"Clinical Genetics, Academic Medical Center"[submitter] AND "ANK2"[gen - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35688	NM_001148.6(ANK2):c.384+19C>T	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia +3 more	GBenign
Select item 668407	NM_001148.6(ANK2):c.1110C>T (p.His370=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 238569	NM_001148.6(ANK2):c.1245A>G (p.Glu415=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
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 238570	NM_001148.6(ANK2):c.1401A>G (p.Ala467=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 264372	NM_001148.6(ANK2):c.1995A>G (p.Pro665=)	ANK2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 522253	NM_001148.6(ANK2):c.2178+18C>T	ANK2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 385120	NM_001148.6(ANK2):c.2265C>T (p.Asn755=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely 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 347314	NM_001148.6(ANK2):c.2278-11G>A	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 263475	NM_001148.6(ANK2):c.2337C>T (p.Val779=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 136386	NM_001148.6(ANK2):c.2377-8C>T	ANK2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
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 263473	NM_001148.6(ANK2):c.3136C>T (p.Leu1046=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
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 238577	NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 347318	NM_001148.6(ANK2):c.3379+12T>G	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 35686	NM_001148.6(ANK2):c.3510A>G (p.Val1170=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign
Select item 238578	NM_001148.6(ANK2):c.3543C>T (p.Ala1181=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 238580	NM_001148.6(ANK2):c.4152T>C (p.Asp1384=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia, ankyrin-B-related +3 more	GBenign/Likely benign
Select item 413950	NM_001148.6(ANK2):c.4287A>G (p.Ser1429=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 180269	NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp)	ANK2 (R1582W +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
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 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 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 191537	NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met)	LOC126807136, ANK2 (T2059M +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 180270	NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)	ANK2, LOC126807136 (R2069H +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 191558	NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser)	ANK2 (G2212S +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +4 more	GBenign
Select item 238585	NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +3 more	GBenign/Likely 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 35690	NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala)	ANK2, LOC126807137 (V2369A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +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 703648	NM_001148.6(ANK2):c.7131C>T (p.Asp2377=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 188143	NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)	ANK2, LOC126807137 (E2378K +4 more)	Single nucleotide variant (intron variant +1 more)	Brugada syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1089694	NM_001148.6(ANK2):c.7320C>T (p.Ser2440=)	ANK2, LOC126807137	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely 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 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 191541	NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)	ANK2 (E3016K +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 704309	NM_001148.6(ANK2):c.9153C>T (p.Asp3051=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 234981	NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)	ANK2 (D3176Y +4 more)	Single nucleotide variant (intron variant +1 more)	not specified +4 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 949253	NM_001148.6(ANK2):c.9823G>A (p.Asp3275Asn)	ANK2 (D3275N +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 190528	NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)	ANK2 (I3285T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +6 more	GBenign/Likely benign
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 220038	NM_001148.6(ANK2):c.9996T>C (p.Ser3332=)	ANK2	Single nucleotide variant (intron variant +1 more)	Long QT syndrome +3 more	GBenign
Select item 701142	NM_001148.6(ANK2):c.10032A>G (p.Pro3344=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +2 more	GBenign/Likely benign
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)	ANK2-related disorder +4 more	GBenign/Likely benign
Select item 67597	NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)	ANK2 (L1527V +43 more)	Single nucleotide variant (missense variant)	not specified +4 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 190532	NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala)	ANK2 (G1728A +43 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 136397	NM_001148.6(ANK2):c.11673T>C (p.His3891=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 136398	NM_001148.6(ANK2):c.11790C>T (p.Ile3930=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GBenign
Select item 136400	NM_001148.4(ANK2):c.*7C>T	ANK2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign

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Items: 56