"Ambry Genetics"[submitter] AND "LOC130003862"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2044162	NM_020987.5(ANK3):c.6821A>G (p.His2274Arg)	ANK3, LOC130003862 (H2274R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2278804	NM_020987.5(ANK3):c.6817G>T (p.Val2273Phe)	ANK3, LOC130003862 (V2273F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265392	NM_020987.5(ANK3):c.6788C>A (p.Ala2263Glu)	ANK3, LOC130003862 (A2263E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119987	NM_020987.5(ANK3):c.6779G>A (p.Gly2260Asp)	ANK3, LOC130003862 (G2260D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2080937	NM_020987.5(ANK3):c.6778G>A (p.Gly2260Ser)	ANK3, LOC130003862 (G2260S)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2546254	NM_020987.5(ANK3):c.6775G>A (p.Gly2259Ser)	ANK3, LOC130003862 (G2259S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3119982	NM_020987.5(ANK3):c.6763C>T (p.His2255Tyr)	ANK3, LOC130003862 (H2255Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar