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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP9, SLC12A5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
MMP9, SLC12A5-AS1
(R574P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign
MMP9, SLC12A5-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
MMP9, SLC12A5-AS1
+1 more
(R631S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Metaphyseal anadysplasia 2
+1 more
GConflicting classifications of pathogenicity
LOC130065978, MMP9
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
MMP9, SLC12A5-AS1
(R668G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
MMP9, SLC12A5-AS1
(R668Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MMP9, SLC12A5-AS1
+1 more
(D692H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC100128028, MMP9
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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