"PreventionGenetics, part of Exact Sciences"[submitter] AND "FLG"[gene - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1211343	NM_002016.2(FLG):c.12090G>A (p.Thr4030=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder +1 more	GBenign/Likely benign
Select item 2639220	NM_002016.2(FLG):c.12057G>A (p.Ala4019=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder +1 more	GLikely benign
Select item 1206179	NM_002016.2(FLG):c.2857G>C (p.Glu953Gln)	CCDST, FLG (E953Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1206248	NM_002016.2(FLG):c.2804G>C (p.Gly935Ala)	CCDST, FLG (G935A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1206107	NM_002016.2(FLG):c.2786G>T (p.Gly929Val)	CCDST, FLG (G929V)	Single nucleotide variant (missense variant)	FLG-related disorder	GLikely benign
Select item 2345585	NM_002016.2(FLG):c.2765T>G (p.Ile922Ser)	CCDST, FLG (I922S)	Single nucleotide variant (missense variant)	FLG-related disorder +1 more	GLikely benign
Select item 3053838	NM_002016.2(FLG):c.2733A>C (p.Ser911=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder	GLikely benign
Select item 1206407	NM_002016.2(FLG):c.2713G>A (p.Gly905Ser)	CCDST, FLG (G905S)	Single nucleotide variant (missense variant)	FLG-related disorder +1 more	GLikely benign
Select item 3041680	NM_002016.2(FLG):c.2613C>A (p.His871Gln)	CCDST, FLG (H871Q)	Single nucleotide variant (missense variant)	FLG-related disorder	GUncertain significance
Select item 1206251	NM_002016.2(FLG):c.2589G>C (p.Arg863Ser)	CCDST, FLG (R863S)	Single nucleotide variant (missense variant)	FLG-related disorder	GLikely benign
Select item 265156	NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	CCDST, FLG (R826*)	Single nucleotide variant (nonsense)	FLG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 280679	NM_002016.2(FLG):c.2427G>A (p.Trp809Ter)	CCDST, FLG (W809*)	Single nucleotide variant (nonsense)	FLG-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3031084	NM_002016.2(FLG):c.2421T>C (p.His807=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder	GLikely benign
Select item 450522	NM_002016.2(FLG):c.2362C>T (p.Arg788Ter)	CCDST, FLG (R788*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3046042	NM_002016.2(FLG):c.2346G>A (p.Arg782=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder	GLikely benign
Select item 16320	NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	CCDST, FLG (S761fs)	Microsatellite (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1274506	NM_002016.2(FLG):c.2280G>C (p.Gln760His)	CCDST, FLG (Q760H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3055388	NM_002016.2(FLG):c.2225C>A (p.Ser742Tyr)	CCDST, FLG (S742Y)	Single nucleotide variant (missense variant)	FLG-related disorder	GBenign
Select item 3056975	NM_002016.2(FLG):c.2181C>A (p.His727Gln)	CCDST, FLG (H727Q)	Single nucleotide variant (missense variant)	FLG-related disorder	GBenign
Select item 3056412	NM_002016.2(FLG):c.2174C>T (p.Thr725Ile)	CCDST, FLG (T725I)	Single nucleotide variant (missense variant)	FLG-related disorder	GBenign
Select item 1248082	NM_002016.2(FLG):c.2073A>G (p.Gly691=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1228120	NM_002016.2(FLG):c.2072G>A (p.Gly691Glu)	CCDST, FLG (G691E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3043835	NM_002016.2(FLG):c.1791C>T (p.Ser597=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder	GLikely benign
Select item 1206280	NM_002016.2(FLG):c.1741A>T (p.Thr581Ser)	CCDST, FLG (T581S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1263560	NM_002016.2(FLG):c.1555C>A (p.His519Asn)	CCDST, FLG (H519N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 16319	NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	CCDST, FLG (R501*)	Single nucleotide variant (nonsense)	Atopic eczema +5 more	GPathogenic/Likely pathogenic
Select item 1193189	NM_002016.2(FLG):c.1494G>C (p.Glu498Asp)	CCDST, FLG (E498D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1226244	NM_002016.2(FLG):c.1485G>A (p.Ser495=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 426826	NM_002016.2(FLG):c.1297_1298del (p.Asp433fs)	CCDST, FLG (D433fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1286529	NM_002016.2(FLG):c.1255G>A (p.Gly419Ser)	CCDST, FLG (G419S)	Single nucleotide variant (missense variant +1 more)	FLG-related disorder +1 more	GBenign
Select item 1259919	NM_002016.2(FLG):c.1236T>C (p.Arg412=)	CCDST, FLG	Single nucleotide variant (synonymous variant +1 more)	FLG-related disorder +1 more	GBenign
Select item 3047951	NM_002016.2(FLG):c.1080C>T (p.His360=)	CCDST, FLG	Single nucleotide variant (synonymous variant +1 more)	FLG-related disorder	GLikely benign
Select item 3040440	NM_002016.2(FLG):c.975G>A (p.Ala325=)	CCDST, FLG	Single nucleotide variant (synonymous variant +1 more)	FLG-related disorder	GBenign
Select item 3049067	NM_002016.2(FLG):c.585C>T (p.Asp195=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder	GLikely benign
Select item 3046124	NM_002016.2(FLG):c.561G>A (p.Lys187=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder	GLikely benign
Select item 3054254	NM_002016.2(FLG):c.387A>G (p.Glu129=)	CCDST, FLG	Single nucleotide variant (synonymous variant)	FLG-related disorder	GLikely benign
Select item 1227167	NM_002016.2(FLG):c.284C>T (p.Pro95Leu)	CCDST, FLG (P95L)	Single nucleotide variant (missense variant)	FLG-related disorder +1 more	GBenign
Select item 1235459	NM_002016.2(FLG):c.149A>G (p.Asp50Gly)	CCDST, FLG (D50G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 280469	NM_002016.2(FLG):c.94G>T (p.Glu32Ter)	CCDST, FLG (E32*)	Single nucleotide variant (nonsense)	FLG-related disorder +2 more	GPathogenic/Likely pathogenic

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Items: 39