ClinVar for MedGen (Select 104500) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235076	NM_001457.4(FLNB):c.4520T>C (p.Phe1507Ser)	FLNB (F1507S +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 3234968	NM_001457.4(FLNB):c.928G>A (p.Asp310Asn)	FLNB (D310N)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 2682174	NM_001457.4(FLNB):c.5465G>A (p.Gly1822Glu)	FLNB (G1798E +3 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GLikely benign
Select item 2585277	NM_001457.4(FLNB):c.3173C>T (p.Pro1058Leu)	FLNB (P1058L)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 2573059	NM_001457.4(FLNB):c.6994G>A (p.Glu2332Lys)	FLNB (E2308K +3 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 2444317	NM_001457.4(FLNB):c.4570G>C (p.Gly1524Arg)	FLNB (G1524R +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 2442225	NM_001457.4(FLNB):c.7624T>C (p.Ser2542Pro)	FLNB, FLNB-AS1 (S2518P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Larsen syndrome	GUncertain significance
Select item 2431809	NM_001457.4(FLNB):c.545T>G (p.Leu182Arg)	FLNB (L182R)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 2413304	NM_001457.4(FLNB):c.4222G>A (p.Gly1408Ser)	FLNB (G1408S)	Single nucleotide variant (missense variant)	Larsen syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1709602	NM_001457.4(FLNB):c.4427A>G (p.Asp1476Gly)	FLNB (D1476G +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 1705102	NM_001457.4(FLNB):c.4604G>A (p.Ser1535Asn)	FLNB (S1535N +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GLikely pathogenic
Select item 1683442	NM_001457.4(FLNB):c.4550C>A (p.Ala1517Asp)	FLNB (A1517D +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GLikely pathogenic
Select item 1683441	NM_001457.4(FLNB):c.4229C>G (p.Pro1410Arg)	FLNB (P1410R)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 1683439	NM_001457.4(FLNB):c.591T>A (p.Asn197Lys)	FLNB (N197K)	Single nucleotide variant (missense variant)	Larsen syndrome	GLikely pathogenic
Select item 1683438	NM_001457.4(FLNB):c.4570G>A (p.Gly1524Ser)	FLNB (G1524S +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GLikely pathogenic
Select item 1679680	NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val)	FLNB, FLNB-AS1 (L2427V +3 more)	Single nucleotide variant (missense variant)	Larsen syndrome +2 more	GUncertain significance
Select item 1569345	NM_001457.4(FLNB):c.4986C>T (p.Ala1662=)	FLNB	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1527976	NM_001457.4(FLNB):c.4967A>T (p.Asp1656Val)	FLNB (D1656V +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GUncertain significance
Select item 1480598	NM_001457.4(FLNB):c.3724+4G>C	FLNB	Single nucleotide variant (intron variant)	Spondylocarpotarsal synostosis syndrome +5 more	GUncertain significance
Select item 1426840	NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys)	FLNB (Y1561C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1372524	NM_001457.4(FLNB):c.6866G>A (p.Arg2289His)	FLNB (R2278H +3 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III +5 more	GUncertain significance
Select item 1342582	NM_001457.4(FLNB):c.1346-2A>G	FLNB	Single nucleotide variant (splice acceptor variant)	Larsen syndrome	GUncertain significance
Select item 1342377	NM_001457.4(FLNB):c.5059T>C (p.Tyr1687His)	FLNB (Y1687H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1328287	NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln)	FLNB (R999Q)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +5 more	GUncertain significance
Select item 1319922	NM_001457.4(FLNB):c.1298C>A (p.Ala433Asp)	FLNB (A433D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306802	NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)	FLNB (V1109I)	Single nucleotide variant (missense variant)	FLNB-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 1048081	NM_001457.4(FLNB):c.501C>A (p.Asp167Glu)	FLNB (D167E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 986736	NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)	FLNB (V2551I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 902267	NM_001457.4(FLNB):c.3350A>G (p.His1117Arg)	FLNB (H1117R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 899585	NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile)	FLNB (T1609I +1 more)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +5 more	GUncertain significance
Select item 801980	NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr)	FLNB (I1542T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 723119	NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)	FLNB (M1792L +3 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III +5 more	GLikely benign
Select item 694710	NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val)	FLNB (A1643V +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome	GPathogenic
Select item 694680	NM_004273.5(CHST3):c.1254GAA[1] (p.Lys419del)	CHST3 (K419del)	Microsatellite (inframe_deletion)	Larsen syndrome	GPathogenic
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 522782	NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)	FLNB (G1691D +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome +2 more	GPathogenic/Likely pathogenic
Select item 449027	NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val)	FLNB (A1577V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 372367	NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp)	FLNB (G530W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 346353	NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys)	FLNB (E1973K +3 more)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +6 more	GConflicting classifications of pathogenicity
Select item 346350	NM_001457.4(FLNB):c.5426-10G>A	FLNB	Single nucleotide variant (intron variant)	Spondylocarpotarsal synostosis syndrome +8 more	GBenign/Likely benign
Select item 346334	NM_001457.4(FLNB):c.3583G>A (p.Val1195Met)	FLNB (V1195M)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 346323	NM_001457.4(FLNB):c.2523T>G (p.Pro841=)	FLNB, LOC129936935	Single nucleotide variant (synonymous variant)	FLNB-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 346316	NM_001457.4(FLNB):c.1919C>T (p.Thr640Met)	FLNB (T640M)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +8 more	GBenign/Likely benign
Select item 300685	NM_004273.5(CHST3):c.*4884C>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300684	NM_004273.5(CHST3):c.*4869G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300683	NM_004273.5(CHST3):c.*4865C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GUncertain significance
Select item 300682	NM_004273.5(CHST3):c.*4821G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300681	NM_004273.5(CHST3):c.*4820C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300680	NM_004273.5(CHST3):c.*4785G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GBenign
Select item 300679	NM_004273.5(CHST3):c.*4770G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GLikely benign
Select item 300678	NM_004273.5(CHST3):c.*4628A>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300677	NM_004273.5(CHST3):c.*4609G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300676	NM_004273.5(CHST3):c.*4534G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GUncertain significance
Select item 300675	NM_004273.5(CHST3):c.*4533C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GBenign
Select item 300674	NM_004273.5(CHST3):c.*4498A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300673	NM_004273.5(CHST3):c.*4495G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300672	NM_004273.5(CHST3):c.*4450G>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GUncertain significance
Select item 300671	NM_004273.5(CHST3):c.*4432T>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GBenign
Select item 300670	NM_004273.5(CHST3):c.*4421G>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GBenign
Select item 300669	NM_004273.5(CHST3):c.*4409C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300668	NM_004273.5(CHST3):c.*4341C>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GUncertain significance
Select item 300667	NM_004273.5(CHST3):c.*4336A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300666	NM_004273.5(CHST3):c.*4210T>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 300665	NM_004273.5(CHST3):c.*4162A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 300664	NM_004273.5(CHST3):c.*4107T>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GBenign
Select item 300663	NM_004273.5(CHST3):c.*4095A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300662	NM_004273.5(CHST3):c.*4049C>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300661	NM_004273.5(CHST3):c.*3987G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GBenign
Select item 300660	NM_004273.5(CHST3):c.*3932G>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GBenign
Select item 300659	NM_004273.5(CHST3):c.*3905C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 300658	NM_004273.5(CHST3):c.*3890C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300657	NM_004273.5(CHST3):c.*3884A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300656	NM_004273.5(CHST3):c.*3857G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 300655	NM_004273.5(CHST3):c.*3785G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GBenign
Select item 300654	NM_004273.5(CHST3):c.*3701AG[1]	CHST3	Microsatellite (3 prime UTR variant)	Larsen syndrome +3 more	GLikely benign
Select item 300653	NM_004273.5(CHST3):c.*3666G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300652	NM_004273.5(CHST3):c.*3571T>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300651	NM_004273.5(CHST3):c.*3565A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300650	NM_004273.5(CHST3):c.*3555G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GLikely benign
Select item 300649	NM_004273.5(CHST3):c.*3477G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GBenign
Select item 300648	NM_004273.5(CHST3):c.*3445G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GUncertain significance
Select item 300647	NM_004273.5(CHST3):c.*3384G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300646	NM_004273.5(CHST3):c.*3306A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300645	NM_004273.5(CHST3):c.*3245G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300644	NM_004273.5(CHST3):c.*3167G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300643	NM_004273.5(CHST3):c.*3131G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300642	NM_004273.5(CHST3):c.*3090T>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300641	NM_004273.5(CHST3):c.*3053C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GBenign
Select item 300640	NM_004273.5(CHST3):c.*3039C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300639	NM_004273.5(CHST3):c.*3022A>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300638	NM_004273.5(CHST3):c.2843_2844del	CHST3	Deletion (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300637	NM_004273.5(CHST3):c.*2826G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GLikely benign
Select item 300636	NM_004273.5(CHST3):c.*2718G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GLikely benign
Select item 300635	NM_004273.5(CHST3):c.*2660C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GUncertain significance
Select item 300634	NM_004273.5(CHST3):c.*2656A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300633	NM_004273.5(CHST3):c.*2592C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GUncertain significance
Select item 300632	NM_004273.5(CHST3):c.*2422T>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GBenign
Select item 300631	NM_004273.5(CHST3):c.*2391C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GLikely benign
Select item 300630	NM_004273.5(CHST3):c.*2349A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GBenign

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