"Ambry Genetics"[submitter] AND "BCKDK"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260629	NM_005881.4(BCKDK):c.34G>C (p.Gly12Arg)	BCKDK (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3260627	NM_005881.4(BCKDK):c.70G>A (p.Ala24Thr)	BCKDK (A24T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 955153	NM_005881.4(BCKDK):c.86C>T (p.Ala29Val)	BCKDK (A29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2306881	NM_005881.4(BCKDK):c.172G>A (p.Ala58Thr)	BCKDK (A58T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254958	NM_005881.4(BCKDK):c.196C>T (p.Pro66Ser)	BCKDK (P66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133372	NM_005881.4(BCKDK):c.272C>T (p.Ala91Val)	BCKDK (A91V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340322	NM_005881.4(BCKDK):c.289G>A (p.Glu97Lys)	BCKDK (E97K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228461	NM_005881.4(BCKDK):c.397T>C (p.Phe133Leu)	BCKDK (F133L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331006	NM_005881.4(BCKDK):c.410C>A (p.Thr137Lys)	BCKDK (T137K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552475	NM_005881.4(BCKDK):c.442G>A (p.Glu148Lys)	BCKDK (E148K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804743	NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp)	BCKDK (R177W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3260630	NM_005881.4(BCKDK):c.530G>A (p.Arg177Gln)	BCKDK (R177Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133373	NM_005881.4(BCKDK):c.559C>T (p.Arg187Cys)	BCKDK (R187C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306948	NM_005881.4(BCKDK):c.587C>T (p.Ser196Leu)	BCKDK (S196L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458200	NM_005881.4(BCKDK):c.703G>C (p.Val235Leu)	BCKDK (V235L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588302	NM_005881.4(BCKDK):c.748C>T (p.Pro250Ser)	BCKDK (P250S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 166745	NM_005881.4(BCKDK):c.846-3T>A	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency +2 more	GUncertain significance
Select item 846730	NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)	BCKDK (T284I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3133375	NM_005881.4(BCKDK):c.896T>G (p.Val299Gly)	BCKDK (V299G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263778	NM_005881.4(BCKDK):c.980G>A (p.Arg327Gln)	BCKDK (R297Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230089	NM_005881.4(BCKDK):c.1013C>A (p.Ala338Asp)	BCKDK (A308D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 502453	NM_005881.4(BCKDK):c.1021C>A (p.Gln341Lys)	BCKDK (Q341K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3260628	NM_005881.4(BCKDK):c.1047T>A (p.Phe349Leu)	BCKDK (F349L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3133371	NM_005881.4(BCKDK):c.1141G>A (p.Gly381Ser)	BCKDK (G381S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454204	NM_005881.4(BCKDK):c.1217G>A (p.Arg406Gln)	BCKDK (R406Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 25