ZNF286A-TBC1D26[gene] - ClinVar

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Items: 50

	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 148716	GRCh38/hg38 17p12(chr17:14671118-15952996)x1	ADORA2B, CDRT3 +25 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 154394	GRCh38/hg38 17p12(chr17:15140036-15708439)x3	CDRT3, CDRT4 +15 more	Copy number gain	See cases	GUncertain significance
Select item 150382	GRCh38/hg38 17p12(chr17:15190283-15952996)x3	ADORA2B, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	ADORA2B, ALKBH5 +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +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 2412154	NM_001130842.2(ZNF286A):c.38C>A (p.Ala13Asp)	ZNF286A-TBC1D26, ZNF286A (A13D +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2367262	NM_001130842.2(ZNF286A):c.293C>T (p.Pro98Leu)	ZNF286A-TBC1D26, ZNF286A (P141L +3 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	GUncertain significance
Select item 2340466	NM_001130842.2(ZNF286A):c.430C>T (p.Arg144Trp)	ZNF286A-TBC1D26, ZNF286A (R144W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	GUncertain significance
Select item 2332714	NM_001130842.2(ZNF286A):c.509A>G (p.Glu170Gly)	ZNF286A-TBC1D26, ZNF286A (E119G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
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)	Inborn genetic diseases	GUncertain significance
Select item 2401748	NM_001130842.2(ZNF286A):c.626G>T (p.Arg209Ile)	ZNF286A-TBC1D26, ZNF286A (R158I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388986	NM_001130842.2(ZNF286A):c.668G>A (p.Ser223Asn)	ZNF286A-TBC1D26, ZNF286A (S266N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2384214	NM_001130842.2(ZNF286A):c.779G>A (p.Arg260Gln)	ZNF286A-TBC1D26, ZNF286A (R148Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2380185	NM_001130842.2(ZNF286A):c.1346G>A (p.Arg449Gln)	ZNF286A-TBC1D26, ZNF286A (R398Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2243691	NM_001130842.2(ZNF286A):c.1393C>T (p.Pro465Ser)	ZNF286A-TBC1D26, ZNF286A (P414S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2301645	NM_001130842.2(ZNF286A):c.1441C>G (p.Leu481Val)	ZNF286A-TBC1D26, ZNF286A (L430V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	ADORA2B, AKAP10 +314 more	Copy number loss	See cases	GPathogenic
Select item 151503	GRCh38/hg38 17p12(chr17:15734367-15770848)x3	TBC1D26, TBC1D26-AS1 +1 more	Copy number gain	See cases	GBenign
Select item 2548218	NM_001388465.1(TBC1D26):c.172C>T (p.Pro58Ser)	TBC1D26, TBC1D26-AS1 +1 more (P58S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411795	NM_001388465.1(TBC1D26):c.206G>T (p.Arg69Leu)	TBC1D26-AS1, ZNF286A-TBC1D26 +1 more (R69L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509271	NM_001388465.1(TBC1D26):c.221G>A (p.Arg74His)	TBC1D26, TBC1D26-AS1 +1 more (R74H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2647501	NM_001388465.1(TBC1D26):c.267G>A (p.Arg89=)	TBC1D26, TBC1D26-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2266997	NM_001388465.1(TBC1D26):c.270C>G (p.Ser90Arg)	TBC1D26-AS1, ZNF286A-TBC1D26 +1 more (S90R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344278	NM_001388465.1(TBC1D26):c.320G>A (p.Arg107Gln)	TBC1D26-AS1, ZNF286A-TBC1D26 +1 more (R107Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520609	NM_001388465.1(TBC1D26):c.326G>A (p.Arg109Gln)	TBC1D26, TBC1D26-AS1 +1 more (R109Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2461763	NM_001388465.1(TBC1D26):c.346G>C (p.Asp116His)	TBC1D26, TBC1D26-AS1 +1 more (D116H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568507	NM_001388465.1(TBC1D26):c.470T>G (p.Met157Arg)	TBC1D26, TBC1D26-AS1 +1 more (M157R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303464	NM_001388465.1(TBC1D26):c.581C>T (p.Thr194Ile)	TBC1D26, ZNF286A-TBC1D26 +1 more (T194I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614742	NM_001388465.1(TBC1D26):c.584C>T (p.Ala195Val)	TBC1D26, TBC1D26-AS1 +1 more (A195V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352130	NM_001388465.1(TBC1D26):c.675C>T (p.Leu225=)	TBC1D26, TBC1D26-AS1 +1 more (S232L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 152581	GRCh38/hg38 17p12(chr17:15745195-15770848)x3	ZNF286A-TBC1D26	Copy number gain	See cases	GBenign

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Items: 50