"Counsyl"[submitter] AND "BCKDHA"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556147	NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile)	BCKDHA (M1I)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 550872	NM_000709.3(BCKDHA):c.111_122del12	BCKDHA	Deletion	Maple syrup urine disease	GUncertain significance
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 93342	NM_000709.4(BCKDHA):c.117del (p.Arg40fs)	BCKDHA (R40fs)	Deletion (frameshift variant)	Maple syrup urine disease +2 more	GPathogenic
Select item 555859	NM_000709.4(BCKDHA):c.121CAG[5] (p.Gln44dup)	BCKDHA	Microsatellite (inframe_insertion)	Maple syrup urine disease	GUncertain significance
Select item 550878	NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)	BCKDHA (Q43*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 370729	NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	BCKDHA (S46*)	Single nucleotide variant (nonsense)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 553759	NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)	BCKDHA (R159W)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 552984	NM_000709.4(BCKDHA):c.500G>A (p.Arg167Gln)	BCKDHA (R167Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 551071	NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp)	BCKDHA (G188W)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 93365	NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	BCKDHA (T211M)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 93367	NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	BCKDHA (A220V)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 558389	NM_000709.4(BCKDHA):c.718del (p.Ala240fs)	BCKDHA (A240fs)	Deletion (frameshift variant)	Maple syrup urine disease type 1A +1 more	GPathogenic
Select item 558191	NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	BCKDHA (A253T)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 556887	NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)	BCKDHA (R265P)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 93375	NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	BCKDHA (A285P)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 553830	NM_000709.4(BCKDHA):c.853+1G>T	BCKDHA	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 553989	NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)	BCKDHA (R287* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease +1 more	GPathogenic
Select item 198433	NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)	BCKDHA (G288fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 2377	NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	BCKDHA (G289R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555477	NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)	BCKDHA (R297C +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +2 more	GConflicting classifications of pathogenicity
Select item 93376	NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	BCKDHA (R297H +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 554265	NM_000709.4(BCKDHA):c.892G>A (p.Val298Met)	BCKDHA (V298M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 224072	NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)	BCKDHA (R314* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease +1 more	GPathogenic
Select item 93385	NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)	BCKDHA (E327K +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 556053	NM_000709.4(BCKDHA):c.992dup (p.Tyr331Ter)	BCKDHA (Y330* +1 more)	Duplication (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 557703	NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	BCKDHA (H335fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 93335	NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	BCKDHA (R346C +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +3 more	GConflicting classifications of pathogenicity
Select item 93336	NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	BCKDHA (R346H +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 558581	NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)	BCKDHA (R363W +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 557583	NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)	BCKDHA (W373* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 556511	NM_000709.4(BCKDHA):c.1167+1del	BCKDHA	Deletion (splice donor variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 431986	NM_000709.4(BCKDHA):c.1168-2A>G	BCKDHA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553717	NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter)	BCKDHA (E398* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 204379	NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)	BCKDHA (K400* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic/Likely pathogenic
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 553458	NM_000709.4(BCKDHA):c.1267CAG[1] (p.Gln424del)	BCKDHA (Q424del +1 more)	Microsatellite (inframe_deletion)	Maple syrup urine disease	GUncertain significance
Select item 557742	NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)	BCKDHA	Deletion (inframe_indel)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 100009	NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	BCKDHA (Y438N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 550781	NM_000709.4(BCKDHA):c.*223T>A	BCKDHA	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance

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Items: 40