LOC102724323[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 152819	GRCh38/hg38 10q11.21-11.22(chr10:45247429-45768908)x3	ALOX5, LOC102724323 +14 more	Copy number gain	See cases	GLikely benign
Select item 2257748	NM_000698.5(ALOX5):c.1940G>T (p.Ser647Ile)	ALOX5, LOC102724323 (S502I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393188	NM_000698.5(ALOX5):c.1942G>A (p.Val648Met)	ALOX5, LOC102724323 (V619M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258731	NM_000698.5(ALOX5):c.1999C>G (p.Arg667Gly)	ALOX5, LOC102724323 (R610G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516770	NM_000698.5(ALOX5):c.2000G>A (p.Arg667Gln)	ALOX5, LOC102724323 (R522Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance