ClinVar for MedGen (Select 338945) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26277511.	NM_054027.6(ANKH):c.314-2A>T GRCh37: Chr5:14758709 GRCh38: Chr5:14758600	ANKH		Craniometaphyseal dysplasia, autosomal dominant	Likely pathogenic (Oct 31, 2023)	criteria provided, single submitter
Select item 12142202.	NM_054027.6(ANKH):c.97-13del GRCh37: Chr5:14769313 GRCh38: Chr5:14769204	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant	Benign/Likely benign (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 11995823.	NM_054027.6(ANKH):c.517-18C>G GRCh37: Chr5:14751366 GRCh38: Chr5:14751257	ANKH		Craniometaphyseal dysplasia, autosomal dominant, not provided	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11924324.	NM_054027.6(ANKH):c.517-51G>A GRCh37: Chr5:14751399 GRCh38: Chr5:14751290	ANKH		Craniometaphyseal dysplasia, autosomal dominant, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11921735.	NM_054027.6(ANKH):c.822+55G>T GRCh37: Chr5:14749226 GRCh38: Chr5:14749117	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant	Benign/Likely benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9887616.	NM_054027.6(ANKH):c.830C>T (p.Ala277Val) GRCh37: Chr5:14746064 GRCh38: Chr5:14745955	ANKH	A277V	Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jul 10, 2020)	no assertion criteria provided
Select item 9079927.	NM_054027.6(ANKH):c.*3543G>T GRCh37: Chr5:14707763 GRCh38: Chr5:14707654	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 9079918.	NM_054027.6(ANKH):c.*3554C>T GRCh37: Chr5:14707752 GRCh38: Chr5:14707643	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9078539.	NM_054027.6(ANKH):c.*4635A>C GRCh37: Chr5:14706671 GRCh38: Chr5:14706562	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90780010.	NM_054027.6(ANKH):c.*5759G>C GRCh37: Chr5:14705547 GRCh38: Chr5:14705438	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90779911.	NM_054027.6(ANKH):c.*5887G>C GRCh37: Chr5:14705419 GRCh38: Chr5:14705310	OTULIN, ANKH		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90769712.	NM_054027.6(ANKH):c.-252C>T GRCh37: Chr5:14871808 GRCh38: Chr5:14871699	ANKH		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90724913.	NM_054027.6(ANKH):c.*96T>C GRCh37: Chr5:14711210 GRCh38: Chr5:14711101	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90724814.	NM_054027.6(ANKH):c.*147T>A GRCh37: Chr5:14711159 GRCh38: Chr5:14711050	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90724715.	NM_054027.6(ANKH):c.*256G>A GRCh37: Chr5:14711050 GRCh38: Chr5:14710941	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90718316.	NM_054027.6(ANKH):c.*819T>G GRCh37: Chr5:14710487 GRCh38: Chr5:14710378	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90706317.	NM_054027.6(ANKH):c.*1894T>C GRCh37: Chr5:14709412 GRCh38: Chr5:14709303	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90700818.	NM_054027.6(ANKH):c.*2674C>A GRCh37: Chr5:14708632 GRCh38: Chr5:14708523	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90686419.	NM_054027.6(ANKH):c.*4777C>A GRCh37: Chr5:14706529 GRCh38: Chr5:14706420	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90686320.	NM_054027.6(ANKH):c.*4811A>G GRCh37: Chr5:14706495 GRCh38: Chr5:14706386	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90686221.	NM_054027.6(ANKH):c.*4982T>C GRCh37: Chr5:14706324 GRCh38: Chr5:14706215	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90680422.	NM_054027.6(ANKH):c.*5899A>G GRCh37: Chr5:14705407 GRCh38: Chr5:14705298	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90674123.	NM_054027.6(ANKH):c.*6226G>A GRCh37: Chr5:14705080 GRCh38: Chr5:14704971	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90674024.	NM_054027.6(ANKH):c.*6235G>A GRCh37: Chr5:14705071 GRCh38: Chr5:14704962	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90673925.	NM_054027.6(ANKH):c.*6368G>A GRCh37: Chr5:14704938 GRCh38: Chr5:14704829	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90666626.	NM_054027.6(ANKH):c.97-9C>T GRCh37: Chr5:14769309 GRCh38: Chr5:14769200	ANKH		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90630027.	NM_054027.6(ANKH):c.1304C>T (p.Ala435Val) GRCh37: Chr5:14713044 GRCh38: Chr5:14712935	ANKH, LOC100130744, OTULIN	A435V	not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 90625328.	NM_054027.6(ANKH):c.*309G>C GRCh37: Chr5:14710997 GRCh38: Chr5:14710888	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90619229.	NM_054027.6(ANKH):c.*833T>C GRCh37: Chr5:14710473 GRCh38: Chr5:14710364	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90612230.	NM_054027.6(ANKH):c.*1372C>A GRCh37: Chr5:14709934 GRCh38: Chr5:14709825	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90612131.	NM_054027.6(ANKH):c.*1423G>A GRCh37: Chr5:14709883 GRCh38: Chr5:14709774	OTULIN, ANKH		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90612032.	NM_054027.6(ANKH):c.*1451T>C GRCh37: Chr5:14709855 GRCh38: Chr5:14709746	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90605633.	NM_054027.6(ANKH):c.*1988C>G GRCh37: Chr5:14709318 GRCh38: Chr5:14709209	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90605534.	NM_054027.6(ANKH):c.*2017G>A GRCh37: Chr5:14709289 GRCh38: Chr5:14709180	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90598535.	NM_054027.6(ANKH):c.*2674C>G GRCh37: Chr5:14708632 GRCh38: Chr5:14708523	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90592236.	NM_054027.6(ANKH):c.*3562G>T GRCh37: Chr5:14707744 GRCh38: Chr5:14707635	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90592137.	NM_054027.6(ANKH):c.*3567G>C GRCh37: Chr5:14707739 GRCh38: Chr5:14707630	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90579338.	NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp) GRCh37: Chr5:14712991 GRCh38: Chr5:14712882	ANKH, LOC100130744, OTULIN	R453W	Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2, not provided	Conflicting interpretations of pathogenicity (Apr 8, 2022)	criteria provided, conflicting interpretations
Select item 90579239.	NM_054027.6(ANKH):c.1365+9G>A GRCh37: Chr5:14712974 GRCh38: Chr5:14712865	OTULIN, ANKH, LOC100130744		Craniometaphyseal dysplasia, autosomal dominant, not provided, Chondrocalcinosis 2	Benign/Likely benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90579140.	NM_054027.6(ANKH):c.1365+13C>T GRCh37: Chr5:14712970 GRCh38: Chr5:14712861	ANKH, LOC100130744, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2, not provided	Benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90568041.	NM_054027.6(ANKH):c.*999T>C GRCh37: Chr5:14710307 GRCh38: Chr5:14710198	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90560942.	NM_054027.6(ANKH):c.*1470G>A GRCh37: Chr5:14709836 GRCh38: Chr5:14709727	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90560843.	NM_054027.6(ANKH):c.*1490T>C GRCh37: Chr5:14709816 GRCh38: Chr5:14709707	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90560744.	NM_054027.6(ANKH):c.*1646A>G GRCh37: Chr5:14709660 GRCh38: Chr5:14709551	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90547445.	NM_054027.6(ANKH):c.*2959T>C GRCh37: Chr5:14708347 GRCh38: Chr5:14708238	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90547346.	NM_054027.6(ANKH):c.*3133C>A GRCh37: Chr5:14708173 GRCh38: Chr5:14708064	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90547247.	NM_054027.6(ANKH):c.*3172A>G GRCh37: Chr5:14708134 GRCh38: Chr5:14708025	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90526448.	NM_054027.6(ANKH):c.*5062A>G GRCh37: Chr5:14706244 GRCh38: Chr5:14706135	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90526349.	NM_054027.6(ANKH):c.*5518C>T GRCh37: Chr5:14705788 GRCh38: Chr5:14705679	OTULIN, ANKH		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90526250.	NM_054027.6(ANKH):c.*5579G>A GRCh37: Chr5:14705727 GRCh38: Chr5:14705618	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90521551.	NM_054027.6(ANKH):c.*5900T>C GRCh37: Chr5:14705406 GRCh38: Chr5:14705297	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90521452.	NM_054027.6(ANKH):c.*5906T>C GRCh37: Chr5:14705400 GRCh38: Chr5:14705291	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90521353.	NM_054027.6(ANKH):c.*5930C>T GRCh37: Chr5:14705376 GRCh38: Chr5:14705267	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90508254.	NM_054027.6(ANKH):c.156C>T (p.Tyr52=) GRCh37: Chr5:14769241 GRCh38: Chr5:14769132	ANKH		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90508155.	NM_054027.6(ANKH):c.282G>A (p.Gly94=) GRCh37: Chr5:14769115 GRCh38: Chr5:14769006	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Benign/Likely benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90482456.	NM_054027.6(ANKH):c.897G>A (p.Val299=) GRCh37: Chr5:14745997 GRCh38: Chr5:14745888	ANKH		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90482357.	NM_054027.6(ANKH):c.915+14C>T GRCh37: Chr5:14745965 GRCh38: Chr5:14745856	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign/Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90475658.	NM_054027.6(ANKH):c.*2262G>T GRCh37: Chr5:14709044 GRCh38: Chr5:14708935	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90475559.	NM_054027.6(ANKH):c.*2393A>T GRCh37: Chr5:14708913 GRCh38: Chr5:14708804	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90468260.	NM_054027.6(ANKH):c.*3224T>C GRCh37: Chr5:14708082 GRCh38: Chr5:14707973	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90468161.	NM_054027.6(ANKH):c.*3359T>G GRCh37: Chr5:14707947 GRCh38: Chr5:14707838	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90468062.	NM_054027.6(ANKH):c.*3509G>C GRCh37: Chr5:14707797 GRCh38: Chr5:14707688	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90461763.	NM_054027.6(ANKH):c.*3752G>A GRCh37: Chr5:14707554 GRCh38: Chr5:14707445	ANKH, OTULIN		not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90454264.	NM_054027.6(ANKH):c.*4351C>T GRCh37: Chr5:14706955 GRCh38: Chr5:14706846	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90454165.	NM_054027.6(ANKH):c.*4428T>C GRCh37: Chr5:14706878 GRCh38: Chr5:14706769	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90454066.	NM_054027.6(ANKH):c.*4610C>A GRCh37: Chr5:14706696 GRCh38: Chr5:14706587	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90441567.	NM_054027.6(ANKH):c.*5980C>A GRCh37: Chr5:14705326 GRCh38: Chr5:14705217	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90441468.	NM_054027.6(ANKH):c.*6006A>T GRCh37: Chr5:14705300 GRCh38: Chr5:14705191	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90422569.	NM_054027.6(ANKH):c.600C>T (p.Gly200=) GRCh37: Chr5:14751265 GRCh38: Chr5:14751156	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Conflicting interpretations of pathogenicity (Oct 11, 2021)	criteria provided, conflicting interpretations
Select item 90404270.	NM_054027.6(ANKH):c.937G>A (p.Val313Met) GRCh37: Chr5:14742010 GRCh38: Chr5:14741901	ANKH	V313M	Inborn genetic diseases, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90404171.	NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) GRCh37: Chr5:14741947 GRCh38: Chr5:14741838	ANKH	L334V	not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Conflicting interpretations of pathogenicity (Sep 26, 2022)	criteria provided, conflicting interpretations
Select item 90397372.	NM_054027.6(ANKH):c.1021G>A (p.Val341Met) GRCh37: Chr5:14716935 GRCh38: Chr5:14716826	ANKH	V341M	not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 90390473.	NM_054027.6(ANKH):c.*30C>T GRCh37: Chr5:14711276 GRCh38: Chr5:14711167	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90384374.	NM_054027.6(ANKH):c.*700G>A GRCh37: Chr5:14710606 GRCh38: Chr5:14710497	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90376675.	NM_054027.6(ANKH):c.*1137A>C GRCh37: Chr5:14710169 GRCh38: Chr5:14710060	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90376576.	NM_054027.6(ANKH):c.*1192G>C GRCh37: Chr5:14710114 GRCh38: Chr5:14710005	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90368777.	NM_054027.6(ANKH):c.*1753C>T GRCh37: Chr5:14709553 GRCh38: Chr5:14709444	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90368678.	NM_054027.6(ANKH):c.*1754G>A GRCh37: Chr5:14709552 GRCh38: Chr5:14709443	ANKH, OTULIN		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90368579.	NM_054027.6(ANKH):c.*1772C>T GRCh37: Chr5:14709534 GRCh38: Chr5:14709425	ANKH, OTULIN		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 77507180.	NM_054027.6(ANKH):c.987C>T (p.Phe329=) GRCh37: Chr5:14741960 GRCh38: Chr5:14741851	ANKH		Craniometaphyseal dysplasia, autosomal dominant, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76964581.	NM_054027.6(ANKH):c.369G>A (p.Ser123=) GRCh37: Chr5:14758652 GRCh38: Chr5:14758543	ANKH		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2, not provided	Benign/Likely benign (Oct 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74300682.	NM_054027.6(ANKH):c.1266-6C>T GRCh37: Chr5:14713088 GRCh38: Chr5:14712979	OTULIN, ANKH, LOC100130744		Craniometaphyseal dysplasia, autosomal dominant, not provided	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35193183.	NM_054027.6(ANKH):c.-87T>A GRCh37: Chr5:14871643 GRCh38: Chr5:14871534	ANKH, LOC129993725		Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35192784.	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 35192685.	NM_054027.6(ANKH):c.-4G>A GRCh37: Chr5:14871560 GRCh38: Chr5:14871451	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35192586.	NM_054027.6(ANKH):c.39G>C (p.Leu13=) GRCh37: Chr5:14871518 GRCh38: Chr5:14871409	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Likely benign (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35156187.	NM_054027.6(ANKH):c.258C>T (p.Ala86=) GRCh37: Chr5:14769139 GRCh38: Chr5:14769030	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35156088.	NM_054027.6(ANKH):c.288C>T (p.Ile96=) GRCh37: Chr5:14769109 GRCh38: Chr5:14769000	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35155989.	NM_054027.6(ANKH):c.294C>T (p.Ala98=) GRCh37: Chr5:14769103 GRCh38: Chr5:14768994	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35155890.	NM_054027.6(ANKH):c.313+9G>A GRCh37: Chr5:14769075 GRCh38: Chr5:14768966	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35155791.	NM_054027.6(ANKH):c.313+12G>A GRCh37: Chr5:14769072 GRCh38: Chr5:14768963	ANKH		Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35155692.	NM_054027.6(ANKH):c.314-13C>T GRCh37: Chr5:14758720 GRCh38: Chr5:14758611	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign/Likely benign (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35155593.	NM_054027.6(ANKH):c.405C>T (p.Leu135=) GRCh37: Chr5:14758616 GRCh38: Chr5:14758507	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35155494.	NM_054027.6(ANKH):c.432+13G>A GRCh37: Chr5:14758576 GRCh38: Chr5:14758467	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35154495.	NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) GRCh37: Chr5:14751305 GRCh38: Chr5:14751196	ANKH	R187Q	Craniometaphyseal dysplasia, autosomal dominant, not specified, not provided, Chondrocalcinosis 2	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35154396.	NM_054027.6(ANKH):c.585C>T (p.Leu195=) GRCh37: Chr5:14751280 GRCh38: Chr5:14751171	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 35154297.	NM_054027.6(ANKH):c.681G>A (p.Glu227=) GRCh37: Chr5:14751184 GRCh38: Chr5:14751075	ANKH		not provided, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35152998.	NM_054027.6(ANKH):c.688-14G>A GRCh37: Chr5:14749429 GRCh38: Chr5:14749320	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2, Chondrocalcinosis 2, Craniometaphyseal dysplasia, autosomal dominant	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35151299.	NM_054027.6(ANKH):c.963A>G (p.Ala321=) GRCh37: Chr5:14741984 GRCh38: Chr5:14741875	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 351511100.	NM_054027.6(ANKH):c.1011+15T>G GRCh37: Chr5:14741921 GRCh38: Chr5:14741812	ANKH		not provided, Craniometaphyseal dysplasia, autosomal dominant, Chondrocalcinosis 2	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts

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