"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FLNB"[gene - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1176159	NM_001457.4(FLNB):c.195G>A (p.Lys65=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 258107	NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)	FLNB (Y121F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1301866	NM_001457.4(FLNB):c.364T>G (p.Ser122Ala)	FLNB (S122A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736702	NM_001457.4(FLNB):c.420G>A (p.Thr140=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2653913	NM_001457.4(FLNB):c.542-203G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2571181	NM_001457.4(FLNB):c.1128C>T (p.Tyr376=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653914	NM_001457.4(FLNB):c.1143G>A (p.Thr381=)	FLNB	Single nucleotide variant (synonymous variant)	FLNB-related condition +1 more	GLikely benign
Select item 449801	NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)	FLNB (K399R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 346308	NM_001457.4(FLNB):c.1278C>T (p.His426=)	FLNB	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 1176160	NM_001457.4(FLNB):c.1433A>G (p.Asp478Gly)	FLNB (D478G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389036	NM_001457.4(FLNB):c.1534G>A (p.Ala512Thr)	FLNB (A512T)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 193630	NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu)	FLNB (P520L)	Single nucleotide variant (missense variant)	not specified +3 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 900531	NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln)	FLNB (R566Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 709969	NM_001457.4(FLNB):c.1998C>T (p.Ala666=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 284044	NM_001457.4(FLNB):c.2493C>T (p.Pro831=)	FLNB, LOC129936935	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 1695076	NM_001457.4(FLNB):c.2560G>C (p.Gly854Arg)	FLNB, LOC129936935 (G854R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194935	NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)	FLNB (G925C)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 444606	NM_001457.4(FLNB):c.2919C>T (p.Gly973=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 346331	NM_001457.4(FLNB):c.3240G>A (p.Pro1080=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1903516	NM_001457.4(FLNB):c.3351C>T (p.His1117=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710588	NM_001457.4(FLNB):c.3522G>A (p.Ser1174=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3025432	NM_001457.4(FLNB):c.3693C>A (p.Ile1231=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546938	NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln)	FLNB (R1256Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 346338	NM_001457.4(FLNB):c.3771G>A (p.Pro1257=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 624028	NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala)	FLNB (G1262A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 380481	NM_001457.4(FLNB):c.4222+8A>G	FLNB	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 377888	NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu)	FLNB (F1411L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284344	NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)	FLNB (R1436Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258112	NM_001457.4(FLNB):c.4362G>A (p.Pro1454=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 258113	NM_001457.4(FLNB):c.4377T>C (p.Val1459=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 195867	NM_001457.4(FLNB):c.4390+8T>A	FLNB	Single nucleotide variant (intron variant)	FLNB-related condition +3 more	GBenign/Likely benign
Select item 2653915	NM_001457.4(FLNB):c.4391-877C>T	FLNB	Single nucleotide variant (synonymous variant +1 more)	FLNB-related condition +1 more	GLikely benign
Select item 809499	NM_001457.4(FLNB):c.4391-825T>C	FLNB (F1483L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1380709	NM_001457.4(FLNB):c.4670C>T (p.Thr1557Met)	FLNB (T1588M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 871255	NM_001457.4(FLNB):c.4724C>T (p.Thr1575Met)	FLNB (T1606M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1476326	NM_001457.4(FLNB):c.4760G>A (p.Arg1587His)	FLNB (R1587H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 283851	NM_001457.4(FLNB):c.4872C>T (p.Ile1624=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 498495	NM_001457.4(FLNB):c.4929C>T (p.Ala1643=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 444607	NM_001457.4(FLNB):c.5220C>T (p.Asn1740=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2653916	NM_001457.4(FLNB):c.5274A>G (p.Gly1758=)	FLNB	Single nucleotide variant (synonymous variant)	FLNB-related condition +1 more	GConflicting classifications of pathogenicity
Select item 196946	NM_001457.4(FLNB):c.5769C>T (p.Ala1923=)	FLNB	Single nucleotide variant (synonymous variant)	FLNB-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 2653917	NM_001457.4(FLNB):c.5788_5802del (p.Ile1930_Asp1934del)	FLNB	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 346351	NM_001457.4(FLNB):c.5816C>T (p.Thr1939Met)	FLNB (T1939M +3 more)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +1 more	GLikely benign
Select item 510996	NM_001457.4(FLNB):c.5887+8A>G	FLNB	Single nucleotide variant (intron variant)	FLNB-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 809500	NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys)	FLNB (R1986C +3 more)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 288905	NM_001457.4(FLNB):c.6231C>T (p.Asp2077=)	FLNB	Single nucleotide variant (synonymous variant)	FLNB-related condition +4 more	GBenign/Likely benign
Select item 385526	NM_001457.4(FLNB):c.6315C>T (p.Ala2105=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1298922	NM_001457.4(FLNB):c.6333C>T (p.Val2111=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618136	NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)	FLNB (R2172H +3 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 288202	NM_001457.4(FLNB):c.6642C>T (p.Phe2214=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 288209	NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 516325	NM_001457.4(FLNB):c.6741G>A (p.Ser2247=)	FLNB	Single nucleotide variant (synonymous variant)	FLNB-Related Spectrum Disorders +1 more	GBenign/Likely benign
Select item 258120	NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)	FLNB (I2319T +3 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 2154052	NM_001457.4(FLNB):c.7125T>C (p.Val2375=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FLNB-related condition +1 more	GLikely benign
Select item 197500	NM_001457.4(FLNB):c.7254C>T (p.Ser2418=)	FLNB, FLNB-AS1	Single nucleotide variant (synonymous variant)	FLNB-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 385862	NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile)	FLNB, FLNB-AS1 (V2419I +3 more)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 516077	NM_001457.4(FLNB):c.7360G>A (p.Val2454Ile)	FLNB-AS1, FLNB (V2454I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2653918	NM_001457.4(FLNB):c.7661C>A (p.Thr2554Asn)	FLNB, FLNB-AS1 (T2530N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 734262	NM_001457.4(FLNB):c.7668C>T (p.Cys2556=)	FLNB, FLNB-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2653919	NC_000003.12:g.58179951G>A	FLNB	Single nucleotide variant	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61