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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPB41L3
(M730I +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(P734A +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(P1065T +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(G1047D +15 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(H637R +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(Q605R +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(I658V +15 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
EPB41L3
(R593C +15 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EPB41L3
(A601V +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(A589D +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(V623A +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(G628E +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(T561M +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(A548S +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(A537V +15 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
EPB41L3
(S534F +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(G549R +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(E859Q +15 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EPB41L3
(V566M +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(S501A +15 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
EPB41L3
(E494G +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(M518V +15 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(V519F +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(L493F +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(F521S +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(P473S +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(R473K +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(A472T +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EPB41L3
(E448A +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(T439A +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EPB41L3
(E429D +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(S428N +9 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(A698T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(P682L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(N680S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
EPB41L3
(A671V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(A653S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(P634L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(R628C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(I645M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(P644L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(N610T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(F608C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(D601G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
EPB41L3
(D559H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
EPB41L3
(T518I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(S510L +1 more)
Single nucleotide variant
(intron variant +1 more)
not specified
GUncertain significance
EPB41L3
(R407Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
EPB41L3
(S386L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(E373Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(K472R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(T375N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(R266S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(I349S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(T260A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(G107R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(Y203S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(E170Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(N160K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(T154M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(R129C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EPB41L3
(Q89E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(T63I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
(P36Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
EPB41L3
(E21K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EPB41L3
Copy number gain
not provided
GUncertain significance
Display optionsSort by LocationDownload
Format
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