"Ambry Genetics"[submitter] AND "DBH"[gene] - ClinVar

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

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2337866	NM_000787.4(DBH):c.7G>T (p.Ala3Ser)	DBH (A3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 948709	NM_000787.4(DBH):c.17G>A (p.Arg6His)	DBH (R6H)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 914992	NM_000787.4(DBH):c.128G>A (p.Arg43His)	DBH (R43H)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2243151	NM_000787.4(DBH):c.146A>T (p.Tyr49Phe)	DBH (Y49F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2142096	NM_000787.4(DBH):c.236G>A (p.Arg79Gln)	DBH (R79Q)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 365632	NM_000787.4(DBH):c.253G>A (p.Val85Ile)	DBH (V85I)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 3270923	NM_000787.4(DBH):c.257T>A (p.Leu86Gln)	DBH (L86Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424294	NM_000787.4(DBH):c.271G>A (p.Asp91Asn)	DBH (D91N)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 1493996	NM_000787.4(DBH):c.274C>T (p.Arg92Cys)	DBH (R92C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2331327	NM_000787.4(DBH):c.290A>G (p.Asn97Ser)	DBH (N97S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2149424	NM_000787.4(DBH):c.337G>T (p.Ala113Ser)	DBH (A113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2285225	NM_000787.4(DBH):c.382C>T (p.Gln128Ter)	DBH (Q128*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 365636	NM_000787.4(DBH):c.407T>C (p.Val136Ala)	DBH (V136A)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GConflicting classifications of pathogenicity
Select item 2243252	NM_000787.4(DBH):c.461G>A (p.Cys154Tyr)	DBH (C154Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603133	NM_000787.4(DBH):c.467C>T (p.Pro156Leu)	DBH (P156L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 529772	NM_000787.4(DBH):c.490G>A (p.Gly164Ser)	DBH (G164S)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 3080168	NM_000787.4(DBH):c.527C>T (p.Pro176Leu)	DBH (P176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457729	NM_000787.4(DBH):c.553G>A (p.Gly185Ser)	DBH (G185S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 647065	NM_000787.4(DBH):c.583G>A (p.Val195Met)	DBH (V195M)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 3080169	NM_000787.4(DBH):c.630C>A (p.Asp210Glu)	DBH (D210E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914523	NM_000787.4(DBH):c.717G>C (p.Lys239Asn)	DBH (K239N)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 1507427	NM_000787.4(DBH):c.728G>A (p.Arg243Gln)	DBH (R243Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1401102	NM_000787.4(DBH):c.744+4del	DBH	Deletion (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1378698	NM_000787.4(DBH):c.757G>A (p.Val253Ile)	DBH (V253I)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GConflicting classifications of pathogenicity
Select item 2277120	NM_000787.4(DBH):c.772G>A (p.Glu258Lys)	DBH (E258K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 365646	NM_000787.4(DBH):c.776C>T (p.Ala259Val)	DBH (A259V)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2541521	NM_000787.4(DBH):c.832C>T (p.His278Tyr)	DBH (H278Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080170	NM_000787.4(DBH):c.871C>A (p.Arg291Ser)	DBH (R291S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274906	NM_000787.4(DBH):c.871C>T (p.Arg291Cys)	DBH (R291C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 840925	NM_000787.4(DBH):c.958G>A (p.Gly320Arg)	DBH (G320R)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2547178	NM_000787.4(DBH):c.968G>T (p.Gly323Val)	DBH (G323V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302079	NM_000787.4(DBH):c.968G>A (p.Gly323Glu)	DBH (G323E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531402	NM_000787.4(DBH):c.986G>A (p.Arg329His)	DBH (R329H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1420176	NM_000787.4(DBH):c.1030A>C (p.Asn344His)	DBH (N344H)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GConflicting classifications of pathogenicity
Select item 2239974	NM_000787.4(DBH):c.1064C>G (p.Ala355Gly)	DBH (A355G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069384	NM_000787.4(DBH):c.1115C>T (p.Thr372Met)	DBH (T372M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1045487	NM_000787.4(DBH):c.1133C>T (p.Pro378Leu)	DBH (P378L)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2072137	NM_000787.4(DBH):c.1138C>T (p.Arg380Trp)	DBH (R380W)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 3080163	NM_000787.4(DBH):c.1147G>A (p.Ala383Thr)	DBH (A383T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 913445	NM_000787.4(DBH):c.1148C>T (p.Ala383Val)	DBH (A383V)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2297265	NM_000787.4(DBH):c.1156_1158del (p.Leu386del)	DBH (L386del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3080164	NM_000787.4(DBH):c.1163G>A (p.Gly388Asp)	DBH (G388D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459653	NM_000787.4(DBH):c.1165T>G (p.Tyr389Asp)	DBH (Y389D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1023979	NM_000787.4(DBH):c.1172C>A (p.Thr391Lys)	DBH (T391K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2337739	NM_000787.4(DBH):c.1177A>G (p.Lys393Glu)	DBH (K393E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386226	NM_000787.4(DBH):c.1221C>G (p.Phe407Leu)	DBH (F407L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 913824	NM_000787.4(DBH):c.1286G>A (p.Arg429Gln)	DBH (R429Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2163711	NM_000787.4(DBH):c.1328A>G (p.His443Arg)	DBH (H443R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1938326	NM_000787.4(DBH):c.1357G>T (p.Val453Phe)	DBH (V453F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1422704	NM_000787.4(DBH):c.1360G>A (p.Val454Met)	DBH (V454M)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2381442	NM_000787.4(DBH):c.1364C>T (p.Ser455Leu)	DBH (S455L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318236	NM_000787.4(DBH):c.1379A>T (p.Asp460Val)	DBH (D460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355371	NM_000787.4(DBH):c.1417C>T (p.Arg473Trp)	DBH (R473W)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 1359783	NM_000787.4(DBH):c.1418G>A (p.Arg473Gln)	DBH (R473Q)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 365662	NM_000787.4(DBH):c.1451T>C (p.Leu484Pro)	DBH, DBH-AS1 (L484P)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2526315	NM_000787.4(DBH):c.1576G>A (p.Asp526Asn)	DBH, DBH-AS1 (D526N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211351	NM_000787.4(DBH):c.1592C>G (p.Pro531Arg)	DBH, DBH-AS1 (P531R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080165	NM_000787.4(DBH):c.1603G>A (p.Val535Met)	DBH, DBH-AS1 (V535M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080166	NM_000787.4(DBH):c.1627C>T (p.Pro543Ser)	DBH, DBH-AS1 (P543S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1517613	NM_000787.4(DBH):c.1646G>A (p.Arg549His)	DBH, DBH-AS1 (R549H)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 3270921	NM_000787.4(DBH):c.1651G>A (p.Val551Ile)	DBH, DBH-AS1 (V551I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 912368	NM_000787.4(DBH):c.1688T>C (p.Met563Thr)	DBH, DBH-AS1 (M563T)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 2469901	NM_000787.4(DBH):c.1754T>G (p.Val585Gly)	DBH (V585G)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GLikely benign
Select item 3080167	NM_000787.4(DBH):c.1778C>T (p.Thr593Ile)	DBH (T593I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 365675	NM_000787.4(DBH):c.1825G>A (p.Val609Ile)	DBH (V609I)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GConflicting classifications of pathogenicity
Select item 2480061	NM_000787.4(DBH):c.1831A>G (p.Ser611Gly)	DBH (S611G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221715	NM_000787.4(DBH):c.1832G>A (p.Ser611Asn)	DBH (S611N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 365676	NM_000787.4(DBH):c.1835T>C (p.Ile612Thr)	DBH (I612T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GUncertain significance
Select item 365677	NM_000787.4(DBH):c.1840G>A (p.Gly614Arg)	DBH (G614R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 69