"Blueprint Genetics"[submitter] AND "ANK2"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222495	NM_001148.6(ANK2):c.343G>A (p.Val115Ile)	ANK2 (V115I +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 222496	NM_001148.6(ANK2):c.478A>T (p.Thr160Ser)	ANK2 (T139S +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 180268	NM_001148.6(ANK2):c.2179-4A>G	ANK2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 180269	NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp)	ANK2 (R1582W +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	GBenign/Likely benign
Select item 222498	NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr)	ANK2, LOC126807136 (A1837T +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 222499	NM_001148.6(ANK2):c.5609C>T (p.Ser1870Leu)	ANK2, LOC126807136 (S1870L +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 180270	NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)	LOC126807136, ANK2 (R2069H +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GConflicting classifications of pathogenicity
Select item 222500	NM_001148.6(ANK2):c.6461G>A (p.Arg2154His)	ANK2 (R2154H +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GUncertain significance
Select item 180271	NM_001148.6(ANK2):c.6584G>A (p.Ser2195Asn)	ANK2 (S2195N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 222501	NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln)	ANK2, LOC126807137 (R2416Q +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GUncertain significance
Select item 180272	NM_001148.6(ANK2):c.7397G>A (p.Arg2466His)	ANK2, LOC126807137 (R2466H +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +4 more	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 222503	NM_001148.6(ANK2):c.7577C>T (p.Ser2526Leu)	ANK2, LOC126807137 (S2526L +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 180273	NM_001148.6(ANK2):c.9173G>A (p.Arg3058His)	ANK2 (R3058H +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 222504	NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu)	ANK2 (I3285L +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 222505	NM_001148.6(ANK2):c.9871C>T (p.Pro3291Ser)	ANK2 (P3291S +4 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 67595	NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)	ANK2 (E1476K +43 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 222497	NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)	ANK2 (H1533Q +43 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 180274	NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)	ANK2 (G1639del +43 more)	Deletion (inframe_deletion)	Brugada syndrome	GLikely benign
Select item 18057	NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)	ANK2 (T1626N +43 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 190586	NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg)	ANK2 (G1777R +51 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GUncertain significance

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Items: 21