ClinVar for Gene (Select 6330) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022905	NM_174934.4(SCN4B):c.62-19G>T	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	Long QT syndrome 10	GBenign
Select item 3022695	NM_174934.4(SCN4B):c.463+1G>A	LOC126861356, SCN4B	Single nucleotide variant (intron variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 3019786	NM_174934.4(SCN4B):c.554A>G (p.Lys185Arg)	SCN4B (K185R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 3014453	NM_174934.4(SCN4B):c.620G>T (p.Gly207Val)	SCN4B (G207V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 2988268	NM_174934.4(SCN4B):c.42G>T (p.Trp14Cys)	SCN4B (W14C)	Single nucleotide variant (missense variant)	Long QT syndrome 10	GUncertain significance
Select item 2973747	NM_174934.4(SCN4B):c.331A>T (p.Met111Leu)	LOC126861356, SCN4B (M1L +1 more)	Single nucleotide variant (missense variant +2 more)	Long QT syndrome 10	GUncertain significance
Select item 2963264	NM_174934.4(SCN4B):c.62-15G>C	SCN4B, LOC130006838	Single nucleotide variant (5 prime UTR variant +2 more)	Long QT syndrome 10	GLikely benign
Select item 2897184	NM_174934.4(SCN4B):c.61+14A>G	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 2886631	NM_174934.4(SCN4B):c.594-7T>A	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 2882194	NM_174934.4(SCN4B):c.647C>G (p.Pro216Arg)	SCN4B (P106R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 2844385	NM_174934.4(SCN4B):c.305C>A (p.Thr102Asn)	LOC126861356, SCN4B (T102N)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 2843439	NM_174934.4(SCN4B):c.160A>C (p.Thr54Pro)	SCN4B (T54P)	Single nucleotide variant (missense variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 2829978	NM_174934.4(SCN4B):c.661G>C (p.Glu221Gln)	SCN4B (E87Q +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 2824632	NM_174934.4(SCN4B):c.676del (p.Ser226fs)	SCN4B (S116fs +2 more)	Deletion (frameshift variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 2795351	NM_174934.4(SCN4B):c.61+15G>C	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 2767036	NM_174934.4(SCN4B):c.62-7T>C	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	Long QT syndrome 10	GLikely benign
Select item 2753946	NM_174934.4(SCN4B):c.652T>G (p.Ser218Ala)	SCN4B (S218A +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 2702264	NM_174934.4(SCN4B):c.584G>A (p.Arg195Gln)	SCN4B (R61Q +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642411	NM_174934.4(SCN4B):c.987_989dup	SCN4B	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2626178	NM_174934.4(SCN4B):c.2T>G (p.Met1Arg)	SCN4B (M1R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2625086	NM_174934.4(SCN4B):c.234+1G>T	SCN4B	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2619522	NM_174934.4(SCN4B):c.231G>C (p.Lys77Asn)	SCN4B (K77N)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2562713	NM_174934.4(SCN4B):c.345C>T (p.Ser115=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2562712	NM_174934.4(SCN4B):c.610A>G (p.Ser204Gly)	SCN4B (S94G +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2562710	NM_174934.4(SCN4B):c.501G>A (p.Leu167=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2562709	NM_174934.4(SCN4B):c.492C>T (p.Leu164=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2562708	NM_174934.4(SCN4B):c.183C>G (p.Phe61Leu)	SCN4B (F61L)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447645	NM_174934.4(SCN4B):c.78C>G (p.Pro26=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 2447644	NM_174934.4(SCN4B):c.75C>G (p.Leu25=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 2447643	NM_174934.4(SCN4B):c.455T>C (p.Val152Ala)	LOC126861356, SCN4B (V42A +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2427531	NC_000011.9:g.(?_118014528)_(118015964_?)del	SCN4B	Deletion	Long QT syndrome 10	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	Inflammatory bowel disease 28 +5 more	GUncertain significance
Select item 2191803	NM_174934.4(SCN4B):c.133A>C (p.Asn45His)	SCN4B (N45H)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 2166933	NM_174934.4(SCN4B):c.241_242delinsTT (p.Glu81Leu)	LOC126861356, SCN4B (E81L)	Indel (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 2085251	NM_174934.4(SCN4B):c.264G>T (p.Lys88Asn)	LOC126861356, SCN4B (K88N)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 2081457	NM_174934.4(SCN4B):c.411G>A (p.Lys137=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10	GLikely benign
Select item 2071335	NM_174934.4(SCN4B):c.298C>A (p.Arg100Ser)	LOC126861356, SCN4B (R100S)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 2024901	NM_174934.4(SCN4B):c.464-14C>T	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 1949541	NM_174934.4(SCN4B):c.396T>C (p.His132=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 1949377	NM_174934.4(SCN4B):c.270C>T (p.Asp90=)	LOC126861356, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GLikely benign
Select item 1913010	NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)	SCN4B (N103fs +2 more)	Microsatellite (frameshift variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 1906789	NM_174934.4(SCN4B):c.235-20C>T	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 1895481	NM_174934.4(SCN4B):c.594-15T>C	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 1804895	NM_174934.4(SCN4B):c.377C>T (p.Thr126Met)	LOC126861356, SCN4B (T126M +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 1797678	NM_174934.4(SCN4B):c.291C>T (p.Asp97=)	LOC126861356, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1796568	NM_174934.4(SCN4B):c.282G>A (p.Thr94=)	LOC126861356, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1792199	NM_174934.4(SCN4B):c.24C>A (p.Gly8=)	SCN4B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1789849	NM_174934.4(SCN4B):c.234+1G>C	SCN4B	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1789277	NM_174934.4(SCN4B):c.23_24delinsAA (p.Gly8Glu)	SCN4B (G8E)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1788256	NM_174934.4(SCN4B):c.223G>A (p.Ala75Thr)	SCN4B (A75T)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1788069	NM_174934.4(SCN4B):c.222C>T (p.Asp74=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1784384	NM_174934.4(SCN4B):c.200G>A (p.Arg67Gln)	SCN4B (R67Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1781116	NM_174934.4(SCN4B):c.183C>T (p.Phe61=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1776721	NM_174934.4(SCN4B):c.104T>C (p.Val35Ala)	SCN4B (V35A)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1770891	NM_174934.4(SCN4B):c.102T>C (p.Ser34=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1765811	NM_174934.4(SCN4B):c.90G>T (p.Ser30=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 1761595	NM_174934.4(SCN4B):c.7G>A (p.Gly3Arg)	SCN4B (G3R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755885	NM_174934.4(SCN4B):c.686G>C (p.Ter229Ser)	SCN4B	Single nucleotide variant (stop lost +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1755180	NM_174934.4(SCN4B):c.673C>G (p.Pro225Ala)	SCN4B (P115A +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1753428	NM_174934.4(SCN4B):c.641G>T (p.Gly214Val)	SCN4B (G80V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1753299	NM_174934.4(SCN4B):c.63C>T (p.Gly21=)	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 1752952	NM_174934.4(SCN4B):c.633G>C (p.Thr211=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1751065	NM_174934.4(SCN4B):c.600G>A (p.Glu200=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1750354	NM_174934.4(SCN4B):c.589A>T (p.Lys197Ter)	SCN4B (K197* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1749200	NM_174934.4(SCN4B):c.570C>A (p.Ile190=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1748349	NM_174934.4(SCN4B):c.556C>G (p.Leu186Val)	SCN4B (L76V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1747975	NM_174934.4(SCN4B):c.55_56delinsGA (p.Leu19Asp)	SCN4B (L19D)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747205	NM_174934.4(SCN4B):c.538A>C (p.Ile180Leu)	SCN4B (I46L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1746930	NM_174934.4(SCN4B):c.533T>C (p.Ile178Thr)	SCN4B (I44T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1745261	NM_174934.4(SCN4B):c.508G>A (p.Val170Met)	SCN4B (V60M +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 1745090	NM_174934.4(SCN4B):c.505G>A (p.Val169Ile)	SCN4B (V35I +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 1744171	NM_174934.4(SCN4B):c.492C>G (p.Leu164=)	SCN4B	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1744112	NM_174934.4(SCN4B):c.491T>A (p.Leu164His)	SCN4B (L164H +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1744052	NM_174934.4(SCN4B):c.491_492delinsAG (p.Leu164Gln)	SCN4B (L164Q +2 more)	Indel (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1741691	NM_174934.4(SCN4B):c.458A>G (p.Asp153Gly)	LOC126861356, SCN4B (D43G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1741199	NM_174934.4(SCN4B):c.451G>A (p.Val151Ile)	SCN4B, LOC126861356 (V151I +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1740270	NM_174934.4(SCN4B):c.439A>T (p.Ile147Phe)	LOC126861356, SCN4B (I147F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1737182	NM_174934.4(SCN4B):c.402G>A (p.Lys134=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1736491	NM_174934.4(SCN4B):c.395A>G (p.His132Arg)	LOC126861356, SCN4B (H132R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1734465	NM_174934.4(SCN4B):c.373G>C (p.Asp125His)	LOC126861356, SCN4B (D125H +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1734075	NM_174934.4(SCN4B):c.36G>A (p.Ala12=)	SCN4B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733952	NM_174934.4(SCN4B):c.368T>A (p.Phe123Tyr)	LOC126861356, SCN4B (F123Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1730700	NM_174934.4(SCN4B):c.336C>G (p.Asn112Lys)	LOC126861356, SCN4B (N112K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1727931	NM_174934.4(SCN4B):c.312A>G (p.Val104=)	LOC126861356, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1700892	NM_174934.4(SCN4B):c.433G>A (p.Ala145Thr)	LOC126861356, SCN4B (A145T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1677723	NM_174934.4(SCN4B):c.468del (p.Glu157fs)	SCN4B (E157fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1661611	NM_174934.4(SCN4B):c.546G>A (p.Leu182=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1655214	NM_174934.4(SCN4B):c.234+14G>A	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 1630817	NM_174934.4(SCN4B):c.627C>T (p.Asp209=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10	GLikely benign
Select item 1629425	NM_174934.4(SCN4B):c.62-13G>A	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	Long QT syndrome 10	GLikely benign
Select item 1627813	NM_174934.4(SCN4B):c.630C>T (p.Asn210=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1596946	NM_174934.4(SCN4B):c.594-17TC[2]	SCN4B	Microsatellite (intron variant)	Long QT syndrome 10	GLikely benign
Select item 1580191	NM_174934.4(SCN4B):c.33G>A (p.Pro11=)	SCN4B	Single nucleotide variant (synonymous variant)	Long QT syndrome 10	GLikely benign
Select item 1563650	NM_174934.4(SCN4B):c.593+10T>C	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 1554887	NM_174934.4(SCN4B):c.348T>C (p.Ile116=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10	GLikely benign
Select item 1537086	NM_174934.4(SCN4B):c.555A>G (p.Lys185=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10	GLikely benign
Select item 1524046	NM_174934.4(SCN4B):c.658G>A (p.Ala220Thr)	SCN4B (A110T +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance

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