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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANO5
(G230V)
Single nucleotide variant
(missense variant)
ANO5-related condition
+7 more
GPathogenic/Likely pathogenic
ANO5
(C356G +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
GPathogenic
ANO5
(C356R +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
GPathogenic
ANO5
(A432G +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
ANO5
(R758C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+3 more
GPathogenic/Likely pathogenic
ANO5
(Q770fs +1 more)
Microsatellite
(frameshift variant)
Gnathodiaphyseal dysplasia
+1 more
GPathogenic
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