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Links from MedGen

Items: 1 to 100 of 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Microsatellite
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(splice acceptor variant)
Peters plus syndrome
GLikely pathogenic
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(splice acceptor variant)
Peters plus syndrome
GLikely pathogenic
B3GLCT
Deletion
(inframe_deletion)
Peters plus syndrome
GUncertain significance
B3GLCT
Deletion
Peters plus syndrome
GPathogenic
B3GLCT
(L97F)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
(T145I)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT, LOC130009514
Deletion
(inframe_deletion)
Peters plus syndrome
GUncertain significance
B3GLCT, LOC130009514
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
(Q339*)
Single nucleotide variant
(nonsense)
Peters plus syndrome
GPathogenic
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
(R445Q)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(D469N)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
(H442Y)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(splice acceptor variant)
Peters plus syndrome
GLikely pathogenic
B3GLCT
(I286F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
B3GLCT
(A166T)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(splice donor variant)
Peters plus syndrome
GLikely pathogenic
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Deletion
(intron variant)
Peters plus syndrome
GBenign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Deletion
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GLikely benign
B3GLCT
Duplication
Peters plus syndrome
GUncertain significance
B3GLCT
(T235I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GUncertain significance
B3GLCT, LOC130009514
(C6Y)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT, LOC130009514
(L10F)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(E239G)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(I225V)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(Y449*)
Single nucleotide variant
(nonsense)
Peters plus syndrome
GUncertain significance
B3GLCT
(A86S)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(D484G)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(Q457R)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(I168M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
B3GLCT
(P112L)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(I286V)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(L440V)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(P232A)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(Y380*)
Single nucleotide variant
(nonsense)
Peters plus syndrome
+2 more
GPathogenic/Likely pathogenic
B3GLCT
(K34fs)
Microsatellite
(frameshift variant)
Peters plus syndrome
GPathogenic
B3GLCT
(Y389*)
Single nucleotide variant
(nonsense)
Peters plus syndrome
GPathogenic
B3GLCT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
B3GLCT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
B3GLCT
Duplication
(intron variant)
Peters plus syndrome
+1 more
GBenign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
+1 more
GBenign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
+1 more
GBenign
B3GLCT
Deletion
(intron variant)
Peters plus syndrome
+1 more
GBenign
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
+1 more
GBenign
B3GLCT
(G57A)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GLikely benign
B3GLCT
(E496G)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(V458I)
Single nucleotide variant
(missense variant)
Peters plus syndrome
+1 more
GUncertain significance
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(F156I)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GBenign
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GBenign
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GBenign
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GBenign
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GBenign
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GBenign
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GLikely benign
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(intron variant)
Peters plus syndrome
GConflicting classifications of pathogenicity
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(synonymous variant)
Peters plus syndrome
GUncertain significance
B3GLCT
(K141E)
Single nucleotide variant
(missense variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
B3GLCT
Single nucleotide variant
(3 prime UTR variant)
Peters plus syndrome
GUncertain significance
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