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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSMCE2
Single nucleotide variant
(splice acceptor variant)
Seckel syndrome 10
GLikely pathogenic
NSMCE2
(A193T)
Single nucleotide variant
(missense variant +1 more)
Seckel syndrome 10
+1 more
GUncertain significance
NSMCE2
Single nucleotide variant
(intron variant)
Seckel syndrome 10
+1 more
GConflicting classifications of pathogenicity
NSMCE2
(A234fs)
Duplication
(frameshift variant +1 more)
Seckel syndrome 10
GPathogenic
NSMCE2
(S116fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
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