CELA3A[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 148288	GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3	ALPL, CELA3A +31 more	Copy number gain	See cases	GUncertain significance
Select item 2665068	GRCh38/hg38 1p36.12(chr1:21999190-22063093)	CDC42, CELA3A +9 more	Copy number gain	not provided	GUncertain significance
Select item 2553317	NM_005747.5(CELA3A):c.10C>T (p.Arg4Trp)	CELA3A (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220218	NM_005747.5(CELA3A):c.82C>T (p.Arg28Cys)	CELA3A (R28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265714	NM_005747.5(CELA3A):c.190G>A (p.Ala64Thr)	CELA3A (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141923	NM_005747.5(CELA3A):c.231G>C (p.Arg77Ser)	CELA3A (R77S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315010	NM_005747.5(CELA3A):c.232G>T (p.Asp78Tyr)	CELA3A (D78Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314550	NM_005747.5(CELA3A):c.233A>C (p.Asp78Ala)	CELA3A (D78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263659	NM_005747.5(CELA3A):c.291G>C (p.Glu97Asp)	CELA3A (E97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239925	NM_005747.5(CELA3A):c.295G>T (p.Val99Leu)	CELA3A (V99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141924	NM_005747.5(CELA3A):c.373G>A (p.Ala125Thr)	CELA3A (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265715	NM_005747.5(CELA3A):c.420G>T (p.Gln140His)	CELA3A (Q140H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141926	NM_005747.5(CELA3A):c.439G>A (p.Ala147Thr)	CELA3A (A147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298945	NM_005747.5(CELA3A):c.464C>T (p.Thr155Ile)	CELA3A (T155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400099	NM_005747.5(CELA3A):c.518A>C (p.Asp173Ala)	CELA3A (D173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257363	NM_005747.5(CELA3A):c.519C>G (p.Asp173Glu)	CELA3A (D173E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595863	NM_005747.5(CELA3A):c.536G>A (p.Arg179Gln)	CELA3A (R179Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141927	NM_005747.5(CELA3A):c.547G>A (p.Val183Met)	CELA3A (V183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141928	NM_005747.5(CELA3A):c.589A>T (p.Thr197Ser)	CELA3A (T197S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141929	NM_005747.5(CELA3A):c.628C>T (p.Arg210Cys)	CELA3A (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141930	NM_005747.5(CELA3A):c.632C>T (p.Ser211Phe)	CELA3A (S211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141931	NM_005747.5(CELA3A):c.737T>C (p.Phe246Ser)	CELA3A (F246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141932	NM_005747.5(CELA3A):c.739A>C (p.Ile247Leu)	CELA3A (I247L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365450	NM_005747.5(CELA3A):c.740T>G (p.Ile247Ser)	CELA3A (I247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365451	NM_005747.5(CELA3A):c.742T>A (p.Trp248Arg)	CELA3A (W248R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589005	NM_005747.5(CELA3A):c.778A>G (p.Ile260Val)	CELA3A (I260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350888	NM_005747.5(CELA3A):c.780C>G (p.Ile260Met)	CELA3A (I260M)	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 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
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 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 394413	GRCh37/hg19 1p36.12(chr1:22303497-22329511)x3	CELA3A, CELA3B	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 41