"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "FCN2"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 788558	NM_004108.3(FCN2):c.11A>T (p.Asp4Val)	FCN2 (D4V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787074	NM_004108.3(FCN2):c.33C>T (p.Gly11=)	FCN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788559	NM_004108.3(FCN2):c.307C>T (p.Arg103Cys)	FCN2 (R65C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788560	NM_004108.3(FCN2):c.429+6T>C	FCN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Developmental and epileptic encephalopathy, 14 +4 more	GUncertain significance
Select item 1372096	NC_000009.11:g.(?_137534034)_(139440238_?)dup	C9orf163, CAMSAP1 +29 more	Duplication	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance