ClinVar for MedGen (Select 1841003) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920786	NM_015103.3(PLXND1):c.2870C>T (p.Pro957Leu)	PLXND1 (P957L)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 9	GUncertain significance
Select item 2689791	NM_015103.3(PLXND1):c.2240C>T (p.Thr747Met)	PLXND1 (T747M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2445607	NM_015103.3(PLXND1):c.880_881del (p.Gln294fs)	PLXND1 (Q294fs)	Microsatellite (frameshift variant)	Congenital heart defects, multiple types, 9	GPathogenic
Select item 2445606	NM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)	PLXND1 (I911M)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 9	GPathogenic
Select item 2445605	NM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)	PLXND1 (S218C)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 9	GPathogenic
Select item 2445604	NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)	LOC112872301, PLXND1 (I1775F)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 9	GPathogenic
Select item 2445603	NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)	PLXND1	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 9	GPathogenic
Select item 773447	NM_015103.3(PLXND1):c.2263A>G (p.Thr755Ala)	PLXND1 (T755A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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