ZCCHC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 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 3472740	NM_017742.6(ZCCHC2):c.77A>C (p.Asp26Ala)	ZCCHC2 (D26A)	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 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 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 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 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 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 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 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 3472728	NM_017742.6(ZCCHC2):c.182C>T (p.Pro61Leu)	ZCCHC2 (P61L)	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 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 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 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 3472725	NM_017742.6(ZCCHC2):c.224C>T (p.Ala75Val)	ZCCHC2 (A75V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3472720	NM_017742.6(ZCCHC2):c.239G>A (p.Gly80Asp)	ZCCHC2 (G80D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3472741	NM_017742.6(ZCCHC2):c.247G>A (p.Gly83Ser)	ZCCHC2 (G83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3472734	NM_017742.6(ZCCHC2):c.250G>C (p.Gly84Arg)	ZCCHC2 (G84R)	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 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 3472738	NM_017742.6(ZCCHC2):c.272C>A (p.Ala91Glu)	ZCCHC2 (A91E)	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 2648778	NM_017742.6(ZCCHC2):c.363G>C (p.Leu121=)	ZCCHC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2204732	NM_017742.6(ZCCHC2):c.448G>A (p.Ala150Thr)	ZCCHC2 (A150T)	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 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 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 3472739	NM_017742.6(ZCCHC2):c.558G>T (p.Glu186Asp)	ZCCHC2 (E186D)	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 3472737	NM_017742.6(ZCCHC2):c.719G>A (p.Gly240Asp)	ZCCHC2 (G240D)	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 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 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 3472716	NM_017742.6(ZCCHC2):c.823C>T (p.His275Tyr)	ZCCHC2 (H275Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3472717	NM_017742.6(ZCCHC2):c.844G>A (p.Glu282Lys)	ZCCHC2 (E282K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3472729	NM_017742.6(ZCCHC2):c.857G>A (p.Arg286Lys)	ZCCHC2 (R286K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3472736	NM_017742.6(ZCCHC2):c.898G>A (p.Val300Met)	LOC130062636, ZCCHC2 (V300M)	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 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 2221520	NM_017742.6(ZCCHC2):c.950C>T (p.Ala317Val)	ZCCHC2 (A317V)	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 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 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 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 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 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 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 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 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 3472722	NM_017742.6(ZCCHC2):c.1106A>G (p.Lys369Arg)	ZCCHC2 (K369R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648779	NM_017742.6(ZCCHC2):c.1201-5del	ZCCHC2	Deletion (intron variant)	not provided	GLikely benign
Select item 3472732	NM_017742.6(ZCCHC2):c.1210G>C (p.Glu404Gln)	ZCCHC2 (E404Q)	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 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 3472730	NM_017742.6(ZCCHC2):c.1496T>G (p.Val499Gly)	ZCCHC2 (V499G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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