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Items: 1 to 100 of 131

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
(D27E)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
FLNC
(R157H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
FLNC
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
FLNC
(V215M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
FLNC
(T302M)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GUncertain significance
FLNC
(E309K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+5 more
GUncertain significance
FLNC
(R334C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
FLNC
(V352M)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GUncertain significance
FLNC
(R361C)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLNC
(R361H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+5 more
GUncertain significance
FLNC
(R381H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+6 more
GConflicting classifications of pathogenicity
FLNC
(G389D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+7 more
GConflicting classifications of pathogenicity
FLNC
(T402I)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GConflicting classifications of pathogenicity
FLNC
(D409N)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
FLNC
(R420Q)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GConflicting classifications of pathogenicity
FLNC
(R421W)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(A443V)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC
(V491M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+5 more
GConflicting classifications of pathogenicity
FLNC
(K514T)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+3 more
GUncertain significance
FLNC
(E534Q)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(E536K)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(V563A)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC
(V586A)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(S589L)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+4 more
GConflicting classifications of pathogenicity
FLNC
(D646del)
Deletion
(inframe_deletion)
Myofibrillar myopathy 5
+5 more
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely benign
FLNC
(P675S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
FLNC
(A688T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GConflicting classifications of pathogenicity
FLNC
(E689K)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC
(R766W)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(R766Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+5 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 5
+4 more
GLikely benign
FLNC
(G771S)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+5 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(synonymous variant)
Distal myopathy with posterior leg and anterior hand involvement
+3 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
FLNC
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 5
+6 more
GBenign/Likely benign
FLNC
(G802S)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+4 more
GConflicting classifications of pathogenicity
FLNC
(I817T)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
FLNC
(F829V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(T834A)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GUncertain significance
FLNC
(R840H)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+4 more
GConflicting classifications of pathogenicity
FLNC
(S868G)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GUncertain significance
FLNC
(R879C)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+6 more
GConflicting classifications of pathogenicity
FLNC
(E913K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC
(G948R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
FLNC
(R991*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
FLNC
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
FLNC
(R1002W)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
FLNC
(S1005L)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+3 more
GUncertain significance
FLNC
(R1008C)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(G1019C)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GConflicting classifications of pathogenicity
FLNC
(H1045N)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
FLNC
(G1049F)
Indel
(missense variant)
Myofibrillar myopathy 5
+4 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(splice acceptor variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(A1136V)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+3 more
GUncertain significance
FLNC
(A1186V)
Single nucleotide variant
(missense variant)
Abnormality of the musculature
+6 more
GPathogenic/Likely pathogenic
FLNC
(R1241H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GConflicting classifications of pathogenicity
FLNC
(R1267W)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+5 more
GConflicting classifications of pathogenicity
FLNC
(S1296L)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+5 more
GConflicting classifications of pathogenicity
FLNC
(G1297E)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC
(A1298V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 5
+5 more
GBenign/Likely benign
FLNC
(A1334T)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+3 more
GUncertain significance
FLNC
(R1352H)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
FLNC
(P1358R)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GConflicting classifications of pathogenicity
FLNC
(R1434H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(G1456A)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
FLNC
(E1492K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+4 more
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 5
+6 more
GBenign/Likely benign
FLNC
Single nucleotide variant
(synonymous variant)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GLikely benign
FLNC
(R1567W)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+4 more
GConflicting classifications of pathogenicity
FLNC
(A1569T)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GConflicting classifications of pathogenicity
FLNC
(T1597M)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
FLNC
(S1637R)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
FLNC
(G1674S)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+6 more
GConflicting classifications of pathogenicity
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+4 more
GLikely benign
FLNC
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
FLNC
(D1691N)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
FLNC
(E1710K)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
FLNC
(P1711L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
FLNC
(G1722A)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+4 more
GUncertain significance
FLNC
(P1739L)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC
(P1748S)
Single nucleotide variant
(missense variant +1 more)
Distal myopathy with posterior leg and anterior hand involvement
+3 more
GUncertain significance
FLNC
(R1758W)
Single nucleotide variant
(missense variant +1 more)
Distal myopathy with posterior leg and anterior hand involvement
+6 more
GConflicting classifications of pathogenicity
FLNC
(G1760S)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 5
+5 more
GConflicting classifications of pathogenicity
FLNC-AS1, FLNC
(V1793M +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
FLNC-AS1, FLNC
(M1804L +1 more)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(R1778W +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
FLNC, FLNC-AS1
(R1811Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(N1817del +1 more)
Microsatellite
(inframe_deletion)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GUncertain significance
FLNC, FLNC-AS1
(G1787S +1 more)
Single nucleotide variant
(missense variant)
Distal myopathy with posterior leg and anterior hand involvement
+4 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
(T1823M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Distal myopathy with posterior leg and anterior hand involvement
+3 more
GLikely benign
FLNC, FLNC-AS1
(R1931H +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 5
+4 more
GUncertain significance
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