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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMGNT2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
POMGNT2
(R462Q)
Single nucleotide variant
(missense variant)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
+1 more
GUncertain significance
POMGNT2
(R462L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
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