662[HGNC] - ClinVar

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Items: 73

	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 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 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 550590	NC_000020.11:g.63698647T>C	ARFRP1, RTEL1 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5	GUncertain significance
Select item 2511312	NM_001267547.3(ARFRP1):c.587G>A (p.Arg196Gln)	ARFRP1 (R196Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2536046	NM_001267547.3(ARFRP1):c.581C>T (p.Pro194Leu)	ARFRP1 (P147L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2554862	NM_001267547.3(ARFRP1):c.554A>G (p.Lys185Arg)	ARFRP1 (K185R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2458630	NM_001267547.3(ARFRP1):c.526G>T (p.Val176Leu)	ARFRP1 (V129L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3128431	NM_001267547.3(ARFRP1):c.482G>A (p.Arg161Gln)	ARFRP1 (R114Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3310502	NM_001267547.3(ARFRP1):c.476G>A (p.Gly159Asp)	ARFRP1 (G159D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 781505	NM_001267547.3(ARFRP1):c.447G>A (p.Thr149=)	ARFRP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2324002	NM_001267547.3(ARFRP1):c.446C>T (p.Thr149Met)	ARFRP1 (T102M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227441	NM_001267547.3(ARFRP1):c.419C>T (p.Thr140Met)	ARFRP1 (T140M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314488	NM_001267547.3(ARFRP1):c.407A>G (p.Gln136Arg)	ARFRP1 (Q89R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2321476	NM_001267547.3(ARFRP1):c.374G>A (p.Cys125Tyr)	ARFRP1 (C78Y +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2214471	NM_001267547.3(ARFRP1):c.368C>T (p.Ala123Val)	ARFRP1 (A123V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2535515	NM_001267547.3(ARFRP1):c.334A>G (p.Lys112Glu)	ARFRP1 (K65E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310511	NM_001267547.3(ARFRP1):c.257G>C (p.Trp86Ser)	ARFRP1 (W86S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128429	NM_001267547.3(ARFRP1):c.238G>A (p.Glu80Lys)	ARFRP1 (E33K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128428	NM_001267547.3(ARFRP1):c.211C>G (p.Leu71Val)	ARFRP1 (L71V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376746	NM_001267547.3(ARFRP1):c.136A>G (p.Lys46Glu)	ARFRP1 (K46E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248336	NC_000020.10:g.(?_62328143)_(62356481_?)del	ARFRP1, TNFRSF6B +1 more	Deletion	not provided	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 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 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 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	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 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	ABHD16B, ADRM1 +49 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	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	RTEL1, PPDPF +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
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 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 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
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 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ARFGAP1, ARFRP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 73