"PreventionGenetics, part of Exact Sciences"[submitter] AND "BCKDK"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1464679	NM_005881.4(BCKDK):c.120G>A (p.Val40=)	BCKDK	Single nucleotide variant (synonymous variant)	BCKDK-related condition +1 more	GLikely benign
Select item 2634698	NM_005881.4(BCKDK):c.424-6C>G	BCKDK	Single nucleotide variant (intron variant)	BCKDK-related condition	GUncertain significance
Select item 1165600	NM_005881.4(BCKDK):c.544-10C>T	BCKDK	Single nucleotide variant (intron variant)	BCKDK-related condition +1 more	GBenign/Likely benign
Select item 259887	NM_005881.4(BCKDK):c.561C>A (p.Arg187=)	BCKDK	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 128521	NM_005881.4(BCKDK):c.615G>A (p.Thr205=)	BCKDK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3037870	NM_005881.4(BCKDK):c.642+10T>A	BCKDK	Single nucleotide variant (intron variant)	BCKDK-related condition	GLikely benign
Select item 3035954	NM_005881.4(BCKDK):c.845+6G>A	BCKDK	Single nucleotide variant (intron variant)	BCKDK-related condition	GLikely benign
Select item 128522	NM_005881.4(BCKDK):c.845+10C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency +2 more	GBenign
Select item 3045170	NM_005881.4(BCKDK):c.1071C>T (p.Gly357=)	BCKDK	Single nucleotide variant (synonymous variant)	BCKDK-related condition	GLikely benign
Select item 2637093	NM_005881.4(BCKDK):c.1115C>G (p.Thr372Arg)	BCKDK (T372R)	Single nucleotide variant (3 prime UTR variant +1 more)	BCKDK-related condition	GUncertain significance
Select item 499436	NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	BCKDK-related condition +2 more	GConflicting classifications of pathogenicity
Select item 289608	NM_005881.4(BCKDK):c.*9C>A	BCKDK	Single nucleotide variant (3 prime UTR variant)	BCKDK-related condition +1 more	GConflicting classifications of pathogenicity