"GeneDx"[submitter] AND "FRA10AC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 2662776	NM_145246.5(FRA10AC1):c.772A>C (p.Lys258Gln)	FRA10AC1 (K258Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663156	NM_145246.5(FRA10AC1):c.560A>G (p.Lys187Arg)	FRA10AC1 (K187R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722515	NM_145246.5(FRA10AC1):c.491AAG[1] (p.Glu165del)	FRA10AC1 (E165del)	Microsatellite (inframe_deletion +1 more)	not provided	GPathogenic
Select item 2504404	NM_145246.5(FRA10AC1):c.103C>T (p.Gln35Ter)	FRA10AC1 (Q35*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

ClinVar