"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1205962	NM_002016.2(FLG):c.11674C>T (p.Arg3892Trp)	CCDST, FLG (R3892W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206088	NM_002016.2(FLG):c.11486G>A (p.Arg3829His)	CCDST, FLG (R3829H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206244	NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr)	FLG, FLG-AS1 (S3662T)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +2 more	GBenign/Likely benign
Select item 1205917	NM_002016.2(FLG):c.10925T>C (p.Ile3642Thr)	FLG, FLG-AS1 (I3642T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1297565	NM_002016.2(FLG):c.10672T>C (p.Ser3558Pro)	FLG, FLG-AS1 (S3558P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1205900	NM_002016.2(FLG):c.10601A>G (p.Asn3534Ser)	FLG, FLG-AS1 (N3534S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328320	NM_002016.2(FLG):c.10348T>C (p.Tyr3450His)	FLG, FLG-AS1 (Y3450H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1297609	NM_002016.2(FLG):c.10262G>A (p.Ser3421Asn)	FLG, FLG-AS1 (S3421N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1206071	NM_002016.2(FLG):c.10136G>C (p.Arg3379Thr)	FLG, FLG-AS1 (R3379T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 279933	NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	FLG, FLG-AS1 (S3316*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 50930	NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	FLG, FLG-AS1 (S3247*)	Single nucleotide variant (nonsense)	FLG-related disorders +4 more	GPathogenic/Likely pathogenic
Select item 1206301	NM_002016.2(FLG):c.8660A>C (p.Gln2887Pro)	FLG, FLG-AS1 (Q2887P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1328200	NM_002016.2(FLG):c.8406C>T (p.His2802=)	FLG, FLG-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297490	NM_002016.2(FLG):c.8187G>A (p.Gly2729=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328225	NM_002016.2(FLG):c.8166G>A (p.Glu2722=)	FLG, FLG-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1328289	NM_002016.2(FLG):c.7942T>C (p.Ser2648Pro)	FLG, FLG-AS1 (S2648P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 50932	NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	CCDST, FLG (R2447*)	Single nucleotide variant (nonsense)	FLG-related disorders +3 more	GPathogenic/Likely pathogenic
Select item 1200863	NM_002016.2(FLG):c.6803A>G (p.His2268Arg)	FLG, FLG-AS1 (H2268R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1297656	NM_002016.2(FLG):c.6309C>A (p.Thr2103=)	FLG, FLG-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1183365	NM_002016.2(FLG):c.6220G>C (p.Glu2074Gln)	CCDST, FLG (E2074Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1188363	NM_002016.2(FLG):c.6073G>A (p.Gly2025Arg)	FLG, FLG-AS1 (G2025R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1217958	NM_002016.2(FLG):c.5840G>A (p.Trp1947Ter)	FLG, FLG-AS1 (W1947*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1328328	NM_002016.2(FLG):c.5839T>C (p.Trp1947Arg)	FLG, FLG-AS1 (W1947R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1270895	NM_002016.2(FLG):c.5839T>G (p.Trp1947Gly)	FLG, FLG-AS1 (W1947G)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris +1 more	GBenign
Select item 1205946	NM_002016.2(FLG):c.5828T>A (p.Leu1943His)	FLG, FLG-AS1 (L1943H)	Single nucleotide variant (missense variant)	Ichthyosis vulgaris	GBenign
Select item 1206128	NM_002016.2(FLG):c.4421G>A (p.Arg1474Gln)	FLG, FLG-AS1 (R1474Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328330	NM_002016.2(FLG):c.3896G>A (p.Arg1299Gln)	CCDST, FLG (R1299Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1205945	NM_002016.2(FLG):c.3609G>T (p.Arg1203Ser)	CCDST, FLG (R1203S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206279	NM_002016.2(FLG):c.3440A>G (p.Glu1147Gly)	CCDST, FLG (E1147G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1200762	NM_002016.2(FLG):c.2884T>C (p.Trp962Arg)	FLG, FLG-AS1 (W962R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206248	NM_002016.2(FLG):c.2804G>C (p.Gly935Ala)	CCDST, FLG (G935A)	Single nucleotide variant (missense variant)	FLG-related condition +1 more	GBenign/Likely benign
Select item 1205999	NM_002016.2(FLG):c.2794C>A (p.Gln932Lys)	CCDST, FLG (Q932K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1206107	NM_002016.2(FLG):c.2786G>T (p.Gly929Val)	CCDST, FLG (G929V)	Single nucleotide variant (missense variant)	FLG-related condition	GLikely benign
Select item 1206407	NM_002016.2(FLG):c.2713G>A (p.Gly905Ser)	CCDST, FLG (G905S)	Single nucleotide variant (missense variant)	FLG-related condition +1 more	GLikely benign
Select item 1206251	NM_002016.2(FLG):c.2589G>C (p.Arg863Ser)	CCDST, FLG (R863S)	Single nucleotide variant (missense variant)	FLG-related condition	GLikely benign
Select item 1297715	NM_002016.2(FLG):c.2580G>A (p.Ser860=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16320	NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	CCDST, FLG (S761fs)	Microsatellite (frameshift variant)	FLG-related disorders +5 more	GPathogenic/Likely pathogenic
Select item 1297580	NM_002016.2(FLG):c.2067T>C (p.Ser689=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1206280	NM_002016.2(FLG):c.1741A>T (p.Thr581Ser)	CCDST, FLG (T581S)	Single nucleotide variant (missense variant)	FLG-related condition +1 more	GBenign/Likely benign
Select item 16319	NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	CCDST, FLG (R501*)	Single nucleotide variant (nonsense)	FLG-related disorders +6 more	GPathogenic/Likely pathogenic
Select item 1193189	NM_002016.2(FLG):c.1494G>C (p.Glu498Asp)	CCDST, FLG (E498D)	Single nucleotide variant (missense variant)	FLG-related condition +1 more	GLikely benign

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Items: 41