ClinVar for Gene (Select 6327) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316560	NM_004588.5(SCN2B):c.520A>C (p.Ile174Leu)	SCN2B (I174L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3316559	NM_004588.5(SCN2B):c.403C>T (p.Arg135Cys)	SCN2B (R135C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3316558	NM_004588.5(SCN2B):c.427C>T (p.His143Tyr)	SCN2B (H143Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	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 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 3224331	NM_004588.5(SCN2B):c.293G>A (p.Arg98His)	SCN2B (R98H)	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 3158528	NM_004588.5(SCN2B):c.275T>C (p.Leu92Pro)	SCN2B (L92P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3023527	NM_004588.5(SCN2B):c.446A>G (p.Glu149Gly)	SCN2B (E149G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3018245	NM_004588.5(SCN2B):c.71-1G>A	SCN2B	Single nucleotide variant (splice acceptor variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2904648	NM_004588.5(SCN2B):c.238-18C>T	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2888742	NM_004588.5(SCN2B):c.420C>T (p.Gly140=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2875973	NM_004588.5(SCN2B):c.70+14A>T	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2875011	NM_004588.5(SCN2B):c.111C>T (p.Thr37=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2872162	NM_004588.5(SCN2B):c.546T>C (p.Cys182=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2848763	NM_004588.5(SCN2B):c.303C>T (p.Phe101=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2848304	NM_004588.5(SCN2B):c.367G>A (p.Gly123Arg)	SCN2B (G123R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2841250	NM_004588.5(SCN2B):c.419G>A (p.Gly140Asp)	SCN2B (G140D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2833179	NM_004588.5(SCN2B):c.51C>A (p.Leu17=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2827596	NM_004588.5(SCN2B):c.449-15C>T	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2802471	NM_004588.5(SCN2B):c.108C>T (p.Ala36=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2782512	NM_004588.5(SCN2B):c.585C>T (p.Asp195=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2757092	NM_004588.5(SCN2B):c.346A>G (p.Asn116Asp)	SCN2B (N116D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2745826	NM_004588.5(SCN2B):c.290A>G (p.Asp97Gly)	SCN2B (D97G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2739026	NM_004588.5(SCN2B):c.529C>T (p.Leu177=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2713121	NM_004588.5(SCN2B):c.502G>T (p.Gly168Cys)	SCN2B (G168C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2682371	NM_004588.5(SCN2B):c.389T>C (p.Met130Thr)	SCN2B (M130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
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 2625023	NM_004588.5(SCN2B):c.146C>T (p.Pro49Leu)	SCN2B (P49L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
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 2562615	NM_004588.5(SCN2B):c.82C>A (p.Arg28=)	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 2562613	NM_004588.5(SCN2B):c.576C>A (p.Ser192Arg)	SCN2B (S192R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2500083	NM_004588.5(SCN2B):c.145C>T (p.Pro49Ser)	SCN2B (P49S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	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 2496754	NM_004588.5(SCN2B):c.634G>C (p.Asp212His)	SCN2B (D212H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2447545	NM_004588.5(SCN2B):c.263T>C (p.Ile88Thr)	SCN2B (I88T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 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 2435692	NM_004588.5(SCN2B):c.86G>A (p.Ser29Asn)	SCN2B (S29N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2435691	NM_004588.5(SCN2B):c.*5T>G	SCN2B	Single nucleotide variant (3 prime UTR variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 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 2274626	NM_004588.5(SCN2B):c.394C>A (p.Pro132Thr)	SCN2B (P132T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2195149	NM_004588.5(SCN2B):c.139C>T (p.Arg47Cys)	SCN2B (R47C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2159616	NM_004588.5(SCN2B):c.274C>G (p.Leu92Val)	SCN2B (L92V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2157748	NM_004588.5(SCN2B):c.522C>G (p.Ile174Met)	SCN2B (I174M)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2152642	NM_004588.5(SCN2B):c.116A>G (p.Asn39Ser)	SCN2B (N39S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2148966	NM_004588.5(SCN2B):c.448+13G>A	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2145196	NM_004588.5(SCN2B):c.508C>T (p.Leu170=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2134741	NM_004588.5(SCN2B):c.268C>T (p.Leu90=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2133451	NM_004588.5(SCN2B):c.70+17T>C	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2125336	NM_004588.5(SCN2B):c.573del (p.Ser192fs)	SCN2B (S192fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2048540	NM_004588.5(SCN2B):c.28C>T (p.Pro10Ser)	SCN2B (P10S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2027610	NM_004588.5(SCN2B):c.81A>G (p.Gly27=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1926273	NM_004588.5(SCN2B):c.321G>A (p.Lys107=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1913823	NM_004588.5(SCN2B):c.490G>A (p.Ala164Thr)	SCN2B (A164T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1910186	NM_004588.5(SCN2B):c.396C>T (p.Pro132=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
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 1794703	NM_004588.5(SCN2B):c.110C>T (p.Thr37Ile)	SCN2B (T37I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 1771015	NM_004588.5(SCN2B):c.136G>A (p.Ala46Thr)	SCN2B (A46T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1758716	NM_004588.5(SCN2B):c.73C>G (p.Pro25Ala)	SCN2B (P25A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758214	NM_004588.5(SCN2B):c.73_74delinsG (p.Pro25fs)	SCN2B (P25fs)	Indel (frameshift variant)	Cardiovascular phenotype	GUncertain significance
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 1750974	NM_004588.5(SCN2B):c.5A>C (p.His2Pro)	SCN2B (H2P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1749641	NM_004588.5(SCN2B):c.578C>T (p.Thr193Ile)	SCN2B (T193I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 1749524	NM_004588.5(SCN2B):c.576C>T (p.Ser192=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 1747296	NM_004588.5(SCN2B):c.53G>A (p.Ser18Asn)	SCN2B (S18N)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	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 1741726	NM_004588.5(SCN2B):c.117C>T (p.Asn39=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1741629	NM_004588.5(SCN2B):c.457G>A (p.Glu153Lys)	SCN2B (E153K)	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 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 1735029	NM_004588.5(SCN2B):c.37A>C (p.Ser13Arg)	SCN2B (S13R)	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 1732062	NM_004588.5(SCN2B):c.34T>G (p.Phe12Val)	SCN2B (F12V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic

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