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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKH, OTULIN
(E480V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANKH, LOC100130744
+1 more
(A413T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+4 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(intron variant)
Craniometaphyseal dysplasia, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
ANKH
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ANKH
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ANKH
(R187Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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