CWF19L2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 3079125	NM_152434.3(CWF19L2):c.2623A>G (p.Lys875Glu)	CWF19L2 (K875E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461678	NM_152434.3(CWF19L2):c.2621A>G (p.Lys874Arg)	CWF19L2 (K874R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484869	NM_152434.3(CWF19L2):c.2564A>C (p.Asp855Ala)	CWF19L2 (D855A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244809	NM_152434.3(CWF19L2):c.2555G>C (p.Gly852Ala)	CWF19L2 (G852A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296691	NM_152434.3(CWF19L2):c.2503A>G (p.Ile835Val)	CWF19L2 (I835V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524251	NM_152434.3(CWF19L2):c.2498A>G (p.His833Arg)	CWF19L2 (H833R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274435	NM_152434.3(CWF19L2):c.2456C>T (p.Pro819Leu)	CWF19L2 (P819L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383429	NM_152434.3(CWF19L2):c.2367A>G (p.Ile789Met)	CWF19L2 (I789M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617980	NM_152434.3(CWF19L2):c.2303A>G (p.Tyr768Cys)	CWF19L2 (Y768C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079124	NM_152434.3(CWF19L2):c.2289G>C (p.Gln763His)	CWF19L2 (Q763H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212670	NM_152434.3(CWF19L2):c.2288A>G (p.Gln763Arg)	CWF19L2 (Q763R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079123	NM_152434.3(CWF19L2):c.2279T>G (p.Met760Arg)	CWF19L2 (M760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246739	NM_152434.3(CWF19L2):c.2252G>A (p.Cys751Tyr)	CWF19L2 (C751Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079122	NM_152434.3(CWF19L2):c.2221G>T (p.Val741Leu)	CWF19L2 (V741L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249384	NM_152434.3(CWF19L2):c.2203A>G (p.Met735Val)	CWF19L2 (M735V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079121	NM_152434.3(CWF19L2):c.2153A>G (p.His718Arg)	CWF19L2 (H718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079120	NM_152434.3(CWF19L2):c.2110C>T (p.Arg704Trp)	CWF19L2 (R704W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079119	NM_152434.3(CWF19L2):c.1999A>T (p.Ser667Cys)	CWF19L2 (S667C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212438	NM_152434.3(CWF19L2):c.1984A>G (p.Ile662Val)	CWF19L2 (I662V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079118	NM_152434.3(CWF19L2):c.1975A>G (p.Lys659Glu)	CWF19L2 (K659E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262463	NM_152434.3(CWF19L2):c.1928A>G (p.Lys643Arg)	CWF19L2 (K643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302730	NM_152434.3(CWF19L2):c.1913A>G (p.Asp638Gly)	CWF19L2 (D638G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454634	NM_152434.3(CWF19L2):c.1721G>T (p.Arg574Ile)	CWF19L2 (R574I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367027	NM_152434.3(CWF19L2):c.1709A>C (p.Gln570Pro)	CWF19L2 (Q570P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235241	NM_152434.3(CWF19L2):c.1690G>A (p.Gly564Arg)	CWF19L2 (G564R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316231	NM_152434.3(CWF19L2):c.1634A>G (p.Glu545Gly)	CWF19L2 (E545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591647	NM_152434.3(CWF19L2):c.1607C>T (p.Ser536Phe)	CWF19L2 (S536F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593197	NM_152434.3(CWF19L2):c.1518G>A (p.Met506Ile)	CWF19L2 (M506I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335892	NM_152434.3(CWF19L2):c.1469T>C (p.Val490Ala)	CWF19L2 (V490A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079117	NM_152434.3(CWF19L2):c.1461C>G (p.Ile487Met)	CWF19L2 (I487M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079116	NM_152434.3(CWF19L2):c.1439C>T (p.Pro480Leu)	CWF19L2 (P480L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235665	NM_152434.3(CWF19L2):c.1276G>C (p.Gly426Arg)	CWF19L2 (G426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279121	NM_152434.3(CWF19L2):c.1261C>T (p.Arg421Cys)	CWF19L2 (R421C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079115	NM_152434.3(CWF19L2):c.1232A>G (p.Asn411Ser)	CWF19L2 (N411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457604	NM_152434.3(CWF19L2):c.1115C>T (p.Ser372Phe)	CWF19L2 (S372F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321358	NM_152434.3(CWF19L2):c.1084G>C (p.Gly362Arg)	CWF19L2 (G362R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322737	NM_152434.3(CWF19L2):c.1082T>C (p.Phe361Ser)	CWF19L2 (F361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538884	NM_152434.3(CWF19L2):c.1037C>T (p.Thr346Met)	CWF19L2 (T346M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079129	NM_152434.3(CWF19L2):c.950G>T (p.Arg317Ile)	CWF19L2 (R317I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488446	NM_152434.3(CWF19L2):c.947A>T (p.Asp316Val)	CWF19L2 (D316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079128	NM_152434.3(CWF19L2):c.710A>T (p.Tyr237Phe)	CWF19L2 (Y237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079127	NM_152434.3(CWF19L2):c.673G>A (p.Val225Ile)	CWF19L2 (V225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216361	NM_152434.3(CWF19L2):c.661A>G (p.Lys221Glu)	CWF19L2 (K221E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482266	NM_152434.3(CWF19L2):c.658A>G (p.Thr220Ala)	CWF19L2 (T220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079126	NM_152434.3(CWF19L2):c.611A>G (p.Asp204Gly)	CWF19L2 (D204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289107	NM_152434.3(CWF19L2):c.599C>T (p.Pro200Leu)	CWF19L2 (P200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384258	NM_152434.3(CWF19L2):c.489A>T (p.Lys163Asn)	CWF19L2 (K163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642348	NM_152434.3(CWF19L2):c.429A>G (p.Lys143=)	CWF19L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509753	NM_152434.3(CWF19L2):c.421T>G (p.Ser141Ala)	CWF19L2 (S141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386786	NM_152434.3(CWF19L2):c.276A>T (p.Glu92Asp)	CWF19L2 (E92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642349	NM_152434.3(CWF19L2):c.201T>C (p.Ile67=)	CWF19L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286741	NM_152434.3(CWF19L2):c.157C>T (p.Arg53Trp)	CWF19L2 (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588463	NM_152434.3(CWF19L2):c.136C>T (p.Arg46Cys)	CWF19L2 (R46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597966	NM_152434.3(CWF19L2):c.83C>T (p.Ala28Val)	CWF19L2 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264298	NM_152434.3(CWF19L2):c.70C>A (p.Gln24Lys)	CWF19L2 (Q24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253836	NM_152434.3(CWF19L2):c.52A>G (p.Ile18Val)	CWF19L2 (I18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393448	NM_152434.3(CWF19L2):c.44C>T (p.Ala15Val)	CWF19L2 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563877	GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1	AASDHPPT, CARD16 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 443741	GRCh37/hg19 11q22.3(chr11:107072930-107283027)x1	CWF19L2	Copy number loss	See cases	GUncertain significance
Select item 442127	GRCh37/hg19 11q22.3(chr11:106767102-107561488)x3	ALKBH8, CWF19L2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic
Select item 254019	GRCh37/hg19 11q22.3(chr11:106959465-107537265)x1	ELMOD1, CWF19L2 +1 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77