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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPINK5
(R268C)
Single nucleotide variant
(missense variant)
Netherton syndrome
+3 more
GBenign/Likely benign
SPINK5
(R484K)
Single nucleotide variant
(missense variant)
SPINK5-related disorder
+3 more
GConflicting classifications of pathogenicity
SPINK5
(I588M)
Single nucleotide variant
(missense variant)
Ichthyosis linearis circumflexa
+2 more
GBenign
SPINK5
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
SPINK5
(E748G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SPINK5
(K969E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
SPINK5
(H972R +1 more)
Single nucleotide variant
(missense variant)
Ichthyosis linearis circumflexa
+2 more
GBenign
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