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Links from MedGen

Items: 1 to 100 of 500

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(P6S)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Deletion
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(M1fs)
Deletion
(frameshift variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(D294fs +1 more)
Duplication
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Deletion
(splice acceptor variant +1 more)
Eichsfeld type congenital muscular dystrophy
GLikely pathogenic
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(E483del +1 more)
Deletion
(inframe_deletion)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(P20L)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
SELENON
Single nucleotide variant
(synonymous variant +1 more)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(splice acceptor variant +1 more)
Eichsfeld type congenital muscular dystrophy
GLikely pathogenic
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(N467fs +1 more)
Duplication
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GLikely pathogenic
SELENON
(L356fs +1 more)
Deletion
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(F167fs +1 more)
Microsatellite
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GLikely pathogenic
SELENON
(E374* +1 more)
Single nucleotide variant
(nonsense)
Eichsfeld type congenital muscular dystrophy
GPathogenic/Likely pathogenic
SELENON
(E91D)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(L183P +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(P178L +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(V489M +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(Q238H +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(T336M +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(T67N)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Duplication
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(V48fs)
Deletion
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(M1fs)
Deletion
(frameshift variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(R51H)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(splice acceptor variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(E360fs +1 more)
Deletion
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(R26fs)
Duplication
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(H293Y +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(A274P +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(A32P)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(A159T +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(N126S)
Single nucleotide variant
(intron variant +1 more)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(L553V +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(T530I +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(L577P +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
+1 more
GUncertain significance
SELENON
(Q397* +1 more)
Single nucleotide variant
(nonsense)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
(N301S +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(R182C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(P424T +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(G10R)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(T336S +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(Q56P)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(F433V +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Single nucleotide variant
(synonymous variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
(N502Y +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(K516N +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
(T434S +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
GUncertain significance
SELENON
Deletion
(splice donor variant +1 more)
Eichsfeld type congenital muscular dystrophy
GPathogenic
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
GLikely benign
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