U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR9718, SIX1
(Q167H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Branchiootic syndrome 3
+1 more
GConflicting classifications of pathogenicity
SIX1
(E133del)
Deletion
(inframe_deletion)
Branchiootic syndrome 3
+2 more
GPathogenic/Likely pathogenic
SIX1
Deletion
(inframe_deletion)
Branchiootic syndrome 3
GLikely pathogenic
SIX1
(E125K)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GLikely pathogenic
SIX1
(L103fs)
Duplication
(frameshift variant)
Branchiootic syndrome 3
GPathogenic
Format
Sort by
Choose Destination