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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130056175, POMT2
(V234I)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+4 more
GConflicting classifications of pathogenicity
LOC130056175, POMT2
(W225fs)
Deletion
(frameshift variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+3 more
GPathogenic
LOC130056175, POMT2
(P224R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC130056175, POMT2
(S222C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130056175, POMT2
(F221Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130056175, POMT2
(P220L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
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