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Links from OMIM

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABL1
(Y253H +1 more)
Single nucleotide variant
(missense variant)
Lymphoblastic leukemia, acute, with lymphomatous features
+2 more
GPathogenic/Likely pathogenic
ABL1
(E255K +1 more)
Single nucleotide variant
(missense variant)
Chronic myelogenous leukemia, BCR-ABL1 positive
+1 more
GPathogenic/Likely pathogenic
ABL1
(E255V +1 more)
Single nucleotide variant
(missense variant)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib
GPathogenic
NBN
(K137fs +1 more)
Deletion
(frameshift variant)
Microcephaly
+6 more
GPathogenic
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