"Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183418	NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)	KCNH1 (G469R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 162520	NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val)	KCNH1 (I494V +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome +2 more	GPathogenic
Select item 183417	NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu)	KCNH1 (V356L +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183416	NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val)	KCNH1 (L352V +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183415	NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg)	KCNH1 (G348R +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic
Select item 183419	NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr)	KCNH1 (S325Y +1 more)	Single nucleotide variant (missense variant)	Zimmermann-Laband syndrome 1	GPathogenic

ClinVar