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Items: 1 to 100 of 222

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPM1
(I61T)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
(K232T +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1
(H123R)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
(P10T)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
(I61fs)
Deletion
(frameshift variant +1 more)
Congenital disorder of glycosylation type 1E
GPathogenic
ADNP-AS1, DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
(F51del)
Deletion
(inframe_deletion +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP, DPM1
+1 more
Deletion
Congenital disorder of glycosylation type 1E
GPathogenic
DPM1
Duplication
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
(R168Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
Duplication
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
(S21N)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
(Q24E)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(V6I)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(S13C)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
+1 more
GUncertain significance
ADNP-AS1, DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
(L159F)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(R8S)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
(E137K)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
(G150R)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
(M211T +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, ADNP-AS1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
(V154I)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
Duplication
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
(K136E)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
(G241A +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
(R147H)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
Deletion
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital disorder of glycosylation type 1E
GLikely pathogenic
DPM1
(D120H)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
(E16K)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
(I174S +2 more)
Single nucleotide variant
(missense variant +2 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(E5Q)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
(L176fs +2 more)
Deletion
(frameshift variant +2 more)
Congenital disorder of glycosylation type 1E
GPathogenic
DPM1, LOC130066166
(R23G)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1
(I128V)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
+1 more
GUncertain significance
LOC130066166, DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
(I116del)
Microsatellite
(inframe_deletion +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(P32S)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Microsatellite
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
Deletion
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1
(T71I)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1
(Y113N)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
Single nucleotide variant
(splice donor variant)
Congenital disorder of glycosylation type 1E
GLikely pathogenic
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
ADNP-AS1, DPM1
(F266S +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(L17V)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
(Q196R +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1
(A119T)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(L4W)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
(A194T +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GConflicting classifications of pathogenicity
DPM1
Single nucleotide variant
(intron variant)
Congenital disorder of glycosylation type 1E
GLikely benign
DPM1, LOC130066166
(E18fs)
Deletion
(frameshift variant +1 more)
Congenital disorder of glycosylation type 1E
GPathogenic
DPM1
Deletion
(nonsense +1 more)
Congenital disorder of glycosylation type 1E
GPathogenic
ADNP-AS1, DPM1
(R218* +3 more)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of glycosylation type 1E
GPathogenic
ADNP-AS1, DPM1
(Y184C +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
ADNP-AS1, DPM1
(Y213H +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(S21R)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
+1 more
GUncertain significance
ADNP-AS1, DPM1
(R216Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ADNP-AS1, DPM1
(G183V +3 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(I43V)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(R37C)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
DPM1, LOC130066166
(P41R)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation type 1E
GUncertain significance
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