"Illumina Laboratory Services, Illumina"[submitter] AND "REEP1"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Hereditary spastic paraplegia 31	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)	not provided +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)	not provided +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 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 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 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	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)	not provided +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	GLikely benign
Select item 337373	NM_001371279.1(REEP1):c.*1257C>T	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +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)	not provided +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 215087	NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)	REEP1 (E141K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1861	NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	REEP1	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 5B +6 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 281417	NM_001371279.1(REEP1):c.582C>T (p.Ser194=)	REEP1 (A116V)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 245986	NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)	REEP1 (R177W +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 31 +3 more	GConflicting classifications of pathogenicity
Select item 219415	NM_001371279.1(REEP1):c.486C>T (p.Asp162=)	REEP1 (T84M)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 337386	NM_001371279.1(REEP1):c.417+15G>C	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 896929	NM_001371279.1(REEP1):c.379A>G (p.Asn127Asp)	REEP1 (N127D +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 130108	NM_001371279.1(REEP1):c.285G>A (p.Thr95=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 337387	NM_001371279.1(REEP1):c.149C>T (p.Thr50Ile)	REEP1 (T57I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2627918	NM_001371279.1(REEP1):c.44G>T (p.Gly15Val)	REEP1 (G15V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 896930	NM_001371279.1(REEP1):c.-4C>A	REEP1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 337388	NM_001371279.1(REEP1):c.-44AGCCG[3]	REEP1	Microsatellite (5 prime UTR variant +1 more)	Spastic paraplegia, autosomal dominant +1 more	GBenign
Select item 896931	NM_001371279.1(REEP1):c.-73G>T	REEP1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic

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Items: 82