65055[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC122787139, LOC122787140 +2458 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	LOC126806261, LOC126806262 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 58875	GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4	IMMT, LOC106783498 +22 more	Copy number gain	See cases	GUncertain significance
Select item 154917	GRCh38/hg38 2p11.2(chr2:86062007-86282203)x4	IMMT, LOC112841602 +19 more	Copy number gain	See cases	GLikely benign
Select item 150348	GRCh38/hg38 2p11.2(chr2:86062007-86282203)x3	IMMT, LOC112841602 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58876	GRCh38/hg38 2p11.2(chr2:86073968-86251223)x3	IMMT, LOC112841602 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146038	GRCh38/hg38 2p11.2(chr2:86078247-86282144)x3	IMMT, LOC112841602 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1259649	NC_000002.12:g.86213962G>T	REEP1	Single nucleotide variant	not provided	GBenign
Select item 417564	NC_000002.11:g.(?_86441116)_(86509365_?)dup	LOC112841602, LOC122787147 +2 more	Duplication	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337343	NM_001371279.1(REEP1):c.*2995T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 896796	NM_001371279.1(REEP1):c.*2967C>G	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 897273	NM_001371279.1(REEP1):c.*2896C>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337344	NM_001371279.1(REEP1):c.*2859T>G	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 897274	NM_001371279.1(REEP1):c.*2850T>G	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337345	NM_001371279.1(REEP1):c.2824_2827dup	REEP1	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 337346	NM_001371279.1(REEP1):c.*2825A>C	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 897275	NM_001371279.1(REEP1):c.*2784G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GBenign
Select item 337347	NM_001371279.1(REEP1):c.*2766T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GBenign
Select item 337348	NM_001371279.1(REEP1):c.*2733A>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337349	NM_001371279.1(REEP1):c.*2579T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 337350	NM_001371279.1(REEP1):c.*2558A>G	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337351	NM_001371279.1(REEP1):c.*2513G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 337352	NM_001371279.1(REEP1):c.*2485G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GBenign
Select item 337353	NM_001371279.1(REEP1):c.*2457G>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +1 more	GBenign/Likely benign
Select item 898446	NM_001371279.1(REEP1):c.*2434G>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337354	NM_001371279.1(REEP1):c.*2380C>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 898447	NM_001371279.1(REEP1):c.*2357A>G	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337355	NM_001371279.1(REEP1):c.*2310C>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337356	NM_001371279.1(REEP1):c.*2200C>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337357	NM_001371279.1(REEP1):c.*2189C>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337358	NM_001371279.1(REEP1):c.*2131G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +1 more	GLikely benign
Select item 337359	NM_001371279.1(REEP1):c.2050_2051insT	REEP1	Insertion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 337360	NM_001371279.1(REEP1):c.*2049dup	REEP1	Duplication (3 prime UTR variant)	Spastic paraplegia, autosomal dominant +1 more	GBenign
Select item 1190594	NM_001371279.1(REEP1):c.*2049del	REEP1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 337361	NM_001371279.1(REEP1):c.*2022del	REEP1	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 337362	NM_001371279.1(REEP1):c.2016_2017insA	REEP1	Insertion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 2651099	NM_001371279.1(REEP1):c.2012_2015dup	REEP1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 337365	NM_001371279.1(REEP1):c.2014_2016del	REEP1	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 337364	NM_001371279.1(REEP1):c.2015_2016del	REEP1	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 337363	NM_001371279.1(REEP1):c.*2016del	REEP1	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 2651100	NM_001371279.1(REEP1):c.2007_2015del	REEP1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 337366	NM_001371279.1(REEP1):c.*2015del	REEP1	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GBenign
Select item 337367	NM_001371279.1(REEP1):c.*1992del	REEP1	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 895457	NM_001371279.1(REEP1):c.*1987G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +1 more	GBenign
Select item 337368	NM_001371279.1(REEP1):c.*1853A>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 895458	NM_001371279.1(REEP1):c.*1819G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 895459	NM_001371279.1(REEP1):c.*1733T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 895460	NM_001371279.1(REEP1):c.*1702C>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337369	NM_001371279.1(REEP1):c.*1614G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 896860	NM_001371279.1(REEP1):c.*1568T>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 896861	NM_001371279.1(REEP1):c.*1533G>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 896862	NM_001371279.1(REEP1):c.*1526A>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337370	NM_001371279.1(REEP1):c.*1519T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 896863	NM_001371279.1(REEP1):c.*1435G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337371	NM_001371279.1(REEP1):c.*1415G>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +1 more	GLikely benign
Select item 896864	NM_001371279.1(REEP1):c.*1398G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GBenign
Select item 897362	NM_001371279.1(REEP1):c.*1330A>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GBenign
Select item 337372	NM_001371279.1(REEP1):c.*1325T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +1 more	GLikely benign
Select item 337373	NM_001371279.1(REEP1):c.*1257C>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +1 more	GBenign
Select item 337374	NM_001371279.1(REEP1):c.*1217A>G	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 337375	NM_001371279.1(REEP1):c.*1163A>G	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 897363	NM_001371279.1(REEP1):c.*1119G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337376	NM_001371279.1(REEP1):c.*1020CA[2]	REEP1	Microsatellite (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 337377	NM_001371279.1(REEP1):c.*965G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 337378	NM_001371279.1(REEP1):c.*954G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 337379	NM_001371279.1(REEP1):c.*906C>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GBenign
Select item 898516	NM_001371279.1(REEP1):c.*864T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 898517	NM_001371279.1(REEP1):c.*787G>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337380	NM_001371279.1(REEP1):c.*737T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +1 more	GLikely benign
Select item 337381	NM_001371279.1(REEP1):c.*663G>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GBenign
Select item 898518	NM_001371279.1(REEP1):c.*658C>G	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337382	NM_001371279.1(REEP1):c.*630G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +1 more	GBenign/Likely benign
Select item 898519	NM_001371279.1(REEP1):c.*509T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GBenign
Select item 337383	NM_001371279.1(REEP1):c.*389CA[1]	REEP1	Microsatellite (3 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance
Select item 895527	NM_001371279.1(REEP1):c.*218C>T	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337384	NM_001371279.1(REEP1):c.*165del	REEP1	Deletion (3 prime UTR variant)	Spastic paraplegia, autosomal dominant +1 more	GLikely benign
Select item 895528	NM_001371279.1(REEP1):c.*124C>G	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337385	NM_001371279.1(REEP1):c.*94T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 895529	NM_001371279.1(REEP1):c.*93G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 994781	NM_001371279.1(REEP1):c.*82G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 583480	NC_000002.12:g.(?_86217019)_(86217130_?)del	REEP1	Deletion	Hereditary spastic paraplegia 31	GUncertain significance
Select item 643719	NC_000002.11:g.(?_86444152)_(86509375_?)dup	LOC112841602, LOC122787147 +2 more	Duplication	Hereditary spastic paraplegia 31	GUncertain significance
Select item 444510	NM_001371279.1(REEP1):c.*4A>G	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 932703	NM_001371279.1(REEP1):c.853T>G (p.Ter285Gly)	REEP1	Single nucleotide variant (3 prime UTR variant +1 more)	REEP1-related disorder +1 more	GUncertain significance
Select item 215087	NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)	REEP1 (E141K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 808784	NM_001371279.1(REEP1):c.843C>T (p.Thr281=)	REEP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1861	NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	REEP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 895530	NM_001371279.1(REEP1):c.836C>T (p.Ser279Leu)	REEP1 (S279L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1166866	NM_001371279.1(REEP1):c.808C>T (p.Arg270Cys)	REEP1 (R129C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 31	GBenign
Select item 1679487	NM_001371279.1(REEP1):c.806C>T (p.Ser269Phe)	REEP1 (S128F +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1139728	NM_001371279.1(REEP1):c.794G>A (p.Arg265Lys)	REEP1 (R124K +2 more)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 242633	NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)	REEP1 (R124G +2 more)	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 3630738	NM_001371279.1(REEP1):c.792T>C (p.Pro264=)	REEP1	Single nucleotide variant (stop lost +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1469791	NM_001371279.1(REEP1):c.792T>G (p.Pro264=)	REEP1	Single nucleotide variant (stop lost +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 617748	NM_001371279.1(REEP1):c.791del (p.Pro264fs)	REEP1 (P123fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 694650	NM_001371279.1(REEP1):c.789G>A (p.Pro263=)	REEP1 (A174T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1151391	NM_001371279.1(REEP1):c.788C>T (p.Pro263Leu)	REEP1 (P122L +2 more)	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 1807102	NM_001371279.1(REEP1):c.786_787insAA (p.Pro263fs)	REEP1 (P122fs +5 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2536657	NM_001371279.1(REEP1):c.784G>A (p.Ala262Thr)	REEP1 (A250T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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