ClinVar for Gene (Select 151313) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	LMAN2L, NCAPH +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 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 2561743	NM_001320848.2(FAHD2B):c.4C>G (p.Leu2Val)	FAHD2B (L2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532382	NM_001320848.2(FAHD2B):c.23G>A (p.Arg8Lys)	FAHD2B (R8K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384639	NM_001320848.2(FAHD2B):c.713G>A (p.Arg238Gln)	FAHD2B (R238Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343010	NM_001320848.2(FAHD2B):c.310T>C (p.Trp104Arg)	FAHD2B (W104R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339809	NM_001320848.2(FAHD2B):c.847G>A (p.Val283Ile)	FAHD2B (V283I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309884	NM_001320848.2(FAHD2B):c.175G>T (p.Asp59Tyr)	FAHD2B (D59Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278720	NM_001320848.2(FAHD2B):c.598C>T (p.Arg200Cys)	FAHD2B (R200C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276035	NM_001320848.2(FAHD2B):c.860G>A (p.Arg287Lys)	FAHD2B (R287K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266614	NM_001320848.2(FAHD2B):c.241A>G (p.Arg81Gly)	FAHD2B (R81G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264052	NM_001320848.2(FAHD2B):c.248C>T (p.Ala83Val)	FAHD2B (A83V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256910	NM_001320848.2(FAHD2B):c.748A>G (p.Asn250Asp)	FAHD2B (N250D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242138	NM_001320848.2(FAHD2B):c.523G>A (p.Ala175Thr)	FAHD2B (A175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210463	NM_001320848.2(FAHD2B):c.238G>A (p.Ala80Thr)	FAHD2B (A80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 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
Select item 685047	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98025634)x3	ASTL, CIAO1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 638119	GRCh37/hg19 2q11.1-11.2(chr2:96747466-98193473)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562643	GRCh37/hg19 2q11.1-11.2(chr2:96544602-98138405)x1	ADRA2B, ANKRD23 +22 more	Copy number loss	not provided	GUncertain significance
Select item 562641	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98258828)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443435	GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3	CNNM3, CNNM4 +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 443169	GRCh37/hg19 2q11.1-11.2(chr2:96712139-98249638)x1	ADRA2B, ANKRD23 +20 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442814	GRCh37/hg19 2q11.1-11.2(chr2:96732519-98225552)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	See cases	GLikely benign
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 395658	GRCh37/hg19 2q11.1-11.2(chr2:96778661-97757978)x3	ADRA2B, ANKRD23 +18 more	Copy number gain	See cases	GUncertain significance
Select item 395484	GRCh37/hg19 2q11.1-11.2(chr2:96698012-97757442)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	See cases	GUncertain significance
Select item 394618	GRCh37/hg19 2q11.2(chr2:97750013-97757978)x3	FAHD2B	Copy number gain	See cases	GBenign
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	ACTR1B, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	LOC129934371, LOC129934372 +121 more	Copy number gain	See cases	GUncertain significance
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	ADRA2B, ANKRD23 +123 more	Copy number loss	See cases	GPathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 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 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
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 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
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 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	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 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 68