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Links from MedGen

Items: 1 to 100 of 209

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKH
Single nucleotide variant
(splice acceptor variant)
Craniometaphyseal dysplasia, autosomal dominant
GLikely pathogenic
ANKH
Deletion
(intron variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ANKH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ANKH
(A277V)
Single nucleotide variant
(missense variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GBenign
OTULIN, ANKH
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GBenign
OTULIN, ANKH
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH
Single nucleotide variant
(5 prime UTR variant)
Chondrocalcinosis 2
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH
Single nucleotide variant
(intron variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, LOC100130744
+1 more
(A435V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
OTULIN, ANKH
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, LOC100130744
+1 more
(R453W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Craniometaphyseal dysplasia, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
ANKH, LOC100130744
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Craniometaphyseal dysplasia, autosomal dominant
+2 more
GBenign/Likely benign
ANKH, LOC100130744
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH
Single nucleotide variant
(synonymous variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(synonymous variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH
Single nucleotide variant
(synonymous variant)
Chondrocalcinosis 2
+2 more
GConflicting classifications of pathogenicity
ANKH
(V313M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ANKH
(L334V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ANKH
(V341M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH
Single nucleotide variant
(synonymous variant)
ANKH-related disorder
+2 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(synonymous variant)
ANKH-related disorder
+3 more
GBenign/Likely benign
ANKH, LOC100130744
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Craniometaphyseal dysplasia, autosomal dominant
+2 more
GBenign/Likely benign
ANKH, LOC129993725
Single nucleotide variant
(5 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+1 more
GUncertain significance
ANKH, LOC129993725
Microsatellite
(5 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+3 more
GBenign
ANKH
Single nucleotide variant
(5 prime UTR variant)
Chondrocalcinosis 2
+2 more
GBenign
ANKH
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ANKH
Single nucleotide variant
(synonymous variant)
Chondrocalcinosis 2
+2 more
GBenign
ANKH
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(synonymous variant)
Chondrocalcinosis 2
+2 more
GBenign
ANKH
Single nucleotide variant
(intron variant)
Chondrocalcinosis 2
+2 more
GBenign
ANKH
Single nucleotide variant
(intron variant)
Chondrocalcinosis 2
+1 more
GUncertain significance
ANKH
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(synonymous variant)
Chondrocalcinosis 2
+2 more
GBenign
ANKH
Single nucleotide variant
(intron variant)
Craniometaphyseal dysplasia, autosomal dominant
+2 more
GBenign/Likely benign
ANKH
(R187Q)
Single nucleotide variant
(missense variant)
Craniometaphyseal dysplasia, autosomal dominant
+4 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(synonymous variant)
Craniometaphyseal dysplasia, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
ANKH
Single nucleotide variant
(synonymous variant)
Chondrocalcinosis 2
+2 more
GBenign/Likely benign
ANKH
Single nucleotide variant
(intron variant)
Chondrocalcinosis 2
+2 more
GBenign
ANKH
Single nucleotide variant
(synonymous variant)
Chondrocalcinosis 2
+2 more
GBenign
ANKH
Single nucleotide variant
(intron variant)
Craniometaphyseal dysplasia, autosomal dominant
+2 more
GBenign
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