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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYT1
(F347Y +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GUncertain significance
SYT1
(M171V +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GUncertain significance
SYT1
(V181A +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GLikely pathogenic
SYT1
(G304D +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GLikely pathogenic
SYT1
Duplication
(inframe_insertion)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GLikely pathogenic
SYT1
(V356A +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GUncertain significance
SYT1
(S306F +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GPathogenic/Likely pathogenic
SYT1
Single nucleotide variant
(intron variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GBenign
SYT1
Single nucleotide variant
(synonymous variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GBenign
SYT1
(V345A +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GUncertain significance
SYT1
(D369N +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GUncertain significance
SYT1
(D307N +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GLikely pathogenic
SYT1
(R397* +1 more)
Single nucleotide variant
(nonsense)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GPathogenic
SYT1
(R279H +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
+1 more
GConflicting classifications of pathogenicity
SYT1
Duplication
(inframe_insertion)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
GLikely pathogenic
SYT1
(N371K +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
+1 more
GPathogenic/Likely pathogenic
SYT1
(D366E +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
+1 more
GPathogenic/Likely pathogenic
SYT1
(D304G +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
+1 more
GPathogenic/Likely pathogenic
SYT1
(M303K +1 more)
Single nucleotide variant
(missense variant)
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
+1 more
GPathogenic/Likely pathogenic
SYT1
(I365T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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