ClinVar for MedGen (Select 1376462) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068202	NM_001037.5(SCN1B):c.448+63T>C	SCN1B (W171R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 52	GUncertain significance
Select item 3065198	NM_001037.5(SCN1B):c.448+349del	SCN1B (G266fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 52	GLikely pathogenic
Select item 1679533	NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)	CACNA1A (Q1673fs +3 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 52 +3 more	GPathogenic
Select item 1679532	NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)	CACNA1A (I1707T +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679531	NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)	CACNA1A (S218P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679530	NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)	CACNA1A (L617S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679529	NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)	CACNA1A	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679528	NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)	CACNA1A (G700E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679527	NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)	CACNA1A (V713M +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GPathogenic/Likely pathogenic
Select item 1679526	NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)	CACNA1A, LOC126862865 (D1316E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679525	NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)	CACNA1A (V1806A +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679524	NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)	CACNA1A (L1344P +2 more)	Single nucleotide variant (missense variant)	CACNA1A-associated disorder +4 more	GPathogenic/Likely pathogenic
Select item 1679523	NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	CACNA1A (A1507T +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GPathogenic
Select item 1677376	NM_001037.5(SCN1B):c.584A>C (p.Glu195Ala)	SCN1B (E162A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1441063	NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)	CACNA1A (K771* +2 more)	Single nucleotide variant (nonsense)	Migraine, familial hemiplegic, 1 +4 more	GPathogenic
Select item 1421109	NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)	CACNA1A (V1811I +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +4 more	GPathogenic/Likely pathogenic
Select item 1410718	NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp)	SCN1B (A154D +1 more)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 13 +5 more	GUncertain significance
Select item 1398258	NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)	CACNA1A (C281fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 52 +4 more	GPathogenic
Select item 1338921	NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)	CACNA1A (R1779* +3 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 1000333	NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)	CACNA1A (T1355I +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +5 more	GConflicting classifications of pathogenicity
Select item 995995	NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)	CACNA1A (S615R +1 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +4 more	GConflicting classifications of pathogenicity
Select item 976736	NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)	CACNA1A (T1355N +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GPathogenic/Likely pathogenic
Select item 976218	NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)	CACNA1A (S1343Y +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GConflicting classifications of pathogenicity
Select item 971813	NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	CACNA1A (R1355Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 889376	NM_001037.5(SCN1B):c.*378G>A	SCN1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +3 more	GUncertain significance
Select item 889374	NM_001037.5(SCN1B):c.*305C>T	SCN1B	Single nucleotide variant (3 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +3 more	GUncertain significance
Select item 852686	NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)	SCN1B (E84K +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +4 more	GUncertain significance
Select item 835237	NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)	CACNA1A (Y546* +1 more)	Single nucleotide variant (nonsense)	Episodic ataxia type 2 +4 more	GPathogenic
Select item 816882	NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)	SCN1B (R56C +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +5 more	GConflicting classifications of pathogenicity
Select item 694618	NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp)	SCN1B (Y119D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52	GPathogenic
Select item 694617	NM_001037.5(SCN1B):c.449-2A>G	SCN1B	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 52 +1 more	GConflicting classifications of pathogenicity
Select item 638582	NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	CACNA1A (R1667P +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +6 more	GPathogenic/Likely pathogenic
Select item 619998	NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)	SCN1B (S116L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +5 more	GUncertain significance
Select item 565664	NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)	SCN1B (T53N +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +3 more	GUncertain significance
Select item 545691	NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	CACNA1A (R279C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 537730	NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)	SCN1B (V139I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 506318	NM_001037.5(SCN1B):c.396C>T (p.Tyr132=)	SCN1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 1 +4 more	GLikely benign
Select item 496576	NM_001037.5(SCN1B):c.448+100G>T	SCN1B (W183L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 52 +2 more	GUncertain significance
Select item 470182	NM_001037.5(SCN1B):c.448+192C>T	SCN1B (R214W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 452814	NM_001037.5(SCN1B):c.*13G>A	SCN1B	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 450936	NM_001037.5(SCN1B):c.448+103C>T	SCN1B (P184L)	Single nucleotide variant (intron variant +1 more)	Brugada syndrome 5 +4 more	GUncertain significance
Select item 450171	NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)	CACNA1A (I712M +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +5 more	GConflicting classifications of pathogenicity
Select item 449943	NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)	CACNA1A (D1634N +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +6 more	GConflicting classifications of pathogenicity
Select item 436652	NM_001037.5(SCN1B):c.133C>T (p.Arg45Cys)	SCN1B (R45C +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +5 more	GUncertain significance
Select item 422063	NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)	CACNA1A (D1644N +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +5 more	GConflicting classifications of pathogenicity
Select item 420945	NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)	CACNA1A (P1353L +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +5 more	GConflicting classifications of pathogenicity
Select item 420055	NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)	CACNA1A (S1799L +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 406503	NM_001037.5(SCN1B):c.448+123C>T	SCN1B (R191W)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1 +4 more	GUncertain significance
Select item 380972	NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	CACNA1A (R1349Q +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +6 more	GPathogenic/Likely pathogenic
Select item 375687	NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe)	SCN1B (I106F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52	GPathogenic
Select item 375686	NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)	SCN1B (R125C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 375366	NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)	CACNA1A (R1672P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 328832	NM_001037.5(SCN1B):c.-88A>C	SCN1B	Single nucleotide variant (5 prime UTR variant)	Generalized epilepsy with febrile seizures plus, type 1 +3 more	GUncertain significance
Select item 257220	NM_001037.5(SCN1B):c.591-14C>A	SCN1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 1 +5 more	GBenign/Likely benign
Select item 254268	NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	CACNA1A (A713T +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +7 more	GPathogenic/Likely pathogenic
Select item 195935	NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	CACNA1A, LOC126862864 (V1393M +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +7 more	GPathogenic/Likely pathogenic
Select item 190881	NM_001037.5(SCN1B):c.374G>A (p.Arg125His)	SCN1B (R125H +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GUncertain significance
Select item 190880	NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)	SCN1B (T28A)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 5 +5 more	GUncertain significance
Select item 190877	NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)	SCN1B (C211Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 190874	NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)	SCN1B (A197V +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +6 more	GUncertain significance
Select item 190870	NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)	SCN1B (L13P)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +6 more	GUncertain significance
Select item 190860	NM_001037.5(SCN1B):c.266G>A (p.Arg89His)	SCN1B (R89H +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 190859	NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)	SCN1B (R85C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 190857	NM_001037.5(SCN1B):c.134G>A (p.Arg45His)	SCN1B (R45H +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 5 +5 more	GUncertain significance
Select item 190850	NM_001037.5(SCN1B):c.448+321G>A	SCN1B (G257R)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 1 +7 more	GBenign/Likely benign
Select item 190847	NM_001037.5(SCN1B):c.448+193G>A	SCN1B (R214Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 52 +6 more	GConflicting classifications of pathogenicity
Select item 138992	NM_001037.5(SCN1B):c.267C>T (p.Arg89=)	SCN1B	Single nucleotide variant (synonymous variant)	SCN1B-related condition +8 more	GBenign/Likely benign
Select item 60768	NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)	SCN1B (D153N +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 1 +6 more	GUncertain significance
Select item 60767	NM_001037.5(SCN1B):c.254G>A (p.Arg85His)	SCN1B (R85H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +6 more	GPathogenic/Likely pathogenic
Select item 9255	NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln)	SCN1B (E87Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +1 more	GUncertain significance
Select item 9252	NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	SCN1B (C121W +1 more)	Single nucleotide variant (missense variant)	SCN1B-related condition +7 more	GPathogenic/Likely pathogenic
Select item 8505	NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	CACNA1A (R583Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +5 more	GPathogenic

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Items: 72