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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP11C
(V969M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ATP11C
(Y519C +1 more)
Single nucleotide variant
(missense variant)
ATP11C-related disorder
GBenign
ATP11C
Single nucleotide variant
(synonymous variant)
ATP11C-related disorder
+1 more
GBenign/Likely benign
ATP11C
Single nucleotide variant
(intron variant)
ATP11C-related disorder
GBenign
ATP11C
(H187N +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ATP11C
Single nucleotide variant
(intron variant)
ATP11C-related disorder
GLikely benign
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