ZBTB18[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579278	GRCh38/hg38 1q44(chr1:244051186-244055631)x1	ZBTB18	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2321278	NM_205768.3(ZBTB18):c.10A>G (p.Lys4Glu)	ZBTB18 (K4E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2048767	NM_205768.3(ZBTB18):c.13+13A>G	ZBTB18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741591	NM_205768.3(ZBTB18):c.27T>C (p.Ser9=)	ZBTB18	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 2429450	NM_205768.3(ZBTB18):c.32A>T (p.Glu11Val)	ZBTB18 (E11V +1 more)	Single nucleotide variant (missense variant)	Developmental delay	GLikely pathogenic
Select item 2428827	NM_205768.3(ZBTB18):c.65G>A (p.Cys22Tyr)	ZBTB18 (C13Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181257	NM_205768.3(ZBTB18):c.72C>T (p.Ser24=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640216	NM_205768.3(ZBTB18):c.75G>A (p.Glu25=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2431741	NM_205768.3(ZBTB18):c.80G>C (p.Arg27Thr)	ZBTB18 (R18T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
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 1809925	NM_205768.3(ZBTB18):c.104G>A (p.Cys35Tyr)	ZBTB18 (C26Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225923	NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter)	ZBTB18 (R45* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22 +1 more	GPathogenic
Select item 1311575	NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly)	ZBTB18 (R39G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 431091	NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter)	ZBTB18 (R48* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 728140	NM_205768.3(ZBTB18):c.159A>G (p.Ser53=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224125	NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)	ZBTB18 (C54R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 2286857	NM_205768.3(ZBTB18):c.170A>T (p.Tyr57Phe)	ZBTB18 (Y57F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 620412	NM_205768.3(ZBTB18):c.171T>A (p.Tyr57Ter)	ZBTB18 (Y57* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1703227	NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs)	ZBTB18 (D61fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 2438638	NM_205768.3(ZBTB18):c.208G>A (p.Asp70Asn)	ZBTB18 (D61N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	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 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 988750	NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)	ZBTB18	Duplication (inframe_insertion +1 more)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 988568	NM_205768.3(ZBTB18):c.246dup (p.Ala83fs)	ZBTB18 (A74fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2124850	NM_205768.3(ZBTB18):c.246C>T (p.Pro82=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722814	NM_205768.3(ZBTB18):c.252C>T (p.Phe84=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1313296	NM_205768.3(ZBTB18):c.263T>C (p.Leu88Pro)	ZBTB18 (L79P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331622	NM_205768.3(ZBTB18):c.299A>G (p.Asp100Gly)	ZBTB18 (D100G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412699	NM_205768.3(ZBTB18):c.306del (p.Ile103fs)	ZBTB18 (I103fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 2094617	NM_205768.3(ZBTB18):c.306C>T (p.Pro102=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2461543	NM_205768.3(ZBTB18):c.307A>G (p.Ile103Val)	ZBTB18 (I103V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377090	NM_205768.3(ZBTB18):c.307A>T (p.Ile103Phe)	ZBTB18 (I103F +1 more)	Single nucleotide variant (missense variant)	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 727702	NM_205768.3(ZBTB18):c.315C>T (p.Asp105=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698212	NM_205768.3(ZBTB18):c.335A>G (p.Tyr112Cys)	ZBTB18 (Y103C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788722	NM_205768.3(ZBTB18):c.339C>T (p.Leu113=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 986209	NM_205768.3(ZBTB18):c.352A>G (p.Ile118Val)	ZBTB18 (I109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1993076	NM_205768.3(ZBTB18):c.362T>G (p.Val121Gly)	ZBTB18 (V121G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1973703	NM_205768.3(ZBTB18):c.372G>C (p.Lys124Asn)	ZBTB18 (K124N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832535	NM_205768.3(ZBTB18):c.387A>G (p.Lys129=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2890619	NM_205768.3(ZBTB18):c.396G>A (p.Thr132=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 88856	NM_205768.3(ZBTB18):c.397G>T (p.Glu133Ter)	ZBTB18 (E133* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2045837	NM_205768.3(ZBTB18):c.406A>G (p.Ser136Gly)	ZBTB18 (S136G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2556742	NM_205768.3(ZBTB18):c.410C>T (p.Thr137Ile)	ZBTB18 (T128I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504841	NM_205768.3(ZBTB18):c.421G>A (p.Glu141Lys)	ZBTB18 (E132K +1 more)	Single nucleotide variant (missense variant)	not provided	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 1805570	NM_205768.3(ZBTB18):c.446A>G (p.Lys149Arg)	ZBTB18 (K140R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GUncertain significance
Select item 2893753	NM_205768.3(ZBTB18):c.462C>T (p.Ser154=)	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 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 2310289	NM_205768.3(ZBTB18):c.478A>G (p.Ile160Val)	ZBTB18 (I160V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2888450	NM_205768.3(ZBTB18):c.486C>T (p.Gly162=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180896	NM_205768.3(ZBTB18):c.528G>A (p.Leu176=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319911	NM_205768.3(ZBTB18):c.550del (p.Asp184fs)	ZBTB18 (D175fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 1931045	NM_205768.3(ZBTB18):c.557C>T (p.Ala186Val)	ZBTB18 (A177V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1973655	NM_205768.3(ZBTB18):c.558G>A (p.Ala186=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1308780	NM_205768.3(ZBTB18):c.559G>A (p.Ala187Thr)	ZBTB18 (A178T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751876	NM_205768.3(ZBTB18):c.561C>T (p.Ala187=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	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 2108573	NM_205768.3(ZBTB18):c.562G>A (p.Glu188Lys)	ZBTB18 (E179K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333608	NM_205768.3(ZBTB18):c.579G>A (p.Trp193Ter)	ZBTB18 (W184* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 417741	NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter)	ZBTB18 (R186* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2716612	NM_205768.3(ZBTB18):c.586T>C (p.Leu196=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 397517	NM_205768.3(ZBTB18):c.599del (p.Asp199_Ser200insTer)	ZBTB18	Deletion (nonsense +1 more)	Intellectual disability, autosomal dominant 22	GPathogenic
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 2737995	NM_205768.3(ZBTB18):c.605G>A (p.Gly202Asp)	ZBTB18 (G193D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 1976538	NM_205768.3(ZBTB18):c.620G>A (p.Gly207Asp)	ZBTB18 (G198D +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 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 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 2147112	NM_205768.3(ZBTB18):c.638A>G (p.His213Arg)	ZBTB18 (H204R +1 more)	Single nucleotide variant (missense variant)	not provided	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 2088055	NM_205768.3(ZBTB18):c.640G>A (p.Ala214Thr)	ZBTB18 (A214T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009978	NM_205768.3(ZBTB18):c.640_641delinsCT (p.Ala214Leu)	ZBTB18 (A214L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 988428	NM_205768.3(ZBTB18):c.658dup (p.Thr220fs)	ZBTB18 (T211fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2334844	NM_205768.3(ZBTB18):c.664G>C (p.Ala222Pro)	ZBTB18 (A222P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 806414	NM_205768.3(ZBTB18):c.669C>T (p.Ser223=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2412700	NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs)	ZBTB18 (E220fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 1802618	NM_205768.3(ZBTB18):c.691_692del (p.Leu231fs)	ZBTB18 (L222fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 1335024	NM_205768.3(ZBTB18):c.709A>C (p.Thr237Pro)	ZBTB18 (T228P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059833	NM_205768.3(ZBTB18):c.714C>T (p.Ser238=)	ZBTB18	Single nucleotide variant (synonymous variant)	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 2183124	NM_205768.3(ZBTB18):c.726G>A (p.Ser242=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 992626	NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs)	ZBTB18 (S243fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 1710007	NM_205768.3(ZBTB18):c.764_765dup (p.Ser256fs)	ZBTB18 (S247fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 1711984	NM_205768.3(ZBTB18):c.773C>T (p.Ser258Leu)	ZBTB18 (S249L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985947	NM_205768.3(ZBTB18):c.794G>A (p.Ser265Asn)	ZBTB18 (S256N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 419173	NM_205768.3(ZBTB18):c.799dup (p.Tyr267fs)	ZBTB18 (Y267fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 424193	NM_205768.3(ZBTB18):c.800dup (p.Tyr267Ter)	ZBTB18 (Y258* +1 more)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 1704714	NM_205768.3(ZBTB18):c.806C>T (p.Ser269Phe)	ZBTB18 (S260F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914545	NM_205768.3(ZBTB18):c.816C>T (p.Asp272=)	ZBTB18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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