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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 392925	NM_005881.4(BCKDK):c.249C>A (p.Asp83Glu)	BCKDK (D83E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700259	NM_005881.4(BCKDK):c.341T>C (p.Phe114Ser)	BCKDK (F114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499789	NM_005881.4(BCKDK):c.364A>G (p.Ile122Val)	BCKDK (I122V)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GUncertain significance
Select item 2430650	NM_005881.4(BCKDK):c.433C>T (p.Gln145Ter)	BCKDK (Q145*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 39743	NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)	BCKDK (R156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1037546	NM_005881.4(BCKDK):c.556G>A (p.Val186Ile)	BCKDK (V186I)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GUncertain significance
Select item 128521	NM_005881.4(BCKDK):c.615G>A (p.Thr205=)	BCKDK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1306869	NM_005881.4(BCKDK):c.694G>A (p.Glu232Lys)	BCKDK (E232K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276182	NM_005881.4(BCKDK):c.716+147C>T	BCKDK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251060	NM_005881.4(BCKDK):c.845+31C>T	BCKDK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 193684	NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)	BCKDK (A283T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 386703	NM_005881.4(BCKDK):c.943G>C (p.Asp315His)	BCKDK (D315H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance