BHLHE23[gene] - ClinVar

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Items: 58

	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 150969	GRCh38/hg38 20q13.33(chr20:62939140-63198970)x3	BHLHE23, GID8 +24 more	Copy number gain	See cases	GLikely benign
Select item 1696472	Single allele	ARFGAP1, BHLHE23 +102 more	Duplication	not provided	GUncertain significance
Select item 2604134	NM_080606.4(BHLHE23):c.403G>T (p.Ala135Ser)	BHLHE23 (A135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379149	NM_080606.4(BHLHE23):c.296G>T (p.Arg99Leu)	BHLHE23 (R99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283272	NM_080606.4(BHLHE23):c.270C>A (p.Asp90Glu)	BHLHE23 (D90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605290	NM_080606.4(BHLHE23):c.208G>A (p.Ala70Thr)	BHLHE23 (A70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464842	NM_080606.4(BHLHE23):c.151G>A (p.Glu51Lys)	BHLHE23 (E51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260856	NM_080606.4(BHLHE23):c.107C>T (p.Ala36Val)	BHLHE23 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365447	NM_080606.4(BHLHE23):c.88G>T (p.Ala30Ser)	BHLHE23 (A30S)	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 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 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 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 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	MRGBP, NKAIN4 +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 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 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 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 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
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

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Items: 58