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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC100506071, COCH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
(R91Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
COCH, LOC100506071
(R148* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COCH, LOC100506071
Single nucleotide variant
(intron variant)
Nonsyndromic genetic hearing loss
GBenign
COCH, LOC100506071
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal dominant nonsyndromic hearing loss 9
+2 more
GBenign
COCH, LOC100506071
(I450V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
COCH, LOC100506071
(P516L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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