ClinVar for MedGen (Select 82713) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571627	NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)	NAV3 (Q222*)	Single nucleotide variant (nonsense)	Broad eyebrow +6 more	GUncertain significance
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	ADAMTSL1, AK3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 992743	NM_001379081.2(FREM1):c.1232C>A (p.Thr411Lys)	FREM1 (T411K +1 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly	GUncertain significance

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