12517[HGNC] - ClinVar

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Items: 62

	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 2375277	NM_021833.5(UCP1):c.847G>A (p.Val283Ile)	UCP1 (V283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480611	NM_021833.5(UCP1):c.713C>A (p.Thr238Asn)	UCP1 (T238N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361926	NM_021833.5(UCP1):c.695C>T (p.Pro232Leu)	UCP1 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773711	NM_021833.5(UCP1):c.680C>T (p.Thr227Ile)	UCP1 (T227I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2205909	NM_021833.5(UCP1):c.676G>A (p.Ala226Thr)	UCP1 (A226T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1267017	NM_021833.5(UCP1):c.629-208T>G	UCP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2387819	NM_021833.5(UCP1):c.586G>A (p.Asp196Asn)	UCP1 (D196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737633	NM_021833.5(UCP1):c.552T>C (p.Ser184=)	UCP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3330783	NM_021833.5(UCP1):c.532A>C (p.Thr178Pro)	UCP1 (T178P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185979	NM_021833.5(UCP1):c.505G>A (p.Gly169Ser)	UCP1 (G169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330592	NM_021833.5(UCP1):c.502G>A (p.Glu168Lys)	UCP1 (E168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593415	NM_021833.5(UCP1):c.464C>T (p.Thr155Met)	UCP1 (T155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260425	NM_021833.5(UCP1):c.449T>A (p.Ile150Asn)	UCP1 (I150N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185978	NM_021833.5(UCP1):c.398C>G (p.Pro133Arg)	UCP1 (P133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330782	NM_021833.5(UCP1):c.389T>C (p.Ile130Thr)	UCP1 (I130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297059	NM_021833.5(UCP1):c.368C>G (p.Thr123Ser)	UCP1 (T123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690413	NM_021833.5(UCP1):c.365C>T (p.Thr122Met)	UCP1 (T122M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227025	NM_021833.5(UCP1):c.326-94del	UCP1	Deletion (intron variant)	not provided	GBenign
Select item 719128	NM_021833.5(UCP1):c.267C>T (p.Ala89=)	UCP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2590476	NM_021833.5(UCP1):c.262T>G (p.Ser88Ala)	UCP1 (S88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214456	NM_021833.5(UCP1):c.200A>G (p.Lys67Arg)	UCP1 (K67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298928	NM_021833.5(UCP1):c.170G>C (p.Gly57Ala)	UCP1 (G57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403592	NM_021833.5(UCP1):c.131A>G (p.Gln44Arg)	UCP1 (Q44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185976	NM_021833.5(UCP1):c.127G>T (p.Val43Phe)	UCP1 (V43F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718013	NM_021833.5(UCP1):c.118C>T (p.Arg40Trp)	UCP1 (R40W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3185981	NM_021833.5(UCP1):c.83A>G (p.Asp28Gly)	UCP1 (D28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272384	NM_021833.5(UCP1):c.77T>C (p.Leu26Ser)	UCP1 (L26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185977	NM_021833.5(UCP1):c.25G>C (p.Val9Leu)	UCP1 (V9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17659	NC_000004.12:g.140572807T>C	UCP1	Single nucleotide variant	UCP1 POLYMORPHISM	GBenign
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 3062765	GRCh37/hg19 4q31.1(chr4:140930352-141499318)x3	CLGN, ELMOD2 +4 more	Copy number gain	not specified	GUncertain significance
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 1340411	GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1	CLGN, ELF2 +15 more	Copy number loss	not provided	GPathogenic
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 814609	GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1	MGAT4D, SETD7 +14 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 686467	GRCh37/hg19 4q31.1-31.21(chr4:141176846-142078534)x3	CLGN, ELMOD2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562970	GRCh37/hg19 4q31.1(chr4:140924159-141492943)x3	UCP1, MAML3 +4 more	Copy number gain	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

ClinVar

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Items: 62