ClinVar for Gene (Select 2023) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275439	NM_001428.5(ENO1):c.634G>A (p.Gly212Arg)	ENO1 (G119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275438	NM_001428.5(ENO1):c.1138T>C (p.Phe380Leu)	ENO1 (F380L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	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 3088898	NM_001428.5(ENO1):c.999C>A (p.Asn333Lys)	ENO1 (N240K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088897	NM_001428.5(ENO1):c.860A>C (p.Tyr287Ser)	ENO1 (Y194S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088896	NM_001428.5(ENO1):c.131A>G (p.Tyr44Cys)	ENO1 (Y44C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3088895	NM_001428.5(ENO1):c.1252G>A (p.Gly418Ser)	ENO1 (G325S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
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 2611138	NM_001428.5(ENO1):c.101C>G (p.Ala34Gly)	ENO1 (A34G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2535108	NM_001428.5(ENO1):c.649A>G (p.Ile217Val)	ENO1 (I124V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510847	NM_001428.5(ENO1):c.1270G>C (p.Ala424Pro)	ENO1 (A331P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510758	NM_001428.5(ENO1):c.175G>A (p.Gly59Arg)	ENO1 (G59R)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2384027	NM_001428.5(ENO1):c.316T>G (p.Phe106Val)	ENO1 (F13V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307714	NM_001428.5(ENO1):c.98C>G (p.Ala33Gly)	ENO1 (A33G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2294619	NM_001428.5(ENO1):c.896A>G (p.Asp299Gly)	ENO1 (D299G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285942	NM_001428.5(ENO1):c.874A>G (p.Ile292Val)	ENO1 (I292V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275163	NM_001428.5(ENO1):c.806G>T (p.Arg269Met)	ENO1 (R176M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237618	NM_001428.5(ENO1):c.1280A>G (p.Asn427Ser)	ENO1 (N334S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222591	NM_001428.5(ENO1):c.547C>T (p.Arg183Cys)	ENO1 (R183C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807831	GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1	CA6, CLSTN1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	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 980397	GRCh37/hg19 1p36.23(chr1:8869809-9115610)x3	ENO1, CA6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814052	GRCh37/hg19 1p36.23(chr1:8850514-9092079)x3	ENO1, SLC2A7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 775127	NM_001428.5(ENO1):c.735C>T (p.Asp245=)	ENO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 751845	NM_001428.5(ENO1):c.668-10C>T	ENO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 731576	NM_001428.5(ENO1):c.162G>A (p.Lys54=)	ENO1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 722451	NM_001428.5(ENO1):c.1305A>G (p.Ter435=)	ENO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687559	GRCh37/hg19 1p36.23(chr1:8850514-9094343)x3	CA6, ENO1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686112	GRCh37/hg19 1p36.23-36.22(chr1:8698108-9266627)x3	CA6, ENO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 565071	GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1	RERE, SLC45A1 +19 more	Copy number loss	not provided	GPathogenic
Select item 565070	GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1	SLC2A5, PER3 +16 more	Copy number loss	not provided	GPathogenic
Select item 442515	GRCh37/hg19 1p36.23-36.22(chr1:8855705-9389530)x1	CA6, ENO1 +8 more	Copy number loss	See cases	GLikely benign
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 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
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 155133	GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3	CA6, ENO1 +69 more	Copy number gain	See cases	GUncertain significance
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 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 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 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 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 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66