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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CREBBP
(R1868Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GPathogenic/Likely pathogenic
COL5A2
(M614I)
Single nucleotide variant
(missense variant)
High palate
+9 more
GUncertain significance