ZNF239[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 145846	GRCh38/hg38 10q11.21(chr10:43545153-43603440)x3	LOC130003740, LOC130003741 +1 more	Copy number gain	See cases	GLikely benign
Select item 3194641	NM_001099282.2(ZNF239):c.1373G>A (p.Arg458His)	ZNF239 (R571H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335239	NM_001099282.2(ZNF239):c.1368T>G (p.Asp456Glu)	ZNF239 (D456E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335241	NM_001099282.2(ZNF239):c.1360A>G (p.Lys454Glu)	ZNF239 (K454E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194640	NM_001099282.2(ZNF239):c.1351C>T (p.Arg451Trp)	ZNF239 (R451W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400085	NM_001099282.2(ZNF239):c.1304A>C (p.Lys435Thr)	ZNF239 (K435T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335240	NM_001099282.2(ZNF239):c.1251A>T (p.Lys417Asn)	ZNF239 (K417N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194639	NM_001099282.2(ZNF239):c.1205C>A (p.Pro402His)	ZNF239 (P402H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217088	NM_001099282.2(ZNF239):c.1163C>G (p.Ser388Trp)	ZNF239 (S501W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194638	NM_001099282.2(ZNF239):c.1096C>T (p.Arg366Trp)	ZNF239 (R408W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335024	NM_001099282.2(ZNF239):c.1076G>A (p.Ser359Asn)	ZNF239 (S401N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257740	NM_001099282.2(ZNF239):c.1040A>T (p.Tyr347Phe)	ZNF239 (Y460F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369577	NM_001099282.2(ZNF239):c.991C>T (p.Arg331Cys)	ZNF239 (R331C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302206	NM_001099282.2(ZNF239):c.982T>G (p.Phe328Val)	ZNF239 (F328V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194647	NM_001099282.2(ZNF239):c.932G>A (p.Arg311Gln)	ZNF239 (R424Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315155	NM_001099282.2(ZNF239):c.929A>T (p.Gln310Leu)	ZNF239 (Q352L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310009	NM_001099282.2(ZNF239):c.895G>A (p.Gly299Ser)	ZNF239 (G299S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388489	NM_001099282.2(ZNF239):c.881A>G (p.Asp294Gly)	ZNF239 (D407G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459682	NM_001099282.2(ZNF239):c.862G>A (p.Glu288Lys)	ZNF239 (E288K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214234	NM_001099282.2(ZNF239):c.800A>G (p.Lys267Arg)	ZNF239 (K267R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376431	NM_001099282.2(ZNF239):c.784C>G (p.Pro262Ala)	ZNF239 (P375A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194646	NM_001099282.2(ZNF239):c.762G>C (p.Gln254His)	ZNF239 (Q254H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335242	NM_001099282.2(ZNF239):c.652C>G (p.Gln218Glu)	ZNF239 (Q260E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194645	NM_001099282.2(ZNF239):c.648C>G (p.Phe216Leu)	ZNF239 (F258L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458618	NM_001099282.2(ZNF239):c.533C>G (p.Pro178Arg)	ZNF239 (P220R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194644	NM_001099282.2(ZNF239):c.476G>T (p.Gly159Val)	ZNF239 (G272V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194643	NM_001099282.2(ZNF239):c.442G>A (p.Asp148Asn)	ZNF239 (D190N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194642	NM_001099282.2(ZNF239):c.301A>T (p.Ser101Cys)	ZNF239 (S143C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299052	NM_001099282.2(ZNF239):c.199A>C (p.Lys67Gln)	ZNF239 (K67Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536713	NM_001099282.2(ZNF239):c.145A>C (p.Thr49Pro)	ZNF239 (T162P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287896	NM_001099282.2(ZNF239):c.82T>G (p.Ser28Ala)	ZNF239 (S28A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280781	NM_001099282.2(ZNF239):c.32G>A (p.Cys11Tyr)	ZNF239 (C53Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539799	NM_001099282.2(ZNF239):c.11C>T (p.Thr4Ile)	ZNF239 (T4I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527583	GRCh37/hg19 10q11.21(chr10:43683704-44151599)	FXYD4, HNRNPF +4 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443388	GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3	BMS1, CSGALNACT2 +8 more	Copy number gain	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 51