"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 1284962	NM_001148.6(ANK2):c.8903T>C (p.Val2968Ala)	ANK2 (V1768A +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +1 more	GLikely 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 1297629	NM_001148.6(ANK2):c.10126G>A (p.Gly3376Arg)	ANK2 (G2176R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
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 67597	NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)	ANK2 (L1527V +43 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity