"Ambry Genetics"[submitter] AND "SCN2B"[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1753587	NM_004588.5(SCN2B):c.644A>T (p.Lys215Met)	SCN2B (K215M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 947137	NM_004588.5(SCN2B):c.640G>A (p.Ala214Thr)	SCN2B (A214T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 1096955	NM_004588.5(SCN2B):c.639C>T (p.Gly213=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2496754	NM_004588.5(SCN2B):c.634G>C (p.Asp212His)	SCN2B (D212H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 60776	NM_004588.5(SCN2B):c.632A>G (p.Asp211Gly)	SCN2B (D211G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 191493	NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu)	SCN2B (P210L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 422854	NM_004588.5(SCN2B):c.625_626delinsCC (p.Asn209Pro)	SCN2B (N209P)	Indel (missense variant)	Atrial fibrillation, familial, 14 +2 more	GConflicting classifications of pathogenicity
Select item 1378025	NM_004588.5(SCN2B):c.622G>A (p.Gly208Ser)	SCN2B (G208S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 415258	NM_004588.5(SCN2B):c.615C>T (p.Asp205=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1165438	NM_004588.5(SCN2B):c.612G>A (p.Thr204=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 655020	NM_004588.5(SCN2B):c.611C>T (p.Thr204Met)	SCN2B (T204M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1750888	NM_004588.5(SCN2B):c.598G>A (p.Glu200Lys)	SCN2B (E200K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750826	NM_004588.5(SCN2B):c.597G>A (p.Glu199=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447543	NM_004588.5(SCN2B):c.593C>G (p.Thr198Ser)	SCN2B (T198S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447542	NM_004588.5(SCN2B):c.588G>A (p.Leu196=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1749641	NM_004588.5(SCN2B):c.578C>T (p.Thr193Ile)	SCN2B (T193I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 408874	NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg)	SCN2B (T193R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +2 more	GConflicting classifications of pathogenicity
Select item 2562613	NM_004588.5(SCN2B):c.576C>A (p.Ser192Arg)	SCN2B (S192R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1749524	NM_004588.5(SCN2B):c.576C>T (p.Ser192=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2562614	NM_004588.5(SCN2B):c.575G>A (p.Ser192Asn)	SCN2B (S192N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748274	NM_004588.5(SCN2B):c.555A>T (p.Arg185Ser)	SCN2B (R185S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748238	NM_004588.5(SCN2B):c.554G>T (p.Arg185Ile)	SCN2B (R185I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748237	NM_004588.5(SCN2B):c.554G>C (p.Arg185Thr)	SCN2B (R185T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 2280287	NM_004588.5(SCN2B):c.553A>G (p.Arg185Gly)	SCN2B (R185G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747917	NM_004588.5(SCN2B):c.549G>C (p.Val183=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1747789	NM_004588.5(SCN2B):c.547G>A (p.Val183Met)	SCN2B (V183M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625024	NM_004588.5(SCN2B):c.539T>G (p.Val180Gly)	SCN2B (V180G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745467	NM_004588.5(SCN2B):c.511G>C (p.Ala171Pro)	SCN2B (A171P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745196	NM_004588.5(SCN2B):c.507C>T (p.Phe169=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 515329	NM_004588.5(SCN2B):c.498C>T (p.Val166=)	SCN2B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1597634	NM_004588.5(SCN2B):c.496G>A (p.Val166Ile)	SCN2B (V166I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +2 more	GLikely benign
Select item 1080323	NM_004588.5(SCN2B):c.495C>T (p.Ser165=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 264461	NM_004588.5(SCN2B):c.478G>A (p.Val160Met)	SCN2B (V160M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 510283	NM_004588.5(SCN2B):c.477C>T (p.Ala159=)	SCN2B	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 700158	NM_004588.5(SCN2B):c.470C>T (p.Thr157Met)	SCN2B (T157M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 544054	NM_004588.5(SCN2B):c.461G>A (p.Arg154Gln)	SCN2B (R154Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 1741629	NM_004588.5(SCN2B):c.457G>A (p.Glu153Lys)	SCN2B (E153K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 1439728	NM_004588.5(SCN2B):c.452C>A (p.Pro151His)	SCN2B (P151H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1740071	NM_004588.5(SCN2B):c.436G>A (p.Val146Ile)	SCN2B (V146I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1739906	NM_004588.5(SCN2B):c.434A>G (p.Gln145Arg)	SCN2B (Q145R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1023340	NM_004588.5(SCN2B):c.412G>A (p.Gly138Ser)	SCN2B (G138S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 239959	NM_004588.5(SCN2B):c.410G>A (p.Arg137His)	SCN2B (R137H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 508347	NM_004588.5(SCN2B):c.408C>T (p.His136=)	SCN2B	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1737451	NM_004588.5(SCN2B):c.405C>T (p.Arg135=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1737352	NM_004588.5(SCN2B):c.404G>A (p.Arg135His)	SCN2B (R135H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2274626	NM_004588.5(SCN2B):c.394C>A (p.Pro132Thr)	SCN2B (P132T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224333	NM_004588.5(SCN2B):c.385A>T (p.Ile129Phe)	SCN2B (I129F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224332	NM_004588.5(SCN2B):c.376A>G (p.Asn126Asp)	SCN2B (N126D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1734044	NM_004588.5(SCN2B):c.369G>C (p.Gly123=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733205	NM_004588.5(SCN2B):c.360G>A (p.Glu120=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 512603	NM_004588.5(SCN2B):c.357G>A (p.Pro119=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 510700	NM_004588.5(SCN2B):c.356C>T (p.Pro119Leu)	SCN2B (P119L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 765649	NM_004588.5(SCN2B):c.348C>T (p.Asn116=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 1427799	NM_004588.5(SCN2B):c.343A>G (p.Arg115Gly)	SCN2B (R115G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 701161	NM_004588.5(SCN2B):c.340C>T (p.Leu114=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1730893	NM_004588.5(SCN2B):c.338T>C (p.Met113Thr)	SCN2B (M113T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 1729515	NM_004588.5(SCN2B):c.325G>A (p.Asp109Asn)	SCN2B (D109N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 2625022	NM_004588.5(SCN2B):c.303C>G (p.Phe101Leu)	SCN2B (F101L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1370529	NM_004588.5(SCN2B):c.295G>T (p.Val99Leu)	SCN2B (V99L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 666404	NM_004588.5(SCN2B):c.295G>A (p.Val99Met)	SCN2B (V99M)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 3224331	NM_004588.5(SCN2B):c.293G>A (p.Arg98His)	SCN2B (R98H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1059103	NM_004588.5(SCN2B):c.292C>T (p.Arg98Cys)	SCN2B (R98C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 935689	NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln)	SCN2B (R94Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1796312	NM_004588.5(SCN2B):c.280C>T (p.Arg94Trp)	SCN2B (R94W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3158528	NM_004588.5(SCN2B):c.275T>C (p.Leu92Pro)	SCN2B (L92P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447545	NM_004588.5(SCN2B):c.263T>C (p.Ile88Thr)	SCN2B (I88T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 408878	NM_004588.5(SCN2B):c.251G>A (p.Arg84His)	SCN2B (R84H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 408876	NM_004588.5(SCN2B):c.250C>T (p.Arg84Cys)	SCN2B (R84C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 2447544	NM_004588.5(SCN2B):c.241C>T (p.Leu81Phe)	SCN2B (L81F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1022738	NM_004588.5(SCN2B):c.237G>C (p.Met79Ile)	SCN2B (M79I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 518839	NM_004588.5(SCN2B):c.205T>C (p.Tyr69His)	SCN2B (Y69H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 2496755	NM_004588.5(SCN2B):c.191C>T (p.Ser64Phe)	SCN2B (S64F)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 1776082	NM_004588.5(SCN2B):c.159C>T (p.Asn53=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 415259	NM_004588.5(SCN2B):c.150C>T (p.Cys50=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2625023	NM_004588.5(SCN2B):c.146C>T (p.Pro49Leu)	SCN2B (P49L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1630435	NM_004588.5(SCN2B):c.144G>A (p.Leu48=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 408875	NM_004588.5(SCN2B):c.140G>A (p.Arg47His)	SCN2B (R47H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 1771015	NM_004588.5(SCN2B):c.136G>A (p.Ala46Thr)	SCN2B (A46T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 510784	NM_004588.5(SCN2B):c.135C>T (p.Asp45=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 508188	NM_004588.5(SCN2B):c.129C>T (p.Gly43=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +2 more	GLikely benign
Select item 1153544	NM_004588.5(SCN2B):c.126T>C (p.Asn42=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 191494	NM_004588.5(SCN2B):c.118G>A (p.Val40Ile)	SCN2B (V40I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1741726	NM_004588.5(SCN2B):c.117C>T (p.Asn39=)	SCN2B	Single nucleotide variant (synonymous variant)	SCN2B-related condition +2 more	GLikely benign
Select item 1794703	NM_004588.5(SCN2B):c.110C>T (p.Thr37Ile)	SCN2B (T37I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 1767872	NM_004588.5(SCN2B):c.96C>A (p.Val32=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 60770	NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln)	SCN2B (R28Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2562615	NM_004588.5(SCN2B):c.82C>A (p.Arg28=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 60769	NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp)	SCN2B (R28W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1758214	NM_004588.5(SCN2B):c.73_74delinsG (p.Pro25fs)	SCN2B (P25fs)	Indel (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758716	NM_004588.5(SCN2B):c.73C>G (p.Pro25Ala)	SCN2B (P25A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747296	NM_004588.5(SCN2B):c.53G>A (p.Ser18Asn)	SCN2B (S18N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3224334	NM_004588.5(SCN2B):c.45G>C (p.Thr15=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 516019	NM_004588.5(SCN2B):c.45G>A (p.Thr15=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +2 more	GLikely benign
Select item 191495	NM_004588.5(SCN2B):c.44C>T (p.Thr15Met)	SCN2B (T15M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2447546	NM_004588.5(SCN2B):c.42C>G (p.Leu14=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1735029	NM_004588.5(SCN2B):c.37A>C (p.Ser13Arg)	SCN2B (S13R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1732062	NM_004588.5(SCN2B):c.34T>G (p.Phe12Val)	SCN2B (F12V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224330	NM_004588.5(SCN2B):c.26G>A (p.Arg9His)	SCN2B (R9H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750974	NM_004588.5(SCN2B):c.5A>C (p.His2Pro)	SCN2B (H2P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

ClinVar

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Items: 99