ADRB1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 717168	NM_000684.3(ADRB1):c.14T>C (p.Val5Ala)	ADRB1 (V5A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2221373	NM_000684.3(ADRB1):c.70G>C (p.Asp24His)	ADRB1 (D24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376162	NM_000684.3(ADRB1):c.71A>C (p.Asp24Ala)	ADRB1 (D24A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529370	NM_000684.3(ADRB1):c.83C>G (p.Thr28Ser)	ADRB1 (T28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090925	NM_000684.3(ADRB1):c.122C>G (p.Ser41Trp)	ADRB1 (S41W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17747	NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly)	ADRB1 (S49G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3090941	NM_000684.3(ADRB1):c.173C>T (p.Thr58Ile)	ADRB1 (T58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784169	NM_000684.3(ADRB1):c.207G>A (p.Val69=)	ADRB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780911	NM_000684.3(ADRB1):c.228T>C (p.Asn76=)	ADRB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776545	NM_000684.3(ADRB1):c.315G>T (p.Leu105=)	ADRB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2621413	NM_000684.3(ADRB1):c.364G>A (p.Gly122Ser)	ADRB1 (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539355	NM_000684.3(ADRB1):c.469T>C (p.Tyr157His)	ADRB1 (Y157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782120	NM_000684.3(ADRB1):c.540C>T (p.Cys180=)	ADRB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 691285	NM_000684.3(ADRB1):c.560C>T (p.Ala187Val)	ADRB1	Single nucleotide variant (missense variant)	SHORT SLEEP, FAMILIAL NATURAL, 2	GAffects
Select item 3090954	NM_000684.3(ADRB1):c.679G>T (p.Ala227Ser)	ADRB1 (A227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221475	NM_000684.3(ADRB1):c.737G>A (p.Arg246Gln)	ADRB1 (R246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779124	NM_000684.3(ADRB1):c.808G>A (p.Ala270Thr)	ADRB1 (A270T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2531679	NM_000684.3(ADRB1):c.809C>A (p.Ala270Glu)	ADRB1 (A270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465351	NM_000684.3(ADRB1):c.823C>T (p.Pro275Ser)	ADRB1 (P275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216575	NM_000684.3(ADRB1):c.862G>A (p.Gly288Arg)	ADRB1 (G288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090977	NM_000684.3(ADRB1):c.914G>C (p.Arg305Pro)	ADRB1 (R305P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496294	NM_000684.3(ADRB1):c.931C>A (p.Pro311Thr)	ADRB1 (P311T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090983	NM_000684.3(ADRB1):c.938G>C (p.Arg313Pro)	ADRB1 (R313P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513530	NM_000684.3(ADRB1):c.1042G>T (p.Ala348Ser)	ADRB1 (A348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789895	NM_000684.3(ADRB1):c.1065C>A (p.Pro355=)	ADRB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 760055	NM_000684.3(ADRB1):c.1145A>G (p.Asp382Gly)	ADRB1 (D382G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 17746	NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg)	ADRB1 (G389R)	Single nucleotide variant (missense variant)	ADRB1-related disorder	GBenign
Select item 735162	NM_000684.3(ADRB1):c.1166G>T (p.Gly389Val)	ADRB1 (G389V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2563115	NM_000684.3(ADRB1):c.1198C>T (p.Arg400Trp)	ADRB1 (R400W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044684	NM_000684.3(ADRB1):c.1239C>G (p.Gly413=)	ADRB1	Single nucleotide variant (synonymous variant)	ADRB1-related disorder	GLikely benign
Select item 2475349	NM_000684.3(ADRB1):c.1240T>A (p.Cys414Ser)	ADRB1 (C414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599063	NM_000684.3(ADRB1):c.1243C>G (p.Leu415Val)	ADRB1 (L415V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778968	NM_000684.3(ADRB1):c.1317G>A (p.Thr439=)	ADRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410252	NM_000684.3(ADRB1):c.1339C>G (p.Pro447Ala)	ADRB1 (P447A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470400	NM_000684.3(ADRB1):c.1382C>T (p.Ser461Leu)	ADRB1 (S461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 64