"GeneDx"[submitter] AND "LOC132089107"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 60203	GRCh38/hg38 4q35.2(chr4:186550538-187284289)x1	FAT1, LINC02374 +14 more	Copy number loss	See cases	GUncertain significance
Select item 152451	GRCh38/hg38 4q35.2(chr4:186554379-189324047)x1	FAT1, LINC01060 +46 more	Copy number loss	See cases	GUncertain significance
Select item 152922	GRCh38/hg38 4q35.2(chr4:186625270-190018185)x1	FAT1, FRG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 1229777	NM_005245.4(FAT1):c.4183+59A>G	LOC132089107, FAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227677	NM_005245.4(FAT1):c.4183+31T>A	FAT1, LOC132089107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310075	NM_005245.4(FAT1):c.4177A>G (p.Ile1393Val)	FAT1, LOC132089107 (I1393V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar