"GeneDx"[submitter] AND "BCKDHB"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1271069	NC_000006.12:g.80106428G>A	BCKDHB	Single nucleotide variant	not provided	GBenign
Select item 1233609	NC_000006.12:g.80106579T>C	BCKDHB	Single nucleotide variant	not provided	GBenign
Select item 1190086	NM_000056.4(BCKDHB):c.-71C>T	BCKDHB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 771663	NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)	BCKDHB (A6V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 358168	NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281334	NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 358169	NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 377557	NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)	BCKDHB (T41I)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease +1 more	GBenign
Select item 506774	NM_183050.4(BCKDHB):c.196+8C>G	BCKDHB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1288276	NM_183050.4(BCKDHB):c.196+142T>C	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683382	NM_183050.4(BCKDHB):c.197-206A>G	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190963	NM_183050.4(BCKDHB):c.197-46del	BCKDHB	Deletion (intron variant)	not provided	GLikely benign
Select item 96573	NM_183050.4(BCKDHB):c.197-25A>G	BCKDHB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1291044	NM_183050.4(BCKDHB):c.197-12dup	BCKDHB	Duplication (intron variant)	not provided	GBenign
Select item 96572	NM_183050.4(BCKDHB):c.197-11G>T	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease +1 more	GBenign
Select item 1283395	NM_183050.4(BCKDHB):c.275-288TG[19]	BCKDHB	Microsatellite (intron variant)	not provided	GBenign
Select item 1292648	NM_183050.4(BCKDHB):c.275-288TG[17]	BCKDHB	Microsatellite (intron variant)	not provided	GBenign
Select item 1289115	NM_183050.4(BCKDHB):c.275-288TG[16]	BCKDHB	Microsatellite (intron variant)	not provided	GBenign
Select item 1267816	NM_183050.4(BCKDHB):c.275-288TG[15]	BCKDHB	Microsatellite (intron variant)	not provided	GBenign
Select item 449661	NM_183050.4(BCKDHB):c.275-2A>G	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 432178	NM_183050.4(BCKDHB):c.305G>C (p.Gly102Ala)	BCKDHB (G102A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1291563	NM_183050.4(BCKDHB):c.343+101G>A	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270818	NM_183050.4(BCKDHB):c.343+196A>G	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300535	NM_183050.4(BCKDHB):c.344-102A>G	BCKDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175353	NM_183050.4(BCKDHB):c.344-88C>T	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease +1 more	GBenign/Likely benign
Select item 96581	NM_183050.4(BCKDHB):c.344-24C>T	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease +2 more	GBenign/Likely benign
Select item 512544	NM_183050.4(BCKDHB):c.393A>T (p.Gly131=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 496569	NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	BCKDHB (G135R +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A +4 more	GPathogenic/Likely pathogenic
Select item 384204	NM_183050.4(BCKDHB):c.447T>C (p.Phe149=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease +1 more	GBenign/Likely benign
Select item 384205	NM_183050.4(BCKDHB):c.477+14C>T	BCKDHB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1258066	NM_183050.4(BCKDHB):c.477+70C>T	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297410	NM_183050.4(BCKDHB):c.478-63C>A	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382965	NM_183050.4(BCKDHB):c.478-15C>T	BCKDHB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 96591	NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)	BCKDHB (R170H +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A +2 more	GPathogenic/Likely pathogenic
Select item 96595	NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	BCKDHB (R183W +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 11937	NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	BCKDHB (R183P +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1B +4 more	GPathogenic/Likely pathogenic
Select item 429468	NM_183050.4(BCKDHB):c.560G>A (p.Gly187Asp)	BCKDHB (G187D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1230692	NM_183050.4(BCKDHB):c.633+57T>C	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390609	NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe)	BCKDHB (V213F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 512545	NM_183050.4(BCKDHB):c.672T>G (p.Leu224=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 384206	NM_183050.4(BCKDHB):c.742+7A>T	BCKDHB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 96606	NM_183050.4(BCKDHB):c.742+16A>G	BCKDHB	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 683389	NM_183050.4(BCKDHB):c.742+182C>G	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202894	NM_183050.4(BCKDHB):c.742+194T>C	BCKDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187611	NM_183050.4(BCKDHB):c.742+239A>G	BCKDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279133	NM_183050.4(BCKDHB):c.743-80G>A	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224026	NM_183050.4(BCKDHB):c.743-17del	BCKDHB	Deletion (intron variant)	not provided	GBenign
Select item 424275	NM_183050.4(BCKDHB):c.776del (p.Pro259fs)	BCKDHB (P189fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 65771	NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)	BCKDHB (G278S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 370274	NM_183050.4(BCKDHB):c.840+1G>T	BCKDHB	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1195180	NM_183050.4(BCKDHB):c.840+156T>G	BCKDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274177	NM_183050.4(BCKDHB):c.841-306C>T	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226580	NM_183050.4(BCKDHB):c.841-234G>A	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 96613	NM_183050.4(BCKDHB):c.841-73C>T	BCKDHB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 96619	NM_183050.4(BCKDHB):c.951+48C>T	BCKDHB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1344927	NM_183050.4(BCKDHB):c.951+62A>T	BCKDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683390	NM_183050.4(BCKDHB):c.951+287A>G	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175367	NM_183050.4(BCKDHB):c.952-151G>A	BCKDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 358171	NM_183050.4(BCKDHB):c.987C>T (p.His329=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease +2 more	GBenign/Likely benign
Select item 432059	NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	BCKDHB (P332L +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 382425	NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 203639	NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)	BCKDHB (I341N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1344928	NM_183050.4(BCKDHB):c.1038+27A>C	BCKDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179612	NM_183050.4(BCKDHB):c.1038+100T>C	BCKDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281802	NM_183050.4(BCKDHB):c.1038+274T>A	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683392	NM_183050.4(BCKDHB):c.1039-274G>A	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233022	NM_183050.4(BCKDHB):c.1039-264G>A	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683394	NM_183050.4(BCKDHB):c.1039-164G>T	BCKDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668326	NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 527133	NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val)	BCKDHB (E372V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 426394	NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val)	BCKDHB (I390V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +1 more	GUncertain significance
Select item 358174	NM_183050.4(BCKDHB):c.*121G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease +1 more	GBenign
Select item 1251105	NM_183050.4(BCKDHB):c.*198GTT[4]	BCKDHB	Microsatellite (3 prime UTR variant +2 more)	not provided	GBenign
Select item 358175	NM_183050.4(BCKDHB):c.*236G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 358176	NM_183050.4(BCKDHB):c.*293T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 358177	NM_183050.4(BCKDHB):c.*304G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease +1 more	GBenign
Select item 382406	NM_183050.4(BCKDHB):c.*2186A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 358212	NM_183050.4(BCKDHB):c.*2271G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 358213	NM_183050.4(BCKDHB):c.*2282C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Maple syrup urine disease +1 more	GBenign

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Items: 79