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Links from MedGen

Items: 1 to 100 of 403

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
LOC126807094, PRDM8
(D186H)
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
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
LOC126807094, PRDM8
Single nucleotide variant
(synonymous 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
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
LOC129992745, 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
Duplication
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
LOC129992744, 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
(Q217E)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC129992744, PRDM8
(G332D)
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
(A589V)
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
LOC129992744, PRDM8
(G310V)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(A410D)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC129992745, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(G194D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PRDM8
(G481R)
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
(A597V)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(Q550P)
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
(Q296*)
Single nucleotide variant
(nonsense)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Duplication
(inframe_insertion)
Early-onset Lafora body disease
GUncertain significance
PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC129992745, PRDM8
(G489R)
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
LOC126807094, PRDM8
(P142S)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(L348M)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC129992745, PRDM8
(A493G)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC129992744, PRDM8
Single nucleotide variant
(synonymous variant)
Early-onset Lafora body disease
GLikely benign
PRDM8
(R448P)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(A393T)
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
Deletion
(inframe_deletion)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(T424P)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC129992745, PRDM8
Duplication
(inframe_insertion)
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
LOC129992745, PRDM8
(S512Y)
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
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
LOC126807094, PRDM8
(F168L)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC129992744, 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
(D12E)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(A395V)
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
(F362L)
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
(R266W)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC129992745, PRDM8
(S509L)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(K435N)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
(Q111E)
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
(S360I)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
PRDM8
(Q624P)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC129992745, PRDM8
(Q503R)
Single nucleotide variant
(missense variant)
Early-onset Lafora body disease
GUncertain significance
LOC126807094, PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC129992744, PRDM8
Single nucleotide variant
(synonymous 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
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
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
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
LOC126807094, PRDM8
Single nucleotide variant
(intron 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
+1 more
GLikely benign
PRDM8
Single nucleotide variant
(intron 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
LOC129992745, 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
LOC126807094, PRDM8
Single nucleotide variant
(intron variant)
Early-onset Lafora body disease
GLikely benign
LOC129992745, 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
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