ClinVar for MedGen (Select 394836) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3709277	NM_174934.4(SCN4B):c.61+15G>T	SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 3703030	NM_174934.4(SCN4B):c.15G>A (p.Gly5=)	SCN4B	Single nucleotide variant (synonymous variant)	Long QT syndrome 10	GLikely benign
Select item 3677501	NM_174934.4(SCN4B):c.518T>C (p.Val173Ala)	SCN4B (V173A +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 3666490	NM_174934.4(SCN4B):c.214A>G (p.Ser72Gly)	SCN4B (S72G)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 3659125	NM_174934.4(SCN4B):c.221A>G (p.Asp74Gly)	SCN4B (D74G)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 3658415	NM_174934.4(SCN4B):c.645G>A (p.Leu215=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10	GLikely benign
Select item 3651571	NM_174934.4(SCN4B):c.409A>G (p.Lys137Glu)	LOC126861356, SCN4B (K137E +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 10	GUncertain significance
Select item 3628134	NM_174934.4(SCN4B):c.193C>T (p.His65Tyr)	SCN4B (H65Y)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 3625476	NM_174934.4(SCN4B):c.137G>A (p.Gly46Asp)	SCN4B (G46D)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
Select item 3622656	NM_174934.4(SCN4B):c.463+20A>G	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10	GLikely benign
Select item 3438238	NM_174934.4(SCN4B):c.201G>C (p.Arg67=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +1 more	GLikely benign
Select item 3244659	NC_000011.9:g.(?_118007742)_(118023388_?)dup	SCN4B	Duplication	Long QT syndrome 10	GUncertain significance
Select item 3244658	NC_000011.9:g.(?_118007742)_(118007855_?)del	SCN4B	Deletion	Long QT syndrome 10	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 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	LOC130006838, SCN4B	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 +1 more	GUncertain significance
Select item 2843439	NM_174934.4(SCN4B):c.160A>C (p.Thr54Pro)	SCN4B (T54P)	Single nucleotide variant (5 prime UTR 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 +1 more	GConflicting classifications of pathogenicity
Select item 2619522	NM_174934.4(SCN4B):c.231G>C (p.Lys77Asn)	SCN4B (K77N)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +1 more	GUncertain significance
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 2562710	NM_174934.4(SCN4B):c.501G>A (p.Leu167=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +1 more	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 +1 more	GLikely benign
Select item 2427531	NC_000011.9:g.(?_118014528)_(118015964_?)del	SCN4B	Deletion	Long QT syndrome 10	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 +1 more	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 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=)	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 1913010	NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)	SCN4B (N103fs +2 more)	Microsatellite (frameshift variant +1 more)	Cardiovascular phenotype +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)	not specified +2 more	GBenign/Likely 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 1776721	NM_174934.4(SCN4B):c.104T>C (p.Val35Ala)	SCN4B (V35A)	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10 +1 more	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 1749200	NM_174934.4(SCN4B):c.570C>A (p.Ile190=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1745090	NM_174934.4(SCN4B):c.505G>A (p.Val169Ile)	SCN4B (V35I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1661611	NM_174934.4(SCN4B):c.546G>A (p.Leu182=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome 10 +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 +1 more	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
Select item 1504160	NM_174934.4(SCN4B):c.171C>A (p.Ser57Arg)	SCN4B (S57R)	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 (5 prime UTR variant +3 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1465710	NM_174934.4(SCN4B):c.103G>A (p.Val35Met)	SCN4B (V35M)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +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 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 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 1403433	NM_174934.4(SCN4B):c.272C>A (p.Pro91His)	LOC126861356, SCN4B (P91H)	Single nucleotide variant (5 prime UTR variant +3 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)	Long QT syndrome 10 +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 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 1292196	NM_174934.4(SCN4B):c.618G>A (p.Ser206=)	SCN4B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1270816	NM_174934.4(SCN4B):c.235-13C>T	LOC126861356, SCN4B	Single nucleotide variant (intron variant)	Long QT syndrome 10 +1 more	GBenign/Likely benign
Select item 1214344	NM_174934.4(SCN4B):c.632C>T (p.Thr211Met)	SCN4B (T101M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1211576	NM_174934.4(SCN4B):c.347T>C (p.Ile116Thr)	LOC126861356, SCN4B (I116T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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)	not provided +2 more	GUncertain significance
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 1143588	NM_174934.4(SCN4B):c.75C>T (p.Leu25=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GLikely benign
Select item 1141655	NM_174934.4(SCN4B):c.21A>G (p.Gly7=)	SCN4B	Single nucleotide variant (synonymous variant)	Long QT syndrome 10 +1 more	GLikely benign
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 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 1107285	NM_174934.4(SCN4B):c.156C>G (p.Pro52=)	SCN4B	Single nucleotide variant (5 prime UTR variant +3 more)	Long QT syndrome 10	GLikely benign
Select item 1059291	NM_174934.4(SCN4B):c.198C>G (p.Phe66Leu)	SCN4B (F66L)	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 (5 prime UTR variant +3 more)	Long QT syndrome 10	GUncertain significance
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 +1 more	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 +1 more	GUncertain significance
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 1037322	NM_174934.4(SCN4B):c.475G>C (p.Asp159His)	SCN4B (D25H +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	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

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