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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB6
(N230fs)
Duplication
(frameshift variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GJB6
(V207M)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+4 more
GUncertain significance
GJB6
(M203V)
Single nucleotide variant
(missense variant)
Hidrotic ectodermal dysplasia syndrome
+4 more
GBenign/Likely benign
GJB6
(S199T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GJB6
(N159S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GJB6
(N113K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
GJB6
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
GJB6
(P70L)
Single nucleotide variant
(missense variant)
GJB6-related disorder
+3 more
GUncertain significance
GJB6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GJB6
(K22fs)
Indel
(frameshift variant)
not specified
+1 more
GUncertain significance
GJB6
(G11R)
Single nucleotide variant
(missense variant)
GJB6-related disorder
+6 more
GPathogenic
GJB6
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GJB6
Duplication
not specified
GUncertain significance
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