2317[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
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 902083	NM_001457.3(FLNB):c.-160C>G	FLNB	Single nucleotide variant	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 902084	NM_001457.3(FLNB):c.-145G>T	FLNB	Single nucleotide variant	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 346290	NM_001457.4(FLNB):c.-131G>C	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 346291	NM_001457.4(FLNB):c.-107T>G	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 346292	NM_001457.4(FLNB):c.-103A>G	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 902963	NM_001457.4(FLNB):c.-97C>T	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GLikely benign
Select item 346293	NM_001457.4(FLNB):c.-95C>G	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GLikely benign
Select item 902964	NM_001457.4(FLNB):c.-88C>A	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 346294	NM_001457.4(FLNB):c.-81G>C	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 346295	NM_001457.4(FLNB):c.-76C>A	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GUncertain significance
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 346297	NM_001457.4(FLNB):c.-4C>T	FLNB	Single nucleotide variant (5 prime UTR variant)	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 1652105	NM_001457.4(FLNB):c.6G>A (p.Pro2=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516180	NM_001457.4(FLNB):c.9A>G (p.Val3=)	FLNB	Single nucleotide variant (synonymous variant)	FLNB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2818577	NM_001457.4(FLNB):c.44dup (p.Lys16fs)	FLNB (K16fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2843092	NM_001457.4(FLNB):c.62C>G (p.Thr21Arg)	FLNB (T21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068361	NM_001457.4(FLNB):c.63G>A (p.Thr21=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015280	NM_001457.4(FLNB):c.81C>T (p.Asn27=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1453088	NM_001457.4(FLNB):c.89dup (p.Lys31fs)	FLNB (K31fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2986441	NM_001457.4(FLNB):c.101A>G (p.Asn34Ser)	FLNB (N34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385388	NM_001457.4(FLNB):c.107G>T (p.Arg36Leu)	FLNB (R36L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 439738	NM_001457.4(FLNB):c.107G>A (p.Arg36His)	FLNB (R36H)	Single nucleotide variant (missense variant)	FLNB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1532713	NM_001457.4(FLNB):c.118C>T (p.Leu40=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666561	NM_001457.4(FLNB):c.123G>A (p.Gln41=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279189	NM_001457.4(FLNB):c.124A>C (p.Thr42Pro)	FLNB (T42P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2001794	NM_001457.4(FLNB):c.124A>G (p.Thr42Ala)	FLNB (T42A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3279190	NM_001457.4(FLNB):c.125C>A (p.Thr42Asn)	FLNB (T42N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1564150	NM_001457.4(FLNB):c.126C>T (p.Thr42=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095657	NM_001457.4(FLNB):c.146G>T (p.Arg49Leu)	FLNB (R49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971136	NM_001457.4(FLNB):c.151A>G (p.Ile51Val)	FLNB (I51V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994547	NM_001457.4(FLNB):c.163_171del (p.Glu55_Leu57del)	FLNB	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2187835	NM_001457.4(FLNB):c.162C>T (p.Leu54=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562625	NM_001457.4(FLNB):c.162C>G (p.Leu54=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3095658	NM_001457.4(FLNB):c.173G>T (p.Ser58Ile)	FLNB (S58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188161	NM_001457.4(FLNB):c.181C>G (p.Arg61Gly)	FLNB (R61G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850297	NM_001457.4(FLNB):c.184A>G (p.Met62Val)	FLNB (M62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900408	NM_001457.4(FLNB):c.187T>C (p.Tyr63His)	FLNB (Y63H)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +1 more	GUncertain significance
Select item 1176159	NM_001457.4(FLNB):c.195G>A (p.Lys65=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 587608	NM_001457.4(FLNB):c.199C>T (p.His67Tyr)	FLNB (H67Y)	Single nucleotide variant (missense variant)	Larsen syndrome +1 more	GUncertain significance
Select item 1460751	NM_001457.4(FLNB):c.205C>T (p.Arg69Trp)	FLNB (R69W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388926	NM_001457.4(FLNB):c.212C>G (p.Thr71Ser)	FLNB (T71S)	Single nucleotide variant (missense variant)	FLNB-related disorder +1 more	GUncertain significance
Select item 2505550	NM_001457.4(FLNB):c.219_222dup (p.Met75fs)	FLNB (M75fs)	Duplication (frameshift variant)	Spondylocarpotarsal synostosis syndrome	GLikely pathogenic
Select item 2815960	NM_001457.4(FLNB):c.228G>C (p.Gln76His)	FLNB (Q76H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893761	NM_001457.4(FLNB):c.231C>T (p.Leu77=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 346298	NM_001457.4(FLNB):c.233A>G (p.Glu78Gly)	FLNB (E78G)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +1 more	GUncertain significance
Select item 811631	NM_001457.4(FLNB):c.246G>C (p.Val82=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 900409	NM_001457.4(FLNB):c.247G>T (p.Ala83Ser)	FLNB (A83S)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders	GUncertain significance
Select item 346299	NM_001457.4(FLNB):c.249G>A (p.Ala83=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2957270	NM_001457.4(FLNB):c.265C>T (p.Arg89Cys)	FLNB (R89C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908435	NM_001457.4(FLNB):c.265C>G (p.Arg89Gly)	FLNB (R89G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060773	NM_001457.4(FLNB):c.271A>G (p.Ser91Gly)	FLNB (S91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015921	NM_001457.4(FLNB):c.273C>T (p.Ser91=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 506644	NM_001457.4(FLNB):c.274A>G (p.Ile92Val)	FLNB (I92V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2969019	NM_001457.4(FLNB):c.279G>A (p.Lys93=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 386345	NM_001457.4(FLNB):c.282C>T (p.Leu94=)	FLNB	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1349793	NM_001457.4(FLNB):c.289A>G (p.Ile97Val)	FLNB (I97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929636	NM_001457.4(FLNB):c.292+1G>T	FLNB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 258103	NM_001457.4(FLNB):c.292+8C>A	FLNB	Single nucleotide variant (intron variant)	Connective tissue disorder +8 more	GBenign/Likely benign
Select item 379652	NM_001457.4(FLNB):c.292+12G>C	FLNB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 258102	NM_001457.4(FLNB):c.292+14C>G	FLNB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1638057	NM_001457.4(FLNB):c.292+15C>T	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020040	NM_001457.4(FLNB):c.292+16G>T	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917249	NM_001457.4(FLNB):c.292+16G>C	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954980	NM_001457.4(FLNB):c.292+18G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely 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 2980211	NM_001457.4(FLNB):c.293-20G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599537	NM_001457.4(FLNB):c.293-17T>G	FLNB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2117586	NM_001457.4(FLNB):c.293-15T>G	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004382	NM_001457.4(FLNB):c.293-14G>A	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699770	NM_001457.4(FLNB):c.293-11T>A	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033762	NM_001457.4(FLNB):c.293-11T>G	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049127	NM_001457.4(FLNB):c.293-6C>T	FLNB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1719309	NM_001457.4(FLNB):c.293A>G (p.Asp98Gly)	FLNB (D98G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855701	NM_001457.4(FLNB):c.303del (p.Ile102fs)	FLNB (I102fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3279201	NM_001457.4(FLNB):c.310G>T (p.Asp104Tyr)	FLNB (D104Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172466	NM_001457.4(FLNB):c.317A>G (p.Asn106Ser)	FLNB (N106S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2730498	NM_001457.4(FLNB):c.323A>G (p.Lys108Arg)	FLNB (K108R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877107	NM_001457.4(FLNB):c.324G>A (p.Lys108=)	FLNB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996791	NM_001457.4(FLNB):c.328A>C (p.Ile110Leu)	FLNB (I110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021432	NM_001457.4(FLNB):c.329T>G (p.Ile110Ser)	FLNB (I110S)	Single nucleotide variant (missense 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 1408770	NM_001457.4(FLNB):c.379G>A (p.Val127Met)	FLNB (V127M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2788825	NM_001457.4(FLNB):c.410A>G (p.Lys137Arg)	FLNB (K137R)	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 736702	NM_001457.4(FLNB):c.420G>A (p.Thr140=)	FLNB	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity

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