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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMT2
(L645F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMT2
(V635I)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
POMT2
(R473Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+3 more
GUncertain significance
POMT2
(F405fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
POMT2
(A217T)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
+3 more
GConflicting classifications of pathogenicity
POMT2
(G185R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POMT2
(W57G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMT2
(R50G)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
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