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Links from Gene

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELL3
(A185T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(E227Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(R212C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(A203P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(A134G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(L12V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(E6Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3, PDIA3
(R371C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ACTC1, ADAL
+200 more
Copy number gain
not specified
GPathogenic
CKMT1A, ELL3
+7 more
Copy number gain
not provided
GUncertain significance
ADAL, AFG2B
+103 more
Deletion
not provided
GPathogenic
ELL3
(R217C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(D214N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(D166V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(G62D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(H128Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(V45I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(R339Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ELL3
(D350N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(C40F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(K336N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(M116I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(S269R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(R265K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(C40G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(E39V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(G96E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELL3
(S170N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BLOC1S6, C15orf48
+61 more
Copy number loss
not specified
GPathogenic
ADAL, CATSPER2
+24 more
Copy number loss
not provided
GUncertain significance
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
TGM5, PDIA3
+22 more
Copy number gain
not provided
GUncertain significance
AP4E1, ARPP19
+76 more
Copy number loss
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAL, AFG2B
+107 more
Copy number loss
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
CKMT1A, CTDSPL2
+42 more
Copy number loss
See cases
GUncertain significance
ADAL, CATSPER2
+69 more
Copy number loss
See cases
GLikely pathogenic
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