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Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002527, LOC130002528
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003109, LOC130003110
+1210 more
Copy number gain
See cases
GPathogenic
AK1, ANGPTL2
+250 more
Copy number loss
See cases
GPathogenic
AK1, ANGPTL2
+309 more
Copy number loss
See cases
GPathogenic
LOC130002656, LOC130002657
+93 more
Duplication
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
LOC130002653, LOC130002654
+130 more
Deletion
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
+1 more
GPathogenic
AK1, ASB6
+264 more
Copy number loss
See cases
GPathogenic
ASB6, BBLN
+239 more
Copy number gain
See cases
GPathogenic
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
(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
(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
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(K47E +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(T76S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
DPM2
(V72M +1 more)
Inversion
(missense variant +1 more)
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
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GBenign
DPM2
(Y71C +1 more)
Single nucleotide variant
(missense variant +1 more)
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
DPM2
(S70A +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
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
GConflicting classifications of pathogenicity
DPM2
Insertion
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
Single nucleotide variant
(intron variant)
not provided
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
(intron variant)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(L32V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DPM2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely 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 +1 more)
not specified
+1 more
GBenign/Likely benign
DPM2
(G58D +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic
DPM2
(A26V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPM2
(A26F +1 more)
Indel
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
+1 more
GUncertain significance
DPM2
(A26S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
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
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)
not specified
GLikely benign
DPM2
(V21I +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(Y49C +1 more)
Single nucleotide variant
(missense variant +1 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
Single nucleotide variant
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(R47* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic/Likely pathogenic
DPM2
(R17fs +1 more)
Deletion
(frameshift variant +1 more)
not specified
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
(K42T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DPM2
(K12E +1 more)
Single nucleotide variant
(missense variant +1 more)
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
(synonymous variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(Q37fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(Q7* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic
DPM2
(S36N +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
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
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
(non-coding transcript variant +1 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
Deletion
(intron variant +1 more)
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
Single nucleotide variant
(non-coding transcript 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
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
DPM2
Single nucleotide variant
(intron variant)
not provided
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
(intron variant)
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
(T25S)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GUncertain significance
DPM2
(Y23C)
Single nucleotide variant
(missense variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GPathogenic
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)
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
(T22A)
Single nucleotide variant
(missense variant +2 more)
DPM2-related condition
+3 more
GBenign/Likely benign
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 +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GLikely benign
DPM2
(L13fs)
Deletion
(frameshift variant +2 more)
Congenital muscular dystrophy with intellectual disability and severe epilepsy
GConflicting classifications of pathogenicity
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