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Items: 1 to 100 of 1170

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESR1, SYNE1
(T8791K +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
ESR1, SYNE1
(T8743M +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
ESR1, SYNE1
(Y8742* +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
SYNE1, ESR1
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GConflicting classifications of pathogenicity
ESR1, SYNE1
(R8734Q +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
ESR1, SYNE1
(S8729C +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
ESR1, SYNE1
(M8719I +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
ESR1, SYNE1
Single nucleotide variant
(3 prime UTR variant +2 more)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+3 more
GBenign/Likely benign
SYNE1, ESR1
(R8698Q +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
ESR1, SYNE1
(R8690C +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ESR1, SYNE1
(G8689S +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive ataxia, Beauce type
+2 more
GBenign
ESR1, SYNE1
(S8688A +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
ESR1, SYNE1
(R8735L +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
ESR1, SYNE1
(D8677N +3 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive ataxia, Beauce type
+2 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SYNE1
(T8650M +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
(G8634R +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1
(V8614L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
Autosomal recessive ataxia, Beauce type
+2 more
GConflicting classifications of pathogenicity
SYNE1
(L8608P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
(L8656M +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
(R8651C +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
(L8571P +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SYNE1
(M8548V +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
(D8536A +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GConflicting classifications of pathogenicity
SYNE1
(I8521V +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SYNE1
(L8566M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SYNE1
(Q8498R +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SYNE1
(R8494W +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SYNE1
(V8486A +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
Autosomal recessive ataxia, Beauce type
+2 more
GConflicting classifications of pathogenicity
SYNE1
(R8475H +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SYNE1
(R8470W +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SYNE1
(R8447H +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+3 more
GUncertain significance
SYNE1
(E8439A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
(K8435E +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
(R8468H +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1
(E8413K +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
SYNE1
(D8400N +3 more)
Single nucleotide variant
(missense variant)
Spastic ataxia
+3 more
GConflicting classifications of pathogenicity
SYNE1
(M8435I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
(R8372Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SYNE1
(E8363K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
(S8361G +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
(L8353F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
Arthrogryposis multiplex congenita 3, myogenic type
+3 more
GBenign/Likely benign
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(splice donor variant)
SYNE1-Related Disorders
+1 more
GConflicting classifications of pathogenicity
SYNE1
(T8320A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
(P8316L +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+4 more
GBenign/Likely benign
SYNE1
(R8309C +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1
(Q8303E +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
(I8349T +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1
(L8331V +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SYNE1
(S8281G +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(intron variant)
Autosomal recessive ataxia, Beauce type
+2 more
GConflicting classifications of pathogenicity
SYNE1
(G8278R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SYNE1
(L8268F +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SYNE1
(M8257I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SYNE1
(G8252A +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+3 more
GBenign
SYNE1
(R8319Q +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
SYNE1
(L8247F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SYNE1
(D8294G +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(synonymous variant)
Autosomal recessive ataxia, Beauce type
+2 more
GConflicting classifications of pathogenicity
SYNE1
(Y8218C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
(D8288N +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SYNE1
(A8205G +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
SYNE1
(R8198L +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1
(E8197K +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SYNE1
(A8191T +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1
(L8261V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SYNE1
(R8243H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(synonymous variant)
SYNE1-related condition
+3 more
GConflicting classifications of pathogenicity
SYNE1
(H8170Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SYNE1
(H8168Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SYNE1
(D8147N +3 more)
Single nucleotide variant
(missense variant)
SYNE1-related condition
+3 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SYNE1
Single nucleotide variant
(intron variant)
SYNE1-related condition
+4 more
GConflicting classifications of pathogenicity
SYNE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SYNE1
(R8141H +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SYNE1
(R8141C +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
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