ClinVar for Gene (Select 196074) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294418	NM_001113528.2(METTL15):c.346T>C (p.Tyr116His)	METTL15 (Y116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294417	NM_001113528.2(METTL15):c.32A>G (p.Tyr11Cys)	METTL15 (Y11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125464	NM_001113528.2(METTL15):c.88C>G (p.Pro30Ala)	METTL15 (P30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125463	NM_001113528.2(METTL15):c.870A>G (p.Ile290Met)	METTL15 (I290M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125462	NM_001113528.2(METTL15):c.58G>A (p.Glu20Lys)	METTL15 (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125461	NM_001113528.2(METTL15):c.538C>G (p.Pro180Ala)	METTL15 (P180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125460	NM_001113528.2(METTL15):c.424A>G (p.Met142Val)	METTL15 (M142V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125459	NM_001113528.2(METTL15):c.136C>T (p.Arg46Trp)	METTL15 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125458	NM_001113528.2(METTL15):c.1189C>T (p.Arg397Cys)	METTL15 (R397C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063196	GRCh37/hg19 11p14.1(chr11:28288954-28333157)x1	METTL15	Copy number loss	not specified	GUncertain significance
Select item 3063190	GRCh37/hg19 11p14.1(chr11:28165412-28321960)x1	METTL15	Copy number loss	not specified	GUncertain significance
Select item 2685401	GRCh37/hg19 11p14.1(chr11:28255216-28391670)x1	METTL15	Copy number loss	not provided	GUncertain significance
Select item 2595419	NM_001113528.2(METTL15):c.803A>T (p.Tyr268Phe)	METTL15 (Y268F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563246	NM_001113528.2(METTL15):c.7C>T (p.Arg3Trp)	METTL15 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540481	NM_001113528.2(METTL15):c.494G>T (p.Gly165Val)	METTL15 (G165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516727	NM_001113528.2(METTL15):c.185A>G (p.Asp62Gly)	METTL15 (D62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508638	NM_001113528.2(METTL15):c.937G>C (p.Gly313Arg)	METTL15 (G313R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494671	NM_001113528.2(METTL15):c.908T>C (p.Leu303Pro)	METTL15 (L303P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481089	NM_001113528.2(METTL15):c.1070G>A (p.Gly357Asp)	METTL15 (G357D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2465301	NM_001113528.2(METTL15):c.809G>T (p.Arg270Leu)	METTL15 (R270L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463728	NM_001113528.2(METTL15):c.403T>C (p.Tyr135His)	METTL15 (Y135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401145	NM_001113528.2(METTL15):c.119A>G (p.Tyr40Cys)	METTL15 (Y40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368348	NM_001113528.2(METTL15):c.1144G>A (p.Val382Ile)	METTL15 (V382I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368278	NM_001113528.2(METTL15):c.619G>A (p.Ala207Thr)	METTL15 (A207T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366462	NM_001113528.2(METTL15):c.944G>A (p.Arg315His)	METTL15 (R315H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342500	NM_001113528.2(METTL15):c.316A>G (p.Ile106Val)	METTL15 (I106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340178	NM_001113528.2(METTL15):c.197A>G (p.Glu66Gly)	METTL15 (E66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326314	NM_001113528.2(METTL15):c.808C>T (p.Arg270Trp)	METTL15 (R270W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324162	NM_001113528.2(METTL15):c.866G>A (p.Arg289His)	METTL15 (R289H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251338	NM_001113528.2(METTL15):c.1166A>T (p.Asp389Val)	METTL15 (D389V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2238047	NM_001113528.2(METTL15):c.752C>T (p.Thr251Ile)	METTL15 (T251I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214563	NM_001113528.2(METTL15):c.679G>A (p.Gly227Arg)	METTL15 (R212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206671	NM_001113528.2(METTL15):c.451G>A (p.Ala151Thr)	METTL15 (A151T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711090	GRCh37/hg19 11p14.1(chr11:27382897-29172035)x1	BDNF, BDNF-AS +6 more	Copy number loss	See cases	GUncertain significance
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 1527634	GRCh37/hg19 11p14.1(chr11:28165412-28318800)	METTL15	Copy number loss	not specified	GUncertain significance
Select item 1527633	GRCh37/hg19 11p14.1(chr11:28055151-28268659)	KIF18A, METTL15 +1 more	Copy number loss	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815422	GRCh37/hg19 11p14.1(chr11:28055151-28348275)x1	KIF18A, MIR610 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563814	GRCh37/hg19 11p14.1(chr11:28224002-28315846)x1	METTL15	Copy number loss	not provided	GLikely benign
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 149600	GRCh38/hg38 11p14.1(chr11:28400886-28565966)x1	LINC02758, LOC126861173 +2 more	Copy number loss	See cases	GLikely benign
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 57