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Links from MedGen

Items: 1 to 100 of 1536

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA2
(E409del +1 more)
Deletion
(inframe_indel +1 more)
Acute myeloid leukemia
GUncertain significance
GATA2
(H258R)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(P161L)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(E6Q)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(A19V)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(G100V)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(Y249H)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(P274L)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Deletion
(inframe_deletion)
Acute myeloid leukemia
GUncertain significance
CEBPA
Indel
(inframe_indel)
Acute myeloid leukemia
GUncertain significance
CEBPA
Insertion
(inframe_insertion)
Acute myeloid leukemia
GUncertain significance
CEBPA
(A146S +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(R151G +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(P132R +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(S200R +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
RUNX1
(A371G +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
RUNX1, RUNX1-AS1
(T101S +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
RUNX1
(N233fs +1 more)
Duplication
(frameshift variant)
Acute myeloid leukemia
GLikely pathogenic
RUNX1
(N26H)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
RUNX1
(S386A +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
RUNX1
(G340D +1 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Deletion
(inframe_deletion)
Acute myeloid leukemia
GUncertain significance
CEBPA
(R21fs +2 more)
Deletion
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
WT1
(R213L +11 more)
Single nucleotide variant
(missense variant +2 more)
Acute myeloid leukemia
STier I - Strong
CEBPA
(R358C +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(R135H +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GLikely benign
CEBPA
(G223A +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(K154E +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(A5V +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA, LOC130064183
(S38L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(A238F +3 more)
Indel
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(N318K +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(D69H +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(P184L +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GLikely benign
CEBPA
(G258A +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GLikely benign
CEBPA
(G13D +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
GATA2
(L170P)
Single nucleotide variant
(missense variant)
Deafness-lymphedema-leukemia syndrome
+2 more
GUncertain significance
CEBPA
(A170T +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(E334* +3 more)
Single nucleotide variant
(nonsense)
Acute myeloid leukemia
GUncertain significance
CEBPA
(C357Y +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GLikely benign
CEBPA
(P107T +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GLikely benign
CEBPA
(S56N +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(F194V +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GLikely benign
CEBPA
(A79V +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GLikely benign
CEBPA
(K276T +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(P121L +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(A37V +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(C343S +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(P233A +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GLikely benign
CEBPA
(E76D +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(E43D +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(G102S +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(P49R +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(A119G +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(H181P +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(E75D +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA, LOC130064183
(M15K +2 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(S96fs +2 more)
Duplication
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GPathogenic
CEBPA
(A16P +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(R292S +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(S163R +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(E295Q +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(Q291* +3 more)
Single nucleotide variant
(nonsense)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(Y167* +3 more)
Single nucleotide variant
(nonsense)
Acute myeloid leukemia
GUncertain significance
CEBPA
(P233R +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(G86D +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(S220G +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(A71V +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(G126R +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(G270S +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(E44D +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(K76N +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(Q193* +3 more)
Single nucleotide variant
(nonsense)
Acute myeloid leukemia
GUncertain significance
CEBPA
(H259Q +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(synonymous variant)
Acute myeloid leukemia
GLikely benign
CEBPA
(P190R +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(N164H +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(A124E +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(N162D +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
(D154N +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA
(E197Q +3 more)
Single nucleotide variant
(missense variant)
Acute myeloid leukemia
GUncertain significance
CEBPA, LOC130064183
(P49L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
CEBPA, LOC130064183
(S17del +2 more)
Microsatellite
(5 prime UTR variant +1 more)
Acute myeloid leukemia
GUncertain significance
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