ZC3HAV1[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	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 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	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 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	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 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 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 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 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 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 775256	NM_020119.4(ZC3HAV1):c.2118G>A (p.Ser706=)	ZC3HAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 785236	NM_020119.4(ZC3HAV1):c.1698-6del	ZC3HAV1	Deletion (intron variant)	not provided	GBenign
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 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 788271	NM_020119.4(ZC3HAV1):c.1641G>A (p.Thr547=)	ZC3HAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2387762	NM_020119.4(ZC3HAV1):c.1435G>A (p.Ala479Thr)	ZC3HAV1 (A479T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2396051	NM_020119.4(ZC3HAV1):c.1196C>T (p.Thr399Ile)	ZC3HAV1 (T399I)	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 2321963	NM_020119.4(ZC3HAV1):c.1154G>T (p.Arg385Leu)	ZC3HAV1 (R385L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2275408	NM_020119.4(ZC3HAV1):c.1139C>A (p.Thr380Lys)	ZC3HAV1 (T380K)	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 2263416	NM_020119.4(ZC3HAV1):c.1122G>C (p.Lys374Asn)	ZC3HAV1 (K374N)	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 2466702	NM_020119.4(ZC3HAV1):c.1000G>A (p.Gly334Ser)	ZC3HAV1 (G334S)	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 2265045	NM_020119.4(ZC3HAV1):c.913C>T (p.Arg305Cys)	ZC3HAV1 (R305C)	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 3192461	NM_020119.4(ZC3HAV1):c.884G>T (p.Arg295Leu)	ZC3HAV1 (R295L)	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 3192460	NM_020119.4(ZC3HAV1):c.797C>T (p.Ala266Val)	ZC3HAV1 (A266V)	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 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 2544714	NM_020119.4(ZC3HAV1):c.479A>C (p.Gln160Pro)	ZC3HAV1 (Q160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3192457	NM_020119.4(ZC3HAV1):c.376C>G (p.Leu126Val)	ZC3HAV1 (L126V)	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 2596731	NM_020119.4(ZC3HAV1):c.206G>A (p.Arg69Gln)	ZC3HAV1 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2251814	NM_020119.4(ZC3HAV1):c.22T>G (p.Cys8Gly)	ZC3HAV1 (C8G)	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 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	ADCK2, AGK +34 more	Deletion	not provided	GPathogenic
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	ZC3HAV1, ZC3HAV1L +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	ADCK2, AGBL3 +105 more	Copy number loss	Small face +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 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	MIR183, PARP12 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 99