Related gene-specific medical variations for Gene (Select 6330) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3229288	NM_174934.4(SCN4B):c.445C>T (p.Leu149Phe)	LOC126861356, SCN4B (L149F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 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 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 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 2562713	NM_174934.4(SCN4B):c.345C>T (p.Ser115=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	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 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)	Cardiovascular phenotype +1 more	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 1949541	NM_174934.4(SCN4B):c.396T>C (p.His132=)	SCN4B, LOC126861356	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 1906789	NM_174934.4(SCN4B):c.235-20C>T	LOC126861356, 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)	Long QT syndrome 10 +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 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 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)	LOC126861356, SCN4B (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)	SCN4B, LOC126861356 (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)	SCN4B, LOC126861356 (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 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 1700892	NM_174934.4(SCN4B):c.433G>A (p.Ala145Thr)	SCN4B, LOC126861356 (A145T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
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 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 1484623	NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys)	LOC126861356, SCN4B (E87K)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 1403433	NM_174934.4(SCN4B):c.272C>A (p.Pro91His)	LOC126861356, SCN4B (P91H)	Single nucleotide variant (missense variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 1365345	NM_174934.4(SCN4B):c.463C>T (p.Leu155=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 1363895	NM_174934.4(SCN4B):c.346del (p.Ile116fs)	LOC126861356, SCN4B (I116fs +1 more)	Deletion (frameshift variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 1341769	NM_174934.4(SCN4B):c.61+1144T>A	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GUncertain significance
Select item 1283793	NM_174934.4(SCN4B):c.235-115T>A	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270816	NM_174934.4(SCN4B):c.235-13C>T	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1211576	NM_174934.4(SCN4B):c.347T>C (p.Ile116Thr)	LOC126861356, SCN4B (I116T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1182469	NM_174934.4(SCN4B):c.62-79C>A	SCN4B, LOC130006838	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1139205	NM_174934.4(SCN4B):c.62-5C>T	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	Long QT syndrome 10	GLikely benign
Select item 1131553	NM_174934.4(SCN4B):c.294T>C (p.Asp98=)	LOC126861356, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GLikely benign
Select item 1057377	NM_174934.4(SCN4B):c.266C>G (p.Ser89Cys)	LOC126861356, SCN4B (S89C)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 1040559	NM_174934.4(SCN4B):c.62-1G>A	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 970001	NM_174934.4(SCN4B):c.286A>G (p.Lys96Glu)	LOC126861356, SCN4B (K96E)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 961525	NM_174934.4(SCN4B):c.373G>A (p.Asp125Asn)	LOC126861356, SCN4B (D125N +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 960482	NM_174934.4(SCN4B):c.299G>C (p.Arg100Pro)	LOC126861356, SCN4B (R100P)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 945872	NM_174934.4(SCN4B):c.359A>G (p.Asp120Gly)	LOC126861356, SCN4B (D120G +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 929093	NM_174934.4(SCN4B):c.372C>T (p.Ser124=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +2 more	GLikely benign
Select item 841169	NM_174934.4(SCN4B):c.353T>C (p.Leu118Pro)	LOC126861356, SCN4B (L8P +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 811996	NM_174934.4(SCN4B):c.62-16G>A	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 697975	NM_174934.4(SCN4B):c.235-7C>T	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 673583	NM_174934.4(SCN4B):c.235-97G>A	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 649165	NM_174934.4(SCN4B):c.299G>A (p.Arg100His)	LOC126861356, SCN4B (R100H)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 637988	NM_174934.4(SCN4B):c.298C>T (p.Arg100Cys)	LOC126861356, SCN4B (R100C)	Single nucleotide variant (missense variant +3 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 537383	NM_174934.4(SCN4B):c.376A>G (p.Thr126Ala)	LOC126861356, SCN4B (T126A +1 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 519268	NM_174934.4(SCN4B):c.335ACA[1] (p.Asn113del)	LOC126861356, SCN4B (N113del +1 more)	Microsatellite (inframe_deletion +1 more)	Cardiovascular phenotype	GLikely benign
Select item 518866	NM_174934.4(SCN4B):c.463+3A>T	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 517068	NM_174934.4(SCN4B):c.378G>A (p.Thr126=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +3 more	GLikely benign
Select item 506980	NM_174934.4(SCN4B):c.432C>T (p.His144=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 452457	NM_174934.4(SCN4B):c.397G>A (p.Val133Met)	LOC126861356, SCN4B (V133M +1 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 403419	NM_174934.4(SCN4B):c.62-124G>A	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 403418	NM_174934.4(SCN4B):c.62-95C>T	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 397545	NM_174934.4(SCN4B):c.271C>A (p.Pro91Thr)	LOC126861356, SCN4B (P91T)	Single nucleotide variant (5 prime UTR variant +3 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 302647	NM_174934.4(SCN4B):c.362T>C (p.Leu121Pro)	LOC126861356, SCN4B (L121P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 242024	NM_174934.4(SCN4B):c.239T>C (p.Ile80Thr)	LOC126861356, SCN4B (I80T)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 190899	NM_174934.4(SCN4B):c.454G>A (p.Val152Ile)	LOC126861356, SCN4B (V152I +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 190898	NM_174934.4(SCN4B):c.463+5G>A	SCN4B, LOC126861356	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 190894	NM_174934.4(SCN4B):c.281C>T (p.Thr94Met)	LOC126861356, SCN4B (T94M)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +2 more	GUncertain significance
Select item 190893	NM_174934.4(SCN4B):c.235-18A>G	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 71