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

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2535516	NM_000709.4(BCKDHA):c.14T>C (p.Ile5Thr)	BCKDHA (I5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 385661	NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1787575	NM_000709.4(BCKDHA):c.21A>G (p.Ala7=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 1787573	NM_000709.4(BCKDHA):c.21A>C (p.Ala7=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 1789268	NM_000709.4(BCKDHA):c.22G>C (p.Ala8Pro)	BCKDHA (A8P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1093746	NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro)	BCKDHA (R12P)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 329357	NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 166741	NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Maple syrup urine disease +3 more	GPathogenic
Select item 93337	NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +4 more	GBenign/Likely benign
Select item 382383	NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1586164	NM_000709.4(BCKDHA):c.177G>A (p.Ala59=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1786363	NM_000709.4(BCKDHA):c.212A>G (p.Asn71Ser)	BCKDHA (N71S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 392392	NM_000709.4(BCKDHA):c.213C>T (p.Asn71=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1791756	NM_000709.4(BCKDHA):c.246G>A (p.Met82Ile)	BCKDHA (M82I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2330720	NM_000709.4(BCKDHA):c.250C>T (p.Arg84Trp)	BCKDHA (R84W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1796692	NM_000709.4(BCKDHA):c.283C>A (p.Pro95Thr)	BCKDHA (P95T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 93353	NM_000709.4(BCKDHA):c.288C>T (p.His96=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 709510	NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 2238086	NM_000709.4(BCKDHA):c.297G>T (p.Lys99Asn)	BCKDHA (K99N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1729158	NM_000709.4(BCKDHA):c.322A>G (p.Ser108Gly)	BCKDHA (S108G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2058514	NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)	BCKDHA (R127W)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 1930726	NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)	BCKDHA (T133A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 515505	NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 2266911	NM_000709.4(BCKDHA):c.421C>A (p.His141Asn)	BCKDHA (H141N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337700	NM_000709.4(BCKDHA):c.439G>A (p.Ala147Thr)	BCKDHA (A147T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 329363	NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp)	BCKDHA (N150D)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 2448355	NM_000709.4(BCKDHA):c.471G>A (p.Gln157=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2541128	NM_000709.4(BCKDHA):c.505T>C (p.Tyr169His)	BCKDHA (Y169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1154993	NM_000709.4(BCKDHA):c.517C>T (p.Leu173=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 2230997	NM_000709.4(BCKDHA):c.568C>T (p.Gln190Ter)	BCKDHA (Q190*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 736694	NM_000709.4(BCKDHA):c.606C>T (p.Phe202=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 329364	NM_000709.4(BCKDHA):c.648G>T (p.Ala216=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 578797	NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val)	BCKDHA (A219V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1124331	NM_000709.4(BCKDHA):c.660G>A (p.Ala220=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 93368	NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 894372	NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr)	BCKDHA (A222T)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 2050562	NM_000709.4(BCKDHA):c.673C>T (p.Arg225Trp)	BCKDHA (R225W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1093039	NM_000709.4(BCKDHA):c.681T>C (p.Asn227=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3260622	NM_000709.4(BCKDHA):c.686A>G (p.Asn229Ser)	BCKDHA (N229S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 766671	NM_000709.4(BCKDHA):c.693C>T (p.Val231=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 93369	NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 1757140	NM_000709.4(BCKDHA):c.709G>A (p.Gly237Ser)	BCKDHA (G237S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1081301	NM_000709.4(BCKDHA):c.756C>T (p.Phe252=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 652667	NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu)	BCKDHA (F263L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 729265	NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 381845	NM_000709.4(BCKDHA):c.840C>T (p.Arg280=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3232228	NM_000709.4(BCKDHA):c.841G>A (p.Gly281Ser)	BCKDHA (G281S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260623	NM_000709.4(BCKDHA):c.856G>A (p.Ala286Thr)	BCKDHA (A286T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 764670	NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 2509659	NM_000709.4(BCKDHA):c.923A>G (p.Asn308Ser)	BCKDHA (N307S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732140	NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 2195236	NM_000709.4(BCKDHA):c.949G>T (p.Ala317Ser)	BCKDHA (A316S +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 2405769	NM_000709.4(BCKDHA):c.973C>T (p.Leu325Phe)	BCKDHA (L324F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 93383	NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +3 more	GBenign/Likely benign
Select item 1143235	NM_000709.4(BCKDHA):c.999C>T (p.Ile333=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 1533913	NM_000709.4(BCKDHA):c.1053C>T (p.Val351=)	BCKDHA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2258349	NM_000709.4(BCKDHA):c.1078C>T (p.Pro360Ser)	BCKDHA (P360S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1744317	NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)	BCKDHA (A396T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 329367	NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93344	NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	BCKDHA (V412M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 166742	NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 651417	NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)	BCKDHA (A417T +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 1114459	NM_000709.4(BCKDHA):c.1286G>A (p.Arg429His)	BCKDHA (R428H +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 3133366	NM_000709.4(BCKDHA):c.1289A>C (p.His430Pro)	BCKDHA (H430P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546949	NM_000709.4(BCKDHA):c.1296G>C (p.Gln432His)	BCKDHA (Q431H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1112239	NM_000709.4(BCKDHA):c.1308G>A (p.Glu436=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 100009	NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	BCKDHA (Y438N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 719481	NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=)	BCKDHA	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +1 more	GLikely benign
Select item 2534031	NM_000709.4(BCKDHA):c.1330G>A (p.Asp444Asn)	BCKDHA (D443N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 69