"GeneDx"[submitter] AND "LOC126862422"[gene] - ClinVar - NCBI

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Items: 19

	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 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