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Items: 1 to 100 of 770

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRAPPC11
(D709E)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
LOC126807238, TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(P176L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(W986*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type R18
GPathogenic
TRAPPC11
(E423G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
LOC126807238, TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(F8L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
LOC126807238, TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely pathogenic
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(N242fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GPathogenic
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(F223fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GPathogenic
TRAPPC11
(Q458K)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(S1049P)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(N378fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GPathogenic
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(L222S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(V941E)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(Q606*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type R18
GPathogenic
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely pathogenic
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(R725fs)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GPathogenic
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GBenign
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(I1008T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(I997V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(A561S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(Y101H)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(Q508*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type R18
+1 more
GPathogenic/Likely pathogenic
TRAPPC11
(T70A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(N1011T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(T178I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(G708E)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(A441V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(M451I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TRAPPC11
(R484Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(N575S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(T989I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(T498R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
+1 more
GUncertain significance
TRAPPC11
(D1126G)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(I870T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(Y1081S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
LOC126807238, TRAPPC11
(D798G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(Q704H)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(I299V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(K361Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(K277R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
+1 more
GUncertain significance
TRAPPC11
(A959T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(A243V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(W110L)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
Duplication
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
Deletion
Autosomal recessive limb-girdle muscular dystrophy type R18
GPathogenic
TRAPPC11
(G849S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(R568*)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type R18
GPathogenic
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
+1 more
GLikely benign
TRAPPC11
(V857I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(R360Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
+1 more
GUncertain significance
TRAPPC11
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(T269S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(I292V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(H428Y)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
(R120G)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
LOC126807238, TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(Y1081C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
TRAPPC11
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GLikely benign
TRAPPC11
(A18V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type R18
GUncertain significance
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