ABHD16B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	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 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	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 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	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 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 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 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
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 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 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 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	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 57315	GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3	ABHD16B, C20orf181 +63 more	Copy number gain	See cases	GUncertain significance
Select item 2342635	NM_080622.4(ABHD16B):c.19G>A (p.Val7Met)	ABHD16B, LOC112268269 (V7M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3321250	NM_080622.4(ABHD16B):c.20T>G (p.Val7Gly)	ABHD16B, LOC112268269 (V7G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3321058	NM_080622.4(ABHD16B):c.68C>G (p.Thr23Ser)	ABHD16B, LOC112268269 (T23S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2309864	NM_080622.4(ABHD16B):c.112G>A (p.Val38Met)	ABHD16B, LOC112268269 (V38M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2218567	NM_080622.4(ABHD16B):c.125G>C (p.Gly42Ala)	ABHD16B, LOC112268269 (G42A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2454748	NM_080622.4(ABHD16B):c.136A>G (p.Ser46Gly)	ABHD16B, LOC112268269 (S46G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2596408	NM_080622.4(ABHD16B):c.142C>T (p.Arg48Trp)	ABHD16B, LOC112268269 (R48W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2262769	NM_080622.4(ABHD16B):c.143G>A (p.Arg48Gln)	ABHD16B, LOC112268269 (R48Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2261362	NM_080622.4(ABHD16B):c.158C>T (p.Ala53Val)	ABHD16B, LOC112268269 (A53V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2479568	NM_080622.4(ABHD16B):c.200T>C (p.Leu67Pro)	ABHD16B, LOC112268269 (L67P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130691	NM_080622.4(ABHD16B):c.205G>A (p.Gly69Arg)	ABHD16B, LOC112268269 (G69R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320728	NM_080622.4(ABHD16B):c.272G>A (p.Arg91His)	ABHD16B, LOC112268269 (R91H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2229707	NM_080622.4(ABHD16B):c.287A>C (p.Gln96Pro)	ABHD16B, LOC112268269 (Q96P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130697	NM_080622.4(ABHD16B):c.305T>C (p.Leu102Pro)	ABHD16B, LOC112268269 (L102P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2376569	NM_080622.4(ABHD16B):c.359C>T (p.Thr120Met)	ABHD16B, LOC112268269 (T120M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2600721	NM_080622.4(ABHD16B):c.361C>T (p.Arg121Cys)	ABHD16B, LOC112268269 (R121C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130702	NM_080622.4(ABHD16B):c.362G>A (p.Arg121His)	ABHD16B, LOC112268269 (R121H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2597843	NM_080622.4(ABHD16B):c.388G>A (p.Gly130Ser)	ABHD16B, LOC112268269 (G130S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130707	NM_080622.4(ABHD16B):c.397C>T (p.Arg133Cys)	ABHD16B, LOC112268269 (R133C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130713	NM_080622.4(ABHD16B):c.418G>A (p.Gly140Ser)	ABHD16B, LOC112268269 (G140S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2525381	NM_080622.4(ABHD16B):c.424C>G (p.Arg142Gly)	ABHD16B, LOC112268269 (R142G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2288254	NM_080622.4(ABHD16B):c.545G>T (p.Gly182Val)	ABHD16B, LOC112268269 (G182V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467208	NM_080622.4(ABHD16B):c.575C>T (p.Pro192Leu)	ABHD16B, LOC112268269 (P192L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2614342	NM_080622.4(ABHD16B):c.583G>A (p.Ala195Thr)	ABHD16B, LOC112268269 (A195T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320686	NM_080622.4(ABHD16B):c.610C>T (p.His204Tyr)	ABHD16B, LOC112268269 (H204Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130730	NM_080622.4(ABHD16B):c.621C>A (p.Phe207Leu)	ABHD16B, LOC112268269 (F207L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3321158	NM_080622.4(ABHD16B):c.649C>G (p.Gln217Glu)	ABHD16B, LOC112268269 (Q217E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519604	NM_080622.4(ABHD16B):c.654C>A (p.His218Gln)	ABHD16B, LOC112268269 (H218Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2344126	NM_080622.4(ABHD16B):c.696C>G (p.His232Gln)	ABHD16B, LOC112268269 (H232Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130740	NM_080622.4(ABHD16B):c.738G>C (p.Trp246Cys)	ABHD16B, LOC112268269 (W246C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320961	NM_080622.4(ABHD16B):c.758C>T (p.Ala253Val)	ABHD16B, LOC112268269 (A253V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2465598	NM_080622.4(ABHD16B):c.807C>G (p.Asp269Glu)	ABHD16B, LOC112268269 (D269E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320861	NM_080622.4(ABHD16B):c.877C>T (p.Arg293Cys)	ABHD16B, LOC112268269 (R293C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130746	NM_080622.4(ABHD16B):c.878G>A (p.Arg293His)	ABHD16B, LOC112268269 (R293H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2380241	NM_080622.4(ABHD16B):c.899A>G (p.Asn300Ser)	ABHD16B, LOC112268269 (N300S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130753	NM_080622.4(ABHD16B):c.940G>A (p.Val314Met)	ABHD16B, LOC112268269 (V314M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130755	NM_080622.4(ABHD16B):c.947T>G (p.Leu316Arg)	ABHD16B, LOC112268269 (L316R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2335420	NM_080622.4(ABHD16B):c.955C>A (p.Arg319Ser)	ABHD16B, LOC112268269 (R319S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2556574	NM_080622.4(ABHD16B):c.976A>G (p.Ser326Gly)	ABHD16B, LOC112268269 (S326G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320576	NM_080622.4(ABHD16B):c.983C>T (p.Ser328Leu)	ABHD16B, LOC112268269 (S328L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130764	NM_080622.4(ABHD16B):c.989G>T (p.Arg330Leu)	ABHD16B, LOC112268269 (R330L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2559349	NM_080622.4(ABHD16B):c.1025A>G (p.Asn342Ser)	ABHD16B, LOC112268269 (N342S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130628	NM_080622.4(ABHD16B):c.1049G>A (p.Arg350His)	ABHD16B, LOC112268269 (R350H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2262738	NM_080622.4(ABHD16B):c.1063C>A (p.Arg355Ser)	ABHD16B, LOC112268269 (R355S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2486315	NM_080622.4(ABHD16B):c.1102G>A (p.Val368Ile)	ABHD16B, LOC112268269 (V368I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2373551	NM_080622.4(ABHD16B):c.1162C>G (p.Arg388Gly)	ABHD16B, LOC112268269 (R388G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2607144	NM_080622.4(ABHD16B):c.1208C>A (p.Ala403Glu)	ABHD16B, LOC112268269 (A403E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130641	NM_080622.4(ABHD16B):c.1231G>A (p.Gly411Ser)	ABHD16B, LOC112268269 (G411S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2311211	NM_080622.4(ABHD16B):c.1255G>A (p.Gly419Arg)	ABHD16B, LOC112268269 (G419R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130654	NM_080622.4(ABHD16B):c.1298G>A (p.Arg433Gln)	ABHD16B, LOC112268269 (R433Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2465054	NM_080622.4(ABHD16B):c.1300C>T (p.Arg434Trp)	ABHD16B, LOC112268269 (R434W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2486582	NM_080622.4(ABHD16B):c.1303C>T (p.Arg435Cys)	ABHD16B, LOC112268269 (R435C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130665	NM_080622.4(ABHD16B):c.1315G>C (p.Ala439Pro)	ABHD16B, LOC112268269 (A439P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320797	NM_080622.4(ABHD16B):c.1331G>A (p.Arg444Gln)	LOC112268269, ABHD16B (R444Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2347380	NM_080622.4(ABHD16B):c.1331G>T (p.Arg444Leu)	ABHD16B, LOC112268269 (R444L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130671	NM_080622.4(ABHD16B):c.1360C>T (p.His454Tyr)	ABHD16B, LOC112268269 (H454Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2614656	NM_080622.4(ABHD16B):c.1378C>T (p.Pro460Ser)	ABHD16B, LOC112268269 (P460S)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	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 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	SLCO4A1, TPD52L2 +49 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +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	CHRNA4, DNAJC5 +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 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

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