ClinVar for Gene (Select 4717) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338450	GRCh37/hg19 4q31.1(chr4:140187697-140394334)x1	MGARP, NAA15 +2 more	Copy number loss	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 3188042	NM_001184989.2(NDUFC1):c.176T>C (p.Ile59Thr)	NDUFC1 (I59T)	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 3062752	GRCh37/hg19 4q31.1(chr4:140121963-140223855)x1	MGARP, NAA15 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3026688	NM_057175.5(NAA15):c.20C>T (p.Pro7Leu)	NAA15, NDUFC1 (P7L)	Single nucleotide variant (missense variant +1 more)	not provided	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 2577991	NM_057175.5(NAA15):c.54+1_54+2del	NAA15, NDUFC1	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2538257	NM_001184989.2(NDUFC1):c.46C>A (p.Pro16Thr)	NDUFC1 (P16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536644	NM_001184989.2(NDUFC1):c.23G>T (p.Arg8Leu)	NDUFC1 (R8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490247	NM_001184989.2(NDUFC1):c.14C>G (p.Ala5Gly)	NDUFC1 (A5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365337	NM_001184989.2(NDUFC1):c.5C>T (p.Ala2Val)	NDUFC1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317318	NM_001184989.2(NDUFC1):c.167T>A (p.Ile56Asn)	NDUFC1 (I56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223396	NM_001184989.2(NDUFC1):c.179A>G (p.Lys60Arg)	NDUFC1 (K60R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217793	NM_001184989.2(NDUFC1):c.130G>A (p.Val44Ile)	NDUFC1 (V44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2020770	NM_057175.5(NAA15):c.28G>T (p.Glu10Ter)	NAA15, NDUFC1 (E10*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1903314	NM_057175.5(NAA15):c.54+16C>T	NAA15, NDUFC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1443929	NC_000004.11:g.(?_140222932)_(140394280_?)del	NAA15, NDUFC1 +1 more	Deletion	not provided	GUncertain significance
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 1326516	NM_057175.5(NAA15):c.25A>G (p.Lys9Glu)	NAA15, NDUFC1 (K9E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1300558	NM_057175.5(NAA15):c.46C>G (p.Arg16Gly)	NAA15, NDUFC1 (R16G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1265947	NC_000004.12:g.139301217G>A	NAA15, NDUFC1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1263855	NC_000004.12:g.139301326T>C	NAA15, NDUFC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182664	NC_000004.12:g.139301383A>G	NAA15, NDUFC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 814611	GRCh37/hg19 4q31.1(chr4:140024115-140457430)x3	NDUFC1, NAA15 +4 more	Copy number gain	not provided	GLikely benign
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 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
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
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 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 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 145883	GRCh38/hg38 4q31.1(chr4:139222611-139390389)x3	LOC126807166, LOC129993105 +5 more	Copy number gain	See cases	GLikely benign
Select item 145483	GRCh38/hg38 4q28.3-31.1(chr4:137507831-139300924)x1	ELF2, LINC00498 +37 more	Copy number loss	See cases	GUncertain significance
Select item 60200	GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1	ELF2, LINC00498 +48 more	Copy number loss	See cases	GUncertain significance
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	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 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 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

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Links from Gene

Items: 54