"Ambry Genetics"[submitter] AND "LOC126807137"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1755457	NM_001148.6(ANK2):c.6791_6805dup (p.Glu2268_Thr2269insSerThrLysThrGlu)	ANK2, LOC126807137	Duplication (inframe_insertion +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2565309	NM_001148.6(ANK2):c.6804A>G (p.Glu2268=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1465353	NM_001148.6(ANK2):c.6820C>T (p.Arg2274Cys)	ANK2, LOC126807137 (R2274C +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1755639	NM_001148.6(ANK2):c.6821G>A (p.Arg2274His)	ANK2, LOC126807137 (R2196H +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1755705	NM_001148.6(ANK2):c.6835C>T (p.His2279Tyr)	ANK2, LOC126807137 (H2279Y +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 647308	NM_001148.6(ANK2):c.6842C>T (p.Thr2281Met)	ANK2, LOC126807137 (T2281M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 191539	NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr)	ANK2, LOC126807137 (I2285T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 560700	NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln)	ANK2, LOC126807137 (R2292Q +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 576497	NM_001148.6(ANK2):c.6883A>G (p.Thr2295Ala)	ANK2, LOC126807137 (T2295A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 263766	NM_001148.6(ANK2):c.6906C>T (p.Thr2302=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 238586	NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 518570	NM_001148.6(ANK2):c.6973G>C (p.Asp2325His)	ANK2, LOC126807137 (D2325H +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1206823	NM_001148.6(ANK2):c.6977A>G (p.Asp2326Gly)	ANK2, LOC126807137 (D1126G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2585803	NM_001148.6(ANK2):c.6981C>T (p.Cys2327=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2104625	NM_001148.6(ANK2):c.7002A>G (p.Ala2334=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 1756655	NM_001148.6(ANK2):c.7006G>A (p.Ala2336Thr)	ANK2, LOC126807137 (A2258T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 191559	NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val)	ANK2, LOC126807137 (A2336V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GBenign
Select item 1756700	NM_001148.6(ANK2):c.7019C>A (p.Pro2340His)	ANK2, LOC126807137 (P2262H +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 519252	NM_001148.6(ANK2):c.7029G>A (p.Leu2343=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1412295	NM_001148.6(ANK2):c.7042G>A (p.Ala2348Thr)	ANK2, LOC126807137 (A1148T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 288266	NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)	ANK2, LOC126807137	Deletion (inframe_deletion +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GConflicting classifications of pathogenicity
Select item 1756901	NM_001148.6(ANK2):c.7055G>A (p.Gly2352Asp)	ANK2, LOC126807137 (G2352D +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 413956	NM_001148.6(ANK2):c.7059A>G (p.Gln2353=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 1756967	NM_001148.6(ANK2):c.7064C>A (p.Thr2355Asn)	ANK2, LOC126807137 (T1155N +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1756970	NM_001148.6(ANK2):c.7065C>A (p.Thr2355=)	ANK2, LOC126807137	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1416687	NM_001148.6(ANK2):c.7082A>G (p.His2361Arg)	LOC126807137, ANK2 (H2283R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1757055	NM_001148.6(ANK2):c.7084A>G (p.Lys2362Glu)	ANK2, LOC126807137 (K2284E +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1757196	NM_001148.6(ANK2):c.7105_7106delinsTC (p.Val2369Ser)	ANK2, LOC126807137 (V2408S +4 more)	Indel (missense variant +1 more)	Cardiovascular phenotype	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)	not provided +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 35690	NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala)	ANK2, LOC126807137 (V2369A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 257582	NM_001148.6(ANK2):c.7110A>G (p.Gln2370=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign
Select item 238588	NM_001148.6(ANK2):c.7117A>G (p.Thr2373Ala)	ANK2, LOC126807137 (T2373A +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related condition +4 more	GBenign/Likely benign
Select item 834506	NM_001148.6(ANK2):c.7120G>T (p.Ala2374Ser)	ANK2, LOC126807137 (A2374S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 1757285	NM_001148.6(ANK2):c.7126T>G (p.Ser2376Ala)	ANK2, LOC126807137 (S2376A +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 703648	NM_001148.6(ANK2):c.7131C>T (p.Asp2377=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 1757322	NM_001148.6(ANK2):c.7132G>C (p.Glu2378Gln)	ANK2, LOC126807137 (E2378Q +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 188143	NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)	ANK2, LOC126807137 (E2378K +4 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +5 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)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2450633	NM_001148.6(ANK2):c.7140G>A (p.Lys2380=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 406472	NM_001148.6(ANK2):c.7142C>A (p.Ala2381Asp)	ANK2, LOC126807137 (A2381D +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 844803	NM_001148.6(ANK2):c.7148C>G (p.Pro2383Arg)	ANK2, LOC126807137 (P2383R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 642356	NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)	ANK2, LOC126807137 (P2383L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 457048	NM_001148.6(ANK2):c.7149G>A (p.Pro2383=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 576472	NM_001148.6(ANK2):c.7153C>T (p.Pro2385Ser)	ANK2, LOC126807137 (P2385S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1757445	NM_001148.6(ANK2):c.7161T>C (p.Ala2387=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 519391	NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln)	ANK2, LOC126807137 (K2390Q +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 518716	NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met)	ANK2, LOC126807137 (K2390M +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1757495	NM_001148.6(ANK2):c.7178C>G (p.Thr2393Arg)	ANK2, LOC126807137 (T2315R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1757542	NM_001148.6(ANK2):c.7180G>A (p.Gly2394Arg)	ANK2, LOC126807137 (G2394R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2153489	NM_001148.6(ANK2):c.7182A>G (p.Gly2394=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 457049	NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)	ANK2, LOC126807137 (T2395P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1757603	NM_001148.6(ANK2):c.7195C>T (p.Pro2399Ser)	ANK2, LOC126807137 (P1199S +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2450644	NM_001148.6(ANK2):c.7205T>G (p.Val2402Gly)	ANK2, LOC126807137 (V1202G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 809669	NM_001148.6(ANK2):c.7221A>G (p.Gln2407=)	ANK2, LOC126807137	Single nucleotide variant (intron variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 1757790	NM_001148.6(ANK2):c.7228G>C (p.Glu2410Gln)	ANK2, LOC126807137 (E2410Q +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2450642	NM_001148.6(ANK2):c.7231C>T (p.Leu2411Phe)	ANK2, LOC126807137 (L2333F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 519317	NM_001148.6(ANK2):c.7236A>T (p.Ala2412=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2450620	NM_001148.6(ANK2):c.7244G>C (p.Ser2415Thr)	LOC126807137, ANK2 (S2337T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 432857	NM_001148.6(ANK2):c.7244G>A (p.Ser2415Asn)	ANK2, LOC126807137 (S2415N +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 264281	NM_001148.6(ANK2):c.7245C>T (p.Ser2415=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 1757888	NM_001148.6(ANK2):c.7246C>A (p.Arg2416=)	ANK2, LOC126807137	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GBenign
Select item 429643	NM_001148.6(ANK2):c.7249G>C (p.Asp2417His)	ANK2, LOC126807137 (D2417H +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 413958	NM_001148.6(ANK2):c.7251T>C (p.Asp2417=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 2450631	NM_001148.6(ANK2):c.7253G>A (p.Ser2418Asn)	ANK2, LOC126807137 (S1218N +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 413977	NM_001148.6(ANK2):c.7254C>T (p.Ser2418=)	LOC126807137, ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1188715	NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn)	ANK2, LOC126807137 (S1222N +4 more)	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 516922	NM_001148.6(ANK2):c.7266C>T (p.Ser2422=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 413978	NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr)	LOC126807137, ANK2 (A2423T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 2262322	NM_001148.6(ANK2):c.7279G>A (p.Asp2427Asn)	ANK2, LOC126807137 (D1227N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 835449	NM_001148.6(ANK2):c.7283C>T (p.Ser2428Leu)	ANK2, LOC126807137 (S2428L +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1758088	NM_001148.6(ANK2):c.7289C>T (p.Ala2430Val)	ANK2, LOC126807137 (A2430V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 578448	NM_001148.6(ANK2):c.7307C>T (p.Ser2436Phe)	ANK2, LOC126807137 (S2436F +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 1089694	NM_001148.6(ANK2):c.7320C>T (p.Ser2440=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1758324	NM_001148.6(ANK2):c.7322C>T (p.Pro2441Leu)	ANK2, LOC126807137 (P2363L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 724825	NM_001148.6(ANK2):c.7341T>C (p.Ser2447=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1758430	NM_001148.6(ANK2):c.7347C>G (p.His2449Gln)	LOC126807137, ANK2 (H2371Q +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1758482	NM_001148.6(ANK2):c.7359T>C (p.Asp2453=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1758538	NM_001148.6(ANK2):c.7368G>A (p.Glu2456=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1315600	NM_001148.6(ANK2):c.7379T>C (p.Leu2460Pro)	LOC126807137, ANK2 (L1260P +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 393132	NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)	ANK2, LOC126807137 (R2466C +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 180272	NM_001148.6(ANK2):c.7397G>A (p.Arg2466His)	ANK2, LOC126807137 (R2466H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GLikely benign
Select item 851921	NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)	ANK2, LOC126807137 (S2471N +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1758807	NM_001148.6(ANK2):c.7417C>G (p.Pro2473Ala)	ANK2, LOC126807137 (P1273A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 191410	NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg)	ANK2, LOC126807137 (K2479R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1758980	NM_001148.6(ANK2):c.7450C>G (p.Pro2484Ala)	ANK2, LOC126807137 (P2406A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 222502	NM_001148.6(ANK2):c.7458C>G (p.His2486Gln)	ANK2, LOC126807137 (H2486Q +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1759072	NM_001148.6(ANK2):c.7474G>A (p.Ala2492Thr)	ANK2, LOC126807137 (A2531T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 238589	NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 582654	NM_001148.6(ANK2):c.7499C>T (p.Thr2500Met)	LOC126807137, ANK2 (T2500M +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 695187	NM_001148.6(ANK2):c.7500G>A (p.Thr2500=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1759301	NM_001148.6(ANK2):c.7516C>A (p.Arg2506=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 347330	NM_001148.6(ANK2):c.7525C>T (p.Leu2509=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1759349	NM_001148.6(ANK2):c.7527A>G (p.Leu2509=)	ANK2, LOC126807137	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 457051	NM_001148.6(ANK2):c.7528C>T (p.Leu2510Phe)	ANK2, LOC126807137 (L2510F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1318469	NM_001148.6(ANK2):c.7531C>T (p.Arg2511Ter)	ANK2, LOC126807137 (R1311* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 191411	NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln)	ANK2, LOC126807137 (R2511Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1759402	NM_001148.6(ANK2):c.7535A>T (p.Asp2512Val)	ANK2, LOC126807137 (D2434V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1759459	NM_001148.6(ANK2):c.7546A>T (p.Ser2516Cys)	ANK2, LOC126807137 (S1316C +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 574222	NM_001148.6(ANK2):c.7546A>G (p.Ser2516Gly)	ANK2, LOC126807137 (S2516G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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