DBH-AS1[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2897826	NM_000787.4(DBH):c.1499del (p.Leu500fs)	DBH, DBH-AS1 (L500fs)	Deletion (frameshift variant)	Orthostatic hypotension 1	GPathogenic
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 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 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 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 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 791717	NM_000787.4(DBH):c.1539G>A (p.Gln513=)	DBH, DBH-AS1	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GBenign
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 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 1517662	NM_000787.4(DBH):c.1553TCA[1] (p.Ile519del)	DBH, DBH-AS1 (I519del)	Microsatellite (inframe_deletion)	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 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 745494	NM_000787.4(DBH):c.1562+8C>G	DBH, DBH-AS1	Single nucleotide variant (intron variant)	Orthostatic hypotension 1 +1 more	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 731699	NM_000787.4(DBH):c.1563-6dup	DBH, DBH-AS1	Duplication (intron variant)	Orthostatic hypotension 1	GLikely benign
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 365668	NM_000787.4(DBH):c.1563-3C>T	DBH, DBH-AS1	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 1283059	NM_000787.4(DBH):c.1722+75T>C	DBH, DBH-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 95