ClinVar for Gene (Select 55800) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 282

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3227135	NM_001040151.2(SCN3B):c.621G>A (p.Glu207=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227134	NM_001040151.2(SCN3B):c.597T>C (p.Leu199=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227133	NM_001040151.2(SCN3B):c.584+1G>A	SCN3B	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227132	NM_001040151.2(SCN3B):c.404T>C (p.Val135Ala)	SCN3B (V135A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227131	NM_001040151.2(SCN3B):c.391C>A (p.His131Asn)	SCN3B (H131N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227130	NM_001040151.2(SCN3B):c.380A>G (p.Glu127Gly)	SCN3B (E127G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227129	NM_001040151.2(SCN3B):c.334C>G (p.Leu112Val)	SCN3B (L112V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227128	NM_001040151.2(SCN3B):c.110A>G (p.Gln37Arg)	SCN3B (Q37R)	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 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063186	GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	ACRV1, BLID +73 more	Copy number loss	not specified	GPathogenic
Select item 3000956	NM_001040151.2(SCN3B):c.445+20T>G	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
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 2903804	NM_001040151.2(SCN3B):c.13A>G (p.Asn5Asp)	SCN3B (N5D)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +1 more	GUncertain significance
Select item 2855611	NM_001040151.2(SCN3B):c.39C>T (p.Leu13=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7	GLikely benign
Select item 2853703	NM_001040151.2(SCN3B):c.117C>G (p.Asn39Lys)	SCN3B (N39K)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 2741306	NM_001040151.2(SCN3B):c.173C>T (p.Thr58Met)	SCN3B (T58M)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 2732446	NM_001040151.2(SCN3B):c.192C>T (p.Tyr64=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7	GLikely benign
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 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642485	NM_001040151.2(SCN3B):c.214T>A (p.Phe72Ile)	SCN3B (F72I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2625611	NM_001040151.2(SCN3B):c.330C>T (p.Val110=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2625610	NM_001040151.2(SCN3B):c.130C>T (p.Arg44Cys)	SCN3B (R44C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2625609	NM_001040151.2(SCN3B):c.-4G>T	SCN3B	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 2605273	NM_001040151.2(SCN3B):c.370C>T (p.Arg124Trp)	SCN3B (R124W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2563487	NM_001040151.2(SCN3B):c.74T>C (p.Val25Ala)	SCN3B (V25A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
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 2448567	NM_001040151.2(SCN3B):c.291C>G (p.Ser97Arg)	SCN3B (S97R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448566	NM_001040151.2(SCN3B):c.384T>G (p.Phe128Leu)	SCN3B (F128L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2448564	NM_001040151.2(SCN3B):c.399C>A (p.Pro133=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2448563	NM_001040151.2(SCN3B):c.253G>C (p.Glu85Gln)	SCN3B (E85Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2428113	NM_001040151.2(SCN3B):c.55+11G>A	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
Select item 2426317	NC_000011.9:g.(?_123504851)_(126163012_?)del	ACRV1, CCDC15 +56 more	Deletion	not provided	GUncertain significance
Select item 2196926	NM_001040151.2(SCN3B):c.407A>G (p.Lys136Arg)	SCN3B (K136R)	Single nucleotide variant (missense variant)	Brugada syndrome 7	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 2164500	NM_001040151.2(SCN3B):c.139T>A (p.Ser47Thr)	SCN3B (S47T)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 2163931	NM_001040151.2(SCN3B):c.135C>T (p.Cys45=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7	GLikely benign
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 2123802	NM_001040151.2(SCN3B):c.322C>T (p.Leu108Phe)	SCN3B (L108F)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 2098552	NM_001040151.2(SCN3B):c.244C>T (p.Gln82Ter)	SCN3B (Q82*)	Single nucleotide variant (nonsense)	Brugada syndrome 7	GUncertain significance
Select item 2067333	NM_001040151.2(SCN3B):c.92C>T (p.Ser31Leu)	SCN3B (S31L)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
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 2062002	NM_001040151.2(SCN3B):c.411G>A (p.Thr137=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2029382	NM_001040151.2(SCN3B):c.27C>T (p.Pro9=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7	GLikely benign
Select item 1963606	NM_001040151.2(SCN3B):c.50A>G (p.Tyr17Cys)	SCN3B (Y17C)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 1961218	NM_001040151.2(SCN3B):c.95A>G (p.Glu32Gly)	SCN3B (E32G)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
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 1937416	NM_001040151.2(SCN3B):c.541T>A (p.Tyr181Asn)	SCN3B (Y181N)	Single nucleotide variant (missense variant)	Brugada syndrome 7	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 1899279	NM_001040151.2(SCN3B):c.436A>G (p.Thr146Ala)	SCN3B (T146A)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1799465	NM_001040151.2(SCN3B):c.306C>T (p.Asp102=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1798890	NM_001040151.2(SCN3B):c.301C>A (p.Gln101Lys)	SCN3B (Q101K)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +1 more	GUncertain significance
Select item 1795280	NM_001040151.2(SCN3B):c.272G>T (p.Arg91Leu)	SCN3B (R91L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1795275	NM_001040151.2(SCN3B):c.272G>A (p.Arg91His)	SCN3B (R91H)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +1 more	GUncertain significance
Select item 1794537	NM_001040151.2(SCN3B):c.266del (p.Gln89fs)	SCN3B (Q89fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1793487	NM_001040151.2(SCN3B):c.258C>T (p.Ser86=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7 +1 more	GLikely benign
Select item 1790858	NM_001040151.2(SCN3B):c.240C>T (p.Gly80=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1788577	NM_001040151.2(SCN3B):c.225C>T (p.Tyr75=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1783779	NM_001040151.2(SCN3B):c.197C>T (p.Pro66Leu)	SCN3B (P66L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783020	NM_001040151.2(SCN3B):c.193A>C (p.Arg65=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1763231	NM_001040151.2(SCN3B):c.83A>G (p.Glu28Gly)	SCN3B (E28G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1762423	NM_001040151.2(SCN3B):c.81G>C (p.Val27=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1758730	NM_001040151.2(SCN3B):c.73G>C (p.Val25Leu)	SCN3B (V25L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756559	NM_001040151.2(SCN3B):c.69C>T (p.Phe23=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1752726	NM_001040151.2(SCN3B):c.62T>C (p.Val21Ala)	SCN3B (V21A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1752575	NM_001040151.2(SCN3B):c.121A>G (p.Met41Val)	SCN3B (M41V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1749428	NM_001040151.2(SCN3B):c.574C>G (p.Gln192Glu)	SCN3B (Q192E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 1747068	NM_001040151.2(SCN3B):c.535T>C (p.Tyr179His)	SCN3B (Y179H)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +1 more	GUncertain significance
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 1744467	NM_001040151.2(SCN3B):c.118C>A (p.Pro40Thr)	SCN3B (P40T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1743186	NM_001040151.2(SCN3B):c.47T>C (p.Ile16Thr)	SCN3B (I16T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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 1738740	NM_001040151.2(SCN3B):c.420G>T (p.Leu140=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1734275	NM_001040151.2(SCN3B):c.371G>A (p.Arg124Gln)	SCN3B (R124Q)	Single nucleotide variant (missense variant)	Brugada syndrome 7 +1 more	GUncertain significance
Select item 1732561	NM_001040151.2(SCN3B):c.354C>G (p.Tyr118Ter)	SCN3B (Y118*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1730408	NM_001040151.2(SCN3B):c.333T>C (p.Thr111=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1727935	NM_001040151.2(SCN3B):c.312C>T (p.Ser104=)	SCN3B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1727635	NM_001040151.2(SCN3B):c.31_55+2del	SCN3B	Deletion (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1714500	NM_001040151.2(SCN3B):c.241C>T (p.His81Tyr)	SCN3B (H81Y)	Single nucleotide variant (missense variant)	Brugada syndrome 7	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1679730	Single allele	BSX, CLMP +52 more	Duplication	not provided	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 1677518	NM_001040151.2(SCN3B):c.186del (p.Trp62fs)	SCN3B (W62fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1677488	NM_001040151.2(SCN3B):c.341A>T (p.Asp114Val)	SCN3B (D114V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640661	NM_001040151.2(SCN3B):c.584+9A>C	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
Select item 1625799	NM_001040151.2(SCN3B):c.66C>T (p.Cys22=)	SCN3B	Single nucleotide variant (synonymous variant)	Brugada syndrome 7 +1 more	GLikely benign
Select item 1613444	NM_001040151.2(SCN3B):c.585-16C>T	SCN3B	Single nucleotide variant (intron variant)	Brugada syndrome 7	GLikely benign
Select item 1504135	NM_001040151.2(SCN3B):c.256del (p.Ser86fs)	SCN3B (S86fs)	Deletion (frameshift variant)	Brugada syndrome 7 +1 more	GUncertain significance

<< First< Prev

Page of 3