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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB6
(P232H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
GJB6
(N230fs)
Duplication
(frameshift variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1B
+4 more
GConflicting classifications of pathogenicity
GJB6
(S199T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1B
+5 more
GConflicting classifications of pathogenicity
GJB6
(N159S)
Single nucleotide variant
(missense variant)
GJB6-related condition
+6 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GJB6
(N113K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 3B
+5 more
GBenign/Likely benign
GJB6
(A88fs)
Duplication
(frameshift variant)
not provided
GPathogenic
GJB6
Single nucleotide variant
(synonymous variant)
GJB6-related condition
+5 more
GConflicting classifications of pathogenicity
GJB6
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 1B
+5 more
GConflicting classifications of pathogenicity
GJB6
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
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