ClinVar for Gene (Select 57336) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335389	NM_020653.4(ZNF287):c.191G>A (p.Arg64Gln)	ZNF287 (R64Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335388	NM_020653.4(ZNF287):c.1956A>G (p.Ile652Met)	ZNF287 (I483M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335387	NM_020653.4(ZNF287):c.320C>G (p.Thr107Ser)	ZNF287 (T107S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335386	NM_020653.4(ZNF287):c.1163G>A (p.Ser388Asn)	ZNF287 (S219N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194958	NM_020653.4(ZNF287):c.73G>A (p.Ala25Thr)	ZNF287 (A25T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194957	NM_020653.4(ZNF287):c.1804A>G (p.Ser602Gly)	ZNF287 (S602G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194956	NM_020653.4(ZNF287):c.1004T>C (p.Leu335Ser)	ZNF287 (L166S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2558795	NM_020653.4(ZNF287):c.790A>G (p.Ile264Val)	ZNF287 (I95V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541566	NM_020653.4(ZNF287):c.676T>G (p.Trp226Gly)	ZNF287 (W226G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519901	NM_020653.4(ZNF287):c.212G>A (p.Arg71Gln)	ZNF287 (R71Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517542	NM_020653.4(ZNF287):c.2279G>A (p.Arg760His)	ZNF287 (R591H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480751	NM_020653.4(ZNF287):c.821A>G (p.Asp274Gly)	ZNF287 (D105G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474180	NM_020653.4(ZNF287):c.2201G>T (p.Cys734Phe)	ZNF287 (C565F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462557	NM_020653.4(ZNF287):c.836G>A (p.Arg279Gln)	ZNF287 (R110Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392028	NM_020653.4(ZNF287):c.754G>A (p.Asp252Asn)	ZNF287 (D252N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356311	NM_020653.4(ZNF287):c.1049A>G (p.Asn350Ser)	ZNF287 (N181S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337845	NM_020653.4(ZNF287):c.2203C>T (p.Arg735Cys)	ZNF287 (R566C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322261	NM_020653.4(ZNF287):c.950A>G (p.Tyr317Cys)	ZNF287 (Y317C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320885	NM_020653.4(ZNF287):c.784C>T (p.His262Tyr)	ZNF287 (H214Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307483	NM_020653.4(ZNF287):c.754G>T (p.Asp252Tyr)	ZNF287 (D252Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255734	NM_020653.4(ZNF287):c.1238C>T (p.Ala413Val)	ZNF287 (A413V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248487	NM_020653.4(ZNF287):c.1187A>G (p.Tyr396Cys)	ZNF287 (Y227C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228178	NM_020653.4(ZNF287):c.575A>G (p.Lys192Arg)	ZNF287 (K23R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216863	NM_020653.4(ZNF287):c.1786A>G (p.Ile596Val)	ZNF287 (I548V +2 more)	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 1710381	NM_020653.4(ZNF287):c.2195A>G (p.Tyr732Cys)	ZNF287 (Y563C +2 more)	Single nucleotide variant (missense variant)	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 1703553	Single allele	ATPAF2, CCDC144A +17 more	Complex	Potocki-Lupski 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 161733	NM_020653.4(ZNF287):c.1093G>C (p.Glu365Gln)	ZNF287 (E365Q +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	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 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 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	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 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