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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NHLRC1
(I198N)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NHLRC1
(G158fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
NHLRC1
(D146N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NHLRC1
(P69A)
Single nucleotide variant
(missense variant)
NHLRC1-related condition
+2 more
GPathogenic
NHLRC1
(C26S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
EPM2A
(R241* +3 more)
Single nucleotide variant
(nonsense +2 more)
Progressive myoclonic epilepsy
+3 more
GPathogenic
EPM2A
(R171H +2 more)
Single nucleotide variant
(missense variant +1 more)
Progressive myoclonic epilepsy
GLikely pathogenic
EPM2A, EPM2A-DT
+1 more
(Q55K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GBenign
EPM2A, EPM2A-DT
+1 more
(A46P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
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