Related gene-specific medical variations for Gene (Select 9914) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329145	NM_014861.4(ATP2C2):c.2387T>C (p.Val796Ala)	ATP2C2, ATP2C2-AS1 (V825A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3329125	NM_014861.4(ATP2C2):c.2433G>A (p.Met811Ile)	ATP2C2, ATP2C2-AS1 (M840I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3329107	NM_014861.4(ATP2C2):c.2246T>G (p.Leu749Arg)	ATP2C2, ATP2C2-AS1 (L598R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3329057	NM_014861.4(ATP2C2):c.2509C>T (p.Arg837Cys)	ATP2C2, ATP2C2-AS1 +1 more (R837C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3329017	NM_014861.4(ATP2C2):c.2747C>T (p.Ala916Val)	ATP2C2, ATP2C2-AS1 (A916V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329007	NM_014861.4(ATP2C2):c.2663C>T (p.Ala888Val)	ATP2C2, ATP2C2-AS1 +1 more (A888V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3328986	NM_014861.4(ATP2C2):c.2489A>C (p.Glu830Ala)	ATP2C2, ATP2C2-AS1 +1 more (E859A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131615	NM_014861.4(ATP2C2):c.2755G>A (p.Val919Ile)	ATP2C2, ATP2C2-AS1 (V768I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131614	NM_014861.4(ATP2C2):c.2575T>A (p.Ser859Thr)	ATP2C2, ATP2C2-AS1 +1 more (S859T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131613	NM_014861.4(ATP2C2):c.2573G>A (p.Arg858His)	ATP2C2, ATP2C2-AS1 +1 more (R858H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131612	NM_014861.4(ATP2C2):c.2525C>T (p.Thr842Met)	ATP2C2, ATP2C2-AS1 +1 more (T842M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131611	NM_014861.4(ATP2C2):c.2516C>T (p.Thr839Met)	ATP2C2, ATP2C2-AS1 +1 more (T688M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131610	NM_014861.4(ATP2C2):c.2498C>A (p.Ala833Glu)	ATP2C2, ATP2C2-AS1 +1 more (A862E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131609	NM_014861.4(ATP2C2):c.2428C>T (p.Leu810Phe)	ATP2C2, ATP2C2-AS1 (L810F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131607	NM_014861.4(ATP2C2):c.2428C>G (p.Leu810Val)	ATP2C2, ATP2C2-AS1 (L839V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131606	NM_014861.4(ATP2C2):c.2418C>G (p.Ile806Met)	ATP2C2, ATP2C2-AS1 (I655M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131605	NM_014861.4(ATP2C2):c.2406C>G (p.Ser802Arg)	ATP2C2, ATP2C2-AS1 (S831R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131604	NM_014861.4(ATP2C2):c.2302A>C (p.Asn768His)	ATP2C2, ATP2C2-AS1 (N617H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3131603	NM_014861.4(ATP2C2):c.2259C>G (p.Phe753Leu)	ATP2C2, ATP2C2-AS1 (F602L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3057983	NM_014861.4(ATP2C2):c.2481+7G>A	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 3049310	NM_014861.4(ATP2C2):c.2217-5C>T	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 3048454	NM_014861.4(ATP2C2):c.2601C>T (p.Ile867=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 3046183	NM_014861.4(ATP2C2):c.2333+112T>A	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 3045988	NM_014861.4(ATP2C2):c.2333+148A>G	ATP2C2, ATP2C2-AS1 (T788A)	Single nucleotide variant (non-coding transcript variant +2 more)	ATP2C2-related disorder	GLikely benign
Select item 3041238	NM_014861.4(ATP2C2):c.2526G>A (p.Thr842=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 3040688	NM_014861.4(ATP2C2):c.2324C>A (p.Pro775Gln)	ATP2C2, ATP2C2-AS1 (P624Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GBenign
Select item 3040059	NM_014861.4(ATP2C2):c.2333+208T>C	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	ATP2C2-related disorder	GLikely benign
Select item 3034704	NM_014861.4(ATP2C2):c.2250C>T (p.Ser750=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GLikely benign
Select item 3029063	NM_014861.4(ATP2C2):c.2580+1G>A	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	ATP2C2-related disorder	GUncertain significance
Select item 2646924	NM_014861.4(ATP2C2):c.2637C>T (p.Val879=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2646923	NM_014861.4(ATP2C2):c.2338G>T (p.Gly780Trp)	ATP2C2, ATP2C2-AS1 (G629W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2624252	NM_014861.4(ATP2C2):c.2225C>G (p.Ser742Cys)	ATP2C2, ATP2C2-AS1 (S742C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2622010	NM_014861.4(ATP2C2):c.2437G>C (p.Ala813Pro)	ATP2C2, ATP2C2-AS1 (A842P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2610535	NM_014861.4(ATP2C2):c.2361C>G (p.Asp787Glu)	ATP2C2, ATP2C2-AS1 (D636E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2560059	NM_014861.4(ATP2C2):c.2622G>A (p.Met874Ile)	ATP2C2, ATP2C2-AS1 +1 more (M723I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2539952	NM_014861.4(ATP2C2):c.2668A>T (p.Ile890Phe)	ATP2C2, ATP2C2-AS1 +1 more (I739F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2534875	NM_014861.4(ATP2C2):c.2227G>A (p.Ala743Thr)	ATP2C2, ATP2C2-AS1 (A592T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2512169	NM_014861.4(ATP2C2):c.2576C>G (p.Ser859Cys)	ATP2C2, ATP2C2-AS1 +1 more (S859C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2510011	NM_014861.4(ATP2C2):c.2338G>C (p.Gly780Arg)	ATP2C2, ATP2C2-AS1 (G629R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2509796	NM_014861.4(ATP2C2):c.2744T>C (p.Leu915Ser)	ATP2C2, ATP2C2-AS1 (L915S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486021	NM_014861.4(ATP2C2):c.2823G>A (p.Met941Ile)	ATP2C2, ATP2C2-AS1 (M790I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484300	NM_014861.4(ATP2C2):c.2806C>T (p.Pro936Ser)	ATP2C2, ATP2C2-AS1 (P936S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478669	NM_014861.4(ATP2C2):c.2350G>A (p.Val784Ile)	ATP2C2, ATP2C2-AS1 (V784I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2465858	NM_014861.4(ATP2C2):c.2478G>T (p.Lys826Asn)	ATP2C2, ATP2C2-AS1 (K675N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2460269	NM_014861.4(ATP2C2):c.2462T>G (p.Leu821Arg)	ATP2C2, ATP2C2-AS1 (L670R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2458911	NM_014861.4(ATP2C2):c.2756T>C (p.Val919Ala)	ATP2C2, ATP2C2-AS1 (V768A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410848	NM_014861.4(ATP2C2):c.2626C>T (p.Leu876Phe)	ATP2C2, ATP2C2-AS1 +1 more (L905F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2409229	NM_014861.4(ATP2C2):c.2390G>A (p.Arg797Gln)	ATP2C2, ATP2C2-AS1 (R646Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2403039	NM_014861.4(ATP2C2):c.2354A>T (p.Asp785Val)	ATP2C2, ATP2C2-AS1 (D785V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2395279	NM_014861.4(ATP2C2):c.2702C>G (p.Thr901Arg)	ATP2C2, ATP2C2-AS1 +1 more (T750R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2395277	NM_014861.4(ATP2C2):c.2619C>G (p.His873Gln)	ATP2C2, ATP2C2-AS1 +1 more (H873Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2376163	NM_014861.4(ATP2C2):c.2374C>T (p.Pro792Ser)	ATP2C2, ATP2C2-AS1 (P821S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2369141	NM_014861.4(ATP2C2):c.2539G>C (p.Val847Leu)	ATP2C2, ATP2C2-AS1 +1 more (V847L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364984	NM_014861.4(ATP2C2):c.2260A>G (p.Asn754Asp)	ATP2C2, ATP2C2-AS1 (N603D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332696	NM_014861.4(ATP2C2):c.2552T>C (p.Leu851Pro)	ATP2C2, ATP2C2-AS1 +1 more (L851P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327720	NM_014861.4(ATP2C2):c.2446A>G (p.Ile816Val)	ATP2C2, ATP2C2-AS1 (I665V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2293548	NM_014861.4(ATP2C2):c.2650C>G (p.Leu884Val)	ATP2C2, ATP2C2-AS1 +1 more (L733V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2246616	NM_014861.4(ATP2C2):c.2254G>T (p.Val752Leu)	ATP2C2, ATP2C2-AS1 (V752L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240403	NM_014861.4(ATP2C2):c.2681C>T (p.Pro894Leu)	ATP2C2, ATP2C2-AS1 +1 more (P743L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2235097	NM_014861.4(ATP2C2):c.2219G>C (p.Ser740Thr)	ATP2C2, ATP2C2-AS1 (S589T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2225425	NM_014861.4(ATP2C2):c.2639T>G (p.Leu880Arg)	ATP2C2, ATP2C2-AS1 +1 more (L909R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2220895	NM_014861.4(ATP2C2):c.2572C>T (p.Arg858Cys)	ATP2C2, ATP2C2-AS1 +1 more (R707C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2216546	NM_014861.4(ATP2C2):c.2218A>G (p.Ser740Gly)	ATP2C2, ATP2C2-AS1 (S589G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1304241	NM_014861.4(ATP2C2):c.2334-8C>T	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1280485	NM_014861.4(ATP2C2):c.2482-19C>G	LOC126862427, ATP2C2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1087793	NM_014861.4(ATP2C2):c.2810A>C (p.Lys937Thr)	ATP2C2-AS1, ATP2C2 (K786T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1085436	NM_014861.4(ATP2C2):c.2635G>A (p.Val879Ile)	ATP2C2, ATP2C2-AS1 +1 more (V728I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 1013112	NM_014861.4(ATP2C2):c.2630A>C (p.Tyr877Ser)	ATP2C2, ATP2C2-AS1 +1 more (Y726S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 871974	NM_014861.4(ATP2C2):c.2227G>T (p.Ala743Ser)	ATP2C2, ATP2C2-AS1 (A743S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 808179	GRCh37/hg19 16q24.1(chr16:84402222-84459407)x1	ATP2C2	Copy number loss	not provided	GUncertain significance
Select item 791337	NM_014861.4(ATP2C2):c.2319G>T (p.Gly773=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 789227	NM_014861.4(ATP2C2):c.2482-2A>C	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 788458	NM_014861.4(ATP2C2):c.2720T>C (p.Leu907Pro)	ATP2C2, ATP2C2-AS1 +1 more (L907P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 788457	NM_014861.4(ATP2C2):c.2691G>C (p.Arg897Ser)	ATP2C2, ATP2C2-AS1 +1 more (R746S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 788456	NM_014861.4(ATP2C2):c.2481+7G>T	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 782019	NM_014861.4(ATP2C2):c.2389C>T (p.Arg797Trp)	ATP2C2, ATP2C2-AS1 (R646W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 781229	NM_014861.4(ATP2C2):c.2840_*4dup (p.Ter947=)	ATP2C2, ATP2C2-AS1	Duplication (no sequence alteration)	not provided	GBenign
Select item 780188	NM_014861.4(ATP2C2):c.2333+9G>T	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 743472	NM_014861.4(ATP2C2):c.2265G>T (p.Leu755=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 743246	NM_014861.4(ATP2C2):c.2634C>T (p.Ser878=)	LOC126862427, ATP2C2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 740498	NM_014861.4(ATP2C2):c.2245C>T (p.Leu749=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 721767	NM_014861.4(ATP2C2):c.2727G>A (p.Leu909=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721014	NM_014861.4(ATP2C2):c.2226C>T (p.Ser742=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 719266	NM_014861.4(ATP2C2):c.2813G>C (p.Arg938Thr)	ATP2C2-AS1, ATP2C2 (R967T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718293	NM_014861.4(ATP2C2):c.2232G>A (p.Leu744=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 714138	NM_014861.4(ATP2C2):c.2328G>A (p.Ala776=)	ATP2C2, ATP2C2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 712739	NM_014861.4(ATP2C2):c.2616C>T (p.Asn872=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 711182	NM_014861.4(ATP2C2):c.2682G>A (p.Pro894=)	ATP2C2, ATP2C2-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 688766	GRCh37/hg19 16q24.1(chr16:84438980-84464456)x1	ATP2C2	Copy number loss	not provided	GUncertain significance
Select item 688460	GRCh37/hg19 16q24.1(chr16:84418014-84496113)x1	ATP2C2	Copy number loss	not provided	GUncertain significance
Select item 686124	GRCh37/hg19 16q24.1(chr16:84438980-84471905)x1	ATP2C2	Copy number loss	not provided	GUncertain significance
Select item 624506	GRCh37/hg19 16q24.1(chr16:84425589-84459179)x1	ATP2C2	Copy number loss	not provided	GUncertain significance
Select item 493194	NM_014861.4(ATP2C2):c.2438C>T (p.Ala813Val)	ATP2C2, ATP2C2-AS1 (A662V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 443441	GRCh37/hg19 16q24.1(chr16:84428686-84485022)x1	ATP2C2	Copy number loss	See cases	GUncertain significance
Select item 226257	GRCh37/hg19 16q24.1(chr16:84435058-84470476)	ATP2C2	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 226256	GRCh37/hg19 16q24.1(chr16:84429584-84490643)	ATP2C2	Copy number loss	Abnormal esophagus morphology	GBenign

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Items: 96