"Ambry Genetics"[submitter] AND "ZNF133"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2235046	NM_001352452.2(ZNF133):c.89T>A (p.Met30Lys)	ZNF133 (M30K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2533250	NM_001352452.2(ZNF133):c.1367A>C (p.His456Pro)	ZNF133, ZNF133-AS1 (H392P +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2475048	NM_001352452.2(ZNF133):c.1742G>C (p.Arg581Thr)	ZNF133, ZNF133-AS1 (R486T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 23