24609[HGNC] - ClinVar

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Items: 54

	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 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	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 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
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 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 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 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
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 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 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 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 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 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	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 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 3265709	NM_033440.3(CELA2A):c.70C>T (p.Pro24Ser)	CELA2A (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515678	NM_033440.3(CELA2A):c.104C>T (p.Ala35Val)	CELA2A (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156729	Single allele	CELA2A	Deletion	Normal pregnancy	Gnot provided
Select item 2207009	NM_033440.3(CELA2A):c.157A>C (p.Lys53Gln)	CELA2A (K53Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 633595	NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)	CELA2A (T70M)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 4	GPathogenic
Select item 2408708	NM_033440.3(CELA2A):c.235A>G (p.Arg79Gly)	CELA2A (R79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240495	NM_033440.3(CELA2A):c.247G>A (p.Val83Met)	CELA2A (V83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 633593	NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)	CELA2A (L85M)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 4 +4 more	GPathogenic
Select item 3265711	NM_033440.3(CELA2A):c.278C>T (p.Ala93Val)	CELA2A (A93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257603	NM_033440.3(CELA2A):c.304G>T (p.Val102Phe)	CELA2A (V102F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3141908	NM_033440.3(CELA2A):c.319G>A (p.Val107Met)	CELA2A (V107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 633592	NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn)	CELA2A (D121N)	Single nucleotide variant (missense variant)	Abdominal obesity-metabolic syndrome 4 +4 more	GPathogenic
Select item 2326372	NM_033440.3(CELA2A):c.496A>T (p.Asn166Tyr)	CELA2A (N166Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486220	NM_033440.3(CELA2A):c.500G>A (p.Gly167Glu)	CELA2A (G167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141910	NM_033440.3(CELA2A):c.530G>A (p.Arg177Gln)	CELA2A (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456239	NM_033440.3(CELA2A):c.568G>A (p.Ala190Thr)	CELA2A (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265708	NM_033440.3(CELA2A):c.622G>A (p.Val208Met)	CELA2A (V208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141911	NM_033440.3(CELA2A):c.632G>C (p.Ser211Thr)	CELA2A (S211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141912	NM_033440.3(CELA2A):c.638A>G (p.Asn213Ser)	CELA2A (N213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 633594	NM_033440.3(CELA2A):c.639+1G>C	CELA2A	Single nucleotide variant (splice donor variant)	Abdominal obesity-metabolic syndrome 4 +4 more	GPathogenic
Select item 3141913	NM_033440.3(CELA2A):c.683G>A (p.Arg228Gln)	CELA2A (R228Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2576051	NM_033440.3(CELA2A):c.697G>A (p.Gly233Ser)	CELA2A (G233S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3141914	NM_033440.3(CELA2A):c.751G>A (p.Val251Ile)	CELA2A (V251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156730	Single allele	CELA2A, CELA2B	Deletion	Normal pregnancy	Gnot provided
Select item 2463962	NM_033440.3(CELA2A):c.791C>T (p.Ser264Leu)	CELA2A (S264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265710	NM_033440.3(CELA2A):c.797T>C (p.Ile266Thr)	CELA2A (I266T)	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 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	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 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
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 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

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Items: 54