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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRAF3IP1
(G51D)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 9
GUncertain significance
TRAF3IP1
(G355E)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 9
+2 more
GUncertain significance
TRAF3IP1
(R404W +1 more)
Single nucleotide variant
(missense variant)
Senior-Loken syndrome 9
+1 more
GUncertain significance
TWIST2, ANKMY1
+43 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
SCLY, SEPTIN2
+48 more
Copy number loss
Chromosome 2q37 deletion syndrome
GLikely pathogenic
OR6B2, PASK
+56 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
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