SCN2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 1296386	NM_004588.5(SCN2B):c.*38C>T	SCN2B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 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 1141620	NM_004588.5(SCN2B):c.630G>A (p.Pro210=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
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)	not provided +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 1520112	NM_004588.5(SCN2B):c.616G>A (p.Gly206Ser)	SCN2B (G206S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	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 1086808	NM_004588.5(SCN2B):c.594C>T (p.Thr198=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	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 2782512	NM_004588.5(SCN2B):c.585C>T (p.Asp195=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	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 2125336	NM_004588.5(SCN2B):c.573del (p.Ser192fs)	SCN2B (S192fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1656896	NM_004588.5(SCN2B):c.567G>A (p.Gln189=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 839407	NM_004588.5(SCN2B):c.563A>G (p.Glu188Gly)	SCN2B (E188G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1125734	NM_004588.5(SCN2B):c.561A>G (p.Lys187=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	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 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 2872162	NM_004588.5(SCN2B):c.546T>C (p.Cys182=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
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 2739026	NM_004588.5(SCN2B):c.529C>T (p.Leu177=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1662577	NM_004588.5(SCN2B):c.523T>C (p.Leu175=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
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 1745467	NM_004588.5(SCN2B):c.511G>C (p.Ala171Pro)	SCN2B (A171P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1745196	NM_004588.5(SCN2B):c.507C>T (p.Phe169=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 1665834	NM_004588.5(SCN2B):c.498C>G (p.Val166=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	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)	Cardiovascular phenotype +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 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 373475	NM_004588.5(SCN2B):c.485T>G (p.Val162Gly)	SCN2B (V162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 225465	NM_004588.5(SCN2B):c.449-2A>C	SCN2B	Single nucleotide variant (splice acceptor variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1643652	NM_004588.5(SCN2B):c.449-13_449-12delinsAA	SCN2B	Indel (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 259446	NM_004588.5(SCN2B):c.449-12C>A	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14 +1 more	GBenign
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 679817	NM_004588.5(SCN2B):c.449-78C>T	SCN2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674912	NM_004588.5(SCN2B):c.449-130C>T	SCN2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674741	NM_004588.5(SCN2B):c.449-151G>T	SCN2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674854	NM_004588.5(SCN2B):c.449-163C>G	SCN2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225934	NM_004588.5(SCN2B):c.449-167G>A	SCN2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674852	NM_004588.5(SCN2B):c.448+148C>T	SCN2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674851	NM_004588.5(SCN2B):c.448+103A>G	SCN2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296384	NM_004588.5(SCN2B):c.448+59G>A	SCN2B	Single nucleotide variant (intron variant)	not provided	GBenign
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 1403985	NM_004588.5(SCN2B):c.448+6G>C	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GUncertain significance
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 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 2888742	NM_004588.5(SCN2B):c.420C>T (p.Gly140=)	SCN2B	Single nucleotide variant (synonymous 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 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 1677607	NM_004588.5(SCN2B):c.398dup (p.Pro133_Asp134insTer)	SCN2B	Duplication (frameshift variant)	not provided	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 2274626	NM_004588.5(SCN2B):c.394C>A (p.Pro132Thr)	SCN2B (P132T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1497551	NM_004588.5(SCN2B):c.388A>T (p.Met130Leu)	SCN2B (M130L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	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 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 1733205	NM_004588.5(SCN2B):c.360G>A (p.Glu120=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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