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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNB
(P1603S +1 more)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
GPathogenic
FLNB
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
FLNB
Single nucleotide variant
(intron variant)
Spondylocarpotarsal synostosis syndrome
+5 more
GUncertain significance
FLNB
(Y1561C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
FLNB
(R2278H +3 more)
Single nucleotide variant
(missense variant)
Atelosteogenesis type III
+5 more
GUncertain significance
FLNB
(S1602Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FLNB
(R999Q)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
+5 more
GUncertain significance
FLNB
(V1109I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLNB
(S2204G +3 more)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
GUncertain significance
FLNB
(F1818L +3 more)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
GUncertain significance
FLNB
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
FLNB
(S1529P +1 more)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
GUncertain significance
FLNB
(M1206V)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
+1 more
GConflicting classifications of pathogenicity
FLNB
(H1117R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FLNB
(T1609I +1 more)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+5 more
GUncertain significance
FLNB
(M1792L +3 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
+5 more
GLikely benign
FLNB
(A1577V +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNB
(G530W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
FLNB
(E1973K +3 more)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+6 more
GConflicting classifications of pathogenicity
FLNB
Single nucleotide variant
(intron variant)
FLNB-Related Spectrum Disorders
+8 more
GBenign/Likely benign
FLNB
(V1195M)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+7 more
GConflicting classifications of pathogenicity
FLNB, LOC129936935
Single nucleotide variant
(synonymous variant)
FLNB-Related Spectrum Disorders
+7 more
GBenign/Likely benign
FLNB
(T640M)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+8 more
GBenign/Likely benign
FLNB
(A259V)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+3 more
GUncertain significance
FLNB
(G1464A +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FLNB
(K2006R +3 more)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
+8 more
GBenign/Likely benign
FLNB
Single nucleotide variant
(intron variant)
Spondylocarpotarsal synostosis syndrome
+8 more
GBenign/Likely benign
FLNB
(M270V)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+9 more
GConflicting classifications of pathogenicity
FLNB
(A173T)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
GPathogenic
FLNB
(L171Q)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(Q203P)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(C183W)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(G181V)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(D1583del +1 more)
Deletion
(inframe_deletion)
Atelosteogenesis type I
Gnot provided
FLNB
(W148R)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(M202V)
Single nucleotide variant
(missense variant)
Atelosteogenesis type III
+1 more
GPathogenic
FLNB
(A173V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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