CIZ1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 434

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	BBLN, CERCAM +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2916866	NM_001131016.2(CIZ1):c.2687T>C (p.Leu896Pro)	CIZ1 (L840P +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2249894	NM_001131016.2(CIZ1):c.2681C>T (p.Thr894Ile)	CIZ1 (T814I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2759055	NM_001131016.2(CIZ1):c.2674C>T (p.Arg892Cys)	CIZ1 (R791C +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2882341	NM_001131016.2(CIZ1):c.2652C>T (p.Pro884=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2171235	NM_001131016.2(CIZ1):c.2648G>A (p.Arg883Gln)	CIZ1 (R827Q +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2851915	NM_001131016.2(CIZ1):c.2643G>A (p.Thr881=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2760422	NM_001131016.2(CIZ1):c.2642C>T (p.Thr881Met)	CIZ1 (T825M +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 935965	NM_001131016.2(CIZ1):c.2636A>G (p.Lys879Arg)	CIZ1 (K778R +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2202278	NM_001131016.2(CIZ1):c.2626A>G (p.Thr876Ala)	CIZ1 (T775A +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1920687	NM_001131016.2(CIZ1):c.2616C>A (p.Thr872=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2659518	NM_001131016.2(CIZ1):c.2595C>G (p.Arg865=)	CIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 664905	NM_001131016.2(CIZ1):c.2594G>A (p.Arg865His)	CIZ1 (R804H +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 1155578	NM_001131016.2(CIZ1):c.2589C>T (p.Ser863=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 948600	NM_001131016.2(CIZ1):c.2573C>T (p.Ala858Val)	CIZ1 (A797V +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 3145186	NM_001131016.2(CIZ1):c.2563G>A (p.Ala855Thr)	CIZ1 (A775T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2716860	NM_001131016.2(CIZ1):c.2563G>T (p.Ala855Ser)	CIZ1 (A754S +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 695540	NM_001131016.2(CIZ1):c.2562C>T (p.Asn854=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GBenign/Likely benign
Select item 2011828	NM_001131016.2(CIZ1):c.2553C>T (p.Asn851=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 413837	NM_001131016.2(CIZ1):c.2540G>A (p.Arg847Gln)	CIZ1 (R847Q +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GBenign
Select item 1108507	NM_001131016.2(CIZ1):c.2520C>T (p.Thr840=)	CIZ1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2604716	NM_001131016.2(CIZ1):c.2505G>T (p.Lys835Asn)	CIZ1 (K891N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316668	NM_001131016.2(CIZ1):c.2498C>G (p.Ala833Gly)	CIZ1 (A732G +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1127801	NM_001131016.2(CIZ1):c.2493C>T (p.Tyr831=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 702968	NM_001131016.2(CIZ1):c.2490A>G (p.Lys830=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1095075	NM_001131016.2(CIZ1):c.2488-10C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2722332	NM_001131016.2(CIZ1):c.2488-16C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1293856	NM_001131016.2(CIZ1):c.2488-127G>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2833010	NM_001131016.2(CIZ1):c.2464C>T (p.Leu822=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2123146	NM_001131016.2(CIZ1):c.2433C>T (p.Asn811=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2547492	NM_001131016.2(CIZ1):c.2407A>G (p.Ile803Val)	CIZ1 (I702V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2837623	NM_001131016.2(CIZ1):c.2392G>A (p.Gly798Ser)	CIZ1 (G798S +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2361976	NM_001131016.2(CIZ1):c.2386G>A (p.Val796Met)	CIZ1 (V735M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2758275	NM_001131016.2(CIZ1):c.2385C>T (p.Pro795=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1557205	NM_001131016.2(CIZ1):c.2366-12C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2094921	NM_001131016.2(CIZ1):c.2365+10C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2141233	NM_001131016.2(CIZ1):c.2342C>G (p.Thr781Ser)	CIZ1 (T680S +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2712926	NM_001131016.2(CIZ1):c.2337G>A (p.Ser779=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GUncertain significance
Select item 2202784	NM_001131016.2(CIZ1):c.2336C>T (p.Ser779Leu)	CIZ1 (S718L +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1417944	NM_001131016.2(CIZ1):c.2333G>A (p.Gly778Asp)	CIZ1 (G717D +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1999488	NM_001131016.2(CIZ1):c.2322G>C (p.Glu774Asp)	CIZ1 (E718D +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2065267	NM_001131016.2(CIZ1):c.2314T>C (p.Ser772Pro)	CIZ1 (S671P +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2823593	NM_001131016.2(CIZ1):c.2296-11C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GUncertain significance
Select item 1590386	NM_001131016.2(CIZ1):c.2296-18A>G	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1227473	NM_001131016.2(CIZ1):c.2296-308T>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293866	NM_001131016.2(CIZ1):c.2295+263G>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1055590	NM_001131016.2(CIZ1):c.2295+6G>A	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GUncertain significance
Select item 2070475	NM_001131016.2(CIZ1):c.2269G>A (p.Glu757Lys)	CIZ1 (E677K +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1419682	NM_001131016.2(CIZ1):c.2268C>G (p.Ile756Met)	CIZ1 (I676M +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2179493	NM_001131016.2(CIZ1):c.2251G>A (p.Glu751Lys)	CIZ1 (E671K +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1940033	NM_001131016.2(CIZ1):c.2246A>T (p.Asp749Val)	CIZ1 (D749V +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1152520	NM_001131016.2(CIZ1):c.2238G>A (p.Glu746=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2322131	NM_001131016.2(CIZ1):c.2225G>A (p.Gly742Asp)	CIZ1 (G641D +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1569252	NM_001131016.2(CIZ1):c.2220C>T (p.Phe740=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2329405	NM_001131016.2(CIZ1):c.2209G>A (p.Val737Met)	CIZ1 (V636M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 240852	NM_001131016.2(CIZ1):c.2205C>T (p.Asp735=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GBenign
Select item 2889869	NM_001131016.2(CIZ1):c.2146-14T>G	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1291943	NM_001131016.2(CIZ1):c.2145+99G>T	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1650876	NM_001131016.2(CIZ1):c.2145+13C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GBenign
Select item 2192054	NM_001131016.2(CIZ1):c.2139C>T (p.Ala713=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2718702	NM_001131016.2(CIZ1):c.2118C>A (p.Ser706=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 573162	NM_001131016.2(CIZ1):c.2065G>A (p.Val689Ile)	CIZ1 (V689I +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2785765	NM_001131016.2(CIZ1):c.2049G>A (p.Leu683=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2191233	NM_001131016.2(CIZ1):c.2043A>G (p.Gln681=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2195025	NM_001131016.2(CIZ1):c.2033T>C (p.Ile678Thr)	CIZ1 (I577T +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 585084	NM_001131016.2(CIZ1):c.2032-138A>G	CIZ1 (Q722R)	Single nucleotide variant (missense variant +1 more)	Dystonia, primary cervical	Gnot provided
Select item 1289226	NM_001131016.2(CIZ1):c.2031+17G>A	CIZ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2065346	NM_001131016.2(CIZ1):c.2031+16C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder +1 more	GBenign
Select item 2664743	NM_001131016.2(CIZ1):c.2023G>C (p.Asp675His)	CIZ1 (D574H +5 more)	Single nucleotide variant (missense variant)	Dystonia 23	GUncertain significance
Select item 2717479	NM_001131016.2(CIZ1):c.2017A>T (p.Thr673Ser)	CIZ1 (T612S +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1377305	NM_001131016.2(CIZ1):c.1997A>G (p.Asp666Gly)	CIZ1 (D586G +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1138311	NM_001131016.2(CIZ1):c.1995G>A (p.Gly665=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2073616	NM_001131016.2(CIZ1):c.1968C>T (p.Cys656=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2910059	NM_001131016.2(CIZ1):c.1961G>A (p.Arg654His)	CIZ1 (R553H +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 413832	NM_001131016.2(CIZ1):c.1957A>C (p.Arg653=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GBenign
Select item 1290483	NM_001131016.2(CIZ1):c.1944-12_1944-11del	CIZ1	Deletion (intron variant)	Dystonic disorder +1 more	GBenign
Select item 1987242	NM_001131016.2(CIZ1):c.1944-20C>A	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1965048	NM_001131016.2(CIZ1):c.1943+15G>A	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2069308	NM_001131016.2(CIZ1):c.1943+14C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GBenign
Select item 2061834	NM_001131016.2(CIZ1):c.1934C>G (p.Thr645Arg)	CIZ1 (T589R +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
Select item 2868951	NM_001131016.2(CIZ1):c.1932G>A (p.Glu644=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 863324	NM_001131016.2(CIZ1):c.1930G>A (p.Glu644Lys)	CIZ1 (E674K +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance

<< First< Prev

Page of 5