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Items: 1 to 100 of 388

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Deletion
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
SPATA22, ASPA
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(A287V)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(L30V)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Deletion
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(Y288H)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(V179fs)
Duplication
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(C4fs)
Indel
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
SPATA22, ASPA
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(M1I)
Single nucleotide variant
(missense variant +2 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(P245fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(V186A)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
Microsatellite
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(Y88*)
Single nucleotide variant
(nonsense +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(N70S)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(A57T)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(T53fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Duplication
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Microsatellite
(intron variant)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(A296fs)
Duplication
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic/Likely pathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(V14fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(E158*)
Single nucleotide variant
(nonsense +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(T299fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(N121fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(Q12fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(T298fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(E290*)
Single nucleotide variant
(nonsense +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(L126fs)
Microsatellite
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(I226T)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+1 more
GLikely pathogenic
ASPA, SPATA22
(F295S)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(F135L)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
(H244L)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+1 more
GConflicting classifications of pathogenicity
ASPA, CAMKK1
+11 more
Deletion
Spongy degeneration of central nervous system
GPathogenic
ASPA
Duplication
Spongy degeneration of central nervous system
GUncertain significance
ASPA
Duplication
Spongy degeneration of central nervous system
GUncertain significance
ASPA
Deletion
Spongy degeneration of central nervous system
GPathogenic
ASPA
Deletion
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Deletion
(inframe_indel +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(C310Y)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
(T44R)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
(Y288C)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
Gnot provided
ASPA, SPATA22
(L126V)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+1 more
GUncertain significance
ASPA, SPATA22
(I157T)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
(T145fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
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