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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146029	GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	ACSL3, ACSL3-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 487456	NM_005687.5(FARSB):c.1486delinsAA (p.His496fs)	FARSB (H496fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 1311963	NM_005687.5(FARSB):c.1118G>C (p.Gly373Ala)	FARSB (G373A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 545502	NM_005687.5(FARSB):c.914G>A (p.Arg305Gln)	FARSB (R305Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 545501	NM_005687.5(FARSB):c.848+1G>A	FARSB	Single nucleotide variant (splice donor variant)	Rajab interstitial lung disease with brain calcifications 1 +1 more	GPathogenic/Likely pathogenic
Select item 1303821	NM_005687.5(FARSB):c.448A>C (p.Ile150Leu)	FARSB (I150L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303822	NM_005687.5(FARSB):c.122A>G (p.Glu41Gly)	FARSB (E41G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar