"GeneDx"[submitter] AND "FLG2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1287657	NM_001014342.3(FLG2):c.7130C>A (p.Ser2377Ter)	CCDST, FLG2 (S2377*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 1261755	NM_001014342.3(FLG2):c.6163G>A (p.Gly2055Arg)	CCDST, FLG2 (G2055R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1237699	NM_001014342.3(FLG2):c.5865C>T (p.His1955=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1235951	NM_001014342.3(FLG2):c.4806C>T (p.Ala1602=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2504511	NM_001014342.3(FLG2):c.4783C>T (p.Arg1595Ter)	FLG-AS1, FLG2 (R1595*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1279959	NM_001014342.3(FLG2):c.4530C>T (p.His1510=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1247512	NM_001014342.3(FLG2):c.3746A>G (p.His1249Arg)	CCDST, FLG2 (H1249R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1178008	NM_001014342.3(FLG2):c.3419G>A (p.Gly1140Asp)	CCDST, FLG2 (G1140D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1263972	NM_001014342.3(FLG2):c.2793G>A (p.Gln931=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1271582	NM_001014342.3(FLG2):c.2760T>C (p.Ser920=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1182426	NM_001014342.3(FLG2):c.1851T>C (p.Ser617=)	CCDST, FLG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1250269	NM_001014342.3(FLG2):c.893G>C (p.Cys298Ser)	CCDST, FLG2 (C298S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1241337	NM_001014342.3(FLG2):c.827G>A (p.Arg276Gln)	CCDST, FLG2 (R276Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1250704	NM_001014342.3(FLG2):c.504A>T (p.Leu168Phe)	CCDST, FLG2 (L168F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1238726	NM_001014342.3(FLG2):c.138+227C>T	FLG-AS1, FLG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253186	NM_001014342.3(FLG2):c.121C>T (p.Leu41Phe)	CCDST, FLG2 (L41F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1228729	NM_001014342.3(FLG2):c.-22-151A>C	FLG-AS1, FLG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246277	NM_001014342.3(FLG2):c.-22-212A>G	FLG-AS1, FLG2	Single nucleotide variant (intron variant)	not provided	GBenign