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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
ADAMTS3, AFM
+166 more
Copy number gain
See cases
GPathogenic
ODAPH
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC123477765, ODAPH
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
ODAPH
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAPH
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAPH
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAPH
(L45F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
ODAPH
(R109H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
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