ClinVar for Gene (Select 140685) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333966	NM_001369741.1(ZBTB46):c.436A>G (p.Ile146Val)	ZBTB46 (I146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333965	NM_001369741.1(ZBTB46):c.44G>A (p.Arg15Gln)	ZBTB46 (R15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333964	NM_001369741.1(ZBTB46):c.1451T>C (p.Met484Thr)	ZBTB46 (M484T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333963	NM_001369741.1(ZBTB46):c.518G>A (p.Arg173Gln)	ZBTB46 (R173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333962	NM_001369741.1(ZBTB46):c.81C>A (p.His27Gln)	ZBTB46 (H27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248317	NC_000020.10:g.(?_61990880)_(62680869_?)del	ABHD16B, ARFRP1 +23 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 3248232	NC_000020.10:g.(?_61978090)_(62562921_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy +3 more	GUncertain significance
Select item 3248230	NC_000020.10:g.(?_61978090)_(62562921_?)del	ABHD16B, ARFRP1 +18 more	Deletion	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3192132	NM_001369741.1(ZBTB46):c.997C>T (p.Leu333Phe)	ZBTB46 (L333F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192131	NM_001369741.1(ZBTB46):c.973G>C (p.Asp325His)	ZBTB46 (D325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192129	NM_001369741.1(ZBTB46):c.577G>A (p.Gly193Arg)	ZBTB46 (G193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192128	NM_001369741.1(ZBTB46):c.544G>A (p.Gly182Arg)	ZBTB46 (G182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192127	NM_001369741.1(ZBTB46):c.473T>C (p.Ile158Thr)	ZBTB46 (I158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192126	NM_001369741.1(ZBTB46):c.1618G>T (p.Asp540Tyr)	ZBTB46 (D540Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192125	NM_001369741.1(ZBTB46):c.1595G>A (p.Gly532Glu)	ZBTB46 (G532E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192124	NM_001369741.1(ZBTB46):c.1561G>A (p.Glu521Lys)	ZBTB46 (E521K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192122	NM_001369741.1(ZBTB46):c.1549G>A (p.Gly517Ser)	ZBTB46 (G517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192121	NM_001369741.1(ZBTB46):c.1487G>A (p.Arg496Lys)	ZBTB46 (R496K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062407	GRCh37/hg19 20q13.33(chr20:61716119-62416074)x1	ARFGAP1, ARFRP1 +22 more	Copy number loss	not specified	GPathogenic
Select item 3025020	NM_001369741.1(ZBTB46):c.1531G>A (p.Gly511Arg)	ZBTB46 (G511R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2603502	NM_001369741.1(ZBTB46):c.1060A>C (p.Thr354Pro)	ZBTB46 (T354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597192	NM_001369741.1(ZBTB46):c.941C>T (p.Ala314Val)	ZBTB46 (A314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588856	NM_001369741.1(ZBTB46):c.1718G>A (p.Arg573Gln)	ZBTB46 (R573Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588192	NM_001369741.1(ZBTB46):c.994G>A (p.Glu332Lys)	ZBTB46 (E332K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2556668	NM_001369741.1(ZBTB46):c.1439G>C (p.Ser480Thr)	ZBTB46 (S480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534762	NM_001369741.1(ZBTB46):c.204G>C (p.Glu68Asp)	ZBTB46 (E68D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534761	NM_001369741.1(ZBTB46):c.196A>C (p.Thr66Pro)	ZBTB46 (T66P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525605	NM_001369741.1(ZBTB46):c.1625G>A (p.Arg542Gln)	ZBTB46 (R542Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524100	NM_001369741.1(ZBTB46):c.1520G>A (p.Arg507His)	ZBTB46 (R507H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488140	NM_001369741.1(ZBTB46):c.961G>T (p.Ala321Ser)	ZBTB46 (A321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479762	NM_001369741.1(ZBTB46):c.908C>T (p.Ser303Leu)	ZBTB46 (S303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472875	NM_001369741.1(ZBTB46):c.884C>T (p.Pro295Leu)	ZBTB46 (P295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463614	NM_001369741.1(ZBTB46):c.1762C>T (p.Leu588Phe)	ZBTB46 (L588F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457242	NM_001369741.1(ZBTB46):c.1507G>A (p.Asp503Asn)	ZBTB46 (D503N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	ABHD16B, ADRM1 +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2407886	NM_001369741.1(ZBTB46):c.1733C>T (p.Pro578Leu)	ZBTB46 (P578L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405188	NM_001369741.1(ZBTB46):c.626A>G (p.Asp209Gly)	ZBTB46 (D209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393209	NM_001369741.1(ZBTB46):c.1015G>A (p.Glu339Lys)	ZBTB46 (E339K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382192	NM_001369741.1(ZBTB46):c.1522G>A (p.Gly508Ser)	ZBTB46 (G508S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353009	NM_001369741.1(ZBTB46):c.1036G>A (p.Ala346Thr)	ZBTB46 (A346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331865	NM_001369741.1(ZBTB46):c.1558G>A (p.Gly520Ser)	ZBTB46 (G520S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312582	NM_001369741.1(ZBTB46):c.1100T>G (p.Val367Gly)	ZBTB46 (V367G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283652	NM_001369741.1(ZBTB46):c.1096G>T (p.Ala366Ser)	ZBTB46 (A366S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249985	NM_001369741.1(ZBTB46):c.1234A>G (p.Thr412Ala)	ZBTB46 (T412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247040	NM_001369741.1(ZBTB46):c.803G>T (p.Gly268Val)	ZBTB46 (G268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211510	NM_001369741.1(ZBTB46):c.851A>G (p.Gln284Arg)	ZBTB46 (Q284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209476	NM_001369741.1(ZBTB46):c.85G>A (p.Val29Ile)	ZBTB46 (V29I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206421	NM_001369741.1(ZBTB46):c.871C>T (p.Arg291Trp)	ZBTB46 (R291W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	HELZ2, DIDO1 +51 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	PCMTD2, SAMD10 +47 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	NKAIN4, COL20A1 +44 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1326329	GRCh37/hg19 20q13.33(chr20:61826780-62660844)	UCKL1, ZGPAT +27 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	MRGBP, NKAIN4 +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 979738	GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	ARFRP1, DNAJC5 +30 more	Copy number loss	not provided	GPathogenic
Select item 833250	NC_000020.10:g.(?_61977556)_(62562941_?)dup	HELZ2, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 830535	NC_000020.10:g.(?_61977556)_(62562941_?)del	SRMS, STMN3 +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 689670	NM_001369741.1(ZBTB46):c.1421A>G (p.Tyr474Cys)	ZBTB46 (Y474C)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 564637	GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	SOX18, GMEB2 +29 more	Copy number loss	not provided	GPathogenic
Select item 564634	GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	PCMTD2, ZGPAT +29 more	Copy number loss	not provided	GPathogenic
Select item 564620	GRCh37/hg19 20q13.33(chr20:62141508-62405797)x3	ARFRP1, GMEB2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 503592	GRCh37/hg19 20q13.33(chr20:61974480-62473704)x3	FNDC11, GMEB2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442909	GRCh37/hg19 20q13.33(chr20:61602977-62450998)x3	ARFGAP1, ARFRP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442701	GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	ABHD16B, ARFGAP1 +33 more	Copy number loss	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ARFGAP1, ARFRP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 375482	NM_001369741.1(ZBTB46):c.489T>C (p.Ala163=)	ZBTB46	Single nucleotide variant (synonymous variant)	Chronic osteomyelitis	Gassociation
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	See cases	GPathogenic

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