U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNE2
Duplication
(intron variant)
not provided
+1 more
GBenign
SYNE2
(I1187L)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+3 more
GBenign
SYNE2
(R1393Q)
Single nucleotide variant
(missense variant)
SYNE2-related disorder
+3 more
GConflicting classifications of pathogenicity
SYNE2
(Y1637C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SYNE2
(Y1638H)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
SYNE2
(A2347E)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+3 more
GBenign
SYNE2
(S2359G)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
SYNE2
(E2388K)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+2 more
GBenign/Likely benign
SYNE2
(I2564V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
SYNE2
(E3026D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
SYNE2
(K3523Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
SYNE2
(R4041H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SYNE2
(G4191D)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SYNE2
(I4209T)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+1 more
GBenign
SYNE2
(P4225S)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
SYNE2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
SYNE2
(N4418K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
SYNE2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SYNE2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
SYNE2
(P4912A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SYNE2
(K4931R)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+3 more
GBenign/Likely benign
SYNE2
(V5265A)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
GBenign
SYNE2
(A5393V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SYNE2
(D5547N)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+1 more
GBenign
SYNE2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SYNE2
(L5854P)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SYNE2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+3 more
GBenign/Likely benign
SYNE2
(T6211M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SYNE2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
SYNE2
(I6547V +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+1 more
GBenign
SYNE2
(Q6655L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SYNE2
(A6671T +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+2 more
GBenign/Likely benign
SYNE2
(R6706Q +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+1 more
GBenign/Likely benign
SYNE2
(R6720W +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+2 more
GBenign/Likely benign
SYNE2
(D6804N +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
+2 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination