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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862987, SEC23B
(V164L +1 more)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type II
+3 more
GBenign/Likely benign
LOC126862987, SEC23B
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type II
+3 more
GConflicting classifications of pathogenicity
LOC126862987, SEC23B
(R190Q +1 more)
Single nucleotide variant
(missense variant)
Cowden syndrome 7
+2 more
GUncertain significance
LOC126862987, SEC23B
(R217* +1 more)
Single nucleotide variant
(nonsense)
Cowden syndrome 7
+2 more
GPathogenic/Likely pathogenic
LOC126862987, SEC23B
Single nucleotide variant
(splice donor variant)
Congenital dyserythropoietic anemia, type II
+2 more
GPathogenic
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