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Links from MedGen

Items: 1 to 100 of 2950

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(L887F)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(L2032fs +2 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Duplication
(intron variant)
Hereditary spastic paraplegia 11
GBenign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(E841fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(G2067fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(Y875*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
LOC130056971, SPG11
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(N1369fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(I2062fs +2 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Deletion
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(T1764fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Duplication
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(G2069fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Deletion
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Deletion
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Insertion
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(Q1888* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Deletion
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(Q1624*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(D1912fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
LOC130056973, SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(W338*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(C2090fs +2 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Insertion
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Duplication
(intron variant)
Hereditary spastic paraplegia 11
GBenign
SPG11
(T1311I)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+1 more
GConflicting classifications of pathogenicity
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
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