"GeneDx"[submitter] AND "REEP1"[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1259649	NC_000002.12:g.86213962G>T	REEP1	Single nucleotide variant	not provided	GBenign
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 337344	NM_001371279.1(REEP1):c.*2859T>G	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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)	Hereditary spastic paraplegia 31 +1 more	GBenign
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 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 337358	NM_001371279.1(REEP1):c.*2131G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 337371	NM_001371279.1(REEP1):c.*1415G>T	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 337377	NM_001371279.1(REEP1):c.*965G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 31 +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 337380	NM_001371279.1(REEP1):c.*737T>C	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 337382	NM_001371279.1(REEP1):c.*630G>A	REEP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
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 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 +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 +5 more	GConflicting classifications of pathogenicity
Select item 507160	NM_001371279.1(REEP1):c.784-18_784-15del	REEP1	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 378476	NM_001371279.1(REEP1):c.784-16C>T	REEP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 138909	NM_001371279.1(REEP1):c.784-19T>G	REEP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1212216	NM_001371279.1(REEP1):c.784-285A>C	REEP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201864	NM_001371279.1(REEP1):c.595+155C>T	REEP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205695	NM_001371279.1(REEP1):c.595+62C>T	REEP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 411806	NM_001371279.1(REEP1):c.538_553del (p.Gly180fs)	REEP1 (G180fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GLikely pathogenic
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 +2 more	GConflicting classifications of pathogenicity
Select item 465821	NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu)	REEP1 (P173L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3369022	NM_001371279.1(REEP1):c.514C>T (p.Pro172Ser)	REEP1 (P145S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 380348	NM_001371279.1(REEP1):c.483A>G (p.Gly161=)	REEP1 (E83G)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1723545	NM_001371279.1(REEP1):c.475A>G (p.Ile159Val)	REEP1 (I132V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 31 +1 more	GUncertain significance
Select item 507906	NM_001371279.1(REEP1):c.418-13G>A	REEP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 669113	NM_001371279.1(REEP1):c.417+211T>G	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669111	NM_001371279.1(REEP1):c.417+178C>T	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292068	NM_001371279.1(REEP1):c.417+100A>G	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290966	NM_001371279.1(REEP1):c.417+45T>C	REEP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 386520	NM_001371279.1(REEP1):c.408T>A (p.Ala136=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 216736	NM_001371279.1(REEP1):c.396G>A (p.Ala132=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 379204	NM_001371279.1(REEP1):c.381C>T (p.Asn127=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 508132	NM_001371279.1(REEP1):c.363C>T (p.Phe121=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 844577	NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter)	REEP1 (Y115* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 31 +1 more	GPathogenic/Likely pathogenic
Select item 1863	NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)	REEP1 (R113* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 31 +2 more	GPathogenic
Select item 1235977	NM_001371279.1(REEP1):c.304-94C>A	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130108	NM_001371279.1(REEP1):c.285G>A (p.Thr95=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 5B +4 more	GBenign
Select item 390091	NM_001371279.1(REEP1):c.270G>A (p.Lys90=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31 +1 more	GLikely benign
Select item 245981	NM_001371279.1(REEP1):c.264C>G (p.Tyr88Ter)	REEP1 (Y88* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1200787	NM_001371279.1(REEP1):c.182+221C>T	REEP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251539	NM_001371279.1(REEP1):c.182+143T>A	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291422	NM_001371279.1(REEP1):c.182+45del	REEP1	Deletion (intron variant)	not provided	GBenign
Select item 391672	NM_001371279.1(REEP1):c.182+16G>T	REEP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 620230	NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter)	REEP1 (W61* +2 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 31 +1 more	GPathogenic
Select item 384773	NM_001371279.1(REEP1):c.156G>A (p.Glu52=)	REEP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1314076	NM_001371279.1(REEP1):c.133T>G (p.Phe45Val)	REEP1 (F18V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177838	NM_001371279.1(REEP1):c.106-81G>A	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677279	NM_001371279.1(REEP1):c.106-170C>A	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669110	NM_001371279.1(REEP1):c.105+214A>G	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676674	NM_001371279.1(REEP1):c.105+191G>A	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229037	NM_001371279.1(REEP1):c.105+78T>C	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290967	NM_001371279.1(REEP1):c.105+26C>T	REEP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1308756	NM_001371279.1(REEP1):c.99G>C (p.Lys33Asn)	REEP1 (K33N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 665066	NM_001371279.1(REEP1):c.76G>A (p.Ala26Thr)	REEP1 (A33T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31 +1 more	GUncertain significance
Select item 1862	NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)	REEP1 (A20E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31 +2 more	GPathogenic/Likely pathogenic
Select item 1343959	NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr)	REEP1 (A20T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1290965	NM_001371279.1(REEP1):c.33-23A>C	REEP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1183290	NM_001371279.1(REEP1):c.33-136A>G	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292566	NM_001371279.1(REEP1):c.33-236A>G	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674126	NM_001371279.1(REEP1):c.32+244G>T	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196577	NM_001371279.1(REEP1):c.32+198G>A	REEP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237996	NM_001371279.1(REEP1):c.32+140G>C	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673481	NM_001371279.1(REEP1):c.32+112G>T	REEP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379684	NM_001371279.1(REEP1):c.32+19C>G	REEP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 387507	NM_001371279.1(REEP1):c.32+14T>A	REEP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 215086	NM_001371279.1(REEP1):c.10T>G (p.Trp4Gly)	REEP1 (W4G +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 31 +1 more	GUncertain significance
Select item 378475	NM_001371279.1(REEP1):c.-15G>A	REEP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 452329	NM_001371279.1(REEP1):c.-50_-26dup	REEP1	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1266951	NM_001371279.1(REEP1):c.-34_-33insAGCCG	REEP1	Insertion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 421899	NM_001371279.1(REEP1):c.-35_-34delinsTT	REEP1	Indel (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 337388	NM_001371279.1(REEP1):c.-44AGCCG[3]	REEP1	Microsatellite (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1218448	NM_001164730.2(REEP1):c.53+323GCC[8]	REEP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1186995	NM_001164730.2(REEP1):c.53+328C>G	REEP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 215082	NM_001164730.2(REEP1):c.53+17G>T	REEP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1298057	NC_000002.12:g.86338248A>G	REEP1	Single nucleotide variant	not provided	GBenign
Select item 1187431	NC_000002.12:g.86338295TCT[1]	REEP1	Microsatellite	not provided	GLikely benign
Select item 676673	NM_022912.2(REEP1):c.-834A>G	REEP1	Single nucleotide variant	not provided	GBenign
Select item 254026	GRCh37/hg19 2p11.2(chr2:86298862-86509326)x3	IMMT, PTCD3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253751	GRCh37/hg19 2p11.2(chr2:86269067-86509326)x3	REEP1, MRPL35 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253380	GRCh37/hg19 2p11.2(chr2:86441169-86509452)x3	REEP1	Copy number gain	See cases	GPathogenic
Select item 3361000	NM_001371279.1(REEP1):c.50_53dup (p.Pro19fs)	REEP1 (P19fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic

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Items: 89