U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MKS1
(C492W +3 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
MKS1
(S372del +1 more)
Deletion
(inframe_deletion)
Polydactyly
+9 more
GPathogenic/Likely pathogenic