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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOXHD1
(Y1053* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
LOXHD1
(T817fs +4 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 77
GLikely pathogenic
LOXHD1
(R1494* +2 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
LOXHD1
Duplication
(inframe_insertion)
not specified
+2 more
GConflicting classifications of pathogenicity
LOXHD1
(R587W)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 77
+1 more
GUncertain significance
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