C1858479[trait identifier] AND "GeneReviews"[submitter] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41364	NM_025137.4(SPG11):c.7158_7159insACAA (p.Gln2387fs)	SPG11 (Q2274fs +1 more)	Insertion (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 1115	NM_025137.4(SPG11):c.7152-1G>C	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41362	NM_025137.4(SPG11):c.7151+4_7151+7del	SPG11	Microsatellite (splice donor variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41361	NM_025137.4(SPG11):c.7101dup (p.Lys2368Ter)	SPG11 (K2368* +1 more)	Duplication (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41360	NM_025137.4(SPG11):c.7085_7088dup (p.Tyr2363Ter)	SPG11 (Y2250* +1 more)	Duplication (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41358	NM_025137.4(SPG11):c.7029dup (p.Val2344fs)	SPG11 (V2231fs +1 more)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 5 +1 more	GPathogenic
Select item 41356	NM_025137.4(SPG11):c.7023C>A (p.Tyr2341Ter)	SPG11 (Y2341* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41355	NM_025137.4(SPG11):c.7000-3_7000-2insAGG	SPG11	Insertion (intron variant)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 41354	NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)	SPG11 (L2300fs +1 more)	Microsatellite (frameshift variant)	SPG11-related condition +2 more	GConflicting classifications of pathogenicity
Select item 41353	NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)	SPG11 (R2286* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 41351	NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)	SPG11 (S2165fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 41350	NM_025137.4(SPG11):c.6790dup (p.Leu2264fs)	SPG11 (L2264fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41348	NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)	SPG11 (E2134fs +1 more)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 41347	NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)	SPG11 (I2133fs +1 more)	Microsatellite (frameshift variant)	Amyotrophic lateral sclerosis type 5 +3 more	GPathogenic/Likely pathogenic
Select item 41329	NM_025137.4(SPG11):c.5867-3237_6478-451del	SPG11	Deletion (splice acceptor variant +1 more)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41345	NM_025137.4(SPG11):c.6477+4A>G	SPG11	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 5 +3 more	GConflicting classifications of pathogenicity
Select item 41344	NM_025137.4(SPG11):c.6451del (p.Ala2151fs)	SPG11 (A2038fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 41342	NM_025137.4(SPG11):c.6206-1G>C	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41341	NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)	SPG11 (V2053M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1109	NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	SPG11 (R2034*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 41340	NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	SPG11 (R2031*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 41339	NM_025137.4(SPG11):c.5992dup (p.Tyr1998fs)	SPG11 (Y1998fs)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41335	NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)	SPG11 (L1997fs)	Microsatellite (frameshift variant +1 more)	SPG11-related spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 41336	NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)	SPG11 (C1996fs)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 11 +4 more	GPathogenic
Select item 41334	NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)	SPG11 (Q1993*)	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41333	NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	SPG11 (R1992*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 41332	NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter)	SPG11 (Y1990*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41330	NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter)	SPG11 (S1957*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41328	NM_025137.4(SPG11):c.5798del (p.Ala1933fs)	SPG11 (A1933fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41327	NM_025137.4(SPG11):c.5769del (p.Ser1923fs)	SPG11 (S1923fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GPathogenic
Select item 41326	NM_025137.4(SPG11):c.5703del (p.His1902fs)	SPG11 (H1902fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 1116	NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	SPG11 (Q1875*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GPathogenic
Select item 41325	NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs)	SPG11 (K1845fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41324	NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)	SPG11 (R1824*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 41368	NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)	SPG11 (E1819fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 41323	NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs)	SPG11 (C1804fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41322	NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG (p.Gln1800fs)	SPG11 (Q1800fs)	Indel (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41320	NM_025137.4(SPG11):c.5255del (p.Phe1752fs)	LOC130056971, SPG11 (F1752fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 41319	NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)	SPG11 (Q1616*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41318	NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter)	SPG11 (Y1556*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41317	NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)	SPG11 (V1488fs)	Microsatellite (frameshift variant)	Amyotrophic lateral sclerosis type 5 +2 more	GPathogenic
Select item 41315	NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)	SPG11, LOC130056973 (Q1436fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 41313	NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr)	SPG11 (F1349Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41311	NM_025137.4(SPG11):c.3741dup (p.Pro1248fs)	SPG11 (P1248fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41310	NM_025137.4(SPG11):c.3719_3720del (p.Ile1240fs)	SPG11 (I1240fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41309	NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)	SPG11 (K1222fs)	Insertion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 41308	NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs)	SPG11 (Y1201fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41304	NM_025137.4(SPG11):c.3291+1G>T	SPG11	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2X +1 more	GPathogenic
Select item 1117	NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	SPG11 (E1026fs)	Duplication (frameshift variant)	Abnormal central motor function +3 more	GPathogenic
Select item 41301	NM_025137.4(SPG11):c.2849dup (p.Leu950fs)	SPG11 (L950fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 41300	NM_025137.4(SPG11):c.2842dup (p.Val948fs)	SPG11 (V948fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41299	NM_025137.4(SPG11):c.2834+1G>T	SPG11	Single nucleotide variant (splice donor variant)	Amyotrophic lateral sclerosis type 5 +2 more	GPathogenic/Likely pathogenic
Select item 41298	NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)	SPG11 (R945G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41297	NM_025137.4(SPG11):c.2716del (p.Gln906fs)	SPG11 (Q906fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 41296	NM_025137.4(SPG11):c.2697G>A (p.Trp899Ter)	SPG11 (W899*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41293	NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)	SPG11 (I870V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 1113	NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter)	SPG11 (K825*)	Insertion (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41290	NM_025137.4(SPG11):c.2444+1G>C	SPG11	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41291	NM_025137.4(SPG11):c.2444G>T (p.Arg815Met)	SPG11 (R815M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41289	NM_025137.4(SPG11):c.2358_2359del (p.Arg788fs)	SPG11 (R788fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41288	NM_025137.4(SPG11):c.2316+1G>A	SPG11	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 41287	NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)	SPG11 (L733*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 5 +1 more	GPathogenic
Select item 41286	NM_025137.4(SPG11):c.2163dup (p.Ile722fs)	SPG11 (I722fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 41285	NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)	SPG11 (Q716*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GPathogenic/Likely pathogenic
Select item 41284	NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)	SPG11 (R651*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +1 more	GPathogenic
Select item 41283	NM_025137.4(SPG11):c.1845_1846del (p.Ser616fs)	SPG11 (S616fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41282	NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)	SPG11 (L613fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic
Select item 41281	NM_025137.4(SPG11):c.1735+3_1735+6del	SPG11	Microsatellite (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 41280	NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA (p.Asp566fs)	SPG11 (D566fs)	Indel (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41279	NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)	SPG11 (S560*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 41278	NM_025137.4(SPG11):c.1668del (p.Phe556fs)	SPG11 (F556fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41275	NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs)	SPG11 (C518fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GConflicting classifications of pathogenicity
Select item 41274	NM_025137.4(SPG11):c.1549_1550del (p.Cys518fs)	SPG11 (C518fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41399	NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)	SPG11 (Q498*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 41273	NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)	SPG11 (L491fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41272	NM_025137.4(SPG11):c.1457-2A>G	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia +1 more	GPathogenic
Select item 41270	NM_025137.4(SPG11):c.1282A>T (p.Lys428Ter)	SPG11 (K428*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41269	NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	SPG11 (S412*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic/Likely pathogenic
Select item 41268	NM_025137.4(SPG11):c.1203del (p.Asp402fs)	SPG11 (D402fs)	Deletion (frameshift variant)	SPG11-related condition +2 more	GPathogenic
Select item 41367	NM_025137.4(SPG11):c.869+1G>A	SPG11	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 1112	NM_025137.4(SPG11):c.733_734del (p.Met245fs)	SPG11 (M245fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2X +6 more	GPathogenic
Select item 41359	NM_025137.4(SPG11):c.704_705del (p.His235fs)	SPG11 (H235fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11 +1 more	GPathogenic
Select item 41346	NM_025137.4(SPG11):c.654_655delinsG (p.Ser218fs)	SPG11 (S218fs)	Indel (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41343	NM_025137.4(SPG11):c.642del (p.Phe214fs)	SPG11 (F214fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 1110	NM_025137.4(SPG11):c.529_533del (p.Ile177fs)	SPG11 (I177fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 1114	NM_025137.4(SPG11):c.442+1G>C	SPG11	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 41314	NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del)	SPG11	Deletion (inframe_deletion)	Hereditary spastic paraplegia	GPathogenic
Select item 41312	NM_025137.4(SPG11):c.398del (p.Cys133fs)	SPG11 (C133fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41307	NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer)	SPG11	Deletion (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41306	NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)	SPG11 (E117*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41295	NM_025137.4(SPG11):c.268G>T (p.Glu90Ter)	SPG11 (E90*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	Gnot provided
Select item 41294	NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	SPG11 (W89*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GPathogenic
Select item 1111	NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)	SPG11 (Q40*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 41403	g.96677_99386del2710		Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 41349	NM_025137.3:c.6754+4insTG	SPG11	Insertion	Hereditary spastic paraplegia 11	GPathogenic
Select item 41337	NM_025137.3:c.5987_5990dupCTCT	SPG11	Duplication	Hereditary spastic paraplegia 11	GPathogenic
Select item 41331	NM_025137.3:c.5898+5493_6509-491del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 41303	NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs)	SPG11	Insertion	Hereditary spastic paraplegia 11	GPathogenic

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Items: 98