ZBTB20[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 144858	GRCh38/hg38 3q13.31(chr3:114298318-116366433)x1	GAP43, LOC108004532 +39 more	Copy number loss	See cases	GUncertain significance
Select item 1336000	NM_001348800.3(ZBTB20):c.*6A>G	ZBTB20	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 264660	NM_001348800.3(ZBTB20):c.2221G>A (p.Gly741Arg)	ZBTB20 (G741R +1 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 747129	NM_001348800.3(ZBTB20):c.2199C>T (p.His733=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	Primrose syndrome +1 more	GBenign/Likely benign
Select item 1988250	NM_001348800.3(ZBTB20):c.2192A>G (p.Asn731Ser)	ZBTB20 (N658S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800200	NM_001348800.3(ZBTB20):c.2182G>A (p.Glu728Lys)	ZBTB20 (E728K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001136	NM_001348800.3(ZBTB20):c.2167A>G (p.Lys723Glu)	ZBTB20 (K723E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991538	NM_001348800.3(ZBTB20):c.2155G>A (p.Val719Ile)	ZBTB20 (V719I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3030769	NM_001348800.3(ZBTB20):c.2154C>G (p.Ser718=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	ZBTB20-related disorder	GLikely benign
Select item 2185194	NM_001348800.3(ZBTB20):c.2154C>T (p.Ser718=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023187	NM_001348800.3(ZBTB20):c.2136G>A (p.Gly712=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956518	NM_001348800.3(ZBTB20):c.2129C>T (p.Thr710Met)	ZBTB20 (T710M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969977	NM_001348800.3(ZBTB20):c.2118G>C (p.Val706=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779347	NM_001348800.3(ZBTB20):c.2116G>A (p.Val706Met)	ZBTB20 (V706M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701622	NM_001348800.3(ZBTB20):c.2114G>T (p.Gly705Val)	ZBTB20 (G632V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2128167	NM_001348800.3(ZBTB20):c.2111C>T (p.Pro704Leu)	ZBTB20 (P631L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418306	NM_001348800.3(ZBTB20):c.2099G>A (p.Arg700His)	ZBTB20 (R627H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712057	NM_001348800.3(ZBTB20):c.2099G>C (p.Arg700Pro)	ZBTB20 (R627P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902090	NM_001348800.3(ZBTB20):c.2098C>T (p.Arg700Cys)	ZBTB20 (R700C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183254	NM_001348800.3(ZBTB20):c.2094T>G (p.Gly698=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2438640	NM_001348800.3(ZBTB20):c.2090C>T (p.Pro697Leu)	ZBTB20 (P624L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2858701	NM_001348800.3(ZBTB20):c.2080G>A (p.Gly694Ser)	ZBTB20 (G694S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 724726	NM_001348800.3(ZBTB20):c.2078C>T (p.Ala693Val)	ZBTB20 (A693V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1030239	NM_001348800.3(ZBTB20):c.2075dup (p.Ala693fs)	ZBTB20 (A693fs +1 more)	Duplication (frameshift variant +1 more)	Primrose syndrome	GUncertain significance
Select item 3018914	NM_001348800.3(ZBTB20):c.2073C>T (p.Pro691=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714947	NM_001348800.3(ZBTB20):c.2070C>A (p.Thr690=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2654055	NM_001348800.3(ZBTB20):c.2068A>C (p.Thr690Pro)	ZBTB20 (T617P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3191938	NM_001348800.3(ZBTB20):c.2065G>C (p.Gly689Arg)	ZBTB20 (G616R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2866026	NM_001348800.3(ZBTB20):c.2041G>T (p.Val681Leu)	ZBTB20 (V681L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2004375	NM_001348800.3(ZBTB20):c.2028C>T (p.Leu676=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1604470	NM_001348800.3(ZBTB20):c.2028C>A (p.Leu676=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2921295	NM_001348800.3(ZBTB20):c.1967A>G (p.His656Arg)	ZBTB20 (H656R +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 744696	NM_001348800.3(ZBTB20):c.1962C>T (p.Arg654=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 638659	NM_001348800.3(ZBTB20):c.1955A>G (p.His652Arg)	ZBTB20 (H652R +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 585297	NM_001348800.3(ZBTB20):c.1955A>T (p.His652Leu)	ZBTB20 (H652L +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormal facial shape +4 more	GLikely pathogenic
Select item 2045115	NM_001348800.3(ZBTB20):c.1950C>T (p.Asn650=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 986899	NM_001348800.3(ZBTB20):c.1949A>T (p.Asn650Ile)	ZBTB20 (N577I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2580194	NM_001348800.3(ZBTB20):c.1948A>C (p.Asn650His)	ZBTB20 (N577H +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 638662	NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg)	ZBTB20 (S647R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 2779082	NM_001348800.3(ZBTB20):c.1935G>A (p.Gln645=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2443884	NM_001348800.3(ZBTB20):c.1931C>T (p.Thr644Ile)	ZBTB20 (T644I +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GUncertain significance
Select item 2036496	NM_001348800.3(ZBTB20):c.1929C>T (p.Phe643=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1691860	NM_001348800.3(ZBTB20):c.1916G>T (p.Cys639Phe)	ZBTB20 (C566F +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 929421	NM_001348800.3(ZBTB20):c.1916G>A (p.Cys639Tyr)	ZBTB20 (C566Y +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 3032096	NM_001348800.3(ZBTB20):c.1915T>C (p.Cys639Arg)	ZBTB20 (C566R +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB20-related disorder	GLikely pathogenic
Select item 799695	NM_001348800.3(ZBTB20):c.1911T>C (p.Ser637=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2442541	NM_001348800.3(ZBTB20):c.1906T>C (p.Cys636Arg)	ZBTB20 (C563R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3337752	NM_001348800.3(ZBTB20):c.1904A>G (p.Gln635Arg)	ZBTB20 (Q562R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3377072	NM_001348800.3(ZBTB20):c.1897G>A (p.Ala633Thr)	ZBTB20 (A560T +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 522009	NM_001348800.3(ZBTB20):c.1885A>G (p.Thr629Ala)	ZBTB20 (T629A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1067339	NM_001348800.3(ZBTB20):c.1882C>A (p.His628Asn)	ZBTB20 (H555N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2883999	NM_001348800.3(ZBTB20):c.1879A>G (p.Thr627Ala)	ZBTB20 (T554A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 139450	NM_001348800.3(ZBTB20):c.1876G>A (p.Val626Met)	ZBTB20 (V626M +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 421824	NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val)	ZBTB20 (M625V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2713237	NM_001348800.3(ZBTB20):c.1872C>T (p.His624=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1712633	NM_001348800.3(ZBTB20):c.1871A>C (p.His624Pro)	ZBTB20 (H551P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 520946	NM_001348800.3(ZBTB20):c.1869G>C (p.Lys623Asn)	ZBTB20 (K623N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2186258	NM_001348800.3(ZBTB20):c.1866C>A (p.Ile622=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2627841	NM_001348800.3(ZBTB20):c.1862T>G (p.Leu621Arg)	ZBTB20 (L548R +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 638663	NM_001348800.3(ZBTB20):c.1862T>C (p.Leu621Pro)	ZBTB20 (L621P +1 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 139449	NM_001348800.3(ZBTB20):c.1861C>T (p.Leu621Phe)	ZBTB20 (L621F +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 2024704	NM_001348800.3(ZBTB20):c.1860C>G (p.Tyr620Ter)	ZBTB20 (Y547* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2023798	NM_001348800.3(ZBTB20):c.1852A>G (p.Lys618Glu)	ZBTB20 (K618E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2830029	NM_001348800.3(ZBTB20):c.1851A>G (p.Leu617=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 264659	NM_001348800.3(ZBTB20):c.1847C>T (p.Ser616Phe)	ZBTB20 (S616F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 253111	NM_001164342.2(ZBTB20):c.[1847C>T;2221G>A]	ZBTB20 (S616F +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GPathogenic
Select item 2627830	NM_001348800.3(ZBTB20):c.1845C>A (p.Phe615Leu)	ZBTB20 (F542L +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2441791	NM_001348800.3(ZBTB20):c.1845C>G (p.Phe615Leu)	ZBTB20 (F542L +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GUncertain significance
Select item 998787	NM_001348800.3(ZBTB20):c.1844T>C (p.Phe615Ser)	ZBTB20 (F542S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1709274	NM_001348800.3(ZBTB20):c.1838G>T (p.Arg613Leu)	ZBTB20 (R540L +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 638658	NM_001348800.3(ZBTB20):c.1837C>T (p.Arg613Cys)	ZBTB20 (R613C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1679137	NM_001348800.3(ZBTB20):c.1835G>A (p.Trp612Ter)	ZBTB20 (W539* +1 more)	Single nucleotide variant (nonsense +1 more)	Primrose syndrome	GUncertain significance
Select item 2578946	NM_001348800.3(ZBTB20):c.1832G>A (p.Cys611Tyr)	ZBTB20 (C538Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2126639	NM_001348800.3(ZBTB20):c.1823G>A (p.Cys608Tyr)	ZBTB20 (C535Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 626309	NM_001348800.3(ZBTB20):c.1822T>C (p.Cys608Arg)	ZBTB20 (C608R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1686308	NM_001348800.3(ZBTB20):c.1817A>G (p.His606Arg)	ZBTB20 (H533R +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 638660	NM_001348800.3(ZBTB20):c.1817A>C (p.His606Pro)	ZBTB20 (H606P +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome +1 more	GPathogenic
Select item 809522	NM_001348800.3(ZBTB20):c.1813C>T (p.Pro605Ser)	ZBTB20 (P532S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 139448	NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr)	ZBTB20 (K604T +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3385379	NM_001348800.3(ZBTB20):c.1805G>T (p.Gly602Val)	ZBTB20 (G529V +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 684507	NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp)	ZBTB20 (G529D +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GUncertain significance
Select item 139447	NM_001348800.3(ZBTB20):c.1805G>C (p.Gly602Ala)	ZBTB20 (G602A +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 1312263	NM_001348800.3(ZBTB20):c.1805-4A>G	ZBTB20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1600970	NM_001348800.3(ZBTB20):c.1805-20G>T	ZBTB20	Single nucleotide variant (intron variant)	not provided	GBenign

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