"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827789	NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln)	VWF (R1527Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GConflicting classifications of pathogenicity
Select item 296	NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	VWF (R854Q)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic

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