"GeneDx"[submitter] AND "DBH"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1750	NM_000787.4(DBH):c.339+2T>C	DBH	Single nucleotide variant (splice donor variant)	Orthostatic hypotension 1 +1 more	GPathogenic
Select item 1282926	NM_000787.4(DBH):c.339+109G>C	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235638	NM_000787.4(DBH):c.340-45C>T	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 217758	NM_000787.4(DBH):c.486A>G (p.Glu162=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1 +1 more	GBenign
Select item 365637	NM_000787.4(DBH):c.486+13C>T	DBH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1258192	NM_000787.4(DBH):c.486+127A>G	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281173	NM_000787.4(DBH):c.487-28G>A	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 365640	NM_000787.4(DBH):c.602A>G (p.Asn201Ser)	DBH (N201S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 365641	NM_000787.4(DBH):c.631G>A (p.Ala211Thr)	DBH (A211T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1233304	NM_000787.4(DBH):c.744+50C>T	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257835	NM_000787.4(DBH):c.744+156A>G	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 365650	NM_000787.4(DBH):c.868G>A (p.Asp290Asn)	DBH (D290N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1294989	NM_000787.4(DBH):c.921+53C>T	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286999	NM_000787.4(DBH):c.921+189T>G	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273695	NM_000787.4(DBH):c.922-65G>T	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246402	NM_000787.4(DBH):c.922-28C>T	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1 +1 more	GBenign
Select item 365652	NM_000787.4(DBH):c.952G>T (p.Ala318Ser)	DBH (A318S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 365653	NM_000787.4(DBH):c.1024+6C>G	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1 +1 more	GBenign
Select item 365654	NM_000787.4(DBH):c.1024+9C>T	DBH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1246178	NM_000787.4(DBH):c.1024+72G>A	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294742	NM_000787.4(DBH):c.1024+146C>T	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264501	NM_000787.4(DBH):c.1024+179C>T	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240982	NM_000787.4(DBH):c.1024+192T>C	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252729	NM_000787.4(DBH):c.1024+237C>G	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236845	NM_000787.4(DBH):c.1025-62G>A	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286653	NM_000787.4(DBH):c.1191+49T>C	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294707	NM_000787.4(DBH):c.1191+69C>G	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280518	NM_000787.4(DBH):c.1192-186C>A	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281615	NM_000787.4(DBH):c.1192-181G>A	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 365660	NM_000787.4(DBH):c.1335+13A>G	DBH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1251167	NM_000787.4(DBH):c.1335+110T>C	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221822	NM_000787.4(DBH):c.1335+164GGTGTCT[3]	DBH	Microsatellite (intron variant)	not provided	GBenign
Select item 1262080	NM_000787.4(DBH):c.1335+223G>A	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252178	NM_000787.4(DBH):c.1336-222A>C	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270409	NM_000787.4(DBH):c.1336-219A>G	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239552	NM_000787.4(DBH):c.1336-217C>G	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273078	NM_000787.4(DBH):c.1375-80G>A	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231987	NM_000787.4(DBH):c.1375-54G>A	DBH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 365661	NM_000787.4(DBH):c.1410A>G (p.Thr470=)	DBH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1232562	NM_000787.4(DBH):c.1435-85T>C	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1269946	NM_000787.4(DBH):c.1435-48C>T	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 +1 more	GConflicting classifications of pathogenicity
Select item 365667	NM_000787.4(DBH):c.1563-5A>G	DBH, DBH-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 365671	NM_000787.4(DBH):c.1645C>T (p.Arg549Cys)	DBH, DBH-AS1 (R549C)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1 +1 more	GBenign
Select item 1283059	NM_000787.4(DBH):c.1722+75T>C	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1260652	NM_000787.4(DBH):c.1722+180GAGAGAGGA[4]	DBH	Microsatellite (intron variant)	not provided	GBenign
Select item 1247473	NM_000787.4(DBH):c.1722+202dup	DBH	Duplication (intron variant)	not provided	GBenign
Select item 1257573	NM_000787.4(DBH):c.1722+204_1722+205insA	DBH	Insertion (intron variant)	not provided	GBenign
Select item 1247468	NM_000787.4(DBH):c.1722+207_1722+209dup	DBH	Duplication (intron variant)	not provided	GBenign
Select item 449010	NM_000787.4(DBH):c.1804C>T (p.Arg602Ter)	DBH (R602*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 365678	NM_000787.4(DBH):c.*100C>T	DBH	Single nucleotide variant (3 prime UTR variant)	Orthostatic hypotension 1 +1 more	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 52