BCKDK[gene] - ClinVar - NCBI

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	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 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	RUSF1-DT, SETD1A +136 more	Copy number gain	See cases	GPathogenic
Select item 1051988	NM_005881.4(BCKDK):c.10G>C (p.Ala4Pro)	BCKDK (A4P)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 1666229	NM_005881.4(BCKDK):c.15G>C (p.Ser5=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1517605	NM_005881.4(BCKDK):c.31C>T (p.Pro11Ser)	BCKDK (P11S)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 1478944	NM_005881.4(BCKDK):c.34G>A (p.Gly12Arg)	BCKDK (G12R)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 994867	NM_005881.4(BCKDK):c.38G>C (p.Gly13Ala)	BCKDK (G13A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285549	NM_005881.4(BCKDK):c.50_71del (p.Leu17fs)	BCKDK (L17fs)	Deletion (frameshift variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GPathogenic
Select item 195254	NM_005881.4(BCKDK):c.47C>T (p.Pro16Leu)	BCKDK (P16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173728	NM_005881.4(BCKDK):c.54G>A (p.Arg18=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1620858	NM_005881.4(BCKDK):c.66A>T (p.Gly22=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1567599	NM_005881.4(BCKDK):c.78G>C (p.Ala26=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 808034	NM_005881.4(BCKDK):c.79C>T (p.Leu27Phe)	BCKDK (L27F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1943284	NM_005881.4(BCKDK):c.117C>G (p.His39Gln)	BCKDK (H39Q)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
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 2306881	NM_005881.4(BCKDK):c.172G>A (p.Ala58Thr)	BCKDK (A58T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783737	NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser)	BCKDK (A61S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 650837	NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu)	BCKDK (K65E)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 1096874	NM_005881.4(BCKDK):c.195+10G>A	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 2725916	NM_005881.4(BCKDK):c.196-14del	BCKDK	Deletion (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 640951	NM_005881.4(BCKDK):c.196-8del	BCKDK	Deletion (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 2034076	NM_005881.4(BCKDK):c.196-4C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
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 2729882	NM_005881.4(BCKDK):c.219C>G (p.Thr73=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 39744	NM_005881.4(BCKDK):c.222del (p.Met74fs)	BCKDK (M74fs)	Deletion (frameshift variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GPathogenic
Select item 1167849	NM_005881.4(BCKDK):c.249C>T (p.Asp83=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GBenign
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 1536035	NM_005881.4(BCKDK):c.262C>T (p.Leu88=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 2691734	NM_005881.4(BCKDK):c.264+1G>C	BCKDK	Single nucleotide variant (splice donor variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GPathogenic
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 1028955	NM_005881.4(BCKDK):c.305T>C (p.Ile102Thr)	BCKDK (I102T)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	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 969568	NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr)	BCKDK (I116T)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 808035	NM_005881.4(BCKDK):c.357C>A (p.Asn119Lys)	BCKDK (N119K)	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 756783	NM_005881.4(BCKDK):c.372C>T (p.His124=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 197262	NM_005881.4(BCKDK):c.373G>A (p.Val125Met)	BCKDK (V125M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2796791	NM_005881.4(BCKDK):c.375+14G>A	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 3017341	NM_005881.4(BCKDK):c.376-13C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 2132071	NM_005881.4(BCKDK):c.384A>G (p.Leu128=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
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 2980579	NM_005881.4(BCKDK):c.424-20C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1945788	NM_005881.4(BCKDK):c.424-18T>C	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	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 1696422	NM_005881.4(BCKDK):c.424-1G>T	BCKDK	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 2430650	NM_005881.4(BCKDK):c.433C>T (p.Gln145Ter)	BCKDK (Q145*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 434505	NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter)	BCKDK (Y151*)	Single nucleotide variant (nonsense)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely pathogenic
Select item 282610	NM_005881.4(BCKDK):c.466C>G (p.Arg156Gly)	BCKDK (R156G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39743	NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)	BCKDK (R156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2446422	NM_005881.4(BCKDK):c.486C>A (p.His162Gln)	BCKDK (H162Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease, mild variant	GUncertain significance
Select item 198186	NM_005881.4(BCKDK):c.488A>G (p.Lys163Arg)	BCKDK (K163R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499562	NM_005881.4(BCKDK):c.500C>A (p.Thr167Asn)	BCKDK (T167N)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 994868	NM_005881.4(BCKDK):c.513G>A (p.Glu171=)	BCKDK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2854018	NM_005881.4(BCKDK):c.516C>A (p.Gly172=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 2958724	NM_005881.4(BCKDK):c.519A>G (p.Leu173=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
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 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 1000745	NM_005881.4(BCKDK):c.544-8C>G	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 1360581	NM_005881.4(BCKDK):c.552G>C (p.Lys184Asn)	BCKDK (K184N)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 2897070	NM_005881.4(BCKDK):c.555C>T (p.Leu185=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1037546	NM_005881.4(BCKDK):c.556G>A (p.Val186Ile)	BCKDK (V186I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2973395	NM_005881.4(BCKDK):c.561C>T (p.Arg187=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely 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 1382218	NM_005881.4(BCKDK):c.563A>G (p.Tyr188Cys)	BCKDK (Y188C)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	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 779622	NM_005881.4(BCKDK):c.588G>A (p.Ser196=)	BCKDK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1176350	NM_005881.4(BCKDK):c.591G>T (p.Arg197Ser)	BCKDK (R197S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1806901	NM_005881.4(BCKDK):c.626C>T (p.Ala209Val)	BCKDK (A209V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037870	NM_005881.4(BCKDK):c.642+10T>A	BCKDK	Single nucleotide variant (intron variant)	BCKDK-related condition	GLikely benign
Select item 996751	NM_005881.4(BCKDK):c.646_649del (p.Asp216fs)	BCKDK (D216fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 2100037	NM_005881.4(BCKDK):c.645T>G (p.Pro215=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1256160	NM_005881.4(BCKDK):c.654C>T (p.Val218=)	BCKDK	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 210517	NM_005881.4(BCKDK):c.669T>C (p.Thr223=)	BCKDK	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 593621	NM_005881.4(BCKDK):c.670C>T (p.Arg224Cys)	BCKDK (R224C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39745	NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro)	BCKDK (R224P)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GPathogenic
Select item 198833	NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr)	BCKDK (I231T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2458200	NM_005881.4(BCKDK):c.703G>C (p.Val235Leu)	BCKDK (V235L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 166744	NM_005881.4(BCKDK):c.716+10G>C	BCKDK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1946603	NM_005881.4(BCKDK):c.716+18C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1276182	NM_005881.4(BCKDK):c.716+147C>T	BCKDK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1530225	NM_005881.4(BCKDK):c.717-15C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 784538	NM_005881.4(BCKDK):c.717-5C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1569938	NM_005881.4(BCKDK):c.717-4G>A	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 502258	NM_005881.4(BCKDK):c.721C>T (p.Leu241=)	BCKDK	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2172235	NM_005881.4(BCKDK):c.743A>G (p.Asn248Ser)	BCKDK (N248S)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	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 944223	NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu)	BCKDK (I265L)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 709678	NM_005881.4(BCKDK):c.822G>A (p.Pro274=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	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 1251060	NM_005881.4(BCKDK):c.845+31C>T	BCKDK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2074862	NM_005881.4(BCKDK):c.846-8C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 1057562	NM_005881.4(BCKDK):c.846-3T>C	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance

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