"PreventionGenetics, part of Exact Sciences"[submitter] AND "DBH"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041559	NC_000009.12:g.133630108C>T	DBH	Single nucleotide variant	DBH-related disorder	GBenign
Select item 365634	NM_000787.4(DBH):c.263G>C (p.Gly88Ala)	DBH (G88A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 710801	NM_000787.4(DBH):c.624C>T (p.Pro208=)	DBH	Single nucleotide variant (synonymous variant)	DBH-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 365641	NM_000787.4(DBH):c.631G>A (p.Ala211Thr)	DBH (A211T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 365647	NM_000787.4(DBH):c.807C>T (p.Cys269=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1 +1 more	GConflicting classifications of pathogenicity
Select item 365652	NM_000787.4(DBH):c.952G>T (p.Ala318Ser)	DBH (A318S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 773786	NM_000787.4(DBH):c.985C>T (p.Arg329Cys)	DBH (R329C)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GLikely benign
Select item 365654	NM_000787.4(DBH):c.1024+9C>T	DBH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 770957	NM_000787.4(DBH):c.1085C>T (p.Ala362Val)	DBH (A362V)	Single nucleotide variant (missense variant)	DBH-related disorder +1 more	GLikely benign
Select item 1116478	NM_000787.4(DBH):c.1116G>A (p.Thr372=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1 +1 more	GLikely benign
Select item 529771	NM_000787.4(DBH):c.1434G>A (p.Val478=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1 +1 more	GConflicting classifications of pathogenicity
Select item 529773	NM_000787.4(DBH):c.1444G>A (p.Gly482Arg)	DBH, DBH-AS1 (G482R)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1 +2 more	GConflicting classifications of pathogenicity
Select item 2053830	NM_000787.4(DBH):c.1473C>T (p.Tyr491=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1 +1 more	GConflicting classifications of pathogenicity
Select item 1115147	NM_000787.4(DBH):c.1541A>G (p.Lys514Arg)	DBH, DBH-AS1 (K514R)	Single nucleotide variant (missense variant)	DBH-related disorder +1 more	GLikely benign
Select item 365670	NM_000787.4(DBH):c.1599G>A (p.Ala533=)	DBH-AS1, DBH	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1552055	NM_000787.4(DBH):c.1671C>T (p.Ser557=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DBH-related disorder +1 more	GLikely benign
Select item 365673	NM_000787.4(DBH):c.1734C>T (p.Asn578=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1 +1 more	GBenign
Select item 715395	NM_000787.4(DBH):c.1735C>T (p.Leu579=)	DBH	Single nucleotide variant (synonymous variant)	DBH-related disorder +1 more	GBenign/Likely benign