ZSCAN20[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 145637	GRCh38/hg38 1p35.1(chr1:33411353-33916406)x3	CSMD2, CSMD2-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2301321	NM_001377376.1(ZSCAN20):c.11C>G (p.Ala4Gly)	ZSCAN20 (A4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533602	NM_001377376.1(ZSCAN20):c.109T>C (p.Trp37Arg)	ZSCAN20 (W37R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3199357	NM_001377376.1(ZSCAN20):c.149C>G (p.Ser50Cys)	ZSCAN20 (S50C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272518	NM_001377376.1(ZSCAN20):c.254G>A (p.Arg85His)	ZSCAN20 (R85H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220323	NM_001377376.1(ZSCAN20):c.262G>A (p.Glu88Lys)	ZSCAN20 (E88K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220324	NM_001377376.1(ZSCAN20):c.263A>T (p.Glu88Val)	ZSCAN20 (E88V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199364	NM_001377376.1(ZSCAN20):c.313A>G (p.Arg105Gly)	ZSCAN20 (R105G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360182	NM_001377376.1(ZSCAN20):c.370G>A (p.Ala124Thr)	ZSCAN20 (A124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260394	NM_001377376.1(ZSCAN20):c.406G>T (p.Ala136Ser)	ZSCAN20 (A136S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199365	NM_001377376.1(ZSCAN20):c.447G>T (p.Arg149Ser)	ZSCAN20 (R149S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404890	NM_001377376.1(ZSCAN20):c.520C>A (p.Gln174Lys)	ZSCAN20 (Q174K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249294	NM_001377376.1(ZSCAN20):c.734C>T (p.Pro245Leu)	ZSCAN20 (P245L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533844	NM_001377376.1(ZSCAN20):c.748G>A (p.Gly250Arg)	ZSCAN20 (G250R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262394	NM_001377376.1(ZSCAN20):c.754A>T (p.Ser252Cys)	ZSCAN20 (S252C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344034	NM_001377376.1(ZSCAN20):c.757G>A (p.Val253Met)	ZSCAN20 (V253M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357315	NM_001377376.1(ZSCAN20):c.811G>A (p.Gly271Arg)	ZSCAN20 (G217R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551158	NM_001377376.1(ZSCAN20):c.865G>A (p.Asp289Asn)	ZSCAN20 (D289N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199367	NM_001377376.1(ZSCAN20):c.961G>A (p.Val321Met)	ZSCAN20 (V267M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348467	NM_001377376.1(ZSCAN20):c.1042C>T (p.Arg348Trp)	ZSCAN20 (R294W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461625	NM_001377376.1(ZSCAN20):c.1072C>T (p.Arg358Trp)	ZSCAN20 (R40W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292514	NM_001377376.1(ZSCAN20):c.1118T>C (p.Leu373Pro)	ZSCAN20 (L373P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352133	NM_001377376.1(ZSCAN20):c.1138G>T (p.Val380Phe)	ZSCAN20 (V62F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199352	NM_001377376.1(ZSCAN20):c.1153C>T (p.Arg385Trp)	ZSCAN20 (R331W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232060	NM_001377376.1(ZSCAN20):c.1162C>T (p.Arg388Trp)	ZSCAN20 (R70W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199353	NM_001377376.1(ZSCAN20):c.1163G>A (p.Arg388Gln)	ZSCAN20 (R334Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199354	NM_001377376.1(ZSCAN20):c.1225G>A (p.Val409Ile)	ZSCAN20 (V355I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199355	NM_001377376.1(ZSCAN20):c.1361G>A (p.Cys454Tyr)	ZSCAN20 (C400Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602041	NM_001377376.1(ZSCAN20):c.1431C>A (p.Phe477Leu)	ZSCAN20 (F159L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199356	NM_001377376.1(ZSCAN20):c.1455C>G (p.His485Gln)	ZSCAN20 (H167Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199358	NM_001377376.1(ZSCAN20):c.1552C>T (p.Arg518Trp)	ZSCAN20 (R200W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360770	NM_001377376.1(ZSCAN20):c.1568G>A (p.Arg523Gln)	ZSCAN20 (R205Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304362	NM_001377376.1(ZSCAN20):c.1672A>G (p.Thr558Ala)	ZSCAN20 (T558A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603106	NM_001377376.1(ZSCAN20):c.1766G>C (p.Arg589Thr)	ZSCAN20 (R535T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295503	NM_001377376.1(ZSCAN20):c.1823A>G (p.Asn608Ser)	ZSCAN20 (N290S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552856	NM_001377376.1(ZSCAN20):c.1929G>C (p.Glu643Asp)	ZSCAN20 (E325D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199360	NM_001377376.1(ZSCAN20):c.2089C>G (p.Leu697Val)	ZSCAN20 (L379V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199361	NM_001377376.1(ZSCAN20):c.2117C>T (p.Ala706Val)	ZSCAN20 (A388V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365622	NM_001377376.1(ZSCAN20):c.2143T>G (p.Cys715Gly)	ZSCAN20 (C397G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199362	NM_001377376.1(ZSCAN20):c.2372A>G (p.Glu791Gly)	ZSCAN20 (E737G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248631	NM_001377376.1(ZSCAN20):c.2410A>C (p.Asn804His)	ZSCAN20 (N750H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199363	NM_001377376.1(ZSCAN20):c.2561A>T (p.Gln854Leu)	ZSCAN20 (Q536L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271662	NM_001377376.1(ZSCAN20):c.2702A>T (p.Lys901Ile)	ZSCAN20 (K583I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305421	NM_001377376.1(ZSCAN20):c.2804A>G (p.Asp935Gly)	ZSCAN20 (D881G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374828	NM_001377376.1(ZSCAN20):c.2957C>T (p.Pro986Leu)	ZSCAN20 (P668L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263053	NM_001377376.1(ZSCAN20):c.3002G>C (p.Ser1001Thr)	ZSCAN20 (S1001T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526281	NM_001377376.1(ZSCAN20):c.3018G>C (p.Gln1006His)	ZSCAN20 (Q1006H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 688775	GRCh37/hg19 1p35.1(chr1:33872592-34425324)x3	CSMD2, HMGB4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395171	GRCh37/hg19 1p35.1(chr1:33878903-34381948)x3	CSMD2, HMGB4 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 59