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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKH
Microsatellite
(5 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH
Microsatellite
(5 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH
Microsatellite
(5 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH
Microsatellite
(5 prime UTR variant)
Chondrocalcinosis
+2 more
GLikely benign
ANKH, LOC129993725
Indel
(5 prime UTR variant)
Craniometadiaphyseal dysplasia wormian bone type
+1 more
GUncertain significance
ANKH, LOC129993725
Indel
(5 prime UTR variant)
Craniometadiaphyseal dysplasia wormian bone type
+1 more
GUncertain significance
ANKH, LOC129993725
Insertion
(5 prime UTR variant)
Craniometadiaphyseal dysplasia wormian bone type
+1 more
GUncertain significance
ANKH, LOC129993725
Microsatellite
(5 prime UTR variant)
Craniometaphyseal dysplasia, autosomal dominant
+3 more
GBenign
ANKH, OTULIN
Duplication
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GLikely benign
ANKH, OTULIN
Duplication
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GLikely benign
ANKH, OTULIN
Duplication
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GBenign
ANKH, OTULIN
Deletion
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH, OTULIN
Microsatellite
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH, OTULIN
Duplication
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GLikely benign
ANKH, OTULIN
Duplication
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GBenign
ANKH, OTULIN
Deletion
(3 prime UTR variant)
Craniometadiaphyseal dysplasia wormian bone type
+1 more
GLikely benign
ANKH, OTULIN
Deletion
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH, OTULIN
Deletion
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH, OTULIN
Duplication
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GBenign
ANKH, OTULIN
Single nucleotide variant
(3 prime UTR variant)
Craniometadiaphyseal dysplasia wormian bone type
+1 more
GLikely benign
OTULIN, ANKH
Deletion
(3 prime UTR variant)
Craniometadiaphyseal dysplasia wormian bone type
+1 more
GLikely benign
OTULIN, ANKH
Deletion
(3 prime UTR variant)
Craniometadiaphyseal dysplasia wormian bone type
+1 more
GBenign
OTULIN, ANKH
Deletion
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GBenign
ANKH, OTULIN
Deletion
(3 prime UTR variant)
Chondrocalcinosis
+2 more
GConflicting classifications of pathogenicity
ANKH, OTULIN
Deletion
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GLikely benign
OTULIN, ANKH
Deletion
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GBenign
ANKH, OTULIN
Deletion
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
ANKH, OTULIN
Duplication
(3 prime UTR variant)
Chondrocalcinosis
+1 more
GUncertain significance
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