ANK2[gene] and "single gene"[properties] - 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 1709629	NM_001354269.3(ANK2):c.23C>G (p.Ala8Gly)	ANK2 (A8G)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 678731	NM_001127493.3(ANK2):c.-39-203T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2655031	NM_001127493.3(ANK2):c.-39G>C	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1195276	NM_001127493.3(ANK2):c.21+24A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200065	NM_001127493.3(ANK2):c.21+52G>A	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675525	NM_001127493.3(ANK2):c.21+151A>T	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672177	NM_001127493.3(ANK2):c.21+199T>C	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199774	NM_001127493.3(ANK2):c.22-125076G>C	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253934	NM_001127493.3(ANK2):c.22-124813C>T	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292223	NM_001127493.3(ANK2):c.22-124794A>C	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 136380	NM_001148.6(ANK2):c.-39G>T	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 377468	NM_001148.6(ANK2):c.-18C>G	ANK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
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 2091980	NM_001148.6(ANK2):c.6G>A (p.Met2Ile)	ANK2 (M2I)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 432547	NM_001148.6(ANK2):c.13G>T (p.Asp5Tyr)	ANK2 (D5Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429997	NM_001148.6(ANK2):c.29G>A (p.Ser10Asn)	ANK2 (S10N)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
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 1318686	NM_001148.6(ANK2):c.35G>T (p.Ser12Ile)	ANK2 (S12I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1643462	NM_001148.6(ANK2):c.36T>C (p.Ser12=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3238881	NM_001148.6(ANK2):c.37G>T (p.Gly13Ter)	ANK2 (G13*)	Single nucleotide variant (nonsense +1 more)	Meniere disease	GUncertain significance
Select item 2420937	NM_001148.6(ANK2):c.42G>T (p.Glu14Asp)	ANK2 (E14D)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	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)	Cardiovascular phenotype +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)	Long QT syndrome	GLikely benign
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 406485	NM_001148.6(ANK2):c.84G>A (p.Lys28=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1131074	NM_001148.6(ANK2):c.84+7C>T	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 219922	NM_001148.6(ANK2):c.84+8G>A	ANK2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1987144	NM_001148.6(ANK2):c.84+10C>T	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 899988	NM_001148.6(ANK2):c.84+11G>A	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1573780	NM_001148.6(ANK2):c.85-57714A>G	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GBenign
Select item 2636331	NM_001148.6(ANK2):c.85-57022A>C	ANK2 (R35S)	Single nucleotide variant (missense variant +1 more)	ANK2-related disorder +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 1678114	NM_001148.6(ANK2):c.85-56996T>C	ANK2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 3025202	NM_001148.6(ANK2):c.85-28513C>T	ANK2 (A12V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655032	NM_001148.6(ANK2):c.85-28511G>T	ANK2 (D13Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 977361	NM_001148.6(ANK2):c.85-28508A>G	ANK2 (K14E)	Single nucleotide variant (missense variant +1 more)	Autistic behavior	GUncertain significance
Select item 1695104	NM_001148.6(ANK2):c.85-28483T>A	ANK2 (M22K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2142630	NM_001148.6(ANK2):c.85-20G>A	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2786747	NM_001148.6(ANK2):c.85-19T>C	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 656816	NC_000004.12:g.(?_113174406)_(113199119_?)del	ANK2	Deletion	Long QT syndrome	GUncertain significance
Select item 516423	NM_001148.6(ANK2):c.85-5C>T	ANK2 (R23C)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 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)	Long QT syndrome +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 2738868	NM_001148.6(ANK2):c.106C>T (p.Leu36Phe)	ANK2 (L36F +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2790042	NM_001148.6(ANK2):c.108C>T (p.Leu36=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1186234	NM_001148.6(ANK2):c.109C>T (p.Arg37Cys)	ANK2 (R16C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 659206	NM_001148.6(ANK2):c.115G>T (p.Ala39Ser)	ANK2 (A35S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2121821	NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC	ANK2	Indel (splice donor variant)	Long QT syndrome	GUncertain significance
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 1345717	NM_001148.6(ANK2):c.127A>G (p.Asn43Asp)	ANK2 (N43D +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	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 +3 more	GBenign/Likely benign
Select item 511351	NM_001148.6(ANK2):c.132G>A (p.Leu44=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 457021	NM_001148.6(ANK2):c.139G>T (p.Val47Phe)	ANK2 (V26F +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 863811	NM_001148.6(ANK2):c.140T>C (p.Val47Ala)	ANK2 (V26A +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 1965476	NM_001148.6(ANK2):c.148T>A (p.Tyr50Asn)	ANK2 (Y50N +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1315877	NM_001148.6(ANK2):c.155del (p.Lys52fs)	ANK2 (K31fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2981816	NM_001148.6(ANK2):c.155A>G (p.Lys52Arg)	ANK2 (K31R +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1958652	NM_001148.6(ANK2):c.157G>A (p.Gly53Arg)	ANK2 (G47R +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 930928	NM_001148.6(ANK2):c.157G>T (p.Gly53Trp)	ANK2 (G47W +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 855482	NM_001148.6(ANK2):c.157G>C (p.Gly53Arg)	ANK2 (G32R +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	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 2992722	NM_001148.6(ANK2):c.161G>A (p.Gly54Asp)	ANK2 (G33D +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 526960	NM_001148.6(ANK2):c.162C>T (p.Gly54=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1352824	NM_001148.6(ANK2):c.172A>G (p.Asn58Asp)	ANK2 (N37D +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 2912383	NM_001148.6(ANK2):c.186+3A>G	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GBenign
Select item 1781489	NM_001148.6(ANK2):c.186+5G>T	ANK2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1576276	NM_001148.6(ANK2):c.186+8C>T	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2044992	NM_001148.6(ANK2):c.186+16C>G	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 383151	NM_001148.6(ANK2):c.186+18A>G	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 669890	NM_001148.6(ANK2):c.186+343A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248503	NM_001148.6(ANK2):c.187-244A>G	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222583	NM_001148.6(ANK2):c.187-52C>T	ANK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235290	NM_001148.6(ANK2):c.187-46dup	ANK2	Duplication (intron variant)	not provided	GBenign
Select item 2740060	NM_001148.6(ANK2):c.187-15T>C	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 936806	NM_001148.6(ANK2):c.187-10C>A	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
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 725077	NM_001148.6(ANK2):c.187-7C>T	ANK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392154	NM_001148.6(ANK2):c.187-6T>C	ANK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 899989	NM_001148.6(ANK2):c.187-5C>T	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 2867067	NM_001148.6(ANK2):c.198C>A (p.Asn66Lys)	ANK2 (N45K +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 347302	NM_001148.6(ANK2):c.198C>T (p.Asn66=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +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)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 413957	NM_001148.6(ANK2):c.231G>T (p.Val77=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 413949	NM_001148.6(ANK2):c.231G>A (p.Val77=)	ANK2	Single nucleotide variant (synonymous variant)	not specified +5 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)	Long QT syndrome	GLikely benign
Select item 1430705	NM_001148.6(ANK2):c.250C>A (p.Leu84Met)	ANK2 (L80M +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1363388	NM_001148.6(ANK2):c.254G>A (p.Gly85Glu)	ANK2 (G100E +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 190591	NM_001148.6(ANK2):c.257G>T (p.Arg86Ile)	ANK2 (R65I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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