ClinVar for Gene (Select 65055) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3361000	NM_001371279.1(REEP1):c.50_53dup (p.Pro19fs)	REEP1 (P19fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3346961	NM_001371279.1(REEP1):c.298G>T (p.Glu100Ter)	REEP1 (E100* +2 more)	Single nucleotide variant (nonsense +1 more)	REEP1-related disorder	GLikely pathogenic
Select item 3338443	GRCh37/hg19 2p11.2(chr2:86459682-86509481)x3	REEP1	Copy number gain	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 3337513	NM_001371279.1(REEP1):c.303+1G>A	REEP1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 3336939	NM_001371279.1(REEP1):c.333del (p.Asp112fs)	REEP1 (D112fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3237473	NM_001371279.1(REEP1):c.248G>T (p.Gly83Val)	REEP1 (G56V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 3030789	NM_001371279.1(REEP1):c.434C>T (p.Ser145Leu)	REEP1 (R67W +3 more)	Single nucleotide variant (missense variant +1 more)	REEP1-related disorder	GUncertain significance
Select item 3008896	NM_001371279.1(REEP1):c.94A>T (p.Ile32Phe)	REEP1 (I32F +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2986708	NM_001371279.1(REEP1):c.361T>C (p.Phe121Leu)	REEP1 (F121L +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2917830	NM_001371279.1(REEP1):c.395C>T (p.Ala132Val)	REEP1 (A132V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2855014	NM_001371279.1(REEP1):c.340A>G (p.Ser114Gly)	REEP1 (S114G +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2832032	NM_001371279.1(REEP1):c.26T>C (p.Leu9Pro)	REEP1 (L9P)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2829402	NM_001371279.1(REEP1):c.182+4A>G	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2818734	NM_001371279.1(REEP1):c.441A>G (p.Arg147=)	REEP1 (D69G)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2812514	NM_001371279.1(REEP1):c.518C>G (p.Pro173Arg)	REEP1 (P180R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2811077	NM_001371279.1(REEP1):c.211G>A (p.Ala71Thr)	REEP1 (A71T +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2808822	NM_001371279.1(REEP1):c.418-17T>C	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2801251	NM_001371279.1(REEP1):c.417+9C>A	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2784379	NM_001371279.1(REEP1):c.220G>T (p.Ala74Ser)	REEP1 (A74S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2781135	NM_001371279.1(REEP1):c.473C>T (p.Thr158Ile)	REEP1 (T158I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2766778	NM_001371279.1(REEP1):c.250_253dup (p.Ser85fs)	REEP1 (S92fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2757880	NM_001371279.1(REEP1):c.32+7G>T	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2756691	NM_001371279.1(REEP1):c.137C>T (p.Ala46Val)	REEP1 (A19V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2756649	NM_001371279.1(REEP1):c.33-17G>A	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2738000	NM_001371279.1(REEP1):c.437A>G (p.Glu146Gly)	REEP1 (E153G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2733934	NM_001371279.1(REEP1):c.530G>A (p.Arg177Gln)	REEP1 (R184Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31 +1 more	GUncertain significance
Select item 2719827	NM_001371279.1(REEP1):c.304G>A (p.Glu102Lys)	REEP1 (E109K +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2707179	NM_001371279.1(REEP1):c.470C>T (p.Thr157Ile)	REEP1 (T130I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2702392	NM_001371279.1(REEP1):c.72C>A (p.Tyr24Ter)	REEP1 (Y31* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 2684009	NM_001371279.1(REEP1):c.161del (p.Phe54fs)	REEP1 (F27fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2672316	NM_001371279.1(REEP1):c.122A>G (p.Tyr41Cys)	REEP1 (Y14C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2671712	NM_001371279.1(REEP1):c.715G>A (p.Glu239Lys)	REEP1 (E227K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2651100	NM_001371279.1(REEP1):c.2007_2015del	REEP1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 2651099	NM_001371279.1(REEP1):c.2012_2015dup	REEP1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 2633709	NM_001371279.1(REEP1):c.55C>A (p.Pro19Thr)	REEP1 (P19T +1 more)	Single nucleotide variant (missense variant +1 more)	REEP1-related disorder	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 2616434	NM_001371279.1(REEP1):c.327del (p.Ala110fs)	REEP1 (A83fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2578861	NM_001164730.2(REEP1):c.11T>C (p.Val4Ala)	REEP1 (V4A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2571080	NM_001371279.1(REEP1):c.304-2A>C	REEP1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
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
Select item 2500203	NM_001371279.1(REEP1):c.176T>A (p.Leu59His)	REEP1 (L32H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 2498827	NM_001371279.1(REEP1):c.275T>A (p.Val92Glu)	REEP1 (V65E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2476801	NM_001371279.1(REEP1):c.191T>C (p.Phe64Ser)	REEP1 (F37S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31 +1 more	GUncertain significance
Select item 2442146	NM_001371279.1(REEP1):c.683A>C (p.Gln228Pro)	REEP1 (Q216P +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 5B	GUncertain significance
Select item 2442048	NM_001371279.1(REEP1):c.160T>G (p.Phe54Val)	REEP1 (F27V +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5B	GUncertain significance
Select item 2426782	NC_000002.11:g.(?_86479060)_(86481957_?)del	REEP1	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 2426781	NC_000002.11:g.(?_86444223)_(86444253_?)del	REEP1	Deletion	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	ATOH8, C2orf68 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 2426779	NC_000002.11:g.(?_86479060)_(86509385_?)dup	REEP1	Duplication	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 2426778	NC_000002.11:g.(?_86459728)_(86459945_?)del	REEP1	Deletion	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2415086	NM_001371279.1(REEP1):c.33-8C>A	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2312509	NM_001371279.1(REEP1):c.295A>G (p.Lys99Glu)	REEP1 (K106E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203112	NM_001371279.1(REEP1):c.303G>A (p.Lys101=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2200010	NM_001371279.1(REEP1):c.515C>T (p.Pro172Leu)	REEP1 (P145L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2197643	NM_001371279.1(REEP1):c.106-12C>G	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GBenign
Select item 2175377	NM_001371279.1(REEP1):c.784-4C>G	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2169500	NM_001371279.1(REEP1):c.230T>C (p.Leu77Pro)	REEP1 (L84P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2158785	NM_001371279.1(REEP1):c.546C>T (p.His182=)	REEP1 (T104M)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2146855	NM_001371279.1(REEP1):c.258C>T (p.Leu86=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2145824	NM_001371279.1(REEP1):c.504G>A (p.Ser168=)	REEP1 (R90Q)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2141312	NM_001371279.1(REEP1):c.418-15C>T	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2139841	NM_001371279.1(REEP1):c.387C>T (p.Ala129=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2134187	NM_001371279.1(REEP1):c.33-18T>C	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2129879	NM_001371279.1(REEP1):c.417G>C (p.Lys139Asn)	REEP1 (K112N +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2118484	NM_001371279.1(REEP1):c.128_138dup (p.Phe48fs)	REEP1 (F21fs +2 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 31	GPathogenic
Select item 2112039	NM_001371279.1(REEP1):c.183-12C>T	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2106129	NM_001371279.1(REEP1):c.32+2T>C	REEP1	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 2100758	NM_001371279.1(REEP1):c.417+1del	REEP1	Deletion (splice donor variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 2085615	NM_001371279.1(REEP1):c.32+17C>A	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2047524	NM_001371279.1(REEP1):c.503C>T (p.Ser168Leu)	REEP1 (S141L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2046315	NM_001371279.1(REEP1):c.15C>A (p.Ile5=)	REEP1 (H3N)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2038866	NM_001371279.1(REEP1):c.33-15C>G	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2036306	NM_001371279.1(REEP1):c.304-1G>C	REEP1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 2028909	NM_001371279.1(REEP1):c.229C>T (p.Leu77=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2025476	NM_001371279.1(REEP1):c.32+6del	REEP1	Deletion (intron variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 2008310	NM_001371279.1(REEP1):c.418-2A>C	REEP1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 2007440	NM_001371279.1(REEP1):c.32+19del	REEP1	Deletion (intron variant)	Hereditary spastic paraplegia 31	GBenign
Select item 2004326	NM_001371279.1(REEP1):c.106-11T>C	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 2003213	NM_001371279.1(REEP1):c.32+4A>G	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1996533	NM_001371279.1(REEP1):c.57del (p.Ala20fs)	REEP1 (A20fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 31	GPathogenic
Select item 1984919	NM_001371279.1(REEP1):c.595+4G>A	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1977620	NM_001371279.1(REEP1):c.269A>G (p.Lys90Arg)	REEP1 (K63R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31 +1 more	GUncertain significance
Select item 1976165	NM_001371279.1(REEP1):c.560T>C (p.Met187Thr)	REEP1 (M160T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1959173	NM_001371279.1(REEP1):c.32+16C>T	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 1936108	NM_001371279.1(REEP1):c.457A>C (p.Met153Leu)	REEP1 (M160L +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1934633	NM_001371279.1(REEP1):c.288A>G (p.Leu96=)	REEP1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 31	GLikely benign
Select item 1926031	NM_001371279.1(REEP1):c.183-20G>A	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 1921274	NM_001371279.1(REEP1):c.182+16G>A	REEP1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 31	GLikely benign
Select item 1879530	GRCh37/hg19 2p11.2(chr2:86292397-86509365)x3	REEP1, IMMT +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	GUncertain significance
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 1804034	NM_001371279.1(REEP1):c.377T>A (p.Leu126Ter)	REEP1 (L126* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 1747596	NM_001371279.1(REEP1):c.544C>T (p.His182Tyr)	REEP1 (H155Y +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 1721250	NM_001371279.1(REEP1):c.131T>C (p.Ile44Thr)	REEP1 (I17T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1714958	NM_001371279.1(REEP1):c.104A>C (p.Tyr35Ser)	REEP1 (Y35S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 31	GUncertain significance
Select item 1711503	NM_001371279.1(REEP1):c.418-7222del	REEP1	Deletion (intron variant)	not provided	GBenign
Select item 1708984	NM_001371279.1(REEP1):c.148del (p.Thr50fs)	REEP1 (T23fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 31	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic

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