ZNF133[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2235046	NM_001352452.2(ZNF133):c.89T>A (p.Met30Lys)	ZNF133 (M30K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193999	NM_001352452.2(ZNF133):c.148A>G (p.Ile50Val)	ZNF133 (I53V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602605	NM_001352452.2(ZNF133):c.170A>G (p.Lys57Arg)	ZNF133 (K25R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223722	NM_001352452.2(ZNF133):c.202C>G (p.Pro68Ala)	ZNF133 (P36A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334931	NM_001352452.2(ZNF133):c.239A>G (p.Tyr80Cys)	ZNF133, ZNF133-AS1 (Y17C +11 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2385936	NM_001352452.2(ZNF133):c.260C>T (p.Pro87Leu)	ZNF133, ZNF133-AS1 (P104L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334933	NM_001352452.2(ZNF133):c.324C>G (p.Phe108Leu)	ZNF133, ZNF133-AS1 (F144L +12 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248297	NM_001352452.2(ZNF133):c.389A>G (p.Gln130Arg)	ZNF133, ZNF133-AS1 (Q132R +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234264	NM_001352452.2(ZNF133):c.403G>A (p.Glu135Lys)	ZNF133, ZNF133-AS1 (E103K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410537	NM_001352452.2(ZNF133):c.457C>T (p.Pro153Ser)	ZNF133, ZNF133-AS1 (P121S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471760	NM_001352452.2(ZNF133):c.538G>A (p.Gly180Ser)	ZNF133, ZNF133-AS1 (G116S +12 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532171	NM_001352452.2(ZNF133):c.548G>A (p.Gly183Glu)	ZNF133, ZNF133-AS1 (G176E +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206840	NM_001352452.2(ZNF133):c.580G>A (p.Gly194Arg)	ZNF133, ZNF133-AS1 (G130R +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334932	NM_001352452.2(ZNF133):c.650G>A (p.Gly217Glu)	ZNF133, ZNF133-AS1 (G154E +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211162	NM_001352452.2(ZNF133):c.742G>A (p.Glu248Lys)	ZNF133, ZNF133-AS1 (E153K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344449	NM_001352452.2(ZNF133):c.755G>A (p.Ser252Asn)	ZNF133, ZNF133-AS1 (S245N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473999	NM_001352452.2(ZNF133):c.765G>C (p.Lys255Asn)	ZNF133, ZNF133-AS1 (K160N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334929	NM_001352452.2(ZNF133):c.772G>A (p.Ala258Thr)	ZNF133, ZNF133-AS1 (A194T +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335651	NM_001352452.2(ZNF133):c.794C>T (p.Ser265Leu)	ZNF133, ZNF133-AS1 (S202L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373932	NM_001352452.2(ZNF133):c.865G>A (p.Glu289Lys)	ZNF133, ZNF133-AS1 (E194K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194005	NM_001352452.2(ZNF133):c.895A>G (p.Met299Val)	ZNF133, ZNF133-AS1 (M204V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381907	NM_001352452.2(ZNF133):c.1093G>A (p.Asp365Asn)	ZNF133, ZNF133-AS1 (D270N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769078	NM_001352452.2(ZNF133):c.1275C>T (p.Leu425=)	ZNF133, ZNF133-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2533250	NM_001352452.2(ZNF133):c.1367A>C (p.His456Pro)	ZNF133, ZNF133-AS1 (H392P +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522876	NM_001352452.2(ZNF133):c.1371G>C (p.Gln457His)	ZNF133, ZNF133-AS1 (Q457H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193998	NM_001352452.2(ZNF133):c.1418G>A (p.Arg473Gln)	ZNF133, ZNF133-AS1 (R378Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474895	NM_001352452.2(ZNF133):c.1439A>G (p.Asn480Ser)	ZNF133, ZNF133-AS1 (N497S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356255	NM_001352452.2(ZNF133):c.1496G>T (p.Cys499Phe)	ZNF133, ZNF133-AS1 (C436F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378366	NM_001352452.2(ZNF133):c.1597C>T (p.His533Tyr)	ZNF133, ZNF133-AS1 (H438Y +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346625	NM_001352452.2(ZNF133):c.1624C>T (p.Arg542Trp)	ZNF133, ZNF133-AS1 (R510W +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194000	NM_001352452.2(ZNF133):c.1679G>C (p.Gly560Ala)	ZNF133, ZNF133-AS1 (G528A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769079	NM_001352452.2(ZNF133):c.1719G>A (p.Ser573=)	ZNF133, ZNF133-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2475048	NM_001352452.2(ZNF133):c.1742G>C (p.Arg581Thr)	ZNF133, ZNF133-AS1 (R486T +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334930	NM_001352452.2(ZNF133):c.1798C>A (p.His600Asn)	ZNF133, ZNF133-AS1 (H617N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194002	NM_001352452.2(ZNF133):c.1802C>T (p.Thr601Met)	ZNF133, ZNF133-AS1 (T538M +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194003	NM_001352452.2(ZNF133):c.1882A>C (p.Thr628Pro)	ZNF133, ZNF133-AS1 (T645P +12 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3194004	NM_001352452.2(ZNF133):c.1883C>T (p.Thr628Met)	ZNF133, ZNF133-AS1 (T565M +12 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3248265	NC_000020.10:g.(?_17603729)_(18541384_?)del	RBBP9, RRBP1 +10 more	Deletion	Congenital dyserythropoietic anemia, type II +1 more	GPathogenic
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068497	NC_000020.10:g.18200000_22600000del	CFAP61, CRNKL1 +19 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 2685644	GRCh37/hg19 20p11.23(chr20:18267972-18341814)x1	ZNF133	Copy number loss	not provided	GUncertain significance
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 564624	GRCh37/hg19 20p11.23(chr20:18164841-18500917)x3	DZANK1, KAT14 +4 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 63