151[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	ADRA2B, ANKRD23 +126 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	ADRA2B, ANKRD23 +119 more	Copy number loss	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 3053525	NM_000682.7(ADRA2B):c.*2C>A	ADRA2B	Single nucleotide variant (3 prime UTR variant)	ADRA2B-related disorder	GLikely benign
Select item 736745	NM_000682.7(ADRA2B):c.1293G>A (p.Gln431=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767187	NM_000682.7(ADRA2B):c.1266C>T (p.Asn422=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025171	NM_000682.7(ADRA2B):c.1242C>T (p.Ile414=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054220	NM_000682.7(ADRA2B):c.1233C>T (p.Phe411=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related disorder	GLikely benign
Select item 2664602	NM_000682.7(ADRA2B):c.1186A>G (p.Ile396Val)	ADRA2B (I396V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707066	NM_000682.7(ADRA2B):c.1135G>A (p.Val379Ile)	ADRA2B (V379I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2367365	NM_000682.7(ADRA2B):c.1127T>G (p.Val376Gly)	ADRA2B (V376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046238	NM_000682.7(ADRA2B):c.1126G>A (p.Val376Ile)	ADRA2B (V376I)	Single nucleotide variant (missense variant)	ADRA2B-related disorder	GLikely benign
Select item 871765	NM_000682.7(ADRA2B):c.1102C>T (p.Arg368Cys)	ADRA2B (R368C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690853	NM_000682.7(ADRA2B):c.1093C>T (p.Arg365Trp)	ADRA2B (R365W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213759	NM_000682.7(ADRA2B):c.1079G>A (p.Arg360Gln)	ADRA2B (R360Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572014	NM_000682.7(ADRA2B):c.1070G>A (p.Trp357Ter)	ADRA2B (W357*)	Single nucleotide variant (nonsense)	ADRA2B-related disorder	Gnot provided
Select item 2690851	NM_000682.7(ADRA2B):c.1058G>A (p.Gly353Asp)	ADRA2B (G353D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342315	NM_000682.7(ADRA2B):c.943G>C (p.Val315Leu)	ADRA2B (V315L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707706	NM_000682.7(ADRA2B):c.943G>A (p.Val315Met)	ADRA2B (V315M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3035246	NM_000682.7(ADRA2B):c.894AGAGGAGGA[3] (p.Glu309_Cys310insGluGluGlu)	ADRA2B	Microsatellite	ADRA2B-related disorder	GBenign
Select item 706992	NM_000682.7(ADRA2B):c.911_912insAGAGGA (p.Glu308_Glu309dup)	ADRA2B	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 767169	NM_000682.7(ADRA2B):c.894AGAGGAGGA[1] (p.Glu307_Glu309del)	ADRA2B	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 992750	NM_000682.7(ADRA2B):c.898_899insGGGAAGAGG (p.Glu299_Glu300insGlyGluGlu)	ADRA2B	Insertion (inframe_insertion)	Seizure	GUncertain significance
Select item 2401905	NM_000682.7(ADRA2B):c.874T>C (p.Ser292Pro)	ADRA2B (S292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690852	NM_000682.7(ADRA2B):c.836A>G (p.Asn279Ser)	ADRA2B (N279S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029464	NM_000682.7(ADRA2B):c.783C>T (p.Thr261=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related disorder	GLikely benign
Select item 655730	NM_000682.7(ADRA2B):c.695C>G (p.Ala232Gly)	ADRA2B (A232G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 192366	NM_000682.7(ADRA2B):c.675_686delinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg)	ADRA2B	Indel (inframe_indel)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 191117	NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter)	ADRA2B (R222*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032452	NM_000682.7(ADRA2B):c.649G>A (p.Glu217Lys)	ADRA2B (E217K)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2 +1 more	GUncertain significance
Select item 929047	NM_000682.7(ADRA2B):c.636dup (p.Pro213fs)	ADRA2B (P213fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2230588	NM_000682.7(ADRA2B):c.628A>G (p.Lys210Glu)	ADRA2B (K210E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1325621	NM_000682.7(ADRA2B):c.622del (p.Arg208fs)	ADRA2B (R208fs)	Deletion (frameshift variant)	Seizure	GUncertain significance
Select item 2541295	NM_000682.7(ADRA2B):c.568C>T (p.Leu190Phe)	ADRA2B (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767281	NM_000682.7(ADRA2B):c.567C>T (p.Ile189=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090838	NM_000682.7(ADRA2B):c.513G>C (p.Trp171Cys)	ADRA2B (W171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311772	NM_000682.7(ADRA2B):c.490T>C (p.Cys164Arg)	ADRA2B (C164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031914	NM_000682.7(ADRA2B):c.483C>T (p.Arg161=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related disorder	GLikely benign
Select item 3273877	NM_000682.7(ADRA2B):c.457G>T (p.Asp153Tyr)	ADRA2B (D153Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271001	NM_000682.7(ADRA2B):c.382C>A (p.Arg128Ser)	ADRA2B (R128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490644	NM_000682.7(ADRA2B):c.379C>A (p.Arg127Ser)	ADRA2B (R127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690850	NM_000682.7(ADRA2B):c.293C>A (p.Ser98Ter)	ADRA2B (S98*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2254909	NM_000682.7(ADRA2B):c.280C>G (p.Leu94Val)	ADRA2B (L94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376874	NM_000682.7(ADRA2B):c.276C>G (p.Asp92Glu)	ADRA2B (D92E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029933	NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn)	ADRA2B (D92N)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 3090824	NM_000682.7(ADRA2B):c.242G>C (p.Arg81Pro)	ADRA2B (R81P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271399	NM_000682.7(ADRA2B):c.242G>A (p.Arg81Gln)	ADRA2B (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382453	NM_000682.7(ADRA2B):c.202T>A (p.Phe68Ile)	ADRA2B (F68I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 713934	NM_000682.7(ADRA2B):c.145C>T (p.Leu49=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 772413	NM_000682.7(ADRA2B):c.120C>T (p.Ser40=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2664653	NM_000682.7(ADRA2B):c.116C>T (p.Thr39Ile)	ADRA2B (T39I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2250437	NM_000682.7(ADRA2B):c.79A>G (p.Ile27Val)	ADRA2B (I27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273867	NM_000682.7(ADRA2B):c.40G>T (p.Ala14Ser)	ADRA2B (A14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035382	NM_000682.7(ADRA2B):c.36A>G (p.Thr12=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related disorder	GBenign
Select item 3036697	NM_000682.7(ADRA2B):c.21C>T (p.Tyr7=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related disorder	GLikely benign
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3062352	Single allele	ADRA2B, ASTL +4 more	Deletion	Pheochromocytoma	GUncertain significance
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	ADRA2B, ANKRD23 +19 more	Copy number loss	not provided	GPathogenic
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807978	GRCh37/hg19 2q11.1-11.2(chr2:96628608-96981369)x3	ADRA2B, ANKRD36C +7 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1443631	NC_000002.11:g.(?_96780545)_(97475254_?)dup	ADRA2B, ARID5A +12 more	Duplication	not provided	GUncertain significance
Select item 1340229	GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1047904	GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)	CIAO1, CNNM3 +19 more	Copy number loss	Cleft lip +1 more	GPathogenic
Select item 997821	Single allele	ANKRD36B, ANKRD39 +20 more	Deletion	Intellectual disability	GPathogenic
Select item 980467	GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 980466	GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1	ASTL, CIAO1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 980465	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3	ARID5A, ASTL +22 more	Copy number gain	not provided	GUncertain significance
Select item 980464	GRCh37/hg19 2q11.1-11.2(chr2:96630256-96836549)x3	ANKRD36C, DUSP2 +3 more	Copy number gain	not provided	GLikely benign
Select item 929377	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98193473)x3	CIAO1, CNNM3 +20 more	Copy number gain	See cases	GUncertain significance
Select item 929311	GRCh37/hg19 2q11.1-11.2(chr2:96737083-98261802)x1	CNNM3, CNNM4 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 831315	NC_000002.11:g.(?_96780545)_(96994037_?)dup	ADRA2B, ASTL +6 more	Duplication	not provided	GUncertain significance
Select item 831270	NC_000002.11:g.(?_96780545)_(96971175_?)dup	ADRA2B, ASTL +5 more	Duplication	not provided	GUncertain significance
Select item 814284	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98118115)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 814283	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98254657)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 687873	GRCh37/hg19 2q11.1-11.2(chr2:96552903-98118115)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GPathogenic

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