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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
GLikely pathogenic
POMT1
(P175T +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(N258S +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 3
+3 more
GPathogenic/Likely pathogenic
POMT1
(D606fs +10 more)
Duplication
(frameshift variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+11 more
GPathogenic
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