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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063246, LOC130063247
+810 more
Copy number gain
See cases
GPathogenic
ARHGEF18, ARHGEF18-AS1
+75 more
Copy number gain
See cases
GUncertain significance
RETN
Single nucleotide variant
(5 prime UTR variant +1 more)
RETN-related condition
GLikely benign
RETN
(A43T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RETN
Single nucleotide variant
(3 prime UTR variant)
Diabetes mellitus type 2, susceptibility to
+1 more
Grisk factor
ARHGEF18, C3
+51 more
Deletion
Mucolipidosis type IV
GPathogenic
ADAMTS10, ANGPTL4
+35 more
Duplication
Mucolipidosis type IV
GUncertain significance
CCL25, MCOLN1
+24 more
Duplication
Familial hemophagocytic lymphohistiocytosis 5
GUncertain significance
ANGPTL4, CAMSAP3
+30 more
Copy number gain
not provided
GUncertain significance
ACER1, ACSBG2
+165 more
Copy number gain
not provided
GPathogenic
A1BG, ABCA7
+1364 more
Copy number gain
See cases
GPathogenic
LILRA4, LILRA5
+1364 more
Copy number gain
See cases
GPathogenic
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