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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC6
(G1475E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
+3 more
GPathogenic/Likely pathogenic
ABCC6
(R1141* +1 more)
Single nucleotide variant
(nonsense)
ABCC6-related disorder
+7 more
GPathogenic
ABCC6
(R1064W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
ABCC6
(R473fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
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