ClinVar for MedGen (Select 154303) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 351935	NM_054027.6(ANKH):c.-291CCG[5]	ANKH	Microsatellite (5 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 351934	NM_054027.6(ANKH):c.-291CCG[6]	ANKH	Microsatellite (5 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +2 more	GUncertain significance
Select item 351933	NM_054027.6(ANKH):c.-291CCG[9]	ANKH	Microsatellite (5 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 351932	NM_054027.6(ANKH):c.-291CCG[8]	ANKH	Microsatellite (5 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +2 more	GLikely benign
Select item 351930	NM_054027.6(ANKH):c.-128_-80delinsCGC	ANKH, LOC129993725	Indel (5 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GUncertain significance
Select item 351929	NM_054027.6(ANKH):c.-89_-80delinsTC	ANKH, LOC129993725	Indel (5 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GUncertain significance
Select item 351928	NM_054027.6(ANKH):c.-80_-79insC	ANKH, LOC129993725	Insertion (5 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GUncertain significance
Select item 351927	NM_054027.6(ANKH):c.-80GTCGCCCC[1]	ANKH, LOC129993725	Microsatellite (5 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +3 more	GBenign
Select item 351491	NM_054027.6(ANKH):c.416_419dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GLikely benign
Select item 351485	NM_054027.6(ANKH):c.695_698dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GLikely benign
Select item 351474	NM_054027.6(ANKH):c.939_942dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351470	NM_054027.6(ANKH):c.*1211del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 351467	NM_054027.6(ANKH):c.*1318ATTT[1]	ANKH, OTULIN	Microsatellite (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 351460	NM_054027.6(ANKH):c.*1887dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GLikely benign
Select item 351459	NM_054027.6(ANKH):c.*1893dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351458	NM_054027.6(ANKH):c.1948_1949del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GLikely benign
Select item 351456	NM_054027.6(ANKH):c.*2113del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +2 more	GUncertain significance
Select item 351452	NM_054027.6(ANKH):c.*2243C>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 351450	NM_054027.6(ANKH):c.*2301del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance
Select item 351449	NM_054027.6(ANKH):c.*2301dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351439	NM_054027.6(ANKH):c.*2974G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GLikely benign
Select item 351438	NM_054027.6(ANKH):c.3336_3339del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GLikely benign
Select item 351425	NM_054027.6(ANKH):c.*3900del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Craniometadiaphyseal dysplasia wormian bone type +1 more	GBenign
Select item 351423	NM_054027.6(ANKH):c.3928_3929del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351408	NM_054027.6(ANKH):c.*5034del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +2 more	GConflicting classifications of pathogenicity
Select item 351407	NM_054027.6(ANKH):c.*5136del	ANKH, OTULIN	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GLikely benign
Select item 351406	NM_054027.6(ANKH):c.*5281del	OTULIN, ANKH	Deletion (3 prime UTR variant)	Chondrocalcinosis +1 more	GBenign
Select item 351395	NM_054027.6(ANKH):c.*5912del	ANKH, OTULIN	Deletion (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 351394	NM_054027.6(ANKH):c.*5912dup	ANKH, OTULIN	Duplication (3 prime UTR variant)	Chondrocalcinosis +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 29