LOC100506551[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 58231	GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3	FBXO21, FBXW8 +61 more	Copy number gain	See cases	GUncertain significance
Select item 2323691	NM_153348.3(FBXW8):c.854A>G (p.Asp285Gly)	FBXW8, LOC100506551 (D285G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467559	NM_153348.3(FBXW8):c.928G>C (p.Asp310His)	FBXW8, LOC100506551 (D244H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2210742	NM_153348.3(FBXW8):c.931G>A (p.Asp311Asn)	FBXW8, LOC100506551 (D245N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396828	NM_153348.3(FBXW8):c.967G>A (p.Val323Met)	FBXW8, LOC100506551 (V323M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217823	NM_153348.3(FBXW8):c.983A>G (p.Asn328Ser)	FBXW8, LOC100506551 (N262S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2609746	NM_153348.3(FBXW8):c.1002G>C (p.Gln334His)	FBXW8, LOC100506551 (Q268H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 790128	NM_153348.3(FBXW8):c.1030C>T (p.Leu344=)	FBXW8, LOC100506551	Single nucleotide variant (synonymous variant)	not provided	GBenign