ClinVar for Gene (Select 9914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346972	NM_014861.4(ATP2C2):c.668C>A (p.Ala223Asp)	ATP2C2 (A223D +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GUncertain significance
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 3329134	NM_014861.4(ATP2C2):c.36A>T (p.Lys12Asn)	ATP2C2 (K12N)	Single nucleotide variant (missense variant)	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 3329118	NM_014861.4(ATP2C2):c.690C>G (p.Asp230Glu)	ATP2C2 (D230E +1 more)	Single nucleotide variant (missense variant)	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 3329096	NM_014861.4(ATP2C2):c.1804G>A (p.Asp602Asn)	ATP2C2 (D602N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329087	NM_014861.4(ATP2C2):c.556C>G (p.Leu186Val)	ATP2C2 (L186V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329077	NM_014861.4(ATP2C2):c.876C>A (p.Asp292Glu)	ATP2C2 (D292E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329066	NM_014861.4(ATP2C2):c.830T>A (p.Met277Lys)	ATP2C2 (M277K +1 more)	Single nucleotide variant (missense variant)	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 3329027	NM_014861.4(ATP2C2):c.1975A>G (p.Ile659Val)	ATP2C2 (I508V +1 more)	Single nucleotide variant (missense variant)	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 3328996	NM_014861.4(ATP2C2):c.1960C>T (p.His654Tyr)	ATP2C2 (H654Y +1 more)	Single nucleotide variant (missense variant)	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 3328975	NM_014861.4(ATP2C2):c.1976T>A (p.Ile659Asn)	ATP2C2 (I508N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3131623	NM_014861.4(ATP2C2):c.888G>C (p.Lys296Asn)	ATP2C2 (K145N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131622	NM_014861.4(ATP2C2):c.850A>G (p.Lys284Glu)	ATP2C2 (K284E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131621	NM_014861.4(ATP2C2):c.761A>G (p.Tyr254Cys)	ATP2C2 (Y103C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131620	NM_014861.4(ATP2C2):c.601C>G (p.Pro201Ala)	ATP2C2 (P50A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131619	NM_014861.4(ATP2C2):c.55G>A (p.Gly19Ser)	ATP2C2 (G19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131618	NM_014861.4(ATP2C2):c.535C>G (p.Gln179Glu)	ATP2C2 (Q28E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131617	NM_014861.4(ATP2C2):c.503C>T (p.Pro168Leu)	ATP2C2 (P168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131616	NM_014861.4(ATP2C2):c.483G>C (p.Glu161Asp)	ATP2C2 (E161D)	Single nucleotide variant (missense 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 3131602	NM_014861.4(ATP2C2):c.1894G>A (p.Val632Met)	ATP2C2 (V481M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131601	NM_014861.4(ATP2C2):c.1893C>A (p.Ser631Arg)	ATP2C2 (S631R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131599	NM_014861.4(ATP2C2):c.1795A>G (p.Ile599Val)	ATP2C2 (I448V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131598	NM_014861.4(ATP2C2):c.1778G>A (p.Gly593Asp)	ATP2C2 (G593D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131597	NM_014861.4(ATP2C2):c.1724T>C (p.Ile575Thr)	ATP2C2 (I575T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131596	NM_014861.4(ATP2C2):c.1622T>C (p.Leu541Pro)	ATP2C2 (L541P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131595	NM_014861.4(ATP2C2):c.1508A>T (p.Gln503Leu)	ATP2C2 (Q503L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131594	NM_014861.4(ATP2C2):c.1498A>G (p.Thr500Ala)	ATP2C2 (T349A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131593	NM_014861.4(ATP2C2):c.1478C>T (p.Ala493Val)	ATP2C2 (A342V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131591	NM_014861.4(ATP2C2):c.1433T>C (p.Ile478Thr)	ATP2C2 (I478T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131590	NM_014861.4(ATP2C2):c.1330A>G (p.Asn444Asp)	ATP2C2 (N293D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131589	NM_014861.4(ATP2C2):c.1073G>A (p.Arg358Gln)	ATP2C2 (R207Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131588	NM_014861.4(ATP2C2):c.1064C>T (p.Ala355Val)	ATP2C2 (A355V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131587	NM_014861.4(ATP2C2):c.1057C>T (p.Arg353Trp)	ATP2C2 (R353W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3059110	NM_014861.4(ATP2C2):c.588C>T (p.Ile196=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GBenign
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 3057295	NM_014861.4(ATP2C2):c.297C>T (p.Ser99=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 3056318	NM_014861.4(ATP2C2):c.1396A>T (p.Met466Leu)	ATP2C2 (M315L +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GBenign
Select item 3055978	NM_014861.4(ATP2C2):c.1811T>A (p.Leu604Gln)	ATP2C2 (L453Q +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GBenign
Select item 3053590	NM_014861.4(ATP2C2):c.270C>G (p.Gly90=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 3052394	NM_014861.4(ATP2C2):c.450C>G (p.Ile150Met)	ATP2C2 (I150M +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GBenign
Select item 3051626	NM_014861.4(ATP2C2):c.1681C>A (p.Pro561Thr)	ATP2C2 (P410T +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GLikely benign
Select item 3050354	NM_014861.4(ATP2C2):c.669C>T (p.Ala223=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 3050343	NM_014861.4(ATP2C2):c.1504-3A>G	ATP2C2	Single nucleotide variant (intron variant)	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 3047719	NM_014861.4(ATP2C2):c.65A>G (p.Tyr22Cys)	ATP2C2 (Y22C)	Single nucleotide variant (missense variant)	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 3045079	NM_014861.4(ATP2C2):c.2043C>T (p.Ala681=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 3044808	NM_014861.4(ATP2C2):c.154C>T (p.Leu52=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 3043440	NM_014861.4(ATP2C2):c.1210-10C>T	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related disorder	GLikely benign
Select item 3042144	NM_014861.4(ATP2C2):c.1422A>C (p.Lys474Asn)	ATP2C2 (K323N +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GBenign
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 3041145	NM_014861.4(ATP2C2):c.1734G>A (p.Pro578=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GBenign
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 3040418	NM_014861.4(ATP2C2):c.1160A>G (p.Asn387Ser)	ATP2C2 (N236S +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related disorder	GLikely benign
Select item 3040293	NM_014861.4(ATP2C2):c.1980+6C>T	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related disorder	GLikely benign
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 3038599	NM_014861.4(ATP2C2):c.1632G>A (p.Glu544=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related disorder	GLikely benign
Select item 3037639	NM_014861.4(ATP2C2):c.987-8C>T	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related disorder	GLikely benign
Select item 3034761	NM_014861.4(ATP2C2):c.1611G>A (p.Arg537=)	ATP2C2	Single nucleotide variant (synonymous variant)	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 3033252	NM_014861.4(ATP2C2):c.1920C>T (p.Arg640=)	ATP2C2	Single nucleotide variant (synonymous variant)	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 2723351	NM_014861.4(ATP2C2):c.573C>A (p.Val191=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2646922	NM_014861.4(ATP2C2):c.2148-3C>G	ATP2C2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2646921	NM_014861.4(ATP2C2):c.1930-3C>T	ATP2C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646920	NM_014861.4(ATP2C2):c.1644G>A (p.Gly548=)	ATP2C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646919	NM_014861.4(ATP2C2):c.1123G>A (p.Val375Ile)	ATP2C2 (V224I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646918	NM_014861.4(ATP2C2):c.378C>A (p.Val126=)	ATP2C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2622708	NM_014861.4(ATP2C2):c.524A>G (p.Glu175Gly)	ATP2C2 (E175G +1 more)	Single nucleotide variant (missense variant)	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 2603757	NM_014861.4(ATP2C2):c.935T>C (p.Ile312Thr)	ATP2C2 (I161T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593263	NM_014861.4(ATP2C2):c.1286A>G (p.Asn429Ser)	ATP2C2 (N278S +1 more)	Single nucleotide variant (missense variant)	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 2558426	NM_014861.4(ATP2C2):c.8A>G (p.Glu3Gly)	ATP2C2 (E3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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