Related gene-specific medical variations for Gene (Select 221806) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2332850	NM_001135924.3(VWDE):c.11G>C (p.Gly4Ala)	LOC123924902, VWDE (G4A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2273493	NM_001135924.3(VWDE):c.37A>G (p.Met13Val)	LOC123924902, VWDE (M13V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 441814	GRCh37/hg19 7p21.3(chr7:12277152-12493390)x1	VWDE	Copy number loss	See cases	GUncertain significance
Select item 393861	GRCh37/hg19 7p21.3(chr7:12376699-12428489)x3	VWDE	Copy number gain	See cases	GLikely benign
Select item 157040	NM_001135924.3(VWDE):c.541+441_879+501del	VWDE	Deletion (splice acceptor variant +1 more)	Preeclampsia	Gnot provided

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