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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEUROG3
(E74G)
Single nucleotide variant
(missense variant)
Congenital malabsorptive diarrhea 4
GUncertain significance
NEUROG3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NEUROG3
(Y131C)
Single nucleotide variant
(missense variant)
Congenital malabsorptive diarrhea 4
+1 more
GUncertain significance
NEUROG3
(R95P)
Single nucleotide variant
(missense variant)
Congenital malabsorptive diarrhea 4
GPathogenic
NEUROG3
(T124R)
Single nucleotide variant
(missense variant)
Congenital malabsorptive diarrhea 4
GPathogenic
NEUROG3
(I132F)
Single nucleotide variant
(missense variant)
Congenital malabsorptive diarrhea 4
GLikely pathogenic
NEUROG3
(T138R)
Single nucleotide variant
(missense variant)
Congenital malabsorptive diarrhea 4
GUncertain significance
NEUROG3
(C54*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
NEUROG3
(F199S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
NEUROG3
(R93L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NEUROG3
(R107S)
Single nucleotide variant
(missense variant)
NEUROG3-related disorder
+1 more
GPathogenic/Likely pathogenic
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