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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRPPA, CRPPA-AS1
(I406M +2 more)
Single nucleotide variant
(missense variant +1 more)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
+2 more
GUncertain significance
CRPPA
(G178R)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
CRPPA, LOC129998005
(A24P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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