ClinVar for MedGen (Select 777149) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382019	NM_001457.4(FLNB):c.1652A>T (p.Lys551Ile)	FLNB (K551I)	Single nucleotide variant (missense variant)	Boomerang dysplasia +4 more	GUncertain significance
Select item 2963035	NM_001457.4(FLNB):c.4813C>T (p.Arg1605Cys)	FLNB (R1636C +1 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type I +5 more	GConflicting classifications of pathogenicity
Select item 2734540	NM_001457.4(FLNB):c.2195A>G (p.Tyr732Cys)	FLNB (Y732C)	Single nucleotide variant (missense variant)	Atelosteogenesis type I +6 more	GUncertain significance
Select item 2572516	NM_001457.4(FLNB):c.5696T>A (p.Ile1899Asn)	FLNB (I1875N +3 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III	GUncertain significance
Select item 1990088	NM_001457.4(FLNB):c.3064G>A (p.Gly1022Arg)	FLNB (G1022R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1679680	NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val)	FLNB, FLNB-AS1 (L2427V +3 more)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +2 more	GUncertain significance
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)	not provided +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)	Atelosteogenesis type III +4 more	GUncertain significance
Select item 1417463	NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys)	FLNB, FLNB-AS1 (R2322C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
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 1328287	NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln)	FLNB (R999Q)	Single nucleotide variant (missense variant)	not provided +5 more	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 986736	NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)	FLNB (V2551I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 932049	NM_001457.4(FLNB):c.644T>A (p.Ile215Asn)	FLNB (I215N)	Single nucleotide variant (missense variant)	Atelosteogenesis type III	GLikely pathogenic
Select item 931610	NM_001457.4(FLNB):c.2417C>A (p.Thr806Lys)	FLNB (T806K)	Single nucleotide variant (missense variant)	Atelosteogenesis type III +1 more	GUncertain significance
Select item 931081	NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu)	FLNB (W2618L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 930590	NM_001457.4(FLNB):c.6164G>A (p.Gly2055Asp)	FLNB (G2031D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 915265	NM_001457.4(FLNB):c.1739G>T (p.Gly580Val)	FLNB (G580V)	Single nucleotide variant (missense variant)	Atelosteogenesis type III	GLikely pathogenic
Select item 902267	NM_001457.4(FLNB):c.3350A>G (p.His1117Arg)	FLNB (H1117R)	Single nucleotide variant (missense variant)	Atelosteogenesis type I +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)	Atelosteogenesis type I +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 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 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 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)	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)	Connective tissue disorder +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)	Connective tissue disorder +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 346301	NM_001457.4(FLNB):c.776C>T (p.Ala259Val)	FLNB (A259V)	Single nucleotide variant (missense variant)	Atelosteogenesis type I +4 more	GUncertain significance
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)	not specified +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)	FLNB-Related Spectrum Disorders +9 more	GConflicting classifications of pathogenicity
Select item 194935	NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)	FLNB (G925C)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 21295	NM_001457.4(FLNB):c.629G>T (p.Gly210Val)	FLNB (G210V)	Single nucleotide variant (missense variant)	Atelosteogenesis type III	Gnot provided
Select item 21293	NM_001457.4(FLNB):c.602C>T (p.Ala201Val)	FLNB (A201V)	Single nucleotide variant (missense variant)	Atelosteogenesis type III	Gnot provided
Select item 21288	NM_001457.4(FLNB):c.4927G>T (p.Ala1643Ser)	FLNB (A1643S +1 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III	Gnot provided
Select item 21286	NM_001457.4(FLNB):c.4804T>C (p.Ser1602Pro)	FLNB (S1602P +1 more)	Single nucleotide variant (missense variant)	Atelosteogenesis type III	Gnot provided
Select item 6406	NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser)	FLNB (G1691S +1 more)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +5 more	GPathogenic
Select item 6402	NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg)	FLNB (G751R)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 6401	NM_001457.4(FLNB):c.604A>G (p.Met202Val)	FLNB (M202V)	Single nucleotide variant (missense variant)	Atelosteogenesis type I +1 more	GPathogenic

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Links from MedGen

Items: 43