ClinVar for Gene (Select 56829) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334120	NM_020119.4(ZC3HAV1):c.2470G>C (p.Ala824Pro)	ZC3HAV1 (A824P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334119	NM_020119.4(ZC3HAV1):c.143G>A (p.Arg48His)	ZC3HAV1 (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334117	NM_020119.4(ZC3HAV1):c.1740T>G (p.Ser580Arg)	ZC3HAV1 (S580R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334116	NM_020119.4(ZC3HAV1):c.802G>C (p.Ala268Pro)	ZC3HAV1 (A268P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334115	NM_020119.4(ZC3HAV1):c.748A>G (p.Arg250Gly)	ZC3HAV1 (R250G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334114	NM_020119.4(ZC3HAV1):c.914G>A (p.Arg305His)	ZC3HAV1 (R305H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192461	NM_020119.4(ZC3HAV1):c.884G>T (p.Arg295Leu)	ZC3HAV1 (R295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192460	NM_020119.4(ZC3HAV1):c.797C>T (p.Ala266Val)	ZC3HAV1 (A266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192459	NM_020119.4(ZC3HAV1):c.745A>G (p.Ser249Gly)	ZC3HAV1 (S249G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192458	NM_020119.4(ZC3HAV1):c.547C>T (p.Arg183Cys)	ZC3HAV1 (R183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192457	NM_020119.4(ZC3HAV1):c.376C>G (p.Leu126Val)	ZC3HAV1 (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192456	NM_020119.4(ZC3HAV1):c.2631T>G (p.Phe877Leu)	ZC3HAV1 (F877L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192455	NM_020119.4(ZC3HAV1):c.2020A>G (p.Lys674Glu)	ZC3HAV1 (K796E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192454	NM_020119.4(ZC3HAV1):c.1937C>T (p.Pro646Leu)	ZC3HAV1 (P646L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192453	NM_020119.4(ZC3HAV1):c.1909T>C (p.Tyr637His)	ZC3HAV1 (Y637H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192452	NM_020119.4(ZC3HAV1):c.1811C>T (p.Thr604Ile)	ZC3HAV1 (T604I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192451	NM_020119.4(ZC3HAV1):c.1769C>G (p.Ser590Cys)	ZC3HAV1 (S712C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192450	NM_020119.4(ZC3HAV1):c.1687G>A (p.Gly563Arg)	ZC3HAV1 (G563R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192449	NM_020119.4(ZC3HAV1):c.1673G>C (p.Gly558Ala)	ZC3HAV1 (G680A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192448	NM_020119.4(ZC3HAV1):c.1498A>G (p.Thr500Ala)	ZC3HAV1 (T622A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192447	NM_020119.4(ZC3HAV1):c.1154G>A (p.Arg385His)	ZC3HAV1 (R385H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2596731	NM_020119.4(ZC3HAV1):c.206G>A (p.Arg69Gln)	ZC3HAV1 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2544714	NM_020119.4(ZC3HAV1):c.479A>C (p.Gln160Pro)	ZC3HAV1 (Q160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543873	NM_020119.4(ZC3HAV1):c.1620G>A (p.Met540Ile)	ZC3HAV1 (M662I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541034	NM_020119.4(ZC3HAV1):c.2396C>T (p.Ser799Leu)	ZC3HAV1 (S921L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539573	NM_020119.4(ZC3HAV1):c.250A>T (p.Asn84Tyr)	ZC3HAV1 (N84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529582	NM_020119.4(ZC3HAV1):c.1097C>T (p.Thr366Met)	ZC3HAV1 (T366M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512954	NM_020119.4(ZC3HAV1):c.1969C>T (p.Arg657Trp)	ZC3HAV1 (R657W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496203	NM_020119.4(ZC3HAV1):c.1799A>T (p.Asn600Ile)	ZC3HAV1 (N722I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474849	NM_020119.4(ZC3HAV1):c.1748C>T (p.Ser583Phe)	ZC3HAV1 (S705F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474388	NM_020119.4(ZC3HAV1):c.2117C>T (p.Ser706Leu)	ZC3HAV1 (S167L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466702	NM_020119.4(ZC3HAV1):c.1000G>A (p.Gly334Ser)	ZC3HAV1 (G334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463278	NM_020119.4(ZC3HAV1):c.1150G>A (p.Ala384Thr)	ZC3HAV1 (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459842	NM_020119.4(ZC3HAV1):c.2144G>A (p.Arg715His)	ZC3HAV1 (R176H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455749	NM_020119.4(ZC3HAV1):c.2143C>T (p.Arg715Cys)	ZC3HAV1 (R176C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	SSBP1, TAS2R3 +34 more	Deletion	not provided	GPathogenic
Select item 2412383	NM_020119.4(ZC3HAV1):c.472C>T (p.Arg158Trp)	ZC3HAV1 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396051	NM_020119.4(ZC3HAV1):c.1196C>T (p.Thr399Ile)	ZC3HAV1 (T399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389956	NM_020119.4(ZC3HAV1):c.2053T>C (p.Phe685Leu)	ZC3HAV1 (F685L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387762	NM_020119.4(ZC3HAV1):c.1435G>A (p.Ala479Thr)	ZC3HAV1 (A479T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387081	NM_020119.4(ZC3HAV1):c.166G>A (p.Gly56Ser)	ZC3HAV1 (G56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380656	NM_020119.4(ZC3HAV1):c.2210A>G (p.His737Arg)	ZC3HAV1 (H198R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361641	NM_020119.4(ZC3HAV1):c.1233G>C (p.Arg411Ser)	ZC3HAV1 (R411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353774	NM_020119.4(ZC3HAV1):c.2158T>G (p.Phe720Val)	ZC3HAV1 (F842V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321963	NM_020119.4(ZC3HAV1):c.1154G>T (p.Arg385Leu)	ZC3HAV1 (R385L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320803	NM_020119.4(ZC3HAV1):c.893C>G (p.Thr298Arg)	ZC3HAV1 (T298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286320	NM_020119.4(ZC3HAV1):c.2596A>G (p.Ser866Gly)	ZC3HAV1 (S327G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281643	NM_020119.4(ZC3HAV1):c.950A>C (p.Asp317Ala)	ZC3HAV1 (D317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277026	NM_020119.4(ZC3HAV1):c.781C>A (p.Leu261Ile)	ZC3HAV1 (L261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275408	NM_020119.4(ZC3HAV1):c.1139C>A (p.Thr380Lys)	ZC3HAV1 (T380K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265045	NM_020119.4(ZC3HAV1):c.913C>T (p.Arg305Cys)	ZC3HAV1 (R305C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263416	NM_020119.4(ZC3HAV1):c.1122G>C (p.Lys374Asn)	ZC3HAV1 (K374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256118	NM_020119.4(ZC3HAV1):c.844A>G (p.Arg282Gly)	ZC3HAV1 (R282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251814	NM_020119.4(ZC3HAV1):c.22T>G (p.Cys8Gly)	ZC3HAV1 (C8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232285	NM_020119.4(ZC3HAV1):c.1665C>G (p.Ile555Met)	ZC3HAV1 (I677M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207601	NM_020119.4(ZC3HAV1):c.1130T>A (p.Phe377Tyr)	ZC3HAV1 (F377Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815042	GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	TRIM24, PARP12 +20 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 788271	NM_020119.4(ZC3HAV1):c.1641G>A (p.Thr547=)	ZC3HAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785236	NM_020119.4(ZC3HAV1):c.1698-6del	ZC3HAV1	Deletion (intron variant)	not provided	GBenign
Select item 775256	NM_020119.4(ZC3HAV1):c.2118G>A (p.Ser706=)	ZC3HAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685702	GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1	AKR1D1, ATP6V0A4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 685350	GRCh37/hg19 7q33-34(chr7:137848980-138897699)x3	ATP6V0A4, KIAA1549 +6 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic

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