LOC126861056[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic
Select item 2250555	NM_001127211.3(SHTN1):c.1456G>T (p.Val486Leu)	ENO4, LOC126861056 +1 more (V486L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162024	NM_001127211.3(SHTN1):c.1451G>A (p.Arg484Lys)	ENO4, LOC126861056 +1 more (R424K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533797	NM_001127211.3(SHTN1):c.1408C>A (p.Pro470Thr)	ENO4, LOC126861056 +1 more (P410T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign