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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MKKS
(C293fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome
GPathogenic
MKKS
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+3 more
GBenign
MKKS
(F144fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
GPathogenic
MKKS
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
MKKS
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome
GBenign
LOC128706665, LOC128706666
+1 more
Duplication
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome
GBenign
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