ClinVar for Gene (Select 123169) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3118386	NM_138792.4(LEO1):c.863G>A (p.Arg288His)	LEO1 (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118385	NM_138792.4(LEO1):c.742G>C (p.Asp248His)	LEO1 (D248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118384	NM_138792.4(LEO1):c.689A>T (p.Asp230Val)	LEO1 (D230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118382	NM_138792.4(LEO1):c.624A>C (p.Glu208Asp)	LEO1 (E208D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060993	NM_138792.4(LEO1):c.823A>G (p.Arg275Gly)	LEO1 (R275G)	Single nucleotide variant (missense variant)	LEO1-related condition	GBenign
Select item 3053050	NM_138792.4(LEO1):c.894G>A (p.Ala298=)	LEO1	Single nucleotide variant (synonymous variant)	LEO1-related condition	GLikely benign
Select item 3049111	NM_138792.4(LEO1):c.1897-3305G>T	LEO1 (E644*)	Single nucleotide variant (nonsense +1 more)	LEO1-related condition	GLikely benign
Select item 3046394	NM_138792.4(LEO1):c.1341-3C>T	LEO1	Single nucleotide variant (intron variant)	LEO1-related condition	GLikely benign
Select item 3044065	NM_138792.4(LEO1):c.1827C>T (p.Asp609=)	LEO1	Single nucleotide variant (synonymous variant)	LEO1-related condition	GBenign
Select item 3042939	NM_138792.4(LEO1):c.1989A>T (p.Glu663Asp)	LEO1 (E603D +1 more)	Single nucleotide variant (missense variant +1 more)	LEO1-related condition	GLikely benign
Select item 3042579	NM_138792.4(LEO1):c.1113C>T (p.Asn371=)	LEO1	Single nucleotide variant (synonymous variant)	LEO1-related condition	GLikely benign
Select item 3041459	NM_138792.4(LEO1):c.1240T>C (p.Leu414=)	LEO1	Single nucleotide variant (synonymous variant +1 more)	LEO1-related condition	GBenign
Select item 3037915	NM_138792.4(LEO1):c.63T>C (p.Ser21=)	LEO1	Single nucleotide variant (synonymous variant)	LEO1-related condition	GBenign
Select item 2690954	NM_138792.4(LEO1):c.607C>T (p.Gln203Ter)	LEO1 (Q203*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2689368	NM_138792.4(LEO1):c.1929A>T (p.Glu643Asp)	LEO1 (E583D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684759	GRCh37/hg19 15q21.2(chr15:51542162-52273119)x3	CYP19A1, DMXL2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2637254	NM_138792.4(LEO1):c.668dup (p.Asp223fs)	LEO1 (D223fs)	Duplication (frameshift variant)	LEO1-related condition	GUncertain significance
Select item 2635817	NM_138792.4(LEO1):c.1139A>G (p.Asn380Ser)	LEO1 (N380S)	Single nucleotide variant (missense variant)	LEO1-related condition	GUncertain significance
Select item 2632018	NM_138792.4(LEO1):c.1721G>A (p.Arg574Gln)	LEO1 (R514Q +1 more)	Single nucleotide variant (missense variant)	LEO1-related condition	GUncertain significance
Select item 2619356	NM_138792.4(LEO1):c.961A>G (p.Ile321Val)	LEO1 (I321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613401	NM_138792.4(LEO1):c.1113C>A (p.Asn371Lys)	LEO1 (N371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599664	NM_138792.4(LEO1):c.152G>A (p.Gly51Asp)	LEO1 (G51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597151	NM_138792.4(LEO1):c.278G>T (p.Arg93Leu)	LEO1 (R93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556316	NM_138792.4(LEO1):c.277C>T (p.Arg93Cys)	LEO1 (R93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551199	NM_138792.4(LEO1):c.1274G>C (p.Arg425Pro)	LEO1 (R425P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542612	NM_138792.4(LEO1):c.1258A>G (p.Ile420Val)	LEO1 (I420V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523476	NM_138792.4(LEO1):c.1688G>A (p.Arg563Gln)	LEO1 (R503Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519334	NM_138792.4(LEO1):c.1346C>T (p.Ser449Phe)	LEO1 (S389F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518961	NM_138792.4(LEO1):c.332A>T (p.Glu111Val)	LEO1 (E111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517291	NM_138792.4(LEO1):c.600G>C (p.Glu200Asp)	LEO1 (E200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487405	NM_138792.4(LEO1):c.808A>G (p.Lys270Glu)	LEO1 (K270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470816	NM_138792.4(LEO1):c.1845A>C (p.Glu615Asp)	LEO1 (E555D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	CYP19A1, TNFAIP8L3 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2367079	NM_138792.4(LEO1):c.190G>T (p.Asp64Tyr)	LEO1 (D64Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2352998	NM_138792.4(LEO1):c.540C>G (p.Asp180Glu)	LEO1 (D180E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345120	NM_138792.4(LEO1):c.764A>G (p.Asp255Gly)	LEO1 (D255G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333869	NM_138792.4(LEO1):c.647G>T (p.Arg216Leu)	LEO1 (R216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313496	NM_138792.4(LEO1):c.1090A>G (p.Lys364Glu)	LEO1 (K364E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282176	NM_138792.4(LEO1):c.646C>T (p.Arg216Trp)	LEO1 (R216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259132	NM_138792.4(LEO1):c.542A>G (p.Asp181Gly)	LEO1 (D181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244678	NM_138792.4(LEO1):c.1277G>A (p.Arg426Gln)	LEO1 (R426Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244460	NM_138792.4(LEO1):c.1936G>A (p.Asp646Asn)	LEO1 (D586N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238443	NM_138792.4(LEO1):c.1661G>A (p.Arg554His)	LEO1 (R494H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232460	NM_138792.4(LEO1):c.1567A>G (p.Met523Val)	LEO1 (M463V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204168	NM_138792.4(LEO1):c.642T>G (p.Asp214Glu)	LEO1 (D214E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526457	GRCh37/hg19 15q21.2(chr15:52065997-52296021)	LEO1, TMOD2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 980039	GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1	LEO1, TMOD3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 980038	GRCh37/hg19 15q21.2(chr15:52198882-52573715)x4	MAPK6, BCL2L10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 688472	GRCh37/hg19 15q21.2(chr15:51735136-52620104)x1	BCL2L10, DMXL2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 686182	GRCh37/hg19 15q21.2(chr15:52208502-52263039)x1	LEO1	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564204	GRCh37/hg19 15q21.2(chr15:52247897-52335721)x1	LEO1, MAPK6	Copy number loss	not provided	GUncertain significance
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic

ClinVar

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Links from Gene

Items: 72