ClinVar for Gene (Select 54877) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334156	NM_017742.6(ZCCHC2):c.2318T>G (p.Leu773Arg)	ZCCHC2 (L773R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334155	NM_017742.6(ZCCHC2):c.2136G>T (p.Lys712Asn)	ZCCHC2 (K712N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334154	NM_017742.6(ZCCHC2):c.650C>G (p.Ala217Gly)	ZCCHC2 (A217G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334153	NM_017742.6(ZCCHC2):c.913T>C (p.Cys305Arg)	LOC130062636, ZCCHC2 (C305R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334152	NM_017742.6(ZCCHC2):c.2609A>T (p.Lys870Ile)	ZCCHC2 (K870I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334151	NM_017742.6(ZCCHC2):c.517C>T (p.Leu173Phe)	ZCCHC2 (L173F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334149	NM_017742.6(ZCCHC2):c.1984A>G (p.Ser662Gly)	ZCCHC2 (S662G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334148	NM_017742.6(ZCCHC2):c.66G>T (p.Glu22Asp)	ZCCHC2 (E22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334147	NM_017742.6(ZCCHC2):c.2286G>T (p.Arg762Ser)	ZCCHC2 (R762S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334146	NM_017742.6(ZCCHC2):c.2858C>T (p.Ala953Val)	ZCCHC2 (A953V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334145	NM_017742.6(ZCCHC2):c.1010A>G (p.Gln337Arg)	ZCCHC2 (Q337R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192538	NM_017742.6(ZCCHC2):c.977A>G (p.Glu326Gly)	ZCCHC2 (E326G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192537	NM_017742.6(ZCCHC2):c.966G>A (p.Met322Ile)	ZCCHC2 (M322I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192536	NM_017742.6(ZCCHC2):c.919T>G (p.Phe307Val)	LOC130062636, ZCCHC2 (F307V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192535	NM_017742.6(ZCCHC2):c.822C>A (p.Phe274Leu)	ZCCHC2 (F274L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192534	NM_017742.6(ZCCHC2):c.67C>T (p.Pro23Ser)	ZCCHC2 (P23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192533	NM_017742.6(ZCCHC2):c.554G>C (p.Arg185Pro)	ZCCHC2 (R185P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192532	NM_017742.6(ZCCHC2):c.47C>T (p.Pro16Leu)	ZCCHC2 (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192531	NM_017742.6(ZCCHC2):c.37C>G (p.Pro13Ala)	ZCCHC2 (P13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192530	NM_017742.6(ZCCHC2):c.3512A>T (p.Asn1171Ile)	ZCCHC2 (N814I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192529	NM_017742.6(ZCCHC2):c.31A>G (p.Thr11Ala)	ZCCHC2 (T11A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192528	NM_017742.6(ZCCHC2):c.3114G>T (p.Met1038Ile)	ZCCHC2 (M681I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192526	NM_017742.6(ZCCHC2):c.3031C>T (p.Pro1011Ser)	ZCCHC2 (P654S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192525	NM_017742.6(ZCCHC2):c.2699T>C (p.Val900Ala)	ZCCHC2 (V900A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192523	NM_017742.6(ZCCHC2):c.2594C>T (p.Thr865Met)	ZCCHC2 (T508M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192522	NM_017742.6(ZCCHC2):c.2555A>G (p.His852Arg)	ZCCHC2 (H495R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192519	NM_017742.6(ZCCHC2):c.1652A>G (p.Gln551Arg)	ZCCHC2 (Q551R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192518	NM_017742.6(ZCCHC2):c.1632G>C (p.Lys544Asn)	ZCCHC2 (K187N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192517	NM_017742.6(ZCCHC2):c.157C>T (p.Pro53Ser)	ZCCHC2 (P53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192516	NM_017742.6(ZCCHC2):c.1074G>A (p.Met358Ile)	ZCCHC2 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192515	NM_017742.6(ZCCHC2):c.103T>G (p.Ser35Ala)	ZCCHC2 (S35A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	BCL2, CBLN2 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 3027412	NM_017742.6(ZCCHC2):c.2303C>T (p.Thr768Ile)	ZCCHC2 (T411I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2648781	NM_017742.6(ZCCHC2):c.1839T>C (p.Thr613=)	ZCCHC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648780	NM_017742.6(ZCCHC2):c.1765A>G (p.Lys589Glu)	ZCCHC2 (K232E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2648779	NM_017742.6(ZCCHC2):c.1201-5del	ZCCHC2	Deletion (intron variant)	not provided	GLikely benign
Select item 2648778	NM_017742.6(ZCCHC2):c.363G>C (p.Leu121=)	ZCCHC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648777	NM_017742.6(ZCCHC2):c.224C>G (p.Ala75Gly)	ZCCHC2 (A75G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2624302	NM_017742.6(ZCCHC2):c.797C>G (p.Ala266Gly)	ZCCHC2 (A266G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619754	NM_017742.6(ZCCHC2):c.1286G>A (p.Arg429Gln)	ZCCHC2 (R429Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617037	NM_017742.6(ZCCHC2):c.3505C>A (p.Pro1169Thr)	ZCCHC2 (P1169T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616513	NM_017742.6(ZCCHC2):c.1520A>G (p.Lys507Arg)	ZCCHC2 (K507R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603226	NM_017742.6(ZCCHC2):c.211G>A (p.Val71Ile)	ZCCHC2 (V71I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601827	NM_017742.6(ZCCHC2):c.991G>A (p.Glu331Lys)	ZCCHC2 (E331K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590369	NM_017742.6(ZCCHC2):c.2227G>A (p.Ala743Thr)	ZCCHC2 (A386T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2588784	NM_017742.6(ZCCHC2):c.2335A>C (p.Thr779Pro)	ZCCHC2 (T422P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559344	NM_017742.6(ZCCHC2):c.2713G>T (p.Ala905Ser)	ZCCHC2 (A548S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553640	NM_017742.6(ZCCHC2):c.1799G>A (p.Gly600Asp)	ZCCHC2 (G243D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519796	NM_017742.6(ZCCHC2):c.170C>T (p.Pro57Leu)	ZCCHC2 (P57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513941	NM_017742.6(ZCCHC2):c.1621G>A (p.Asp541Asn)	ZCCHC2 (D184N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510450	NM_017742.6(ZCCHC2):c.2615C>A (p.Ala872Glu)	ZCCHC2 (A515E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489765	NM_017742.6(ZCCHC2):c.1060A>G (p.Ile354Val)	ZCCHC2 (I354V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488286	NM_017742.6(ZCCHC2):c.260G>T (p.Gly87Val)	ZCCHC2 (G87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482318	NM_017742.6(ZCCHC2):c.49C>T (p.Pro17Ser)	ZCCHC2 (P17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480567	NM_017742.6(ZCCHC2):c.3481C>G (p.Leu1161Val)	ZCCHC2 (L1161V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480414	NM_017742.6(ZCCHC2):c.2471C>G (p.Ser824Cys)	ZCCHC2 (S467C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473272	NM_017742.6(ZCCHC2):c.1807C>G (p.Leu603Val)	ZCCHC2 (L246V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463952	NM_017742.6(ZCCHC2):c.953A>G (p.His318Arg)	ZCCHC2 (H318R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460195	NM_017742.6(ZCCHC2):c.103T>C (p.Ser35Pro)	ZCCHC2 (S35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411480	NM_017742.6(ZCCHC2):c.1871G>T (p.Gly624Val)	ZCCHC2 (G624V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401547	NM_017742.6(ZCCHC2):c.3023G>T (p.Gly1008Val)	ZCCHC2 (G651V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398822	NM_017742.6(ZCCHC2):c.194G>A (p.Arg65Gln)	ZCCHC2 (R65Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394919	NM_017742.6(ZCCHC2):c.2989G>A (p.Ala997Thr)	ZCCHC2 (A640T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390914	NM_017742.6(ZCCHC2):c.191C>T (p.Pro64Leu)	ZCCHC2 (P64L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375536	NM_017742.6(ZCCHC2):c.1102G>A (p.Asp368Asn)	ZCCHC2 (D368N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360277	NM_017742.6(ZCCHC2):c.3169G>A (p.Gly1057Ser)	ZCCHC2 (G1057S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356656	NM_017742.6(ZCCHC2):c.1424C>T (p.Ser475Phe)	ZCCHC2 (S475F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349280	NM_017742.6(ZCCHC2):c.176C>G (p.Pro59Arg)	ZCCHC2 (P59R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2348646	NM_017742.6(ZCCHC2):c.92C>T (p.Ala31Val)	ZCCHC2 (A31V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347245	NM_017742.6(ZCCHC2):c.1708T>G (p.Leu570Val)	ZCCHC2 (L213V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345465	NM_017742.6(ZCCHC2):c.260G>C (p.Gly87Ala)	ZCCHC2 (G87A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343101	NM_017742.6(ZCCHC2):c.73G>T (p.Ala25Ser)	ZCCHC2 (A25S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2338181	NM_017742.6(ZCCHC2):c.2827C>T (p.Pro943Ser)	ZCCHC2 (P586S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331247	NM_017742.6(ZCCHC2):c.1675T>C (p.Ser559Pro)	ZCCHC2 (S202P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330028	NM_017742.6(ZCCHC2):c.3461A>G (p.Asn1154Ser)	ZCCHC2 (N1154S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2328183	NM_017742.6(ZCCHC2):c.3361A>G (p.Ser1121Gly)	ZCCHC2 (S764G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323522	NM_017742.6(ZCCHC2):c.2626G>C (p.Val876Leu)	ZCCHC2 (V876L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322692	NM_017742.6(ZCCHC2):c.94A>G (p.Lys32Glu)	ZCCHC2 (K32E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314189	NM_017742.6(ZCCHC2):c.95A>C (p.Lys32Thr)	ZCCHC2 (K32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311835	NM_017742.6(ZCCHC2):c.275T>C (p.Leu92Pro)	ZCCHC2 (L92P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309329	NM_017742.6(ZCCHC2):c.2419G>T (p.Ala807Ser)	ZCCHC2 (A450S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305167	NM_017742.6(ZCCHC2):c.2614G>C (p.Ala872Pro)	ZCCHC2 (A515P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299659	NM_017742.6(ZCCHC2):c.78C>G (p.Asp26Glu)	ZCCHC2 (D26E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298530	NM_017742.6(ZCCHC2):c.2176A>G (p.Met726Val)	ZCCHC2 (M369V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298458	NM_017742.6(ZCCHC2):c.376G>A (p.Glu126Lys)	ZCCHC2 (E126K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294990	NM_017742.6(ZCCHC2):c.1706G>A (p.Ser569Asn)	ZCCHC2 (S212N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292582	NM_017742.6(ZCCHC2):c.406G>T (p.Asp136Tyr)	ZCCHC2 (D136Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290609	NM_017742.6(ZCCHC2):c.1810T>C (p.Ser604Pro)	ZCCHC2 (S604P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285216	NM_017742.6(ZCCHC2):c.1093A>C (p.Lys365Gln)	ZCCHC2 (K8Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280214	NM_017742.6(ZCCHC2):c.2289G>T (p.Glu763Asp)	ZCCHC2 (E763D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273544	NM_017742.6(ZCCHC2):c.3044G>T (p.Cys1015Phe)	ZCCHC2 (C1015F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273036	NM_017742.6(ZCCHC2):c.223G>C (p.Ala75Pro)	ZCCHC2 (A75P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259782	NM_017742.6(ZCCHC2):c.2087T>G (p.Leu696Arg)	ZCCHC2 (L339R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258025	NM_017742.6(ZCCHC2):c.760A>G (p.Arg254Gly)	ZCCHC2 (R254G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257437	NM_017742.6(ZCCHC2):c.502G>A (p.Ala168Thr)	ZCCHC2 (A168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254952	NM_017742.6(ZCCHC2):c.2345C>T (p.Ser782Leu)	ZCCHC2 (S425L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254229	NM_017742.6(ZCCHC2):c.1915C>T (p.Pro639Ser)	ZCCHC2 (P282S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251173	NM_017742.6(ZCCHC2):c.1728G>C (p.Lys576Asn)	ZCCHC2 (K576N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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