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Links from MedGen

Items: 1 to 100 of 179

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(R186C +8 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(A18S)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(M249R +16 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(A120T +8 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(G275fs)
Deletion
(frameshift variant)
ALG8 congenital disorder of glycosylation
GPathogenic
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
+1 more
GLikely benign
ALG8
(E452fs)
Duplication
(frameshift variant +1 more)
ALG8 congenital disorder of glycosylation
GPathogenic
ALG8
Duplication
(frameshift variant +2 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(H13R +7 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(G103V +9 more)
Single nucleotide variant
(missense variant +1 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(P136S +9 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(I171T +9 more)
Single nucleotide variant
(missense variant +1 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(P331L +1 more)
Single nucleotide variant
(synonymous variant +2 more)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(L116F +9 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(I73T +5 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
+1 more
GUncertain significance
ALG8
(A301P +15 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(T35A +1 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(V350I +18 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(splice donor variant)
ALG8 congenital disorder of glycosylation
GLikely pathogenic
ALG8
(S271L +16 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(V266I +10 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(L254V +8 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(R123C +4 more)
Single nucleotide variant
(missense variant)
ALG8-related disorder
+1 more
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(R108I +4 more)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(H33Y)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(P425Q)
Single nucleotide variant
(missense variant)
ALG8-related disorder
+1 more
GUncertain significance
ALG8
Deletion
(intron variant)
ALG8 congenital disorder of glycosylation
GBenign
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(R215Q)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(L203R)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(A287T)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(Q87*)
Single nucleotide variant
(nonsense)
ALG8 congenital disorder of glycosylation
GPathogenic
ALG8
Deletion
(splice donor variant)
ALG8 congenital disorder of glycosylation
GLikely pathogenic
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(L149P)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(V39L)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(L390I)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8-related disorder
+1 more
GLikely benign
ALG8
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(H48fs)
Microsatellite
(frameshift variant)
ALG8 congenital disorder of glycosylation
GPathogenic
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(G130E)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(M375V)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(I77T)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(I46V)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(P224Q)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(T64M)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(synonymous variant +1 more)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
(V248A)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(R184S)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(F270L)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(S267P)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(H160Y)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GPathogenic
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(synonymous variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
+1 more
GLikely benign
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8, LOC130006492
Single nucleotide variant
(intron variant)
Polycystic liver disease 3 with or without kidney cysts
+1 more
GLikely benign
ALG8
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GLikely benign
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
+1 more
GLikely benign
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(N457D)
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(R268fs)
Deletion
(frameshift variant)
Polycystic liver disease 3 with or without kidney cysts
+1 more
GPathogenic/Likely pathogenic
ALG8
(R268*)
Single nucleotide variant
(nonsense)
ALG8 congenital disorder of glycosylation
GPathogenic
ALG8
(V328I)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(P488R)
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(A258T)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
+1 more
GUncertain significance
ALG8
(L465F)
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
(P419L)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(splice donor variant)
Polycystic liver disease 3 with or without kidney cysts
+2 more
GLikely pathogenic
ALG8
(L407fs)
Deletion
(frameshift variant)
ALG8 congenital disorder of glycosylation
GPathogenic
ALG8
(P69L)
Single nucleotide variant
(missense variant)
ALG8 congenital disorder of glycosylation
GLikely pathogenic
ALG8
(T504R)
Single nucleotide variant
(3 prime UTR variant +1 more)
ALG8 congenital disorder of glycosylation
GUncertain significance
ALG8
Single nucleotide variant
(intron variant)
ALG8 congenital disorder of glycosylation
+2 more
GBenign/Likely benign
ALG8
Deletion
(intron variant)
not provided
+1 more
GBenign
ALG8
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALG8
Deletion
(intron variant)
ALG8 congenital disorder of glycosylation
+1 more
GLikely benign
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