ClinVar for Gene (Select 23657) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320190	NM_014331.4(SLC7A11):c.548G>A (p.Ser183Asn)	SLC7A11 (S183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320188	NM_014331.4(SLC7A11):c.553A>C (p.Ser185Arg)	SLC7A11 (S185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320187	NM_014331.4(SLC7A11):c.799C>T (p.Pro267Ser)	SLC7A11 (P267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320186	NM_014331.4(SLC7A11):c.418G>A (p.Ala140Thr)	SLC7A11 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320185	NM_014331.4(SLC7A11):c.57T>A (p.Asn19Lys)	LOC126807163, SLC7A11 (N19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320184	NM_014331.4(SLC7A11):c.421G>A (p.Val141Met)	SLC7A11 (V141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320183	NM_014331.4(SLC7A11):c.251C>T (p.Thr84Met)	LOC126807163, SLC7A11 (T84M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320182	NM_014331.4(SLC7A11):c.448A>C (p.Ile150Leu)	SLC7A11 (I150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165531	NM_014331.4(SLC7A11):c.73C>A (p.Pro25Thr)	LOC126807163, SLC7A11 (P25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165530	NM_014331.4(SLC7A11):c.563C>T (p.Ala188Val)	SLC7A11 (A188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165529	NM_014331.4(SLC7A11):c.4G>T (p.Val2Phe)	LOC126807163, SLC7A11 (V2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165528	NM_014331.4(SLC7A11):c.499C>T (p.Leu167Phe)	SLC7A11 (L167F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165527	NM_014331.4(SLC7A11):c.442C>T (p.Arg148Cys)	SLC7A11 (R148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165526	NM_014331.4(SLC7A11):c.307A>G (p.Thr103Ala)	SLC7A11 (T103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165525	NM_014331.4(SLC7A11):c.217A>G (p.Thr73Ala)	LOC126807163, SLC7A11 (T73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165524	NM_014331.4(SLC7A11):c.1408T>C (p.Trp470Arg)	SLC7A11 (W470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165523	NM_014331.4(SLC7A11):c.1133T>C (p.Ile378Thr)	SLC7A11 (I378T)	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 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 2685129	GRCh37/hg19 4q28.3(chr4:138719855-139385469)x1	SLC7A11	Copy number loss	not provided	GUncertain significance
Select item 2623167	NM_014331.4(SLC7A11):c.502A>G (p.Ile168Val)	SLC7A11 (I168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616263	NM_014331.4(SLC7A11):c.403C>G (p.Arg135Gly)	SLC7A11 (R135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611038	NM_014331.4(SLC7A11):c.835A>G (p.Ile279Val)	SLC7A11 (I279V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589606	NM_014331.4(SLC7A11):c.1388C>T (p.Ala463Val)	SLC7A11 (A463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543599	NM_014331.4(SLC7A11):c.460T>C (p.Phe154Leu)	SLC7A11 (F154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540032	NM_014331.4(SLC7A11):c.385G>A (p.Val129Met)	SLC7A11 (V129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529713	NM_014331.4(SLC7A11):c.1192C>T (p.Leu398Phe)	SLC7A11 (L398F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527969	NM_014331.4(SLC7A11):c.1363G>A (p.Val455Ile)	SLC7A11 (V455I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520919	NM_014331.4(SLC7A11):c.869C>T (p.Thr290Met)	SLC7A11 (T290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514069	NM_014331.4(SLC7A11):c.1319C>T (p.Ala440Val)	SLC7A11 (A440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462757	NM_014331.4(SLC7A11):c.173T>C (p.Ile58Thr)	LOC126807163, SLC7A11 (I58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411477	NM_014331.4(SLC7A11):c.373G>C (p.Val125Leu)	SLC7A11 (V125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400643	NM_014331.4(SLC7A11):c.487C>T (p.Leu163Phe)	SLC7A11 (L163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385880	NM_014331.4(SLC7A11):c.443G>A (p.Arg148His)	SLC7A11 (R148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350615	NM_014331.4(SLC7A11):c.355G>T (p.Gly119Cys)	SLC7A11 (G119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348878	NM_014331.4(SLC7A11):c.1366A>C (p.Ile456Leu)	SLC7A11 (I456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344149	NM_014331.4(SLC7A11):c.1232G>A (p.Arg411Gln)	SLC7A11 (R411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319743	NM_014331.4(SLC7A11):c.1105G>A (p.Val369Ile)	SLC7A11 (V369I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312638	NM_014331.4(SLC7A11):c.110A>C (p.Lys37Thr)	LOC126807163, SLC7A11 (K37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311348	NM_014331.4(SLC7A11):c.56A>G (p.Asn19Ser)	LOC126807163, SLC7A11 (N19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308138	NM_014331.4(SLC7A11):c.397A>G (p.Ile133Val)	SLC7A11 (I133V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247235	NM_014331.4(SLC7A11):c.956T>C (p.Val319Ala)	SLC7A11 (V319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233836	NM_014331.4(SLC7A11):c.1063C>T (p.Leu355Phe)	SLC7A11 (L355F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225536	NM_014331.4(SLC7A11):c.94C>A (p.Pro32Thr)	LOC126807163, SLC7A11 (P32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220405	NM_014331.4(SLC7A11):c.665A>G (p.Lys222Arg)	SLC7A11 (K222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 980140	GRCh37/hg19 4q28.3(chr4:139071460-139285096)x1	SLC7A11	Copy number loss	not provided	GUncertain significance
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 147261	GRCh38/hg38 4q28.3(chr4:137806589-138242162)x1	LINC00616, LOC126807163 +4 more	Copy number loss	See cases	GBenign
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 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: 75