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Links from MedGen

Items: 1 to 100 of 4177

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNC
(P611fs)
Duplication
(frameshift variant)
Dilated Cardiomyopathy, Dominant
+3 more
GPathogenic
FLNC
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely benign
FLNC
(P962S)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC
(F1730fs)
Deletion
(frameshift variant)
Dilated Cardiomyopathy, Dominant
+3 more
GPathogenic
FLNC
(P417Q)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC
(D416E)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC
(V1487fs)
Deletion
(frameshift variant)
Dilated Cardiomyopathy, Dominant
+3 more
GPathogenic
FLNC
(V586L)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely benign
FLNC, FLNC-AS1
(M2566V +1 more)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely benign
FLNC
(S101fs)
Microsatellite
(frameshift variant)
Dilated Cardiomyopathy, Dominant
+3 more
GPathogenic
FLNC
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely benign
FLNC
(I1387L)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC, FLNC-AS1
(G1820D +1 more)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(splice donor variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely pathogenic
FLNC
Single nucleotide variant
(synonymous variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely benign
FLNC
(Y141fs)
Deletion
(frameshift variant)
Dilated Cardiomyopathy, Dominant
+3 more
GPathogenic
FLNC
(V547A)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC
(R269fs)
Deletion
(frameshift variant)
Dilated Cardiomyopathy, Dominant
+3 more
GPathogenic
FLNC
(G938A)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC, FLNC-AS1
(G2070D +1 more)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+3 more
GUncertain significance
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely benign
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Dilated Cardiomyopathy, Dominant
+3 more
GLikely benign
FLNC, FLNC-AS1
(Q2392fs +1 more)
Insertion
(frameshift variant)
Dilated Cardiomyopathy, Dominant
+3 more
GPathogenic
FLNC, FLNC-AS1
(G2313S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(F92fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
(W2131C +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(G700E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
(K2543N +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(Y1036S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
(E2192K +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
(A208P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(L604M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
(E365*)
Duplication
(nonsense)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
(K502fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
(E2334fs +1 more)
Insertion
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
(V980fs)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(L1603P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
(E1897G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
(P1427S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
(D2703fs +1 more)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
(C805W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(T136A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
(N99K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
(T2139S +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
(G2485fs +1 more)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
(M2636I +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
(P287L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(R1434P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(G912D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
(G2441V +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(I969M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(E1332D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(I549T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(Q936fs)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC, FLNC-AS1
(H1828Y +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(H1504fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC, FLNC-AS1
(G2054* +1 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic
FLNC
Duplication
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GBenign
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
(A2533T +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(D124A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
Deletion
(nonsense)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
(K1254T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
(Q2133* +1 more)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
Deletion
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC, FLNC-AS1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC
(Y1036*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(Y705fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 26
+3 more
GPathogenic
FLNC, FLNC-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 26
+3 more
GLikely benign
FLNC, FLNC-AS1
(N2660I +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC, FLNC-AS1
(V2447G +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
FLNC
(V1533D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+3 more
GUncertain significance
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