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Links from MedGen

Items: 1 to 100 of 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPRIN1
(R297fs)
Deletion
(frameshift variant)
Juvenile myoclonic epilepsy
GPathogenic
HSD17B3, SLC35D2-HSD17B3
(M47V)
Single nucleotide variant
(missense variant)
Testosterone 17-beta-dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
CACNA1G
(W2020R +23 more)
Single nucleotide variant
(missense variant +2 more)
Juvenile myoclonic epilepsy
+1 more
Gnot provided
EFHC1
(P429L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Typical absence seizure
+1 more
GUncertain significance
EFHC1
Deletion
Absence seizure
+3 more
GUncertain significance
EFHC1
Deletion
Absence seizure
+3 more
GUncertain significance
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Insertion
(non-coding transcript variant +1 more)
Juvenile myoclonic epilepsy
Gassociation
GABRA1
(S299R)
Single nucleotide variant
(missense variant)
Juvenile myoclonic epilepsy
GLikely pathogenic
GABRA1
(D90N)
Single nucleotide variant
(missense variant)
Juvenile myoclonic epilepsy
GLikely pathogenic
EFHC1
(E181Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+1 more
GUncertain significance
EFHC1
(N55K +1 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
EFHC1
(R294C +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+2 more
GUncertain significance
CACNA1G
(S1105R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNB4, LOC129934925
Single nucleotide variant
(5 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Duplication
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Insertion
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GBenign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Duplication
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Indel
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Indel
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GConflicting classifications of pathogenicity
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Microsatellite
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GLikely benign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
(Y632C +1 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+2 more
GUncertain significance
EFHC1
(Y422F +1 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+2 more
GUncertain significance
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Juvenile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
EFHC1
(Y267C +1 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+2 more
GUncertain significance
EFHC1
Deletion
(inframe_indel +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
(D187N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
EFHC1
(R116G +1 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
(synonymous variant +1 more)
Juvenile myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
EFHC1
Microsatellite
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
EFHC1
Single nucleotide variant
Juvenile myoclonic epilepsy
GUncertain significance
EFHC1
Single nucleotide variant
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
GABRA1
Deletion
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GABRA1
Single nucleotide variant
(synonymous variant)
Juvenile myoclonic epilepsy
GUncertain significance
GABRA1
Microsatellite
(5 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
GABRA1
Deletion
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GABRA1
Duplication
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHRNA1
(R107C +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
+3 more
GConflicting classifications of pathogenicity
CACNB4, LOC129934925
Single nucleotide variant
(5 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(intron variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile myoclonic epilepsy
+1 more
GLikely benign
CACNB4
(D63H +3 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
(V113F +3 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+2 more
GUncertain significance
CACNB4
Single nucleotide variant
(intron variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
(C190R +2 more)
Single nucleotide variant
(synonymous variant +2 more)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Duplication
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Duplication
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
CACNB4
Deletion
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GLikely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
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