ClinVar for Gene (Select 51308) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 135

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042843	NM_001271803.2(REEP2):c.-1C>T	LOC129994740, REEP2	Single nucleotide variant (5 prime UTR variant +1 more)	REEP2-related condition	GLikely benign
Select item 3042610	NM_001271803.2(REEP2):c.105+7G>A	REEP2	Single nucleotide variant (intron variant)	REEP2-related condition	GLikely benign
Select item 2984119	NM_001271803.2(REEP2):c.312C>T (p.Asp104=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2914509	NM_001271803.2(REEP2):c.424G>C (p.Gly142Arg)	REEP2 (G140R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2898949	NM_001271803.2(REEP2):c.518G>A (p.Arg173His)	REEP2 (R171H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2876949	NM_001271803.2(REEP2):c.182+13G>A	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2871001	NM_001271803.2(REEP2):c.235C>T (p.Pro79Ser)	REEP2 (P79S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2848247	NM_001271803.2(REEP2):c.33-5C>T	REEP2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2835687	NM_001271803.2(REEP2):c.223T>C (p.Trp75Arg)	REEP2 (W75R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2827344	NM_001271803.2(REEP2):c.418-13G>A	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2762540	NM_001271803.2(REEP2):c.417+10G>A	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2752453	NM_001271803.2(REEP2):c.753C>T (p.Gly251=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2737956	NM_001271803.2(REEP2):c.739A>G (p.Thr247Ala)	REEP2 (T245A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2731323	NM_001271803.2(REEP2):c.483C>G (p.Asp161Glu)	REEP2 (D159E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2724335	NM_001271803.2(REEP2):c.574C>T (p.Pro192Ser)	REEP2 (P192S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2723738	NM_001271803.2(REEP2):c.606G>A (p.Pro202=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2716501	NM_001271803.2(REEP2):c.304-4A>C	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2716397	NM_001271803.2(REEP2):c.484G>A (p.Glu162Lys)	REEP2 (E160K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2711678	NM_001271803.2(REEP2):c.726G>C (p.Arg242=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2705179	NM_001271803.2(REEP2):c.555C>T (p.Ile185=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72 +1 more	GLikely benign
Select item 2704921	NM_001271803.2(REEP2):c.513C>T (p.Asp171=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2633721	NM_001271803.2(REEP2):c.536G>C (p.Gly179Ala)	REEP2 (G177A +1 more)	Single nucleotide variant (missense variant +1 more)	REEP2-related condition	GUncertain significance
Select item 2614166	NM_001271803.2(REEP2):c.313G>A (p.Glu105Lys)	REEP2 (E105K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503970	NM_001271803.2(REEP2):c.752G>C (p.Gly251Ala)	REEP2 (G249A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482713	NM_001271803.2(REEP2):c.725G>C (p.Arg242Pro)	REEP2 (R242P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2210183	NM_001271803.2(REEP2):c.725G>T (p.Arg242Leu)	REEP2 (R242L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2180792	NM_001271803.2(REEP2):c.183-15C>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2169180	NM_001271803.2(REEP2):c.696+9A>C	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2165727	NM_001271803.2(REEP2):c.32+14C>T	LOC129994740, REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2157301	NM_001271803.2(REEP2):c.566-12C>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2148971	NM_001271803.2(REEP2):c.566-11C>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2130714	NM_001271803.2(REEP2):c.691G>A (p.Ala231Thr)	REEP2 (A229T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2096268	NM_001271803.2(REEP2):c.393_416dup (p.Ala138_Lys139insAsnAlaAlaValThrAlaAlaAla)	REEP2	Duplication (inframe_insertion +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2083269	NM_001271803.2(REEP2):c.303+12C>G	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2078862	NM_001271803.2(REEP2):c.747C>T (p.Gly249=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2073637	NM_001271803.2(REEP2):c.514G>A (p.Gly172Ser)	REEP2 (G170S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2064254	NM_001271803.2(REEP2):c.565+18G>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2052458	NM_001271803.2(REEP2):c.617G>A (p.Arg206Gln)	REEP2 (R206Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72 +1 more	GUncertain significance
Select item 2051992	NM_001271803.2(REEP2):c.696+6G>C	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2050668	NM_001271803.2(REEP2):c.183-13C>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2048756	NM_001271803.2(REEP2):c.33-17C>T	REEP2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2048651	NM_001271803.2(REEP2):c.556G>A (p.Glu186Lys)	REEP2 (E184K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 2047786	NM_001271803.2(REEP2):c.105+13C>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2040390	NM_001271803.2(REEP2):c.697-11T>C	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2031427	NM_001271803.2(REEP2):c.501G>T (p.Leu167=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2019622	NM_001271803.2(REEP2):c.447C>A (p.Arg149=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2013989	NM_001271803.2(REEP2):c.132C>G (p.Val44=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 2003055	NM_001271803.2(REEP2):c.508C>T (p.Pro170Ser)	REEP2 (P170S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1992748	NM_001271803.2(REEP2):c.222A>G (p.Ile74Met)	REEP2 (I74M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1985566	NM_001271803.2(REEP2):c.418-16G>A	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1984521	NM_001271803.2(REEP2):c.33-10G>C	REEP2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1983957	NM_001271803.2(REEP2):c.183-16G>A	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1980399	NM_001271803.2(REEP2):c.683C>T (p.Ala228Val)	REEP2 (A226V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1962957	NM_001271803.2(REEP2):c.105+16T>C	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1962596	NM_001271803.2(REEP2):c.432G>A (p.Leu144=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1957843	NM_001271803.2(REEP2):c.684G>A (p.Ala228=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1955074	NM_001271803.2(REEP2):c.684G>T (p.Ala228=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1944128	NM_001271803.2(REEP2):c.360G>A (p.Arg120=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1916393	NM_001271803.2(REEP2):c.486G>A (p.Glu162=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GBenign
Select item 1915995	NM_001271803.2(REEP2):c.696+11T>A	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1902058	NM_001271803.2(REEP2):c.696+8C>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1718985	NM_001271803.2(REEP2):c.100G>A (p.Glu34Lys)	REEP2 (E34K)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1717111	NM_001271803.2(REEP2):c.331C>G (p.Arg111Gly)	REEP2 (R111G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1690809	NM_001271803.2(REEP2):c.703G>A (p.Ala235Thr)	REEP2 (A233T +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1658766	NM_001271803.2(REEP2):c.429G>A (p.Val143=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1641974	NM_001271803.2(REEP2):c.183-20G>A	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1607417	NM_001271803.2(REEP2):c.540C>T (p.Ser180=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1601006	NM_001271803.2(REEP2):c.565+15C>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GBenign
Select item 1584570	NM_001271803.2(REEP2):c.696+13G>A	REEP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1564479	NM_001271803.2(REEP2):c.189C>T (p.Pro63=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1495314	NM_001271803.2(REEP2):c.517C>T (p.Arg173Cys)	REEP2 (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72 +1 more	GUncertain significance
Select item 1493138	NM_001271803.2(REEP2):c.697-3C>T	REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1458125	NM_001271803.2(REEP2):c.202C>T (p.Leu68=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1418172	NM_001271803.2(REEP2):c.350C>T (p.Thr117Ile)	REEP2 (T117I)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1405559	NM_001271803.2(REEP2):c.388G>A (p.Ala130Thr)	REEP2 (A130T)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1387682	NM_001271803.2(REEP2):c.86del (p.Thr29fs)	REEP2 (T29fs)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1339931	NM_001271803.2(REEP2):c.626C>G (p.Ala209Gly)	REEP2 (A207G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 5A	Gnot provided
Select item 1329742	NM_001271803.2(REEP2):c.33-265G>A	REEP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326624	NM_001271803.2(REEP2):c.*13C>T	REEP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1326188	NC_000005.10:g.138438961C>A	LOC129994740, REEP2	Single nucleotide variant	not provided	GLikely benign
Select item 1318089	NM_001271803.2(REEP2):c.33-65G>A	REEP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1316866	NM_001271803.2(REEP2):c.105+49G>A	REEP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295717	NM_001271803.2(REEP2):c.417+75C>T	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295465	NM_001271803.2(REEP2):c.106-143C>T	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243673	NM_001271803.2(REEP2):c.304-107T>C	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235420	NM_001271803.2(REEP2):c.32+152C>T	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226225	NM_001271803.2(REEP2):c.182+119A>G	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182586	NM_001271803.2(REEP2):c.304-75C>A	REEP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180501	NM_001271803.2(REEP2):c.125G>C (p.Trp42Ser)	REEP2 (W42S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1145132	NM_001271803.2(REEP2):c.492A>G (p.Ala164=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1138749	NM_001271803.2(REEP2):c.32+10G>C	LOC129994740, REEP2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1126228	NM_001271803.2(REEP2):c.489C>T (p.Asp163=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1095346	NM_001271803.2(REEP2):c.411C>T (p.Ala137=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1087798	NM_001271803.2(REEP2):c.324G>A (p.Thr108=)	REEP2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1079897	NM_001271803.2(REEP2):c.477C>T (p.Ile159=)	REEP2	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 72	GLikely benign
Select item 1060404	NM_001271803.2(REEP2):c.1A>G (p.Met1Val)	LOC129994740, REEP2 (M1V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 72	GUncertain significance
Select item 1050352	NM_001271803.2(REEP2):c.105+8G>A	REEP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1029276	NM_001271803.2(REEP2):c.523C>T (p.Arg175Ter)	REEP2 (R173* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 72	GLikely pathogenic

<< First< Prev

Page of 2