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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARGE1
(A752G +4 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
(G542D +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(K419R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(P405L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(M505V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(Y400F +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(R371S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(V361del +4 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
LARGE1
(T631M +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LARGE1
(R400H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LARGE1
(D383N +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
(K377M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LARGE1
(G318R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(S302G +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(K552N +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(V296M +3 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
Single nucleotide variant
(synonymous variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GLikely benign
LARGE1
(L232I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(A478T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(R450H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(L430V +3 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
(N410S +1 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
(R187W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LARGE1
(C153G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(Q314L +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+2 more
GUncertain significance
LARGE1
(R286H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LARGE1
(V266L +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+2 more
GUncertain significance
LARGE1
(A252V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(A252T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(T249N +1 more)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
(L21P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(E203K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(R195H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LARGE1
(T184M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LARGE1
(T184A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(V160I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(V154I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+2 more
GUncertain significance
LARGE1
(A149S)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
(I142V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(V131I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+3 more
GConflicting classifications of pathogenicity
LARGE1
(E112K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
(R95Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
LARGE1
(P91Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LARGE1
(Q87K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GConflicting classifications of pathogenicity
LARGE1
(E74K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
+2 more
GUncertain significance
LARGE1
(E71K)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
+4 more
GConflicting classifications of pathogenicity
LARGE1
(R60W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LARGE1
(T55K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(V40L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LARGE1
(V40L)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy type B6
+1 more
GUncertain significance
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