ClinVar for MedGen (Select 766992) - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243521	NC_000016.9:g.(?_31120545)_(31123586_?)dup	BCKDK	Duplication	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
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 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 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 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 2920319	NM_005881.4(BCKDK):c.1182G>A (p.Thr394=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 2918878	NM_005881.4(BCKDK):c.1195C>A (p.Arg399=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
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 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 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 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 2725916	NM_005881.4(BCKDK):c.196-14del	BCKDK	Deletion (intron 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 2646469	NM_005881.4(BCKDK):c.960C>T (p.Ile320=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GLikely benign
Select item 2500177	NM_005881.4(BCKDK):c.979C>T (p.Arg327Trp)	BCKDK (R297W +1 more)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely pathogenic
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 2414135	NM_005881.4(BCKDK):c.1094+7C>A	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
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 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 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 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 2090266	NM_005881.4(BCKDK):c.1202G>A (p.Arg401His)	BCKDK (R401H)	Single nucleotide variant (3 prime UTR variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
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 2074291	NM_005881.4(BCKDK):c.972T>C (p.Asp324=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 2059097	NM_005881.4(BCKDK):c.936-11C>A	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
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 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 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 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 1697225	NM_005881.4(BCKDK):c.1159C>T (p.Gln387Ter)	BCKDK (Q387*)	Single nucleotide variant (3 prime UTR variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency	GPathogenic
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 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 1611065	NM_005881.4(BCKDK):c.1065T>C (p.His355=)	BCKDK	Single nucleotide variant (synonymous 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 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 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 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 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 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 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 1475943	NM_005881.4(BCKDK):c.1196G>A (p.Arg399Gln)	BCKDK (R399Q)	Single nucleotide variant (3 prime UTR variant +1 more)	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)	Branched-chain keto acid dehydrogenase kinase deficiency	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 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 1354983	NM_005881.4(BCKDK):c.917A>G (p.Asp306Gly)	BCKDK (D306G)	Single nucleotide variant (missense variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency	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 1256160	NM_005881.4(BCKDK):c.654C>T (p.Val218=)	BCKDK	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 1165600	NM_005881.4(BCKDK):c.544-10C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GBenign
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 1057562	NM_005881.4(BCKDK):c.846-3T>C	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
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 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 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 1008861	NM_005881.4(BCKDK):c.1131G>A (p.Ala377=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
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 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 955963	NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly)	BCKDK (E307G +1 more)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency	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 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 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 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 798877	NM_005881.4(BCKDK):c.1116G>A (p.Thr372=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	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 783737	NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser)	BCKDK (A61S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 779622	NM_005881.4(BCKDK):c.588G>A (p.Ser196=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GLikely benign
Select item 765691	NM_005881.4(BCKDK):c.1068T>C (p.Ser356=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
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 720197	NM_005881.4(BCKDK):c.936-10A>G	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
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 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 640951	NM_005881.4(BCKDK):c.196-8del	BCKDK	Deletion (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 502258	NM_005881.4(BCKDK):c.721C>T (p.Leu241=)	BCKDK	Single nucleotide variant (synonymous variant)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 499436	NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 289834	NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)	BCKDK (S356C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198833	NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr)	BCKDK (I231T)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GUncertain significance
Select item 197262	NM_005881.4(BCKDK):c.373G>A (p.Val125Met)	BCKDK (V125M)	Single nucleotide variant (missense variant)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GUncertain significance
Select item 194068	NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194067	NM_005881.4(BCKDK):c.1218G>A (p.Arg406=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193685	NM_005881.4(BCKDK):c.904A>G (p.Ile302Val)	BCKDK (I302V)	Single nucleotide variant (missense variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GUncertain significance
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 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 128522	NM_005881.4(BCKDK):c.845+10C>T	BCKDK	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 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 39744	NM_005881.4(BCKDK):c.222del (p.Met74fs)	BCKDK (M74fs)	Deletion (frameshift variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GPathogenic
Select item 39743	NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)	BCKDK (R156*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 89