TCFL5[gene] - ClinVar

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Items: 85

	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 339319	NM_001853.4(COL9A3):c.*319A>C	TCFL5, COL9A3	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant	GUncertain significance
Select item 339321	NM_001853.4(COL9A3):c.*409C>T	COL9A3, TCFL5	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant	GUncertain significance
Select item 2562212	NM_006602.4(TCFL5):c.1497C>G (p.Ile499Met)	TCFL5 (I499M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381996	NM_006602.4(TCFL5):c.1466G>A (p.Gly489Glu)	TCFL5 (G489E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539764	NM_006602.4(TCFL5):c.1436C>T (p.Pro479Leu)	TCFL5 (P479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376911	NM_006602.4(TCFL5):c.1148A>G (p.Gln383Arg)	TCFL5 (Q382R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402127	NM_006602.4(TCFL5):c.1111G>A (p.Ala371Thr)	TCFL5 (A370T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247509	NM_006602.4(TCFL5):c.1097G>A (p.Gly366Asp)	TCFL5 (G365D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278265	NM_006602.4(TCFL5):c.981G>C (p.Trp327Cys)	TCFL5 (W327C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175194	NM_006602.4(TCFL5):c.950G>A (p.Ser317Asn)	TCFL5 (S317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293079	NM_006602.4(TCFL5):c.876G>T (p.Gln292His)	TCFL5 (Q292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603515	NM_006602.4(TCFL5):c.866C>T (p.Ala289Val)	TCFL5 (A289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324986	NM_006602.4(TCFL5):c.851C>G (p.Ser284Cys)	TCFL5 (S284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175193	NM_006602.4(TCFL5):c.851C>A (p.Ser284Tyr)	TCFL5 (S284Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324985	NM_006602.4(TCFL5):c.782C>G (p.Thr261Ser)	TCFL5 (T261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277409	NM_006602.4(TCFL5):c.749C>A (p.Thr250Asn)	TCFL5 (T250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364240	NM_006602.4(TCFL5):c.637G>A (p.Ala213Thr)	TCFL5 (A213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555464	NM_006602.4(TCFL5):c.626A>T (p.Glu209Val)	TCFL5 (E209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521621	NM_006602.4(TCFL5):c.622C>T (p.Pro208Ser)	TCFL5 (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324984	NM_006602.4(TCFL5):c.601G>C (p.Ala201Pro)	TCFL5 (A201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622115	NM_006602.4(TCFL5):c.599C>T (p.Pro200Leu)	TCFL5 (P200L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389609	NM_006602.4(TCFL5):c.553G>C (p.Val185Leu)	TCFL5 (V185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523396	NM_006602.4(TCFL5):c.542C>A (p.Pro181Gln)	TCFL5 (P181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217935	NM_006602.4(TCFL5):c.524C>G (p.Pro175Arg)	TCFL5 (P175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358403	NM_006602.4(TCFL5):c.487G>T (p.Gly163Cys)	TCFL5 (G163C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319809	NM_006602.4(TCFL5):c.482G>T (p.Gly161Val)	TCFL5 (G161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175191	NM_006602.4(TCFL5):c.473C>T (p.Ala158Val)	TCFL5 (A158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598842	NM_006602.4(TCFL5):c.455C>T (p.Ala152Val)	TCFL5 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338051	NM_006602.4(TCFL5):c.422A>C (p.Glu141Ala)	LOC130066333, TCFL5 (E141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175190	NM_006602.4(TCFL5):c.351C>G (p.Asp117Glu)	LOC130066333, TCFL5 (D117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209775	NM_006602.4(TCFL5):c.311C>T (p.Pro104Leu)	LOC130066333, TCFL5 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314848	NM_006602.4(TCFL5):c.308C>G (p.Ala103Gly)	LOC130066333, TCFL5 (A103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175189	NM_006602.4(TCFL5):c.301G>A (p.Gly101Ser)	LOC130066333, TCFL5 (G101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175188	NM_006602.4(TCFL5):c.174G>C (p.Gln58His)	TCFL5 (Q58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534671	NM_006602.4(TCFL5):c.154G>A (p.Val52Met)	TCFL5 (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473099	NM_006602.4(TCFL5):c.115T>G (p.Phe39Val)	TCFL5 (F39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291714	NM_006602.4(TCFL5):c.94C>G (p.Leu32Val)	TCFL5 (L32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324983	NM_006602.4(TCFL5):c.85G>T (p.Asp29Tyr)	TCFL5 (D29Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652511	NM_006602.4(TCFL5):c.30G>T (p.Pro10=)	TCFL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3324982	NM_006602.4(TCFL5):c.19C>G (p.Arg7Gly)	TCFL5 (R7G)	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 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 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	SLCO4A1, TPD52L2 +49 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +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

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Items: 85