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Items: 1 to 100 of 1627

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCA5L, LINC00111
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1160 more
Copy number gain
See cases
GPathogenic
KRTAP8-1, LCA5L
+1160 more
Copy number gain
See cases
GPathogenic
RNA5-8SN1, RNA5-8SN2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066804, LOC130066805
+1160 more
Copy number gain
See cases
GUncertain significance
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
SCAF4, SETD4
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653353, LOC126653354
+1159 more
Copy number gain
See cases
GPathogenic
LOC129388418, LOC129391214
+1160 more
Copy number gain
See cases
GPathogenic
KCNJ6, KCNJ6-AS1
+643 more
Copy number loss
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LINC00515, LINC00649
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066731, LOC130066732
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
ETS2-AS1, EVA1C
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066726, LOC130066727
+1159 more
Copy number gain
See cases
GPathogenic
LOC128849172, LOC129388418
+884 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
SLC5A3, SLX9
+1159 more
Copy number gain
See cases
GPathogenic
LINC01425, LINC01426
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066861, LOC130066862
+1155 more
Copy number gain
See cases
GPathogenic
LOC130066468, LOC130066469
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
LOC112694754, LOC114004360
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066795, LOC130066796
+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 pathogenicFDA Recognized
database
LOC109648314, LOC109648316
+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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significanceFDA Recognized
database
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significanceFDA Recognized
database
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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 significanceFDA Recognized
database
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significanceFDA Recognized
database
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significanceFDA Recognized
database
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
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significanceFDA Recognized
database
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
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significanceFDA Recognized
database
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significanceFDA Recognized
database
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significanceFDA Recognized
database
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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
RUNX1
Duplication
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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
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
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Deletion
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Deletion
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RUNX1
Single nucleotide variant
(3 prime UTR variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Items: 1 to 100 of 1627

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