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Items: 1 to 100 of 827

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
ANKRD28, ARL8B
+962 more
Copy number gain
See cases
GPathogenic
LOC129936377, LOC129936378
+1111 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+730 more
Copy number gain
See cases
GPathogenic
NGLY1
Copy number loss
Congenital disorder of deglycosylation 1
GPathogenic
NGLY1
(S610R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NGLY1
(S634G +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(F651* +2 more)
Indel
(nonsense +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(I607L +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(C602Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation 1
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(H598Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(N596S +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
+1 more
GUncertain significance
NGLY1
(N596fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
NGLY1
Deletion
(nonsense +1 more)
not provided
GLikely pathogenic
NGLY1
(R592T +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(L632V +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(Q589fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of deglycosylation 1
+2 more
GPathogenic
NGLY1
(T630N +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(Q586fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(W585* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
NGLY1
(A584T +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(G581del +2 more)
Deletion
(inframe_deletion +1 more)
Congenital disorder of deglycosylation
+1 more
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
+1 more
GBenign
NGLY1
(R578G +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
NGLY1
(Q557R)
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(I595T +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(I571fs +3 more)
Deletion
(frameshift variant)
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(E611D +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(T568I +2 more)
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(S565fs +3 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NGLY1
(Y561F +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(Y603C +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(P543L)
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(S560C +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(S560P +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
+1 more
GUncertain significance
NGLY1
(L600P +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(S581R +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Deletion
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(S581N +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(S557G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NGLY1
(T539I)
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(D597V +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(D597G +3 more)
Single nucleotide variant
(missense variant)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Duplication
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Duplication
(intron variant)
Congenital disorder of deglycosylation
GBenign
NGLY1
Duplication
(intron variant)
Congenital disorder of deglycosylation
GBenign
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Deletion
(intron variant)
not specified
+1 more
GBenign
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NGLY1
Duplication
(intron variant)
not provided
GBenign
NGLY1
Deletion
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
NGLY1
Single nucleotide variant
(splice donor variant +1 more)
not provided
GPathogenic
NGLY1
(D555N +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GLikely pathogenic
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(D546fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of deglycosylation 1
+1 more
GPathogenic/Likely pathogenic
NGLY1
(L594P +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(Q549* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(Q549E +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(T547A +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(R544L +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(R568Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
(R544* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of deglycosylation
+2 more
GPathogenic
NGLY1
(R544G +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(W565* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(W541* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(E564fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of deglycosylation
GPathogenic
NGLY1
(E564G +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of deglycosylation
GUncertain significance
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
NGLY1
Single nucleotide variant
(synonymous variant +1 more)
Congenital disorder of deglycosylation
GLikely benign
NGLY1
(G537fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital disorder of deglycosylation
GPathogenic
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