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Links from MedGen

Items: 1 to 100 of 749

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Deletion
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(splice acceptor variant)
Sphingolipid activator protein 1 deficiency
GLikely pathogenic
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Deletion
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
(Q203fs)
Deletion
(frameshift variant)
Sphingolipid activator protein 1 deficiency
GPathogenic
PSAP
(E356* +2 more)
Single nucleotide variant
(nonsense)
Sphingolipid activator protein 1 deficiency
GPathogenic
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Microsatellite
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
(W53*)
Single nucleotide variant
(nonsense)
Sphingolipid activator protein 1 deficiency
GPathogenic
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(splice acceptor variant)
Sphingolipid activator protein 1 deficiency
GLikely pathogenic
PSAP
Single nucleotide variant
(splice donor variant)
Sphingolipid activator protein 1 deficiency
GLikely pathogenic
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
(F474fs +2 more)
Deletion
(frameshift variant)
Sphingolipid activator protein 1 deficiency
GPathogenic
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(splice donor variant)
Sphingolipid activator protein 1 deficiency
GLikely pathogenic
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
(E468fs +2 more)
Deletion
(frameshift variant)
Sphingolipid activator protein 1 deficiency
GPathogenic
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(splice donor variant)
Sphingolipid activator protein 1 deficiency
GLikely pathogenic
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(splice acceptor variant)
Sphingolipid activator protein 1 deficiency
GLikely pathogenic
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Deletion
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
(Q50*)
Single nucleotide variant
(nonsense)
Sphingolipid activator protein 1 deficiency
GPathogenic
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(synonymous variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
PSAP
Single nucleotide variant
(intron variant)
Sphingolipid activator protein 1 deficiency
GLikely benign
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