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Links from MedGen

Items: 1 to 100 of 674

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A5
Single nucleotide variant
(splice donor variant)
Hyperekplexia 3
GLikely pathogenic
SLC6A5
(V262L +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
(L459fs +1 more)
Insertion
(frameshift variant)
Hyperekplexia 3
GLikely pathogenic
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
SLC6A5-related disorder
+1 more
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
(P561fs +1 more)
Microsatellite
(frameshift variant)
Hyperekplexia 3
GPathogenic
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Deletion
(intron variant)
Hyperekplexia 3
GBenign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
(S490F +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
(H765N +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
+1 more
GConflicting classifications of pathogenicity
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
(I231V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(splice acceptor variant)
Hyperekplexia 3
GLikely pathogenic
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(splice donor variant)
Hyperekplexia 3
GLikely pathogenic
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
(K11*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GPathogenic
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Insertion
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Duplication
(intron variant)
Hyperekplexia 3
GBenign
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
(C680Y +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
(K325fs +1 more)
Deletion
(frameshift variant)
Hyperekplexia 3
GLikely pathogenic
SLC6A5
Deletion
(splice acceptor variant +1 more)
Hyperekplexia 3
GLikely pathogenic
SLC6A5
(Y422S +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
(N288S +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
Deletion
Hyperekplexia 3
GPathogenic
SLC6A5
Duplication
Hyperekplexia 3
GUncertain significance
SLC6A5
Duplication
Hyperekplexia 3
GLikely pathogenic
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
(T183I +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
(L415I +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
(Q223R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SLC6A5
(T400I +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
(V198I +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
(S106L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GUncertain significance
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
(H367Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC6A5
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperekplexia 3
GLikely benign
SLC6A5
(I615T +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 3
GUncertain significance
SLC6A5
Single nucleotide variant
(intron variant)
Hyperekplexia 3
GLikely benign
SLC6A5
Single nucleotide variant
(synonymous variant)
Hyperekplexia 3
GLikely benign
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