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Items: 1 to 100 of 1578

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAM2, NDUFV3
+1159 more
Copy number gain
See cases
GPathogenic
PDE9A-AS1, PDXK
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066843, LOC130066844
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653343, LOC126653344
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GUncertain significance
LINC00315, LINC00316
+1160 more
Copy number gain
See cases
GPathogenic
ATP5PF, ATP5PO
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653350, LOC126653351
+1159 more
Copy number gain
See cases
GPathogenic
LINC00111, LINC00112
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
TSPEAR-AS1, TSPEAR-AS2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066578, LOC130066579
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066717, LOC130066718
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC125418051, LOC125418052
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
HSF2BP, HSPA13
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066756, LOC130066757
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
KRTAP12-3, KRTAP12-4
+1157 more
Copy number gain
See cases
GPathogenic
LOC107403153, LOC107548109
+1155 more
Copy number gain
See cases
GPathogenic
SON, SPATC1L
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066735, LOC130066736
+1156 more
Copy number loss
See cases
GPathogenic
RUNX1
Single nucleotide variant
not provided
GBenign
RUNX1
Deletion
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GLikely pathogenic
LOC130066604, LOC130066605
+23 more
Deletion
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GPathogenic
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GLikely benign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GLikely benign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GLikely benign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GLikely benign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Deletion
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Microsatellite
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Microsatellite
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GBenign
RUNX1
Duplication
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Duplication
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Duplication
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GLikely benign
RUNX1
Deletion
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
LINC01424, LINC01436
+643 more
Copy number loss
See cases
GPathogenic
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
GUncertain significance
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Deletion
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GBenign
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