"Ambry Genetics"[submitter] AND "ATL2"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131063	NM_001135673.4(ATL2):c.1642C>T (p.Pro548Ser)	ATL2 (P548S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255201	NM_001135673.4(ATL2):c.1607A>G (p.Gln536Arg)	ATL2 (Q309R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525036	NM_001135673.4(ATL2):c.1509G>T (p.Leu503Phe)	ATL2 (L485F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309635	NM_001135673.4(ATL2):c.1507T>G (p.Leu503Val)	ATL2 (L276V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131062	NM_001135673.4(ATL2):c.1429A>G (p.Thr477Ala)	ATL2 (T250A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321684	NM_001135673.4(ATL2):c.1345G>A (p.Glu449Lys)	ATL2 (E278K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219493	NM_001135673.4(ATL2):c.1330T>C (p.Tyr444His)	ATL2 (Y444H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220049	NM_001135673.4(ATL2):c.1289G>A (p.Arg430His)	ATL2 (R259H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557516	NM_001135673.4(ATL2):c.1277T>C (p.Ile426Thr)	ATL2 (I255T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203996	NM_001135673.4(ATL2):c.1274C>T (p.Ala425Val)	ATL2 (A198V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131060	NM_001135673.4(ATL2):c.1215C>A (p.Asp405Glu)	ATL2 (D387E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332743	NM_001135673.4(ATL2):c.1034C>G (p.Ser345Cys)	ATL2 (S118C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347713	NM_001135673.4(ATL2):c.1000C>T (p.Pro334Ser)	ATL2 (P163S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204889	NM_001135673.4(ATL2):c.922A>G (p.Ser308Gly)	ATL2 (S290G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353875	NM_001135673.4(ATL2):c.913A>G (p.Thr305Ala)	ATL2 (T134A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131066	NM_001135673.4(ATL2):c.690A>C (p.Glu230Asp)	ATL2 (E212D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303159	NM_001135673.4(ATL2):c.652C>G (p.Gln218Glu)	ATL2 (Q213E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321695	NM_001135673.4(ATL2):c.552C>G (p.Ile184Met)	ATL2 (I13M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317217	NM_001135673.4(ATL2):c.496A>G (p.Lys166Glu)	ATL2 (K166E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321704	NM_001135673.4(ATL2):c.461A>G (p.Asn154Ser)	ATL2 (N136S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131064	NM_001135673.4(ATL2):c.354G>A (p.Met118Ile)	ATL2, LOC129388844 (M113I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547622	NM_001135673.4(ATL2):c.313A>G (p.Lys105Glu)	ATL2, LOC129388844 (K87E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2270137	NM_001135673.4(ATL2):c.286G>C (p.Val96Leu)	ATL2, LOC129388844 (V96L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251240	NM_001135673.4(ATL2):c.110C>T (p.Thr37Ile)	ATL2 (T37I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548087	NM_001135673.4(ATL2):c.83C>G (p.Ala28Gly)	ATL2 (A28G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206842	NM_001135673.4(ATL2):c.80G>A (p.Ser27Asn)	ATL2 (S27N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515855	NM_001135673.4(ATL2):c.65G>A (p.Arg22Gln)	ATL2 (R22Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379912	NM_001135673.4(ATL2):c.58C>T (p.Arg20Trp)	ATL2 (R20W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131065	NM_001135673.4(ATL2):c.42C>G (p.His14Gln)	ATL2 (H14Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561996	NM_001135673.4(ATL2):c.37C>G (p.Pro13Ala)	ATL2 (P13A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313151	NM_001135673.4(ATL2):c.31C>G (p.Gln11Glu)	ATL2 (Q11E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 31