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Links from MedGen

Items: 1 to 100 of 187

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FN1
(Y876C)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GUncertain significance
FN1
(Q1004fs)
Insertion
(frameshift variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GLikely pathogenic
FN1
(Q1004fs)
Deletion
(frameshift variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GUncertain significance
FN1
(Q1004fs)
Duplication
(frameshift variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GLikely pathogenic
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GLikely pathogenic
FN1
(D869N)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GUncertain significance
FN1
(E1977* +6 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GUncertain significance
FN1
(C87W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
COL2A1
Single nucleotide variant
(intron variant)
not provided
+16 more
GUncertain significance
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign/Likely benign
FN1
Microsatellite
(intron variant)
not provided
+2 more
GBenign/Likely benign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign/Likely benign
FN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
FN1
Single nucleotide variant
(synonymous variant +1 more)
Glomerulopathy with fibronectin deposits 2
+2 more
GLikely benign
FN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
FN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
FN1, LOC126806499
Single nucleotide variant
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GLikely benign
FN1
Single nucleotide variant
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GLikely benign
FN1
(T1063A)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GLikely benign
COL2A1
Single nucleotide variant
(intron variant)
not provided
+16 more
GLikely benign
FN1, LOC126806498
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
FN1
Single nucleotide variant
(synonymous variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GLikely benign
FN1
Single nucleotide variant
(synonymous variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign/Likely benign
FN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
FN1
Single nucleotide variant
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GBenign/Likely benign
FN1, LOC126806496
Single nucleotide variant
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GLikely benign
FN1
Single nucleotide variant
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GLikely benign
FN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ATIC, FN1
Deletion
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign/Likely benign
FN1, LOC126806496
Single nucleotide variant
(synonymous variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GLikely benign
FN1
(T805A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
FN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GLikely benign
FN1
Single nucleotide variant
(synonymous variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GLikely benign
FN1, LOC126806497
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GLikely benign
ATIC, FN1
Single nucleotide variant
(synonymous variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GLikely benign
FN1
Single nucleotide variant
(synonymous variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GLikely benign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GLikely benign
COL2A1
(R863Q +1 more)
Single nucleotide variant
(missense variant)
Achondrogenesis type II
+16 more
GConflicting classifications of pathogenicity
FN1
(G198R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FN1
(D288N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FN1
(R1837C +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FN1, LOC126806496
(T1877S +3 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GUncertain significance
FN1
(I2050V +16 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FN1
(K1050T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
FN1
(T906I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FN1
(K1796E +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ATIC, FN1
(R2056C +16 more)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+3 more
GUncertain significance
ATIC, FN1
(D2088del +16 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GUncertain significance
FN1
(R515Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FN1
(P717R)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GConflicting classifications of pathogenicity
FN1
(I1536V +1 more)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
COL2A1
(P884fs +1 more)
Deletion
(frameshift variant)
Achondrogenesis type II
+16 more
GPathogenic
FN1
(P1438R +1 more)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+3 more
GUncertain significance
FN1
(Y1323C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
FN1
(V1067M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FN1
(G264S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FN1, LOC126806497
(S1315L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FN1
(T960S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FN1
Single nucleotide variant
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
FN1
(N624S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FN1
(V1429I +1 more)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
FN1
(S1647G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
FN1, LOC126806496
(R1820H +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FN1
(M494T)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GUncertain significance
COL2A1
(R586H +1 more)
Single nucleotide variant
(missense variant)
not provided
+16 more
GConflicting classifications of pathogenicity
FN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
FN1
(P303S)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
FN1
(V1139I)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GUncertain significance
FN1
(R222H)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
ATIC, FN1
(V2321I +16 more)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
FN1
(T1699fs +1 more)
Microsatellite
(frameshift variant +1 more)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
FN1
(P1289L)
Single nucleotide variant
(missense variant +1 more)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
FN1
(A1529T +1 more)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GUncertain significance
FN1
(A1459E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FN1
(P1601S +1 more)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GConflicting classifications of pathogenicity
FN1
(D250A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FN1
(P1655L +1 more)
Single nucleotide variant
(missense variant +1 more)
Spondylometaphyseal dysplasia - Sutcliffe type
+1 more
GUncertain significance
FN1
(W630G)
Single nucleotide variant
(missense variant)
Spondylometaphyseal dysplasia - Sutcliffe type
GUncertain significance
FN1
(I1740F +3 more)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GBenign/Likely benign
FN1
(G1483R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FN1, LOC122861289
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign
FN1
Microsatellite
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GBenign/Likely benign
FN1
Microsatellite
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign
FN1
Single nucleotide variant
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GBenign/Likely benign
FN1
Single nucleotide variant
(intron variant)
Spondylometaphyseal dysplasia - Sutcliffe type
+2 more
GBenign
FN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
FN1
Single nucleotide variant
(intron variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GBenign
FN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FN1
(T817P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
FN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FN1
(V1960I +16 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
ATIC, FN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FN1
(I1911V +16 more)
Single nucleotide variant
(missense variant)
Glomerulopathy with fibronectin deposits 2
+2 more
GBenign/Likely benign
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