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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HDAC8
(V195G +1 more)
Single nucleotide variant
(missense variant +2 more)
Polycystic kidney disease
+5 more
GLikely pathogenic
GJA1
(K162N)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect and common atrioventricular junction
+7 more
GLikely pathogenic