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Links from MedGen

Items: 1 to 100 of 366

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
(E371K)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 2
GUncertain significance
GLRB
Insertion
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
(S150fs)
Deletion
(frameshift variant)
Hyperekplexia 2
GPathogenic
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
(K31fs)
Deletion
(frameshift variant)
Hyperekplexia 2
GPathogenic
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
(K235fs)
Deletion
(frameshift variant)
Hyperekplexia 2
GPathogenic
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
Duplication
Hyperekplexia 2
GUncertain significance
GLRB
Duplication
Hyperekplexia 2
GUncertain significance
GLRB
Duplication
Hyperekplexia 2
GUncertain significance
GLRB
(R472*)
Single nucleotide variant
(nonsense +1 more)
Hyperekplexia 2
+1 more
GConflicting classifications of pathogenicity
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Duplication
(intron variant)
Hyperekplexia 2
GBenign
GLRB
(M175L)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(Y240H)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
(Y325C)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 2
GUncertain significance
GLRB
(F3Y)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(K234R)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GUncertain significance
GLRB
(T207I)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(A294V)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(I334M)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
(W493S)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 2
GUncertain significance
GLRB
(R115M)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
+1 more
GUncertain significance
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
(D81V)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(A151T)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
(I161N)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(C137R)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(W139R)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
(Q95R)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(R72K)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(L262V)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(K440Q)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 2
GUncertain significance
GLRB
(G77R)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(Y206*)
Single nucleotide variant
(nonsense)
Hyperekplexia 2
GPathogenic
GLRB
(D219N)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
(F339L)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
(T207A)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GUncertain significance
GLRB
(S311P)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 2
GUncertain significance
GLRB
(Y347D)
Single nucleotide variant
(missense variant +1 more)
Hyperekplexia 2
GUncertain significance
GLRB
(T97I)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(splice acceptor variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(synonymous variant +1 more)
Hyperekplexia 2
GLikely benign
GLRB
(P184L)
Single nucleotide variant
(missense variant)
Hyperekplexia 2
GUncertain significance
GLRB
Deletion
(inframe_deletion)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
GLRB
(V282del)
Microsatellite
(inframe_deletion)
Hyperekplexia 2
GUncertain significance
GLRB
Single nucleotide variant
(synonymous variant)
Hyperekplexia 2
GLikely benign
GLRB
Single nucleotide variant
(intron variant)
Hyperekplexia 2
GLikely benign
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