"Revvity Omics, Revvity"[submitter] AND "FLNB"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441474	NM_001457.4(FLNB):c.83A>T (p.Glu28Val)	FLNB (E28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918405	NM_001457.4(FLNB):c.419C>T (p.Thr140Met)	FLNB (T140M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6405	NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)	FLNB (E227K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1716344	NM_001457.4(FLNB):c.785G>A (p.Arg262Lys)	FLNB (R262K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2598369	NM_001457.4(FLNB):c.1358A>G (p.Asn453Ser)	FLNB (N453S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2039606	NM_001457.4(FLNB):c.1588G>A (p.Gly530Arg)	FLNB (G530R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428418	NM_001457.4(FLNB):c.1711G>A (p.Val571Met)	FLNB (V571M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2441480	NM_001457.4(FLNB):c.1748G>A (p.Gly583Glu)	FLNB (G583E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 346329	NM_001457.4(FLNB):c.2935G>A (p.Val979Met)	FLNB (V979M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1115836	NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile)	FLNB (T1070I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2440293	NM_001457.4(FLNB):c.3420del (p.Pro1141fs)	FLNB (P1141fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2441477	NM_001457.4(FLNB):c.3603G>A (p.Met1201Ile)	FLNB (M1201I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441479	NM_001457.4(FLNB):c.3625G>A (p.Gly1209Ser)	FLNB (G1209S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077923	NM_001457.4(FLNB):c.3631G>A (p.Glu1211Lys)	FLNB (E1211K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 899516	NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr)	FLNB (A1218T)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 2441478	NM_001457.4(FLNB):c.3770C>T (p.Pro1257Leu)	FLNB (P1257L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1634622	NM_001457.4(FLNB):c.4062-13C>G	FLNB	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2689072	NM_001457.4(FLNB):c.5101A>G (p.Thr1701Ala)	FLNB (T1701A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379732	NM_001457.4(FLNB):c.5348C>T (p.Thr1783Met)	FLNB (T1772M +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2441476	NM_001457.4(FLNB):c.6367+3G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1417463	NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys)	FLNB, FLNB-AS1 (R2322C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441473	NM_001457.4(FLNB):c.7333A>T (p.Met2445Leu)	FLNB, FLNB-AS1 (M2421L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441475	NM_001457.4(FLNB):c.7577T>A (p.Phe2526Tyr)	FLNB, FLNB-AS1 (F2502Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 23