ClinVar for Gene (Select 10472) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372058	NM_205768.3(ZBTB18):c.228C>A (p.Ser76Arg)	ZBTB18 (S67R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365161	NM_205768.3(ZBTB18):c.1426G>C (p.Ala476Pro)	ZBTB18 (A467P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361748	NM_205768.3(ZBTB18):c.1357G>A (p.Gly453Ser)	ZBTB18 (G444S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3361463	NM_205768.3(ZBTB18):c.163A>G (p.Ser55Gly)	ZBTB18 (S46G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355285	NM_205768.3(ZBTB18):c.946G>A (p.Val316Ile)	ZBTB18 (V307I +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB18-related disorder	GUncertain significance
Select item 3344350	NM_205768.3(ZBTB18):c.1484G>T (p.Arg495Leu)	ZBTB18 (R486L +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB18-related disorder	GUncertain significance
Select item 3342197	NM_205768.3(ZBTB18):c.1414G>T (p.Glu472Ter)	ZBTB18 (E463* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3342065	NM_205768.3(ZBTB18):c.1206C>G (p.Phe402Leu)	ZBTB18 (F393L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3333865	NM_205768.3(ZBTB18):c.886A>G (p.Thr296Ala)	ZBTB18 (T287A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3333864	NM_205768.3(ZBTB18):c.1079T>C (p.Met360Thr)	ZBTB18 (M360T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3333863	NM_205768.3(ZBTB18):c.639C>G (p.His213Gln)	ZBTB18 (H204Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333862	NM_205768.3(ZBTB18):c.830A>G (p.Asn277Ser)	ZBTB18 (N268S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3333861	NM_205768.3(ZBTB18):c.634C>A (p.Pro212Thr)	ZBTB18 (P212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333860	NM_205768.3(ZBTB18):c.616G>A (p.Ala206Thr)	ZBTB18 (A197T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333859	NM_205768.3(ZBTB18):c.1425C>T (p.His475=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3333858	NM_205768.3(ZBTB18):c.602C>T (p.Ala201Val)	ZBTB18 (A201V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3254938	NM_205768.3(ZBTB18):c.562G>T (p.Glu188Ter)	ZBTB18 (E179* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 3253500	NM_205768.3(ZBTB18):c.1445G>A (p.Arg482His)	ZBTB18 (R473H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250442	NM_205768.3(ZBTB18):c.1454C>T (p.Thr485Met)	ZBTB18 (T476M +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 3248037	NC_000001.10:g.(?_243668551)_(244218672_?)dup	AKT3, ZBTB18	Duplication	not provided	GUncertain significance
Select item 3248036	NC_000001.10:g.(?_241661128)_(245027609_?)del	ADSS2, AKT3 +16 more	Deletion	not provided	GUncertain significance
Select item 3247849	NC_000001.10:g.(?_243668551)_(245027609_?)del	ADSS2, AKT3 +6 more	Deletion	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 3247844	NC_000001.10:g.(?_241661128)_(245027609_?)dup	ADSS2, AKT3 +16 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3242282	GRCh37/hg19 1q43-44(chr1:243364757-245372332)x1	ADSS2, AKT3 +10 more	Copy number loss	not provided	GPathogenic
Select item 3239557	NM_205768.3(ZBTB18):c.1543C>T (p.Pro515Ser)	ZBTB18 (P506S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236660	NM_205768.3(ZBTB18):c.1466A>T (p.Asp489Val)	ZBTB18 (D480V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 3191932	NM_205768.3(ZBTB18):c.880G>A (p.Val294Ile)	ZBTB18 (V294I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191931	NM_205768.3(ZBTB18):c.817G>A (p.Val273Met)	ZBTB18 (V273M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3191930	NM_205768.3(ZBTB18):c.1140G>T (p.Met380Ile)	ZBTB18 (M371I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063488	GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1	ADSS2, AKT3 +9 more	Copy number loss	not specified	GPathogenic
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3026495	NM_205768.3(ZBTB18):c.1298C>A (p.Thr433Asn)	ZBTB18 (T424N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025716	NM_205768.3(ZBTB18):c.166A>G (p.Met56Val)	ZBTB18 (M47V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007409	NM_205768.3(ZBTB18):c.1058G>A (p.Arg353His)	ZBTB18 (R353H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2979373	NM_205768.3(ZBTB18):c.1221C>T (p.Gly407=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2917239	NM_205768.3(ZBTB18):c.832C>G (p.Leu278Val)	ZBTB18 (L269V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2911651	NM_205768.3(ZBTB18):c.1305G>A (p.Lys435=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2907809	NM_205768.3(ZBTB18):c.1010G>A (p.Arg337Gln)	ZBTB18 (R337Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2905129	NM_205768.3(ZBTB18):c.1250A>G (p.Asn417Ser)	ZBTB18 (N408S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2903225	NM_205768.3(ZBTB18):c.1440C>T (p.Cys480=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898219	NM_205768.3(ZBTB18):c.1474A>C (p.Arg492=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894926	NM_205768.3(ZBTB18):c.1275G>A (p.Gly425=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893753	NM_205768.3(ZBTB18):c.462C>T (p.Ser154=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890619	NM_205768.3(ZBTB18):c.396G>A (p.Thr132=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888450	NM_205768.3(ZBTB18):c.486C>T (p.Gly162=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886723	NM_205768.3(ZBTB18):c.616G>C (p.Ala206Pro)	ZBTB18 (A206P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2881889	NM_205768.3(ZBTB18):c.1392C>T (p.Arg464=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880912	NM_205768.3(ZBTB18):c.1240G>A (p.Ala414Thr)	ZBTB18 (A405T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2871631	NM_205768.3(ZBTB18):c.834G>A (p.Leu278=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869588	NM_205768.3(ZBTB18):c.1085G>A (p.Ser362Asn)	ZBTB18 (S353N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2867443	NM_205768.3(ZBTB18):c.253G>A (p.Ala85Thr)	ZBTB18 (A85T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855630	NM_205768.3(ZBTB18):c.1083G>C (p.Glu361Asp)	ZBTB18 (E352D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2853043	NM_205768.3(ZBTB18):c.1094T>C (p.Leu365Pro)	ZBTB18 (L356P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2832535	NM_205768.3(ZBTB18):c.387A>G (p.Lys129=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826241	NM_205768.3(ZBTB18):c.407G>A (p.Ser136Asn)	ZBTB18 (S127N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815264	NM_205768.3(ZBTB18):c.1312G>A (p.Glu438Lys)	ZBTB18 (E429K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2793518	NM_205768.3(ZBTB18):c.102C>G (p.Asp34Glu)	ZBTB18 (D25E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791152	NM_205768.3(ZBTB18):c.1464G>T (p.Gly488=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787047	NM_205768.3(ZBTB18):c.1239C>T (p.Ala413=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784102	NM_205768.3(ZBTB18):c.715G>A (p.Val239Met)	ZBTB18 (V239M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2782724	NM_205768.3(ZBTB18):c.1046C>T (p.Pro349Leu)	ZBTB18 (P340L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782431	NM_205768.3(ZBTB18):c.309T>C (p.Ile103=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776762	NM_205768.3(ZBTB18):c.1017C>T (p.Asp339=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776352	NM_205768.3(ZBTB18):c.1045C>T (p.Pro349Ser)	ZBTB18 (P349S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2771053	NM_205768.3(ZBTB18):c.217C>G (p.His73Asp)	ZBTB18 (H64D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755354	NM_205768.3(ZBTB18):c.1209C>T (p.Arg403=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2754946	NM_205768.3(ZBTB18):c.985_1002dup (p.Glu334_Leu335insAspSerValLeuArgGlu)	ZBTB18	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2744125	NM_205768.3(ZBTB18):c.1012del (p.Glu338fs)	ZBTB18 (E338fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2737995	NM_205768.3(ZBTB18):c.605G>A (p.Gly202Asp)	ZBTB18 (G193D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2726547	NM_205768.3(ZBTB18):c.621C>T (p.Gly207=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717671	NM_205768.3(ZBTB18):c.914C>G (p.Thr305Ser)	ZBTB18 (T296S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2716612	NM_205768.3(ZBTB18):c.586T>C (p.Leu196=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715892	NM_205768.3(ZBTB18):c.463G>A (p.Asp155Asn)	ZBTB18 (D146N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2685842	GRCh37/hg19 1q43-44(chr1:243581091-244582134)x3	ADSS2, AKT3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2664043	NM_205768.3(ZBTB18):c.343A>G (p.Met115Val)	ZBTB18 (M106V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 2640221	NM_205768.3(ZBTB18):c.1518G>A (p.Ser506=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640220	NM_205768.3(ZBTB18):c.1326G>C (p.Ser442=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640219	NM_205768.3(ZBTB18):c.1126G>A (p.Gly376Ser)	ZBTB18 (G367S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640218	NM_205768.3(ZBTB18):c.906A>G (p.Glu302=)	ZBTB18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640217	NM_205768.3(ZBTB18):c.629C>G (p.Ala210Gly)	ZBTB18 (A201G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640216	NM_205768.3(ZBTB18):c.75G>A (p.Glu25=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636748	NM_205768.3(ZBTB18):c.1052G>C (p.Ser351Thr)	ZBTB18 (S342T +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB18-related disorder	GUncertain significance
Select item 2636305	NM_205768.3(ZBTB18):c.1450T>C (p.Phe484Leu)	ZBTB18 (F475L +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB18-related disorder	GUncertain significance
Select item 2635947	NM_205768.3(ZBTB18):c.440C>G (p.Ser147Trp)	ZBTB18 (S138W +1 more)	Single nucleotide variant (missense variant)	ZBTB18-related disorder	GUncertain significance
Select item 2633678	NM_205768.3(ZBTB18):c.467G>T (p.Gly156Val)	ZBTB18 (G147V +1 more)	Single nucleotide variant (missense variant)	ZBTB18-related disorder	GUncertain significance
Select item 2631480	NM_205768.3(ZBTB18):c.395C>T (p.Thr132Met)	ZBTB18 (T123M +1 more)	Single nucleotide variant (missense variant)	ZBTB18-related disorder	GUncertain significance
Select item 2630943	NM_205768.3(ZBTB18):c.734T>C (p.Val245Ala)	ZBTB18 (V236A +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB18-related disorder	GUncertain significance
Select item 2627035	NM_205768.3(ZBTB18):c.1009C>T (p.Arg337Trp)	ZBTB18 (R328W +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 22 +1 more	GUncertain significance
Select item 2584360	NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)	ZBTB18 (H466D +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	LOC126806079, LOC126806080 +119 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2581908	NM_205768.3(ZBTB18):c.1286C>T (p.Ser429Phe)	ZBTB18 (S420F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579910	NM_205768.3(ZBTB18):c.31G>C (p.Glu11Gln)	ZBTB18 (E11Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579278	GRCh38/hg38 1q44(chr1:244051186-244055631)x1	ZBTB18	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579277	GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1	ADSS2, AKT3 +73 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2578606	NM_205768.3(ZBTB18):c.990G>A (p.Ser330=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575946	NM_205768.3(ZBTB18):c.1361A>G (p.Lys454Arg)	ZBTB18 (K445R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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