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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPB41
(E12K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EPB41
(G58R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
EPB41
(E183Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
EPB41
(Q190fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
EPB41
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic/Likely pathogenic
EPB41
(C212Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPB41
(V243I +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EPB41
(T248I +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
EPB41
(Q125H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPB41
(P148L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPB41
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
EPB41
(R235H +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
EPB41
(A293V +2 more)
Single nucleotide variant
(missense variant)
Elliptocytosis 1
+2 more
GUncertain significance
EPB41
(R299* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
EPB41
(R344* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
EPB41
(T372fs +4 more)
Duplication
(frameshift variant)
not provided
+1 more
GLikely pathogenic
EPB41
(T401A +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPB41
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
EPB41
(H447Q +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EPB41
(I494V +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EPB41
(T673I +7 more)
Single nucleotide variant
(missense variant)
Elliptocytosis 1
+1 more
GUncertain significance
EPB41
(E537G +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EPB41
(R539C +7 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EPB41
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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