"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806496"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1392753	NM_212482.4(FN1):c.6002G>A (p.Arg2001His)	FN1, LOC126806496 (R1820H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1055248	NM_212482.4(FN1):c.5983G>A (p.Asp1995Asn)	FN1, LOC126806496 (D1814N +3 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GConflicting classifications of pathogenicity
Select item 1594663	NM_212482.4(FN1):c.5977+7A>G	FN1, LOC126806496	Single nucleotide variant (intron variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GLikely benign
Select item 1166950	NM_212482.4(FN1):c.5964C>T (p.Ile1988=)	FN1, LOC126806496	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1582669	NM_212482.4(FN1):c.5943T>C (p.Ala1981=)	FN1, LOC126806496	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GLikely benign
Select item 1504652	NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser)	FN1, LOC126806496 (T1877S +3 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia - Sutcliffe type +2 more	GUncertain significance

ClinVar