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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC9A6
(A449E +3 more)
Single nucleotide variant
(missense variant)
Astigmatism
+12 more
GUncertain significance
RNF182, SIRT5
+6 more
Copy number gain
Astigmatism
+12 more
GUncertain significance
ARHGAP11B, CHRFAM7A
+11 more
Copy number gain
Short attention span
+12 more
GPathogenic
NF1
(G663R)
Single nucleotide variant
(missense variant)
Neurofibromatosis, familial spinal
+6 more
GConflicting classifications of pathogenicity
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