55800[geneid] - 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	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +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	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 147400	GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	ACRV1, BSX +166 more	Copy number loss	See cases	GPathogenic
Select item 1679730	Single allele	BSX, CLMP +52 more	Duplication	not provided	GUncertain significance
Select item 155153	GRCh38/hg38 11q24.1(chr11:123187564-123800140)x3	CLMP, GRAMD1B +29 more	Copy number gain	See cases	GUncertain significance
Select item 152641	GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3	ESAM, ESAM-AS1 +59 more	Copy number gain	See cases	GUncertain significance
Select item 303125	NM_001040151.2(SCN3B):c.*4588T>C	SCN3B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 303146	NM_001040151.2(SCN3B):c.*2795GAA[1]	SCN3B	Microsatellite (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 303154	NM_001040151.2(SCN3B):c.*2366G>A	SCN3B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 303161	NM_001040151.2(SCN3B):c.*1948TATT[2]	SCN3B	Microsatellite (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 303178	NM_001040151.2(SCN3B):c.*1007dup	SCN3B	Duplication (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 303187	NM_001040151.2(SCN3B):c.*509G>A	SCN3B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 303188	NM_001040151.2(SCN3B):c.*447C>A	SCN3B	Single nucleotide variant (3 prime UTR variant)	Brugada syndrome	GUncertain significance
Select item 1235607	NM_001040151.2(SCN3B):c.*153C>T	SCN3B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1273376	NM_001040151.2(SCN3B):c.*26G>A	SCN3B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 392040	NM_001040151.2(SCN3B):c.*23-15T>A	SCN3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 671838	NM_001040151.2(SCN3B):c.*22+156G>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 139035	NM_001040151.2(SCN3B):c.*22+16A>C	SCN3B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 574131	NM_001040151.2(SCN3B):c.632T>G (p.Val211Gly)	SCN3B (V211G)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 2563488	NM_001040151.2(SCN3B):c.631G>A (p.Val211Ile)	SCN3B (V211I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1086381	NM_001040151.2(SCN3B):c.630G>A (p.Ala210=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 190884	NM_001040151.2(SCN3B):c.629C>T (p.Ala210Val)	SCN3B (A210V)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +2 more	GConflicting classifications of pathogenicity
Select item 1752650	NM_001040151.2(SCN3B):c.628G>A (p.Ala210Thr)	SCN3B (A210T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2964160	NM_001040151.2(SCN3B):c.624C>T (p.Asn208=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7	GLikely benign
Select item 3227135	NM_001040151.2(SCN3B):c.621G>A (p.Glu207=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1956227	NM_001040151.2(SCN3B):c.618G>C (p.Lys206Asn)	SCN3B (K206N)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 426980	NM_001040151.2(SCN3B):c.614A>G (p.Asn205Ser)	SCN3B (N205S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2497037	NM_001040151.2(SCN3B):c.608C>T (p.Ser203Phe)	SCN3B (S203F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2153493	NM_001040151.2(SCN3B):c.601A>G (p.Ile201Val)	SCN3B (I201V)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 3227134	NM_001040151.2(SCN3B):c.597T>C (p.Leu199=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 519417	NM_001040151.2(SCN3B):c.591dup (p.Tyr198fs)	SCN3B (Y198fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 222800	NM_001040151.2(SCN3B):c.587C>G (p.Ser196Cys)	SCN3B (S196C)	Single nucleotide variant (missense variant)	Sudden cardiac death	GUncertain significance
Select item 2184067	NM_001040151.2(SCN3B):c.585-1G>C	SCN3B	Single nucleotide variant (splice acceptor variant)	Brugada syndrome 7	GUncertain significance
Select item 1677762	NM_001040151.2(SCN3B):c.585-2A>G	SCN3B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 519377	NM_001040151.2(SCN3B):c.585-4A>G	SCN3B	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1613444	NM_001040151.2(SCN3B):c.585-16C>T	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
Select item 670950	NM_001040151.2(SCN3B):c.585-45G>C	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7 +1 more	GBenign
Select item 672213	NM_001040151.2(SCN3B):c.585-130T>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210765	NM_001040151.2(SCN3B):c.585-156A>G	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671837	NM_001040151.2(SCN3B):c.585-185G>A	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193693	NM_001040151.2(SCN3B):c.585-190T>A	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675388	NM_001040151.2(SCN3B):c.584+206C>A	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670949	NM_001040151.2(SCN3B):c.584+130C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670948	NM_001040151.2(SCN3B):c.584+91C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675387	NM_001040151.2(SCN3B):c.584+52T>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380685	NM_001040151.2(SCN3B):c.584+12G>A	SCN3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1640661	NM_001040151.2(SCN3B):c.584+9A>C	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
Select item 1484460	NM_001040151.2(SCN3B):c.584+2dup	SCN3B	Duplication (splice donor variant)	Brugada syndrome 7	GUncertain significance
Select item 3227133	NM_001040151.2(SCN3B):c.584+1G>A	SCN3B	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1931405	NM_001040151.2(SCN3B):c.584C>T (p.Ala195Val)	SCN3B (A195V)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 642346	NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)	SCN3B (A195T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 190883	NM_001040151.2(SCN3B):c.582C>T (p.Asn194=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1749428	NM_001040151.2(SCN3B):c.574C>G (p.Gln192Glu)	SCN3B (Q192E)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +1 more	GUncertain significance
Select item 1129101	NM_001040151.2(SCN3B):c.570A>G (p.Ala190=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7 +1 more	GLikely benign
Select item 994414	NM_001040151.2(SCN3B):c.568G>A (p.Ala190Thr)	SCN3B (A190T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2448565	NM_001040151.2(SCN3B):c.565G>A (p.Glu189Lys)	SCN3B (E189K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748746	NM_001040151.2(SCN3B):c.562G>A (p.Glu188Lys)	SCN3B (E188K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1152790	NM_001040151.2(SCN3B):c.561C>T (p.Ala187=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1937416	NM_001040151.2(SCN3B):c.541T>A (p.Tyr181Asn)	SCN3B (Y181N)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 519216	NM_001040151.2(SCN3B):c.537T>C (p.Tyr179=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7 +1 more	GBenign/Likely benign
Select item 1747068	NM_001040151.2(SCN3B):c.535T>C (p.Tyr179His)	SCN3B (Y179H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2714526	NM_001040151.2(SCN3B):c.525C>T (p.Ile175=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7	GLikely benign
Select item 2064572	NM_001040151.2(SCN3B):c.519G>T (p.Leu173=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7	GLikely benign
Select item 1745840	NM_001040151.2(SCN3B):c.517C>G (p.Leu173Val)	SCN3B (L173V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 389585	NM_001040151.2(SCN3B):c.489C>T (p.Tyr163=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1743697	NM_001040151.2(SCN3B):c.486G>A (p.Met162Ile)	SCN3B (M162I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743547	NM_001040151.2(SCN3B):c.484A>G (p.Met162Val)	SCN3B (M162V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 140598	NM_001040151.2(SCN3B):c.482T>C (p.Met161Thr)	SCN3B (M161T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 16	GPathogenic
Select item 1741428	NM_001040151.2(SCN3B):c.454G>A (p.Asp152Asn)	SCN3B (D152N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1056663	NM_001040151.2(SCN3B):c.446C>G (p.Ala149Gly)	SCN3B (A149G)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 752463	NM_001040151.2(SCN3B):c.446-4T>G	SCN3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1107382	NM_001040151.2(SCN3B):c.446-7C>G	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
Select item 675386	NM_001040151.2(SCN3B):c.446-204C>T	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275417	NM_001040151.2(SCN3B):c.445+197T>C	SCN3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3000956	NM_001040151.2(SCN3B):c.445+20T>G	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
Select item 741757	NM_001040151.2(SCN3B):c.445+8T>C	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
Select item 378923	NM_001040151.2(SCN3B):c.445+3G>A	SCN3B	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2563486	NM_001040151.2(SCN3B):c.441G>T (p.Glu147Asp)	SCN3B (E147D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1740287	NM_001040151.2(SCN3B):c.439G>A (p.Glu147Lys)	SCN3B (E147K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1740156	NM_001040151.2(SCN3B):c.438_439delinsTA (p.Glu147Lys)	SCN3B (E147K)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 261028	NM_001040151.2(SCN3B):c.438C>T (p.Thr146=)	SCN3B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

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