"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNQ3"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205995	NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val)	KCNQ3 (I872V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 138051	NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)	KCNQ3 (P769H +1 more)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +5 more	GBenign/Likely benign
Select item 935235	NM_004519.4(KCNQ3):c.2295C>A (p.Asp765Glu)	KCNQ3 (D765E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 138050	NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu)	KCNQ3 (G723E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 194513	NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)	KCNQ3 (S665L +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +3 more	GConflicting classifications of pathogenicity
Select item 206003	NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu)	KCNQ3 (V629L +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +4 more	GUncertain significance
Select item 361879	NM_004519.4(KCNQ3):c.1700+3G>A	KCNQ3	Single nucleotide variant (intron variant)	Benign neonatal seizures +3 more	GBenign/Likely benign
Select item 1581804	NM_004519.4(KCNQ3):c.1568+8C>T	KCNQ3	Single nucleotide variant (intron variant)	Seizures, benign familial neonatal, 2 +1 more	GLikely benign
Select item 129348	NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=)	KCNQ3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 450849	NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met)	KCNQ3 (E417M +1 more)	Indel (missense variant)	Benign neonatal seizures +2 more	GUncertain significance
Select item 138042	NM_004519.4(KCNQ3):c.1236-16C>T	KCNQ3	Single nucleotide variant (intron variant)	Seizures, benign familial neonatal, 2 +2 more	GBenign/Likely benign
Select item 205970	NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg)	KCNQ3 (P409R +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +2 more	GConflicting classifications of pathogenicity
Select item 570705	NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr)	KCNQ3 (I393T +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +2 more	GUncertain significance
Select item 129346	NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=)	KCNQ3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
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
Select item 587943	NM_004519.4(KCNQ3):c.73G>A (p.Ala25Thr)	KCNQ3 (A25T)	Single nucleotide variant (missense variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance