80208[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572170	NC_000015.10:g.44330225_44821972dup	B2M, CTDSPL2 +21 more	Duplication	See cases	GUncertain significance
Select item 316067	NM_003758.4(EIF3J):c.1574_1578dup	SPG11, EIF3J	Duplication (3 prime UTR variant)	Spastic Paraplegia, Recessive	GUncertain significance
Select item 885492	NM_003758.4(EIF3J):c.*1584T>G	EIF3J, SPG11	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 316068	NM_003758.4(EIF3J):c.1601_1604dup	EIF3J, SPG11	Duplication (3 prime UTR variant)	Spastic Paraplegia, Recessive	GUncertain significance
Select item 316069	NM_003758.4(EIF3J):c.*1652G>A	EIF3J, SPG11	Single nucleotide variant (3 prime UTR variant)	Spastic Paraplegia, Recessive	GUncertain significance
Select item 316070	NM_025137.4(SPG11):c.*299G>T	SPG11	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 316071	NM_025137.4(SPG11):c.*243A>G	SPG11	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 316072	NM_025137.4(SPG11):c.*241C>G	SPG11	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3046341	NM_025137.4(SPG11):c.*3G>A	SPG11	Single nucleotide variant (3 prime UTR variant)	SPG11-related condition	GLikely benign
Select item 1687152	NM_025137.4(SPG11):c.7321_7328del (p.Ala2442fs)	SPG11 (A2329fs +1 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 534847	NM_025137.4(SPG11):c.7326del (p.Gly2443fs)	SPG11 (G2443fs +1 more)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 1514539	NM_025137.4(SPG11):c.7325C>T (p.Ala2442Val)	SPG11 (A2329V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 582538	NM_025137.4(SPG11):c.7324G>A (p.Ala2442Thr)	SPG11 (A2442T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 573436	NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro)	SPG11 (A2442P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 583286	NM_025137.4(SPG11):c.7322T>C (p.Leu2441Pro)	SPG11 (L2441P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1694741	NM_025137.4(SPG11):c.7321C>A (p.Leu2441Ile)	SPG11 (L2328I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355204	NM_025137.4(SPG11):c.7320G>A (p.Met2440Ile)	SPG11 (M2327I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1059179	NM_025137.4(SPG11):c.7318A>C (p.Met2440Leu)	SPG11 (M2327L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1344105	NM_025137.4(SPG11):c.7317C>T (p.Asp2439=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 843806	NM_025137.4(SPG11):c.7313A>G (p.Lys2438Arg)	SPG11 (K2325R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2824769	NM_025137.4(SPG11):c.7311A>G (p.Leu2437=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1758227	NM_025137.4(SPG11):c.7307G>A (p.Cys2436Tyr)	SPG11 (C2388Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2112567	NM_025137.4(SPG11):c.7302T>G (p.Gly2434=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1143949	NM_025137.4(SPG11):c.7302T>C (p.Gly2434=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1445615	NM_025137.4(SPG11):c.7301G>C (p.Gly2434Ala)	SPG11 (G2321A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 971301	NM_025137.4(SPG11):c.7300G>A (p.Gly2434Ser)	SPG11 (G2321S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1052353	NM_025137.4(SPG11):c.7292dup (p.Gln2432fs)	SPG11 (Q2319fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2784141	NM_025137.4(SPG11):c.7281T>G (p.Leu2427=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 958548	NM_025137.4(SPG11):c.7276G>A (p.Val2426Met)	SPG11 (V2426M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 958343	NM_025137.4(SPG11):c.7275T>G (p.Asn2425Lys)	SPG11 (N2312K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 952201	NM_025137.4(SPG11):c.7270G>A (p.Val2424Ile)	SPG11 (V2311I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1710024	NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)	SPG11 (I2310S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +2 more	GUncertain significance
Select item 1520951	NM_025137.4(SPG11):c.7266A>C (p.Glu2422Asp)	SPG11 (E2309D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1138097	NM_025137.4(SPG11):c.7266A>G (p.Glu2422=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1608104	NM_025137.4(SPG11):c.7263T>C (p.Tyr2421=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2166253	NM_025137.4(SPG11):c.7255_7258dup (p.Phe2420Ter)	SPG11 (F2307* +1 more)	Duplication (nonsense +1 more)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1382798	NM_025137.4(SPG11):c.7258T>C (p.Phe2420Leu)	SPG11 (F2420L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 885493	NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)	SPG11 (F2307I +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 546750	NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs)	SPG11 (F2307fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 241599	NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	SPG11 (K2419R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1557113	NM_025137.4(SPG11):c.7254C>T (p.His2418=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 466568	NM_025137.4(SPG11):c.7253A>G (p.His2418Arg)	SPG11 (H2418R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 219637	NM_025137.4(SPG11):c.7249_7251delinsCTGTT (p.Glu2417fs)	SPG11 (E2417fs +1 more)	Indel (frameshift variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1054214	NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter)	SPG11 (E2304* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11 +1 more	GUncertain significance
Select item 565892	NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)	SPG11 (E2417K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GConflicting classifications of pathogenicity
Select item 413994	NM_025137.4(SPG11):c.7248C>T (p.Tyr2416=)	SPG11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 534895	NM_025137.4(SPG11):c.7245A>T (p.Ala2415=)	SPG11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 406531	NM_025137.4(SPG11):c.7244C>A (p.Ala2415Glu)	SPG11 (A2415E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2005765	NM_025137.4(SPG11):c.7240T>C (p.Leu2414=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1905521	NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu)	SPG11 (K2300E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1757822	NM_025137.4(SPG11):c.7232_7235dup (p.Tyr2412Ter)	SPG11 (Y2299* +1 more)	Duplication (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1941369	NM_025137.4(SPG11):c.7231T>A (p.Tyr2411Asn)	SPG11 (Y2363N +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1929768	NM_025137.4(SPG11):c.7228C>T (p.Leu2410=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1708430	NM_025137.4(SPG11):c.7223T>G (p.Val2408Gly)	SPG11 (V2295G +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 885494	NM_025137.4(SPG11):c.7222G>A (p.Val2408Ile)	SPG11 (V2408I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2997860	NM_025137.4(SPG11):c.7221T>C (p.Asp2407=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 665336	NM_025137.4(SPG11):c.7201_7218del (p.Leu2401_Glu2406del)	SPG11	Deletion (inframe_deletion)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 641384	NM_025137.4(SPG11):c.7187_7211dup (p.Tyr2404Ter)	SPG11 (Y2291* +1 more)	Duplication (nonsense)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 534908	NM_025137.4(SPG11):c.7212T>C (p.Tyr2404=)	SPG11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1757693	NM_025137.4(SPG11):c.7208C>T (p.Thr2403Ile)	SPG11 (T2290I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1757682	NM_025137.4(SPG11):c.7205_7208del (p.Leu2402fs)	SPG11 (L2402fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 1757687	NM_025137.4(SPG11):c.7205T>C (p.Leu2402Pro)	SPG11 (L2354P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2021321	NM_025137.4(SPG11):c.7203dup (p.Leu2402fs)	SPG11 (L2289fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 316073	NM_025137.4(SPG11):c.7203A>G (p.Leu2401=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11 +1 more	GConflicting classifications of pathogenicity
Select item 647030	NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser)	SPG11 (L2288S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 220388	NM_025137.4(SPG11):c.7197G>A (p.Lys2399=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 534887	NM_025137.4(SPG11):c.7189A>C (p.Asn2397His)	SPG11 (N2397H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1757566	NM_025137.4(SPG11):c.7187A>G (p.Glu2396Gly)	SPG11 (E2283G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1412305	NM_025137.4(SPG11):c.7184T>C (p.Met2395Thr)	SPG11 (M2282T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 843135	NM_025137.4(SPG11):c.7177A>T (p.Met2393Leu)	SPG11 (M2280L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 651854	NM_025137.4(SPG11):c.7172C>T (p.Thr2391Ile)	SPG11 (T2278I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1357516	NM_025137.4(SPG11):c.7169dup (p.Thr2391fs)	SPG11 (T2278fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2165975	NM_025137.4(SPG11):c.7168C>T (p.Pro2390Ser)	SPG11 (P2277S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1478689	NM_025137.4(SPG11):c.7166A>G (p.Gln2389Arg)	SPG11 (Q2389R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 836177	NM_025137.4(SPG11):c.7164T>A (p.His2388Gln)	SPG11 (H2275Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 567768	NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del)	SPG11 (Q2387del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1503022	NM_025137.4(SPG11):c.7162C>A (p.His2388Asn)	SPG11 (H2275N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 844026	NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs)	SPG11 (H2275fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 448469	NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)	SPG11 (Q2387H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 3168998	NM_025137.4(SPG11):c.7156A>G (p.Lys2386Glu)	SPG11 (K2273E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1095733	NM_025137.4(SPG11):c.7155T>C (p.Tyr2385=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 872175	NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter)	SPG11 (Y2385* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11 +1 more	GPathogenic
Select item 378638	NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)	SPG11 (Y2385* +1 more)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 5 +2 more	GPathogenic/Likely pathogenic
Select item 1384320	NM_025137.4(SPG11):c.7153T>C (p.Tyr2385His)	SPG11 (Y2272H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
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 1757402	NM_025137.4(SPG11):c.7152-2A>G	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 11 +1 more	GPathogenic/Likely pathogenic
Select item 930969	NM_025137.4(SPG11):c.7152-6A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GConflicting classifications of pathogenicity
Select item 1620136	NM_025137.4(SPG11):c.7152-7T>A	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1344104	NM_025137.4(SPG11):c.7152-9_7152-8insGTTTC	SPG11	Insertion (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1097634	NM_025137.4(SPG11):c.7152-8T>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 994510	NM_025137.4(SPG11):c.7152-14_7152-10dup	SPG11	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GBenign/Likely benign
Select item 2720828	NM_025137.4(SPG11):c.7152-10C>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2703271	NM_025137.4(SPG11):c.7152-16_7152-14dup	SPG11	Duplication (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1573296	NM_025137.4(SPG11):c.7152-16_7152-15del	SPG11	Deletion (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2782656	NM_025137.4(SPG11):c.7152-17T>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2724394	NM_025137.4(SPG11):c.7152-19A>C	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1334870	NM_025137.4(SPG11):c.7152-45A>G	SPG11	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1212872	NM_025137.4(SPG11):c.7151+302C>T	SPG11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034424	NM_025137.4(SPG11):c.7151+19C>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign

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