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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMN1
(Q90*)
Single nucleotide variant
(nonsense)
Werdnig-Hoffmann disease
GLikely pathogenic
SMN1
Indel
(intron variant)
Werdnig-Hoffmann disease
GPathogenic
SMN2
Single nucleotide variant
(intron variant)
Werdnig-Hoffmann disease
GUncertain significance
SMN2
Single nucleotide variant
(intron variant)
Werdnig-Hoffmann disease
GUncertain significance
SMN1
Copy number loss
Werdnig-Hoffmann disease
GPathogenic
SMN1
Copy number loss
Werdnig-Hoffmann disease
GPathogenic
SMN1
Deletion
(stop lost +3 more)
Werdnig-Hoffmann disease
GPathogenic
SMN1
Single nucleotide variant
(intron variant)
Werdnig-Hoffmann disease
GLikely pathogenic
SMN1
(V94F)
Single nucleotide variant
(missense variant)
Werdnig-Hoffmann disease
GLikely pathogenic
SMN1
(Q157*)
Single nucleotide variant
(nonsense)
Werdnig-Hoffmann disease
+1 more
GPathogenic
SMN1
Deletion
(splice acceptor variant +1 more)
Werdnig-Hoffmann disease
GPathogenic
SMN1
(E134fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
SMN1
(Q164K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMN1
Single nucleotide variant
(intron variant +1 more)
Spinal muscular atrophy
+1 more
GPathogenic/Likely pathogenic
SMN1
Single nucleotide variant
(synonymous variant +1 more)
Spinal muscular atrophy
+1 more
GConflicting classifications of pathogenicity
SMN1
(G229fs +1 more)
Duplication
(frameshift variant)
Werdnig-Hoffmann disease
+1 more
GPathogenic
SMN1
(C289S +1 more)
Single nucleotide variant
(missense variant +1 more)
Werdnig-Hoffmann disease
+4 more
GUncertain significance
SMN1
Deletion
Spinal muscular atrophy, type II
+3 more
GPathogenic
SMN1
(Q136E)
Single nucleotide variant
(missense variant)
Werdnig-Hoffmann disease
GPathogenic
SMN1
(I116F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SMN1
(A111G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SMN1
(E147fs)
Deletion
(frameshift variant)
Werdnig-Hoffmann disease
GPathogenic
SMN1
(G279V +1 more)
Single nucleotide variant
(missense variant +1 more)
Werdnig-Hoffmann disease
GPathogenic
SMN1
(Y272C +1 more)
Single nucleotide variant
(missense variant)
Spinal muscular atrophy
+2 more
GPathogenic/Likely pathogenic
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