"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC100130744"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 351499	NM_054027.6(ANKH):c.1338C>T (p.Ile446=)	ANKH, LOC100130744 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +2 more	GBenign/Likely benign
Select item 283343	NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)	ANKH, LOC100130744 +1 more (A413T)	Single nucleotide variant (non-coding transcript variant +1 more)	Craniometaphyseal dysplasia, autosomal dominant +3 more	GBenign/Likely benign