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Links from MedGen

Items: 1 to 100 of 282

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG2
(D73fs)
Indel
(frameshift variant +1 more)
ALG2-congenital disorder of glycosylation
GLikely pathogenic
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(L312H)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(intron variant)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(intron variant)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(intron variant)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(intron variant)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
TBC1D2, TDRD7
+22 more
Duplication
ALG2-congenital disorder of glycosylation
+2 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(I49M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(V95I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(Y281H)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(F184L)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(P322T)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(M1I)
Single nucleotide variant
(missense variant +2 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(R378H)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(V394L)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(L79V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-related condition
+2 more
GLikely benign
ALG2
(R251C)
Indel
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(Q249R)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(M94I)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(D110H)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(L151P)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(D106N)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(S381T)
Inversion
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(R128G)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(R130del)
Microsatellite
(inframe_deletion +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(S310Y)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(A2V)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(F103fs)
Deletion
(frameshift variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(N324S)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+3 more
GUncertain significance
ALG2
(E325G)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(E272K)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(C317R)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(V33L)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(C45fs)
Deletion
(frameshift variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(C120Y)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(V113M)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(K308fs)
Deletion
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(M335I)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(T412N)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(I231V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Duplication
(inframe_insertion +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(F60Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(T187I)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(V12L)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(A98T)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
GUncertain significance
ALG2
(Q338H)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(D197G)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-related condition
+2 more
GLikely benign
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-related condition
+2 more
GLikely benign
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(intron variant)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(intron variant)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
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