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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEATR3
(P123L +2 more)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 1
GPathogenic
HEATR3
Single nucleotide variant
(splice donor variant)
Diamond-Blackfan anemia 1
GPathogenic
HEATR3
(C215Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
+1 more
GPathogenic
HEATR3
(G353E +2 more)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 21
+1 more
GPathogenic/Likely pathogenic
HEATR3
(C134R +1 more)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia 21
+1 more
GPathogenic
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