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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEC23B
(R14W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SEC23B
(P25H)
Single nucleotide variant
(missense variant)
Cowden syndrome 7
+2 more
GConflicting classifications of pathogenicity
SEC23B
(E109K)
Single nucleotide variant
(missense variant)
SEC23B-related condition
+3 more
GPathogenic
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
SEC23B
(E248K +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SEC23B
(Q258R +1 more)
Single nucleotide variant
(missense variant)
SEC23B-related condition
+3 more
GConflicting classifications of pathogenicity
SEC23B
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type II
+3 more
GBenign
SEC23B
(V426I +1 more)
Single nucleotide variant
(missense variant)
Cowden syndrome 7
+3 more
GBenign/Likely benign
SEC23B
(P433L +1 more)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type II
+3 more
GBenign
SEC23B
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type II
+3 more
GBenign
SEC23B
(H489Q +1 more)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type II
+3 more
GBenign
SEC23B
(R497C +1 more)
Single nucleotide variant
(missense variant)
Cowden syndrome 7
+2 more
GPathogenic
SEC23B
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type II
+4 more
GBenign
SEC23B
(A524V +1 more)
Single nucleotide variant
(missense variant)
Congenital dyserythropoietic anemia, type II
+2 more
GPathogenic/Likely pathogenic
SEC23B
(R550* +1 more)
Single nucleotide variant
(nonsense)
Congenital dyserythropoietic anemia, type II
+2 more
GPathogenic
SEC23B
Single nucleotide variant
(intron variant)
Congenital dyserythropoietic anemia, type II
+3 more
GBenign
SEC23B
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type II
+3 more
GBenign
SEC23B
Single nucleotide variant
(synonymous variant)
Congenital dyserythropoietic anemia, type II
+3 more
GBenign/Likely benign
SEC23B
Deletion
(3 prime UTR variant)
not specified
+1 more
GBenign/Likely benign
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