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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIX1
(E133del)
Deletion
(inframe_deletion)
Branchiootic syndrome 3
+2 more
GPathogenic/Likely pathogenic
SIX1
(Y129C)
Single nucleotide variant
(missense variant)
SIX1-related condition
+4 more
GPathogenic/Likely pathogenic
SIX1
(E125K)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
+1 more
GLikely pathogenic
SIX1
(R112C)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
Gnot provided
SIX1
(R110W)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 23
+2 more
GPathogenic
SIX1
(V106G)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
Gnot provided
SIX1
(V17E)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 3
Gnot provided
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