80208[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25721701.	NC_000015.10:g.44330225_44821972dup GRCh38: Chr15:44330225-44821972	B2M, CTDSPL2, EIF3J, EIF3J-DT, GOLM2, LOC121847945, LOC125078071, LOC125078072, LOC130056968, LOC130056969, LOC130056970, LOC130056971, LOC130056972, LOC130056973, LOC130056974, LOC130056975, LOC130056976, LOC130056977, LOC130056978, MIR10393, PATL2, SPG11, TRIM69		See cases	Uncertain significance (Feb 17, 2021)	criteria provided, single submitter
Select item 3160672.	NM_003758.4(EIF3J):c.1574_1578dup GRCh37: Chr15:44854920-44854921 GRCh38: Chr15:44562722-44562723	SPG11, EIF3J		Spastic Paraplegia, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 8854923.	NM_003758.4(EIF3J):c.*1584T>G GRCh37: Chr15:44854931 GRCh38: Chr15:44562733	EIF3J, SPG11		Hereditary spastic paraplegia 11	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3160684.	NM_003758.4(EIF3J):c.1601_1604dup GRCh37: Chr15:44854947-44854948 GRCh38: Chr15:44562749-44562750	EIF3J, SPG11		Spastic Paraplegia, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3160695.	NM_003758.4(EIF3J):c.*1652G>A GRCh37: Chr15:44854999 GRCh38: Chr15:44562801	EIF3J, SPG11		Spastic Paraplegia, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3160706.	NM_025137.4(SPG11):c.*299G>T GRCh37: Chr15:44855020 GRCh38: Chr15:44562822	SPG11		Hereditary spastic paraplegia 11	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3160717.	NM_025137.4(SPG11):c.*243A>G GRCh37: Chr15:44855076 GRCh38: Chr15:44562878	SPG11		Charcot-Marie-Tooth disease axonal type 2X, Amyotrophic lateral sclerosis type 5, not provided, Hereditary spastic paraplegia 11	Likely benign (Oct 10, 2019)	criteria provided, multiple submitters, no conflicts
Select item 3160728.	NM_025137.4(SPG11):c.*241C>G GRCh37: Chr15:44855078 GRCh38: Chr15:44562880	SPG11		Hereditary spastic paraplegia 11	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 16871529.	NM_025137.4(SPG11):c.7321_7328del (p.Ala2442fs) GRCh37: Chr15:44855323-44855330 GRCh38: Chr15:44563125-44563132	SPG11	A2329fs, A2442fs	Hereditary spastic paraplegia 11	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 53484710.	NM_025137.4(SPG11):c.7326del (p.Gly2443fs) GRCh37: Chr15:44855325 GRCh38: Chr15:44563127	SPG11	G2443fs, G2330fs	Inborn genetic diseases, Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X, Amyotrophic lateral sclerosis type 5, Hereditary spastic paraplegia 11	Uncertain significance (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151453911.	NM_025137.4(SPG11):c.7325C>T (p.Ala2442Val) GRCh37: Chr15:44855326 GRCh38: Chr15:44563128	SPG11	A2329V, A2442V	Hereditary spastic paraplegia 11	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 58253812.	NM_025137.4(SPG11):c.7324G>A (p.Ala2442Thr) GRCh37: Chr15:44855327 GRCh38: Chr15:44563129	SPG11	A2442T, A2329T	Hereditary spastic paraplegia 11	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 57343613.	NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro) GRCh37: Chr15:44855327 GRCh38: Chr15:44563129	SPG11	A2442P, A2329P	Hereditary spastic paraplegia 11	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 58328614.	NM_025137.4(SPG11):c.7322T>C (p.Leu2441Pro) GRCh37: Chr15:44855329 GRCh38: Chr15:44563131	SPG11	L2441P, L2328P	Hereditary spastic paraplegia 11	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 169474115.	NM_025137.4(SPG11):c.7321C>A (p.Leu2441Ile) GRCh37: Chr15:44855330 GRCh38: Chr15:44563132	SPG11	L2328I, L2441I	not provided	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 135520416.	NM_025137.4(SPG11):c.7320G>A (p.Met2440Ile) GRCh37: Chr15:44855331 GRCh38: Chr15:44563133	SPG11	M2327I, M2440I	Hereditary spastic paraplegia 11	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 105917917.	NM_025137.4(SPG11):c.7318A>C (p.Met2440Leu) GRCh37: Chr15:44855333 GRCh38: Chr15:44563135	SPG11	M2327L, M2440L	Hereditary spastic paraplegia 11	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 134410518.	NM_025137.4(SPG11):c.7317C>T (p.Asp2439=) GRCh37: Chr15:44855334 GRCh38: Chr15:44563136	SPG11		Hereditary spastic paraplegia	Uncertain significance (Dec 12, 2016)	criteria provided, single submitter
Select item 84380619.	NM_025137.4(SPG11):c.7313A>G (p.Lys2438Arg) GRCh37: Chr15:44855338 GRCh38: Chr15:44563140	SPG11	K2325R, K2438R	Hereditary spastic paraplegia 11	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 175822720.	NM_025137.4(SPG11):c.7307G>A (p.Cys2436Tyr) GRCh37: Chr15:44855344 GRCh38: Chr15:44563146	SPG11	C2388Y, C2436Y, C2323Y	Inborn genetic diseases	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 211256721.	NM_025137.4(SPG11):c.7302T>G (p.Gly2434=) GRCh37: Chr15:44855349 GRCh38: Chr15:44563151	SPG11		Hereditary spastic paraplegia 11	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 114394922.	NM_025137.4(SPG11):c.7302T>C (p.Gly2434=) GRCh37: Chr15:44855349 GRCh38: Chr15:44563151	SPG11		Hereditary spastic paraplegia 11	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 144561523.	NM_025137.4(SPG11):c.7301G>C (p.Gly2434Ala) GRCh37: Chr15:44855350 GRCh38: Chr15:44563152	SPG11	G2321A, G2434A	Inborn genetic diseases, Hereditary spastic paraplegia 11	Uncertain significance (Jan 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97130124.	NM_025137.4(SPG11):c.7300G>A (p.Gly2434Ser) GRCh37: Chr15:44855351 GRCh38: Chr15:44563153	SPG11	G2321S, G2434S	Hereditary spastic paraplegia 11	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105235325.	NM_025137.4(SPG11):c.7292dup (p.Gln2432fs) GRCh37: Chr15:44855358-44855359 GRCh38: Chr15:44563160-44563161	SPG11	Q2319fs, Q2432fs	Hereditary spastic paraplegia 11	Uncertain significance (May 7, 2021)	criteria provided, single submitter
Select item 95854826.	NM_025137.4(SPG11):c.7276G>A (p.Val2426Met) GRCh37: Chr15:44855375 GRCh38: Chr15:44563177	SPG11	V2426M, V2313M	Hereditary spastic paraplegia 11	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 95834327.	NM_025137.4(SPG11):c.7275T>G (p.Asn2425Lys) GRCh37: Chr15:44855376 GRCh38: Chr15:44563178	SPG11	N2312K, N2425K	Inborn genetic diseases, Hereditary spastic paraplegia 11	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95220128.	NM_025137.4(SPG11):c.7270G>A (p.Val2424Ile) GRCh37: Chr15:44855381 GRCh38: Chr15:44563183	SPG11	V2311I, V2424I	Hereditary spastic paraplegia 11, Inborn genetic diseases	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 171002429.	NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser) GRCh37: Chr15:44855383 GRCh38: Chr15:44563185	SPG11	I2310S, I2375S, I2423S	Amyotrophic lateral sclerosis type 5, Hereditary spastic paraplegia 11, Inborn genetic diseases	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152095130.	NM_025137.4(SPG11):c.7266A>C (p.Glu2422Asp) GRCh37: Chr15:44855385 GRCh38: Chr15:44563187	SPG11	E2309D, E2422D	Hereditary spastic paraplegia 11	Uncertain significance (Sep 27, 2021)	criteria provided, single submitter
Select item 113809731.	NM_025137.4(SPG11):c.7266A>G (p.Glu2422=) GRCh37: Chr15:44855385 GRCh38: Chr15:44563187	SPG11		Hereditary spastic paraplegia 11	Likely benign (Feb 10, 2020)	criteria provided, single submitter
Select item 160810432.	NM_025137.4(SPG11):c.7263T>C (p.Tyr2421=) GRCh37: Chr15:44855388 GRCh38: Chr15:44563190	SPG11		Hereditary spastic paraplegia 11	Likely benign (Nov 16, 2020)	criteria provided, single submitter
Select item 216625333.	NM_025137.4(SPG11):c.7255_7258dup (p.Phe2420Ter) GRCh37: Chr15:44855392-44855393 GRCh38: Chr15:44563194-44563195	SPG11	F2307, F2420	Hereditary spastic paraplegia 11	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 138279834.	NM_025137.4(SPG11):c.7258T>C (p.Phe2420Leu) GRCh37: Chr15:44855393 GRCh38: Chr15:44563195	SPG11	F2420L, F2307L	Hereditary spastic paraplegia 11	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 88549335.	NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile) GRCh37: Chr15:44855393 GRCh38: Chr15:44563195	SPG11	F2307I, F2420I	Charcot-Marie-Tooth disease axonal type 2X, Amyotrophic lateral sclerosis type 5, Hereditary spastic paraplegia 11	Uncertain significance (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54675036.	NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs) GRCh37: Chr15:44855394-44855395 GRCh38: Chr15:44563196-44563197	SPG11	F2307fs, F2420fs	not provided, Hereditary spastic paraplegia 11	Uncertain significance (Feb 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24159937.	NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) GRCh37: Chr15:44855395 GRCh38: Chr15:44563197	SPG11	K2419R, K2306R	not specified, not provided, Amyotrophic lateral sclerosis, Hereditary spastic paraplegia, Hereditary spastic paraplegia 11	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 155711338.	NM_025137.4(SPG11):c.7254C>T (p.His2418=) GRCh37: Chr15:44855397 GRCh38: Chr15:44563199	SPG11		Hereditary spastic paraplegia 11	Likely benign (May 6, 2021)	criteria provided, single submitter
Select item 46656839.	NM_025137.4(SPG11):c.7253A>G (p.His2418Arg) GRCh37: Chr15:44855398 GRCh38: Chr15:44563200	SPG11	H2418R, H2305R	Hereditary spastic paraplegia 11	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 21963740.	NM_025137.4(SPG11):c.7249_7251delinsCTGTT (p.Glu2417fs) GRCh37: Chr15:44855400-44855402 GRCh38: Chr15:44563202-44563204	SPG11	E2417fs, E2304fs	Hereditary spastic paraplegia 11	Uncertain significance (Jul 28, 2015)	criteria provided, single submitter
Select item 105421441.	NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter) GRCh37: Chr15:44855402 GRCh38: Chr15:44563204	SPG11	E2304, E2417	Hereditary spastic paraplegia 11	Uncertain significance (Feb 10, 2020)	criteria provided, single submitter
Select item 56589242.	NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys) GRCh37: Chr15:44855402 GRCh38: Chr15:44563204	SPG11	E2417K, E2304K	Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2X, Amyotrophic lateral sclerosis type 5, not provided, Hereditary spastic paraplegia 11	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 41399443.	NM_025137.4(SPG11):c.7248C>T (p.Tyr2416=) GRCh37: Chr15:44855403 GRCh38: Chr15:44563205	SPG11		Inborn genetic diseases, Hereditary spastic paraplegia 11	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53489544.	NM_025137.4(SPG11):c.7245A>T (p.Ala2415=) GRCh37: Chr15:44855406 GRCh38: Chr15:44563208	SPG11		Hereditary spastic paraplegia 11, Inborn genetic diseases	Likely benign (Jul 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 40653145.	NM_025137.4(SPG11):c.7244C>A (p.Ala2415Glu) GRCh37: Chr15:44855407 GRCh38: Chr15:44563209	SPG11	A2415E, A2302E	Hereditary spastic paraplegia 11	Uncertain significance (Oct 17, 2016)	criteria provided, single submitter
Select item 200576546.	NM_025137.4(SPG11):c.7240T>C (p.Leu2414=) GRCh37: Chr15:44855411 GRCh38: Chr15:44563213	SPG11		Hereditary spastic paraplegia 11	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 190552147.	NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu) GRCh37: Chr15:44855414 GRCh38: Chr15:44563216	SPG11	K2300E, K2365E, K2413E	not provided, Hereditary spastic paraplegia 11	Uncertain significance (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175782248.	NM_025137.4(SPG11):c.7232_7235dup (p.Tyr2412Ter) GRCh37: Chr15:44855415-44855416 GRCh38: Chr15:44563217-44563218	SPG11	Y2299, Y2412	Inborn genetic diseases	Uncertain significance (Apr 30, 2020)	criteria provided, single submitter
Select item 194136949.	NM_025137.4(SPG11):c.7231T>A (p.Tyr2411Asn) GRCh37: Chr15:44855420 GRCh38: Chr15:44563222	SPG11	Y2363N, Y2411N, Y2298N	Hereditary spastic paraplegia 11	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 192976850.	NM_025137.4(SPG11):c.7228C>T (p.Leu2410=) GRCh37: Chr15:44855423 GRCh38: Chr15:44563225	SPG11		Hereditary spastic paraplegia 11	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 170843051.	NM_025137.4(SPG11):c.7223T>G (p.Val2408Gly) GRCh37: Chr15:44855428 GRCh38: Chr15:44563230	SPG11	V2295G, V2360G, V2408G	See cases	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 88549452.	NM_025137.4(SPG11):c.7222G>A (p.Val2408Ile) GRCh37: Chr15:44855429 GRCh38: Chr15:44563231	SPG11	V2408I, V2295I	Hereditary spastic paraplegia 11	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 66533653.	NM_025137.4(SPG11):c.7201_7218del (p.Leu2401_Glu2406del) GRCh37: Chr15:44855433-44855450 GRCh38: Chr15:44563235-44563252	SPG11		Hereditary spastic paraplegia 11	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 64138454.	NM_025137.4(SPG11):c.7187_7211dup (p.Tyr2404Ter) GRCh37: Chr15:44855439-44855440 GRCh38: Chr15:44563241-44563242	SPG11	Y2291, Y2404	Hereditary spastic paraplegia 11	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 53490855.	NM_025137.4(SPG11):c.7212T>C (p.Tyr2404=) GRCh37: Chr15:44855439 GRCh38: Chr15:44563241	SPG11		Hereditary spastic paraplegia 11, Inborn genetic diseases	Likely benign (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175769356.	NM_025137.4(SPG11):c.7208C>T (p.Thr2403Ile) GRCh37: Chr15:44855443 GRCh38: Chr15:44563245	SPG11	T2290I, T2355I, T2403I	Inborn genetic diseases	Uncertain significance (Nov 8, 2019)	criteria provided, single submitter
Select item 175768257.	NM_025137.4(SPG11):c.7205_7208del (p.Leu2402fs) GRCh37: Chr15:44855443-44855446 GRCh38: Chr15:44563245-44563248	SPG11	L2402fs, L2289fs	Inborn genetic diseases	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 175768758.	NM_025137.4(SPG11):c.7205T>C (p.Leu2402Pro) GRCh37: Chr15:44855446 GRCh38: Chr15:44563248	SPG11	L2354P, L2402P, L2289P	Inborn genetic diseases	Uncertain significance (Feb 24, 2021)	criteria provided, single submitter
Select item 202132159.	NM_025137.4(SPG11):c.7203dup (p.Leu2402fs) GRCh37: Chr15:44855447-44855448 GRCh38: Chr15:44563249-44563250	SPG11	L2289fs, L2402fs	Hereditary spastic paraplegia 11	Uncertain significance (Dec 4, 2021)	criteria provided, single submitter
Select item 31607360.	NM_025137.4(SPG11):c.7203A>G (p.Leu2401=) GRCh37: Chr15:44855448 GRCh38: Chr15:44563250	SPG11		Inborn genetic diseases, Hereditary spastic paraplegia 11	Conflicting interpretations of pathogenicity (Jul 11, 2019)	criteria provided, conflicting interpretations
Select item 64703061.	NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser) GRCh37: Chr15:44855449 GRCh38: Chr15:44563251	SPG11	L2288S, L2401S	not provided, Hereditary spastic paraplegia 11	Uncertain significance (Jan 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22038862.	NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) GRCh37: Chr15:44855454 GRCh38: Chr15:44563256	SPG11		not specified, Hereditary spastic paraplegia 11, Inborn genetic diseases, not provided, Hereditary spastic paraplegia	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 53488763.	NM_025137.4(SPG11):c.7189A>C (p.Asn2397His) GRCh37: Chr15:44855462 GRCh38: Chr15:44563264	SPG11	N2397H, N2284H	Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2X, Amyotrophic lateral sclerosis type 5, Hereditary spastic paraplegia 11	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175756664.	NM_025137.4(SPG11):c.7187A>G (p.Glu2396Gly) GRCh37: Chr15:44855464 GRCh38: Chr15:44563266	SPG11	E2283G, E2348G, E2396G	Inborn genetic diseases	Uncertain significance (Nov 20, 2019)	criteria provided, single submitter
Select item 141230565.	NM_025137.4(SPG11):c.7184T>C (p.Met2395Thr) GRCh37: Chr15:44855467 GRCh38: Chr15:44563269	SPG11	M2282T, M2395T	Hereditary spastic paraplegia 11	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 84313566.	NM_025137.4(SPG11):c.7177A>T (p.Met2393Leu) GRCh37: Chr15:44855474 GRCh38: Chr15:44563276	SPG11	M2280L, M2393L	Hereditary spastic paraplegia 11	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 65185467.	NM_025137.4(SPG11):c.7172C>T (p.Thr2391Ile) GRCh37: Chr15:44855479 GRCh38: Chr15:44563281	SPG11	T2278I, T2391I	Hereditary spastic paraplegia 11	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 135751668.	NM_025137.4(SPG11):c.7169dup (p.Thr2391fs) GRCh37: Chr15:44855481-44855482 GRCh38: Chr15:44563283-44563284	SPG11	T2278fs, T2391fs	Hereditary spastic paraplegia 11	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 216597569.	NM_025137.4(SPG11):c.7168C>T (p.Pro2390Ser) GRCh37: Chr15:44855483 GRCh38: Chr15:44563285	SPG11	P2277S, P2342S, P2390S	Hereditary spastic paraplegia 11	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 147868970.	NM_025137.4(SPG11):c.7166A>G (p.Gln2389Arg) GRCh37: Chr15:44855485 GRCh38: Chr15:44563287	SPG11	Q2389R, Q2276R	Hereditary spastic paraplegia 11	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 83617771.	NM_025137.4(SPG11):c.7164T>A (p.His2388Gln) GRCh37: Chr15:44855487 GRCh38: Chr15:44563289	SPG11	H2275Q, H2388Q	Hereditary spastic paraplegia 11	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 56776872.	NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del) GRCh37: Chr15:44855488-44855490 GRCh38: Chr15:44563290-44563292	SPG11	Q2387del, Q2274del	not specified, not provided, Inborn genetic diseases, Hereditary spastic paraplegia 11	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 150302273.	NM_025137.4(SPG11):c.7162C>A (p.His2388Asn) GRCh37: Chr15:44855489 GRCh38: Chr15:44563291	SPG11	H2275N, H2388N	Hereditary spastic paraplegia 11	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 84402674.	NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs) GRCh37: Chr15:44855489-44855490 GRCh38: Chr15:44563291-44563292	SPG11	H2275fs, H2388fs	Hereditary spastic paraplegia 11	Likely pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 44846975.	NM_025137.4(SPG11):c.7161A>T (p.Gln2387His) GRCh37: Chr15:44855490 GRCh38: Chr15:44563292	SPG11	Q2387H, Q2274H	Inborn genetic diseases, not provided, not specified, Hereditary spastic paraplegia 11	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 4136476.	NM_025137.4(SPG11):c.7158_7159insACAA (p.Gln2387fs) GRCh37: Chr15:44855492-44855493 GRCh38: Chr15:44563294-44563295	SPG11	Q2274fs, Q2387fs	Hereditary spastic paraplegia 11	not provided	no assertion provided
Select item 109573377.	NM_025137.4(SPG11):c.7155T>C (p.Tyr2385=) GRCh37: Chr15:44855496 GRCh38: Chr15:44563298	SPG11		Hereditary spastic paraplegia 11	Likely benign (May 15, 2020)	criteria provided, single submitter
Select item 87217578.	NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter) GRCh37: Chr15:44855496 GRCh38: Chr15:44563298	SPG11	Y2385, Y2272	not provided, Hereditary spastic paraplegia 11	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37863879.	NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) GRCh37: Chr15:44855496 GRCh38: Chr15:44563298	SPG11	Y2385, Y2272	Amyotrophic lateral sclerosis type 5, not provided, Hereditary spastic paraplegia 11	Pathogenic/Likely pathogenic (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138432080.	NM_025137.4(SPG11):c.7153T>C (p.Tyr2385His) GRCh37: Chr15:44855498 GRCh38: Chr15:44563300	SPG11	Y2272H, Y2385H	Hereditary spastic paraplegia 11	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 111581.	NM_025137.4(SPG11):c.7152-1G>C GRCh37: Chr15:44855500 GRCh38: Chr15:44563302	SPG11		Hereditary spastic paraplegia 11	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 175740282.	NM_025137.4(SPG11):c.7152-2A>G GRCh37: Chr15:44855501 GRCh38: Chr15:44563303	SPG11		Hereditary spastic paraplegia 11, Inborn genetic diseases	Pathogenic/Likely pathogenic (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93096983.	NM_025137.4(SPG11):c.7152-6A>G GRCh37: Chr15:44855505 GRCh38: Chr15:44563307	SPG11		Hereditary spastic paraplegia 11	Uncertain significance (Nov 28, 2018)	criteria provided, single submitter
Select item 162013684.	NM_025137.4(SPG11):c.7152-7T>A GRCh37: Chr15:44855506 GRCh38: Chr15:44563308	SPG11		Hereditary spastic paraplegia 11	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 134410485.	NM_025137.4(SPG11):c.7152-9_7152-8insGTTTC GRCh37: Chr15:44855507-44855508 GRCh38: Chr15:44563309-44563310	SPG11		Hereditary spastic paraplegia	Uncertain significance (Dec 12, 2016)	criteria provided, single submitter
Select item 109763486.	NM_025137.4(SPG11):c.7152-8T>G GRCh37: Chr15:44855507 GRCh38: Chr15:44563309	SPG11		Hereditary spastic paraplegia 11	Likely benign (May 30, 2019)	criteria provided, single submitter
Select item 99451087.	NM_025137.4(SPG11):c.7152-14_7152-10dup GRCh37: Chr15:44855508-44855509 GRCh38: Chr15:44563310-44563311	SPG11		Charcot-Marie-Tooth disease axonal type 2X, not specified, Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5, not provided	Benign/Likely benign (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 157329688.	NM_025137.4(SPG11):c.7152-16_7152-15del GRCh37: Chr15:44855514-44855515 GRCh38: Chr15:44563316-44563317	SPG11		Hereditary spastic paraplegia 11	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 133487089.	NM_025137.4(SPG11):c.7152-45A>G GRCh37: Chr15:44855544 GRCh38: Chr15:44563346	SPG11		not specified	Uncertain significance (Mar 28, 2019)	criteria provided, single submitter
Select item 121287290.	NM_025137.4(SPG11):c.7151+302C>T GRCh37: Chr15:44856443 GRCh38: Chr15:44564245	SPG11		not provided	Likely benign (May 24, 2019)	criteria provided, single submitter
Select item 203442491.	NM_025137.4(SPG11):c.7151+19C>G GRCh37: Chr15:44856726 GRCh38: Chr15:44564528	SPG11		Hereditary spastic paraplegia 11	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 88651792.	NM_025137.4(SPG11):c.7151+11A>C GRCh37: Chr15:44856734 GRCh38: Chr15:44564536	SPG11		Hereditary spastic paraplegia 11	Conflicting interpretations of pathogenicity (Jul 14, 2021)	criteria provided, conflicting interpretations
Select item 163654193.	NM_025137.4(SPG11):c.7151+9T>C GRCh37: Chr15:44856736 GRCh38: Chr15:44564538	SPG11		Hereditary spastic paraplegia 11	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 180711894.	NM_025137.3(SPG11):c.7151+4_7151+7dup GRCh37: Chr15:44856737-44856738 GRCh38: Chr15:44564539-44564540	SPG11		Hereditary spastic paraplegia 11, not provided	Conflicting interpretations of pathogenicity (Jul 20, 2022)	criteria provided, conflicting interpretations
Select item 75902895.	NM_025137.4(SPG11):c.7151+8T>C GRCh37: Chr15:44856737 GRCh38: Chr15:44564539	SPG11		Hereditary spastic paraplegia 11	Likely benign (Apr 25, 2018)	criteria provided, single submitter
Select item 4136296.	NM_025137.4(SPG11):c.7151+4_7151+7del GRCh37: Chr15:44856738-44856741 GRCh38: Chr15:44564540-44564543	SPG11		Hereditary spastic paraplegia 11	not provided	no assertion provided
Select item 210783197.	NM_025137.4(SPG11):c.7151+6T>C GRCh37: Chr15:44856739 GRCh38: Chr15:44564541	SPG11		Hereditary spastic paraplegia 11	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 46656798.	NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter) GRCh37: Chr15:44856746 GRCh38: Chr15:44564548	SPG11	K2384, K2271	Hereditary spastic paraplegia 11	Pathogenic/Likely pathogenic (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 200751499.	NM_025137.4(SPG11):c.7146C>A (p.Ser2382=) GRCh37: Chr15:44856750 GRCh38: Chr15:44564552	SPG11		Hereditary spastic paraplegia 11	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 316074100.	NM_025137.4(SPG11):c.7146C>T (p.Ser2382=) GRCh37: Chr15:44856750 GRCh38: Chr15:44564552	SPG11		Inborn genetic diseases, Hereditary spastic paraplegia 11, not provided	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations

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