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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTRC
(I234fs)
Deletion
(frameshift variant)
Chronic pancreatitis
GLikely pathogenic
SPINK1
Single nucleotide variant
(splice donor variant)
Chronic pancreatitis
+3 more
GConflicting classifications of pathogenicity
CFTR
(R170H)
Single nucleotide variant
(missense variant)
Hereditary pancreatitis
+6 more
GConflicting classifications of pathogenicity
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