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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT6B
(H126Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(K912fs +7 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic
KAT6B
(S1047fs +7 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic
KAT6B
(R1797* +7 more)
Single nucleotide variant
(nonsense)
Genitopatellar syndrome
GPathogenic
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