"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297718	NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp)	KCNQ4 (G222D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 45104	NM_004700.4(KCNQ4):c.708+14G>C	KCNQ4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 45105	NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 6242	NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)	KCNQ4 (W276S)	Single nucleotide variant (missense variant)	Rare genetic deafness	GPathogenic
Select item 45100	NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=)	KCNQ4	Single nucleotide variant (synonymous variant +1 more)	KCNQ4-related condition +3 more	GBenign/Likely benign
Select item 45101	NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln)	KCNQ4 (H455Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 45103	NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=)	KCNQ4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

ClinVar