LOC126807163[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +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	LOC126807210, LOC126807211 +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	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +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 147261	GRCh38/hg38 4q28.3(chr4:137806589-138242162)x1	LINC00616, LOC126807163 +4 more	Copy number loss	See cases	GBenign
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 2462757	NM_014331.4(SLC7A11):c.173T>C (p.Ile58Thr)	LOC126807163, SLC7A11 (I58T)	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 2225536	NM_014331.4(SLC7A11):c.94C>A (p.Pro32Thr)	LOC126807163, SLC7A11 (P32T)	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 2311348	NM_014331.4(SLC7A11):c.56A>G (p.Asn19Ser)	LOC126807163, SLC7A11 (N19S)	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