"PreventionGenetics, part of Exact Sciences"[submitter] AND "ANK2"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034928	NM_001354269.3(ANK2):c.22G>A (p.Ala8Thr)	ANK2 (A8T)	Single nucleotide variant (missense variant)	ANK2-related disorder	GLikely benign
Select item 2636331	NM_001148.6(ANK2):c.85-57022A>C	ANK2 (R35S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2629300	NM_001148.6(ANK2):c.85-57017G>A	ANK2 (R37H)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder	GUncertain significance
Select item 516423	NM_001148.6(ANK2):c.85-5C>T	ANK2 (R23C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 426438	NM_001148.6(ANK2):c.121G>A (p.Ala41Thr)	ANK2 (A20T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 264251	NM_001148.6(ANK2):c.130C>G (p.Leu44Val)	ANK2 (L23V +5 more)	Single nucleotide variant (missense variant)	ANK2-related disorder +3 more	GBenign/Likely benign
Select item 413949	NM_001148.6(ANK2):c.231G>A (p.Val77=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 2630631	NM_001148.6(ANK2):c.863G>A (p.Arg288Gln)	ANK2 (R259Q +8 more)	Single nucleotide variant (missense variant)	ANK2-related disorder	GUncertain significance
Select item 264488	NM_001148.6(ANK2):c.997C>T (p.Leu333=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
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 1771140	NM_001148.6(ANK2):c.1375G>A (p.Val459Ile)	ANK2 (V445I +8 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 406466	NM_001148.6(ANK2):c.1638A>G (p.Ala546=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 956026	NM_001148.6(ANK2):c.1711G>T (p.Ala571Ser)	ANK2 (A501S +11 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 413959	NM_001148.6(ANK2):c.1803T>C (p.His601=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 699967	NM_001148.6(ANK2):c.1881+9C>A	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GBenign/Likely benign
Select item 190552	NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe)	ANK2 (S625F +15 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2888030	NM_001148.6(ANK2):c.2080-5T>C	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 264571	NM_001148.6(ANK2):c.2127T>C (p.Asn709=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 3057639	NM_001148.6(ANK2):c.2142C>T (p.Leu714=)	ANK2	Single nucleotide variant (synonymous variant)	ANK2-related disorder	GLikely benign
Select item 3033453	NM_001148.6(ANK2):c.2230G>A (p.Val744Ile)	ANK2 (V616I +15 more)	Single nucleotide variant (missense variant)	ANK2-related disorder	GUncertain significance
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 238571	NM_001148.6(ANK2):c.2277+9C>T	ANK2	Single nucleotide variant (intron variant)	ANK2-related disorder +3 more	GBenign/Likely benign
Select item 2632743	NM_001148.6(ANK2):c.2377-143A>G	ANK2 (M1V)	Single nucleotide variant (missense variant +2 more)	ANK2-related disorder	GUncertain significance
Select item 136386	NM_001148.6(ANK2):c.2377-8C>T	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 519301	NM_001148.6(ANK2):c.2384A>C (p.Asn795Thr)	ANK2 (N774T +16 more)	Single nucleotide variant (missense variant)	ANK2-related disorder +3 more	GUncertain significance
Select item 382813	NM_001148.6(ANK2):c.2583C>T (p.Tyr861=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 2634350	NM_001148.6(ANK2):c.2693+2287C>T	ANK2 (T829I +5 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder	GUncertain significance
Select item 2631072	NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter)	ANK2 (R109* +16 more)	Single nucleotide variant (nonsense +1 more)	ANK2-related disorder	GLikely pathogenic
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 379808	NM_001148.6(ANK2):c.2819C>G (p.Ala940Gly)	ANK2 (A919G +24 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 136388	NM_001148.6(ANK2):c.2900+5135G>A	ANK2	Single nucleotide variant (intron variant)	ANK2-related disorder +1 more	GBenign/Likely benign
Select item 1798526	NM_001148.6(ANK2):c.2991A>G (p.Lys997=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 644240	NM_001148.6(ANK2):c.3125+6G>A	ANK2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 219766	NM_001148.6(ANK2):c.3255G>T (p.Ala1085=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 190565	NM_001148.6(ANK2):c.3526G>T (p.Val1176Leu)	ANK2 (V1167L +37 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 136390	NM_001148.6(ANK2):c.3579C>T (p.Arg1193=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GBenign
Select item 136391	NM_001148.6(ANK2):c.3893+14G>T	ANK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 347320	NM_001148.6(ANK2):c.3927A>G (p.Glu1309=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 1627595	NM_001148.6(ANK2):c.3969C>T (p.Cys1323=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 377478	NM_001148.6(ANK2):c.4372-7C>T	ANK2	Single nucleotide variant (intron variant)	ANK2-related disorder +4 more	GBenign/Likely benign
Select item 2232082	NM_001148.6(ANK2):c.4567_4575del (p.Thr1523_Val1525del)	ANK2	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 191535	NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)	ANK2 (R1582Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 838463	NM_001148.6(ANK2):c.5201A>G (p.Glu1734Gly)	LOC126807136, ANK2 (E1734G +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder +1 more	GUncertain significance
Select item 264575	NM_001148.6(ANK2):c.5313G>A (p.Lys1771=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 191536	NM_001148.6(ANK2):c.5371G>A (p.Val1791Ile)	ANK2, LOC126807136 (V1791I +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1607114	NM_001148.6(ANK2):c.5388C>T (p.Asp1796=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 257580	NM_001148.6(ANK2):c.5469C>T (p.Pro1823=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 406489	NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu)	ANK2, LOC126807136 (V1857E +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder +3 more	GConflicting classifications of pathogenicity
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 1284775	NM_001148.6(ANK2):c.5778G>A (p.Pro1926=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 263628	NM_001148.6(ANK2):c.5985G>A (p.Lys1995=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 3030812	NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs)	ANK2, LOC126807136 (N1969fs +4 more)	Microsatellite (frameshift variant +1 more)	ANK2-related disorder	GLikely pathogenic
Select item 257581	NM_001148.6(ANK2):c.6168C>G (p.Leu2056=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 191537	NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met)	LOC126807136, ANK2 (T2059M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 809667	NM_001148.6(ANK2):c.6318A>G (p.Arg2106=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 3050162	NM_001148.6(ANK2):c.6587G>A (p.Gly2196Asp)	ANK2 (G2118D +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder	GUncertain significance
Select item 238584	NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 263766	NM_001148.6(ANK2):c.6906C>T (p.Thr2302=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
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 disorder +1 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)	Cardiovascular phenotype +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 disorder +4 more	GBenign/Likely benign
Select item 238589	NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	ANK2-related disorder +5 more	GBenign/Likely benign
Select item 347330	NM_001148.6(ANK2):c.7525C>T (p.Leu2509=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GConflicting classifications of pathogenicity
Select item 516956	NM_001148.6(ANK2):c.7581C>T (p.Leu2527=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GLikely benign
Select item 526998	NM_001148.6(ANK2):c.7706_7707inv (p.Ala2569Val)	ANK2, LOC126807137 (A2569V +4 more)	Inversion (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 390451	NM_001148.6(ANK2):c.7707A>G (p.Ala2569=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 457054	NM_001148.6(ANK2):c.7877C>T (p.Pro2626Leu)	ANK2, LOC126807137 (P2626L +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GLikely benign
Select item 513345	NM_001148.6(ANK2):c.8124A>G (p.Val2708=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GLikely benign
Select item 191540	NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu)	ANK2 (S2785L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 413967	NM_001148.6(ANK2):c.8484T>C (p.Asp2828=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 191560	NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser)	ANK2 (P2835S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 3047414	NM_001148.6(ANK2):c.8544C>A (p.Ser2848=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	ANK2-related disorder	GLikely benign
Select item 508873	NM_001148.6(ANK2):c.8601C>T (p.Ala2867=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 263767	NM_001148.6(ANK2):c.8658A>G (p.Leu2886=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 238593	NM_001148.6(ANK2):c.8673C>T (p.Pro2891=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 3031495	NM_001148.6(ANK2):c.8866T>C (p.Ser2956Pro)	ANK2 (S1756P +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder	GUncertain significance
Select item 2628596	NM_001148.6(ANK2):c.9212T>G (p.Val3071Gly)	ANK2 (V1871G +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder	GUncertain significance
Select item 379629	NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly)	ANK2 (S3096G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 191562	NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala)	ANK2 (T3152A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 507768	NM_001148.6(ANK2):c.9474G>T (p.Pro3158=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	ANK2-related disorder +3 more	GBenign/Likely benign
Select item 1767482	NM_001148.6(ANK2):c.9590A>G (p.Asp3197Gly)	ANK2 (D3119G +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 257583	NM_001148.6(ANK2):c.9648A>G (p.Glu3216=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign
Select item 191563	NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)	ANK2 (S3300R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 2585805	NM_001148.6(ANK2):c.10117G>A (p.Ala3373Thr)	ANK2 (A2173T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 449744	NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser)	ANK2 (R3454S +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 238566	NM_001148.6(ANK2):c.10371G>A (p.Thr3457=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	ANK2-related disorder +5 more	GBenign/Likely benign
Select item 220622	NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 347344	NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 406479	NM_001148.6(ANK2):c.10573G>A (p.Glu3525Lys)	ANK2 (E3525K +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 136394	NM_001148.6(ANK2):c.10888+20C>T	ANK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 67599	NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)	ANK2 (V1540D +43 more)	Single nucleotide variant (missense variant)	Conduction disorder of the heart +7 more	GConflicting classifications of pathogenicity
Select item 377479	NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)	ANK2 (R1565L +43 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 67600	NM_001148.6(ANK2):c.11086G>A (p.Glu3696Lys)	ANK2 (E1602K +43 more)	Single nucleotide variant (missense variant)	ANK2-related disorder	GUncertain significance
Select item 190577	NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)	ANK2 (D1613N +43 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 190580	NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)	ANK2 (Q1691R +43 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2633938	NM_001148.6(ANK2):c.11477T>C (p.Ile3826Thr)	ANK2 (I1580T +43 more)	Single nucleotide variant (missense variant)	ANK2-related disorder	GUncertain significance
Select item 190533	NM_001148.6(ANK2):c.11493G>T (p.Glu3831Asp)	ANK2 (E1737D +43 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GLikely benign
Select item 190534	NM_001148.6(ANK2):c.11524C>T (p.Arg3842Trp)	ANK2 (R1748W +43 more)	Single nucleotide variant (missense variant)	ANK2-related disorder +3 more	GLikely benign
Select item 197480	NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)	ANK2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity

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