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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6L2
(Q7*)
Single nucleotide variant
(nonsense +1 more)
Pancytopenia-developmental delay syndrome
+1 more
GPathogenic/Likely pathogenic
ERCC6L2
(E561fs)
Microsatellite
(frameshift variant +1 more)
Pancytopenia-developmental delay syndrome
GLikely pathogenic