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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMT1
(I51F)
Single nucleotide variant
(missense variant +3 more)
not provided
+4 more
GUncertain significance
POMT1
Insertion
(splice donor variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
+3 more
GPathogenic/Likely pathogenic
POMT1
(Q303* +9 more)
Single nucleotide variant
(nonsense +2 more)
Abnormality of the musculature
+5 more
GPathogenic
POMT1
(Q385* +9 more)
Single nucleotide variant
(nonsense +2 more)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
+5 more
GPathogenic
POMT2
(R99C)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+5 more
GConflicting classifications of pathogenicity
FKRP
(L276I)
Single nucleotide variant
(missense variant)
Myopathy
+20 more
GPathogenic/Likely pathogenic
FKRP
(V300M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+8 more
GConflicting classifications of pathogenicity
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