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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126859837, SYNE1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC126859837, SYNE1
(A5655T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
SYNE1, LOC126859837
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
(T5725N +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GUncertain significance
LOC126859837, SYNE1
(Q5652* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LOC126859837, SYNE1
(R5650Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126859837, SYNE1
(R5714W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC126859837, SYNE1
(P5628S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126859837, SYNE1
(I5627V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126859837, SYNE1
(R5697W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126859837, SYNE1
(L5620F +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126859837, SYNE1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
(R5601Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126859837, SYNE1
(R5591C +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 3, myogenic type
+5 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
(R5662S +1 more)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 3, myogenic type
+4 more
GLikely benign
SYNE1, LOC126859837
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
(M5563T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
(D5633G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126859837, SYNE1
Duplication
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
(I5549S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126859837, SYNE1
(R5546Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
LOC126859837, SYNE1
(R5540W +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
(E5608fs +1 more)
Duplication
(frameshift variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
LOC126859837, SYNE1
(Q5534K +1 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+2 more
GUncertain significance
LOC126859837, SYNE1
(Q5604P +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126859837, SYNE1
(E5511V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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