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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTUD5
(L260I +2 more)
Single nucleotide variant
(missense variant)
Abnormal cerebral cortex morphology
+1 more
GUncertain significance
COL4A1
Single nucleotide variant
(splice acceptor variant)
Brain small vessel disease 1 with or without ocular anomalies
+4 more
GPathogenic/Likely pathogenic
BORCS5
Single nucleotide variant
(splice acceptor variant)
Abnormal cerebral cortex morphology
+5 more
GLikely pathogenic
ATP2B3
(K1198N)
Single nucleotide variant
(missense variant +1 more)
X-linked progressive cerebellar ataxia
GLikely pathogenic
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