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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNE1, SYNE1-AS1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SYNE1, SYNE1-AS1
(T2991M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SYNE1, SYNE1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SYNE1, SYNE1-AS1
(Q2964* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
SYNE1, SYNE1-AS1
(Q2963* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
SYNE1, SYNE1-AS1
(S2954L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1, SYNE1-AS1
(L2947V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
SYNE1-AS1, SYNE1
(C2943Y +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SYNE1-AS1, SYNE1
(F2938L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1, SYNE1-AS1
(D2929N +1 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
SYNE1, SYNE1-AS1
(R2934H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1-AS1, SYNE1
(R2927G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1, SYNE1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SYNE1, SYNE1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SYNE1-AS1, SYNE1
(S2914N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SYNE1, SYNE1-AS1
(A2913S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1, SYNE1-AS1
(N2910D +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SYNE1, SYNE1-AS1
(R2896H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
SYNE1, SYNE1-AS1
(I2894L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
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