ClinVar for Gene (Select 55893) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195513	NM_018660.3(ZNF395):c.931G>T (p.Asp311Tyr)	ZNF395 (D311Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195511	NM_018660.3(ZNF395):c.83C>A (p.Pro28His)	ZNF395 (P28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195510	NM_018660.3(ZNF395):c.414G>T (p.Glu138Asp)	ZNF395 (E138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195509	NM_018660.3(ZNF395):c.358G>A (p.Glu120Lys)	ZNF395 (E120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195508	NM_018660.3(ZNF395):c.176A>G (p.Lys59Arg)	ZNF395 (K59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195507	NM_018660.3(ZNF395):c.1490A>G (p.Gln497Arg)	ZNF395 (Q497R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195506	NM_018660.3(ZNF395):c.1476C>G (p.Ile492Met)	ZNF395 (I492M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195505	NM_018660.3(ZNF395):c.1421G>A (p.Ser474Asn)	ZNF395 (S474N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195504	NM_018660.3(ZNF395):c.1409C>G (p.Pro470Arg)	ZNF395 (P470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195503	NM_018660.3(ZNF395):c.1307C>T (p.Ala436Val)	ZNF395 (A436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2620676	NM_018660.3(ZNF395):c.1001C>G (p.Ala334Gly)	ZNF395 (A334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599509	NM_018660.3(ZNF395):c.1376C>T (p.Ala459Val)	ZNF395 (A459V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593385	NM_018660.3(ZNF395):c.871C>G (p.Leu291Val)	ZNF395 (L291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2567568	NM_018660.3(ZNF395):c.74C>T (p.Ser25Leu)	ZNF395 (S25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563093	NM_018660.3(ZNF395):c.1489C>G (p.Gln497Glu)	ZNF395 (Q497E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525269	NM_018660.3(ZNF395):c.809G>A (p.Arg270Gln)	ZNF395 (R270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516539	NM_018660.3(ZNF395):c.124G>A (p.Ala42Thr)	ZNF395 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482361	NM_018660.3(ZNF395):c.1202T>G (p.Phe401Cys)	ZNF395 (F401C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469941	NM_018660.3(ZNF395):c.935C>T (p.Ser312Phe)	ZNF395 (S312F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404286	NM_018660.3(ZNF395):c.445G>A (p.Val149Ile)	ZNF395 (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403019	NM_018660.3(ZNF395):c.950G>A (p.Arg317Gln)	ZNF395 (R317Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358207	NM_018660.3(ZNF395):c.943T>A (p.Phe315Ile)	ZNF395 (F315I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355838	NM_018660.3(ZNF395):c.53G>A (p.Arg18Gln)	ZNF395 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327265	NM_018660.3(ZNF395):c.89C>G (p.Ala30Gly)	ZNF395 (A30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324201	NM_018660.3(ZNF395):c.133C>A (p.Pro45Thr)	ZNF395 (P45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319166	NM_018660.3(ZNF395):c.1396G>A (p.Val466Ile)	ZNF395 (V466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234751	NM_018660.3(ZNF395):c.1411C>T (p.Arg471Trp)	ZNF395 (R471W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223626	NM_018660.3(ZNF395):c.142A>G (p.Thr48Ala)	ZNF395 (T48A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223064	NM_018660.3(ZNF395):c.593C>T (p.Ala198Val)	ZNF395 (A198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216820	NM_018660.3(ZNF395):c.931G>A (p.Asp311Asn)	ZNF395 (D311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808101	GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3	CCDC25, CHRNA2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1511682	NC_000008.10:g.(?_27319146)_(28608383_?)dup	CCDC25, CHRNA2 +13 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442524	GRCh37/hg19 8p21.1-12(chr8:27501662-29342607)x3	CCDC25, DUSP4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 more	Copy number gain	See cases	GPathogenic
Select item 395101	GRCh37/hg19 8p21.1(chr8:28236568-28385305)x3	FBXO16, FZD3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ALKAL1, ANK1 +133 more	Copy number gain	See cases	GUncertain significance
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic

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