"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130005549" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878981	NM_003477.3(PDHX):c.-27C>T	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 214953	NM_003477.3(PDHX):c.-23C>A	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304460	NM_003477.3(PDHX):c.-7C>T	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 286346	NM_003477.3(PDHX):c.-4C>G	LOC130005549, PDHX	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 878982	NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)	LOC130005549, PDHX (R12Q)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304461	NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)	LOC130005549, PDHX (Y16S)	Single nucleotide variant (missense variant +1 more)	PDHX-related condition +2 more	GConflicting classifications of pathogenicity
Select item 286137	NM_003477.3(PDHX):c.63C>T (p.Pro21=)	LOC130005549, PDHX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 286347	NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)	PDHX, LOC130005549 (R23C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 138654	NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)	LOC130005549, PDHX (R24G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 286348	NM_003477.3(PDHX):c.108T>C (p.Ser36=)	LOC130005549, PDHX	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency +2 more	GBenign