C1852502[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5201	NM_054027.6(ANKH):c.1172T>C (p.Leu391Pro)	LOC100130744, ANKH +1 more (L391P)	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant	GPathogenic
Select item 5192	NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg)	ANKH, LOC100130744 +1 more (G389R)	Single nucleotide variant (non-coding transcript variant +1 more)	Chondrocalcinosis 2 +1 more	GPathogenic
Select item 5193	NM_054027.6(ANKH):c.1142-4A>G	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 5191	NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del)	ANKH (F377del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
Select item 5194	NM_054027.6(ANKH):c.1124_1126del (p.Ser375del)	ANKH (S375del)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5200	NM_054027.6(ANKH):c.1015T>C (p.Cys339Arg)	ANKH (C339R)	Single nucleotide variant (missense variant)	Craniometaphyseal dysplasia, autosomal dominant	GPathogenic
Select item 5202	NM_054027.6(ANKH):c.1001T>G (p.Leu334Arg)	ANKH (L334R)	Single nucleotide variant (missense variant)	Craniometaphyseal dysplasia, autosomal dominant	GPathogenic

ClinVar