ClinVar for MedGen (Select 82856) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378927	NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	SCN2A (V261M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
Select item 361899	NM_004519.4(KCNQ3):c.-156C>T	KCNQ3	Single nucleotide variant (5 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361898	NM_004519.4(KCNQ3):c.-148_-147insTG	KCNQ3	Insertion (5 prime UTR variant)	Benign neonatal seizures +2 more	GConflicting classifications of pathogenicity
Select item 361897	NM_004519.4(KCNQ3):c.-142G>T	KCNQ3	Single nucleotide variant (5 prime UTR variant)	Benign Neonatal Epilepsy +2 more	GBenign
Select item 361896	NM_004519.4(KCNQ3):c.-140_-139insTG	KCNQ3	Insertion (5 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361894	NM_004519.4(KCNQ3):c.-141_-139dup	KCNQ3	Duplication (5 prime UTR variant)	Benign Neonatal Epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 361893	NM_004519.4(KCNQ3):c.-140_-139dup	KCNQ3	Duplication (5 prime UTR variant)	Benign Neonatal Epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 361892	NM_004519.4(KCNQ3):c.-139dup	KCNQ3	Duplication (5 prime UTR variant)	Benign neonatal seizures +2 more	GConflicting classifications of pathogenicity
Select item 361891	NM_004519.4(KCNQ3):c.-138del	KCNQ3	Deletion (5 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361890	NM_004519.4(KCNQ3):c.-136_-134dup	KCNQ3	Duplication (5 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361889	NM_004519.4(KCNQ3):c.-135_-134dup	KCNQ3	Duplication (5 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361888	NM_004519.4(KCNQ3):c.-134dup	KCNQ3	Duplication (5 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361887	NM_004519.4(KCNQ3):c.-130_-129dup	KCNQ3	Duplication (5 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361885	NM_004519.4(KCNQ3):c.-65C>T	KCNQ3	Single nucleotide variant (5 prime UTR variant)	Benign Neonatal Epilepsy +2 more	GBenign/Likely benign
Select item 361884	NM_004519.4(KCNQ3):c.-54C>G	KCNQ3	Single nucleotide variant (5 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361882	NM_004519.4(KCNQ3):c.145G>A (p.Asp49Asn)	KCNQ3 (D49N)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361881	NM_004519.4(KCNQ3):c.170T>C (p.Leu57Pro)	KCNQ3 (L57P)	Single nucleotide variant (missense variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361880	NM_004519.4(KCNQ3):c.1656C>T (p.Ala552=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign Neonatal Epilepsy +2 more	GLikely benign
Select item 361878	NM_004519.4(KCNQ3):c.1737G>A (p.Thr579=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign neonatal seizures +2 more	GLikely benign
Select item 361876	NM_004519.4(KCNQ3):c.1980C>A (p.Thr660=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361874	NM_004519.4(KCNQ3):c.2165G>A (p.Arg722Gln)	KCNQ3 (R722Q +1 more)	Single nucleotide variant (missense variant)	Benign neonatal seizures +2 more	GUncertain significance
Select item 361873	NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=)	KCNQ3	Single nucleotide variant (synonymous variant)	Benign Neonatal Epilepsy +2 more	GBenign/Likely benign
Select item 361870	NM_004519.4(KCNQ3):c.*425C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361869	NM_004519.4(KCNQ3):c.*426C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361868	NM_004519.4(KCNQ3):c.716_717insAACA	KCNQ3	Insertion (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361867	NM_004519.4(KCNQ3):c.*732A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361866	NM_004519.4(KCNQ3):c.*743C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361865	NM_004519.4(KCNQ3):c.*717CA[21]	KCNQ3	Microsatellite (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361864	NM_004519.4(KCNQ3):c.*717CA[17]	KCNQ3	Microsatellite (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361862	NM_004519.4(KCNQ3):c.*717CA[23]	KCNQ3	Microsatellite (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361861	NM_004519.4(KCNQ3):c.*717CA[20]	KCNQ3	Microsatellite (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361860	NM_004519.4(KCNQ3):c.755_758del	KCNQ3	Deletion (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361859	NM_004519.4(KCNQ3):c.755_760del	KCNQ3	Deletion (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361858	NM_004519.4(KCNQ3):c.*757CA[1]	KCNQ3	Microsatellite (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361857	NM_004519.4(KCNQ3):c.*828T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 361853	NM_004519.4(KCNQ3):c.*1383C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361852	NM_004519.4(KCNQ3):c.*1384G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 361851	NM_004519.4(KCNQ3):c.*1407A>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361848	NM_004519.4(KCNQ3):c.*1676T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GLikely benign
Select item 361847	NM_004519.4(KCNQ3):c.*1697C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 361845	NM_004519.4(KCNQ3):c.*2010T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 361843	NM_004519.4(KCNQ3):c.*2137C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361842	NM_004519.4(KCNQ3):c.*2166A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 361841	NM_004519.4(KCNQ3):c.2266_2269del	KCNQ3	Deletion (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361840	NM_004519.4(KCNQ3):c.*2271T>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361839	NM_004519.4(KCNQ3):c.2385_2388del	KCNQ3	Deletion (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361836	NM_004519.4(KCNQ3):c.*2876C>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361835	NM_004519.4(KCNQ3):c.*2921T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361834	NM_004519.4(KCNQ3):c.*3032A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361830	NM_004519.4(KCNQ3):c.*3217C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 361828	NM_004519.4(KCNQ3):c.*3262G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 361825	NM_004519.4(KCNQ3):c.*3544A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361824	NM_004519.4(KCNQ3):c.*3591T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 361823	NM_004519.4(KCNQ3):c.*3597G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361818	NM_004519.4(KCNQ3):c.*3805C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361817	NM_004519.4(KCNQ3):c.*3823G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361815	NM_004519.4(KCNQ3):c.*3957A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361814	NM_004519.4(KCNQ3):c.*3977G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361811	NM_004519.4(KCNQ3):c.*4043C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361809	NM_004519.4(KCNQ3):c.*4243A>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361808	NM_004519.4(KCNQ3):c.*4258T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 361807	NM_004519.4(KCNQ3):c.*4316del	KCNQ3	Deletion (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GLikely benign
Select item 361806	NM_004519.4(KCNQ3):c.*4479C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361805	NM_004519.4(KCNQ3):c.*4481C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 361804	NM_004519.4(KCNQ3):c.*4551T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 361803	NM_004519.4(KCNQ3):c.*4736G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 361802	NM_004519.4(KCNQ3):c.4746_4747insACAG	KCNQ3	Insertion (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361800	NM_004519.4(KCNQ3):c.*4949G>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +2 more	GConflicting classifications of pathogenicity
Select item 361798	NM_004519.4(KCNQ3):c.*4982A>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361797	NM_004519.4(KCNQ3):c.*4982del	KCNQ3	Deletion (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361792	NM_004519.4(KCNQ3):c.*5482A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign/Likely benign
Select item 361791	NM_004519.4(KCNQ3):c.*5521C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign neonatal seizures +1 more	GUncertain significance
Select item 361786	NM_004519.4(KCNQ3):c.*5761C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 361784	NM_004519.4(KCNQ3):c.*5932A>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361783	NM_004519.4(KCNQ3):c.*5965T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +2 more	GBenign/Likely benign
Select item 361779	NM_004519.4(KCNQ3):c.*6238T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361776	NM_004519.4(KCNQ3):c.*6340G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361774	NM_004519.4(KCNQ3):c.*6446del	KCNQ3	Deletion (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GLikely benign
Select item 361773	NM_004519.4(KCNQ3):c.*6460C>T	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GUncertain significance
Select item 361769	NM_004519.4(KCNQ3):c.*6812A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361766	NM_004519.4(KCNQ3):c.*6956A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361764	NM_004519.4(KCNQ3):c.*7033T>C	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Seizures, benign familial neonatal, 2 +1 more	GBenign
Select item 361763	NM_004519.4(KCNQ3):c.*7075A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 361758	NM_004519.4(KCNQ3):c.*7214G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361755	NM_004519.4(KCNQ3):c.*7331A>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 361752	NM_004519.4(KCNQ3):c.*7464C>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign/Likely benign
Select item 361749	NM_004519.4(KCNQ3):c.*7512T>G	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361746	NM_004519.4(KCNQ3):c.*7980dup	KCNQ3	Duplication (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GUncertain significance
Select item 361745	NM_004519.4(KCNQ3):c.*8148G>A	KCNQ3	Single nucleotide variant (3 prime UTR variant)	Benign Neonatal Epilepsy +1 more	GBenign
Select item 239950	NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=)	KCNQ3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205981	NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg)	KCNQ3 (Q653R +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 138051	NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)	KCNQ3 (P769H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 21412	NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)	KCNQ3 (N821S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 21411	NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)	KCNQ3 (P574S +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 21409	NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly)	KCNQ3 (E414G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign

ClinVar

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Items: 95