ZNF514[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 148257	GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3	FAHD2A, FAM95A +26 more	Copy number gain	See cases	GLikely benign
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 152512	GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3	FAHD2A, KCNIP3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148297	GRCh38/hg38 2q11.1(chr2:95134069-95493527)x1	FAHD2A, KCNIP3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 155574	GRCh38/hg38 2q11.1(chr2:95143653-95431499)x1	FAHD2A, KCNIP3 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2284571	NM_032788.3(ZNF514):c.1145C>T (p.Ala382Val)	ZNF514 (A455V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196328	NM_032788.3(ZNF514):c.1115A>G (p.Tyr372Cys)	ZNF514 (Y372C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196327	NM_032788.3(ZNF514):c.1054G>A (p.Ala352Thr)	ZNF514 (A352T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297782	NM_032788.3(ZNF514):c.1023G>T (p.Glu341Asp)	ZNF514 (E341D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320153	NM_032788.3(ZNF514):c.953G>A (p.Cys318Tyr)	ZNF514 (C391Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596136	NM_032788.3(ZNF514):c.853G>C (p.Glu285Gln)	ZNF514 (E285Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347246	NM_032788.3(ZNF514):c.710G>A (p.Cys237Tyr)	ZNF514 (C237Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341742	NM_032788.3(ZNF514):c.662G>A (p.Arg221His)	ZNF514 (R221H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196337	NM_032788.3(ZNF514):c.645C>G (p.Phe215Leu)	ZNF514 (F288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196336	NM_032788.3(ZNF514):c.572G>T (p.Gly191Val)	ZNF514 (G191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196335	NM_032788.3(ZNF514):c.521T>C (p.Met174Thr)	ZNF514 (M247T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196334	NM_032788.3(ZNF514):c.520A>T (p.Met174Leu)	ZNF514 (M174L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274486	NM_032788.3(ZNF514):c.520A>C (p.Met174Leu)	ZNF514 (M247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365670	NM_032788.3(ZNF514):c.497T>C (p.Leu166Pro)	ZNF514 (L166P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316177	NM_032788.3(ZNF514):c.452A>G (p.Tyr151Cys)	ZNF514 (Y151C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475743	NM_032788.3(ZNF514):c.448G>A (p.Asp150Asn)	ZNF514 (D223N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196333	NM_032788.3(ZNF514):c.413C>T (p.Ser138Leu)	ZNF514 (S138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322011	NM_032788.3(ZNF514):c.384A>G (p.Ile128Met)	ZNF514 (I201M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371135	NM_032788.3(ZNF514):c.349T>G (p.Cys117Gly)	ZNF514 (C190G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208933	NM_032788.3(ZNF514):c.332C>T (p.Ser111Leu)	ZNF514 (S184L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483364	NM_032788.3(ZNF514):c.331T>C (p.Ser111Pro)	ZNF514 (S111P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196331	NM_032788.3(ZNF514):c.265A>C (p.Ile89Leu)	ZNF514 (I162L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599458	NM_032788.3(ZNF514):c.199T>C (p.Ser67Pro)	ZNF514 (S140P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196330	NM_032788.3(ZNF514):c.187G>A (p.Glu63Lys)	ZNF514 (E136K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196329	NM_032788.3(ZNF514):c.170G>T (p.Gly57Val)	ZNF514 (G130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216678	NM_032788.3(ZNF514):c.150C>G (p.Ile50Met)	ZNF514 (I123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479697	NM_032788.3(ZNF514):c.142T>C (p.Tyr48His)	ZNF514 (Y48H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196338	NM_032788.3(ZNF514):c.90G>A (p.Met30Ile)	ZNF514 (M103I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685856	GRCh37/hg19 2q11.1(chr2:95341687-96259199)x3	FAHD2A, KCNIP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1809050	GRCh37/hg19 2q11.1(chr2:95777121-96248568)x3	FAHD2A, KCNIP3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526874	GRCh37/hg19 2q11.1(chr2:95341387-96735978)	ANKRD36C, FAHD2A +10 more	Copy number loss	not specified	GUncertain significance
Select item 1340501	GRCh37/hg19 2q11.1(chr2:95341686-96193214)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 689146	GRCh37/hg19 2q11.1(chr2:95800306-96097247)x1	FAHD2A, KCNIP3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687921	GRCh37/hg19 2q11.1(chr2:95476818-96193825)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562639	GRCh37/hg19 2q11.1(chr2:95341387-96719347)x1	ANKRD36C, FAHD2A +10 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 221788	GRCh37/hg19 2q11.1(chr2:95444917-95977790)x3	TEKT4, ZNF2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 53