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Links from MedGen

Items: 1 to 100 of 203

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNB
(G1798E +3 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GLikely benign
FLNB
(P1058L)
Single nucleotide variant
(missense variant)
Larsen syndrome
GUncertain significance
FLNB
(E2308K +3 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GUncertain significance
FLNB
(G1524R +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GUncertain significance
FLNB, FLNB-AS1
(S2518P +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Larsen syndrome
GUncertain significance
FLNB
(L182R)
Single nucleotide variant
(missense variant)
Larsen syndrome
GUncertain significance
FLNB
(D1476G +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GUncertain significance
FLNB
(S1535N +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GLikely pathogenic
FLNB
(A1517D +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GLikely pathogenic
FLNB
(P1410R)
Single nucleotide variant
(missense variant)
Larsen syndrome
GUncertain significance
FLNB
(N197K)
Single nucleotide variant
(missense variant)
Larsen syndrome
GLikely pathogenic
FLNB
(G1524S +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GLikely pathogenic
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
(D1656V +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GUncertain significance
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
Single nucleotide variant
(splice acceptor variant)
Larsen syndrome
GUncertain significance
FLNB
(Y1687H +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
+1 more
GConflicting classifications of pathogenicity
FLNB
(R999Q)
Single nucleotide variant
(missense variant)
Spondylocarpotarsal synostosis syndrome
+5 more
GUncertain significance
FLNB
(A433D)
Single nucleotide variant
(missense variant)
Larsen syndrome
GUncertain significance
FLNB
(V1109I)
Single nucleotide variant
(missense variant)
FLNB-related condition
+6 more
GConflicting classifications of pathogenicity
FLNB
(D167E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FLNB
(V2551I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FLNB
(H1117R)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+5 more
GUncertain significance
FLNB
(T1609I +1 more)
Single nucleotide variant
(missense variant)
FLNB-Related Spectrum Disorders
+5 more
GUncertain significance
FLNB
(I1542T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FLNB
(M1792L +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GLikely benign
FLNB
(A1643V +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
GPathogenic
CHST3
(K419del)
Microsatellite
(inframe_deletion)
Larsen syndrome
GPathogenic
FLNB
(H67Y)
Single nucleotide variant
(missense variant)
Larsen syndrome
+1 more
GUncertain significance
FLNB
(G1691D +1 more)
Single nucleotide variant
(missense variant)
Larsen syndrome
+2 more
GPathogenic/Likely pathogenic
FLNB
(A1577V +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNB
(G361D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia congenita
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia congenita
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia congenita
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GBenign
CHST3
Microsatellite
(3 prime UTR variant)
Larsen syndrome
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia congenita
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Deletion
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia congenita
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia congenita
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GLikely benign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Skeletal dysplasia
+3 more
GBenign
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GUncertain significance
CHST3
Single nucleotide variant
(3 prime UTR variant)
Larsen syndrome
+3 more
GLikely benign
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