C1970119[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 406491	NM_001148.6(ANK2):c.614C>A (p.Thr205Asn)	ANK2 (T184N +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 526909	NM_001148.6(ANK2):c.1627G>A (p.Val543Met)	ANK2 (V522M +11 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 190559	NM_001148.6(ANK2):c.2900+5141G>A	ANK2 (R947H +8 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 67606	NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)	ANK2 (G1430C +38 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 519079	NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys)	ANK2 (Q1456K +37 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 642356	NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)	ANK2, LOC126807137 (P2383L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 582654	NM_001148.6(ANK2):c.7499C>T (p.Thr2500Met)	ANK2, LOC126807137 (T2500M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 1211590	NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala)	ANK2 (T1526A +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 347335	NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn)	ANK2 (D2799N +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GUncertain significance
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 18059	NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)	ANK2 (R1788W +50 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related condition +7 more	GConflicting classifications of pathogenicity