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Links from MedGen

Items: 1 to 100 of 458

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(M136V)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GBenign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(V395L)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(L12fs)
Duplication
(frameshift variant)
ALG12-congenital disorder of glycosylation
GPathogenic
ALG12
(Q54*)
Single nucleotide variant
(nonsense)
ALG12-congenital disorder of glycosylation
GPathogenic
ALG12
(V353L)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(Y444H)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(K336N)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(S329F)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(T31A)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(W244*)
Single nucleotide variant
(nonsense)
ALG12-congenital disorder of glycosylation
GPathogenic
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(R233fs)
Deletion
(frameshift variant)
ALG12-congenital disorder of glycosylation
GPathogenic
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Duplication
(splice donor variant)
ALG12-congenital disorder of glycosylation
GLikely pathogenic
ALG12
(T113M)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Deletion
ALG12-congenital disorder of glycosylation
GPathogenic
ALG12
(L443P)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(P422A)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(C274Y)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(T292M)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(K342Q)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(splice donor variant)
ALG12-congenital disorder of glycosylation
GLikely pathogenic
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(I98M)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(R270C)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(V157L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(N246H)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Deletion
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(V472I)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(P487R)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(L12fs)
Deletion
(frameshift variant)
ALG12-congenital disorder of glycosylation
GPathogenic
ALG12
(I322N)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(L332P)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(H289R)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(G425V)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
(F178S)
Single nucleotide variant
(missense variant)
ALG12-congenital disorder of glycosylation
GUncertain significance
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(intron variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
ALG12
(F142fs)
Indel
(frameshift variant)
ALG12-congenital disorder of glycosylation
GPathogenic
ALG12
Single nucleotide variant
(synonymous variant)
ALG12-congenital disorder of glycosylation
GLikely benign
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