ClinVar for MedGen (Select 1382152) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 3519351.	NM_054027.6(ANKH):c.-291CCG[5] GRCh37: Chr5:14871827-14871832 GRCh38: Chr5:14871718-14871723	ANKH	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3519342.	NM_054027.6(ANKH):c.-291CCG[6] GRCh37: Chr5:14871827-14871829 GRCh38: Chr5:14871718-14871720	ANKH	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3519333.	NM_054027.6(ANKH):c.-291CCG[9] GRCh37: Chr5:14871826-14871827 GRCh38: Chr5:14871717-14871718	ANKH	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3519324.	NM_054027.6(ANKH):c.-291CCG[8] GRCh37: Chr5:14871826-14871827 GRCh38: Chr5:14871717-14871718	ANKH	Craniometadiaphyseal dysplasia wormian bone type, Chondrocalcinosis, not provided	Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3519305.	NM_054027.6(ANKH):c.-128_-80delinsCGC GRCh37: Chr5:14871636-14871684 GRCh38: Chr5:14871527-14871575	ANKH, LOC129993725	Craniometadiaphyseal dysplasia wormian bone type, Chondrocalcinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3519296.	NM_054027.6(ANKH):c.-89_-80delinsTC GRCh37: Chr5:14871636-14871645 GRCh38: Chr5:14871527-14871536	ANKH, LOC129993725	Craniometadiaphyseal dysplasia wormian bone type, Chondrocalcinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3519287.	NM_054027.6(ANKH):c.-80_-79insC GRCh37: Chr5:14871635-14871636 GRCh38: Chr5:14871526-14871527	ANKH, LOC129993725	Craniometadiaphyseal dysplasia wormian bone type, Chondrocalcinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3519278.	NM_054027.6(ANKH):c.-80GTCGCCCC[1] GRCh37: Chr5:14871621-14871628 GRCh38: Chr5:14871512-14871519	ANKH, LOC129993725	Craniometaphyseal dysplasia, autosomal dominant, Craniometadiaphyseal dysplasia wormian bone type, not provided, Chondrocalcinosis	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3514919.	NM_054027.6(ANKH):c.416_419dup GRCh37: Chr5:14710886-14710887 GRCh38: Chr5:14710777-14710778	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35148510.	NM_054027.6(ANKH):c.695_698dup GRCh37: Chr5:14710607-14710608 GRCh38: Chr5:14710498-14710499	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35147411.	NM_054027.6(ANKH):c.939_942dup GRCh37: Chr5:14710363-14710364 GRCh38: Chr5:14710254-14710255	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35147012.	NM_054027.6(ANKH):c.*1211del GRCh37: Chr5:14710095 GRCh38: Chr5:14709986	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35146713.	NM_054027.6(ANKH):c.*1318ATTT[1] GRCh37: Chr5:14709981-14709984 GRCh38: Chr5:14709872-14709875	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35146014.	NM_054027.6(ANKH):c.*1887dup GRCh37: Chr5:14709418-14709419 GRCh38: Chr5:14709309-14709310	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35145915.	NM_054027.6(ANKH):c.*1893dup GRCh37: Chr5:14709412-14709413 GRCh38: Chr5:14709303-14709304	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35145816.	NM_054027.6(ANKH):c.1948_1949del GRCh37: Chr5:14709357-14709358 GRCh38: Chr5:14709248-14709249	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35145617.	NM_054027.6(ANKH):c.*2113del GRCh37: Chr5:14709193 GRCh38: Chr5:14709084	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35145218.	NM_054027.6(ANKH):c.*2243C>G GRCh37: Chr5:14709063 GRCh38: Chr5:14708954	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35145019.	NM_054027.6(ANKH):c.*2301del GRCh37: Chr5:14709005 GRCh38: Chr5:14708896	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35144920.	NM_054027.6(ANKH):c.*2301dup GRCh37: Chr5:14709004-14709005 GRCh38: Chr5:14708895-14708896	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35143921.	NM_054027.6(ANKH):c.*2974G>A GRCh37: Chr5:14708332 GRCh38: Chr5:14708223	OTULIN, ANKH	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35143822.	NM_054027.6(ANKH):c.3336_3339del GRCh37: Chr5:14707967-14707970 GRCh38: Chr5:14707858-14707861	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35142523.	NM_054027.6(ANKH):c.*3900del GRCh37: Chr5:14707406 GRCh38: Chr5:14707297	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35142324.	NM_054027.6(ANKH):c.3928_3929del GRCh37: Chr5:14707377-14707378 GRCh38: Chr5:14707268-14707269	OTULIN, ANKH	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35140825.	NM_054027.6(ANKH):c.*5034del GRCh37: Chr5:14706272 GRCh38: Chr5:14706163	ANKH, OTULIN	Craniometadiaphyseal dysplasia wormian bone type, Chondrocalcinosis, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 35140726.	NM_054027.6(ANKH):c.*5136del GRCh37: Chr5:14706170 GRCh38: Chr5:14706061	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35140627.	NM_054027.6(ANKH):c.*5281del GRCh37: Chr5:14706025 GRCh38: Chr5:14705916	OTULIN, ANKH	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35139528.	NM_054027.6(ANKH):c.*5912del GRCh37: Chr5:14705394 GRCh38: Chr5:14705285	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35139429.	NM_054027.6(ANKH):c.*5912dup GRCh37: Chr5:14705393-14705394 GRCh38: Chr5:14705284-14705285	ANKH, OTULIN	Chondrocalcinosis, Craniometadiaphyseal dysplasia wormian bone type	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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Items: 29