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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DMP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMP1
(R272H +1 more)
Single nucleotide variant
(missense variant)
DMP1-related condition
+2 more
GConflicting classifications of pathogenicity
DMP1
(L282I +1 more)
Single nucleotide variant
(missense variant)
Hypophosphatemic rickets, autosomal recessive, 1
+1 more
GBenign/Likely benign
TMA16, CXCL1
+537 more
Copy number gain
not provided
GPathogenic
ABCG2, DMP1
+7 more
Copy number loss
not provided
GPathogenic
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