ClinVar for Gene (Select 23155) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282546	NM_013296.5(GPSM2):c.1864A>G (p.Lys622Glu)	CLCC1, GPSM2 (K622E)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3145387	NM_001377458.1(CLCC1):c.436T>G (p.Trp146Gly)	CLCC1 (W49G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3145386	NM_001377458.1(CLCC1):c.259G>A (p.Glu87Lys)	CLCC1 (E87K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3145385	NM_001377458.1(CLCC1):c.234T>G (p.Ile78Met)	CLCC1 (I78M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3145383	NM_001377458.1(CLCC1):c.208A>G (p.Lys70Glu)	CLCC1 (K70E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3145382	NM_001377458.1(CLCC1):c.176C>T (p.Ser59Leu)	CLCC1 (S59L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3145381	NM_001377458.1(CLCC1):c.1358G>A (p.Arg453Gln)	CLCC1 (R453Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063332	GRCh37/hg19 1p13.3(chr1:109402942-109807574)x3	CELSR2, CFAP276 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3054619	NM_013296.5(GPSM2):c.1821C>T (p.Ser607=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	GPSM2-related disorder	GLikely benign
Select item 3029986	NM_013296.5(GPSM2):c.1983G>C (p.Gly661=)	CLCC1, GPSM2	Single nucleotide variant (3 prime UTR variant +2 more)	GPSM2-related disorder	GLikely benign
Select item 3001373	NM_001377458.1(CLCC1):c.1620A>T (p.Pro540=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990581	NM_001377458.1(CLCC1):c.1074T>C (p.His358=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987507	NM_001377458.1(CLCC1):c.924A>C (p.Val308=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979643	NM_001377458.1(CLCC1):c.882C>T (p.Val294=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2958896	NM_001377458.1(CLCC1):c.797-6A>G	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850319	NM_001377458.1(CLCC1):c.339+5G>C	CLCC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2810592	NM_001377458.1(CLCC1):c.1215C>T (p.Gly405=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787507	NM_001377458.1(CLCC1):c.1384-19G>A	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786187	NM_001377458.1(CLCC1):c.894+18T>C	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782212	NM_001377458.1(CLCC1):c.1384-8_1384-4dup	CLCC1	Duplication (intron variant)	not provided	GLikely benign
Select item 2764641	NM_001377458.1(CLCC1):c.882C>A (p.Val294=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2714294	NM_001377458.1(CLCC1):c.1563C>T (p.Ala521=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2699405	NM_001377458.1(CLCC1):c.528T>C (p.Asp176=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2685815	GRCh37/hg19 1p13.3(chr1:109494147-109818306)x3	CLCC1, ELAPOR1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2542676	NM_013296.5(GPSM2):c.2006A>C (p.Asn669Thr)	CLCC1, GPSM2 (N669T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2491269	NM_001377458.1(CLCC1):c.568C>A (p.Leu190Ile)	CLCC1 (L140I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487212	NM_001377458.1(CLCC1):c.644G>A (p.Arg215His)	CLCC1 (R165H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478725	NM_001377458.1(CLCC1):c.221T>C (p.Leu74Ser)	CLCC1 (L74S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2475505	NM_001377458.1(CLCC1):c.1406C>T (p.Thr469Ile)	CLCC1 (T348I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2432254	NM_013296.5(GPSM2):c.1941_1942del (p.Arg647fs)	CLCC1, GPSM2 (R647fs)	Microsatellite (3 prime UTR variant +2 more)	Chudley-McCullough syndrome	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423588	NC_000001.10:g.(?_109428145)_(109817590_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 2423587	NC_000001.10:g.(?_108679275)_(109493059_?)del	AKNAD1, CLCC1 +9 more	Deletion	not provided	GUncertain significance
Select item 2417830	NM_001377458.1(CLCC1):c.1607G>T (p.Gly536Val)	CLCC1 (G351V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413241	NM_001377458.1(CLCC1):c.1142G>A (p.Arg381Gln)	CLCC1 (R196Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2339326	NM_001377458.1(CLCC1):c.622C>T (p.Arg208Cys)	CLCC1 (R158C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319071	NM_001377458.1(CLCC1):c.926C>G (p.Thr309Arg)	CLCC1 (T275R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268062	NM_001377458.1(CLCC1):c.1348G>A (p.Ala450Thr)	CLCC1 (A265T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262835	NM_001377458.1(CLCC1):c.1531G>A (p.Ala511Thr)	CLCC1 (A511T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228072	NM_001377458.1(CLCC1):c.793T>C (p.Trp265Arg)	CLCC1 (W144R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2224474	NM_001377458.1(CLCC1):c.1019T>C (p.Ile340Thr)	CLCC1 (I155T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2174070	NM_001377458.1(CLCC1):c.228T>C (p.Tyr76=)	CLCC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2154804	NM_001377458.1(CLCC1):c.827A>G (p.Asp276Gly)	CLCC1 (D155G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2129447	NM_001377458.1(CLCC1):c.232-7G>A	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126324	NM_001377458.1(CLCC1):c.534T>C (p.Phe178=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2119066	NM_001377458.1(CLCC1):c.12T>C (p.Ser4=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2111216	NM_001377458.1(CLCC1):c.1102A>G (p.Ser368Gly)	CLCC1 (S334G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108324	NM_001377458.1(CLCC1):c.1042-3_1042-2del	CLCC1	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2104665	NM_001377458.1(CLCC1):c.463C>T (p.Leu155=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2100044	NM_001377458.1(CLCC1):c.1313G>T (p.Ser438Ile)	CLCC1 (S253I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2099503	NM_001377458.1(CLCC1):c.439A>G (p.Lys147Glu)	CLCC1 (K147E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2096009	NM_001377458.1(CLCC1):c.797-13T>C	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089620	NM_001377458.1(CLCC1):c.723G>T (p.Gln241His)	CLCC1 (Q191H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2088681	NM_001377458.1(CLCC1):c.1267T>C (p.Leu423=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082647	NM_001377458.1(CLCC1):c.456T>C (p.Asp152=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2076732	NM_001377458.1(CLCC1):c.1215C>G (p.Gly405=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2074732	NM_001377458.1(CLCC1):c.155A>G (p.Lys52Arg)	CLCC1 (K52R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2074727	NM_001377458.1(CLCC1):c.158del (p.Asp53fs)	CLCC1 (D53fs)	Deletion (frameshift variant +3 more)	not provided	GUncertain significance
Select item 2072415	NM_001377458.1(CLCC1):c.1536G>A (p.Ala512=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071121	NM_001377458.1(CLCC1):c.1030T>C (p.Leu344=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2067851	NM_001377458.1(CLCC1):c.1651G>A (p.Gly551Ser)	CLCC1 (G501S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066059	NM_001377458.1(CLCC1):c.1397T>C (p.Val466Ala)	CLCC1 (V466A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055914	NM_001377458.1(CLCC1):c.1384-3T>C	CLCC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2052582	NM_001377458.1(CLCC1):c.266_267del (p.Asp88_Tyr89insTer)	CLCC1	Deletion (nonsense +2 more)	not provided	GUncertain significance
Select item 2052290	NM_001377458.1(CLCC1):c.1214del (p.Gly405fs)	CLCC1 (G284fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2049118	NM_001377458.1(CLCC1):c.426T>G (p.Asn142Lys)	CLCC1 (N108K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2048241	NM_001377458.1(CLCC1):c.743A>G (p.Glu248Gly)	CLCC1 (E127G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2040194	NM_001377458.1(CLCC1):c.1280A>C (p.Asp427Ala)	CLCC1 (D306A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038493	NM_001377458.1(CLCC1):c.1384-17A>G	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003879	NM_001377458.1(CLCC1):c.400_401del (p.Leu134fs)	CLCC1 (L100fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1997469	NM_001377458.1(CLCC1):c.218C>G (p.Ser73Cys)	CLCC1 (S73C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1991101	NM_001377458.1(CLCC1):c.912CAC[1] (p.Thr306del)	CLCC1 (T256del +5 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1976890	NM_001377458.1(CLCC1):c.715C>T (p.Gln239Ter)	CLCC1 (Q142* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1974227	NM_001377458.1(CLCC1):c.1316C>G (p.Pro439Arg)	CLCC1 (P254R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965457	NM_001377458.1(CLCC1):c.306T>C (p.Asn102=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1960007	NM_001377458.1(CLCC1):c.361A>G (p.Met121Val)	CLCC1 (M121V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1952948	NM_001377458.1(CLCC1):c.797-10C>T	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950695	NM_001377458.1(CLCC1):c.465A>G (p.Leu155=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1948777	NM_001377458.1(CLCC1):c.1245G>A (p.Thr415=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1942549	NM_001377458.1(CLCC1):c.232-7G>T	CLCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930748	NM_013296.5(GPSM2):c.1972_1973dup (p.Asp659fs)	GPSM2, CLCC1 (D659fs)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1930468	NM_001377458.1(CLCC1):c.1518A>G (p.Thr506=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1927674	NM_001377458.1(CLCC1):c.1156G>A (p.Asp386Asn)	CLCC1 (D265N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1922166	NM_001377458.1(CLCC1):c.1541A>C (p.Lys514Thr)	CLCC1 (K329T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919371	NM_001377458.1(CLCC1):c.1134T>C (p.Asp378=)	CLCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1918301	NM_001377458.1(CLCC1):c.792C>T (p.Ile264=)	CLCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1916180	NM_001377458.1(CLCC1):c.479T>C (p.Ile160Thr)	CLCC1 (I160T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1911667	NM_001377458.1(CLCC1):c.463C>A (p.Leu155Ile)	CLCC1 (L58I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1906202	NM_001377458.1(CLCC1):c.231+12dup	CLCC1	Duplication (intron variant)	not provided	GBenign
Select item 1902958	NM_001377458.1(CLCC1):c.1199A>T (p.Tyr400Phe)	CLCC1 (Y279F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899208	NM_001377458.1(CLCC1):c.1391C>T (p.Ser464Leu)	CLCC1 (S367L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808806	GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3	AKNAD1, CELSR2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1800492	NM_013296.5(GPSM2):c.2041T>C (p.Ser681Pro)	CLCC1, GPSM2 (S681P)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1716771	NM_001377458.1(CLCC1):c.1461T>G (p.Ser487Arg)	CLCC1 (S302R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1714305	NM_001377458.1(CLCC1):c.226T>A (p.Tyr76Asn)	CLCC1 (Y76N)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1713597	NM_001377458.1(CLCC1):c.1618C>T (p.Pro540Ser)	CLCC1 (P355S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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