ClinVar for Gene (Select 9183) - ClinVar

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

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3199633	NM_004724.4(ZW10):c.674G>T (p.Ser225Ile)	ZW10 (S225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199632	NM_004724.4(ZW10):c.661A>G (p.Met221Val)	ZW10 (M221V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199631	NM_004724.4(ZW10):c.613G>A (p.Glu205Lys)	ZW10 (E205K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199630	NM_004724.4(ZW10):c.463G>T (p.Asp155Tyr)	ZW10 (D155Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199629	NM_004724.4(ZW10):c.451A>G (p.Arg151Gly)	ZW10 (R151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199628	NM_004724.4(ZW10):c.362A>G (p.Glu121Gly)	ZW10 (E121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199626	NM_004724.4(ZW10):c.268G>A (p.Gly90Ser)	ZW10 (G90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199625	NM_004724.4(ZW10):c.1879C>T (p.Arg627Trp)	ZW10 (R627W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2597012	NM_004724.4(ZW10):c.1319A>G (p.Asp440Gly)	ZW10 (D440G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589159	NM_004724.4(ZW10):c.167C>T (p.Ala56Val)	ZW10 (A56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543808	NM_004724.4(ZW10):c.1702T>C (p.Cys568Arg)	ZW10 (C568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541000	NM_004724.4(ZW10):c.33C>G (p.His11Gln)	LOC130006774, ZW10 (H11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507787	NM_004724.4(ZW10):c.410G>A (p.Arg137His)	ZW10 (R137H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396002	NM_004724.4(ZW10):c.2119A>G (p.Lys707Glu)	ZW10 (K707E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380963	NM_004724.4(ZW10):c.1634G>C (p.Cys545Ser)	ZW10 (C545S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379356	NM_004724.4(ZW10):c.605T>C (p.Leu202Pro)	ZW10 (L202P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379148	NM_004724.4(ZW10):c.1324G>T (p.Asp442Tyr)	ZW10 (D442Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372868	NM_004724.4(ZW10):c.1468G>A (p.Ala490Thr)	ZW10 (A490T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365977	NM_004724.4(ZW10):c.2285G>A (p.Arg762His)	ZW10 (R762H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353833	NM_004724.4(ZW10):c.946C>A (p.Leu316Met)	ZW10 (L316M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333621	NM_004724.4(ZW10):c.2102C>T (p.Ser701Phe)	ZW10 (S701F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303894	NM_004724.4(ZW10):c.1433G>A (p.Arg478His)	ZW10 (R478H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298155	NM_004724.4(ZW10):c.2307A>C (p.Glu769Asp)	ZW10 (E769D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291027	NM_004724.4(ZW10):c.698T>C (p.Val233Ala)	ZW10 (V233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285480	NM_004724.4(ZW10):c.743T>G (p.Leu248Arg)	ZW10 (L248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259318	NM_004724.4(ZW10):c.1807A>G (p.Arg603Gly)	ZW10 (R603G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246693	NM_004724.4(ZW10):c.827G>A (p.Arg276His)	ZW10 (R276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243617	NM_004724.4(ZW10):c.1656G>T (p.Leu552Phe)	ZW10 (L552F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231727	NM_004724.4(ZW10):c.409C>T (p.Arg137Cys)	ZW10 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214806	NM_004724.4(ZW10):c.845C>T (p.Thr282Ile)	ZW10 (T282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 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 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	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 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 815473	GRCh37/hg19 11q23.2(chr11:113441348-113645902)x3	ZW10, TMPRSS5	Copy number gain	not provided	GUncertain significance
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 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
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 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	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 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48