"GeneDx"[submitter] AND "LOC126806499"[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 1375582	NM_212482.4(FN1):c.352T>G (p.Ser118Ala)	FN1, LOC126806499 (S118A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711309	NM_212482.4(FN1):c.313A>C (p.Thr105Pro)	FN1, LOC126806499 (T105P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1227596	NM_212482.4(FN1):c.278-46G>A	FN1, LOC126806499	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328628	NM_212482.4(FN1):c.278-229T>C	FN1, LOC126806499	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272121	NM_212482.4(FN1):c.278-229T>G	FN1, LOC126806499	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283704	NM_212482.4(FN1):c.277+298A>G	FN1, LOC126806499	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291595	NM_212482.4(FN1):c.277+280dup	FN1, LOC126806499	Duplication (intron variant)	not provided	GBenign
Select item 1243565	NM_212482.4(FN1):c.277+138T>G	FN1, LOC126806499	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar