ZNF592[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153577	GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 154518	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3	LOC130057805, LOC130057806 +40 more	Copy number gain	See cases	GUncertain significance
Select item 148405	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1	ALPK3, LINC00933 +41 more	Copy number loss	See cases	GUncertain significance
Select item 146523	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1	ALPK3, LINC00933 +40 more	Copy number loss	See cases	GUncertain significance
Select item 57536	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 560037	Single allele	ALPK3, LINC00933 +39 more	Deletion	not provided	GUncertain significance
Select item 3197026	NM_014630.3(ZNF592):c.85G>C (p.Ala29Pro)	ZNF592 (A29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223905	NM_014630.3(ZNF592):c.118C>T (p.Pro40Ser)	ZNF592 (P40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206146	NM_014630.3(ZNF592):c.169T>G (p.Ser57Ala)	ZNF592 (S57A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3197005	NM_014630.3(ZNF592):c.182C>T (p.Pro61Leu)	ZNF592 (P61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645649	NM_014630.3(ZNF592):c.183C>T (p.Pro61=)	ZNF592	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2300426	NM_014630.3(ZNF592):c.191C>T (p.Pro64Leu)	ZNF592 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512729	NM_014630.3(ZNF592):c.256A>G (p.Ile86Val)	ZNF592 (I86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390272	NM_014630.3(ZNF592):c.266G>A (p.Ser89Asn)	ZNF592 (S89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610702	NM_014630.3(ZNF592):c.278A>G (p.Asn93Ser)	ZNF592 (N93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616442	NM_014630.3(ZNF592):c.292T>C (p.Ser98Pro)	ZNF592 (S98P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3043504	NM_014630.3(ZNF592):c.379C>A (p.Leu127Met)	ZNF592 (L127M)	Single nucleotide variant (missense variant)	ZNF592-related disorder	GBenign
Select item 2330824	NM_014630.3(ZNF592):c.407C>G (p.Pro136Arg)	ZNF592 (P136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197022	NM_014630.3(ZNF592):c.464A>G (p.Asp155Gly)	ZNF592 (D155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057309	NM_014630.3(ZNF592):c.468C>T (p.Asn156=)	ZNF592	Single nucleotide variant (synonymous variant)	ZNF592-related disorder	GLikely benign
Select item 3197023	NM_014630.3(ZNF592):c.469G>A (p.Gly157Arg)	ZNF592 (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223579	NM_014630.3(ZNF592):c.484C>T (p.Pro162Ser)	ZNF592 (P162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388572	NM_014630.3(ZNF592):c.514C>A (p.Pro172Thr)	ZNF592 (P172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384343	NM_014630.3(ZNF592):c.515C>T (p.Pro172Leu)	ZNF592 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361868	NM_014630.3(ZNF592):c.515C>G (p.Pro172Arg)	ZNF592 (P172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368669	NM_014630.3(ZNF592):c.526G>A (p.Gly176Arg)	ZNF592 (G176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258824	NM_014630.3(ZNF592):c.548T>C (p.Leu183Pro)	ZNF592 (L183P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282815	NM_014630.3(ZNF592):c.569C>T (p.Pro190Leu)	ZNF592 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197024	NM_014630.3(ZNF592):c.605A>G (p.Lys202Arg)	ZNF592 (K202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508515	NM_014630.3(ZNF592):c.614C>T (p.Pro205Leu)	ZNF592 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305670	NM_014630.3(ZNF592):c.619C>G (p.Pro207Ala)	ZNF592 (P207A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231383	NM_014630.3(ZNF592):c.664G>C (p.Gly222Arg)	ZNF592 (G222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312929	NM_014630.3(ZNF592):c.671A>G (p.Asn224Ser)	ZNF592 (N224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258825	NM_014630.3(ZNF592):c.682C>T (p.Pro228Ser)	ZNF592 (P228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508770	NM_014630.3(ZNF592):c.688A>C (p.Lys230Gln)	ZNF592 (K230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052828	NM_014630.3(ZNF592):c.696G>A (p.Pro232=)	ZNF592	Single nucleotide variant (synonymous variant)	ZNF592-related disorder	GLikely benign
Select item 2282535	NM_014630.3(ZNF592):c.716G>A (p.Gly239Glu)	ZNF592 (G239E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536066	NM_014630.3(ZNF592):c.776C>T (p.Ala259Val)	ZNF592 (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618735	NM_014630.3(ZNF592):c.805C>G (p.Pro269Ala)	ZNF592 (P269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197025	NM_014630.3(ZNF592):c.808C>G (p.Pro270Ala)	ZNF592 (P270A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372290	NM_014630.3(ZNF592):c.809C>T (p.Pro270Leu)	ZNF592 (P270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776940	NM_014630.3(ZNF592):c.892A>G (p.Ser298Gly)	ZNF592 (S298G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2205125	NM_014630.3(ZNF592):c.901A>C (p.Lys301Gln)	ZNF592 (K301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330497	NM_014630.3(ZNF592):c.907G>C (p.Asp303His)	ZNF592 (D303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366005	NM_014630.3(ZNF592):c.928G>T (p.Asp310Tyr)	ZNF592 (D310Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258831	NM_014630.3(ZNF592):c.953G>A (p.Ser318Asn)	ZNF592 (S318N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354524	NM_014630.3(ZNF592):c.998G>A (p.Arg333Gln)	ZNF592 (R333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774500	NM_014630.3(ZNF592):c.1049G>A (p.Arg350His)	ZNF592 (R350H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3197000	NM_014630.3(ZNF592):c.1077A>T (p.Lys359Asn)	ZNF592 (K359N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197001	NM_014630.3(ZNF592):c.1258G>A (p.Glu420Lys)	ZNF592 (E420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259787	NM_014630.3(ZNF592):c.1423C>T (p.Pro475Ser)	ZNF592 (P475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401706	NM_014630.3(ZNF592):c.1427G>A (p.Gly476Asp)	ZNF592 (G476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212689	NM_014630.3(ZNF592):c.1618C>T (p.Leu540=)	ZNF592	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 3197002	NM_014630.3(ZNF592):c.1682G>C (p.Ser561Thr)	ZNF592 (S561T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197003	NM_014630.3(ZNF592):c.1693G>A (p.Val565Met)	ZNF592 (V565M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197004	NM_014630.3(ZNF592):c.1750G>A (p.Ala584Thr)	ZNF592 (A584T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366989	NM_014630.3(ZNF592):c.1831G>A (p.Val611Ile)	ZNF592 (V611I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258826	NM_014630.3(ZNF592):c.1862C>A (p.Ser621Tyr)	ZNF592 (S621Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258822	NM_014630.3(ZNF592):c.1900C>T (p.Arg634Trp)	ZNF592 (R634W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258821	NM_014630.3(ZNF592):c.1901G>A (p.Arg634Gln)	ZNF592 (R634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601478	NM_014630.3(ZNF592):c.1933G>A (p.Val645Ile)	ZNF592 (V645I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207333	NM_014630.3(ZNF592):c.1973C>T (p.Ala658Val)	ZNF592 (A658V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932053	NM_014630.3(ZNF592):c.2009C>T (p.Thr670Met)	ZNF592 (T670M)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3197007	NM_014630.3(ZNF592):c.2080C>T (p.Pro694Ser)	ZNF592 (P694S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197008	NM_014630.3(ZNF592):c.2101C>G (p.Pro701Ala)	ZNF592 (P701A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197009	NM_014630.3(ZNF592):c.2131A>G (p.Ile711Val)	ZNF592 (I711V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258823	NM_014630.3(ZNF592):c.2161C>G (p.Arg721Gly)	ZNF592 (R721G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 587477	NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp)	ZNF592 (R721W)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 1245527	NM_014630.3(ZNF592):c.2220+226C>T	ZNF592	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130839	NM_014630.3(ZNF592):c.2238A>G (p.Gln746=)	ZNF592	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3039839	NM_014630.3(ZNF592):c.2242C>T (p.Leu748=)	ZNF592	Single nucleotide variant (synonymous variant)	ZNF592-related disorder	GLikely benign
Select item 3197010	NM_014630.3(ZNF592):c.2332C>G (p.Arg778Gly)	ZNF592 (R778G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263001	NM_014630.3(ZNF592):c.2399+218G>A	ZNF592	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2604438	NM_014630.3(ZNF592):c.2404A>G (p.Ile802Val)	ZNF592 (I802V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197011	NM_014630.3(ZNF592):c.2503G>A (p.Ala835Thr)	ZNF592 (A835T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048272	NM_014630.3(ZNF592):c.2559G>C (p.Gln853His)	ZNF592 (Q853H)	Single nucleotide variant (missense variant)	ZNF592-related disorder	GLikely benign
Select item 2401050	NM_014630.3(ZNF592):c.2560C>A (p.Pro854Thr)	ZNF592 (P854T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211098	NM_014630.3(ZNF592):c.2567G>A (p.Arg856Lys)	ZNF592 (R856K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197013	NM_014630.3(ZNF592):c.2624A>G (p.His875Arg)	ZNF592 (H875R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308006	NM_014630.3(ZNF592):c.2660C>T (p.Thr887Met)	ZNF592 (T887M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399568	NM_014630.3(ZNF592):c.2671G>A (p.Val891Ile)	ZNF592 (V891I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326004	NM_014630.3(ZNF592):c.2700G>T (p.Leu900Phe)	ZNF592 (L900F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313169	NM_014630.3(ZNF592):c.2704G>A (p.Val902Met)	ZNF592 (V902M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548552	NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile)	ZNF592 (V911I)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 2411482	NM_014630.3(ZNF592):c.2756G>A (p.Arg919Gln)	ZNF592 (R919Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391860	NM_014630.3(ZNF592):c.2767G>A (p.Glu923Lys)	ZNF592 (E923K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 130840	NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn)	ZNF592 (S926N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3354805	NM_014630.3(ZNF592):c.2789C>G (p.Ser930Ter)	ZNF592 (S930*)	Single nucleotide variant (nonsense)	ZNF592-related disorder	GUncertain significance
Select item 3197014	NM_014630.3(ZNF592):c.2792C>T (p.Ala931Val)	ZNF592 (A931V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3352618	NM_014630.3(ZNF592):c.2802C>T (p.Ser934=)	ZNF592	Single nucleotide variant (synonymous variant)	ZNF592-related disorder	GLikely benign
Select item 2314611	NM_014630.3(ZNF592):c.2809C>T (p.Arg937Cys)	ZNF592 (R937C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347098	NM_014630.3(ZNF592):c.2810G>T (p.Arg937Leu)	ZNF592 (R937L)	Single nucleotide variant (missense variant)	ZNF592-related disorder	GUncertain significance
Select item 2219075	NM_014630.3(ZNF592):c.2860C>T (p.Arg954Trp)	ZNF592 (R954W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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