"GeneDx"[submitter] AND "LOC122861289"[gene] - ClinVar

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	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 1188024	NM_212482.4(FN1):c.1675+35A>G	FN1, LOC122861289	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285279	NM_212482.4(FN1):c.1675+21A>G	FN1, LOC122861289	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GBenign

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