ClinVar for OMIM (Select 300841) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16421	NM_000138.5(FBN1):c.3410G>C (p.Arg1137Pro)	FBN1 (R1137P)	Single nucleotide variant (missense variant)	Marfan syndrome, severe classic	GPathogenic
Select item 10938	NG_009065.1:g.16964_16965insLINE1	CYBB	Insertion	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 313	NM_000552.5(VWF):c.2411G>T (p.Cys804Phe)	VWF (C804F)	Single nucleotide variant (missense variant)	von Willebrand disease type 2N	GPathogenic
Select item 312	NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys)	VWF (Y795C)	Single nucleotide variant (missense variant)	von Willebrand disease type 2N	GPathogenic
Select item 311	NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe)	VWF (S1285F)	Single nucleotide variant (missense variant)	von Willebrand disease type 2M	GLikely pathogenicFDA Recognized database
Select item 296	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF (R854Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2N	GPathogenicFDA Recognized database
Select item 294	NM_000552.5(VWF):c.2372C>T (p.Thr791Met)	VWF (T791M)	Single nucleotide variant (missense variant)	von Willebrand disease type 2N	GPathogenicFDA Recognized database

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