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Items: 1 to 100 of 413

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM8
(T4A)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(G5D)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(I6N)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(G9D)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(D12N)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(D12E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PRDM8
(D14N)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(Q20K)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(T23K)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(V29I)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GBenign
PRDM8
(I40V)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(F41V)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(P43S)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
+1 more
GUncertain significance
PRDM8
(T49N)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
+1 more
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(I55V)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(I55K)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(I58V)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(D64E)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(V68I)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(Y70C)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(D75V)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(A78T)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(E84K)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(M87V)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(M87T)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(R90Q)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
+1 more
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(E99G)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(G110R)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(G110A)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
+2 more
GUncertain significance
LOC126807094, PRDM8
(Q111E)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(E125K)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(L126F)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(T135I)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(L138F)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(P142S)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(S143F)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(N147fs)
Deletion
(frameshift variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
+1 more
GBenign/Likely benign
LOC126807094, PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(R163H)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(F168L)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(P169L)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(A172T)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(C178R)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(R181S)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8, LOC126807094
(S184R)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC126807094, PRDM8
(D186H)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(I187T)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(G194D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PRDM8
(V197L)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(G198D)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Microsatellite
(inframe_insertion)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(G204D)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(G207D)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(G208S)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Microsatellite
(inframe_insertion)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(Q212H)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(Q216L)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(Q217E)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(Q217K)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(P220S)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(F227I)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
+1 more
GUncertain significance
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