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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LYST
(Q3788*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
LYST
(R3412H)
Single nucleotide variant
(missense variant)
Chédiak-Higashi syndrome
+4 more
GUncertain significance
LYST
(L3184F)
Single nucleotide variant
(missense variant)
Chédiak-Higashi syndrome
+1 more
GConflicting classifications of pathogenicity
LYST
(M2621T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LYST
Single nucleotide variant
(splice donor variant)
Chédiak-Higashi syndrome
+1 more
GUncertain significance
LYST
(A2357G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LYST
(T1982I)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+4 more
GBenign/Likely benign
LYST
(H123R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
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