ClinVar for Gene (Select 51032) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265712	NM_015849.3(CELA2B):c.203T>A (p.Val68Asp)	CELA2B (V68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3141922	NM_015849.3(CELA2B):c.797T>C (p.Ile266Thr)	CELA2B (I266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141921	NM_015849.3(CELA2B):c.682C>T (p.Arg228Trp)	CELA2B (R228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141920	NM_015849.3(CELA2B):c.677A>T (p.Asp226Val)	CELA2B (D226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141919	NM_015849.3(CELA2B):c.391G>A (p.Val131Ile)	CELA2B (V131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141918	NM_015849.3(CELA2B):c.298G>A (p.Val100Ile)	CELA2B (V100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141917	NM_015849.3(CELA2B):c.286G>A (p.Gly96Ser)	CELA2B (G96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141916	NM_015849.3(CELA2B):c.239T>C (p.Ile80Thr)	CELA2B (I80T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141915	NM_015849.3(CELA2B):c.209C>T (p.Thr70Met)	CELA2B (T70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2604960	NM_015849.3(CELA2B):c.578G>A (p.Gly193Asp)	CELA2B (G193D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485471	NM_015849.3(CELA2B):c.274G>A (p.Val92Ile)	CELA2B (V92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475656	NM_015849.3(CELA2B):c.683G>A (p.Arg228Gln)	CELA2B (R228Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461074	NM_015849.3(CELA2B):c.175G>A (p.Gly59Arg)	CELA2B (G59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2401121	NM_015849.3(CELA2B):c.157C>A (p.Gln53Lys)	CELA2B (Q53K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390883	NM_015849.3(CELA2B):c.607G>C (p.Ala203Pro)	CELA2B (A203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388139	NM_015849.3(CELA2B):c.104C>T (p.Ala35Val)	CELA2B (A35V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 782359	NM_015849.3(CELA2B):c.696T>C (p.His232=)	CELA2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584380	NC_000001.10:g.(?_15764961)_(16063358_?)del	AGMAT, CASP9 +8 more	Deletion	Hereditary pancreatitis	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 156730	Single allele	CELA2A, CELA2B	Deletion	Normal pregnancy	Gnot provided
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 46