"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ANK2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190590	NM_001148.6(ANK2):c.80A>C (p.Lys27Thr)	ANK2 (K27T)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 657522	NM_001148.6(ANK2):c.158G>C (p.Gly53Ala)	ANK2 (G32A +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1010772	NM_001148.6(ANK2):c.229G>A (p.Val77Met)	ANK2 (V56M +5 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1575670	NM_001148.6(ANK2):c.285+12G>A	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GLikely benign
Select item 35688	NM_001148.6(ANK2):c.384+19C>T	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign
Select item 624569	NM_001148.6(ANK2):c.767G>C (p.Gly256Ala)	ANK2 (G235A +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 518493	NM_001148.6(ANK2):c.805C>T (p.Pro269Ser)	ANK2 (P248S +8 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 190538	NM_001148.6(ANK2):c.827G>A (p.Arg276Lys)	ANK2 (R255K +8 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 527005	NM_001148.6(ANK2):c.877G>A (p.Asp293Asn)	ANK2 (D293N +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GConflicting classifications of pathogenicity
Select item 973034	NM_001148.6(ANK2):c.1069C>T (p.Pro357Ser)	ANK2 (P353S +8 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 519400	NM_001148.6(ANK2):c.1111G>A (p.Val371Ile)	ANK2 (V350I +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
Select item 190541	NM_001148.6(ANK2):c.1118C>T (p.Ala373Val)	ANK2 (A352V +8 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 190542	NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)	ANK2 (R358C +8 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 661101	NM_001148.6(ANK2):c.1136G>A (p.Arg379His)	ANK2 (R350H +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 190592	NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu)	ANK2 (R358L +8 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 652557	NM_001148.6(ANK2):c.1364C>A (p.Ala455Asp)	ANK2 (A441D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 190546	NM_001148.6(ANK2):c.1397C>T (p.Thr466Met)	ANK2 (T445M +11 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1443969	NM_001148.6(ANK2):c.1474G>A (p.Ala492Thr)	ANK2 (A463T +11 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 390500	NM_001148.6(ANK2):c.1613C>T (p.Ala538Val)	ANK2 (A517V +11 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 406474	NM_001148.6(ANK2):c.1664C>T (p.Ala555Val)	ANK2 (A555V +11 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
Select item 384318	NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)	ANK2 (L537S +11 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 945979	NM_001148.6(ANK2):c.1756C>T (p.Arg586Cys)	ANK2 (R491C +11 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 519211	NM_001148.6(ANK2):c.1863C>G (p.Ser621=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 1024600	NM_001148.6(ANK2):c.1993C>T (p.Pro665Ser)	ANK2 (P537S +15 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1315724	NM_001148.6(ANK2):c.1994C>A (p.Pro665Gln)	ANK2 (P537Q +15 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 190595	NM_001148.6(ANK2):c.2074A>G (p.Thr692Ala)	ANK2 (T671A +15 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 136385	NM_001148.6(ANK2):c.2080-18G>T	ANK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 191399	NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu)	ANK2 (Q683E +15 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 377473	NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)	ANK2 (Q729R +15 more)	Single nucleotide variant (missense variant)	ANK2-related disorder +4 more	GBenign/Likely benign
Select item 347314	NM_001148.6(ANK2):c.2278-11G>A	ANK2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1343527	NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup)	ANK2	Microsatellite (inframe_insertion)	Long QT syndrome +3 more	GUncertain significance
Select item 936236	NM_001148.6(ANK2):c.2557A>C (p.Thr853Pro)	ANK2 (T758P +16 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 190554	NM_001148.6(ANK2):c.2684G>A (p.Arg895Gln)	ANK2 (R874Q +16 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 377474	NM_001148.6(ANK2):c.2727T>A (p.Thr909=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 1367968	NM_001148.6(ANK2):c.2761G>A (p.Val921Met)	ANK2 (V826M +24 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1357507	NM_001148.6(ANK2):c.2768A>T (p.Asp923Val)	ANK2 (D890V +24 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 190598	NM_001148.6(ANK2):c.2813A>T (p.Lys938Met)	ANK2 (K917M +24 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 406486	NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys)	ANK2 (R925C +24 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GConflicting classifications of pathogenicity
Select item 665234	NM_001148.6(ANK2):c.2869G>A (p.Val957Met)	ANK2 (V936M +24 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 994218	NM_001148.6(ANK2):c.2900+5143G>A	ANK2 (A1004T +8 more)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 238575	NM_001148.6(ANK2):c.2945G>A (p.Arg982Gln)	ANK2 (R973Q +30 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 190560	NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln)	ANK2 (R981Q +30 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 190527	NM_001148.6(ANK2):c.2970A>C (p.Arg990=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 234979	NM_001148.6(ANK2):c.2987G>A (p.Arg996Gln)	ANK2 (R987Q +30 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 190564	NM_001148.6(ANK2):c.3085C>T (p.Arg1029Cys)	ANK2 (R1020C +30 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1063057	NM_001148.6(ANK2):c.3295A>C (p.Ser1099Arg)	ANK2 (S1004R +35 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 347318	NM_001148.6(ANK2):c.3379+12T>G	ANK2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1000240	NM_001148.6(ANK2):c.3434G>A (p.Arg1145Gln)	ANK2 (R1017Q +37 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 190566	NM_001148.6(ANK2):c.3571C>T (p.Arg1191Trp)	ANK2 (R1182W +37 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 190567	NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln)	ANK2 (R1182Q +37 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 190602	NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr)	ANK2 (K1199T +38 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 420577	NM_001148.6(ANK2):c.3914G>A (p.Arg1305Gln)	ANK2 (R1296Q +38 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 457036	NM_001148.6(ANK2):c.4249G>A (p.Val1417Ile)	ANK2 (V1408I +38 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1444516	NM_001148.6(ANK2):c.4259C>T (p.Thr1420Met)	ANK2 (T1345M +38 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 190571	NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)	ANK2 (T1428M +38 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 190605	NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu)	ANK2 (K1448E +38 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 519079	NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys)	ANK2 (Q1456K +37 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
Select item 1006731	NM_001148.6(ANK2):c.4436C>G (p.Thr1479Arg)	ANK2 (T1401R +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 263709	NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)	ANK2 (V1486L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 190572	NM_001148.6(ANK2):c.4835C>T (p.Thr1612Ile)	ANK2 (T1612I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1063586	NM_001148.6(ANK2):c.4930C>A (p.Leu1644Met)	ANK2 (L1566M +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 1064133	NM_001148.6(ANK2):c.5060C>A (p.Thr1687Lys)	ANK2 (T1609K +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 574124	NM_001148.6(ANK2):c.5063A>G (p.Gln1688Arg)	ANK2 (Q1688R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 527006	NM_001148.6(ANK2):c.5153G>T (p.Gly1718Val)	ANK2 (G1718V +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1416396	NM_001148.6(ANK2):c.5249C>T (p.Thr1750Ile)	ANK2, LOC126807136 (T1672I +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1040690	NM_001148.6(ANK2):c.5351G>C (p.Arg1784Pro)	ANK2, LOC126807136 (R1706P +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1047560	NM_001148.6(ANK2):c.5431C>T (p.Pro1811Ser)	ANK2, LOC126807136 (P1811S +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1384168	NM_001148.6(ANK2):c.5507C>G (p.Ser1836Cys)	ANK2, LOC126807136 (S1758C +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1144677	NM_001148.6(ANK2):c.5508C>T (p.Ser1836=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 222498	NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr)	ANK2, LOC126807136 (A1837T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 642528	NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro)	ANK2, LOC126807136 (T1839P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 457044	NM_001148.6(ANK2):c.5599T>G (p.Ser1867Ala)	ANK2, LOC126807136 (S1867A +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 950595	NM_001148.6(ANK2):c.5618G>A (p.Ser1873Asn)	ANK2, LOC126807136 (S1873N +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 238583	NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu)	ANK2, LOC126807136 (S1884L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 35689	NM_001148.6(ANK2):c.5715G>A (p.Ser1905=)	ANK2, LOC126807136	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +5 more	GBenign
Select item 846786	NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)	ANK2, LOC126807136 (R1913C +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 864173	NM_001148.6(ANK2):c.5815G>C (p.Val1939Leu)	ANK2, LOC126807136 (V1939L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 347326	NM_001148.6(ANK2):c.5860G>T (p.Ala1954Ser)	ANK2, LOC126807136 (A1954S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 427963	NM_001148.6(ANK2):c.6078A>T (p.Lys2026Asn)	ANK2, LOC126807136 (K2026N +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 347328	NM_001148.6(ANK2):c.6100G>A (p.Gly2034Arg)	ANK2, LOC126807136 (G2034R +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 526975	NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg)	ANK2, LOC126807136 (Q2048R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 948688	NM_001148.6(ANK2):c.6170C>T (p.Pro2057Leu)	ANK2, LOC126807136 (P2057L +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1485011	NM_001148.6(ANK2):c.6442G>T (p.Asp2148Tyr)	ANK2 (D2195Y +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 406464	NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile)	ANK2 (V2169I +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 580135	NM_001148.6(ANK2):c.6526ACA[1] (p.Thr2177del)	ANK2 (T2177del +4 more)	Microsatellite (inframe_deletion +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 347329	NM_001148.6(ANK2):c.6547A>G (p.Met2183Val)	ANK2 (M2183V +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 527020	NM_001148.6(ANK2):c.6586G>A (p.Gly2196Ser)	ANK2 (G2196S +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 581355	NM_001148.6(ANK2):c.6632C>T (p.Ala2211Val)	ANK2 (A2211V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 1465353	NM_001148.6(ANK2):c.6820C>T (p.Arg2274Cys)	ANK2, LOC126807137 (R2274C +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1206823	NM_001148.6(ANK2):c.6977A>G (p.Asp2326Gly)	ANK2, LOC126807137 (D1126G +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 288266	NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)	ANK2, LOC126807137	Deletion (inframe_deletion +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1416687	NM_001148.6(ANK2):c.7082A>G (p.His2361Arg)	ANK2, LOC126807137 (H2283R +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 238587	NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)	ANK2, LOC126807137 (V2369F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GConflicting classifications of pathogenicity
Select item 659321	NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly)	ANK2, LOC126807137 (V2369G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 834506	NM_001148.6(ANK2):c.7120G>T (p.Ala2374Ser)	ANK2, LOC126807137 (A2374S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 560632	NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)	ANK2, LOC126807137 (T2379K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GConflicting classifications of pathogenicity
Select item 406472	NM_001148.6(ANK2):c.7142C>A (p.Ala2381Asp)	ANK2, LOC126807137 (A2381D +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 642356	NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)	ANK2, LOC126807137 (P2383L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 457048	NM_001148.6(ANK2):c.7149G>A (p.Pro2383=)	ANK2, LOC126807137	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 518716	NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met)	ANK2, LOC126807137 (K2390M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity

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