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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP21
(I506T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 7, autosomal
GUncertain significance
MMP21
(R458*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
MMP21
(K81fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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