ABCE1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	See cases	GPathogenic
Select item 153878	GRCh38/hg38 4q31.21-31.23(chr4:144742003-148490914)x1	ABCE1, ANAPC10 +111 more	Copy number loss	See cases	GLikely pathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 2543506	NM_002940.3(ABCE1):c.9C>G (p.Asp3Glu)	ABCE1 (D3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251333	NM_002940.3(ABCE1):c.314T>C (p.Val105Ala)	ABCE1 (V105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787280	NM_002940.3(ABCE1):c.330A>T (p.Gly110=)	ABCE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2386016	NM_002940.3(ABCE1):c.595A>G (p.Ile199Val)	ABCE1 (I199V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 709737	NM_002940.3(ABCE1):c.613+7G>T	ABCE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2487252	NM_002940.3(ABCE1):c.688G>A (p.Val230Ile)	ABCE1 (V230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161505	NM_002940.3(ABCE1):c.708T>G (p.Asp236Glu)	ABCE1 (D236E)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 714248	NM_002940.3(ABCE1):c.726G>A (p.Glu242=)	ABCE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2517572	NM_002940.3(ABCE1):c.925A>G (p.Ile309Val)	ABCE1 (I309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244611	NM_002940.3(ABCE1):c.1033A>T (p.Met345Leu)	ABCE1 (M345L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769637	NM_002940.3(ABCE1):c.1425C>T (p.Cys475=)	ABCE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3129315	NM_002940.3(ABCE1):c.1522A>G (p.Ile508Val)	ABCE1 (I508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062794	GRCh37/hg19 4q31.21-31.22(chr4:145985709-147160169)x3	ABCE1, ANAPC10 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062793	GRCh37/hg19 4q31.21-31.22(chr4:145985742-147160169)x3	ABCE1, ANAPC10 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814613	GRCh37/hg19 4q31.21(chr4:145601590-146031966)x3	HHIP, ANAPC10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 42