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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGA7, LOC126861535
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ITGA7, LOC126861535
(M623L +12 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to integrin alpha-7 deficiency
+2 more
GConflicting classifications of pathogenicity