15852[HGNC] - 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 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 58977	GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1	ARFGAP1, BIRC7 +37 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 221549	GRCh38/hg38 20q13.33(chr20:63239482-63415015)x1	ARFGAP1, BIRC7 +15 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1341868	NC_000020.11:g.63255263_63498365del	ARFGAP1, CHRNA4 +19 more	Deletion	Seizure	GLikely pathogenic
Select item 2402320	NM_018209.4(ARFGAP1):c.35A>C (p.Glu12Ala)	ARFGAP1 (E12A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470012	NM_018209.4(ARFGAP1):c.86A>G (p.Asn29Ser)	ARFGAP1 (N29S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509061	NM_018209.4(ARFGAP1):c.208A>G (p.Ile70Val)	ARFGAP1 (I70V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2314317	NM_018209.4(ARFGAP1):c.242C>T (p.Ala81Val)	ARFGAP1 (A81V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510979	NM_018209.4(ARFGAP1):c.427C>T (p.Pro143Ser)	ARFGAP1 (P143S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248114	NM_018209.4(ARFGAP1):c.436G>T (p.Val146Leu)	ARFGAP1 (V146L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128331	NM_018209.4(ARFGAP1):c.473C>T (p.Ala158Val)	ARFGAP1 (A105V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218435	NM_018209.4(ARFGAP1):c.556T>A (p.Phe186Ile)	ARFGAP1 (F133I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590863	NM_018209.4(ARFGAP1):c.572C>T (p.Pro191Leu)	ARFGAP1 (P78L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366903	NM_018209.4(ARFGAP1):c.598C>T (p.Leu200Phe)	ARFGAP1 (L87F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242998	NM_018209.4(ARFGAP1):c.614C>T (p.Ser205Phe)	ARFGAP1 (S205F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128332	NM_018209.4(ARFGAP1):c.658C>T (p.Arg220Trp)	ARFGAP1 (R107W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128333	NM_018209.4(ARFGAP1):c.659G>A (p.Arg220Gln)	ARFGAP1 (R107Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352678	NM_018209.4(ARFGAP1):c.707C>T (p.Ala236Val)	ARFGAP1 (A123V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234982	NM_018209.4(ARFGAP1):c.719C>T (p.Ala240Val)	ARFGAP1 (A127V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207803	NM_018209.4(ARFGAP1):c.734A>G (p.His245Arg)	ARFGAP1 (H132R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251914	NM_018209.4(ARFGAP1):c.764C>T (p.Ala255Val)	ARFGAP1 (A212V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128334	NM_018209.4(ARFGAP1):c.809G>A (p.Ser270Asn)	ARFGAP1 (S270N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313682	NM_018209.4(ARFGAP1):c.818C>A (p.Ser273Tyr)	ARFGAP1 (S230Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522253	NM_018209.4(ARFGAP1):c.830C>T (p.Ser277Phe)	ARFGAP1 (S277F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396858	NM_018209.4(ARFGAP1):c.832A>G (p.Lys278Glu)	ARFGAP1 (K165E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355843	NM_018209.4(ARFGAP1):c.868G>A (p.Val290Ile)	ARFGAP1 (V245I +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2361695	NM_018209.4(ARFGAP1):c.898G>A (p.Gly300Ser)	ARFGAP1 (G255S +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2617645	NM_018209.4(ARFGAP1):c.913C>T (p.Pro305Ser)	ARFGAP1 (P260S +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2376278	NM_018209.4(ARFGAP1):c.968A>G (p.Asn323Ser)	ARFGAP1 (N278S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309994	NM_018209.4(ARFGAP1):c.970A>G (p.Ile324Val)	ARFGAP1 (I279V +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3128328	NM_018209.4(ARFGAP1):c.1039G>A (p.Asp347Asn)	ARFGAP1 (D234N +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2281893	NM_018209.4(ARFGAP1):c.1040A>C (p.Asp347Ala)	ARFGAP1 (D302A +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2266778	NM_018209.4(ARFGAP1):c.1054G>A (p.Ala352Thr)	ARFGAP1 (A360T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3128329	NM_018209.4(ARFGAP1):c.1055C>T (p.Ala352Val)	ARFGAP1 (A239V +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2294074	NM_018209.4(ARFGAP1):c.1069G>A (p.Glu357Lys)	ARFGAP1 (E357K +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2306731	NM_018209.4(ARFGAP1):c.1079G>T (p.Ser360Ile)	ARFGAP1 (S368I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2652519	NM_018209.4(ARFGAP1):c.1104C>G (p.Gly368=)	ARFGAP1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3128330	NM_018209.4(ARFGAP1):c.1106C>T (p.Ser369Leu)	ARFGAP1 (S377L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2610806	NM_018209.4(ARFGAP1):c.1135G>A (p.Asp379Asn)	ARFGAP1 (D379N +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2567851	NM_018209.4(ARFGAP1):c.1148G>A (p.Gly383Asp)	ARFGAP1 (G338D +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2533699	NM_018209.4(ARFGAP1):c.1150G>A (p.Gly384Arg)	ARFGAP1 (G271R +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2357566	NM_018209.4(ARFGAP1):c.1172T>C (p.Val391Ala)	ARFGAP1 (V278A +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
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 3062407	GRCh37/hg19 20q13.33(chr20:61716119-62416074)x1	ARFGAP1, ARFRP1 +22 more	Copy number loss	not specified	GPathogenic
Select item 3062402	GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1	ARFGAP1, BHLHE23 +15 more	Copy number loss	not specified	GPathogenic
Select item 2685650	GRCh37/hg19 20q13.33(chr20:61917241-62018668)x1	ARFGAP1, CHRNA4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2672055	GRCh37/hg19 20q13.33(chr20:61704244-62169893)x3	ARFGAP1, BIRC7 +13 more	Copy number gain	See cases	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 2427488	NC_000020.10:g.(?_61471874)_(62078210_?)del	ARFGAP1, BHLHE23 +13 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 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 1409926	NC_000020.10:g.(?_61448417)_(62124660_?)del	ARFGAP1, BHLHE23 +14 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 1341217	GRCh37/hg19 20q13.33(chr20:61634256-61975378)x1	ARFGAP1, BHLHE23 +7 more	Copy number loss	not provided	GUncertain significance
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 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 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	MIR1-1, MIR1-1HG +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +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 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 687715	GRCh37/hg19 20q13.33(chr20:61678415-62247462)x3	ARFGAP1, BIRC7 +14 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 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	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 564626	GRCh37/hg19 20q13.33(chr20:61658787-62070966)x3	NKAIN4, HAR1B +7 more	Copy number gain	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 442964	GRCh37/hg19 20q13.33(chr20:61530581-61911114)x1	ARFGAP1, BHLHE23 +8 more	Copy number loss	See cases	GLikely benign
Select item 442909	GRCh37/hg19 20q13.33(chr20:61602977-62450998)x3	ARFGAP1, ARFRP1 +23 more	Copy number gain	See cases	GUncertain significance

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