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Items: 1 to 100 of 1115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+935 more
Copy number gain
See cases
GPathogenic
LOC130000086, LOC130000087
+932 more
Copy number gain
See cases
GPathogenic
LOC121331299, LOC121331300
+868 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+927 more
Copy number gain
See cases
GPathogenic
LOC130000305, LOC130000306
+927 more
Copy number gain
See cases
GPathogenic
LOC130000069, LOC130000070
+868 more
Copy number gain
See cases
GPathogenic
LOC130000275, LOC130000276
+927 more
Copy number gain
See cases
GPathogenic
LOC101929258, LOC101929470
+920 more
Copy number gain
See cases
GPathogenic
LOC129999948, LOC129999949
+855 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+920 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+920 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+898 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+591 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+417 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+276 more
Copy number loss
See cases
GPathogenic
LOC124174256, LOC124174257
+541 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+180 more
Copy number gain
See cases
GPathogenic
ADAM2, ANK1
+184 more
Copy number gain
See cases
GPathogenic
ANK1, AP3M2
+122 more
Copy number gain
See cases
GPathogenic
LOC130000302, LOC130000303
+121 more
Copy number gain
See cases
GPathogenic
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GBenign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GBenign/Likely benign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GBenign/Likely benign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GConflicting classifications of pathogenicity
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
GLikely benign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GBenign/Likely benign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GConflicting classifications of pathogenicity
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GConflicting classifications of pathogenicity
ANK1
Microsatellite
(3 prime UTR variant)
Spherocytosis, Dominant
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GConflicting classifications of pathogenicity
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GConflicting classifications of pathogenicity
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GConflicting classifications of pathogenicity
ANK1
Duplication
(3 prime UTR variant)
Spherocytosis, Dominant
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Microsatellite
(3 prime UTR variant)
Spherocytosis, Dominant
GUncertain significance
ANK1
Microsatellite
(3 prime UTR variant)
Spherocytosis, Dominant
GUncertain significance
ANK1
Microsatellite
(3 prime UTR variant)
Spherocytosis, Dominant
GLikely benign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Duplication
(3 prime UTR variant)
Spherocytosis, Dominant
GLikely benign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Spherocytosis
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GConflicting classifications of pathogenicity
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
GUncertain significance
ANK1
Deletion
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK1
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK1
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK1
Duplication
(intron variant)
Hereditary spherocytosis type 1
GBenign
ANK1
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK1
Single nucleotide variant
(intron variant)
not provided
GBenign
ANK1
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spherocytosis type 1
GUncertain significance
ANK1
Single nucleotide variant
(3 prime UTR variant +1 more)
ANK1-related disorder
GLikely benign
ANK1
Single nucleotide variant
(3 prime UTR variant +1 more)
Spherocytosis
+1 more
GConflicting classifications of pathogenicity
ANK1
Single nucleotide variant
(intron variant +1 more)
Spherocytosis
+1 more
GUncertain significance
ANK1
(G153E +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spherocytosis type 1
GUncertain significance
ANK1
(G1878R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ANK1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spherocytosis type 1
+1 more
GUncertain significance
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