14254[HGNC] - ClinVar

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Items: 52

	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 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 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 2213158	NM_012118.4(NOCT):c.32C>T (p.Ala11Val)	LOC129993098, NOCT (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200998	NM_012118.4(NOCT):c.80G>A (p.Gly27Glu)	LOC129993098, NOCT (G27E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200995	NM_012118.4(NOCT):c.175T>G (p.Ser59Ala)	LOC129993098, NOCT (S59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203778	NM_012118.4(NOCT):c.185G>C (p.Arg62Pro)	LOC129993098, NOCT (R62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340092	NM_012118.4(NOCT):c.314T>C (p.Ile105Thr)	NOCT (I105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331534	NM_012118.4(NOCT):c.347C>T (p.Ala116Val)	NOCT (A116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325542	NM_012118.4(NOCT):c.403G>C (p.Asp135His)	NOCT (D135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770156	NM_012118.4(NOCT):c.405T>C (p.Asp135=)	NOCT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2555746	NM_012118.4(NOCT):c.496C>T (p.Pro166Ser)	NOCT (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200997	NM_012118.4(NOCT):c.547A>G (p.Ile183Val)	NOCT (I183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300235	NM_012118.4(NOCT):c.678T>G (p.Asp226Glu)	NOCT (D226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607547	NM_012118.4(NOCT):c.721C>T (p.Leu241Phe)	NOCT (L241F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738931	NM_012118.4(NOCT):c.729C>T (p.Asn243=)	NOCT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545569	NM_012118.4(NOCT):c.769G>A (p.Ala257Thr)	NOCT (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200999	NM_012118.4(NOCT):c.842G>T (p.Cys281Phe)	NOCT (C281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254986	NM_012118.4(NOCT):c.847G>A (p.Ala283Thr)	NOCT (A283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200993	NM_012118.4(NOCT):c.1103C>T (p.Thr368Ile)	NOCT (T368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200994	NM_012118.4(NOCT):c.1119G>T (p.Arg373Ser)	NOCT (R373S)	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 2685992	GRCh37/hg19 4q28.3-31.1(chr4:139462517-139955614)x3	NOCT	Copy number gain	not provided	GUncertain significance
Select item 2685991	GRCh37/hg19 4q28.3-31.1(chr4:139066630-140127741)x3	ELF2, NOCT +1 more	Copy number gain	not provided	GUncertain significance
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 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

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Items: 52