ClinVar for MedGen (Select 1840915) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498195	NM_018676.4(THSD1):c.892G>T (p.Glu298Ter)	THSD1 (E298*)	Single nucleotide variant (nonsense)	Lymphatic malformation 13	GPathogenic
Select item 2443746	NM_018676.4(THSD1):c.1322_1329del (p.Arg441fs)	THSD1 (R388fs +1 more)	Deletion (frameshift variant)	Lymphatic malformation 13	GPathogenic
Select item 2443745	NM_018676.4(THSD1):c.1561C>T (p.Gln521Ter)	THSD1 (Q521* +1 more)	Single nucleotide variant (nonsense)	Lymphatic malformation 13	GPathogenic
Select item 1804813	NM_018676.4(THSD1):c.1996C>T (p.Arg666Ter)	THSD1 (R613* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 190465	NM_018676.4(THSD1):c.670C>T (p.Arg224Ter)	THSD1 (R224*)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GLikely pathogenic
Select item 190456	NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr)	THSD1 (C206Y)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis +1 more	GLikely pathogenic

ClinVar