GMEB2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	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 1696472	Single allele	ARFGAP1, BHLHE23 +102 more	Duplication	not provided	GUncertain significance
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 58979	GRCh38/hg38 20q13.33(chr20:63448830-63673793)x1	EEF1A2, FNDC11 +59 more	Copy number loss	See cases	GPathogenic
Select item 3100472	NM_012384.5(GMEB2):c.1582G>A (p.Glu528Lys)	GMEB2 (E528K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560202	NM_012384.5(GMEB2):c.1544C>T (p.Thr515Met)	GMEB2 (T515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474189	NM_012384.5(GMEB2):c.1463A>G (p.Gln488Arg)	GMEB2 (Q488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100471	NM_012384.5(GMEB2):c.1352C>T (p.Ala451Val)	GMEB2, LOC132090599 (A451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556184	NM_012384.5(GMEB2):c.1351G>A (p.Ala451Thr)	GMEB2, LOC132090599 (A451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467596	NM_012384.5(GMEB2):c.1339A>C (p.Ile447Leu)	GMEB2, LOC132090599 (I447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251123	NM_012384.5(GMEB2):c.1297G>C (p.Val433Leu)	GMEB2, LOC132090599 (V433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351502	NM_012384.5(GMEB2):c.1256C>T (p.Pro419Leu)	GMEB2, LOC132090599 (P419L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346930	NM_012384.5(GMEB2):c.1225G>A (p.Val409Ile)	GMEB2, LOC132090599 (V409I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355572	NM_012384.5(GMEB2):c.1168G>A (p.Val390Ile)	GMEB2 (V390I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100470	NM_012384.5(GMEB2):c.1113G>A (p.Met371Ile)	GMEB2 (M371I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335155	NM_012384.5(GMEB2):c.928G>C (p.Glu310Gln)	GMEB2 (E310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100477	NM_012384.5(GMEB2):c.914T>C (p.Met305Thr)	GMEB2 (M305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100476	NM_012384.5(GMEB2):c.898A>G (p.Ser300Gly)	GMEB2 (S300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487830	NM_012384.5(GMEB2):c.857A>G (p.Gln286Arg)	GMEB2 (Q286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399190	NM_012384.5(GMEB2):c.827G>A (p.Arg276Gln)	GMEB2 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285653	NM_012384.5(GMEB2):c.783G>A (p.Met261Ile)	GMEB2 (M261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595951	NM_012384.5(GMEB2):c.768G>C (p.Glu256Asp)	GMEB2 (E256D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595950	NM_012384.5(GMEB2):c.767A>T (p.Glu256Val)	GMEB2 (E256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595949	NM_012384.5(GMEB2):c.766G>C (p.Glu256Gln)	GMEB2 (E256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100475	NM_012384.5(GMEB2):c.679G>A (p.Ala227Thr)	GMEB2 (A227T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370365	NM_012384.5(GMEB2):c.625G>T (p.Gly209Trp)	GMEB2 (G209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609808	NM_012384.5(GMEB2):c.556C>T (p.Arg186Cys)	GMEB2 (R186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100473	NM_012384.5(GMEB2):c.517A>G (p.Asn173Asp)	GMEB2 (N173D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281703	NM_012384.5(GMEB2):c.447C>T (p.Asn149=)	GMEB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2455314	NM_012384.5(GMEB2):c.361G>A (p.Asp121Asn)	GMEB2, LOC132090600 (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270824	NM_012384.5(GMEB2):c.269T>C (p.Ile90Thr)	GMEB2 (I90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255954	NM_012384.5(GMEB2):c.187G>T (p.Ala63Ser)	GMEB2 (A63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313113	NM_012384.5(GMEB2):c.147A>T (p.Glu49Asp)	GMEB2 (E49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342665	NM_012384.5(GMEB2):c.64G>A (p.Ala22Thr)	GMEB2 (A22T)	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 3062407	GRCh37/hg19 20q13.33(chr20:61716119-62416074)x1	ARFGAP1, ARFRP1 +22 more	Copy number loss	not specified	GPathogenic
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2684907	GRCh37/hg19 20q13.33(chr20:61934224-62247173)x3	CHRNA4, COL20A1 +8 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 2427484	NC_000020.10:g.(?_61978090)_(62324656_?)del	CHRNA4, EEF1A2 +9 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
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 2424110	NC_000020.10:g.(?_61978090)_(62324656_?)dup	CHRNA4, EEF1A2 +9 more	Duplication	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2424102	NC_000020.10:g.(?_62075992)_(62324656_?)del	EEF1A2, FNDC11 +8 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526700	GRCh37/hg19 20q13.33(chr20:61797521-62318983)	ARFGAP1, BIRC7 +14 more	Copy number loss	not specified	GPathogenic
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 1457920	NC_000020.10:g.(?_61987307)_(62329916_?)del	CHRNA4, EEF1A2 +10 more	Deletion	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1340573	GRCh37/hg19 20q13.33(chr20:61673691-62230974)x3	ARFGAP1, BIRC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1330184	GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1	ARFGAP1, BIRC7 +14 more	Copy number loss	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 1326337	GRCh37/hg19 20q13.33(chr20:61986847-62224435)	CHRNA4, EEF1A2 +7 more	Copy number loss	Seizures, benign familial neonatal, 1 +1 more	GLikely pathogenic
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 1073749	NC_000020.10:g.(?_62076002)_(62324646_?)del	EEF1A2, FNDC11 +8 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1047899	GRCh37/hg19 20q13.33(chr20:61510452-62315381)	ARFGAP1, BHLHE23 +20 more	Copy number loss	Epileptic spasm	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 979743	GRCh37/hg19 20q13.33(chr20:61507440-62318983)x3	CHRNA4, STMN3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 979742	GRCh37/hg19 20q13.33(chr20:61884113-62234685)x3	GMEB2, KCNQ2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979741	GRCh37/hg19 20q13.33(chr20:62052925-62318983)x1	PTK6, FNDC11 +8 more	Copy number loss	not provided	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 816138	GRCh37/hg19 20q13.33(chr20:62090403-62319007)x1	EEF1A2, PPDPF +8 more	Copy number loss	not provided	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 687715	GRCh37/hg19 20q13.33(chr20:61678415-62247462)x3	ARFGAP1, BIRC7 +14 more	Copy number gain	not provided	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 564629	GRCh37/hg19 20q13.33(chr20:61815143-62318983)x1	COL20A1, NKAIN4 +14 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

<< First< Prev

Page of 2