C3809312[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 126

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 947137	NM_004588.5(SCN2B):c.640G>A (p.Ala214Thr)	SCN2B (A214T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 1096955	NM_004588.5(SCN2B):c.639C>T (p.Gly213=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 60776	NM_004588.5(SCN2B):c.632A>G (p.Asp211Gly)	SCN2B (D211G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +2 more	GUncertain significance
Select item 1141620	NM_004588.5(SCN2B):c.630G>A (p.Pro210=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 191493	NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu)	SCN2B (P210L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +2 more	GConflicting classifications of pathogenicity
Select item 422854	NM_004588.5(SCN2B):c.625_626delinsCC (p.Asn209Pro)	SCN2B (N209P)	Indel (missense variant)	Atrial fibrillation, familial, 14 +2 more	GConflicting classifications of pathogenicity
Select item 1378025	NM_004588.5(SCN2B):c.622G>A (p.Gly208Ser)	SCN2B (G208S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1520112	NM_004588.5(SCN2B):c.616G>A (p.Gly206Ser)	SCN2B (G206S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 415258	NM_004588.5(SCN2B):c.615C>T (p.Asp205=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 1165438	NM_004588.5(SCN2B):c.612G>A (p.Thr204=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GBenign/Likely benign
Select item 655020	NM_004588.5(SCN2B):c.611C>T (p.Thr204Met)	SCN2B (T204M)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +2 more	GLikely benign
Select item 1086808	NM_004588.5(SCN2B):c.594C>T (p.Thr198=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2782512	NM_004588.5(SCN2B):c.585C>T (p.Asp195=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1749641	NM_004588.5(SCN2B):c.578C>T (p.Thr193Ile)	SCN2B (T193I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 408874	NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg)	SCN2B (T193R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2125336	NM_004588.5(SCN2B):c.573del (p.Ser192fs)	SCN2B (S192fs)	Deletion (frameshift variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1656896	NM_004588.5(SCN2B):c.567G>A (p.Gln189=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 839407	NM_004588.5(SCN2B):c.563A>G (p.Glu188Gly)	SCN2B (E188G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1125734	NM_004588.5(SCN2B):c.561A>G (p.Lys187=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2872162	NM_004588.5(SCN2B):c.546T>C (p.Cys182=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2739026	NM_004588.5(SCN2B):c.529C>T (p.Leu177=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1662577	NM_004588.5(SCN2B):c.523T>C (p.Leu175=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 2157748	NM_004588.5(SCN2B):c.522C>G (p.Ile174Met)	SCN2B (I174M)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2145196	NM_004588.5(SCN2B):c.508C>T (p.Leu170=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2713121	NM_004588.5(SCN2B):c.502G>T (p.Gly168Cys)	SCN2B (G168C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1665834	NM_004588.5(SCN2B):c.498C>G (p.Val166=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 515329	NM_004588.5(SCN2B):c.498C>T (p.Val166=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1597634	NM_004588.5(SCN2B):c.496G>A (p.Val166Ile)	SCN2B (V166I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1080323	NM_004588.5(SCN2B):c.495C>T (p.Ser165=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1913823	NM_004588.5(SCN2B):c.490G>A (p.Ala164Thr)	SCN2B (A164T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 264461	NM_004588.5(SCN2B):c.478G>A (p.Val160Met)	SCN2B (V160M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 510283	NM_004588.5(SCN2B):c.477C>T (p.Ala159=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 700158	NM_004588.5(SCN2B):c.470C>T (p.Thr157Met)	SCN2B (T157M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 544054	NM_004588.5(SCN2B):c.461G>A (p.Arg154Gln)	SCN2B (R154Q)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 1741629	NM_004588.5(SCN2B):c.457G>A (p.Glu153Lys)	SCN2B (E153K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1439728	NM_004588.5(SCN2B):c.452C>A (p.Pro151His)	SCN2B (P151H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 1643652	NM_004588.5(SCN2B):c.449-13_449-12delinsAA	SCN2B	Indel (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 259446	NM_004588.5(SCN2B):c.449-12C>A	SCN2B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2827596	NM_004588.5(SCN2B):c.449-15C>T	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2148966	NM_004588.5(SCN2B):c.448+13G>A	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1403985	NM_004588.5(SCN2B):c.448+6G>C	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3023527	NM_004588.5(SCN2B):c.446A>G (p.Glu149Gly)	SCN2B (E149G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 2888742	NM_004588.5(SCN2B):c.420C>T (p.Gly140=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2841250	NM_004588.5(SCN2B):c.419G>A (p.Gly140Asp)	SCN2B (G140D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1023340	NM_004588.5(SCN2B):c.412G>A (p.Gly138Ser)	SCN2B (G138S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 239959	NM_004588.5(SCN2B):c.410G>A (p.Arg137His)	SCN2B (R137H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 508347	NM_004588.5(SCN2B):c.408C>T (p.His136=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1910186	NM_004588.5(SCN2B):c.396C>T (p.Pro132=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1497551	NM_004588.5(SCN2B):c.388A>T (p.Met130Leu)	SCN2B (M130L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2848304	NM_004588.5(SCN2B):c.367G>A (p.Gly123Arg)	SCN2B (G123R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 512603	NM_004588.5(SCN2B):c.357G>A (p.Pro119=)	SCN2B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 510700	NM_004588.5(SCN2B):c.356C>T (p.Pro119Leu)	SCN2B (P119L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1123965	NM_004588.5(SCN2B):c.354G>A (p.Gln118=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 477770	NM_004588.5(SCN2B):c.349G>A (p.Val117Met)	SCN2B (V117M)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 765649	NM_004588.5(SCN2B):c.348C>T (p.Asn116=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2757092	NM_004588.5(SCN2B):c.346A>G (p.Asn116Asp)	SCN2B (N116D)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1440200	NM_004588.5(SCN2B):c.344G>A (p.Arg115Lys)	SCN2B (R115K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1427799	NM_004588.5(SCN2B):c.343A>G (p.Arg115Gly)	SCN2B (R115G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 701161	NM_004588.5(SCN2B):c.340C>T (p.Leu114=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1730893	NM_004588.5(SCN2B):c.338T>C (p.Met113Thr)	SCN2B (M113T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 1540255	NM_004588.5(SCN2B):c.327T>C (p.Asp109=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 1729515	NM_004588.5(SCN2B):c.325G>A (p.Asp109Asn)	SCN2B (D109N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1142978	NM_004588.5(SCN2B):c.324C>T (p.Tyr108=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1926273	NM_004588.5(SCN2B):c.321G>A (p.Lys107=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2848763	NM_004588.5(SCN2B):c.303C>T (p.Phe101=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1399650	NM_004588.5(SCN2B):c.299A>G (p.Glu100Gly)	SCN2B (E100G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1370529	NM_004588.5(SCN2B):c.295G>T (p.Val99Leu)	SCN2B (V99L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 666404	NM_004588.5(SCN2B):c.295G>A (p.Val99Met)	SCN2B (V99M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1059103	NM_004588.5(SCN2B):c.292C>T (p.Arg98Cys)	SCN2B (R98C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 408877	NM_004588.5(SCN2B):c.292C>G (p.Arg98Gly)	SCN2B (R98G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 2745826	NM_004588.5(SCN2B):c.290A>G (p.Asp97Gly)	SCN2B (D97G)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 935689	NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln)	SCN2B (R94Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2159616	NM_004588.5(SCN2B):c.274C>G (p.Leu92Val)	SCN2B (L92V)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2134741	NM_004588.5(SCN2B):c.268C>T (p.Leu90=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1396947	NM_004588.5(SCN2B):c.267C>G (p.Asn89Lys)	SCN2B (N89K)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 956126	NM_004588.5(SCN2B):c.255G>T (p.Met85Ile)	SCN2B (M85I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 408878	NM_004588.5(SCN2B):c.251G>A (p.Arg84His)	SCN2B (R84H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 408876	NM_004588.5(SCN2B):c.250C>T (p.Arg84Cys)	SCN2B (R84C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 477769	NM_004588.5(SCN2B):c.238-6C>T	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 2904648	NM_004588.5(SCN2B):c.238-18C>T	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1608710	NM_004588.5(SCN2B):c.237+19G>A	SCN2B	Single nucleotide variant (intron variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 1022738	NM_004588.5(SCN2B):c.237G>C (p.Met79Ile)	SCN2B (M79I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1514438	NM_004588.5(SCN2B):c.236T>C (p.Met79Thr)	SCN2B (M79T)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 518839	NM_004588.5(SCN2B):c.205T>C (p.Tyr69His)	SCN2B (Y69H)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GUncertain significance
Select item 2496755	NM_004588.5(SCN2B):c.191C>T (p.Ser64Phe)	SCN2B (S64F)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +1 more	GConflicting classifications of pathogenicity
Select item 1776082	NM_004588.5(SCN2B):c.159C>T (p.Asn53=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 1575542	NM_004588.5(SCN2B):c.156C>T (p.Phe52=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14	GLikely benign
Select item 972271	NM_004588.5(SCN2B):c.154T>C (p.Phe52Leu)	SCN2B (F52L)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 1414774	NM_004588.5(SCN2B):c.152C>T (p.Thr51Ile)	SCN2B (T51I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 415259	NM_004588.5(SCN2B):c.150C>T (p.Cys50=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 1630435	NM_004588.5(SCN2B):c.144G>A (p.Leu48=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 408875	NM_004588.5(SCN2B):c.140G>A (p.Arg47His)	SCN2B (R47H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2195149	NM_004588.5(SCN2B):c.139C>T (p.Arg47Cys)	SCN2B (R47C)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 510784	NM_004588.5(SCN2B):c.135C>T (p.Asp45=)	SCN2B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 508188	NM_004588.5(SCN2B):c.129C>T (p.Gly43=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1153544	NM_004588.5(SCN2B):c.126T>C (p.Asn42=)	SCN2B	Single nucleotide variant (synonymous variant)	Atrial fibrillation, familial, 14 +1 more	GLikely benign
Select item 1445540	NM_004588.5(SCN2B):c.125A>G (p.Asn42Ser)	SCN2B (N42S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance
Select item 191494	NM_004588.5(SCN2B):c.118G>A (p.Val40Ile)	SCN2B (V40I)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14 +2 more	GUncertain significance
Select item 1741726	NM_004588.5(SCN2B):c.117C>T (p.Asn39=)	SCN2B	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2152642	NM_004588.5(SCN2B):c.116A>G (p.Asn39Ser)	SCN2B (N39S)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 14	GUncertain significance

<< First< Prev

Page of 2