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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRAF7
(R371Q)
Single nucleotide variant
(missense variant)
Cardiac, facial, and digital anomalies with developmental delay
GLikely pathogenic
TRAF7
(R655Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity