ClinVar for Gene (Select 10295) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341769	NM_005881.4(BCKDK):c.921C>T (p.Val307=)	BCKDK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3260629	NM_005881.4(BCKDK):c.34G>C (p.Gly12Arg)	BCKDK (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3260627	NM_005881.4(BCKDK):c.70G>A (p.Ala24Thr)	BCKDK (A24T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3243521	NC_000016.9:g.(?_31120545)_(31123586_?)dup	BCKDK	Duplication	Branched-chain keto acid dehydrogenase kinase deficiency	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 3133373	NM_005881.4(BCKDK):c.559C>T (p.Arg187Cys)	BCKDK (R187C)	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 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 3045170	NM_005881.4(BCKDK):c.1071C>T (p.Gly357=)	BCKDK	Single nucleotide variant (synonymous variant)	BCKDK-related disorder	GLikely benign
Select item 3037870	NM_005881.4(BCKDK):c.642+10T>A	BCKDK	Single nucleotide variant (intron variant)	BCKDK-related disorder	GLikely benign
Select item 3035954	NM_005881.4(BCKDK):c.845+6G>A	BCKDK	Single nucleotide variant (intron variant)	BCKDK-related disorder	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 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 2683359	NM_005881.4(BCKDK):c.1072G>A (p.Ala358Thr)	BCKDK (A328T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2665074	GRCh38/hg38 16p11.2(chr16:31113127-31122901)	BCKDK, KAT8 +1 more	Copy number loss	Li-Ghorbani-Weisz-Hubshman syndrome	GUncertain significance
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 2637093	NM_005881.4(BCKDK):c.1115C>G (p.Thr372Arg)	BCKDK (T372R)	Single nucleotide variant (3 prime UTR variant +1 more)	BCKDK-related disorder	GUncertain significance
Select item 2634698	NM_005881.4(BCKDK):c.424-6C>G	BCKDK	Single nucleotide variant (intron variant)	BCKDK-related disorder	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 2552475	NM_005881.4(BCKDK):c.442G>A (p.Glu148Lys)	BCKDK (E148K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2458200	NM_005881.4(BCKDK):c.703G>C (p.Val235Leu)	BCKDK (V235L)	Single nucleotide variant (missense variant)	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
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 2430650	NM_005881.4(BCKDK):c.433C>T (p.Gln145Ter)	BCKDK (Q145*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2340322	NM_005881.4(BCKDK):c.289G>A (p.Glu97Lys)	BCKDK (E97K)	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 2306948	NM_005881.4(BCKDK):c.587C>T (p.Ser196Leu)	BCKDK (S196L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2254958	NM_005881.4(BCKDK):c.196C>T (p.Pro66Ser)	BCKDK (P66S)	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 2228461	NM_005881.4(BCKDK):c.397T>C (p.Phe133Leu)	BCKDK (F133L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1806901	NM_005881.4(BCKDK):c.626C>T (p.Ala209Val)	BCKDK (A209V)	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 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 1696422	NM_005881.4(BCKDK):c.424-1G>T	BCKDK	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1694794	NM_005881.4(BCKDK):c.1212T>C (p.Asp404=)	BCKDK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1690662	NM_005881.4(BCKDK):c.879C>A (p.Tyr293Ter)	BCKDK (Y293*)	Single nucleotide variant (nonsense +1 more)	See cases	GLikely pathogenic
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 1526506	GRCh37/hg19 16p11.2(chr16:30943854-31171177)	PRSS53, PRSS8 +12 more	Copy number loss	not specified	GLikely pathogenic
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 1306869	NM_005881.4(BCKDK):c.694G>A (p.Glu232Lys)	BCKDK (E232K)	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 1276182	NM_005881.4(BCKDK):c.716+147C>T	BCKDK	Single nucleotide variant (intron variant)	not provided	GBenign
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 1251060	NM_005881.4(BCKDK):c.845+31C>T	BCKDK	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 996751	NM_005881.4(BCKDK):c.646_649del (p.Asp216fs)	BCKDK (D216fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 994868	NM_005881.4(BCKDK):c.513G>A (p.Glu171=)	BCKDK	Single nucleotide variant (synonymous variant)	not provided	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

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