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 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MGAT2
(G432R)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(N400fs)
Deletion
(frameshift variant)
MGAT2-congenital disorder of glycosylation
GLikely pathogenic
MGAT2
(W362*)
Single nucleotide variant
(nonsense)
MGAT2-congenital disorder of glycosylation
GLikely pathogenic
MGAT2
(T412fs)
Deletion
(frameshift variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GLikely benign
MGAT2
(E117Q)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(Q281P)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(G55R)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(Y269H)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(D261Y)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(C339fs)
Deletion
(frameshift variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-related disorder
+1 more
GBenign/Likely benign
MGAT2
(T412A)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GLikely benign
MGAT2
(A421V)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(F272L)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(C283Y)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GLikely benign
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GLikely benign
MGAT2
(T88R)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(L256V)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(R105S)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GLikely benign
MGAT2
(Q182E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MGAT2
(R92L)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(K109N)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(C170Y)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(N69S)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(G49D)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(D101V)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(A78V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(I5M)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GBenign
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(L289H)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(I255T)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(P197H)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2, LOC130055539
Single nucleotide variant
MGAT2-congenital disorder of glycosylation
GUncertain significance
LOC130055539, MGAT2
Single nucleotide variant
MGAT2-congenital disorder of glycosylation
GUncertain significance
LOC130055539, MGAT2
Single nucleotide variant
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-related disorder
+1 more
GLikely benign
MGAT2
(P77S)
Single nucleotide variant
(missense variant)
MGAT2-related disorder
+1 more
GConflicting classifications of pathogenicity
MGAT2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MGAT2
(A84S)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(P284S)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(V23A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MGAT2
(P266L)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(P171T)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(D267H)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GPathogenic
MGAT2
(Q31*)
Single nucleotide variant
(nonsense)
MGAT2-congenital disorder of glycosylation
GPathogenic
MGAT2
(A252fs)
Duplication
(frameshift variant)
MGAT2-congenital disorder of glycosylation
GPathogenic
MGAT2
(H374Y)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GPathogenic
MGAT2
(A78T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MGAT2
(V288I)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(T230P)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
+1 more
GBenign/Likely benign
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
MGAT2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
MGAT2
Single nucleotide variant
(3 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
MGAT2
(T324S)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-congenital disorder of glycosylation
+1 more
GBenign
DNAAF2, MGAT2
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
+3 more
GBenign/Likely benign
MGAT2
Single nucleotide variant
(synonymous variant)
MGAT2-related disorder
+2 more
GConflicting classifications of pathogenicity
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
DNAAF2, MGAT2
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia
+3 more
GBenign
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
DNAAF2, MGAT2
Single nucleotide variant
(5 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
LOC130055539, MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
LOC130055539, MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
LOC130055539, MGAT2
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC130055539, MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
LOC130055539, MGAT2
Single nucleotide variant
(5 prime UTR variant)
MGAT2-congenital disorder of glycosylation
GUncertain significance
MGAT2
(K33N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
MGAT2
(V245L)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
+1 more
GUncertain significance
MGAT2
(K237N)
Single nucleotide variant
(missense variant)
MGAT2-congenital disorder of glycosylation
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination