>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 383059	NM_012213.3(MLYCD):c.-7G>A	LOC130059554, MLYCD	Single nucleotide variant (5 prime UTR variant)	Deficiency of malonyl-CoA decarboxylase +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 382482	NM_012213.3(MLYCD):c.12C>T (p.Phe4=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GLikely benign
Select item 320720	NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg)	LOC130059554, MLYCD (G5R)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 138234	NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly)	LOC130059554, MLYCD (R11G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 512092	NM_012213.3(MLYCD):c.129G>A (p.Leu43=)	MLYCD, LOC130059554	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 320721	NM_012213.3(MLYCD):c.135C>T (p.Arg45=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	not specified +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 252676	NM_012213.3(MLYCD):c.206C>T (p.Ala69Val)	MLYCD (A69V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1304741	NM_012213.3(MLYCD):c.224A>T (p.Tyr75Phe)	MLYCD (Y75F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386040	NM_012213.3(MLYCD):c.375C>G (p.Ala125=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GBenign/Likely benign
Select item 390554	NM_012213.3(MLYCD):c.393C>T (p.Tyr131=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GBenign/Likely benign
Select item 384214	NM_012213.3(MLYCD):c.408C>G (p.Arg136=)	MLYCD	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 95500	NM_012213.3(MLYCD):c.444C>T (p.Asp148=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GBenign
Select item 203813	NM_012213.3(MLYCD):c.475del (p.Ala159fs)	LOC130059555, MLYCD (A159fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 378148	NM_012213.3(MLYCD):c.507G>A (p.Leu169=)	LOC130059555, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GLikely benign
Select item 513504	NM_012213.3(MLYCD):c.528+19T>G	LOC130059555, MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GLikely benign
Select item 95501	NM_012213.3(MLYCD):c.528+19T>C	LOC130059555, MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GBenign
Select item 1186067	NM_012213.3(MLYCD):c.528+118T>G	MLYCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221265	NM_012213.3(MLYCD):c.528+177C>T	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253952	NM_012213.3(MLYCD):c.529-290G>C	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232328	NM_012213.3(MLYCD):c.529-246_529-245insA	MLYCD	Insertion (intron variant)	not provided	GBenign
Select item 1282250	NM_012213.3(MLYCD):c.529-112A>G	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277262	NM_012213.3(MLYCD):c.529-98C>T	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506769	NM_012213.3(MLYCD):c.529-20A>G	MLYCD	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 320726	NM_012213.3(MLYCD):c.529-8C>T	MLYCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 4055	NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter)	MLYCD (S187*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1298036	NM_012213.3(MLYCD):c.641+28G>T	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234266	NM_012213.3(MLYCD):c.641+146A>G	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240919	NM_012213.3(MLYCD):c.641+152C>T	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289841	NM_012213.3(MLYCD):c.641+173C>T	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245181	NM_012213.3(MLYCD):c.641+192C>A	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272991	NM_012213.3(MLYCD):c.641+218T>C	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274018	NM_012213.3(MLYCD):c.641+290C>G	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178919	NM_012213.3(MLYCD):c.641+326A>G	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268498	NM_012213.3(MLYCD):c.641+330G>C	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180227	NM_012213.3(MLYCD):c.642-225G>A	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95502	NM_012213.3(MLYCD):c.642-12A>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GBenign
Select item 95503	NM_012213.3(MLYCD):c.642-5C>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GBenign
Select item 138235	NM_012213.3(MLYCD):c.732G>A (p.Ser244=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GBenign
Select item 95505	NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala)	MLYCD (G259A)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GBenign/Likely benign
Select item 1300395	NM_012213.3(MLYCD):c.798+107del	MLYCD	Deletion (intron variant)	not provided	GLikely benign
Select item 1234139	NM_012213.3(MLYCD):c.798+152C>T	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290164	NM_012213.3(MLYCD):c.798+154A>T	MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227994	NM_012213.3(MLYCD):c.799-322T>G	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200264	NM_012213.3(MLYCD):c.799-46del	LOC126862422, MLYCD	Deletion (intron variant)	not provided	GLikely benign
Select item 383501	NM_012213.3(MLYCD):c.799-19C>T	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 381435	NM_012213.3(MLYCD):c.799-16C>T	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase +2 more	GBenign/Likely benign
Select item 390004	NM_012213.3(MLYCD):c.799-15G>A	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 138232	NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala)	LOC126862422, MLYCD (T284A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 387075	NM_012213.3(MLYCD):c.894C>G (p.Leu298=)	LOC126862422, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GLikely benign
Select item 138233	NM_012213.3(MLYCD):c.925A>C (p.Lys309Gln)	LOC126862422, MLYCD (K309Q)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +3 more	GBenign/Likely benign
Select item 1014754	NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)	LOC126862422, MLYCD (R310Q)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 420574	NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro)	LOC126862422, MLYCD (R310P)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GUncertain significance
Select item 379914	NM_012213.3(MLYCD):c.946C>T (p.Gln316Ter)	LOC126862422, MLYCD (Q316*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 513591	NM_012213.3(MLYCD):c.948+11C>T	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GLikely benign
Select item 1320676	NM_012213.3(MLYCD):c.948+134G>T	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292136	NM_012213.3(MLYCD):c.948+144A>G	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181206	NM_012213.3(MLYCD):c.948+239C>T	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321613	NM_012213.3(MLYCD):c.949-149A>G	MLYCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420667	NM_012213.3(MLYCD):c.979A>C (p.Ser327Arg)	MLYCD (S327R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1183295	NM_012213.3(MLYCD):c.1004C>A (p.Thr335Asn)	MLYCD (T335N)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 697445	NM_012213.3(MLYCD):c.1007A>G (p.Lys336Arg)	MLYCD (K336R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 432061	NM_012213.3(MLYCD):c.1013T>C (p.Leu338Pro)	MLYCD (L338P)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 320731	NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp)	MLYCD (E348D)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 382102	NM_012213.3(MLYCD):c.1074G>A (p.Ser358=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 320732	NM_012213.3(MLYCD):c.1098C>T (p.Ile366=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GConflicting classifications of pathogenicity
Select item 386354	NM_012213.3(MLYCD):c.1146C>T (p.Ser382=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GLikely benign
Select item 450855	NM_012213.3(MLYCD):c.1160C>G (p.Ser387Trp)	MLYCD (S387W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 387254	NM_012213.3(MLYCD):c.1191G>A (p.Pro397=)	MLYCD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 650475	NM_012213.3(MLYCD):c.1294C>T (p.Arg432Cys)	MLYCD (R432C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 429477	NM_012213.3(MLYCD):c.1295G>A (p.Arg432His)	MLYCD (R432H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1509223	NM_012213.3(MLYCD):c.1300A>G (p.Asn434Asp)	MLYCD (N434D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 507520	NM_012213.3(MLYCD):c.1383G>A (p.Thr461=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase +1 more	GLikely benign
Select item 501148	NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)	MLYCD (I474V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320740	NM_012213.3(MLYCD):c.1464A>G (p.Gln488=)	MLYCD	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1306457	NM_012213.3(MLYCD):c.*7A>G	MLYCD	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 253901	GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1	LOC654780, OSGIN1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 91