ClinVar for MedGen (Select 904613) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285358	NM_004134.7(HSPA9):c.717-17del	HSPA9	Deletion (intron variant)	Even-plus syndrome	GBenign
Select item 1285357	NM_004134.7(HSPA9):c.1933C>T (p.Leu645=)	HSPA9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 786064	NM_004134.7(HSPA9):c.21T>G (p.Ala7=)	HSPA9	Single nucleotide variant (synonymous variant)	Autosomal dominant sideroblastic anemia +2 more	GBenign/Likely benign
Select item 224330	NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)	HSPA9	Deletion (frameshift variant)	HSPA9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 224329	NM_004134.7(HSPA9):c.383A>G (p.Tyr128Cys)	HSPA9 (Y128C)	Single nucleotide variant (missense variant)	Even-plus syndrome	GPathogenic
Select item 224328	NM_004134.7(HSPA9):c.376C>T (p.Arg126Trp)	HSPA9 (R126W)	Single nucleotide variant (missense variant)	Even-plus syndrome	GPathogenic

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