ADORA2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 545272	Single allele	DDTL, DERL3 +164 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 155683	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 154068	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 153611	GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 149196	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148729	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 148336	GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	ADORA2A, ADORA2A-AS1 +163 more	Copy number gain	See cases	GUncertain significance
Select item 160821	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 33061	GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	ADORA2A, ADORA2A-AS1 +160 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 146821	GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	DRICH1, FAM230I +162 more	Copy number gain	See cases	GUncertain significance
Select item 59329	GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	IGLV3-22, IGLV3-25 +160 more	Copy number gain	See cases	GUncertain significance
Select item 59330	GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	ADORA2A, ADORA2A-AS1 +157 more	Copy number gain	See cases	GUncertain significance
Select item 155476	GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3	ADORA2A, ADORA2A-AS1 +124 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 59331	GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3	ADORA2A, ADORA2A-AS1 +84 more	Copy number gain	See cases	GUncertain significance
Select item 153399	GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GUncertain significance
Select item 155495	GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3	ADORA2A, ADORA2A-AS1 +81 more	Copy number gain	See cases	GLikely benign
Select item 150614	GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148933	GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3	LOC130067094, LOC130067095 +80 more	Copy number gain	See cases	GUncertain significance
Select item 148633	GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3	ADORA2A, ADORA2A-AS1 +80 more	Copy number gain	See cases	GUncertain significance
Select item 545275	Single allele	DDT, C22orf15 +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545274	Single allele	LRRC75B, MIF +78 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 59341	GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 59340	GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 155560	GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3	LOC130067120, LOC130067121 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59342	GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3	ADORA2A, ADORA2A-AS1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 59343	GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3	ADORA2A, ADORA2A-AS1 +76 more	Copy number gain	See cases	GUncertain significance
Select item 160934	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 33448	GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 59346	GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3	ADORA2A, ADORA2A-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 148096	GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3	ADORA2A, ADORA2A-AS1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2280611	NM_000675.6(ADORA2A):c.23T>C (p.Val8Ala)	ADORA2A, ADORA2A-AS1 +1 more (V8A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3501773	NM_000675.6(ADORA2A):c.137T>C (p.Val46Ala)	ADORA2A, ADORA2A-AS1 +1 more (V46A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557710	NM_000675.6(ADORA2A):c.148G>T (p.Ala50Ser)	ADORA2A, ADORA2A-AS1 +1 more (A50S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2546609	NM_000675.6(ADORA2A):c.203C>T (p.Thr68Ile)	ADORA2A, ADORA2A-AS1 +1 more (T68I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 758935	NM_000675.6(ADORA2A):c.332+9G>A	SPECC1L-ADORA2A, ADORA2A +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2620824	NM_000675.6(ADORA2A):c.352G>A (p.Gly118Ser)	ADORA2A, ADORA2A-AS1 +1 more (G118S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208066	NM_000675.6(ADORA2A):c.356C>T (p.Thr119Met)	ADORA2A, ADORA2A-AS1 +1 more (T119M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2496108	NM_000675.6(ADORA2A):c.391C>G (p.Leu131Val)	ADORA2A, ADORA2A-AS1 +1 more (L131V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379112	NM_000675.6(ADORA2A):c.424G>A (p.Gly142Ser)	ADORA2A, ADORA2A-AS1 +1 more (G142S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 782351	NM_000675.6(ADORA2A):c.432C>T (p.Asn144=)	ADORA2A, ADORA2A-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 769157	NM_000675.6(ADORA2A):c.439G>A (p.Gly147Ser)	ADORA2A, ADORA2A-AS1 +1 more (G147S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3273456	NM_000675.6(ADORA2A):c.443A>G (p.Gln148Arg)	ADORA2A, ADORA2A-AS1 +1 more (Q148R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2372318	NM_000675.6(ADORA2A):c.478G>A (p.Gly160Arg)	ADORA2A, ADORA2A-AS1 +1 more (G160R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2252860	NM_000675.6(ADORA2A):c.587T>C (p.Val196Ala)	ADORA2A, ADORA2A-AS1 +1 more (V196A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 769158	NM_000675.6(ADORA2A):c.711C>A (p.Ile237=)	ADORA2A, ADORA2A-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2286427	NM_000675.6(ADORA2A):c.751A>T (p.Ile251Phe)	ADORA2A, ADORA2A-AS1 +1 more (I251F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090062	NM_000675.6(ADORA2A):c.869A>T (p.Tyr290Phe)	ADORA2A, ADORA2A-AS1 +1 more (Y290F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090064	NM_000675.6(ADORA2A):c.871C>T (p.Arg291Cys)	ADORA2A, ADORA2A-AS1 +1 more (R291C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 774536	NM_000675.6(ADORA2A):c.885C>T (p.Phe295=)	ADORA2A, ADORA2A-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2603874	NM_000675.6(ADORA2A):c.887G>A (p.Arg296His)	ADORA2A, ADORA2A-AS1 +1 more (R296H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090070	NM_000675.6(ADORA2A):c.911G>A (p.Arg304His)	ADORA2A, ADORA2A-AS1 +1 more (R304H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090073	NM_000675.6(ADORA2A):c.919G>A (p.Val307Ile)	ADORA2A, ADORA2A-AS1 +1 more (V307I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3501768	NM_000675.6(ADORA2A):c.952G>A (p.Gly318Ser)	ADORA2A, ADORA2A-AS1 +1 more (G318S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3273446	NM_000675.6(ADORA2A):c.1018G>A (p.Gly340Ser)	ADORA2A, ADORA2A-AS1 +1 more (G340S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3501757	NM_000675.6(ADORA2A):c.1033G>A (p.Val345Met)	ADORA2A, ADORA2A-AS1 +1 more (V345M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3273467	NM_000675.6(ADORA2A):c.1033G>C (p.Val345Leu)	ADORA2A, ADORA2A-AS1 +1 more (V345L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327114	NM_000675.6(ADORA2A):c.1036T>C (p.Trp346Arg)	ADORA2A, ADORA2A-AS1 +1 more (W346R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 780634	NM_000675.6(ADORA2A):c.1044C>T (p.Asn348=)	ADORA2A, ADORA2A-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3090022	NM_000675.6(ADORA2A):c.1072C>T (p.Pro358Ser)	ADORA2A, ADORA2A-AS1 +1 more (P358S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2622323	NM_000675.6(ADORA2A):c.1091G>T (p.Gly364Val)	ADORA2A, ADORA2A-AS1 +1 more (G364V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459042	NM_000675.6(ADORA2A):c.1169T>C (p.Leu390Pro)	ADORA2A, ADORA2A-AS1 +1 more (L390P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3501778	NM_000675.6(ADORA2A):c.1204G>A (p.Asp402Asn)	ADORA2A, ADORA2A-AS1 +1 more (D402N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3148953	GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GUncertain significance
Select item 3148891	GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3	ADORA2A, BCR +26 more	Copy number gain	See cases	GPathogenic
Select item 2684933	GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 2672922	GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 2580295	GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3	ADORA2A, BCR +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2426291	NC_000022.10:g.(?_24829373)_(24921762_?)dup	ADORA2A, UPB1	Duplication	not provided	GUncertain significance
Select item 1808733	GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808567	GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808423	GRCh37/hg19 22q11.23(chr22:24402263-25447775)x3	ADORA2A, CABIN1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808230	GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3	ADORA2A, BCR +31 more	Copy number gain	not provided	GPathogenic
Select item 1807709	GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 1704348	GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3	ADORA2A, BCR +26 more	Copy number gain	Unilateral renal agenesis	GUncertain significance
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1328446	GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3	DDT, ADORA2A +25 more	Copy number gain	not provided	GUncertain significance
Select item 1004379	NC_000022.10:g.(?_23915453)_(24921762_?)dup	CABIN1, CHCHD10 +21 more	Duplication	not provided	GUncertain significance
Select item 997818	Single allele	DERL3, DRICH1 +25 more	Duplication	Epilepsy +1 more	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 983159	GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3	GGT5, ZNF70 +25 more	Copy number gain	See cases	GUncertain significance
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	MAPK1, MED15 +124 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome +1 more	GPathogenic
Select item 979600	GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3	LRRC75B, MIF +26 more	Copy number gain	not provided	GPathogenic
Select item 979598	GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3	DDTL, GUCD1 +29 more	Copy number gain	not provided	GPathogenic
Select item 830686	NC_000022.10:g.(?_24129357)_(24836024_?)del	ADORA2A, CABIN1 +12 more	Deletion	not provided	GPathogenic
Select item 830423	NC_000022.10:g.(?_24129357)_(24836024_?)dup	DERL3, GGT5 +12 more	Duplication	not provided	GUncertain significance
Select item 816492	GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3	GGT1, DDT +19 more	Copy number gain	See cases	GUncertain significance
Select item 816211	GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3	GGT5, RGL4 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816209	GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3	GGTLC2, GNAZ +32 more	Copy number gain	not provided	GUncertain significance
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 688980	GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3	ADORA2A, C22orf15 +25 more	Copy number gain	not provided	GPathogenic
Select item 688543	GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3	ADORA2A, BCR +26 more	Copy number gain	not provided	GPathogenic
Select item 686931	GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3	SMARCB1, SNRPD3 +32 more	Copy number gain	not provided	GPathogenic
Select item 685920	GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3	ADORA2A, BCR +32 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic

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