OGFR[gene] - ClinVar

Search results

Items: 98

	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 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	LOC130066313, LOC130066314 +183 more	Copy number loss	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 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 737241	NM_007346.4(OGFR):c.172-8C>G	OGFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2354229	NM_007346.4(OGFR):c.353C>T (p.Thr118Met)	OGFR (T118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2271857	NM_007346.4(OGFR):c.595C>T (p.Arg199Cys)	OGFR (R199C)	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 2408704	NM_007346.4(OGFR):c.731G>A (p.Arg244Gln)	OGFR (R244Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3302223	NM_007346.4(OGFR):c.740C>G (p.Pro247Arg)	OGFR (P247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302221	NM_007346.4(OGFR):c.745G>A (p.Val249Met)	OGFR (V249M)	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 2465612	NM_007346.4(OGFR):c.791G>A (p.Arg264Gln)	OGFR (R264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2536978	NM_007346.4(OGFR):c.934G>A (p.Glu312Lys)	OGFR (E312K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302220	NM_007346.4(OGFR):c.964G>A (p.Glu322Lys)	OGFR (E322K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2318126	NM_007346.4(OGFR):c.982C>G (p.Arg328Gly)	OGFR (R328G)	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 3302224	NM_007346.4(OGFR):c.1012G>T (p.Gly338Trp)	OGFR (G338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302222	NM_007346.4(OGFR):c.1033C>T (p.Pro345Ser)	OGFR (P345S)	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 2285451	NM_007346.4(OGFR):c.1073T>C (p.Leu358Pro)	OGFR (L358P)	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 3204140	NM_007346.4(OGFR):c.1108G>A (p.Gly370Arg)	OGFR (G370R)	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 2407818	NM_007346.4(OGFR):c.1154G>A (p.Arg385Lys)	OGFR (R385K)	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 3204141	NM_007346.4(OGFR):c.1231G>A (p.Ala411Thr)	OGFR (A411T)	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 2251787	NM_007346.4(OGFR):c.1493A>G (p.Asn498Ser)	OGFR (N498S)	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 3204142	NM_007346.4(OGFR):c.1523C>T (p.Thr508Met)	OGFR (T508M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302226	NM_007346.4(OGFR):c.1540A>G (p.Thr514Ala)	OGFR (T514A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2652500	NM_007346.4(OGFR):c.1638A>G (p.Pro546=)	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 2236669	NM_007346.4(OGFR):c.1714G>C (p.Asp572His)	OGFR (D572H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652502	NM_007346.4(OGFR):c.1716C>T (p.Asp572=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3204143	NM_007346.4(OGFR):c.1740G>C (p.Glu580Asp)	OGFR (E580D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652503	NM_007346.4(OGFR):c.1758G>A (p.Pro586=)	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 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 3302225	NM_007346.4(OGFR):c.1818G>A (p.Pro606=)	OGFR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2652505	NM_007346.4(OGFR):c.1836C>T (p.Asp612=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2246944	NM_007346.4(OGFR):c.1856C>T (p.Ser619Leu)	OGFR (S619L)	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 2606247	NM_007346.4(OGFR):c.1877C>T (p.Pro626Leu)	OGFR (P626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652506	NM_007346.4(OGFR):c.1906_1965del (p.Glu636_Ala655del)	OGFR	Deletion (inframe_deletion)	not provided	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 2373395	NM_007346.4(OGFR):c.1937C>T (p.Pro646Leu)	OGFR (P646L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652507	NM_007346.4(OGFR):c.1956T>C (p.Asp652=)	OGFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3248249	NC_000020.10:g.(?_60831241)_(62051045_?)dup	ADRM1, ARFGAP1 +27 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3062402	GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1	ARFGAP1, BHLHE23 +15 more	Copy number loss	not specified	GPathogenic
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 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)	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 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 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 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)	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 98