ClinVar for Gene (Select 441234) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2657520	NM_001159279.1(ZNF716):c.804T>G (p.Pro268=)	ZNF716	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657519	NM_001159279.1(ZNF716):c.132G>A (p.Val44=)	ZNF716	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2492474	NM_001159279.1(ZNF716):c.1230T>G (p.Cys410Trp)	ZNF716 (C410W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455459	NM_001159279.1(ZNF716):c.883C>G (p.Pro295Ala)	ZNF716 (P295A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410784	NM_001159279.1(ZNF716):c.1277A>G (p.His426Arg)	ZNF716 (H426R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406082	NM_001159279.1(ZNF716):c.589C>G (p.Leu197Val)	ZNF716 (L197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392062	NM_001159279.1(ZNF716):c.146A>G (p.Tyr49Cys)	ZNF716 (Y49C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385364	NM_001159279.1(ZNF716):c.1033G>A (p.Val345Ile)	ZNF716 (V345I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2375516	NM_001159279.1(ZNF716):c.713A>G (p.Glu238Gly)	ZNF716 (E238G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368121	NM_001159279.1(ZNF716):c.1331C>G (p.Ala444Gly)	ZNF716 (A444G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364947	NM_001159279.1(ZNF716):c.935C>A (p.Thr312Asn)	ZNF716 (T312N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363637	NM_001159279.1(ZNF716):c.621T>A (p.His207Gln)	ZNF716 (H207Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355903	NM_001159279.1(ZNF716):c.725G>C (p.Arg242Thr)	ZNF716 (R242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348772	NM_001159279.1(ZNF716):c.1468A>C (p.Lys490Gln)	ZNF716 (K490Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346390	NM_001159279.1(ZNF716):c.36A>C (p.Glu12Asp)	ZNF716 (E12D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320453	NM_001159279.1(ZNF716):c.26G>A (p.Gly9Glu)	ZNF716 (G9E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310058	NM_001159279.1(ZNF716):c.1018A>G (p.Lys340Glu)	ZNF716 (K340E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261798	NM_001159279.1(ZNF716):c.492A>C (p.Lys164Asn)	ZNF716 (K164N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236147	NM_001159279.1(ZNF716):c.596G>A (p.Arg199His)	ZNF716 (R199H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233830	NM_001159279.1(ZNF716):c.668A>G (p.Asn223Ser)	ZNF716 (N223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 814976	GRCh37/hg19 7p11.2(chr7:57252805-57923840)x3	ZNF716	Copy number gain	not provided	GLikely benign
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 563377	GRCh37/hg19 7p11.2-11.1(chr7:57261122-58025410)x3	ZNF716	Copy number gain	not provided	GLikely benign
Select item 443818	GRCh37/hg19 7p11.2(chr7:57261122-57950667)x3	ZNF716	Copy number gain	See cases	GUncertain significance
Select item 443029	GRCh37/hg19 7p11.2-11.1(chr7:57524118-58025410)x3	ZNF716	Copy number gain	See cases	GLikely benign
Select item 442862	GRCh37/hg19 7p11.2(chr7:57252722-57919516)x3	ZNF716	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442679	GRCh37/hg19 7p11.2(chr7:57261122-57832850)x3	ZNF716	Copy number gain	See cases	GLikely benign
Select item 442308	GRCh37/hg19 7p11.2(chr7:57261122-57923504)x3	ZNF716	Copy number gain	See cases	GLikely benign
Select item 442065	GRCh37/hg19 7p11.2(chr7:57261122-57950845)x3	ZNF716	Copy number gain	See cases	GUncertain significance
Select item 442058	GRCh37/hg19 7p11.2(chr7:57261122-57919405)x3	ZNF716	Copy number gain	See cases	Gconflicting data from submitters
Select item 442053	GRCh37/hg19 7p11.2(chr7:57260919-57936172)x3	ZNF716	Copy number gain	See cases	GUncertain significance
Select item 442003	GRCh37/hg19 7p11.2(chr7:57261122-57914510)x3	ZNF716	Copy number gain	See cases	GUncertain significance
Select item 441688	GRCh37/hg19 7p11.2(chr7:57261122-57914385)x3	ZNF716	Copy number gain	See cases	GUncertain significance
Select item 441678	GRCh37/hg19 7p11.2(chr7:57261122-57861682)x3	ZNF716	Copy number gain	See cases	GUncertain significance
Select item 441578	GRCh37/hg19 7p11.2(chr7:57252722-57914510)x3	ZNF716	Copy number gain	See cases	GUncertain significance
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
Select item 223124	NC_000007.13:g.(?_57260919)_(57882330_?)dup	ZNF716	Duplication	Autism spectrum disorder	GUncertain significance
Select item 221825	GRCh37/hg19 7p11.2(chr7:57481104-57621951)x3	ZNF716	Copy number gain	Premature ovarian failure	GBenign
Select item 157054	Single allele	ZNF716	Duplication	Preeclampsia	Gnot provided
Select item 155524	GRCh38/hg38 7p11.2(chr7:57144128-57966167)x3	LOC105375297, LOC132089552 +3 more	Copy number gain	See cases	GUncertain significance
Select item 155365	GRCh38/hg38 7p11.2(chr7:57233248-57966167)x3	LOC132089552, MIR3147 +2 more	Copy number gain	See cases	GLikely benign
Select item 155343	GRCh38/hg38 7p11.2(chr7:57166206-57819147)x3	LOC105375297, LOC132089552 +3 more	Copy number gain	See cases	GUncertain significance
Select item 155070	GRCh38/hg38 7p11.2(chr7:57193415-57846998)x3	LOC105375297, LOC132089552 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 155051	GRCh38/hg38 7p11.2(chr7:57193415-57821414)x3	LOC105375297, LOC132089552 +3 more	Copy number gain	See cases	GLikely benign
Select item 154139	GRCh38/hg38 7p11.2(chr7:57193415-57859810)x3	LOC105375297, LOC132089552 +3 more	Copy number gain	See cases	GLikely benign
Select item 153576	GRCh38/hg38 7p11.2(chr7:57120582-57966167)x1	LOC105375297, LOC132089552 +4 more	Copy number loss	See cases	GUncertain significance
Select item 153523	GRCh38/hg38 7p11.2(chr7:57193415-57863780)x3	LOC105375297, LOC132089552 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 153486	GRCh38/hg38 7p11.2(chr7:57193415-57864134)x3	LOC105375297, LOC132089552 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 153217	GRCh38/hg38 7p11.2(chr7:57193415-57818047)x3	LOC105375297, LOC132089552 +3 more	Copy number gain	See cases	GLikely benign
Select item 152303	GRCh38/hg38 7p11.2(chr7:57233248-57965704)x3	LOC132089552, MIR3147 +2 more	Copy number gain	See cases	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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	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 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 69