"Ambry Genetics"[submitter] AND "ATP11C"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2466312	NM_001353812.2(ATP11C):c.3217C>A (p.Leu1073Ile)	ATP11C (L1076I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540899	NM_001353812.2(ATP11C):c.3191T>G (p.Val1064Gly)	ATP11C (V1064G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535837	NM_001353812.2(ATP11C):c.3153G>C (p.Gln1051His)	ATP11C (Q1054H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131340	NM_001353812.2(ATP11C):c.3136C>T (p.Pro1046Ser)	ATP11C (P1046S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549148	NM_001353812.2(ATP11C):c.3098A>G (p.Tyr1033Cys)	ATP11C (Y1036C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333538	NM_001353812.2(ATP11C):c.3047G>A (p.Arg1016Gln)	ATP11C (R1019Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131338	NM_001353812.2(ATP11C):c.2923T>G (p.Tyr975Asp)	ATP11C (Y975D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204424	NM_001353812.2(ATP11C):c.2872T>C (p.Tyr958His)	ATP11C (Y958H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131336	NM_001353812.2(ATP11C):c.2863C>T (p.Pro955Ser)	ATP11C (P955S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131335	NM_001353812.2(ATP11C):c.2653A>G (p.Ile885Val)	ATP11C (I888V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327795	NM_001353812.2(ATP11C):c.2585A>T (p.His862Leu)	ATP11C (H862L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327813	NM_001353812.2(ATP11C):c.2536G>A (p.Asp846Asn)	ATP11C (D846N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274497	NM_001353812.2(ATP11C):c.2528G>C (p.Arg843Thr)	ATP11C (R843T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607208	NM_001353812.2(ATP11C):c.2234A>G (p.Gln745Arg)	ATP11C (Q745R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609985	NM_001353812.2(ATP11C):c.2209T>G (p.Phe737Val)	ATP11C (F737V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439333	NM_001353812.2(ATP11C):c.2159T>G (p.Ile720Arg)	ATP11C (I720R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3327824	NM_001353812.2(ATP11C):c.2141G>A (p.Arg714Gln)	ATP11C (R714Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367377	NM_001353812.2(ATP11C):c.2000G>A (p.Gly667Asp)	ATP11C (G670D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345416	NM_001353812.2(ATP11C):c.1826A>G (p.Glu609Gly)	ATP11C (E609G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546677	NM_001353812.2(ATP11C):c.1817A>G (p.Asp606Gly)	ATP11C (D606G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540549	NM_001353812.2(ATP11C):c.1817A>T (p.Asp606Val)	ATP11C (D609V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495833	NM_001353812.2(ATP11C):c.1648A>G (p.Ile550Val)	ATP11C (I553V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327803	NM_001353812.2(ATP11C):c.1610C>T (p.Thr537Ile)	ATP11C (T537I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557231	NM_001353812.2(ATP11C):c.1577G>T (p.Arg526Ile)	ATP11C (R526I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688634	NM_001353812.2(ATP11C):c.1574A>G (p.Gln525Arg)	ATP11C (Q525R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2240915	NM_001353812.2(ATP11C):c.1555T>A (p.Tyr519Asn)	ATP11C (Y519N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2403848	NM_001353812.2(ATP11C):c.1531A>G (p.Thr511Ala)	ATP11C (T511A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131334	NM_001353812.2(ATP11C):c.1391G>A (p.Arg464His)	ATP11C (R464H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223855	NM_001353812.2(ATP11C):c.1345A>G (p.Thr449Ala)	ATP11C (T449A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287576	NM_001353812.2(ATP11C):c.1312G>A (p.Val438Ile)	ATP11C (V438I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439330	NM_001353812.2(ATP11C):c.1161A>T (p.Glu387Asp)	ATP11C (E387D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2359667	NM_001353812.2(ATP11C):c.1100A>G (p.Lys367Arg)	ATP11C (K367R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2296199	NM_001353812.2(ATP11C):c.1025C>T (p.Thr342Ile)	ATP11C (T342I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327784	NM_001353812.2(ATP11C):c.941A>T (p.Gln314Leu)	ATP11C (Q314L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507732	NM_001353812.2(ATP11C):c.831A>T (p.Lys277Asn)	ATP11C (K277N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317870	NM_001353812.2(ATP11C):c.811G>T (p.Ala271Ser)	ATP11C (A271S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131342	NM_001353812.2(ATP11C):c.580A>G (p.Ile194Val)	ATP11C (I194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266203	NM_001353812.2(ATP11C):c.559C>A (p.His187Asn)	ATP11C (H187N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2239334	NM_001353812.2(ATP11C):c.457G>A (p.Glu153Lys)	ATP11C (E156K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131341	NM_001353812.2(ATP11C):c.379A>G (p.Ile127Val)	ATP11C (I130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250204	NM_001353812.2(ATP11C):c.301G>A (p.Val101Ile)	ATP11C (V101I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131339	NM_001353812.2(ATP11C):c.299C>A (p.Thr100Asn)	ATP11C (T103N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563284	NM_001353812.2(ATP11C):c.77A>G (p.Asn26Ser)	ATP11C (N26S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 43