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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLRA1
(G378S +2 more)
Single nucleotide variant
(missense variant)
GLRA1-related condition
+4 more
GBenign/Likely benign
GLRA1
Deletion
(nonsense)
Hereditary hyperekplexia
GPathogenic
GLRA1
(Y307S +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(Y307C +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+1 more
GPathogenic
GLRA1
(K304E +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GLRA1
(R299Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
+3 more
GPathogenic
GLRA1
(R299L +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
GLikely pathogenic
GLRA1
(S298T +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(Q294H +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(V288M +1 more)
Single nucleotide variant
(missense variant)
GLRA1-related condition
GUncertain significance
GLRA1
(P278T +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(I272N +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(W267C +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(S259R +1 more)
Single nucleotide variant
(missense variant)
Hyperekplexia 1
GPathogenic
GLRA1
(R246Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
GPathogenic
GLRA1, LOC123575602
Deletion
Hyperekplexia 1
GPathogenic
GLRA1
(Y230* +1 more)
Single nucleotide variant
(nonsense)
Hyperekplexia 1
GPathogenic
GLRA1
(R100H +1 more)
Single nucleotide variant
(missense variant)
Hereditary hyperekplexia
GLikely pathogenic
GPHN
(N10Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
Hyperekplexia 1
GPathogenic
Hyperekplexia 1
GPathogenic
Hyperekplexia 1
GPathogenic
GLRA1
Deletion
Hyperekplexia 1
GPathogenic
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