ClinVar for Gene (Select 57335) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335385	NM_001130842.2(ZNF286A):c.1016C>T (p.Thr339Ile)	ZNF286A, ZNF286A-TBC1D26 (T382I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3335384	NM_001130842.2(ZNF286A):c.825A>T (p.Glu275Asp)	ZNF286A, ZNF286A-TBC1D26 (E224D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3335383	NM_001130842.2(ZNF286A):c.1454A>G (p.Gln485Arg)	ZNF286A, ZNF286A-TBC1D26 (Q434R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194955	NM_001130842.2(ZNF286A):c.94G>A (p.Val32Met)	ZNF286A, ZNF286A-TBC1D26 (V22M +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3194954	NM_001130842.2(ZNF286A):c.495G>C (p.Gln165His)	ZNF286A, ZNF286A-TBC1D26 (Q165H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194953	NM_001130842.2(ZNF286A):c.228C>A (p.Asn76Lys)	ZNF286A, ZNF286A-TBC1D26 (N25K +3 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3194952	NM_001130842.2(ZNF286A):c.1177C>T (p.His393Tyr)	ZNF286A, ZNF286A-TBC1D26 (H436Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194951	NM_001130842.2(ZNF286A):c.1010G>A (p.Arg337Gln)	ZNF286A, ZNF286A-TBC1D26 (R286Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2647500	NM_001130842.2(ZNF286A):c.1521A>G (p.Ser507=)	ZNF286A, ZNF286A-TBC1D26	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2623130	NM_001130842.2(ZNF286A):c.443A>G (p.Tyr148Cys)	ZNF286A, ZNF286A-TBC1D26 (Y138C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2620819	NM_001130842.2(ZNF286A):c.701A>G (p.Gln234Arg)	ZNF286A, ZNF286A-TBC1D26 (Q224R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2612776	NM_001130842.2(ZNF286A):c.1433C>T (p.Ser478Leu)	ZNF286A, ZNF286A-TBC1D26 (S366L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2605512	NM_001130842.2(ZNF286A):c.1373G>T (p.Arg458Ile)	ZNF286A, ZNF286A-TBC1D26 (R407I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594626	NM_001130842.2(ZNF286A):c.1007A>T (p.Asn336Ile)	ZNF286A, ZNF286A-TBC1D26 (N224I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2559946	NM_001130842.2(ZNF286A):c.550T>C (p.Ser184Pro)	ZNF286A, ZNF286A-TBC1D26 (S184P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2515275	NM_001130842.2(ZNF286A):c.419A>G (p.Asp140Gly)	ZNF286A, ZNF286A-TBC1D26 (D89G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2514395	NM_001130842.2(ZNF286A):c.724C>T (p.Pro242Ser)	ZNF286A, ZNF286A-TBC1D26 (P242S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2477365	NM_001130842.2(ZNF286A):c.410C>T (p.Ala137Val)	ZNF286A, ZNF286A-TBC1D26 (A86V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2412154	NM_001130842.2(ZNF286A):c.38C>A (p.Ala13Asp)	ZNF286A, ZNF286A-TBC1D26 (A13D +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2401748	NM_001130842.2(ZNF286A):c.626G>T (p.Arg209Ile)	ZNF286A, ZNF286A-TBC1D26 (R158I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2388986	NM_001130842.2(ZNF286A):c.668G>A (p.Ser223Asn)	ZNF286A, ZNF286A-TBC1D26 (S266N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384214	NM_001130842.2(ZNF286A):c.779G>A (p.Arg260Gln)	ZNF286A, ZNF286A-TBC1D26 (R148Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2380185	NM_001130842.2(ZNF286A):c.1346G>A (p.Arg449Gln)	ZNF286A, ZNF286A-TBC1D26 (R398Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2367262	NM_001130842.2(ZNF286A):c.293C>T (p.Pro98Leu)	ZNF286A, ZNF286A-TBC1D26 (P141L +3 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2340466	NM_001130842.2(ZNF286A):c.430C>T (p.Arg144Trp)	ZNF286A, ZNF286A-TBC1D26 (R144W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332714	NM_001130842.2(ZNF286A):c.509A>G (p.Glu170Gly)	ZNF286A, ZNF286A-TBC1D26 (E119G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2329759	NM_001130842.2(ZNF286A):c.338T>C (p.Met113Thr)	ZNF286A, ZNF286A-TBC1D26 (M103T +4 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2301645	NM_001130842.2(ZNF286A):c.1441C>G (p.Leu481Val)	ZNF286A, ZNF286A-TBC1D26 (L430V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300570	NM_001130842.2(ZNF286A):c.580T>C (p.Tyr194His)	ZNF286A, ZNF286A-TBC1D26 (Y184H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2243691	NM_001130842.2(ZNF286A):c.1393C>T (p.Pro465Ser)	ZNF286A, ZNF286A-TBC1D26 (P414S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2232841	NM_001130842.2(ZNF286A):c.1192A>G (p.Thr398Ala)	ZNF286A, ZNF286A-TBC1D26 (T286A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2225200	NM_001130842.2(ZNF286A):c.106C>T (p.Arg36Cys)	ZNF286A, ZNF286A-TBC1D26 (R79C +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2219747	NM_001130842.2(ZNF286A):c.355A>T (p.Ser119Cys)	ZNF286A, ZNF286A-TBC1D26 (S109C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 686461	GRCh37/hg19 17p12-11.2(chr17:15599193-16756435)x3	ADORA2B, CCDC144A +12 more	Copy number gain	not provided	GUncertain significance
Select item 625728	GRCh37/hg19 17p12(chr17:14105874-15611546)	CDRT15, CDRT4 +9 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
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 253384	GRCh37/hg19 17p12(chr17:14139857-15707850)x3	HS3ST3B1, TVP23C +9 more	Copy number gain	See cases	GPathogenic
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 154394	GRCh38/hg38 17p12(chr17:15140036-15708439)x3	CDRT3, CDRT4 +15 more	Copy number gain	See cases	GUncertain significance
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	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 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

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Links from Gene

Items: 52