Related gene-specific medical variations for Gene (Select 138948) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3016529	NM_000787.4(DBH):c.1665G>A (p.Leu555=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 3014006	NM_000787.4(DBH):c.1563-18G>A	DBH, DBH-AS1	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2897826	NM_000787.4(DBH):c.1499del (p.Leu500fs)	DBH, DBH-AS1 (L500fs)	Deletion (frameshift variant)	Orthostatic hypotension 1	GPathogenic
Select item 2889688	NM_000787.4(DBH):c.1722+15G>C	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2872716	NM_000787.4(DBH):c.1722+11A>G	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2806443	NM_000787.4(DBH):c.1485C>T (p.Tyr495=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
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 2189736	NM_000787.4(DBH):c.1722+18C>T	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2188310	NM_000787.4(DBH):c.1714C>T (p.Arg572Cys)	DBH, DBH-AS1 (R572C)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2166420	NM_000787.4(DBH):c.1646G>T (p.Arg549Leu)	DBH, DBH-AS1 (R549L)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2165189	NM_000787.4(DBH):c.1722+5G>A	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2155828	NM_000787.4(DBH):c.1435-14C>T	DBH-AS1, DBH	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2151619	NM_000787.4(DBH):c.1715G>A (p.Arg572His)	DBH, DBH-AS1 (R572H)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2078250	NM_000787.4(DBH):c.1676C>T (p.Ala559Val)	DBH, DBH-AS1 (A559V)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 2064678	NM_000787.4(DBH):c.1677G>A (p.Ala559=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1 +1 more	GLikely benign
Select item 2058598	NM_000787.4(DBH):c.1453G>A (p.Glu485Lys)	DBH, DBH-AS1 (E485K)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2055796	NM_000787.4(DBH):c.1443C>T (p.Phe481=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 2053830	NM_000787.4(DBH):c.1473C>T (p.Tyr491=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2021465	NM_000787.4(DBH):c.1435-20G>C	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 1969959	NM_000787.4(DBH):c.1511A>G (p.Lys504Arg)	DBH, DBH-AS1 (K504R)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1966358	NM_000787.4(DBH):c.1476G>A (p.Val492=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1942937	NM_000787.4(DBH):c.1662C>A (p.Ala554=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 1934604	NM_000787.4(DBH):c.1515C>T (p.Ser505=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1638750	NM_000787.4(DBH):c.1662C>T (p.Ala554=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 1636891	NM_000787.4(DBH):c.1435-19G>T	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 1617386	NM_000787.4(DBH):c.1524C>T (p.Asp508=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1588828	NM_000787.4(DBH):c.1527C>T (p.Ala509=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1582263	NM_000787.4(DBH):c.1494G>A (p.Thr498=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1579144	NM_000787.4(DBH):c.1435-18G>A	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 1552055	NM_000787.4(DBH):c.1671C>T (p.Ser557=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 1545829	NM_000787.4(DBH):c.1701G>A (p.Lys567=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 1523351	NM_000787.4(DBH):c.1435-20G>A	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GLikely benign
Select item 1517662	NM_000787.4(DBH):c.1553TCA[1] (p.Ile519del)	DBH, DBH-AS1 (I519del)	Microsatellite (inframe_deletion)	Orthostatic hypotension 1	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 1514860	NM_000787.4(DBH):c.1648G>A (p.Asp550Asn)	DBH, DBH-AS1 (D550N)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 1481325	NM_000787.4(DBH):c.1692_1696del (p.His564fs)	DBH, DBH-AS1 (H564fs)	Deletion (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GUncertain significance
Select item 1428650	NM_000787.4(DBH):c.1610A>C (p.Gln537Pro)	DBH, DBH-AS1 (Q537P)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1405467	NM_000787.4(DBH):c.1498C>G (p.Leu500Val)	DBH, DBH-AS1 (L500V)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
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 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 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 1143860	NM_000787.4(DBH):c.1602C>T (p.Ser534=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1115147	NM_000787.4(DBH):c.1541A>G (p.Lys514Arg)	DBH, DBH-AS1 (K514R)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GLikely benign
Select item 999924	NM_000787.4(DBH):c.1528G>A (p.Gly510Ser)	DBH, DBH-AS1 (G510S)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 984400	NM_000787.4(DBH):c.1486C>T (p.Pro496Ser)	DBH, DBH-AS1 (P496S)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 912369	NM_000787.4(DBH):c.1722+13G>T	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GConflicting classifications of pathogenicity
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 912367	NM_000787.4(DBH):c.1643A>G (p.Asn548Ser)	DBH, DBH-AS1 (N548S)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	GConflicting classifications of pathogenicity
Select item 791717	NM_000787.4(DBH):c.1539G>A (p.Gln513=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GBenign
Select item 750958	NM_000787.4(DBH):c.1656G>A (p.Leu552=)	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 745494	NM_000787.4(DBH):c.1562+8C>G	DBH, DBH-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 731699	NM_000787.4(DBH):c.1563-6dup	DBH-AS1, DBH	Duplication (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 639542	NM_000787.4(DBH):c.1546T>C (p.Phe516Leu)	DBH, DBH-AS1 (F516L)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
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 365672	NM_000787.4(DBH):c.1722+4C>T	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	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 365670	NM_000787.4(DBH):c.1599G>A (p.Ala533=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1 +1 more	GConflicting classifications of pathogenicity
Select item 365669	NM_000787.4(DBH):c.1572C>T (p.Asn524=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 365668	NM_000787.4(DBH):c.1563-3C>T	DBH, DBH-AS1	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GUncertain significance
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 365666	NM_000787.4(DBH):c.1557C>T (p.Ile519=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GUncertain significance
Select item 365665	NM_000787.4(DBH):c.1556T>C (p.Ile519Thr)	DBH, DBH-AS1 (I519T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 365664	NM_000787.4(DBH):c.1516G>A (p.Ala506Thr)	DBH, DBH-AS1 (A506T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 365663	NM_000787.4(DBH):c.1493C>T (p.Thr498Met)	DBH, DBH-AS1 (T498M)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	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 217766	NM_000787.4(DBH):c.1667A>G (p.Tyr556Cys)	DBH, DBH-AS1 (Y556C)	Single nucleotide variant (non-coding transcript variant +1 more)	Orthostatic hypotension 1	Gnot provided

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Items: 70