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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELP1
(M1183V +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+2 more
GUncertain significance
ELP1
(Q1166H +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
GUncertain significance
ELP1
(K908E +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+1 more
GUncertain significance
ELP1
(K1031E +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
GUncertain significance
ELP1
(A1087T +2 more)
Single nucleotide variant
(missense variant)
Familial dysautonomia
+3 more
GUncertain significance
ELP1
(T1051A +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+1 more
GUncertain significance
ELP1
(V1046A +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+1 more
GUncertain significance
ELP1
(Q635R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ELP1
(R942Q +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+3 more
GConflicting classifications of pathogenicity
ELP1
(R593* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
ELP1
(T935S +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ELP1
(E511K +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+2 more
GUncertain significance
ELP1
(H484P +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ELP1
(Y448C +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+2 more
GUncertain significance
ELP1
Single nucleotide variant
(intron variant)
Medulloblastoma
+3 more
GPathogenic
ELP1
(Q361R +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
GUncertain significance
ELP1
(A289V +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+3 more
GUncertain significance
ELP1
(I209V +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
GUncertain significance
ELP1
(H180Q +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
GUncertain significance
ELP1
(Y137H +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
GUncertain significance
ELP1
(D455G +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+2 more
GConflicting classifications of pathogenicity
ELP1
(T293N +2 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
GUncertain significance
ELP1
(T27M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ELP1
(R358Q +2 more)
Single nucleotide variant
(missense variant)
Familial dysautonomia
+3 more
GUncertain significance
ELP1
(P100fs +1 more)
Deletion
(frameshift variant +1 more)
not specified
+3 more
GPathogenic/Likely pathogenic
ELP1
(E174K +1 more)
Single nucleotide variant
(missense variant +1 more)
Medulloblastoma
+2 more
GUncertain significance
ELP1
(T14A +1 more)
Single nucleotide variant
(missense variant +1 more)
Medulloblastoma
+1 more
GUncertain significance
ELP1
(E29K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Medulloblastoma
+1 more
GUncertain significance
ELP1
(K5R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Medulloblastoma
GUncertain significance
ELP1
(R2*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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