ADRB3[gene] - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 2579179	GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1	ADGRA2, ADRB3 +53 more	Copy number loss	Hypogonadotropic hypogonadism 2 with or without anosmia	GPathogenic
Select item 59782	GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 1264874	NM_000025.3(ADRB3):c.*250G>C	ADRB3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1244998	NM_000025.3(ADRB3):c.1206-96A>G	ADRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288105	NM_000025.3(ADRB3):c.1205+307dup	ADRB3	Duplication (intron variant)	not provided	GBenign
Select item 1230608	NM_000025.3(ADRB3):c.1205+14G>T	ADRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3091025	NM_000025.3(ADRB3):c.1120G>A (p.Ala374Thr)	ADRB3 (A374T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206328	NM_000025.3(ADRB3):c.1120G>T (p.Ala374Ser)	ADRB3 (A374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707946	NM_000025.3(ADRB3):c.1057C>T (p.Arg353Cys)	ADRB3 (R353C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091021	NM_000025.3(ADRB3):c.1027C>G (p.Pro343Ala)	ADRB3 (P343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050424	NM_000025.3(ADRB3):c.1013A>G (p.Asn338Ser)	ADRB3 (N338S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3091098	NM_000025.3(ADRB3):c.985C>T (p.Leu329Phe)	ADRB3 (L329F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748895	NM_000025.3(ADRB3):c.978G>T (p.Pro326=)	ADRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273955	NM_000025.3(ADRB3):c.785C>A (p.Pro262Gln)	ADRB3 (P262Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560782	NM_000025.3(ADRB3):c.785C>G (p.Pro262Arg)	ADRB3 (P262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615720	NM_000025.3(ADRB3):c.784C>T (p.Pro262Ser)	ADRB3 (P262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227003	NM_000025.3(ADRB3):c.767G>T (p.Arg256Leu)	ADRB3 (R256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261366	NM_000025.3(ADRB3):c.742G>C (p.Glu248Gln)	ADRB3 (E248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518602	NM_000025.3(ADRB3):c.697C>A (p.Arg233Ser)	ADRB3 (R233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354689	NM_000025.3(ADRB3):c.692C>T (p.Ala231Val)	ADRB3 (A231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384681	NM_000025.3(ADRB3):c.578C>G (p.Pro193Arg)	ADRB3 (P193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560597	NM_000025.3(ADRB3):c.529T>C (p.Trp177Arg)	ADRB3 (W177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091062	NM_000025.3(ADRB3):c.460G>T (p.Ala154Ser)	ADRB3 (A154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050272	NM_000025.3(ADRB3):c.452A>G (p.Lys151Arg)	ADRB3 (K151R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3091051	NM_000025.3(ADRB3):c.395C>A (p.Ala132Asp)	ADRB3 (A132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486583	NM_000025.3(ADRB3):c.374T>C (p.Ile125Thr)	ADRB3 (I125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604540	NM_000025.3(ADRB3):c.302G>T (p.Gly101Val)	ADRB3 (G101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253399	NM_000025.3(ADRB3):c.202C>T (p.Leu68Phe)	ADRB3 (L68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17741	NM_000025.3(ADRB3):c.190T>C (p.Trp64Arg)	ADRB3 (W64R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091031	NM_000025.3(ADRB3):c.169C>G (p.Leu57Val)	ADRB3 (L57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338854	NM_000025.3(ADRB3):c.125C>A (p.Ala42Asp)	ADRB3 (A42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715579	NM_000025.3(ADRB3):c.54C>G (p.Pro18=)	ADRB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2223980	NM_000025.3(ADRB3):c.49C>T (p.Leu17Phe)	ADRB3 (L17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218787	NM_000025.3(ADRB3):c.16C>T (p.His6Tyr)	ADRB3 (H6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2425692	NC_000008.10:g.(?_37595441)_(38961219_?)dup	ADAM9, ADGRA2 +21 more	Duplication	Spastic paraplegia +3 more	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527425	GRCh37/hg19 8p11.23-11.22(chr8:37566388-38802788)	ADGRA2, ADRB3 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 1455925	NC_000008.10:g.(?_37595441)_(38961219_?)del	ADAM9, ADGRA2 +21 more	Deletion	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 688131	GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3	ADAM18, ADAM2 +54 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 638118	GRCh37/hg19 8p12-11.23(chr8:36486830-37992515)x1	ADGRA2, ADRB3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 563546	GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	ADGRA2, BAG4 +41 more	Copy number gain	not provided	GPathogenic
Select item 546582	GRCh37/hg19 8p11.23(chr8:37618754-38194831)x3	ASH2L, ADGRA2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 253803	GRCh37/hg19 8p11.23-11.22(chr8:37555526-38600788)x3	C8orf86, RAB11FIP1 +18 more	Copy number gain	See cases	GUncertain significance

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Items: 95