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Links from MedGen

Items: 1 to 100 of 693

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Hereditary spastic paraplegia 7
GPathogenic
SPG7
(T618I)
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(P750S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(G276R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(V549M)
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(R172P)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 7
GLikely benign
LOC130059818, SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(P14A +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(A590D)
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 7
GUncertain significance
LOC130059818, SPG7
Microsatellite
(inframe_insertion)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(F324L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(A708V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(H83R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
LOC130059818, SPG7
(P34T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(V571F +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(R207Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
LOC130059818, SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Duplication
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(A200T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Duplication
(inframe_insertion)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 7
GLikely benign
LOC130059818, SPG7
(L4P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Deletion
(intron variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(I407L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
LOC130059818, SPG7
(M44I)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(L152R)
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Microsatellite
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(H315Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(S802Y +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(G232A +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(G414D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(W92fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 7
GPathogenic
SPG7
(L471P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(E567D +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(K355R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
LOC130059818, SPG7
(S30R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
LOC130059818, SPG7
(G18S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(F99L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(S116W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(Y406C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 7
GLikely pathogenic
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(R473Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(P242T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(R551C)
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(M314I)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(R7W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(A317V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(D187H)
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(R7G +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(E776*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
GLikely benign
SPG7
(L155M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Deletion
Hereditary spastic paraplegia 7
GPathogenic
SPG7
(G249E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 7
GPathogenic
SPG7
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 7
+1 more
GLikely benign
LOC130059818, SPG7
(P42S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC130059818, SPG7
(M1R)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 7
GPathogenic
SPG7
(D700G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 7
GLikely pathogenic
SPG7
(R417C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(Q435*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 7
GPathogenic
SPG7
(Y270fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 7
GPathogenic
SPG7
(M667I)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GLikely pathogenic
SPG7
(V311del)
Deletion
(inframe_deletion)
Hereditary spastic paraplegia 7
GLikely pathogenic
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GPathogenic
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