U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG11, UTP14C
(I594T)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
Single nucleotide variant
(synonymous variant +1 more)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, LOC130009841
(C9*)
Single nucleotide variant
(nonsense +1 more)
ALG11-congenital disorder of glycosylation
GPathogenic
ALG11, UTP14C
(E488*)
Single nucleotide variant
(nonsense +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(C407F)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-related disorder
+1 more
GLikely benign
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, UTP14C
(R346C)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(W260R)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11
(P311L)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(N257S)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
(I122L)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(M165T)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(K492fs)
Deletion
(frameshift variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, LOC130009841
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
(R80G)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, UTP14C
(D425N)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(C84Y)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, UTP14C
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, UTP14C
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, UTP14C
Single nucleotide variant
(synonymous variant +1 more)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, LOC130009841
Single nucleotide variant
(synonymous variant +1 more)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, LOC130009841
(C11G)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(K313E)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(A221G)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(G109S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALG11
(P316A)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(I42V)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(E387A)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11, UTP14C
(M395T)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GLikely pathogenic
LOC130009841, ALG11
(M1T)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GLikely pathogenic
ALG11, LOC130009842
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
+1 more
GLikely benign
ALG11, UTP14C
Single nucleotide variant
(synonymous variant +1 more)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, ATP7B
+1 more
Deletion
ALG11-congenital disorder of glycosylation
+1 more
GPathogenic
ALG11
(M63L)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(D174E)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11, UTP14C
(V331F)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
(M1V)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GLikely pathogenic
ALG11
(N212K)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(A450V)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(Q166R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALG11, UTP14C
(V157G)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11, UTP14C
(V109D)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(V93I)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(V64M)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(S56R)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
(S7R)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
LOC130009841, ALG11
(G4S)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11, UTP14C
(R58W)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
+1 more
GLikely benign
ALG11, UTP14C
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
Single nucleotide variant
(synonymous variant +2 more)
ALG11-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
ALG11, UTP14C
(V405A)
Single nucleotide variant
(missense variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(R346H)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(H192R)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(R180S)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(M176V)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(P94R)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, UTP14C
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
ALG11
(G300E)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
(A2V)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, ATP7B
+7 more
Duplication
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(T275A)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
(R136C)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG11, UTP14C
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
ALG11
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GLikely benign
ALG11, UTP14C
(M408R)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
ALG11
(E312G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ALG11, UTP14C
(K329del)
Microsatellite
(inframe_deletion +1 more)
not provided
GConflicting classifications of pathogenicity
ALG11, LOC130009841
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
+1 more
GBenign/Likely benign
UTP14C, ALG11
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
ALG11, UTP14C
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GBenign
ALG11, UTP14C
(K247E)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(T101A)
Single nucleotide variant
(non-coding transcript variant +2 more)
ALG11-congenital disorder of glycosylation
+1 more
GBenign
ALG11, UTP14C
(G85V)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
+1 more
GBenign
ALG11, UTP14C
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(S28N)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
(L21F)
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
Single nucleotide variant
(non-coding transcript variant +2 more)
ALG11-congenital disorder of glycosylation
+1 more
GBenign
ALG11, UTP14C
Single nucleotide variant
(3 prime UTR variant +2 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
Single nucleotide variant
(intron variant)
ALG11-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
ALG11, UTP14C
(C345F)
Single nucleotide variant
(missense variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, UTP14C
Single nucleotide variant
(synonymous variant +1 more)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
+2 more
GBenign
ALG11
(A179T)
Single nucleotide variant
(missense variant)
ALG11-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
ALG11
(L86V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALG11
Single nucleotide variant
(synonymous variant)
ALG11-congenital disorder of glycosylation
GUncertain significance
ALG11, LOC130009841
(R15T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ATP7B, ALG11
+1 more
Single nucleotide variant
Wilson disease
+2 more
GUncertain significance
ALG11, UTP14C
(I170V)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALG11
(N58I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination