ClinVar for Gene (Select 136) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090106	NM_000676.4(ADORA2B):c.928C>T (p.Leu310Phe)	ADORA2B (L310F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090100	NM_000676.4(ADORA2B):c.609T>G (p.Ile203Met)	ADORA2B (I203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090097	NM_000676.4(ADORA2B):c.577C>T (p.Pro193Ser)	ADORA2B (P193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090080	NM_000676.4(ADORA2B):c.23C>A (p.Ala8Glu)	ADORA2B (A8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090075	NM_000676.4(ADORA2B):c.125C>T (p.Thr42Ile)	ADORA2B (T42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063493	GRCh37/hg19 17p12-11.2(chr17:15872060-16909718)x3	ADORA2B, CCDC144A +11 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684836	GRCh37/hg19 17p12-11.2(chr17:15633208-16567624)x3	ADORA2B, CENPV +10 more	Copy number gain	not provided	GUncertain significance
Select item 2622231	NM_000676.4(ADORA2B):c.779A>G (p.Gln260Arg)	ADORA2B (Q260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594525	NM_000676.4(ADORA2B):c.884G>A (p.Arg295Gln)	ADORA2B (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555798	NM_000676.4(ADORA2B):c.766G>A (p.Val256Ile)	ADORA2B (V256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555554	NM_000676.4(ADORA2B):c.435C>G (p.Asn145Lys)	ADORA2B (N145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517607	NM_000676.4(ADORA2B):c.830T>G (p.Leu277Arg)	ADORA2B (L277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495341	NM_000676.4(ADORA2B):c.968G>A (p.Gly323Glu)	ADORA2B (G323E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489417	NM_000676.4(ADORA2B):c.253G>T (p.Val85Leu)	ADORA2B (V85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476405	NM_000676.4(ADORA2B):c.71G>A (p.Gly24Asp)	ADORA2B (G24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468904	NM_000676.4(ADORA2B):c.26T>C (p.Leu9Pro)	ADORA2B (L9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320904	NM_000676.4(ADORA2B):c.128A>C (p.Asn43Thr)	ADORA2B (N43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314447	NM_000676.4(ADORA2B):c.409G>A (p.Gly137Arg)	ADORA2B (G137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281650	NM_000676.4(ADORA2B):c.340A>C (p.Lys114Gln)	ADORA2B (K114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280829	NM_000676.4(ADORA2B):c.605A>T (p.Tyr202Phe)	ADORA2B (Y202F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250262	NM_000676.4(ADORA2B):c.323G>A (p.Cys108Tyr)	ADORA2B (C108Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809485	GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808102	GRCh37/hg19 17p12-11.2(chr17:15722840-16653256)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807965	GRCh37/hg19 17p12-11.2(chr17:15869557-16097403)x3	ADORA2B, NCOR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	ADORA2B, ARHGAP44 +18 more	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 980122	GRCh37/hg19 17p12-11.2(chr17:15688146-16769801)x3	CENPV, LRRC75A +10 more	Copy number gain	not provided	GUncertain significance
Select item 980121	GRCh37/hg19 17p12-11.2(chr17:15688146-16756345)x1	UBB, TRPV2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 980120	GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	ADORA2B, ALKBH5 +37 more	Copy number loss	not provided	GPathogenic
Select item 815911	GRCh37/hg19 17p12-11.2(chr17:15869556-16070609)x3	TTC19, NCOR1 +2 more	Copy number gain	not provided	GLikely benign
Select item 815910	GRCh37/hg19 17p12-11.2(chr17:15730101-16591260)x3	ZNF287, CENPV +9 more	Copy number gain	not provided	GUncertain significance
Select item 815909	GRCh37/hg19 17p12-11.2(chr17:15722839-16763698)x3	ZSWIM7, ADORA2B +10 more	Copy number gain	not provided	GUncertain significance
Select item 815908	GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	ADORA2B, ALKBH5 +42 more	Copy number loss	not provided	GPathogenic
Select item 786646	NM_000676.4(ADORA2B):c.354G>A (p.Thr118=)	ADORA2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785558	NM_000676.4(ADORA2B):c.786T>C (p.Ala262=)	ADORA2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785557	NM_000676.4(ADORA2B):c.104C>T (p.Ala35Val)	ADORA2B (A35V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716228	NM_000676.4(ADORA2B):c.111T>C (p.Thr37=)	ADORA2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688231	GRCh37/hg19 17p12-11.2(chr17:15722823-16796616)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 688172	GRCh37/hg19 17p12-11.2(chr17:15659400-16591180)x1	ADORA2B, CENPV +9 more	Copy number loss	not provided	GUncertain significance
Select item 686461	GRCh37/hg19 17p12-11.2(chr17:15599193-16756435)x3	ADORA2B, CCDC144A +12 more	Copy number gain	not provided	GUncertain significance
Select item 686350	GRCh37/hg19 17p12-11.2(chr17:15688146-16591261)x3	ADORA2B, CENPV +9 more	Copy number gain	not provided	GUncertain significance
Select item 564407	GRCh37/hg19 17p12(chr17:15722839-15976497)x3	ZSWIM7, ADORA2B +2 more	Copy number gain	not provided	GUncertain significance
Select item 442472	GRCh37/hg19 17p12-11.2(chr17:15688146-16727265)x3	ADORA2B, CCDC144A +10 more	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 394464	GRCh37/hg19 17p12(chr17:15875958-15881277)x1	ADORA2B, ZSWIM7	Copy number loss	See cases	GUncertain significance
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 153341	GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3	ADORA2B, CCDC144A +64 more	Copy number gain	See cases	GUncertain significance
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150382	GRCh38/hg38 17p12(chr17:15190283-15952996)x3	ADORA2B, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 148716	GRCh38/hg38 17p12(chr17:14671118-15952996)x1	ADORA2B, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 69