ZNF334[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2300349	NM_001353824.2(ZNF334):c.2025G>T (p.Gln675His)	ZNF334 (Q698H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477032	NM_001353824.2(ZNF334):c.1996C>T (p.Arg666Cys)	ZNF334 (R628C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195211	NM_001353824.2(ZNF334):c.1973G>T (p.Cys658Phe)	ZNF334 (C657F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335502	NM_001353824.2(ZNF334):c.1959G>C (p.Glu653Asp)	ZNF334 (E652D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528446	NM_001353824.2(ZNF334):c.1927C>G (p.Leu643Val)	ZNF334 (L605V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335497	NM_001353824.2(ZNF334):c.1916G>A (p.Arg639His)	ZNF334 (R601H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195210	NM_001353824.2(ZNF334):c.1913G>A (p.Arg638His)	ZNF334 (R633H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195209	NM_001353824.2(ZNF334):c.1882T>C (p.Tyr628His)	ZNF334 (Y628H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393173	NM_001353824.2(ZNF334):c.1860A>T (p.Arg620Ser)	ZNF334 (R619S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217144	NM_001353824.2(ZNF334):c.1856G>C (p.Arg619Thr)	ZNF334 (R581T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480691	NM_001353824.2(ZNF334):c.1829G>T (p.Cys610Phe)	ZNF334 (C609F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520499	NM_001353824.2(ZNF334):c.1813T>G (p.Cys605Gly)	ZNF334 (C567G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362843	NM_001353824.2(ZNF334):c.1775G>A (p.Arg592Gln)	ZNF334 (R554Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377913	NM_001353824.2(ZNF334):c.1726G>A (p.Glu576Lys)	ZNF334 (E538K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286464	NM_001353824.2(ZNF334):c.1715A>G (p.Tyr572Cys)	ZNF334 (Y534C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195208	NM_001353824.2(ZNF334):c.1703G>A (p.Gly568Glu)	ZNF334 (G575E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624387	NM_001353824.2(ZNF334):c.1683C>A (p.His561Gln)	ZNF334 (H556Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398785	NM_001353824.2(ZNF334):c.1576G>A (p.Val526Ile)	ZNF334 (V488I +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313787	NM_001353824.2(ZNF334):c.1544A>C (p.Asn515Thr)	ZNF334 (N510T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325005	NM_001353824.2(ZNF334):c.1468G>A (p.Val490Met)	ZNF334 (V485M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335499	NM_001353824.2(ZNF334):c.1390A>G (p.Asn464Asp)	ZNF334 (N471D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335500	NM_001353824.2(ZNF334):c.1369G>A (p.Gly457Arg)	ZNF334 (G464R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611988	NM_001353824.2(ZNF334):c.1358T>C (p.Ile453Thr)	ZNF334 (I460T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395686	NM_001353824.2(ZNF334):c.1262A>G (p.Asn421Ser)	ZNF334 (N383S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195206	NM_001353824.2(ZNF334):c.1252T>A (p.Ser418Thr)	ZNF334 (S413T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248322	NM_001353824.2(ZNF334):c.1181C>T (p.Ala394Val)	ZNF334 (A356V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346501	NM_001353824.2(ZNF334):c.1140G>C (p.Lys380Asn)	ZNF334 (K375N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405488	NM_001353824.2(ZNF334):c.1085C>T (p.Ser362Leu)	ZNF334 (S361L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335503	NM_001353824.2(ZNF334):c.1077C>G (p.Ser359Arg)	ZNF334 (S321R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347509	NM_001353824.2(ZNF334):c.1016A>G (p.His339Arg)	ZNF334 (H362R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215936	NM_001353824.2(ZNF334):c.994C>T (p.Arg332Trp)	ZNF334 (R294W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510261	NM_001353824.2(ZNF334):c.878A>G (p.Tyr293Cys)	ZNF334 (Y293C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483223	NM_001353824.2(ZNF334):c.845G>A (p.Arg282Gln)	ZNF334 (R277Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529843	NM_001353824.2(ZNF334):c.748T>A (p.Ser250Thr)	ZNF334 (S249T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321249	NM_001353824.2(ZNF334):c.667A>G (p.Ile223Val)	ZNF334 (I222V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312138	NM_001353824.2(ZNF334):c.664G>C (p.Ala222Pro)	ZNF334 (A184P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377141	NM_001353824.2(ZNF334):c.593T>C (p.Leu198Pro)	ZNF334 (L205P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335498	NM_001353824.2(ZNF334):c.512A>G (p.His171Arg)	ZNF334 (H133R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335504	NM_001353824.2(ZNF334):c.230A>G (p.Gln77Arg)	ZNF334 (Q72R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335501	NM_001353824.2(ZNF334):c.226A>T (p.Asn76Tyr)	ZNF334 (N38Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596160	NM_001353824.2(ZNF334):c.226A>C (p.Asn76His)	ZNF334 (N83H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224106	NM_001353824.2(ZNF334):c.142T>C (p.Ser48Pro)	ZNF334 (L53P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369474	NM_001353824.2(ZNF334):c.109G>A (p.Asp37Asn)	ZNF334 (D44N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195212	NM_001353824.2(ZNF334):c.96G>T (p.Arg32Ser)	ZNF334 (R31S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248346	NC_000020.10:g.(?_44577592)_(45362473_?)del	CD40, CDH22 +12 more	Deletion	not provided	GPathogenic
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 687504	GRCh37/hg19 20q13.12(chr20:45002981-45243034)x3	ELMO2, OCSTAMP +3 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 54