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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS1
(H341fs +6 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
HPS1
(Q241fs +6 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
HPS1, MIR4685
(M238fs +6 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
HPS1
(M202fs +5 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
HPS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic
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