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Links from MedGen

Items: 1 to 100 of 3180

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LYST
(D792fs)
Microsatellite
(frameshift variant)
Chédiak-Higashi syndrome
GLikely pathogenic
LYST
(L2431fs)
Deletion
(frameshift variant)
Chédiak-Higashi syndrome
GLikely pathogenic
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LOC126806063, LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
(A1546G)
Single nucleotide variant
(missense variant)
Chédiak-Higashi syndrome
GUncertain significance
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
+1 more
GLikely benign
LYST
Deletion
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Deletion
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
(G3385*)
Single nucleotide variant
(nonsense)
Chédiak-Higashi syndrome
GPathogenic
LYST
(M3526V)
Single nucleotide variant
(missense variant)
Chédiak-Higashi syndrome
GUncertain significance
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Microsatellite
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant +1 more)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Insertion
(nonsense)
Chédiak-Higashi syndrome
GPathogenic
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(splice acceptor variant)
Chédiak-Higashi syndrome
GLikely pathogenic
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
(Y2026*)
Single nucleotide variant
(nonsense)
Chédiak-Higashi syndrome
GPathogenic
LYST
Single nucleotide variant
(intron variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
LYST
Single nucleotide variant
(synonymous variant)
Chédiak-Higashi syndrome
GLikely benign
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