ClinVar for MedGen (Select 96579) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1569345	NM_001457.4(FLNB):c.4986C>T (p.Ala1662=)	FLNB	Single nucleotide variant (synonymous variant)	Atelosteogenesis type III +5 more	GLikely benign
Select item 1480598	NM_001457.4(FLNB):c.3724+4G>C	FLNB	Single nucleotide variant (intron variant)	Atelosteogenesis type III +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)	Spondylocarpotarsal synostosis syndrome +5 more	GUncertain significance
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 1306802	NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)	FLNB (V1109I)	Single nucleotide variant (missense variant)	Atelosteogenesis type III +6 more	GConflicting classifications of pathogenicity
Select item 1047487	NM_001457.4(FLNB):c.1693G>A (p.Gly565Arg)	FLNB (G565R)	Single nucleotide variant (missense variant)	Boomerang dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 902267	NM_001457.4(FLNB):c.3350A>G (p.His1117Arg)	FLNB (H1117R)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +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 723119	NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)	FLNB (M1792L +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely benign
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 449027	NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val)	FLNB (A1577V +1 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III +5 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 346353	NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys)	FLNB (E1973K +3 more)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 346350	NM_001457.4(FLNB):c.5426-10G>A	FLNB	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 346334	NM_001457.4(FLNB):c.3583G>A (p.Val1195Met)	FLNB (V1195M)	Single nucleotide variant (missense variant)	Connective tissue disorder +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)	Spondylocarpotarsal synostosis syndrome +7 more	GBenign/Likely benign
Select item 346316	NM_001457.4(FLNB):c.1919C>T (p.Thr640Met)	FLNB (T640M)	Single nucleotide variant (missense variant)	Connective tissue disorder +8 more	GBenign/Likely benign
Select item 289425	NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala)	FLNB (G1464A +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 258116	NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)	FLNB (K2006R +3 more)	Single nucleotide variant (missense variant)	FLNB-Related Spectrum Disorders +8 more	GBenign/Likely benign
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 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 6404	NM_001457.4(FLNB):c.703T>C (p.Ser235Pro)	FLNB (S235P)	Single nucleotide variant (missense variant)	Boomerang dysplasia	GPathogenic
Select item 6403	NM_001457.4(FLNB):c.512T>G (p.Leu171Arg)	FLNB (L171R)	Single nucleotide variant (missense variant)	Boomerang dysplasia	GPathogenic

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Items: 24