ClinVar for MedGen (Select 338945) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340533	NM_054027.6(ANKH):c.1261dup (p.Leu421fs)	ANKH, LOC100130744 +1 more (L421fs)	Duplication (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant	GPathogenic
Select item 3338249	NM_054027.6(ANKH):c.679G>A (p.Glu227Lys)	ANKH (E227K)	Single nucleotide variant (missense variant)	Craniometaphyseal dysplasia, autosomal dominant	GLikely benign
Select item 2627751	NM_054027.6(ANKH):c.314-2A>T	ANKH	Single nucleotide variant (splice acceptor variant)	Craniometaphyseal dysplasia, autosomal dominant	GLikely pathogenic
Select item 1214220	NM_054027.6(ANKH):c.97-13del	ANKH	Deletion (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 1199582	NM_054027.6(ANKH):c.517-18C>G	ANKH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1192432	NM_054027.6(ANKH):c.517-51G>A	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 1192173	NM_054027.6(ANKH):c.822+55G>T	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 988761	NM_054027.6(ANKH):c.830C>T (p.Ala277Val)	ANKH (A277V)	Single nucleotide variant (missense variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907992	NM_054027.6(ANKH):c.*3543G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 907991	NM_054027.6(ANKH):c.*3554C>T	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907853	NM_054027.6(ANKH):c.*4635A>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907800	NM_054027.6(ANKH):c.*5759G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 907799	NM_054027.6(ANKH):c.*5887G>C	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907697	NM_054027.6(ANKH):c.-252C>T	ANKH	Single nucleotide variant (5 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 907249	NM_054027.6(ANKH):c.*96T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907248	NM_054027.6(ANKH):c.*147T>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907247	NM_054027.6(ANKH):c.*256G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907183	NM_054027.6(ANKH):c.*819T>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 907063	NM_054027.6(ANKH):c.*1894T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 907008	NM_054027.6(ANKH):c.*2674C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906864	NM_054027.6(ANKH):c.*4777C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906863	NM_054027.6(ANKH):c.*4811A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906862	NM_054027.6(ANKH):c.*4982T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906804	NM_054027.6(ANKH):c.*5899A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906741	NM_054027.6(ANKH):c.*6226G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 906740	NM_054027.6(ANKH):c.*6235G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906739	NM_054027.6(ANKH):c.*6368G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906666	NM_054027.6(ANKH):c.97-9C>T	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906300	NM_054027.6(ANKH):c.1304C>T (p.Ala435Val)	ANKH, LOC100130744 +1 more (A435V)	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 906253	NM_054027.6(ANKH):c.*309G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906192	NM_054027.6(ANKH):c.*833T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906122	NM_054027.6(ANKH):c.*1372C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 906121	NM_054027.6(ANKH):c.*1423G>A	OTULIN, ANKH	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906120	NM_054027.6(ANKH):c.*1451T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 906056	NM_054027.6(ANKH):c.*1988C>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 906055	NM_054027.6(ANKH):c.*2017G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905985	NM_054027.6(ANKH):c.*2674C>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905922	NM_054027.6(ANKH):c.*3562G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905921	NM_054027.6(ANKH):c.*3567G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905793	NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp)	ANKH, LOC100130744 +1 more (R453W)	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 905792	NM_054027.6(ANKH):c.1365+9G>A	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 905791	NM_054027.6(ANKH):c.1365+13C>T	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +2 more	GBenign
Select item 905680	NM_054027.6(ANKH):c.*999T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905609	NM_054027.6(ANKH):c.*1470G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905608	NM_054027.6(ANKH):c.*1490T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905607	NM_054027.6(ANKH):c.*1646A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905474	NM_054027.6(ANKH):c.*2959T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905473	NM_054027.6(ANKH):c.*3133C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905472	NM_054027.6(ANKH):c.*3172A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905264	NM_054027.6(ANKH):c.*5062A>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905263	NM_054027.6(ANKH):c.*5518C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign
Select item 905262	NM_054027.6(ANKH):c.*5579G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905215	NM_054027.6(ANKH):c.*5900T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 905214	NM_054027.6(ANKH):c.*5906T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905213	NM_054027.6(ANKH):c.*5930C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905082	NM_054027.6(ANKH):c.156C>T (p.Tyr52=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 905081	NM_054027.6(ANKH):c.282G>A (p.Gly94=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +2 more	GBenign/Likely benign
Select item 904824	NM_054027.6(ANKH):c.897G>A (p.Val299=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904823	NM_054027.6(ANKH):c.915+14C>T	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 904756	NM_054027.6(ANKH):c.*2262G>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904755	NM_054027.6(ANKH):c.*2393A>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904682	NM_054027.6(ANKH):c.*3224T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904681	NM_054027.6(ANKH):c.*3359T>G	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904680	NM_054027.6(ANKH):c.*3509G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904617	NM_054027.6(ANKH):c.*3752G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904542	NM_054027.6(ANKH):c.*4351C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 904541	NM_054027.6(ANKH):c.*4428T>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +2 more	GBenign
Select item 904540	NM_054027.6(ANKH):c.*4610C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904415	NM_054027.6(ANKH):c.*5980C>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904414	NM_054027.6(ANKH):c.*6006A>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 904225	NM_054027.6(ANKH):c.600C>T (p.Gly200=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 904042	NM_054027.6(ANKH):c.937G>A (p.Val313Met)	ANKH (V313M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 904041	NM_054027.6(ANKH):c.1000C>G (p.Leu334Val)	ANKH (L334V)	Single nucleotide variant (missense variant)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 903973	NM_054027.6(ANKH):c.1021G>A (p.Val341Met)	ANKH (V341M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 903904	NM_054027.6(ANKH):c.*30C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 903843	NM_054027.6(ANKH):c.*700G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 903766	NM_054027.6(ANKH):c.*1137A>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 903765	NM_054027.6(ANKH):c.*1192G>C	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GBenign
Select item 903687	NM_054027.6(ANKH):c.*1753C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 903686	NM_054027.6(ANKH):c.*1754G>A	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 903685	NM_054027.6(ANKH):c.*1772C>T	ANKH, OTULIN	Single nucleotide variant (3 prime UTR variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 775071	NM_054027.6(ANKH):c.987C>T (p.Phe329=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 769645	NM_054027.6(ANKH):c.369G>A (p.Ser123=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 743006	NM_054027.6(ANKH):c.1266-6C>T	OTULIN, ANKH +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GBenign/Likely benign
Select item 351931	NM_054027.6(ANKH):c.-87T>A	ANKH, LOC129993725	Single nucleotide variant (5 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +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 351926	NM_054027.6(ANKH):c.-4G>A	ANKH	Single nucleotide variant (5 prime UTR variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 351925	NM_054027.6(ANKH):c.39G>C (p.Leu13=)	ANKH	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 351561	NM_054027.6(ANKH):c.258C>T (p.Ala86=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 351560	NM_054027.6(ANKH):c.288C>T (p.Ile96=)	ANKH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 351559	NM_054027.6(ANKH):c.294C>T (p.Ala98=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +2 more	GBenign
Select item 351558	NM_054027.6(ANKH):c.313+9G>A	ANKH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 351557	NM_054027.6(ANKH):c.313+12G>A	ANKH	Single nucleotide variant (intron variant)	Chondrocalcinosis 2 +1 more	GUncertain significance
Select item 351556	NM_054027.6(ANKH):c.314-13C>T	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351555	NM_054027.6(ANKH):c.405C>T (p.Leu135=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign
Select item 351554	NM_054027.6(ANKH):c.432+13G>A	ANKH	Single nucleotide variant (intron variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351544	NM_054027.6(ANKH):c.560G>A (p.Arg187Gln)	ANKH (R187Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 351543	NM_054027.6(ANKH):c.585C>T (p.Leu195=)	ANKH	Single nucleotide variant (synonymous variant)	Chondrocalcinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 351542	NM_054027.6(ANKH):c.681G>A (p.Glu227=)	ANKH	Single nucleotide variant (synonymous variant)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 351529	NM_054027.6(ANKH):c.688-14G>A	ANKH	Single nucleotide variant (intron variant)	Chondrocalcinosis 2 +2 more	GBenign

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