RBBP8NL[gene] - ClinVar

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Items: 78

	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 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 2278780	NM_080833.3(RBBP8NL):c.1961C>T (p.Pro654Leu)	RBBP8NL (P654L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313119	NM_080833.3(RBBP8NL):c.1939A>G (p.Arg647Gly)	RBBP8NL (R647G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466232	NM_080833.3(RBBP8NL):c.1825G>A (p.Gly609Arg)	RBBP8NL (G609R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525718	NM_080833.3(RBBP8NL):c.1789G>A (p.Gly597Arg)	RBBP8NL (G597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152082	NM_080833.3(RBBP8NL):c.1787C>A (p.Thr596Asn)	RBBP8NL (T596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619693	NM_080833.3(RBBP8NL):c.1708T>C (p.Ser570Pro)	RBBP8NL (S570P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250421	NM_080833.3(RBBP8NL):c.1666G>A (p.Gly556Ser)	RBBP8NL (G556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152081	NM_080833.3(RBBP8NL):c.1556C>T (p.Ser519Phe)	RBBP8NL (S519F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393566	NM_080833.3(RBBP8NL):c.1528A>G (p.Met510Val)	RBBP8NL (M510V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313120	NM_080833.3(RBBP8NL):c.1489G>A (p.Gly497Arg)	RBBP8NL (G497R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547969	NM_080833.3(RBBP8NL):c.1429C>T (p.Pro477Ser)	RBBP8NL (P477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313124	NM_080833.3(RBBP8NL):c.1393C>T (p.Leu465Phe)	RBBP8NL (L465F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313125	NM_080833.3(RBBP8NL):c.1375G>A (p.Ala459Thr)	RBBP8NL (A459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313121	NM_080833.3(RBBP8NL):c.1358A>G (p.Gln453Arg)	RBBP8NL (Q453R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313118	NM_080833.3(RBBP8NL):c.1334C>T (p.Ser445Leu)	RBBP8NL (S445L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313127	NM_080833.3(RBBP8NL):c.1317C>A (p.Asp439Glu)	RBBP8NL (D439E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366604	NM_080833.3(RBBP8NL):c.1265C>T (p.Pro422Leu)	RBBP8NL (P422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328268	NM_080833.3(RBBP8NL):c.1262G>A (p.Gly421Asp)	RBBP8NL (G421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560517	NM_080833.3(RBBP8NL):c.1234T>C (p.Ser412Pro)	RBBP8NL (S412P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152080	NM_080833.3(RBBP8NL):c.1219G>A (p.Ala407Thr)	RBBP8NL (A407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152079	NM_080833.3(RBBP8NL):c.1205C>T (p.Thr402Ile)	RBBP8NL (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488647	NM_080833.3(RBBP8NL):c.1122G>T (p.Arg374Ser)	RBBP8NL (R374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532011	NM_080833.3(RBBP8NL):c.1109C>T (p.Ala370Val)	RBBP8NL (A370V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539968	NM_080833.3(RBBP8NL):c.953G>A (p.Arg318Gln)	RBBP8NL (R318Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152088	NM_080833.3(RBBP8NL):c.952C>T (p.Arg318Trp)	RBBP8NL (R318W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313123	NM_080833.3(RBBP8NL):c.812G>A (p.Arg271Gln)	RBBP8NL (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475422	NM_080833.3(RBBP8NL):c.811C>T (p.Arg271Trp)	RBBP8NL (R271W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652496	NM_080833.3(RBBP8NL):c.800T>C (p.Leu267Pro)	RBBP8NL (L267P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2623035	NM_080833.3(RBBP8NL):c.750C>G (p.Ser250Arg)	RBBP8NL (S250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152087	NM_080833.3(RBBP8NL):c.703G>A (p.Asp235Asn)	RBBP8NL (D235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398737	NM_080833.3(RBBP8NL):c.637C>T (p.Arg213Cys)	RBBP8NL (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475040	NM_080833.3(RBBP8NL):c.589C>T (p.Pro197Ser)	RBBP8NL (P197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544475	NM_080833.3(RBBP8NL):c.535C>T (p.Arg179Trp)	RBBP8NL (R179W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152086	NM_080833.3(RBBP8NL):c.523G>A (p.Gly175Ser)	RBBP8NL (G175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313126	NM_080833.3(RBBP8NL):c.497A>T (p.His166Leu)	RBBP8NL (H166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314987	NM_080833.3(RBBP8NL):c.428C>T (p.Pro143Leu)	RBBP8NL (P143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265313	NM_080833.3(RBBP8NL):c.427C>G (p.Pro143Ala)	RBBP8NL (P143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152085	NM_080833.3(RBBP8NL):c.346G>A (p.Glu116Lys)	RBBP8NL (E116K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152084	NM_080833.3(RBBP8NL):c.328G>C (p.Gly110Arg)	RBBP8NL (G110R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152083	NM_080833.3(RBBP8NL):c.314C>T (p.Thr105Ile)	RBBP8NL (T105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510136	NM_080833.3(RBBP8NL):c.298C>T (p.Arg100Cys)	RBBP8NL (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313122	NM_080833.3(RBBP8NL):c.271G>A (p.Glu91Lys)	RBBP8NL (E91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238504	NM_080833.3(RBBP8NL):c.241G>C (p.Glu81Gln)	RBBP8NL (E81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358198	NM_080833.3(RBBP8NL):c.232G>C (p.Val78Leu)	RBBP8NL (V78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519887	NM_080833.3(RBBP8NL):c.211G>A (p.Gly71Ser)	RBBP8NL (G71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338124	NM_080833.3(RBBP8NL):c.181C>G (p.Leu61Val)	RBBP8NL (L61V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365357	NM_080833.3(RBBP8NL):c.152G>A (p.Arg51Gln)	RBBP8NL (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225791	NM_080833.3(RBBP8NL):c.119T>C (p.Ile40Thr)	RBBP8NL (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152078	NM_080833.3(RBBP8NL):c.115A>G (p.Arg39Gly)	RBBP8NL (R39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491065	NM_080833.3(RBBP8NL):c.110C>T (p.Ala37Val)	RBBP8NL (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301352	NM_080833.3(RBBP8NL):c.30G>T (p.Arg10Ser)	RBBP8NL (R10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296311	NM_080833.3(RBBP8NL):c.19T>C (p.Ser7Pro)	RBBP8NL (S7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248249	NC_000020.10:g.(?_60831241)_(62051045_?)dup	ADRM1, ARFGAP1 +27 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	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 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 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 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 687280	GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3	ARFGAP1, BHLHE23 +23 more	Copy number gain	not provided	GUncertain significance
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
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 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 221406	GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1	ADRM1, ARFGAP1 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221355	chr20:60885242-61929348 complex variant	ARFGAP1, BHLHE23 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 78