"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BCKDHA"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 385661	NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 93355	NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)	BCKDHA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 166741	NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)	BCKDHA (R40fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 93342	NM_000709.4(BCKDHA):c.117del (p.Arg40fs)	BCKDHA (R40fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1434038	NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys)	BCKDHA (E93K)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 93356	NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)	BCKDHA (R124W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1499436	NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile)	BCKDHA (M165I)	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)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 558389	NM_000709.4(BCKDHA):c.718del (p.Ala240fs)	BCKDHA (A240fs)	Deletion (frameshift variant)	Maple syrup urine disease	GPathogenic
Select item 93375	NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	BCKDHA (A285P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 198433	NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)	BCKDHA (G288fs +1 more)	Deletion (frameshift variant)	Maple syrup urine disease type 1A +2 more	GPathogenic
Select item 973118	NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln)	BCKDHA (R314Q +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 1309308	NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp)	BCKDHA (R315W +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 93336	NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	BCKDHA (R346H +1 more)	Single nucleotide variant (missense variant)	not provided +1 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	GConflicting classifications of pathogenicity
Select item 514918	NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)	BCKDHA	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 93344	NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	BCKDHA (V412M +1 more)	Single nucleotide variant (missense variant)	Maple syrup urine disease +3 more	GPathogenic/Likely pathogenic
Select item 199035	NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe)	BCKDHA (S426F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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

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Items: 22