2689[HGNC] - ClinVar - NCBI

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	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 3041559	NC_000009.12:g.133630108C>T	DBH	Single nucleotide variant	DBH-related disorder	GBenign
Select item 217757	NC_000009.11:g.136496870_136496871(11_15)	DBH	Microsatellite	Orthostatic hypotension 1	GBenign
Select item 217759	NM_000787.3(DBH):c.-979T>C	DBH	Single nucleotide variant	Orthostatic hypotension 1	Gnot provided
Select item 1749	NC_000009.12:g.133635393=	DBH	Single nucleotide variant	Dopamine beta-hydroxylase polymorphism	Gassociation
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 1945301	NM_000787.4(DBH):c.10C>T (p.Leu4Phe)	DBH (L4F)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 914483	NM_000787.4(DBH):c.16C>A (p.Arg6Ser)	DBH (R6S)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	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 1487845	NM_000787.4(DBH):c.26G>A (p.Ser9Asn)	DBH (S9N)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2912162	NM_000787.4(DBH):c.33C>T (p.Pro11=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1406642	NM_000787.4(DBH):c.47G>A (p.Arg16Gln)	DBH (R16Q)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 914484	NM_000787.4(DBH):c.61A>G (p.Met21Val)	DBH (M21V)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 3003641	NM_000787.4(DBH):c.62T>G (p.Met21Arg)	DBH (M21R)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1474963	NM_000787.4(DBH):c.62T>C (p.Met21Thr)	DBH (M21T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 779694	NM_000787.4(DBH):c.76G>A (p.Val26Met)	DBH (V26M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1912525	NM_000787.4(DBH):c.87C>T (p.Phe29=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 726248	NM_000787.4(DBH):c.88C>T (p.Leu30=)	DBH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 365630	NM_000787.4(DBH):c.105C>T (p.Ala35=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GBenign/Likely benign
Select item 1422926	NM_000787.4(DBH):c.106G>A (p.Ala36Thr)	DBH (A36T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1580887	NM_000787.4(DBH):c.120G>A (p.Ser40=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
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 565924	NM_000787.4(DBH):c.146A>G (p.Tyr49Cys)	DBH (Y49C)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 914993	NM_000787.4(DBH):c.153C>G (p.Ile51Met)	DBH (I51M)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 718866	NM_000787.4(DBH):c.165G>A (p.Pro55=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GConflicting classifications of pathogenicity
Select item 2199880	NM_000787.4(DBH):c.183C>T (p.Leu61=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1661896	NM_000787.4(DBH):c.204C>A (p.Thr68=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1078599	NM_000787.4(DBH):c.209A>G (p.Glu70Gly)	DBH (E70G)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GLikely benign
Select item 2001071	NM_000787.4(DBH):c.217C>T (p.His73Tyr)	DBH (H73Y)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1938765	NM_000787.4(DBH):c.224A>C (p.Gln75Pro)	DBH (Q75P)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1602467	NM_000787.4(DBH):c.228C>G (p.Leu76=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1436077	NM_000787.4(DBH):c.231G>A (p.Leu77=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GUncertain significance
Select item 365631	NM_000787.4(DBH):c.235C>T (p.Arg79Trp)	DBH (R79W)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1 +1 more	GBenign/Likely benign
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 2139470	NM_000787.4(DBH):c.237G>A (p.Arg79=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1409262	NM_000787.4(DBH):c.245A>G (p.Lys82Arg)	DBH (K82R)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	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 365633	NM_000787.4(DBH):c.259T>C (p.Phe87Leu)	DBH (F87L)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 365634	NM_000787.4(DBH):c.263G>C (p.Gly88Ala)	DBH (G88A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1570788	NM_000787.4(DBH):c.270C>T (p.Ser90=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
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 1012071	NM_000787.4(DBH):c.275G>A (p.Arg92His)	DBH (R92H)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2151514	NM_000787.4(DBH):c.279C>T (p.Gly93=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
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 750427	NM_000787.4(DBH):c.291C>T (p.Asn97=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GConflicting classifications of pathogenicity
Select item 1361209	NM_000787.4(DBH):c.299T>C (p.Leu100Pro)	DBH (L100P)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1635991	NM_000787.4(DBH):c.300C>T (p.Leu100=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 217761	NM_000787.4(DBH):c.301G>A (p.Val101Met)	DBH (V101M)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1752	NM_000787.3(DBH):c.[301G>A;1033G>A]	DBH (V101M +1 more)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GPathogenic
Select item 791716	NM_000787.4(DBH):c.315C>T (p.Thr105=)	DBH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1439507	NM_000787.4(DBH):c.316G>A (p.Asp106Asn)	DBH (D106N)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 709486	NM_000787.4(DBH):c.322G>T (p.Asp108Tyr)	DBH (D108Y)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GLikely benign
Select item 2195694	NM_000787.4(DBH):c.326C>T (p.Thr109Ile)	DBH (T109I)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	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 2056670	NM_000787.4(DBH):c.338C>T (p.Ala113Val)	DBH (A113V)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 1449733	NM_000787.4(DBH):c.339G>A (p.Ala113=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GUncertain significance
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 1659159	NM_000787.4(DBH):c.340-18C>A	DBH	Single nucleotide variant (intron variant)	Orthostatic hypotension 1	GLikely benign
Select item 2083122	NM_000787.4(DBH):c.342C>T (p.Asp114=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1751	NM_000787.4(DBH):c.342C>A (p.Asp114Glu)	DBH (D114E)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2081181	NM_000787.4(DBH):c.343G>A (p.Ala115Thr)	DBH (A115T)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 714636	NM_000787.4(DBH):c.354C>T (p.Asp118=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GConflicting classifications of pathogenicity
Select item 365635	NM_000787.4(DBH):c.363G>A (p.Gly121=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GUncertain significance
Select item 574917	NM_000787.4(DBH):c.380C>T (p.Pro127Leu)	DBH (P127L)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 712036	NM_000787.4(DBH):c.381C>T (p.Pro127=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
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 1670554	NM_000787.4(DBH):c.408G>A (p.Val136=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 1439912	NM_000787.4(DBH):c.418C>T (p.Pro140Ser)	DBH (P140S)	Single nucleotide variant (missense variant)	Orthostatic hypotension 1	GUncertain significance
Select item 2758619	NM_000787.4(DBH):c.429G>C (p.Leu143=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GLikely benign
Select item 913040	NM_000787.4(DBH):c.450C>T (p.Pro150=)	DBH	Single nucleotide variant (synonymous variant)	Orthostatic hypotension 1	GUncertain significance

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