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Links from MedGen

Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCNT2
(H254fs)
Deletion
(frameshift variant +1 more)
Cataract 13 with adult I phenotype
GPathogenic
GCNT2
(P374L +1 more)
Single nucleotide variant
(missense variant)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
Deletion
Cataract 13 with adult I phenotype
GPathogenic
GCNT2
(Q191R)
Single nucleotide variant
(missense variant +1 more)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
(I224T)
Single nucleotide variant
(missense variant +1 more)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
(Y186*)
Single nucleotide variant
(nonsense)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
Single nucleotide variant
(synonymous variant +1 more)
Cataract 13 with adult I phenotype
GLikely benign
GCNT2
(S32R)
Single nucleotide variant
(missense variant +1 more)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
(K135E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GCNT2
(R332* +1 more)
Single nucleotide variant
(nonsense)
Cataract 13 with adult I phenotype
GPathogenic
C6orf52, GCM2
+6 more
Duplication
not provided
GUncertain significance
GCNT2
(D272E)
Single nucleotide variant
(missense variant +1 more)
Cataract 13 with adult I phenotype
+1 more
GBenign
GCNT2
Single nucleotide variant
(synonymous variant +1 more)
Cataract 13 with adult I phenotype
GLikely benign
GCNT2
Single nucleotide variant
(synonymous variant)
Cataract 13 with adult I phenotype
GLikely benign
GCNT2
(W5*)
Single nucleotide variant
(nonsense)
Cataract 13 with adult I phenotype
GPathogenic
GCNT2
(Y241C)
Single nucleotide variant
(missense variant +1 more)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
(Y347C +1 more)
Single nucleotide variant
(missense variant)
Cataract 13 with adult I phenotype
GPathogenic/Likely pathogenic
GCNT2
Deletion
Cataract 13 with adult I phenotype
GPathogenic
GCNT2
Deletion
Cataract 13 with adult I phenotype
GPathogenic
GCNT2
(A169T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
GCNT2
(K237fs)
Insertion
(frameshift variant +1 more)
Cataract 13 with adult I phenotype
GPathogenic
GCNT2
(I20fs)
Deletion
(frameshift variant +1 more)
Cataract 13 with adult I phenotype
GPathogenic
GCNT2
(F193V)
Single nucleotide variant
(missense variant +1 more)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
(K365T +1 more)
Single nucleotide variant
(missense variant)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
(G338S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GCNT2
Single nucleotide variant
(synonymous variant +1 more)
Blood group, I system
+2 more
GBenign
GCNT2
Single nucleotide variant
(synonymous variant +1 more)
Blood group, I system
+1 more
GBenign/Likely benign
GCNT2
(R173G)
Single nucleotide variant
(missense variant +1 more)
Blood group, I system
+1 more
GBenign
GCNT2
Single nucleotide variant
(synonymous variant +1 more)
Blood group, I system
+2 more
GBenign
GCNT2
(P85R)
Single nucleotide variant
(missense variant +1 more)
Blood group, I system
+1 more
GConflicting classifications of pathogenicity
GCNT2
(L3S)
Single nucleotide variant
(missense variant +1 more)
Blood group, I system
+2 more
GBenign
GCNT2
Single nucleotide variant
(synonymous variant +1 more)
Cataract 13 with adult I phenotype
+1 more
GBenign
GCNT2
Single nucleotide variant
(synonymous variant +1 more)
Cataract 13 with adult I phenotype
+3 more
GBenign
GCNT2
(S87fs)
Deletion
(frameshift variant +1 more)
Cataract 13 with adult I phenotype
+1 more
GUncertain significance
GCNT2
(Y342C +1 more)
Single nucleotide variant
(missense variant)
Cataract 13 with adult I phenotype
GUncertain significance
GCNT2
Deletion
Cataract 13 with adult I phenotype
GPathogenic
GCNT2
(R383H +1 more)
Single nucleotide variant
(missense variant)
Cataract 13 with adult I phenotype
GConflicting classifications of pathogenicity
GCNT2
(G348E +1 more)
Single nucleotide variant
(missense variant)
Cataract 13 with adult I phenotype
GPathogenic
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