"Ambry Genetics"[submitter] AND "DBT"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2248266	NM_001918.5(DBT):c.1366G>A (p.Asp456Asn)	DBT (D275N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473598	NM_001918.5(DBT):c.1286T>G (p.Ile429Ser)	DBT (I248S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 965930	NM_001918.5(DBT):c.1281+5A>G	DBT	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 1939334	NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)	DBT (T407A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3080218	NM_001918.5(DBT):c.1168G>C (p.Asp390His)	DBT (D209H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1045029	NM_001918.5(DBT):c.836G>T (p.Cys279Phe)	DBT (C279F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2244335	NM_001918.5(DBT):c.719T>C (p.Leu240Pro)	DBT (L240P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3080220	NM_001918.5(DBT):c.641G>A (p.Gly214Glu)	DBT (G214E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 966854	NM_001918.5(DBT):c.572T>G (p.Val191Gly)	DBT (V191G)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 1911824	NM_001918.5(DBT):c.512C>T (p.Thr171Ile)	DBT (T171I)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease +2 more	GUncertain significance
Select item 1389784	NM_001918.5(DBT):c.451G>A (p.Val151Ile)	DBT (V151I)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GUncertain significance
Select item 2230144	NM_001918.5(DBT):c.379G>C (p.Asp127His)	DBT (D127H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2147211	NM_001918.5(DBT):c.292A>G (p.Ile98Val)	DBT (I98V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2163984	NM_001918.5(DBT):c.182G>A (p.Arg61His)	DBT (R61H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 728290	NM_001918.5(DBT):c.62G>A (p.Arg21His)	DBT (R21H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity