ZFP69[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 2285473	NM_001320179.2(ZFP69):c.13C>T (p.Leu5Phe)	ZFP69 (L5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597186	NM_001320179.2(ZFP69):c.76G>A (p.Val26Met)	ZFP69 (V26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268840	NM_001320179.2(ZFP69):c.203C>T (p.Pro68Leu)	ZFP69 (P68L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476492	NM_001320179.2(ZFP69):c.225G>T (p.Leu75Phe)	ZFP69 (L75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334518	NM_001320179.2(ZFP69):c.241A>G (p.Ile81Val)	ZFP69 (I81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345236	NM_001320179.2(ZFP69):c.242T>C (p.Ile81Thr)	ZFP69 (I81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605990	NM_001320179.2(ZFP69):c.247A>G (p.Ile83Val)	ZFP69 (I83V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193196	NM_001320179.2(ZFP69):c.305G>A (p.Arg102Gln)	ZFP69 (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767668	NM_001320179.2(ZFP69):c.337G>C (p.Val113Leu)	ZFP69 (V113L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2285474	NM_001320179.2(ZFP69):c.349T>C (p.Tyr117His)	ZFP69 (Y118H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230031	NM_001320179.2(ZFP69):c.508T>C (p.Tyr170His)	EXO5-DT, ZFP69 (Y170H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604436	NM_001320179.2(ZFP69):c.637A>C (p.Ile213Leu)	EXO5-DT, ZFP69 (I214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193197	NM_001320179.2(ZFP69):c.644C>T (p.Thr215Ile)	EXO5-DT, ZFP69 (T215I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334520	NM_001320179.2(ZFP69):c.647A>C (p.His216Pro)	EXO5-DT, ZFP69 (H216P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193198	NM_001320179.2(ZFP69):c.655A>G (p.Arg219Gly)	EXO5-DT, ZFP69 (R219G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307832	NM_001320179.2(ZFP69):c.656G>T (p.Arg219Ile)	EXO5-DT, ZFP69 (R220I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331942	NM_001320179.2(ZFP69):c.737A>G (p.Asp246Gly)	EXO5-DT, ZFP69 (D246G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334695	NM_001320179.2(ZFP69):c.751C>T (p.Arg251Trp)	EXO5-DT, ZFP69 (R252W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287694	NM_001320179.2(ZFP69):c.796A>C (p.Ile266Leu)	EXO5-DT, ZFP69 (I267L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600085	NM_001320179.2(ZFP69):c.817T>A (p.Cys273Ser)	EXO5-DT, ZFP69 (C274S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234222	NM_001320179.2(ZFP69):c.839T>A (p.Phe280Tyr)	EXO5-DT, ZFP69 (F280Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334519	NM_001320179.2(ZFP69):c.872G>T (p.Arg291Ile)	EXO5-DT, ZFP69 (R291I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370410	NM_001320179.2(ZFP69):c.924T>A (p.Phe308Leu)	EXO5-DT, ZFP69 (F308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193199	NM_001320179.2(ZFP69):c.952C>G (p.Gln318Glu)	EXO5-DT, ZFP69 (Q318E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620042	NM_001320179.2(ZFP69):c.954G>C (p.Gln318His)	EXO5-DT, ZFP69 (Q318H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604203	NM_001320179.2(ZFP69):c.967G>A (p.Gly323Ser)	EXO5-DT, ZFP69 (G324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638722	NM_001320179.2(ZFP69):c.1038T>C (p.His346=)	EXO5-DT, ZFP69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330203	NM_001320179.2(ZFP69):c.1204A>G (p.Ile402Val)	EXO5-DT, ZFP69 (I402V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382685	NM_001320179.2(ZFP69):c.1205T>C (p.Ile402Thr)	EXO5-DT, ZFP69 (I402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266312	NM_001320179.2(ZFP69):c.1345A>G (p.Arg449Gly)	EXO5-DT, ZFP69 (R449G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248296	NM_001320179.2(ZFP69):c.1370A>G (p.His457Arg)	EXO5-DT, ZFP69 (H457R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251817	NM_001320179.2(ZFP69):c.1411C>T (p.Arg471Cys)	EXO5-DT, ZFP69 (R472C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359886	NM_001320179.2(ZFP69):c.1412G>A (p.Arg471His)	EXO5-DT, ZFP69 (R472H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252059	NM_001320179.2(ZFP69):c.1422A>C (p.Lys474Asn)	EXO5-DT, ZFP69 (K474N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193193	NM_001320179.2(ZFP69):c.1471G>A (p.Gly491Arg)	EXO5-DT, ZFP69 (G491R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193194	NM_001320179.2(ZFP69):c.1477A>G (p.Lys493Glu)	EXO5-DT, ZFP69 (K493E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208598	NM_001320179.2(ZFP69):c.1484A>T (p.Tyr495Phe)	EXO5-DT, ZFP69 (Y495F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334517	NM_001320179.2(ZFP69):c.1495G>A (p.Glu499Lys)	EXO5-DT, ZFP69 (E500K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193195	NM_001320179.2(ZFP69):c.1535G>A (p.Arg512Gln)	EXO5-DT, ZFP69 (R512Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247914	NC_000001.10:g.(?_40782775)_(40981338_?)dup	COL9A2, EXO5 +3 more	Duplication	not provided	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 1808029	GRCh37/hg19 1p34.2(chr1:40758393-41009559)x1	COL9A2, EXO5 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Items: 54