"GeneDx"[submitter] AND "LOC132090718"[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 790790	NM_005245.4(FAT1):c.4818T>C (p.Ile1606=)	FAT1, LOC132090718	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 778168	NM_005245.4(FAT1):c.4813A>G (p.Asn1605Asp)	FAT1, LOC132090718 (N1605D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1237659	NM_005245.4(FAT1):c.4811-11T>C	FAT1, LOC132090718	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242215	NM_005245.4(FAT1):c.4811-57C>G	FAT1, LOC132090718	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar