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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMG9
(W503S)
Single nucleotide variant
(missense variant)
Heart and brain malformation syndrome
GPathogenic
SMG9
Deletion
Heart and brain malformation syndrome
GPathogenic
SMG9
(P164S)
Single nucleotide variant
(missense variant)
Heart and brain malformation syndrome
GUncertain significance
SMG9
Single nucleotide variant
(intron variant)
Heart and brain malformation syndrome
GBenign
SMG9
(M221T)
Single nucleotide variant
(missense variant)
Heart and brain malformation syndrome
GUncertain significance
SMG9
(Q393*)
Single nucleotide variant
(nonsense)
Heart and brain malformation syndrome
+1 more
GPathogenic
SMG9
(R385Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SMG9
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SMG9
(P174fs)
Deletion
(frameshift variant)
Brainstem dysplasia
+3 more
GLikely pathogenic
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