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Links from MedGen

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNB
(G925D)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
MYH3
(V1499fs)
Microsatellite
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(Y1676fs +1 more)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(F964L)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
+1 more
GConflicting classifications of pathogenicity
FLNB
(E1179*)
Single nucleotide variant
(nonsense)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(M75fs)
Duplication
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
Deletion
(nonsense)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(Y233fs)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(L824P)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
GUncertain significance
FLNB, FLNB-AS1
(L2427V +3 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
+2 more
GUncertain significance
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
(R1924* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
FLNB
(R2278H +3 more)
Single nucleotide variant
(missense variant)
Atelosteogenesis type III
+5 more
GUncertain significance
FLNB
(V477fs)
Indel
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB
(E498fs)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB
(V402fs)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB
(R415*)
Single nucleotide variant
(nonsense)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB
(R999Q)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
+5 more
GUncertain significance
FLNB
(V1109I)
Single nucleotide variant
(missense variant)
FLNB-related disorder
+6 more
GConflicting classifications of pathogenicity
FLNB
Deletion
(splice acceptor variant +1 more)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB
Deletion
(splice acceptor variant +1 more)
Spondylocarpotarsal synostosis syndrome
GPathogenic
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
(R1986C +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FLNB
Deletion
(splice acceptor variant)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB
(M1792L +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GLikely benign
FLNB
(H532fs)
Duplication
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GPathogenic
MYH3
(L900fs)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
MYH3
(F645C)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
MYH3
Single nucleotide variant
(splice donor variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+4 more
GPathogenic/Likely pathogenic
MYH3
(S242F +1 more)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
+1 more
GUncertain significance
MYH3
Deletion
(intron variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+1 more
GPathogenic
MYH3
(Y47*)
Single nucleotide variant
(nonsense)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+1 more
GPathogenic
MYH3
Single nucleotide variant
(splice donor variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+2 more
GPathogenic/Likely pathogenic
MYH3
Single nucleotide variant
(splice donor variant)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
+1 more
GPathogenic
FLNB
(I1590fs +1 more)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(G1149fs)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
MYH3
(Q807*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
MYH3
(N662fs)
Deletion
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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)
not specified
+8 more
GBenign/Likely benign
FLNB
(V1195M)
Single nucleotide variant
(missense variant)
not provided
+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)
not specified
+8 more
GBenign/Likely benign
FLNB
(G1464A +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FLNB
(V291M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLNB
(K2006R +3 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
FLNB
Single nucleotide variant
(intron variant)
Atelosteogenesis type III
+8 more
GBenign/Likely benign
FLNB
(M270V)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+9 more
GConflicting classifications of pathogenicity
MYH3
(S243del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GLikely pathogenic
FLNB, FLNB-AS1
(Y2343* +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Spondylocarpotarsal synostosis syndrome
Gnot provided
FLNB
(R649*)
Single nucleotide variant
(nonsense)
FLNB-Related Spectrum Disorders
+1 more
GPathogenic
FLNB
(G1850* +3 more)
Single nucleotide variant
(nonsense)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB
(R2004* +3 more)
Single nucleotide variant
(nonsense)
Spondylocarpotarsal synostosis syndrome
GPathogenic
FLNB
(R1607* +1 more)
Single nucleotide variant
(nonsense)
Spondylocarpotarsal synostosis syndrome
GLikely pathogenic
FLNB
(R818*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FLNB
(S2113fs +3 more)
Deletion
(frameshift variant)
Spondylocarpotarsal synostosis syndrome
GPathogenic
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