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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESR1, SYNE1
(T8791K +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+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
ESR1, SYNE1
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)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+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)
not specified
+3 more
GBenign/Likely benign
ESR1, SYNE1
(R8698Q +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
ESR1, SYNE1
(R8690C +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Autosomal recessive ataxia, Beauce type
+3 more
GConflicting classifications of pathogenicity
ESR1, SYNE1
(G8689S +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+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)
not provided
+2 more
GUncertain significance
ESR1, SYNE1
(D8677N +3 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
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