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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
(K656N +7 more)
Single nucleotide variant
(missense variant)
Lymphoblastic leukemia, acute, with lymphomatous features
+5 more
GLikely pathogenic
NT5C2
(K359Q +5 more)
Single nucleotide variant
(missense variant)
Lymphoblastic leukemia, acute, with lymphomatous features
Gnot provided
JAK1, LOC126805749
(S646F +1 more)
Single nucleotide variant
(missense variant)
Lymphoblastic leukemia, acute, with lymphomatous features
GLikely pathogenic
IL7R
(S185C)
Single nucleotide variant
(missense variant)
Lymphoblastic leukemia, acute, with lymphomatous features
GLikely pathogenic
LOC126805749, JAK1
(V658F +1 more)
Single nucleotide variant
(missense variant)
Acquired polycythemia vera
+3 more
GLikely pathogenic
CRLF2
(F232C +1 more)
Single nucleotide variant
(missense variant +1 more)
Lymphoblastic leukemia, acute, with lymphomatous features
GPathogenic
INSL6, JAK2
(R683S +2 more)
Single nucleotide variant
(missense variant +1 more)
Lymphoblastic leukemia, acute, with lymphomatous features
GPathogenic
INSL6, JAK2
(R683S +2 more)
Single nucleotide variant
(missense variant +1 more)
Lymphoblastic leukemia, acute, with lymphomatous features
GPathogenic
INSL6, JAK2
(R683T +2 more)
Single nucleotide variant
(missense variant +1 more)
Lymphoblastic leukemia, acute, with lymphomatous features
GPathogenic
INSL6, JAK2
(R683G +2 more)
Single nucleotide variant
(missense variant +1 more)
Myeloproliferative disorder
+1 more
GPathogenic/Likely pathogenic
JAK1, LOC126805749
(A634D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
FGFR1
(K656E +7 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+7 more
GConflicting classifications of pathogenicity
JAK3
(P132T)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GBenign
JAK3
(V722I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ABL1
(Y253H +1 more)
Single nucleotide variant
(missense variant)
Lymphoblastic leukemia, acute, with lymphomatous features
+2 more
GPathogenic/Likely pathogenic
ABL1
(T315I +1 more)
Single nucleotide variant
(missense variant)
Chronic myelogenous leukemia, BCR-ABL1 positive
GLikely pathogenic; association
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