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Items: 1 to 100 of 155

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANO6
(N7S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
Deletion
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Deletion
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
(I14F +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ANO6
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(P30L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANO6
(N54S +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO6
(D58E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
(N45K +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(I51N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ANO6
(N71fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
ANO6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(Y88* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(Q109R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO6
Deletion
(intron variant)
not provided
+1 more
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(A110T +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ANO6
(L133F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANO6
(Y118C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
(I128T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(I156V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANO6
(E201* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ANO6
(R172Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
(D193Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
(I178V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO6
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ANO6
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ANO6
(R235C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(R265Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(Y286C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
(M329V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO6
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
(K326R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(E347K +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
(K351* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO6
(R388C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
(R399H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANO6
(E405Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANO6
(R407Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO6
(V429I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
(V411L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(splice acceptor variant)
ANO6-related disorder
+2 more
GPathogenic
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(Y465C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANO6
(K487E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ANO6
(G483E +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO6
(I511T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ANO6
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO6
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ANO6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO6
(M543I +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO6
(Y545* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ANO6
(S586A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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