ClinVar for Gene (Select 25792) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267456	NM_001131016.2(CIZ1):c.194A>T (p.Gln65Leu)	CIZ1 (Q65L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267455	NM_001131016.2(CIZ1):c.935A>C (p.Gln312Pro)	CIZ1 (Q342P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257341	NM_001131016.2(CIZ1):c.1002C>T (p.Asp334=)	CIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3145189	NM_001131016.2(CIZ1):c.949C>G (p.Gln317Glu)	CIZ1 (Q312E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145188	NM_001131016.2(CIZ1):c.641G>A (p.Gly214Glu)	CIZ1 (G190E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145187	NM_001131016.2(CIZ1):c.368G>A (p.Arg123Gln)	CIZ1 (R153Q +3 more)	Single nucleotide variant (missense variant)	not specified	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 3145184	NM_001131016.2(CIZ1):c.157A>G (p.Met53Val)	CIZ1 (M83V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145183	NM_001131016.2(CIZ1):c.1034C>T (p.Ala345Val)	CIZ1 (A244V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3040746	NM_001131016.2(CIZ1):c.945C>T (p.Val315=)	CIZ1	Single nucleotide variant (synonymous variant)	CIZ1-related disorder	GLikely benign
Select item 3023928	NM_001131016.2(CIZ1):c.1220_1231del (p.403VQPQ[1])	CIZ1	Deletion (inframe_deletion +1 more)	Dystonic disorder	GUncertain significance
Select item 3023564	NM_001131016.2(CIZ1):c.499G>A (p.Val167Ile)	CIZ1 (V143I +3 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 3016901	NM_001131016.2(CIZ1):c.505A>G (p.Met169Val)	CIZ1 (M68V +3 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 3014750	NM_001131016.2(CIZ1):c.1063G>A (p.Val355Met)	CIZ1 (V355M +4 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2998626	NM_001131016.2(CIZ1):c.1293A>G (p.Thr431=)	CIZ1	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 2998625	NM_001131016.2(CIZ1):c.1436C>T (p.Thr479Ile)	CIZ1 (T378I +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2976304	NM_001131016.2(CIZ1):c.1341G>A (p.Glu447=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2955528	NM_001131016.2(CIZ1):c.27_86del (p.Gln15_Gln34del)	CIZ1	Deletion (inframe_deletion +1 more)	Dystonic disorder	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 2915858	NM_004408.4(DNM1):c.11G>A (p.Arg4His)	CIZ1, DNM1 (R4H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2915480	NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)	CIZ1, DNM1 (L12M)	Indel (missense variant +1 more)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
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 2906543	NM_001131016.2(CIZ1):c.358+10G>A	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2906085	NM_001131016.2(CIZ1):c.1348C>T (p.Pro450Ser)	CIZ1 (P349S +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2902372	NM_001131016.2(CIZ1):c.678_680delAGA (p.Glu227del)	CIZ1 (E203del +4 more)	Deletion (inframe_deletion)	Dystonic disorder	GUncertain significance
Select item 2897263	NM_001131016.2(CIZ1):c.1696C>T (p.Leu566=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2891265	NM_001131016.2(CIZ1):c.1438C>T (p.Pro480Ser)	CIZ1 (P419S +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2889869	NM_001131016.2(CIZ1):c.2146-14T>G	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2887467	NM_001131016.2(CIZ1):c.1499-20C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2884281	NM_001131016.2(CIZ1):c.1708C>T (p.Pro570Ser)	CIZ1 (P509S +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 2882204	NM_001131016.2(CIZ1):c.93G>T (p.Gln31His)	CIZ1 (Q31H +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 2868951	NM_001131016.2(CIZ1):c.1932G>A (p.Glu644=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2868051	NM_001131016.2(CIZ1):c.784T>C (p.Leu262=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2862600	NM_001131016.2(CIZ1):c.1255G>A (p.Val419Met)	CIZ1 (V449M +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 2860994	NM_001131016.2(CIZ1):c.588+15G>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2851915	NM_001131016.2(CIZ1):c.2643G>A (p.Thr881=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2851903	NM_001131016.2(CIZ1):c.1818+9dup	CIZ1	Duplication (intron variant)	Dystonic disorder	GLikely benign
Select item 2851229	NM_001131016.2(CIZ1):c.1751G>C (p.Ser584Thr)	CIZ1 (S504T +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2849778	NM_001131016.2(CIZ1):c.1142C>T (p.Pro381Leu)	CIZ1 (P411L +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
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 2833010	NM_001131016.2(CIZ1):c.2464C>T (p.Leu822=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2827918	NM_001131016.2(CIZ1):c.1299A>G (p.Pro433=)	CIZ1	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 2826411	NM_001131016.2(CIZ1):c.174G>C (p.Gly58=)	CIZ1	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 2826088	NM_004408.4(DNM1):c.2T>C (p.Met1Thr)	CIZ1, DNM1 (M1T)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 31A	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 2817142	NM_001131016.2(CIZ1):c.1735A>G (p.Thr579Ala)	CIZ1 (T478A +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 2816526	NM_004408.4(DNM1):c.161+5_161+6delinsTT	CIZ1, DNM1	Indel (intron variant)	Developmental and epileptic encephalopathy, 31A	GUncertain significance
Select item 2806843	NM_001131016.2(CIZ1):c.21G>A (p.Gln7=)	CIZ1	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 2791924	NM_001131016.2(CIZ1):c.579C>T (p.Pro193=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2791922	NM_001131016.2(CIZ1):c.1224G>T (p.Gln408His)	CIZ1 (Q307H +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 2787020	NM_001131016.2(CIZ1):c.788G>A (p.Arg263Lys)	CIZ1 (R162K +4 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2785765	NM_001131016.2(CIZ1):c.2049G>A (p.Leu683=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2780250	NM_001131016.2(CIZ1):c.27G>A (p.Gln9=)	CIZ1	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 2761024	NM_001131016.2(CIZ1):c.791+8A>T	CIZ1	Single nucleotide variant (intron 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 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 2758275	NM_001131016.2(CIZ1):c.2385C>T (p.Pro795=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2736915	NM_001131016.2(CIZ1):c.1605G>A (p.Ala535=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2733625	NM_001131016.2(CIZ1):c.200C>T (p.Pro67Leu)	CIZ1 (P97L +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 2729023	NM_001131016.2(CIZ1):c.683-18C>T	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2728438	NM_001131016.2(CIZ1):c.954C>T (p.Val318=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2728437	NM_001131016.2(CIZ1):c.1444G>T (p.Val482Leu)	CIZ1 (V402L +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2725289	NM_001131016.2(CIZ1):c.1623A>G (p.Val541=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2723872	NM_001131016.2(CIZ1):c.1392G>A (p.Gln464=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2723846	NM_001131016.2(CIZ1):c.1239A>G (p.Ser413=)	CIZ1	Single nucleotide variant (synonymous variant +1 more)	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 2721181	NM_001131016.2(CIZ1):c.695C>T (p.Pro232Leu)	CIZ1 (P131L +4 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2719852	NM_001131016.2(CIZ1):c.23_49del (p.Gln8_Gln16del)	CIZ1	Deletion (inframe_deletion +1 more)	Dystonic disorder	GUncertain significance
Select item 2718816	NM_001131016.2(CIZ1):c.683-20C>T	CIZ1	Single nucleotide variant (intron 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 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 2717203	NM_001131016.2(CIZ1):c.1712G>A (p.Arg571His)	CIZ1 (R491H +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder	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 2716765	NM_001131016.2(CIZ1):c.540C>G (p.Asn180Lys)	CIZ1 (N210K +3 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2715629	NM_001131016.2(CIZ1):c.1228C>G (p.Gln410Glu)	CIZ1 (Q410E +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 2715160	NM_001131016.2(CIZ1):c.1386T>C (p.His462=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2714874	NM_001131016.2(CIZ1):c.986G>A (p.Arg329Gln)	CIZ1 (R324Q +4 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 2711028	NM_001131016.2(CIZ1):c.1911C>T (p.Pro637=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GBenign
Select item 2701218	NM_001131016.2(CIZ1):c.525C>T (p.Asn175=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2693255	NM_001131016.2(CIZ1):c.1129C>T (p.Pro377Ser)	CIZ1 (P276S +4 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2688786	NM_001131016.2(CIZ1):c.703C>T (p.Pro235Ser)	CIZ1 (P134S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2659522	NM_004408.4(DNM1):c.102C>T (p.Ile34=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659521	NM_001131016.2(CIZ1):c.-6+173C>T	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659520	NM_001131016.2(CIZ1):c.467G>A (p.Arg156His)	CIZ1 (R132H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659519	NM_001131016.2(CIZ1):c.1188G>A (p.Glu396=)	CIZ1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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 2510727	NM_001131016.2(CIZ1):c.941G>A (p.Arg314Gln)	CIZ1 (R213Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500126	NM_004408.4(DNM1):c.97C>T (p.Gln33Ter)	CIZ1, DNM1 (Q33*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 31B	GPathogenic
Select item 2496441	NM_001131016.2(CIZ1):c.622A>C (p.Lys208Gln)	CIZ1 (K107Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492419	NM_001131016.2(CIZ1):c.42G>C (p.Gln14His)	CIZ1 (Q14H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491786	NM_001131016.2(CIZ1):c.1675C>T (p.Arg559Trp)	CIZ1 (R498W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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