ZNF479[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 3258341	NM_001370129.2(ZNF479):c.1430C>T (p.Ser477Phe)	ZNF479 (S477F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353012	NM_001370129.2(ZNF479):c.1377T>A (p.His459Gln)	ZNF479 (H459Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456867	NM_001370129.2(ZNF479):c.1373T>C (p.Ile458Thr)	ZNF479 (I458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196061	NM_001370129.2(ZNF479):c.1358C>T (p.Thr453Ile)	ZNF479 (T453I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466358	NM_001370129.2(ZNF479):c.1256G>A (p.Ser419Asn)	ZNF479 (S419N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258342	NM_001370129.2(ZNF479):c.1175G>A (p.Arg392His)	ZNF479 (R392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596990	NM_001370129.2(ZNF479):c.1145C>T (p.Thr382Ile)	ZNF479 (T382I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196060	NM_001370129.2(ZNF479):c.1093T>G (p.Ser365Ala)	ZNF479 (S365A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277775	NM_001370129.2(ZNF479):c.1079A>G (p.Gln360Arg)	ZNF479 (Q360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196059	NM_001370129.2(ZNF479):c.1037T>C (p.Ile346Thr)	ZNF479 (I346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196058	NM_001370129.2(ZNF479):c.1012T>G (p.Ser338Ala)	ZNF479 (S338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375949	NM_001370129.2(ZNF479):c.945C>G (p.His315Gln)	ZNF479 (H315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196064	NM_001370129.2(ZNF479):c.899A>C (p.Glu300Ala)	ZNF479 (E300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515365	NM_001370129.2(ZNF479):c.895T>A (p.Cys299Ser)	ZNF479 (C299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378321	NM_001370129.2(ZNF479):c.853A>G (p.Thr285Ala)	ZNF479 (T285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196063	NM_001370129.2(ZNF479):c.838C>T (p.Arg280Cys)	ZNF479 (R280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153576	GRCh38/hg38 7p11.2(chr7:57120582-57966167)x1	LOC105375297, LOC132089552 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2541991	NM_001370129.2(ZNF479):c.814G>A (p.Glu272Lys)	ZNF479 (E272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258340	NM_001370129.2(ZNF479):c.809C>T (p.Thr270Met)	ZNF479 (T270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622341	NM_001370129.2(ZNF479):c.763A>G (p.Asn255Asp)	ZNF479 (N255D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657518	NM_001370129.2(ZNF479):c.705T>C (p.His235=)	ZNF479	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3258343	NM_001370129.2(ZNF479):c.683A>C (p.His228Pro)	ZNF479 (H228P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607499	NM_001370129.2(ZNF479):c.658A>G (p.Lys220Glu)	ZNF479 (K220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211140	NM_001370129.2(ZNF479):c.652T>A (p.Cys218Ser)	ZNF479 (C218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488891	NM_001370129.2(ZNF479):c.595C>T (p.His199Tyr)	ZNF479 (H199Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196062	NM_001370129.2(ZNF479):c.518A>G (p.Asn173Ser)	ZNF479 (N173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258346	NM_001370129.2(ZNF479):c.515C>T (p.Ser172Phe)	ZNF479 (S172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258344	NM_001370129.2(ZNF479):c.388A>C (p.Lys130Gln)	ZNF479 (K130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342673	NM_001370129.2(ZNF479):c.375T>A (p.Phe125Leu)	ZNF479 (F125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368914	NM_001370129.2(ZNF479):c.359A>C (p.His120Pro)	ZNF479 (H120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368006	NM_001370129.2(ZNF479):c.359A>G (p.His120Arg)	ZNF479 (H120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254308	NM_001370129.2(ZNF479):c.358C>T (p.His120Tyr)	ZNF479 (H120Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561285	NM_001370129.2(ZNF479):c.300G>C (p.Glu100Asp)	ZNF479 (E100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318748	NM_001370129.2(ZNF479):c.245T>C (p.Met82Thr)	ZNF479 (M82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542129	NM_001370129.2(ZNF479):c.197C>T (p.Thr66Ile)	ZNF479 (T66I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205884	NM_001370129.2(ZNF479):c.135G>A (p.Met45Ile)	ZNF479 (M45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462103	NM_001370129.2(ZNF479):c.133A>G (p.Met45Val)	ZNF479 (M45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258345	NM_001370129.2(ZNF479):c.67A>G (p.Ile23Val)	ZNF479 (I23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151312	GRCh38/hg38 7p11.2(chr7:57130102-57649953)x1	LOC105375297, LOC132089552 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2557778	NM_001370129.2(ZNF479):c.32G>A (p.Arg11Gln)	ZNF479 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 929401	GRCh37/hg19 7p11.2(chr7:57127051-57528311)x3	ZNF479, ZNF716	Copy number gain	See cases	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 443460	GRCh37/hg19 7p11.2(chr7:56648070-57322282)x3	ZNF479	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56