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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NKIRAS1, RPL15
(K153T)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 12
GPathogenic
NKIRAS1, RPL15
(L10P)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 12
GPathogenic
NKIRAS1, RPL15
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Diamond-Blackfan anemia 12
GPathogenic
NKIRAS1, RPL15
(Y81*)
Duplication
(nonsense +1 more)
RPL15-related disorder
GPathogenic
NKIRAS1, RPL15
(R44fs)
Deletion
(frameshift variant +1 more)
Diamond-Blackfan anemia 12
GPathogenic
NKIRAS1, RPL15
(K153R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NKIRAS1, RPL15
(K179R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NKIRAS1, RPL15
(R105L)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 12
GLikely pathogenic
NKIRAS1, RPL15
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 12
+1 more
GConflicting classifications of pathogenicity
NKIRAS1, RPL15
Deletion
(intron variant +2 more)
Diamond-Blackfan anemia 12
GPathogenic
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