"GeneDx"[submitter] AND "FN1-DT"[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 1312343	NM_212482.4(FN1):c.91A>T (p.Arg31Trp)	FN1, FN1-DT (R31W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714165	NM_212482.4(FN1):c.56C>T (p.Thr19Ile)	FN1, FN1-DT (T19I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 801895	NM_212482.4(FN1):c.44A>T (p.Gln15Leu)	FN1, FN1-DT (Q15L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type +3 more	GBenign
Select item 789977	NM_212482.4(FN1):c.40G>C (p.Val14Leu)	FN1, FN1-DT (V14L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1255339	NC_000002.12:g.215436072C>G	FN1, FN1-DT	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1229692	NC_000002.12:g.215436185CGCC[3]	FN1, FN1-DT +1 more	Microsatellite	not provided	GBenign

ClinVar