ClinVar for Gene (Select 9914) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 288

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	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 condition	GLikely benign
Select item 3057295	NM_014861.4(ATP2C2):c.297C>T (p.Ser99=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	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 condition	GBenign
Select item 3055978	NM_014861.4(ATP2C2):c.1811T>A (p.Leu604Gln)	ATP2C2 (L453Q +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related condition	GBenign
Select item 3053590	NM_014861.4(ATP2C2):c.270C>G (p.Gly90=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	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 condition	GBenign
Select item 3051626	NM_014861.4(ATP2C2):c.1681C>A (p.Pro561Thr)	ATP2C2 (P410T +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related condition	GLikely benign
Select item 3050354	NM_014861.4(ATP2C2):c.669C>T (p.Ala223=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	GLikely benign
Select item 3050343	NM_014861.4(ATP2C2):c.1504-3A>G	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related condition	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 condition	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 condition	GLikely benign
Select item 3047719	NM_014861.4(ATP2C2):c.65A>G (p.Tyr22Cys)	ATP2C2 (Y22C)	Single nucleotide variant (missense variant)	ATP2C2-related condition	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 condition	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 condition	GLikely benign
Select item 3045079	NM_014861.4(ATP2C2):c.2043C>T (p.Ala681=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	GLikely benign
Select item 3044808	NM_014861.4(ATP2C2):c.154C>T (p.Leu52=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	GLikely benign
Select item 3043440	NM_014861.4(ATP2C2):c.1210-10C>T	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related condition	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 condition	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 condition	GLikely benign
Select item 3041145	NM_014861.4(ATP2C2):c.1734G>A (p.Pro578=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	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 condition	GBenign
Select item 3040418	NM_014861.4(ATP2C2):c.1160A>G (p.Asn387Ser)	ATP2C2 (N236S +1 more)	Single nucleotide variant (missense variant)	ATP2C2-related condition	GLikely benign
Select item 3040293	NM_014861.4(ATP2C2):c.1980+6C>T	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related condition	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 condition	GLikely benign
Select item 3038599	NM_014861.4(ATP2C2):c.1632G>A (p.Glu544=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	GLikely benign
Select item 3037639	NM_014861.4(ATP2C2):c.987-8C>T	ATP2C2	Single nucleotide variant (intron variant)	ATP2C2-related condition	GLikely benign
Select item 3034761	NM_014861.4(ATP2C2):c.1611G>A (p.Arg537=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	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 condition	GLikely benign
Select item 3033252	NM_014861.4(ATP2C2):c.1920C>T (p.Arg640=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition	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 condition	GUncertain significance
Select item 2723351	NM_014861.4(ATP2C2):c.573C>A (p.Val191=)	ATP2C2	Single nucleotide variant (synonymous variant)	ATP2C2-related condition +1 more	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	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)	ATP2C2-related condition +1 more	GBenign/Likely benign
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
Select item 2555804	NM_014861.4(ATP2C2):c.170C>T (p.Ala57Val)	ATP2C2 (A57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549977	NM_014861.4(ATP2C2):c.714C>G (p.Asp238Glu)	ATP2C2 (D238E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544371	NM_014861.4(ATP2C2):c.1382T>G (p.Leu461Trp)	ATP2C2 (L461W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544120	NM_014861.4(ATP2C2):c.1177C>G (p.Gln393Glu)	ATP2C2 (Q393E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542584	NM_014861.4(ATP2C2):c.754G>T (p.Val252Leu)	ATP2C2 (V252L +1 more)	Single nucleotide variant (missense variant)	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 2538946	NM_014861.4(ATP2C2):c.1834A>G (p.Arg612Gly)	ATP2C2 (R612G +1 more)	Single nucleotide variant (missense variant)	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 2533275	NM_014861.4(ATP2C2):c.2044C>G (p.Leu682Val)	ATP2C2 (L531V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529727	NM_014861.4(ATP2C2):c.448A>T (p.Ile150Phe)	ATP2C2 (I150F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526609	NM_014861.4(ATP2C2):c.1628A>G (p.Glu543Gly)	ATP2C2 (E543G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526450	NM_014861.4(ATP2C2):c.2003T>C (p.Ile668Thr)	ATP2C2 (I517T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516092	NM_014861.4(ATP2C2):c.551G>A (p.Arg184Gln)	ATP2C2 (R184Q +1 more)	Single nucleotide variant (missense variant)	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 2495402	NM_014861.4(ATP2C2):c.1728C>A (p.Asp576Glu)	ATP2C2 (D425E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488933	NM_014861.4(ATP2C2):c.2189A>G (p.Lys730Arg)	ATP2C2 (K730R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3