C2CD5[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 2524480	NM_001286176.2(C2CD5):c.3145G>A (p.Val1049Ile)	C2CD5 (V1015I +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343618	NM_001286176.2(C2CD5):c.2911A>G (p.Ile971Val)	C2CD5 (I500V +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135920	NM_001286176.2(C2CD5):c.2785A>G (p.Thr929Ala)	C2CD5 (T895A +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569285	NM_001286176.2(C2CD5):c.2779A>G (p.Lys927Glu)	C2CD5 (K456E +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292049	NM_001286176.2(C2CD5):c.2773G>A (p.Val925Ile)	C2CD5 (V887I +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135919	NM_001286176.2(C2CD5):c.2738G>A (p.Arg913His)	C2CD5 (R442H +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370555	NM_001286176.2(C2CD5):c.2731C>T (p.Arg911Trp)	C2CD5 (R901W +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521967	NM_001286176.2(C2CD5):c.2714T>C (p.Val905Ala)	C2CD5 (V619A +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373540	NM_001286176.2(C2CD5):c.2713G>C (p.Val905Leu)	C2CD5 (V905L +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489946	NM_001286176.2(C2CD5):c.2512C>G (p.His838Asp)	C2CD5 (H809D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270295	NM_001286176.2(C2CD5):c.2450C>T (p.Ser817Leu)	C2CD5 (S397L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135917	NM_001286176.2(C2CD5):c.2438T>G (p.Leu813Trp)	C2CD5 (L578W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569021	NM_001286176.2(C2CD5):c.2396A>C (p.Asn799Thr)	C2CD5 (N812T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394104	NM_001286176.2(C2CD5):c.2327C>A (p.Thr776Lys)	C2CD5 (T840K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135916	NM_001286176.2(C2CD5):c.2231A>G (p.Asn744Ser)	C2CD5 (N509S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276871	NM_001286176.2(C2CD5):c.2225C>G (p.Ala742Gly)	C2CD5 (A713G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303184	NM_001286176.2(C2CD5):c.2140G>A (p.Gly714Ser)	C2CD5 (G294S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387842	NM_001286176.2(C2CD5):c.1952G>A (p.Arg651His)	C2CD5 (R416H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359964	NM_001286176.2(C2CD5):c.1925G>T (p.Gly642Val)	C2CD5 (G407V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477667	NM_001286176.2(C2CD5):c.1910C>T (p.Ser637Phe)	C2CD5 (S217F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225571	NM_001286176.2(C2CD5):c.1895A>G (p.Asn632Ser)	C2CD5 (N397S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613139	NM_001286176.2(C2CD5):c.1788G>C (p.Gln596His)	C2CD5 (Q660H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232851	NM_001286176.2(C2CD5):c.1759G>A (p.Ala587Thr)	C2CD5 (A167T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612354	NM_001286176.2(C2CD5):c.1559G>A (p.Arg520His)	C2CD5 (R285H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135915	NM_001286176.2(C2CD5):c.1507A>G (p.Thr503Ala)	C2CD5 (T503A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603883	NM_001286176.2(C2CD5):c.1400T>C (p.Ile467Thr)	C2CD5 (I458T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135914	NM_001286176.2(C2CD5):c.1382G>A (p.Arg461His)	C2CD5 (R432H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339795	NM_001286176.2(C2CD5):c.1298C>T (p.Ala433Val)	C2CD5 (A198V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354863	NM_001286176.2(C2CD5):c.1112G>A (p.Arg371His)	C2CD5 (R136H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307845	NM_001286176.2(C2CD5):c.1106G>T (p.Ser369Ile)	C2CD5 (S360I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2344518	NM_001286176.2(C2CD5):c.1090G>A (p.Val364Ile)	C2CD5 (V355I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135912	NM_001286176.2(C2CD5):c.1063G>A (p.Ala355Thr)	C2CD5 (A120T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313528	NM_001286176.2(C2CD5):c.989C>T (p.Pro330Leu)	C2CD5 (P330L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590189	NM_001286176.2(C2CD5):c.983G>T (p.Gly328Val)	C2CD5 (G328V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590188	NM_001286176.2(C2CD5):c.982G>T (p.Gly328Trp)	C2CD5 (G328W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327896	NM_001286176.2(C2CD5):c.785C>T (p.Ser262Phe)	C2CD5 (S233F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559297	NM_001286176.2(C2CD5):c.784T>A (p.Ser262Thr)	C2CD5 (S233T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401762	NM_001286176.2(C2CD5):c.754G>A (p.Ala252Thr)	C2CD5 (A223T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553886	NM_001286176.2(C2CD5):c.724G>A (p.Ala242Thr)	C2CD5 (A213T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549926	NM_001286176.2(C2CD5):c.583C>G (p.Leu195Val)	C2CD5 (L166V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370030	NM_001286176.2(C2CD5):c.407G>A (p.Arg136Gln)	C2CD5 (R107Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471065	NM_001286176.2(C2CD5):c.307A>G (p.Thr103Ala)	C2CD5 (T103A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385118	NM_001286176.2(C2CD5):c.293A>G (p.Tyr98Cys)	C2CD5 (Y98C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135913	NM_001286176.2(C2CD5):c.123T>A (p.Asp41Glu)	C2CD5 (D41E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3135922	NM_001286176.2(C2CD5):c.55G>C (p.Asp19His)	C2CD5 (D19H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	TAS2R43, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 979339	GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1	GYS2, KCNJ8 +11 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685736	GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1	ABCC9, C2CD5 +16 more	Copy number loss	not provided	GUncertain significance
Select item 666436	GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1	LINC02909, ETNK1 +4 more	Copy number loss	Lamb-Shaffer syndrome	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 81