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Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(G10fs)
Deletion
(frameshift variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic
DPM2
(Q7* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic
DPM2
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(G36E +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely pathogenic
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(T22I)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(V72M +1 more)
Inversion
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(Y71C +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(I4V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(T3M)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(A26F +1 more)
Indel
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DPM2
Deletion
(intron variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2, LOC130002675
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(S70P +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
AK1, BBLN
+22 more
Deletion
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic
DPM2
(K12E +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(T25S)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2, LOC130002675
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(L32V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DPM2
(G12D)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(G58D +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic
DPM2
(R47* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic/Likely pathogenic
DPM2
(V21I +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(Y13H +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Insertion
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(Q37fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(K47E +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
LOC130002675, DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2, LOC130002675
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2, LOC130002675
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2, LOC130002675
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2, LOC130002675
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(synonymous variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
LOC130002656, LOC130002657
+93 more
Duplication
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(Y71C +1 more)
Indel
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(S36N +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(L13fs)
Deletion
(frameshift variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GConflicting classifications of pathogenicity
DPM2
(Y49C +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(D6N)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(Y49N +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(A52T +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(S70A +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
DPM2
(T22A)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GBenign/Likely benign
DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
+1 more
GBenign
DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
+1 more
GLikely benign
DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
LOC130002675, DPM2
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2, LOC130002675
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
+1 more
GBenign
DPM2, LOC130002675
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2, LOC130002675
Single nucleotide variant
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2, LOC130002675
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(L30V)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GConflicting classifications of pathogenicity
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