"GeneDx"[submitter] AND "LOC126807632"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 1264896	NM_182925.5(FLT4):c.2543-70C>T	FLT4, LOC126807632	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222591	NM_182925.5(FLT4):c.2543-116C>T	FLT4, LOC126807632	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275998	NM_182925.5(FLT4):c.2543-165C>A	FLT4, LOC126807632	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698170	NM_182925.5(FLT4):c.2515G>A (p.Glu839Lys)	FLT4, LOC126807632 (E839K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179458	NM_182925.5(FLT4):c.2407-104A>G	FLT4, LOC126807632	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283473	NM_182925.5(FLT4):c.2300-42AC[11]	FLT4, LOC126807632	Microsatellite (intron variant)	not provided	GBenign
Select item 1224240	NM_182925.5(FLT4):c.2300-42AC[10]	FLT4, LOC126807632	Microsatellite (intron variant)	not provided	GBenign
Select item 1276849	NM_182925.5(FLT4):c.2300-78C>G	FLT4, LOC126807632	Single nucleotide variant (intron variant)	not provided	GBenign