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Links from MedGen

Items: 1 to 100 of 1257

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNJ1
(R107* +1 more)
Single nucleotide variant
(nonsense)
Early-onset Parkinson disease 20
GUncertain significance
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
(V81G +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 53
+1 more
GUncertain significance
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Duplication
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GBenign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
(Q405* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 53
+1 more
GPathogenic
SYNJ1
Microsatellite
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
(K3fs)
Deletion
(frameshift variant)
Early-onset Parkinson disease 20
+1 more
GPathogenic
SYNJ1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely pathogenic
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant +1 more)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Deletion
(intron variant)
Early-onset Parkinson disease 20
+1 more
GBenign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
(S897G +2 more)
Single nucleotide variant
(missense variant)
Early-onset Parkinson disease 20
+1 more
GUncertain significance
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
(A1186T +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GUncertain significance
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
(R494* +2 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 53
+1 more
GPathogenic
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
(A1334V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GUncertain significance
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
(A238V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 53
+1 more
GUncertain significance
SYNJ1
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely pathogenic
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Microsatellite
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant +1 more)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Duplication
(intron variant)
Developmental and epileptic encephalopathy, 53
+1 more
GLikely benign
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