"GeneDx"[submitter] AND "LOC129996711"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371856	NM_019842.4(KCNQ5):c.1A>G (p.Met1Val)	KCNQ5, KCNQ5-DT +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2442450	NM_019842.4(KCNQ5):c.8_10del (p.Arg3del)	KCNQ5, KCNQ5-DT +1 more (R3del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2573709	NM_019842.4(KCNQ5):c.14A>G (p.His5Arg)	KCNQ5, KCNQ5-DT +1 more (H5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368172	NM_019842.4(KCNQ5):c.60C>A (p.Ser20Arg)	KCNQ5, KCNQ5-DT +1 more (S20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545927	NM_019842.4(KCNQ5):c.80_87del (p.Ala27fs)	KCNQ5, KCNQ5-DT +1 more (A27fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3363831	NM_019842.4(KCNQ5):c.103G>C (p.Gly35Arg)	KCNQ5, KCNQ5-DT +1 more (G35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310055	NM_019842.4(KCNQ5):c.116T>C (p.Val39Ala)	KCNQ5, KCNQ5-DT +1 more (V39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221367	NM_019842.4(KCNQ5):c.123C>G (p.Ser41=)	KCNQ5, KCNQ5-DT +1 more	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 46 +1 more	GBenign

ClinVar