"GeneDx"[submitter] AND "ZBTB18"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
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 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 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 620412	NM_205768.3(ZBTB18):c.171T>A (p.Tyr57Ter)	ZBTB18 (Y57* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 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 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 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 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 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 225922	NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs)	ZBTB18 (R306fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1027957	NM_205768.3(ZBTB18):c.1054G>A (p.Glu352Lys)	ZBTB18 (E352K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 1308423	NM_205768.3(ZBTB18):c.1138A>G (p.Met380Val)	ZBTB18 (M371V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225892	NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter)	ZBTB18 (Q395* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2574213	NM_205768.3(ZBTB18):c.1232A>G (p.Lys411Arg)	ZBTB18 (K402R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500516	NM_205768.3(ZBTB18):c.1235C>T (p.Pro412Leu)	ZBTB18 (P403L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 976114	NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)	ZBTB18 (R427H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GConflicting classifications of pathogenicity
Select item 504179	NM_205768.3(ZBTB18):c.1342dup (p.Thr448fs)	ZBTB18 (T439fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 817434	NM_205768.3(ZBTB18):c.1350_1351del (p.Gln451fs)	ZBTB18 (Q442fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1708705	NM_205768.3(ZBTB18):c.1372T>C (p.Tyr458His)	ZBTB18 (Y449H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032618	NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr)	ZBTB18 (H451Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22 +1 more	GPathogenic/Likely pathogenic
Select item 208690	NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser)	ZBTB18 (N461S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 440857	NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys)	ZBTB18 (R464C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1315091	NM_205768.3(ZBTB18):c.1412G>T (p.Arg471Leu)	ZBTB18 (R462L +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 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 2502541	NM_205768.3(ZBTB18):c.1448G>C (p.Arg483Thr)	ZBTB18 (R474T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985432	NM_205768.3(ZBTB18):c.1462G>A (p.Gly488Arg)	ZBTB18 (G479R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421626	NM_205768.3(ZBTB18):c.1474A>G (p.Arg492Gly)	ZBTB18 (R492G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1194984	NM_205768.3(ZBTB18):c.1483C>T (p.Arg495Cys)	ZBTB18 (R486C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 253915	GRCh37/hg19 1q44(chr1:244138107-244509450)x3	ZBTB18	Copy number gain	See cases	GUncertain significance
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253578	GRCh37/hg19 1q43-44(chr1:242357208-246378823)x1	ADSS2, AKT3 +12 more	Copy number loss	See cases	GPathogenic
Select item 253547	GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1	OR2L2, OR2L8 +66 more	Copy number loss	See cases	GPathogenic
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

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Items: 44