ClinVar for Gene (Select 24141) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338444	GRCh37/hg19 20p12.3-12.1(chr20:5454270-13610745)x1	ANKEF1, BMP2 +22 more	Copy number loss	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 3290088	NM_012261.4(LAMP5):c.772G>A (p.Val258Ile)	LAMP5 (V214I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290087	NM_012261.4(LAMP5):c.751G>A (p.Val251Ile)	LAMP5 (V207I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248283	NC_000020.10:g.(?_7812350)_(10654278_?)del	ANKEF1, HAO1 +9 more	Deletion	Alagille syndrome due to a JAG1 point mutation +1 more	GPathogenic
Select item 3117758	NM_012261.4(LAMP5):c.82A>G (p.Met28Val)	LAMP5 (M28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117757	NM_012261.4(LAMP5):c.804G>T (p.Gln268His)	LAMP5 (Q224H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062400	GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1	ANKEF1, BTBD3 +10 more	Copy number loss	not specified	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2624418	NM_012261.4(LAMP5):c.479G>C (p.Gly160Ala)	LAMP5 (G116A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617281	NM_012261.4(LAMP5):c.321A>C (p.Gln107His)	LAMP5 (Q107H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605168	NM_012261.4(LAMP5):c.214G>A (p.Val72Met)	LAMP5 (V72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2559493	NM_012261.4(LAMP5):c.431T>C (p.Val144Ala)	LAMP5 (V144A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373154	NM_012261.4(LAMP5):c.713C>T (p.Pro238Leu)	LAMP5 (P238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363458	NM_012261.4(LAMP5):c.593C>T (p.Thr198Met)	LAMP5 (T198M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359732	NM_012261.4(LAMP5):c.652G>T (p.Val218Phe)	LAMP5 (V174F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314172	NM_012261.4(LAMP5):c.134A>T (p.Lys45Ile)	LAMP5 (K45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299763	NM_012261.4(LAMP5):c.674G>A (p.Cys225Tyr)	LAMP5 (C225Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299548	NM_012261.4(LAMP5):c.628C>A (p.Pro210Thr)	LAMP5 (P210T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283101	NM_012261.4(LAMP5):c.349C>T (p.Leu117Phe)	LAMP5 (L117F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262434	NM_012261.4(LAMP5):c.711G>C (p.Leu237Phe)	LAMP5 (L237F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238759	NM_012261.4(LAMP5):c.533A>T (p.Lys178Met)	LAMP5 (K178M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212388	NM_012261.4(LAMP5):c.28A>G (p.Ser10Gly)	LAMP5, LAMP5-AS1 (S10G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1526681	GRCh37/hg19 20p12.3-12.2(chr20:8243107-9680538)	LAMP5, PAK5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526679	GRCh37/hg19 20p12.3-12.1(chr20:7352576-12248958)	ANKEF1, BTBD3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1440938	NC_000020.10:g.(?_7812350)_(10654278_?)dup	ANKEF1, HAO1 +9 more	Duplication	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 816116	GRCh37/hg19 20p12.3-12.2(chr20:9017816-9752893)x3	LAMP5, PLCB4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
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 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394208	GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1	ANKEF1, BMP2 +28 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51