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Items: 5

  • The following term was not found in ClinVar: diacetate.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR
(S955A)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GUncertain significance
FKTN
(A170E +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1X
+1 more
GLikely pathogenic
ATP7B
(H1069Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ATP7B
(R778L +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
+3 more
GPathogenic
LOC129390683, SLC12A6
(R207C +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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