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Links from MedGen

Items: 1 to 100 of 21016

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
Copy number loss
Autosomal recessive limb-girdle muscular dystrophy type 2J
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(V7696fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC101927055, TTN
(V1307fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(A32338fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(Y25090C +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(E17874* +5 more)
Duplication
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(N22586fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC101927055, TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(F6557fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(S14106fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(H11708fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(M26487L +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806421, TTN
+1 more
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(K18286* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806422, TTN
+1 more
(P14307fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(T14724fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(A20876fs +5 more)
Microsatellite
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN-AS1, LOC126806422
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806427, TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806426, TTN
+1 more
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(K18145fs +5 more)
Microsatellite
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(W13428* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
(Y4532* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(L14021fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Deletion
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(P22733fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
(F12001fs)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(M4369fs +4 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
(T13648fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(K12542fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GPathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(R26689K +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(R3165fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(P13319fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(E6733* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN-AS1, TTN
(T17723fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(A2934fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806428, TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(E12339fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(P22725A +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(Q27148fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
(C9269fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(W7329* +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
(Q7163* +2 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(G27330* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(S3933* +4 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806431, TTN
(Q5519fs +2 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
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