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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDC14A
(Y139* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 32
GPathogenic
CDC14A
(R312G +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CDC14A
(R312Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CDC14A
(Q320P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 32
GLikely pathogenic
CDC14A
(R339* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CDC14A
(R345* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CDC14A
(R376* +2 more)
Single nucleotide variant
(nonsense)
Ear malformation
+1 more
GPathogenic/Likely pathogenic
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