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

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93349	NM_000709.4(BCKDHA):c.14del (p.Ile5fs)	BCKDHA (I5fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2445876	NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)	BCKDHA (W11*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 1075969	NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
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 3240915	NM_000709.4(BCKDHA):c.116_117insA (p.Arg40fs)	BCKDHA (R40fs)	Insertion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 3240916	NM_000709.4(BCKDHA):c.118dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
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 3240914	NM_000709.4(BCKDHA):c.131_133dup (p.Phe45Ter)	BCKDHA (F45*)	Duplication (nonsense)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 2680122	NM_000709.4(BCKDHA):c.136del (p.Ser46fs)	BCKDHA (S46fs)	Deletion (frameshift variant)	Maple syrup urine disease	GLikely 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 522650	NM_000709.4(BCKDHA):c.143del (p.Leu48fs)	BCKDHA (L48fs)	Deletion (frameshift variant)	Maple syrup urine disease type 1A +1 more	GPathogenic
Select item 2680123	NM_000709.4(BCKDHA):c.164del (p.Pro55fs)	BCKDHA (P55fs)	Deletion (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
Select item 984330	NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter)	BCKDHA (E66*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 93351	NM_000709.4(BCKDHA):c.288+1G>A	BCKDHA	Single nucleotide variant (splice donor variant)	Maple syrup urine disease +2 more	GPathogenic
Select item 93352	NM_000709.4(BCKDHA):c.288+9C>T	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 2680117	NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro)	BCKDHA (L103P)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely pathogenic
Select item 457143	NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)	BCKDHA (R117C)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GLikely pathogenic
Select item 93356	NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)	BCKDHA (R124W)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +2 more	GPathogenic/Likely pathogenic
Select item 3240912	NM_000709.4(BCKDHA):c.376-2A>C	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 2680116	NM_000709.4(BCKDHA):c.376-2A>G	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2680115	NM_000709.4(BCKDHA):c.376-1G>A	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2680111	NM_000709.4(BCKDHA):c.397del (p.Thr133fs)	BCKDHA (T133fs)	Deletion (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2680124	NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)	BCKDHA (G143fs)	Duplication (frameshift variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 204378	NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln)	BCKDHA (R159Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GPathogenic
Select item 2680113	NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)	BCKDHA (G162D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1973712	NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)	BCKDHA (Y169*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 517592	NM_000709.4(BCKDHA):c.511del (p.Leu171fs)	BCKDHA (L171fs)	Deletion (frameshift variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 2680126	NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)	BCKDHA (Q177*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 2680118	NM_000709.4(BCKDHA):c.564dup (p.Arg189fs)	BCKDHA (R189fs)	Duplication (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
Select item 93365	NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	BCKDHA (T211M)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +2 more	GPathogenic/Likely pathogenic
Select item 431985	NM_000709.4(BCKDHA):c.647-1G>C	BCKDHA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1323975	NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	BCKDHA (A216V)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 203638	NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)	BCKDHA (Y221fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 93367	NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	BCKDHA (A220V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1423652	NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)	BCKDHA	Deletion (nonsense)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 3240913	NM_000709.4(BCKDHA):c.673del (p.Arg225fs)	BCKDHA (R225fs)	Deletion (frameshift variant)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 983563	NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)	BCKDHA (E238*)	Single nucleotide variant (nonsense)	Maple syrup urine disease type 1A +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 2380	NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	BCKDHA (G249S)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GLikely pathogenic
Select item 2680121	NM_000709.4(BCKDHA):c.746_747del (p.Gly249fs)	BCKDHA (G249fs)	Deletion (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
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 93371	NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)	BCKDHA (A254D)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 2379	NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	BCKDHA (R265W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1065902	NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)	BCKDHA (R265Q)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 2680114	NM_000709.4(BCKDHA):c.797_798delinsT (p.Asn266fs)	BCKDHA (N266fs)	Indel (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2138298	NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)	BCKDHA (N267S)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 1499283	NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr)	BCKDHA (A270T)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GLikely pathogenic
Select item 2157299	NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)	BCKDHA (Y279fs)	Deletion (frameshift variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 93375	NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	BCKDHA (A285P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2175355	NM_000709.4(BCKDHA):c.853+2T>C	BCKDHA	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 500713	NM_000709.4(BCKDHA):c.854-2A>G	BCKDHA	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GPathogenic
Select item 1334170	NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)	BCKDHA (R286G +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
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)	not provided +2 more	GConflicting classifications of pathogenicity
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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2680112	NM_000709.4(BCKDHA):c.993C>G (p.Tyr331Ter)	BCKDHA (Y330* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 1929553	NM_000709.4(BCKDHA):c.995+1G>A	BCKDHA	Single nucleotide variant (splice donor variant)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 1700433	NM_000709.4(BCKDHA):c.996-26A>G	BCKDHA	Single nucleotide variant (intron variant)	Maple syrup urine disease type 1A +3 more	GConflicting classifications of pathogenicity
Select item 1493182	NM_000709.4(BCKDHA):c.996-2A>G	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 2680120	NM_000709.4(BCKDHA):c.996-1G>A	BCKDHA	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 1A	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 3240917	NM_000709.4(BCKDHA):c.1032_1035del (p.Tyr345fs)	BCKDHA (Y344fs +1 more)	Deletion (frameshift variant)	Maple syrup urine disease type 1A	GLikely 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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 936117	NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)	BCKDHA (W354* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	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 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 2680127	NM_000709.4(BCKDHA):c.1179_1180del (p.Ala393_Phe394insTer)	BCKDHA	Deletion (frameshift variant)	Maple syrup urine disease	GLikely 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 2680119	NM_000709.4(BCKDHA):c.1238A>G (p.Tyr413Cys)	BCKDHA (Y412C +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GLikely pathogenic
Select item 1723318	NM_000709.4(BCKDHA):c.1255C>T (p.Gln419Ter)	BCKDHA (Q418* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
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 1072888	NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)	BCKDHA (E435* +1 more)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 93347	NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)	BCKDHA (H437fs +1 more)	Deletion (frameshift variant)	Maple syrup urine disease type 1A +2 more	GPathogenic
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

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Items: 81