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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDPCP
(N688S +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+4 more
GBenign/Likely benign
WDPCP
(R483Q +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+3 more
GConflicting classifications of pathogenicity
WDPCP
(Q157* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
WDPCP
(I59N +1 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+4 more
GConflicting classifications of pathogenicity
WDPCP
(D28V +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GConflicting classifications of pathogenicity
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GBenign
WDPCP
(P23Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 15
+3 more
GBenign/Likely benign
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