"GeneDx"[submitter] AND "LOC126806497"[gene] - ClinVar - NCBI

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Items: 10

	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 1287570	NM_212482.4(FN1):c.4252+204A>T	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231859	NM_212482.4(FN1):c.4252+134A>C	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222475	NM_212482.4(FN1):c.4252+128C>G	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230436	NM_212482.4(FN1):c.4252+11G>C	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770511	NM_212482.4(FN1):c.4219A>G (p.Ile1407Val)	FN1, LOC126806497 (I1316V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 767851	NM_212482.4(FN1):c.4146A>G (p.Pro1382=)	FN1, LOC126806497	Single nucleotide variant (synonymous variant)	Glomerulopathy with fibronectin deposits 2 +2 more	GBenign/Likely benign
Select item 1261686	NM_212482.4(FN1):c.4070-78A>G	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230778	NM_212482.4(FN1):c.4070-170A>G	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269907	NM_212482.4(FN1):c.4070-238T>C	FN1, LOC126806497	Single nucleotide variant (intron variant)	not provided	GBenign