C1852581[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 361773	NM_004519.4(KCNQ3):c.*6460C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 2433030	NM_004519.4(KCNQ3):c.2572G>A (p.Asp858Asn)	KCNQ3 (D738N +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 2433028	NM_004519.4(KCNQ3):c.2098C>T (p.His700Tyr)	KCNQ3 (H580Y +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 1707007	NM_004519.4(KCNQ3):c.2060A>G (p.Tyr687Cys)	KCNQ3 (Y567C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +3 more	GUncertain significance
Select item 909669	NM_004519.4(KCNQ3):c.2014A>G (p.Lys672Glu)	KCNQ3 (K552E +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 447643	NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr)	KCNQ3 (A518T +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +2 more	GUncertain significance
Select item 2433029	NM_004519.4(KCNQ3):c.1445C>T (p.Ala482Val)	KCNQ3 (A362V +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2	GUncertain significance
Select item 205963	NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	KCNQ3 (R230C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +9 more	GPathogenic/Likely pathogenic