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

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

Search results

Items: 1 to 100 of 427

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57729	GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3	ABHD6, DNASE1L3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1190687	NC_000003.12:g.58008096T>C	FLNB	Single nucleotide variant	not provided	GLikely benign
Select item 1233044	NC_000003.12:g.58008150G>A	FLNB	Single nucleotide variant	not provided	GBenign
Select item 1241843	NC_000003.12:g.58008194C>T	FLNB	Single nucleotide variant	not provided	GBenign
Select item 1208892	NC_000003.12:g.58008288G>A	FLNB	Single nucleotide variant	not provided	GLikely benign
Select item 346296	NM_001457.4(FLNB):c.-31C>T	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders +2 more	GBenign
Select item 1691771	NM_001457.4(FLNB):c.-5C>T	FLNB	Single nucleotide variant	not provided	GUncertain significance
Select item 516180	NM_001457.4(FLNB):c.9A>G (p.Val3=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 439738	NM_001457.4(FLNB):c.107G>A (p.Arg36His)	FLNB (R36H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3366015	NM_001457.4(FLNB):c.175C>T (p.Gln59Ter)	FLNB (Q59*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 346299	NM_001457.4(FLNB):c.249G>A (p.Ala83=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 506644	NM_001457.4(FLNB):c.274A>G (p.Ile92Val)	FLNB (I92V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 386345	NM_001457.4(FLNB):c.282C>T (p.Leu94=)	FLNB	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 258103	NM_001457.4(FLNB):c.292+8C>A	FLNB	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 379652	NM_001457.4(FLNB):c.292+12G>C	FLNB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 258102	NM_001457.4(FLNB):c.292+14C>G	FLNB	Single nucleotide variant (intron variant)	FLNB-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 683067	NM_001457.4(FLNB):c.292+136T>A	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194765	NM_001457.4(FLNB):c.292+283G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671904	NM_001457.4(FLNB):c.293-263G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290644	NM_001457.4(FLNB):c.293-162C>A	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290134	NM_001457.4(FLNB):c.293-59A>T	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258107	NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)	FLNB (Y121F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1307396	NM_001457.4(FLNB):c.458T>A (p.Ile153Asn)	FLNB (I153N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502610	NM_001457.4(FLNB):c.478A>G (p.Asn160Asp)	FLNB (N160D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303374	NM_001457.4(FLNB):c.484A>T (p.Asn162Tyr)	FLNB (N162Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6400	NM_001457.4(FLNB):c.518C>T (p.Ala173Val)	FLNB (A173V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 516008	NM_001457.4(FLNB):c.541+15C>T	FLNB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1204608	NM_001457.4(FLNB):c.541+102G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670721	NM_001457.4(FLNB):c.541+282G>C	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671372	NM_001457.4(FLNB):c.541+288G>C	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671375	NM_001457.4(FLNB):c.541+310C>T	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723673	NM_001457.4(FLNB):c.571C>A (p.Pro191Thr)	FLNB (P191T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372794	NM_001457.4(FLNB):c.572C>T (p.Pro191Leu)	FLNB (P191L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1215198	NM_001457.4(FLNB):c.639+154A>T	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2499921	NM_001457.4(FLNB):c.647C>T (p.Thr216Ile)	FLNB (T216I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258118	NM_001457.4(FLNB):c.669G>A (p.Pro223=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 6405	NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)	FLNB (E227K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 284071	NM_001457.4(FLNB):c.720C>T (p.Ala240=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 508835	NM_001457.4(FLNB):c.762G>A (p.Pro254=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 515009	NM_001457.4(FLNB):c.787+14C>T	FLNB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1182525	NM_001457.4(FLNB):c.787+26A>G	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671377	NM_001457.4(FLNB):c.787+236del	FLNB	Deletion (intron variant)	not provided	GLikely benign
Select item 1196691	NM_001457.4(FLNB):c.787+242_787+247del	FLNB	Deletion (intron variant)	not provided	GLikely benign
Select item 683069	NM_001457.4(FLNB):c.787+292C>T	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271395	NM_001457.4(FLNB):c.788-163C>T	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269657	NM_001457.4(FLNB):c.788-58G>T	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 346302	NM_001457.4(FLNB):c.792C>T (p.Ile264=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 252548	NM_001457.4(FLNB):c.808A>G (p.Met270Val)	FLNB (M270V)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 1203559	NM_001457.4(FLNB):c.906+106A>G	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187052	NM_001457.4(FLNB):c.906+267T>G	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287723	NM_001457.4(FLNB):c.906+274_906+275insTTAT	FLNB	Insertion (intron variant)	not provided	GBenign
Select item 1279110	NM_001457.4(FLNB):c.906+274_906+275insTTATTTATTTATTTAT	FLNB	Microsatellite (intron variant)	not provided	GBenign
Select item 1234403	NM_001457.4(FLNB):c.906+274_906+275insTTATTTATTTAT	FLNB	Microsatellite (intron variant)	not provided	GBenign
Select item 1284034	NM_001457.4(FLNB):c.906+276TATT[11]	FLNB	Microsatellite (intron variant)	not provided	GBenign
Select item 1273165	NM_001457.4(FLNB):c.906+276TATT[12]	FLNB	Microsatellite (intron variant)	not provided	GBenign
Select item 1250587	NM_001457.4(FLNB):c.906+278_906+279insGTATTTATTTAT	FLNB	Insertion (intron variant)	not provided	GBenign
Select item 1218250	NM_001457.4(FLNB):c.906+278_906+279insGTATTTATTTATTTAT	FLNB	Insertion (intron variant)	not provided	GLikely benign
Select item 1202695	NM_001457.4(FLNB):c.906+276TATT[10]	FLNB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 683072	NM_001457.4(FLNB):c.906+275G>T	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233469	NM_001457.4(FLNB):c.906+326G>C	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258123	NM_001457.4(FLNB):c.927T>C (p.Ser309=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 388470	NM_001457.4(FLNB):c.982A>G (p.Lys328Glu)	FLNB (K328E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 672726	NM_001457.4(FLNB):c.984+194C>G	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283877	NM_001457.4(FLNB):c.985-96G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432006	NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp)	FLNB (G361D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 386346	NM_001457.4(FLNB):c.1101A>G (p.Val367=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1190145	NM_001457.4(FLNB):c.1148-188G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449801	NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)	FLNB (K399R)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +5 more	GConflicting classifications of pathogenicity
Select item 1041138	NM_001457.4(FLNB):c.1249G>A (p.Val417Met)	FLNB (V417M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 452161	NM_001457.4(FLNB):c.1259C>T (p.Pro420Leu)	FLNB (P420L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 346309	NM_001457.4(FLNB):c.1290C>G (p.Ile430Met)	FLNB (I430M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593878	NM_001457.4(FLNB):c.1303G>A (p.Asp435Asn)	FLNB (D435N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899410	NM_001457.4(FLNB):c.1327G>A (p.Val443Ile)	FLNB (V443I)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 683077	NM_001457.4(FLNB):c.1345+160A>G	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683078	NM_001457.4(FLNB):c.1345+260A>C	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214633	NM_001457.4(FLNB):c.1345+267C>T	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 899411	NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln)	FLNB (R456Q)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 287869	NM_001457.4(FLNB):c.1472T>C (p.Met491Thr)	FLNB (M491T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1924822	NM_001457.4(FLNB):c.1478G>T (p.Gly493Val)	FLNB (G493V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206786	NM_001457.4(FLNB):c.1483+35G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203110	NM_001457.4(FLNB):c.1483+131C>G	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183118	NM_001457.4(FLNB):c.1483+148G>C	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202669	NM_001457.4(FLNB):c.1484-195A>C	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683080	NM_001457.4(FLNB):c.1484-170A>G	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259160	NM_001457.4(FLNB):c.1484-101T>A	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673073	NM_001457.4(FLNB):c.1484-90del	FLNB	Deletion (intron variant)	not provided	GBenign
Select item 2429000	NM_001457.4(FLNB):c.1484-6C>G	FLNB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1307655	NM_001457.4(FLNB):c.1505A>G (p.Lys502Arg)	FLNB (K502R)	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)	not specified +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 +2 more	GConflicting classifications of pathogenicity
Select item 372367	NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp)	FLNB (G530W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 675059	NM_001457.4(FLNB):c.1610+39G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180047	NM_001457.4(FLNB):c.1610+65A>G	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234717	NM_001457.4(FLNB):c.1610+130del	FLNB	Deletion (intron variant)	not provided	GBenign
Select item 1211833	NM_001457.4(FLNB):c.1611-171A>G	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258099	NM_001457.4(FLNB):c.1611-4G>A	FLNB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 346313	NM_001457.4(FLNB):c.1628T>C (p.Val543Ala)	FLNB (V543A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3252144	NM_001457.4(FLNB):c.1657del (p.Arg553fs)	FLNB (R553fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1985362	NM_001457.4(FLNB):c.1658G>A (p.Arg553His)	FLNB (R553H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 392383	NM_001457.4(FLNB):c.1679A>G (p.His560Arg)	FLNB (H560R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 5