C2678484[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 134

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
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 1176917	NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys)	SCN4B (G107C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
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 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 702477	NM_174934.4(SCN4B):c.640G>A (p.Gly214Ser)	SCN4B (G80S +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 139036	NM_174934.4(SCN4B):c.639C>T (p.Asn213=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign
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 778702	NM_174934.4(SCN4B):c.633G>A (p.Thr211=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1214344	NM_174934.4(SCN4B):c.632C>T (p.Thr211Met)	SCN4B (T101M +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	GUncertain significance
Select item 190895	NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)	SCN4B (T211R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 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 1166800	NM_174934.4(SCN4B):c.624T>C (p.Asn208=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
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 191380	NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)	SCN4B (S206L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 560693	NM_174934.4(SCN4B):c.613T>C (p.Ser205Pro)	SCN4B (S205P +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 191547	NM_174934.4(SCN4B):c.607G>A (p.Val203Met)	SCN4B (V203M +2 more)	Single nucleotide variant (missense variant +1 more)	SCN4B-related condition +6 more	GConflicting classifications of pathogenicity
Select item 390571	NM_174934.4(SCN4B):c.606C>T (p.Leu202=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +2 more	GLikely benign
Select item 1040302	NM_174934.4(SCN4B):c.599A>G (p.Glu200Gly)	SCN4B (E66G +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 1128153	NM_174934.4(SCN4B):c.597G>A (p.Lys199=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10	GLikely benign
Select item 403961	NM_174934.4(SCN4B):c.596A>G (p.Lys199Arg)	SCN4B (K199R +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 264183	NM_174934.4(SCN4B):c.594-2A>G	SCN4B	Single nucleotide variant (splice acceptor variant)	Long QT syndrome 10 +3 more	GUncertain significance
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 1596946	NM_174934.4(SCN4B):c.594-17TC[2]	SCN4B	Microsatellite (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 1563650	NM_174934.4(SCN4B):c.593+10T>C	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 496553	NM_174934.4(SCN4B):c.589A>G (p.Lys197Glu)	SCN4B (K197E +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +1 more	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 518541	NM_174934.4(SCN4B):c.583C>T (p.Arg195Trp)	SCN4B (R195W +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 704156	NM_174934.4(SCN4B):c.579G>A (p.Lys193=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
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 537384	NM_174934.4(SCN4B):c.568A>C (p.Ile190Leu)	SCN4B (I190L +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
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 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 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 403962	NM_174934.4(SCN4B):c.544C>G (p.Leu182Val)	SCN4B (L182V +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 948418	NM_174934.4(SCN4B):c.531CATCCT[1] (p.178IL[1])	SCN4B	Microsatellite (inframe_deletion +1 more)	Long QT syndrome 10	GUncertain significance
Select item 420671	NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro)	SCN4B (L181P +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10 +2 more	GConflicting classifications of pathogenicity
Select item 574219	NM_174934.4(SCN4B):c.520A>G (p.Ile174Val)	SCN4B (I174V +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1439146	NM_174934.4(SCN4B):c.513C>T (p.Gly171=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
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 242025	NM_174934.4(SCN4B):c.507C>T (p.Val169=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10	GLikely benign
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 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 302646	NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)	SCN4B (T161R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 378537	NM_174934.4(SCN4B):c.480C>T (p.Asn160=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1037322	NM_174934.4(SCN4B):c.475G>C (p.Asp159His)	SCN4B (D25H +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 1397893	NM_174934.4(SCN4B):c.469G>C (p.Glu157Gln)	SCN4B (E157Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1387437	NM_174934.4(SCN4B):c.464-11G>A	SCN4B	Single nucleotide variant (intron variant)	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 518866	NM_174934.4(SCN4B):c.463+3A>T	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
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 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 506980	NM_174934.4(SCN4B):c.432C>T (p.His144=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
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 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 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 517068	NM_174934.4(SCN4B):c.378G>A (p.Thr126=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
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 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 929093	NM_174934.4(SCN4B):c.372C>T (p.Ser124=)	LOC126861356, SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 190894	NM_174934.4(SCN4B):c.281C>T (p.Thr94Met)	LOC126861356, SCN4B (T94M)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +2 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 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 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 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 1484623	NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys)	LOC126861356, SCN4B (E87K)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype +1 more	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 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 697975	NM_174934.4(SCN4B):c.235-7C>T	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
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 190893	NM_174934.4(SCN4B):c.235-18A>G	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1655214	NM_174934.4(SCN4B):c.234+14G>A	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 1414065	NM_174934.4(SCN4B):c.234+1G>A	SCN4B	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1462958	NM_174934.4(SCN4B):c.233T>G (p.Ile78Ser)	SCN4B (I78S)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
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 1058880	NM_174934.4(SCN4B):c.200G>T (p.Arg67Leu)	SCN4B (R67L)	Single nucleotide variant (missense variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 1059291	NM_174934.4(SCN4B):c.198C>G (p.Phe66Leu)	SCN4B (F66L)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 190891	NM_174934.4(SCN4B):c.194A>T (p.His65Leu)	SCN4B (H65L)	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 139037	NM_174934.4(SCN4B):c.174C>T (p.Cys58=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign

<< First< Prev

Page of 2