18082[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	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 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 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 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	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 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 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
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 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 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 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	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 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 3329335	NM_016113.5(TRPV2):c.58G>A (p.Glu20Lys)	TRPV2 (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329336	NM_016113.5(TRPV2):c.103G>A (p.Gly35Arg)	TRPV2 (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372252	NM_016113.5(TRPV2):c.142C>T (p.Arg48Trp)	TRPV2 (R48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183476	NM_016113.5(TRPV2):c.143G>A (p.Arg48Gln)	TRPV2 (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262087	NM_016113.5(TRPV2):c.148T>C (p.Phe50Leu)	TRPV2 (F50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224573	NM_016113.5(TRPV2):c.187G>A (p.Gly63Arg)	TRPV2 (G63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495297	NM_016113.5(TRPV2):c.206C>T (p.Pro69Leu)	TRPV2 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289479	NM_016113.5(TRPV2):c.218G>A (p.Arg73Gln)	TRPV2 (R73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332624	NM_016113.5(TRPV2):c.248T>G (p.Val83Gly)	TRPV2 (V83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388486	NM_016113.5(TRPV2):c.254G>A (p.Arg85Gln)	TRPV2 (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183481	NM_016113.5(TRPV2):c.424G>C (p.Asp142His)	TRPV2 (D142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367546	NM_016113.5(TRPV2):c.505A>G (p.Ile169Val)	TRPV2 (I169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597658	NM_016113.5(TRPV2):c.706G>A (p.Ala236Thr)	TRPV2 (A236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353794	NM_016113.5(TRPV2):c.706G>T (p.Ala236Ser)	TRPV2 (A236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222412	NM_016113.5(TRPV2):c.749A>G (p.His250Arg)	TRPV2 (H250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225820	NM_016113.5(TRPV2):c.868C>T (p.Arg290Cys)	TRPV2 (R290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248977	NM_016113.5(TRPV2):c.889C>A (p.Pro297Thr)	TRPV2 (P297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183482	NM_016113.5(TRPV2):c.922G>A (p.Glu308Lys)	TRPV2 (E308K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259651	NM_016113.5(TRPV2):c.1046G>A (p.Cys349Tyr)	TRPV2 (C349Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 2616265	NM_016113.5(TRPV2):c.1278G>C (p.Glu426Asp)	TRPV2 (E426D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262491	NM_016113.5(TRPV2):c.1280T>C (p.Val427Ala)	TRPV2 (V427A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406838	NM_016113.5(TRPV2):c.1288T>C (p.Ser430Pro)	TRPV2 (S430P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255352	NM_016113.5(TRPV2):c.1317C>G (p.Ile439Met)	TRPV2 (I439M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183475	NM_016113.5(TRPV2):c.1342G>A (p.Val448Met)	TRPV2 (V448M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771491	NM_016113.5(TRPV2):c.1351-4G>A	TRPV2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3329337	NM_016113.5(TRPV2):c.1363T>A (p.Trp455Arg)	TRPV2 (W455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289467	NM_016113.5(TRPV2):c.1538A>G (p.Tyr513Cys)	TRPV2 (Y513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495144	NM_016113.5(TRPV2):c.1540A>G (p.Thr514Ala)	TRPV2 (T514A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298017	NM_016113.5(TRPV2):c.1648G>A (p.Ala550Thr)	TRPV2 (A550T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337051	NM_016113.5(TRPV2):c.1734G>A (p.Met578Ile)	TRPV2 (M578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183477	NM_016113.5(TRPV2):c.1774G>A (p.Gly592Ser)	TRPV2 (G592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258056	NM_016113.5(TRPV2):c.1850A>G (p.His617Arg)	TRPV2 (H617R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324864	NM_016113.5(TRPV2):c.1858G>A (p.Gly620Ser)	TRPV2 (G620S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285921	NM_016113.5(TRPV2):c.2033G>A (p.Cys678Tyr)	TRPV2 (C678Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183478	NM_016113.5(TRPV2):c.2097T>A (p.Asp699Glu)	TRPV2 (D699E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183479	NM_016113.5(TRPV2):c.2256G>T (p.Glu752Asp)	TRPV2 (E752D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183480	NM_016113.5(TRPV2):c.2272G>A (p.Val758Ile)	TRPV2 (V758I)	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 2684837	GRCh37/hg19 17p11.2(chr17:16193908-16490573)x3	CENPV, LRRC75A +4 more	Copy number gain	not provided	GUncertain significance
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 1809485	GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)x3	ADORA2B, CCDC144A +10 more	Copy number gain	not provided	GUncertain significance
Select item 1809433	GRCh37/hg19 17p11.2(chr17:16293557-16421075)x3	LRRC75A, TRPV2	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 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
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 832395	NC_000017.11:g.(?_16217207)_(16972095_?)dup	CCDC144A, CENPV +7 more	Duplication	not provided	GUncertain significance
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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 81