ClinVar for Gene (Select 11054) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	EDN3, EEF1A2 +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3204147	NM_007346.4(OGFR):c.272C>T (p.Thr91Met)	OGFR (T91M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204146	NM_007346.4(OGFR):c.1930C>A (p.Pro644Thr)	OGFR (P644T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204144	NM_007346.4(OGFR):c.1825C>T (p.Pro609Ser)	OGFR (P609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204143	NM_007346.4(OGFR):c.1740G>C (p.Glu580Asp)	OGFR (E580D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204142	NM_007346.4(OGFR):c.1523C>T (p.Thr508Met)	OGFR (T508M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204141	NM_007346.4(OGFR):c.1231G>A (p.Ala411Thr)	OGFR (A411T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204140	NM_007346.4(OGFR):c.1108G>A (p.Gly370Arg)	OGFR (G370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204139	NM_007346.4(OGFR):c.1001A>G (p.His334Arg)	OGFR (H334R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062402	GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1	ARFGAP1, BHLHE23 +15 more	Copy number loss	not specified	GPathogenic
Select item 2652507	NM_007346.4(OGFR):c.1956T>C (p.Asp652=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652506	NM_007346.4(OGFR):c.1906_1965del (p.Glu636_Ala655del)	OGFR	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2652505	NM_007346.4(OGFR):c.1836C>T (p.Asp612=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652504	NM_007346.4(OGFR):c.1776T>C (p.Asp592=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652503	NM_007346.4(OGFR):c.1758G>A (p.Pro586=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652502	NM_007346.4(OGFR):c.1716C>T (p.Asp572=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652501	NM_007346.4(OGFR):c.1689C>A (p.Gly563=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652500	NM_007346.4(OGFR):c.1638A>G (p.Pro546=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610154	NM_007346.4(OGFR):c.871A>G (p.Lys291Glu)	OGFR (K291E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606247	NM_007346.4(OGFR):c.1877C>T (p.Pro626Leu)	OGFR (P626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602749	NM_007346.4(OGFR):c.1080G>C (p.Arg360Ser)	OGFR (R360S)	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 2556502	NM_007346.4(OGFR):c.464A>G (p.Glu155Gly)	OGFR (E155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540064	NM_007346.4(OGFR):c.1043G>A (p.Arg348Gln)	OGFR (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538991	NM_007346.4(OGFR):c.1963G>A (p.Ala655Thr)	OGFR (A655T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536978	NM_007346.4(OGFR):c.934G>A (p.Glu312Lys)	OGFR (E312K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536219	NM_007346.4(OGFR):c.1601C>T (p.Pro534Leu)	OGFR (P534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525421	NM_007346.4(OGFR):c.1727A>C (p.Glu576Ala)	OGFR (E576A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471290	NM_007346.4(OGFR):c.1519C>G (p.Arg507Gly)	OGFR (R507G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469280	NM_007346.4(OGFR):c.1520G>A (p.Arg507Gln)	OGFR (R507Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465612	NM_007346.4(OGFR):c.791G>A (p.Arg264Gln)	OGFR (R264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461501	NM_007346.4(OGFR):c.1870C>T (p.Pro624Ser)	OGFR (P624S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2408704	NM_007346.4(OGFR):c.731G>A (p.Arg244Gln)	OGFR (R244Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407818	NM_007346.4(OGFR):c.1154G>A (p.Arg385Lys)	OGFR (R385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373578	NM_007346.4(OGFR):c.1121C>T (p.Pro374Leu)	OGFR (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373395	NM_007346.4(OGFR):c.1937C>T (p.Pro646Leu)	OGFR (P646L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354229	NM_007346.4(OGFR):c.353C>T (p.Thr118Met)	OGFR (T118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340184	NM_007346.4(OGFR):c.635G>C (p.Arg212Pro)	OGFR (R212P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336421	NM_007346.4(OGFR):c.1838A>C (p.Glu613Ala)	OGFR (E613A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318126	NM_007346.4(OGFR):c.982C>G (p.Arg328Gly)	OGFR (R328G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311488	NM_007346.4(OGFR):c.758C>T (p.Ala253Val)	OGFR (A253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289127	NM_007346.4(OGFR):c.965A>C (p.Glu322Ala)	OGFR (E322A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285451	NM_007346.4(OGFR):c.1073T>C (p.Leu358Pro)	OGFR (L358P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279268	NM_007346.4(OGFR):c.1172G>A (p.Arg391Gln)	OGFR (R391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271857	NM_007346.4(OGFR):c.595C>T (p.Arg199Cys)	OGFR (R199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251787	NM_007346.4(OGFR):c.1493A>G (p.Asn498Ser)	OGFR (N498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246944	NM_007346.4(OGFR):c.1856C>T (p.Ser619Leu)	OGFR (S619L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236669	NM_007346.4(OGFR):c.1714G>C (p.Asp572His)	OGFR (D572H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220368	NM_007346.4(OGFR):c.1447G>A (p.Gly483Arg)	OGFR (G483R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207574	NM_007346.4(OGFR):c.1796C>T (p.Ser599Leu)	OGFR (S599L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
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 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	SLC17A9, ZGPAT +51 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	HAR1A, HAR1B +47 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	CHRNA4, ABHD16B +44 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +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	RBBP8NL, ZBTB46 +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
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 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 737241	NM_007346.4(OGFR):c.172-8C>G	OGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 687718	GRCh37/hg19 20q13.33(chr20:61327990-61529781)x3	COL9A3, DIDO1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687280	GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3	ARFGAP1, BHLHE23 +23 more	Copy number gain	not provided	GUncertain significance
Select item 635913	Single allele	COL9A3, MRGBP +3 more	Deletion	Epilepsy	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 564633	GRCh37/hg19 20q13.33(chr20:61022397-61738592)x1	SLC17A9, OGFR +14 more	Copy number loss	not provided	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)	DZANK1, E2F1 +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 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 253468	GRCh37/hg19 20q13.33(chr20:61429900-62293991)x1	COL20A1, BHLHE23 +24 more	Copy number loss	See cases	GPathogenic
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
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +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	LOC130066376, LOC130066377 +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	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +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	ARFGAP1, ARFRP1 +183 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 90