"Ambry Genetics"[submitter] AND "ANK2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1744680	NM_001148.6(ANK2):c.4A>G (p.Met2Val)	ANK2 (M2V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1729943	NM_001148.6(ANK2):c.32A>T (p.Asp11Val)	ANK2 (D11V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2585802	NM_001148.6(ANK2):c.48C>G (p.Phe16Leu)	ANK2 (F16L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1743947	NM_001148.6(ANK2):c.48C>T (p.Phe16=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 2585811	NM_001148.6(ANK2):c.49A>G (p.Asn17Asp)	ANK2 (N17D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 347301	NM_001148.6(ANK2):c.56G>A (p.Ser19Asn)	ANK2 (S19N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 413970	NM_001148.6(ANK2):c.63G>A (p.Gln21=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 190590	NM_001148.6(ANK2):c.80A>C (p.Lys27Thr)	ANK2 (K27T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 516423	NM_001148.6(ANK2):c.85-5C>T	ANK2 (R23C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1628464	NM_001148.6(ANK2):c.85-4G>A	ANK2 (R23H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1763783	NM_001148.6(ANK2):c.85-3C>T	ANK2 (Q24*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1093837	NM_001148.6(ANK2):c.102C>T (p.Ser34=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1677317	NM_001148.6(ANK2):c.113C>T (p.Ala38Val)	ANK2 (A17V +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3295075	NM_001148.6(ANK2):c.122C>G (p.Ala41Gly)	ANK2 (A35G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 264251	NM_001148.6(ANK2):c.130C>G (p.Leu44Val)	ANK2 (L23V +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 511351	NM_001148.6(ANK2):c.132G>A (p.Leu44=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 2545436	NM_001148.6(ANK2):c.142G>A (p.Val48Met)	ANK2 (V44M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2992722	NM_001148.6(ANK2):c.161G>A (p.Gly54Asp)	ANK2 (G33D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 526960	NM_001148.6(ANK2):c.162C>T (p.Gly54=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 190537	NM_001148.6(ANK2):c.176C>T (p.Thr59Ile)	ANK2 (T38I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1781489	NM_001148.6(ANK2):c.186+5G>T	ANK2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 406484	NM_001148.6(ANK2):c.187-8TC[2]	ANK2	Microsatellite (intron variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3295068	NM_001148.6(ANK2):c.195C>G (p.Leu65=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 347302	NM_001148.6(ANK2):c.198C>T (p.Asn66=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1784731	NM_001148.6(ANK2):c.202C>G (p.Leu68Val)	ANK2 (L62V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2565292	NM_001148.6(ANK2):c.224G>C (p.Gly75Ala)	ANK2 (G69A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1650113	NM_001148.6(ANK2):c.228C>T (p.His76=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1010772	NM_001148.6(ANK2):c.229G>A (p.Val77Met)	ANK2 (V56M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 413957	NM_001148.6(ANK2):c.231G>T (p.Val77=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 413949	NM_001148.6(ANK2):c.231G>A (p.Val77=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1789984	NM_001148.6(ANK2):c.234G>A (p.Gly78=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1457172	NM_001148.6(ANK2):c.249G>A (p.Leu83=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1793781	NM_001148.6(ANK2):c.260G>A (p.Gly87Glu)	ANK2 (G104E +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 136381	NM_001148.6(ANK2):c.261G>A (p.Gly87=)	ANK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1795059	NM_001148.6(ANK2):c.270G>A (p.Val90=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 519244	NM_001148.6(ANK2):c.270G>T (p.Val90=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 1795173	NM_001148.6(ANK2):c.271G>A (p.Asp91Asn)	ANK2 (D108N +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2450634	NM_001148.6(ANK2):c.286-3C>T	ANK2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 136382	NM_001148.6(ANK2):c.297C>T (p.Thr99=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 3220969	NM_001148.6(ANK2):c.312A>T (p.Ala104=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1154362	NM_001148.6(ANK2):c.348T>C (p.Leu116=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1732152	NM_001148.6(ANK2):c.350T>C (p.Val117Ala)	ANK2 (V132A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 457034	NM_001148.6(ANK2):c.365A>G (p.Asn122Ser)	ANK2 (N101S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1733782	NM_001148.6(ANK2):c.366T>C (p.Asn122=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3119428	NM_001148.6(ANK2):c.367A>G (p.Ile123Val)	ANK2 (I102V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1735798	NM_001148.6(ANK2):c.387T>A (p.Asn129Lys)	ANK2 (N108K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1738142	NM_001148.6(ANK2):c.413C>T (p.Ala138Val)	ANK2 (A134V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1960106	NM_001148.6(ANK2):c.438A>G (p.Val146=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1741025	NM_001148.6(ANK2):c.449T>C (p.Leu150Pro)	ANK2 (L146P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1742509	NM_001148.6(ANK2):c.469A>G (p.Ser157Gly)	ANK2 (S136G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1150122	NM_001148.6(ANK2):c.471C>T (p.Ser157=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1743244	NM_001148.6(ANK2):c.480A>C (p.Thr160=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2129482	NM_001148.6(ANK2):c.484-4C>T	ANK2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2565327	NM_001148.6(ANK2):c.513C>A (p.Leu171=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1710684	NM_001148.6(ANK2):c.530A>T (p.Gln177Leu)	ANK2 (Q156L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1746879	NM_001148.6(ANK2):c.532G>T (p.Ala178Ser)	ANK2 (A172S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 930692	NM_001148.6(ANK2):c.533C>T (p.Ala178Val)	ANK2 (A174V +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1986910	NM_001148.6(ANK2):c.534G>A (p.Ala178=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 527011	NM_001148.6(ANK2):c.555T>G (p.Asn185Lys)	ANK2 (N185K +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2450636	NM_001148.6(ANK2):c.575G>A (p.Arg192Lys)	ANK2 (R192K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565296	NM_001148.6(ANK2):c.586C>T (p.Leu196=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 347304	NM_001148.6(ANK2):c.597C>T (p.Ala199=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1750890	NM_001148.6(ANK2):c.598G>A (p.Ala200Thr)	ANK2 (A194T +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1751074	NM_001148.6(ANK2):c.600T>C (p.Ala200=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1143228	NM_001148.6(ANK2):c.609C>T (p.Asp203=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 136383	NM_001148.6(ANK2):c.615C>T (p.Thr205=)	ANK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 705347	NM_001148.6(ANK2):c.618A>G (p.Lys206=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1752424	NM_001148.6(ANK2):c.624C>T (p.Ala208=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 406461	NM_001148.6(ANK2):c.625G>T (p.Ala209Ser)	ANK2 (A188S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 779712	NM_001148.6(ANK2):c.630T>C (p.Leu210=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2542212	NM_001148.6(ANK2):c.641A>T (p.Asn214Ile)	ANK2 (N229I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 264493	NM_001148.6(ANK2):c.645C>T (p.Asp215=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 413981	NM_001148.6(ANK2):c.657C>T (p.Asp219=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 575681	NM_001148.6(ANK2):c.658G>A (p.Val220Ile)	ANK2 (V199I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2565310	NM_001148.6(ANK2):c.661C>A (p.Gln221Lys)	ANK2 (Q215K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1754609	NM_001148.6(ANK2):c.663A>G (p.Gln221=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3220992	NM_001148.6(ANK2):c.666C>G (p.Ser222=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 190519	NM_001148.6(ANK2):c.669+3A>G	ANK2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377469	NM_001148.6(ANK2):c.684G>A (p.Arg228=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1465975	NM_001148.6(ANK2):c.693+6G>A	ANK2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 2227635	NM_001148.6(ANK2):c.694-3T>C	ANK2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2497625	NM_001148.6(ANK2):c.705C>G (p.Thr235=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1758150	NM_001148.6(ANK2):c.729C>T (p.Tyr243=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 377470	NM_001148.6(ANK2):c.741C>T (p.Asn247=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 578685	NM_001148.6(ANK2):c.744G>A (p.Val248=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 3294872	NM_001148.6(ANK2):c.747A>G (p.Ala249=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1488802	NM_001148.6(ANK2):c.764G>A (p.Arg255Gln)	ANK2 (R226Q +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519209	NM_001148.6(ANK2):c.786A>G (p.Thr262=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1406189	NM_001148.6(ANK2):c.792+4T>C	ANK2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1761485	NM_001148.6(ANK2):c.798A>C (p.Gly266=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518493	NM_001148.6(ANK2):c.805C>T (p.Pro269Ser)	ANK2 (P248S +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
Select item 519081	NM_001148.6(ANK2):c.813T>C (p.His271=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 190538	NM_001148.6(ANK2):c.827G>A (p.Arg276Lys)	ANK2 (R255K +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
Select item 3295019	NM_001148.6(ANK2):c.835A>G (p.Thr279Ala)	ANK2 (T267A +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565312	NM_001148.6(ANK2):c.849G>A (p.Lys283=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518820	NM_001148.6(ANK2):c.867C>T (p.Gly289=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 3221020	NM_001148.6(ANK2):c.876C>T (p.Ile292=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3119601	NM_001148.6(ANK2):c.880G>A (p.Ala294Thr)	ANK2 (A273T +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 705534	NM_001148.6(ANK2):c.882C>G (p.Ala294=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign

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