15462[HGNC] - ClinVar

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Items: 44

	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 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	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 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	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 3335488	NM_014487.6(ZNF330):c.142C>T (p.Arg48Trp)	ZNF330 (R48W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195185	NM_014487.6(ZNF330):c.293G>C (p.Gly98Ala)	ZNF330 (G98A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277534	NM_014487.6(ZNF330):c.346A>G (p.Ser116Gly)	ZNF330 (S56G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195186	NM_014487.6(ZNF330):c.382G>C (p.Glu128Gln)	ZNF330 (E128Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548827	NM_014487.6(ZNF330):c.481C>T (p.His161Tyr)	ZNF330 (H161Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485977	NM_014487.6(ZNF330):c.563G>A (p.Arg188His)	ZNF330 (R128H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195187	NM_014487.6(ZNF330):c.667A>G (p.Thr223Ala)	ZNF330 (T163A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195188	NM_014487.6(ZNF330):c.740C>G (p.Ala247Gly)	ZNF330 (A187G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514004	NM_014487.6(ZNF330):c.755C>T (p.Ala252Val)	ZNF330 (A252V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366343	NM_014487.6(ZNF330):c.768C>A (p.Asn256Lys)	ZNF330 (N196K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555646	NM_014487.6(ZNF330):c.794C>T (p.Thr265Ile)	ZNF330 (T205I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244562	NM_014487.6(ZNF330):c.901A>T (p.Asn301Tyr)	ZNF330 (N241Y +1 more)	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 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 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340295	GRCh37/hg19 4q31.21(chr4:142023332-142351190)x3	RNF150, ZNF330	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 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 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 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 562971	GRCh37/hg19 4q31.21(chr4:141663149-143163452)x1	INPP4B, TBC1D9 +3 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: 44