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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Spastic paraplegia 11, autosomal recessive (C537483)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Arena syndrome (C537428)
..Ataxia, Spastic, 1, Autosomal Dominant (C566993)
..Ataxia, Spastic, 2, Autosomal Recessive (C566969)
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Bahemuka Brown syndrome (C537797)
..Costeff optic atrophy syndrome (C535311)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Fitzsimmons-Guilbert syndrome (C537938)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hereditary spastic paralysis, infantile onset ascending (C537217)
..Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..MAST Syndrome (C565409)
..Mental retardation spasticity ectrodactyly (C537446)
..Nakamura Osame syndrome (C538335)
..Roy Maroteaux Kremp syndrome (C535875)
..Spastic diplegia infantile type (C537481)
..Spastic paraplegia 10, autosomal dominant (C537482)
..Spastic paraplegia 11, autosomal recessive (C537483)
..Spastic paraplegia 12, autosomal dominant (C537484)
..Spastic paraplegia 13, autosomal dominant (C537485)
..Spastic paraplegia 14, autosomal recessive (C537486)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 17 (C536644)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spastic paraplegia 19, autosomal dominant (C536856)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic paraplegia 20, autosomal recessive (C536858)
..Spastic paraplegia 23 (C536859)
..Spastic paraplegia 24 (C536860)
..Spastic paraplegia 25, autosomal recessive (C536861)
..Spastic paraplegia 26, autosomal recessive (C536862)
..Spastic Paraplegia 27, Autosomal Recessive (C563807)
..Spastic paraplegia 29, autosomal dominant (C536863)
..Spastic paraplegia 3, autosomal dominant (C536864)
..Spastic Paraplegia 31, Autosomal Dominant (C565210)
..Spastic Paraplegia 32, Autosomal Recessive (C566983)
..Spastic Paraplegia 33, Autosomal Dominant (C565214)
..Spastic Paraplegia 34, X-Linked (C567465)
..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
..Spastic Paraplegia 36, Autosomal Dominant (C567930)
..Spastic Paraplegia 37, Autosomal Dominant (C567931)
..Spastic Paraplegia 38, Autosomal Dominant (C567349)
..Spastic Paraplegia 39, Autosomal Recessive (C567433)
..Spastic paraplegia 4, autosomal dominant (C536865)
..SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
..Spastic Paraplegia 42, Autosomal Dominant (C567262)
..Spastic Paraplegia 44, Autosomal Recessive (C567707)
..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..Spastic Paraplegia 5a, Autosomal Recessive (C564811)
..Spastic paraplegia 6, autosomal dominant (C536866)
..Spastic Paraplegia 7, Autosomal Recessive (C564599)
..Spastic paraplegia 8, autosomal dominant (C536867)
..Spastic paraplegia 9, autosomal dominant (C536868)
..Spastic Paraplegia And Evans Syndrome (C566652)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic paraplegia neuropathy poikiloderma (C536870)
..Spastic Paraplegia Type 11 (C580453)
..Spastic Paraplegia Type 3a (C580455)
..Spastic Paraplegia Type 4 (C580456)
..Spastic paraplegia type 5A, recessive (C536871)
..Spastic paraplegia type 5B, recessive (C536872)
..Spastic Paraplegia Type 7 (C580457)
..Spastic Paraplegia Type 8 (C580458)
..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..Spastic paraplegia with Kallmann syndrome (C536873)
..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
..Spastic paraplegia with precocious puberty (C536874)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Spastic Paraplegia-50, Autosomal Recessive (C567858)
..Volcke Soekarman syndrome (C537718)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10359

Name:

Spastic paraplegia 11, autosomal recessive

Definition:

Alternative IDs:

OMIM:604360

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/C537483 |C10.574.500.495.820/C537483 |C10.668.829.800.300.820/C537483 |C16.131.666.300.820/C537483 |C16.320.400.375.820/C537483

Synonyms:

HSP-TCC |Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum |Spastic Paraplegia, Autosomal Recessive, with Mental Impairment and Thin Corpus Callosum |SPG11

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537483
MeSH: C537483
OMIM: 604360;

Genes: SPG11;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset
3	HP:0011463	Childhood onset
4	HP:0002518	Abnormal periventricular white matter morphology
5	HP:0001274	Agenesis of corpus callosum
6	HP:0011448	Ankle clonus
7	HP:0001251	Ataxia
8	HP:0003487	Babinski sign
9	HP:0002120	Cerebral cortical atrophy
10	HP:0003380	Decreased number of peripheral myelinated nerve fibers
11	HP:0002314	Degeneration of the lateral corticospinal tracts
12	HP:0007067	Distal peripheral sensory neuropathy
13	HP:0001260	Dysarthria
14	HP:0002015	Dysphagia
15	HP:0000640	Gaze-evoked nystagmus
16	HP:0001347	Hyperreflexia
17	HP:0002079	Hypoplasia of the corpus callosum
18	HP:0002166	Impaired vibration sensation in the lower limbs
19	HP:0001249	Intellectual disability
20	HP:0011449	Knee clonus
21	HP:0007340	Lower limb muscle weakness
22	HP:0002061	Lower limb spasticity
23	HP:0000608	Macular degeneration
24	HP:0001268	Mental deterioration
25	HP:0007178	Motor polyneuropathy
26	HP:0001513	Obesity
27	HP:0001761	Pes cavus
28	HP:0003676	Progressive
29	HP:0000763	Sensory neuropathy
30	HP:0002064	Spastic gait
31	HP:0001258	Spastic paraplegia
32	HP:0001328	Specific learning disability
33	HP:0003393	Thenar muscle atrophy
34	HP:0030051	Tip-toe gait
35	HP:0002839	Urinary bladder sphincter dysfunction
36	HP:0000020	Urinary incontinence
37	HP:0000012	Urinary urgency
38	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_025137.3(SPG11):c.7249_7251delGAAinsCTGTT (p.Glu2417Leufs)	80208	SPG11	Uncertain significance	864622190	RCV000206156;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44855400	44855402	NM_025137.3:c.7249_7251delGAAinsCTGTT	NP_079413.3:p.Glu2417Leufs	NC_000015.9:g.44855400_44855402delTTCinsAACAG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7197G>A (p.Lys2399=)	80208	SPG11	Benign	61732733	RCV000205885;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44855454	44855454	NM_025137.3:c.7197G>A	NP_079413.3:p.Lys2399=	NC_000015.9:g.44855454C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7156_7157insAAAC (p.Gln2387Thrfs)	80208	SPG11	Pathogenic	312262792	RCV000034265;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44855494	44855495	NM_025137.3:c.7156_7157insAAAC	NP_079413.3:p.Gln2387Thrfs	NC_000015.9:g.44855494_44855495insGTTT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7152-1G>C	80208	SPG11	Pathogenic	200079802	RCV000001174;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44855500	44855500	NM_025137.3:c.7152-1G>C		NC_000015.9:g.44855500C>G	OMIM Allelic Variant:610844.0007	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7151+4_7151+7delAGTA	80208	SPG11	Pathogenic	312262791	RCV000034263;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856738	44856741	NM_025137.3:c.7151+4_7151+7delAGTA		NC_000015.9:g.44856738_44856741delTACT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7132T>C (p.Phe2378Leu)	80208	SPG11	Uncertain significance	150571352	RCV000198221;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856764	44856764	NM_025137.3:c.7132T>C	NP_079413.3:p.Phe2378Leu	NC_000015.9:g.44856764A>G	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7115T>A (p.Leu2372Ter)	80208	SPG11	Likely pathogenic	762984907	RCV000196229;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856781	44856781	NM_025137.3:c.7115T>A	NP_079413.3:p.Leu2372Ter	NC_000015.9:g.44856781A>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7101dupT (p.Lys2368Terfs)	80208	SPG11	Pathogenic	312262790	RCV000034262;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856795	44856795	NM_025137.3:c.7101dupT	NP_079413.3:p.Lys2368Terfs	NC_000015.9:g.44856795dupA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7088_7089insATTA (p.Tyr2363Terfs)	80208	SPG11	Pathogenic	312262789	RCV000034261;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856807	44856808	NM_025137.3:c.7088_7089insATTA	NP_079413.3:p.Tyr2363Terfs	NC_000015.9:g.44856807_44856808insTAAT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7069C>T (p.Leu2357Phe)	80208	SPG11	Uncertain significance	139334167	RCV000168351;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856827	44856827	NM_025137.3:c.7069C>T	NP_079413.3:p.Leu2357Phe	NC_000015.9:g.44856827G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7029dupT (p.Val2344Cysfs)	80208	SPG11	Pathogenic	312262788	RCV000034259; RCV000195138;	N	Gene:255,MedGen:C1865864,OMIM:602099; MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856867	44856867	NM_025137.3:c.7029dupT	NP_079413.3:p.Val2344Cysfs	NC_000015.9:g.44856867dupA	OMIM Allelic Variant:610844.0013	C1865864 602099 Amyotrophic lateral sclerosis type 5; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7023C>A (p.Tyr2341Ter)	80208	SPG11	Pathogenic	80338869	RCV000034257;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856873	44856873	NM_025137.3:c.7023C>A	NP_079413.3:p.Tyr2341Ter	NC_000015.9:g.44856873G>A,NC_000015.9:g.44856873G>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7023C>T (p.Tyr2341=)	80208	SPG11	Benign	80338869	RCV000034258;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856873	44856873	NM_025137.3:c.7023C>T	NP_079413.3:p.Tyr2341=	NC_000015.9:g.44856873G>A,NC_000015.9:g.44856873G>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.7000-3_7000-2insGGA	80208	SPG11	Pathogenic	312262787	RCV000034256;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44856898	44856899	NM_025137.3:c.7000-3_7000-2insGGA		NC_000015.9:g.44856898_44856899insTCC	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu)	80208	SPG11	Uncertain significance	747133152	RCV000196399;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44858118	44858119	NM_025137.3:c.6932_6933insGTT	NP_079413.3:p.Thr2311_Met2312insLeu	NC_000015.9:g.44858118_44858119insAAC	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6898_6899delCT (p.Leu2300Alafs)	80208	SPG11	Pathogenic	312262786	RCV000034255;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44858152	44858153	NM_025137.3:c.6898_6899delCT	NP_079413.3:p.Leu2300Alafs	NC_000015.9:g.44858152_44858153delAG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6856C>T (p.Arg2286Ter)	80208	SPG11	Pathogenic	312262785	RCV000034254;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44858195	44858195	NM_025137.3:c.6856C>T	NP_079413.3:p.Arg2286Ter	NC_000015.9:g.44858195G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6843+62C>T	80208	SPG11	Benign	80338870	RCV000034253;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44858353	44858353	NM_025137.3:c.6843+62C>T		NC_000015.9:g.44858353G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6832_6833delAG (p.Ser2278Leufs)	80208	SPG11	Pathogenic	312262784	RCV000034252;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44858425	44858426	NM_025137.3:c.6832_6833delAG	NP_079413.3:p.Ser2278Leufs	NC_000015.9:g.44858425_44858426delCT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6790dupC (p.Leu2264Profs)	80208	SPG11	Pathogenic	312262783	RCV000034251;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44858468	44858468	NM_025137.3:c.6790dupC	NP_079413.3:p.Leu2264Profs	NC_000015.9:g.44858468dupG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6739_6742delGAGT (p.Glu2247Leufs)	80208	SPG11	Pathogenic	312262782	RCV000034249;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44859634	44859637	NM_025137.3:c.6739_6742delGAGT	NP_079413.3:p.Glu2247Leufs	NC_000015.9:g.44859634_44859637delACTC	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6737_6740delTTGA (p.Ile2246Serfs)	80208	SPG11	Pathogenic	312262781	RCV000034248;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44859636	44859639	NM_025137.3:c.6737_6740delTTGA	NP_079413.3:p.Ile2246Serfs	NC_000015.9:g.44859636_44859639delTCAA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5867-3237_6478-451del8323	80208	SPG11	Pathogenic	-1	RCV000034230;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44862154	44870476	NM_025137.3:c.5867-3237_6478-451del8323			-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6477+4A>G	80208	SPG11	Pathogenic	312262780	RCV000034246;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44862719	44862719	NM_025137.3:c.6477+4A>G		NC_000015.9:g.44862719T>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6451delG (p.Ala2151Profs)	80208	SPG11	Pathogenic	312262779	RCV000034245;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44862749	44862749	NM_025137.3:c.6451delG	NP_079413.3:p.Ala2151Profs	NC_000015.9:g.44862749delC	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6224A>G (p.Asn2075Ser)	80208	SPG11	Uncertain significance	140824939	RCV000168174; RCV000194672;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822; MedGen:CN169374	15	44865000	44865000	NM_025137.3:c.6224A>G	NP_079413.3:p.Asn2075Ser	NC_000015.9:g.44865000T>C	-	CN169374 not specified; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6206-1G>C	80208	SPG11	Pathogenic	312262778	RCV000034243;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44865019	44865019	NM_025137.3:c.6206-1G>C		NC_000015.9:g.44865019C>G	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6157G>A (p.Val2053Met)	80208	SPG11	Pathogenic	149003934	RCV000034242;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44865793	44865793	NM_025137.3:c.6157G>A	NP_079413.3:p.Val2053Met	NC_000015.9:g.44865793C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6100C>T (p.Arg2034Ter)	80208	SPG11	Pathogenic	118203963	RCV000001168; RCV000202373;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822; MedGen:CN233345,OMIM:616668	15	44865850	44865850	NM_025137.3:c.6100C>T	NP_079413.3:p.Arg2034Ter	NC_000015.9:g.44865850G>A	OMIM Allelic Variant:610844.0001	CN233345 616668 Charcot-Marie-Tooth disease, axonal type 2X; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6091C>T (p.Arg2031Ter)	80208	SPG11	Pathogenic	147713329	RCV000034241;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44865859	44865859	NM_025137.3:c.6091C>T	NP_079413.3:p.Arg2031Ter	NC_000015.9:g.44865859G>A,NC_000015.9:g.44865859G>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.6091C>G (p.Arg2031Gly)	80208	SPG11	Uncertain significance	147713329	RCV000205403;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44865859	44865859	NM_025137.3:c.6091C>G	NP_079413.3:p.Arg2031Gly		-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5989_5992delCTGT (p.Leu1997Metfs)	80208	SPG11	Pathogenic	312262776	RCV000034236;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44867114	44867117	NM_025137.3:c.5989_5992delCTGT	NP_079413.3:p.Leu1997Metfs	NC_000015.9:g.44867114_44867117delACAG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5992dupT (p.Tyr1998Leufs)	80208	SPG11	Pathogenic	312262777	RCV000034240;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44867114	44867114	NM_025137.3:c.5992dupT	NP_079413.3:p.Tyr1998Leufs	NC_000015.9:g.44867114dupA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5986dupT (p.Cys1996Leufs)	80208	SPG11	Pathogenic	312262775	RCV000034237;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44867120	44867120	NM_025137.3:c.5986dupT	NP_079413.3:p.Cys1996Leufs	NC_000015.9:g.44867120dupA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5977C>T (p.Gln1993Ter)	80208	SPG11	Pathogenic	312262774	RCV000034235;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44867129	44867129	NM_025137.3:c.5977C>T	NP_079413.3:p.Gln1993Ter	NC_000015.9:g.44867129G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5974C>T (p.Arg1992Ter)	80208	SPG11	Pathogenic	200793464	RCV000034234; RCV000194146;	N	Gene:255,MedGen:C1865864,OMIM:602099; MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44867132	44867132	NM_025137.3:c.5974C>T	NP_079413.3:p.Arg1992Ter	NC_000015.9:g.44867132G>A	OMIM Allelic Variant:610844.0011	C1865864 602099 Amyotrophic lateral sclerosis type 5; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5970C>G (p.Tyr1990Ter)	80208	SPG11	Pathogenic	312262773	RCV000034233;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44867136	44867136	NM_025137.3:c.5970C>G	NP_079413.3:p.Tyr1990Ter	NC_000015.9:g.44867136G>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5870C>G (p.Ser1957Ter)	80208	SPG11	Pathogenic	312262772	RCV000034231;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44867236	44867236	NM_025137.3:c.5870C>G	NP_079413.3:p.Ser1957Ter	NC_000015.9:g.44867236G>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5798delC (p.Ala1933Valfs)	80208	SPG11	Pathogenic	312262771	RCV000034229;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876080	44876080	NM_025137.3:c.5798delC	NP_079413.3:p.Ala1933Valfs	NC_000015.9:g.44876080delG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5769delT (p.Ser1923Argfs)	80208	SPG11	Pathogenic	312262770	RCV000034228;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876109	44876109	NM_025137.3:c.5769delT	NP_079413.3:p.Ser1923Argfs	NC_000015.9:g.44876109delA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5703delT (p.His1902Ilefs)	80208	SPG11	Pathogenic	312262769	RCV000034227;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876175	44876175	NM_025137.3:c.5703delT	NP_079413.3:p.His1902Ilefs	NC_000015.9:g.44876175delA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5623C>T (p.Gln1875Ter)	80208	SPG11	Pathogenic	141848292	RCV000001175;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876255	44876255	NM_025137.3:c.5623C>T	NP_079413.3:p.Gln1875Ter	NC_000015.9:g.44876255G>A	OMIM Allelic Variant:610844.0008	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5532_5533delCA (p.Lys1845Valfs)	80208	SPG11	Pathogenic	312262768	RCV000034226;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876345	44876346	NM_025137.3:c.5532_5533delCA	NP_079413.3:p.Lys1845Valfs	NC_000015.9:g.44876345_44876346delTG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5470C>T (p.Arg1824Ter)	80208	SPG11	Pathogenic	312262767	RCV000034225;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876408	44876408	NM_025137.3:c.5470C>T	NP_079413.3:p.Arg1824Ter	NC_000015.9:g.44876408G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5454_5455delAG (p.Glu1819Alafs)	80208	SPG11	Pathogenic	312262764	RCV000034269;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876423	44876424	NM_025137.3:c.5454_5455delAG	NP_079413.3:p.Glu1819Alafs	NC_000015.9:g.44876423_44876424delCT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5410_5411delTG (p.Cys1804Profs)	80208	SPG11	Pathogenic	312262766	RCV000034224;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876467	44876468	NM_025137.3:c.5410_5411delTG	NP_079413.3:p.Cys1804Profs	NC_000015.9:g.44876467_44876468delCA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5399_5402delAGATinsTGGAGGAG (p.Gln1800Leufs)	80208	SPG11	Pathogenic	312262765	RCV000034223;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876476	44876479	NM_025137.3:c.5399_5402delAGATinsTGGAGGAG	NP_079413.3:p.Gln1800Leufs	NC_000015.9:g.44876476_44876479delATCTinsCTCCTCCA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5255delT (p.Phe1752Serfs)	80208	SPG11	Pathogenic	312262763	RCV000034221;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44876623	44876623	NM_025137.3:c.5255delT	NP_079413.3:p.Phe1752Serfs	NC_000015.9:g.44876623delA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.5059G>A (p.Ala1687Thr)	80208	SPG11	Uncertain significance	779161014	RCV000206755;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44877896	44877896	NM_025137.3:c.5059G>A	NP_079413.3:p.Ala1687Thr	NC_000015.9:g.44877896C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.4846C>T (p.Gln1616Ter)	80208	SPG11	Pathogenic	312262762	RCV000034220;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44881510	44881510	NM_025137.3:c.4846C>T	NP_079413.3:p.Gln1616Ter	NC_000015.9:g.44881510G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.4687A>G (p.Arg1563Gly)	80208	SPG11	Likely benign	75430389	RCV000167919;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44884585	44884585	NM_025137.3:c.4687A>G	NP_079413.3:p.Arg1563Gly	NC_000015.9:g.44884585T>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.4668T>A (p.Tyr1556Ter)	80208	SPG11	Pathogenic	312262761	RCV000034219;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44884604	44884604	NM_025137.3:c.4668T>A	NP_079413.3:p.Tyr1556Ter	NC_000015.9:g.44884604A>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.4461_4462delTG (p.Val1488Leufs)	80208	SPG11	Pathogenic	587777921	RCV000034218;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44887630	44887631	NM_025137.3:c.4461_4462delTG	NP_079413.3:p.Val1488Leufs	NC_000015.9:g.44887630_44887631delCA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.4307_4308delAA (p.Gln1436Argfs)	80208	SPG11	Pathogenic	312262759	RCV000034216;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44888407	44888408	NM_025137.3:c.4307_4308delAA	NP_079413.3:p.Gln1436Argfs	NC_000015.9:g.44888407_44888408delTT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.4046T>A (p.Phe1349Tyr)	80208	SPG11	Pathogenic	312262758	RCV000034214;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44889097	44889097	NM_025137.3:c.4046T>A	NP_079413.3:p.Phe1349Tyr	NC_000015.9:g.44889097A>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3988C>G (p.Gln1330Glu)	80208	SPG11	Uncertain significance	375363608	RCV000168212;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44890476	44890476	NM_025137.3:c.3988C>G	NP_079413.3:p.Gln1330Glu	NC_000015.9:g.44890476G>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3741dupA (p.Pro1248Thrfs)	80208	SPG11	Pathogenic	312262757	RCV000034212;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44890980	44890980	NM_025137.3:c.3741dupA	NP_079413.3:p.Pro1248Thrfs	NC_000015.9:g.44890980dupT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3719_3720delTA (p.Ile1240Argfs)	80208	SPG11	Pathogenic	312262756	RCV000034211;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44891001	44891002	NM_025137.3:c.3719_3720delTA	NP_079413.3:p.Ile1240Argfs	NC_000015.9:g.44891001_44891002delTA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3664_3665insT (p.Lys1222Ilefs)	80208	SPG11	Pathogenic	312262755	RCV000034210;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44892686	44892687	NM_025137.3:c.3664_3665insT	NP_079413.3:p.Lys1222Ilefs	NC_000015.9:g.44892686_44892687insA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3602_3603delAT (p.Tyr1201Leufs)	80208	SPG11	Pathogenic	312262754	RCV000034209;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44892748	44892749	NM_025137.3:c.3602_3603delAT	NP_079413.3:p.Tyr1201Leufs	NC_000015.9:g.44892748_44892749delAT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.(?_-1)_3520+?del	80208	SPG11	Likely pathogenic	-1	RCV000168058;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44898223	44955846	NM_025137.3:c.(?_-1)_3520+?del			-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3420G>A (p.Leu1140=)	80208	SPG11	Benign;Likely benign	36014111	RCV000034206; RCV000118404;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822; MedGen:CN169374	15	44900675	44900675	NM_025137.3:c.3420G>A	NP_079413.3:p.Leu1140=	NC_000015.9:g.44900675C>T	-	CN169374 not specified; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3291+1G>T	80208	SPG11	Pathogenic	312262753	RCV000034205;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44903037	44903037	NM_025137.3:c.3291+1G>T		NC_000015.9:g.44903037C>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3146-6T>G	80208	SPG11	Likely benign	777849932	RCV000196201;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44903189	44903189	NM_025137.3:c.3146-6T>G		NC_000015.9:g.44903189A>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3075dupA (p.Glu1026Argfs)	80208	SPG11	Pathogenic	312262752	RCV000001176;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44905698	44905698	NM_025137.3:c.3075dupA	NP_079413.3:p.Glu1026Argfs	NC_000015.9:g.44905698dupT	OMIM Allelic Variant:610844.0009	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3037A>G (p.Lys1013Glu)	80208	SPG11	Benign	111347025	RCV000204165; RCV000175101;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822; MedGen:CN169374	15	44907562	44907562	NM_025137.3:c.3037A>G	NP_079413.3:p.Lys1013Glu	NC_000015.9:g.44907562T>C	-	CN169374 not specified; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.3023A>C (p.Tyr1008Ser)	80208	SPG11	Uncertain significance	776158206	RCV000204927;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44907576	44907576	NM_025137.3:c.3023A>C	NP_079413.3:p.Tyr1008Ser	NC_000015.9:g.44907576T>G	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2887A>C (p.Arg963=)	80208	SPG11	Likely benign	150689014	RCV000200120;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44907712	44907712	NM_025137.3:c.2887A>C	NP_079413.3:p.Arg963=	NC_000015.9:g.44907712T>G	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2877C>A (p.Cys959Ter)	80208	SPG11	Likely pathogenic;Pathogenic	786204176	RCV000168213; RCV000171235;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822; MedGen:CN221809	15	44907722	44907722	NM_025137.3:c.2877C>A	NP_079413.3:p.Cys959Ter	NC_000015.9:g.44907722G>T	-	CN221809 not provided; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2849dupT (p.Leu950Phefs)	80208	SPG11	Pathogenic	-1	RCV000034202;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44907750	44907750	NM_025137.3:c.2849dupT	NP_079413.3:p.Leu950Phefs		-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2842dupG (p.Val948Glyfs)	80208	SPG11	Pathogenic	312262750	RCV000034201;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44907757	44907757	NM_025137.3:c.2842dupG	NP_079413.3:p.Val948Glyfs	NC_000015.9:g.44907757dupC	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2834+1G>T	80208	SPG11	Pathogenic	312262749	RCV000034200;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44912387	44912387	NM_025137.3:c.2834+1G>T		NC_000015.9:g.44912387C>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2833A>G (p.Arg945Gly)	80208	SPG11	Pathogenic	312262748	RCV000034199;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44912389	44912389	NM_025137.3:c.2833A>G	NP_079413.3:p.Arg945Gly	NC_000015.9:g.44912389T>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2716delC (p.Gln906Serfs)	80208	SPG11	Pathogenic	312262747	RCV000034198;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44912506	44912506	NM_025137.3:c.2716delC	NP_079413.3:p.Gln906Serfs	NC_000015.9:g.44912506delG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2697G>A (p.Trp899Ter)	80208	SPG11	Pathogenic	312262746	RCV000034197;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44912525	44912525	NM_025137.3:c.2697G>A	NP_079413.3:p.Trp899Ter	NC_000015.9:g.44912525C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2608A>G (p.Ile870Val)	80208	SPG11	Pathogenic	312262745	RCV000034194;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44913969	44913969	NM_025137.3:c.2608A>G	NP_079413.3:p.Ile870Val	NC_000015.9:g.44913969T>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2472_2473insT (p.Lys825Terfs)	80208	SPG11	Pathogenic	312262744	RCV000001172;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44914104	44914105	NM_025137.3:c.2472_2473insT	NP_079413.3:p.Lys825Terfs	NC_000015.9:g.44914104_44914105insA	OMIM Allelic Variant:610844.0005	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2444+1G>C	80208	SPG11	Pathogenic	312262743	RCV000034191;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44914417	44914417	NM_025137.3:c.2444+1G>C		NC_000015.9:g.44914417C>G	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2444G>T (p.Arg815Met)	80208	SPG11	Pathogenic	312262742	RCV000034192;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44914418	44914418	NM_025137.3:c.2444G>T	NP_079413.3:p.Arg815Met	NC_000015.9:g.44914418C>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2355_2356delAG (p.Arg788Asnfs)	80208	SPG11	Pathogenic	312262741	RCV000034190;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44914506	44914507	NM_025137.3:c.2355_2356delAG	NP_079413.3:p.Arg788Asnfs	NC_000015.9:g.44914506_44914507delCT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2331delA (p.Glu778Lysfs)	80208	SPG11	Pathogenic	863224524	RCV000196838;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44914531	44914531	NM_025137.3:c.2331delA	NP_079413.3:p.Glu778Lysfs	NC_000015.9:g.44914531delT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2316+1G>A	80208	SPG11	Pathogenic	312262740	RCV000034189;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44914925	44914925	NM_025137.3:c.2316+1G>A		NC_000015.9:g.44914925C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2198T>G (p.Leu733Ter)	80208	SPG11	Pathogenic	312262739	RCV000034188; RCV000192703;	N	Gene:255,MedGen:C1865864,OMIM:602099; MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44918575	44918575	NM_025137.3:c.2198T>G	NP_079413.3:p.Leu733Ter	NC_000015.9:g.44918575A>C	OMIM Allelic Variant:610844.0012	C1865864 602099 Amyotrophic lateral sclerosis type 5; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2163dupT (p.Ile722Tyrfs)	80208	SPG11	Pathogenic	312262738	RCV000034187;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44918610	44918610	NM_025137.3:c.2163dupT	NP_079413.3:p.Ile722Tyrfs	NC_000015.9:g.44918610dupA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2146C>T (p.Gln716Ter)	80208	SPG11	Pathogenic	312262737	RCV000034186;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44918627	44918627	NM_025137.3:c.2146C>T	NP_079413.3:p.Gln716Ter	NC_000015.9:g.44918627G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.2083G>A (p.Ala695Thr)	80208	SPG11	Benign	78183930	RCV000204648;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44918690	44918690	NM_025137.3:c.2083G>A	NP_079413.3:p.Ala695Thr	NC_000015.9:g.44918690C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1951C>T (p.Arg651Ter)	80208	SPG11	Pathogenic	199588440	RCV000034185;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44920983	44920983	NM_025137.3:c.1951C>T	NP_079413.3:p.Arg651Ter	NC_000015.9:g.44920983G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1845_1846delGT (p.Ser616Phefs)	80208	SPG11	Pathogenic	312262736	RCV000034184;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44921476	44921477	NM_025137.3:c.1845_1846delGT	NP_079413.3:p.Ser616Phefs	NC_000015.9:g.44921476_44921477delAC	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1837_1838insA (p.Leu613Hisfs)	80208	SPG11	Pathogenic	312262735	RCV000034183;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44921484	44921485	NM_025137.3:c.1837_1838insA	NP_079413.3:p.Leu613Hisfs	NC_000015.9:g.44921484_44921485insT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1753C>T (p.Pro585Ser)	80208	SPG11	Uncertain significance	863224795	RCV000199951;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44921569	44921569	NM_025137.3:c.1753C>T	NP_079413.3:p.Pro585Ser	NC_000015.9:g.44921569G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1735+3_1735+6delAAGT	80208	SPG11	Pathogenic	312262734	RCV000034182;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44925697	44925700	NM_025137.3:c.1735+3_1735+6delAAGT		NC_000015.9:g.44925697_44925700delACTT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1697_1712del16insTACTCCCAT (p.Asp566Valfs)	80208	SPG11	Pathogenic	-1	RCV000034181;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44925726	44925741	NM_025137.3:c.1697_1712del16insTACTCCCAT	NP_079413.3:p.Asp566Valfs		dbVar:nssv3761602,dbVar:nsv1067895	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1698T>G (p.Asp566Glu)	80208	SPG11	Benign	79708848	RCV000206327;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44925740	44925740	NM_025137.3:c.1698T>G	NP_079413.3:p.Asp566Glu	NC_000015.9:g.44925740A>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1679C>G (p.Ser560Ter)	80208	SPG11	Pathogenic	312262732	RCV000034180;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44925759	44925759	NM_025137.3:c.1679C>G	NP_079413.3:p.Ser560Ter	NC_000015.9:g.44925759G>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1668delT (p.Phe556Leufs)	80208	SPG11	Pathogenic	312262731	RCV000034179;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44925770	44925770	NM_025137.3:c.1668delT	NP_079413.3:p.Phe556Leufs	NC_000015.9:g.44925770delA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1603-139G=	80208	SPG11	Benign	80338872	RCV000034177;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44925974	44925974	NM_025137.3:c.1603-139G=		NC_000015.9:g.44925974Cx3d	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1603-141C=	80208	SPG11	Benign	80338871	RCV000034178;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44925976	44925976	NM_025137.3:c.1603-141C=		NC_000015.9:g.44925976Gx3d	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1550_1551delTT (p.Cys518Serfs)	80208	SPG11	Pathogenic	312262730	RCV000034176;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44941115	44941116	NM_025137.3:c.1550_1551delTT	NP_079413.3:p.Cys518Serfs	NC_000015.9:g.44941115_44941116delAA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1549_1550delCT (p.Cys518Serfs)	80208	SPG11	Pathogenic	312262729	RCV000034175;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44941116	44941117	NM_025137.3:c.1549_1550delCT	NP_079413.3:p.Cys518Serfs	NC_000015.9:g.44941116_44941117delAG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1492C>T (p.Gln498Ter)	80208	SPG11	Pathogenic	312262728	RCV000034301;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44941174	44941174	NM_025137.3:c.1492C>T	NP_079413.3:p.Gln498Ter	NC_000015.9:g.44941174G>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1471_1472delCT (p.Leu491Aspfs)	80208	SPG11	Pathogenic	312262727	RCV000034174;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44941194	44941195	NM_025137.3:c.1471_1472delCT	NP_079413.3:p.Leu491Aspfs	NC_000015.9:g.44941194_44941195delAG	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1457-2A>G	80208	SPG11	Pathogenic	312262726	RCV000034173;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44941211	44941211	NM_025137.3:c.1457-2A>G		NC_000015.9:g.44941211T>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1388T>C (p.Phe463Ser)	80208	SPG11	Benign;Likely benign	3759871	RCV000034172; RCV000118403;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822; MedGen:CN169374	15	44943757	44943757	NM_025137.3:c.1388T>C	NP_079413.3:p.Phe463Ser	NC_000015.9:g.44943757A>G	-	CN169374 not specified; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1347_1348invCA (p.Ile450Tyrfs)	80208	SPG11	Benign	-1	RCV000168088;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44943797	44943798	NM_025137.3:c.1347_1348invCA	NP_079413.3:p.Ile450Tyrfs		-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1282A>T (p.Lys428Ter)	80208	SPG11	Pathogenic	312262724	RCV000034171;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44943863	44943863	NM_025137.3:c.1282A>T	NP_079413.3:p.Lys428Ter	NC_000015.9:g.44943863T>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1270C>A (p.Pro424Thr)	80208	SPG11	Uncertain significance	141596008	RCV000185539;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44943875	44943875	NM_025137.3:c.1270C>A	NP_079413.3:p.Pro424Thr	NC_000015.9:g.44943875G>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1235C>G (p.Ser412Ter)	80208	SPG11	Pathogenic	312262723	RCV000034170;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44943910	44943910	NM_025137.3:c.1235C>G	NP_079413.3:p.Ser412Ter	NC_000015.9:g.44943910G>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1203delA (p.Asp402Ilefs)	80208	SPG11	Pathogenic	312262722	RCV000034169;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44943942	44943942	NM_025137.3:c.1203delA	NP_079413.3:p.Asp402Ilefs	NC_000015.9:g.44943942delT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.1108G>A (p.Glu370Lys)	80208	SPG11	Benign	77697105	RCV000206555;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44944037	44944037	NM_025137.3:c.1108G>A	NP_079413.3:p.Glu370Lys	NC_000015.9:g.44944037C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.869+1G>A	80208	SPG11	Pathogenic	312262721	RCV000034268;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44949292	44949292	NM_025137.3:c.869+1G>A		NC_000015.9:g.44949292C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.808G>A (p.Val270Ile)	80208	SPG11	Benign	80338868	RCV000034267;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44949354	44949354	NM_025137.3:c.808G>A	NP_079413.3:p.Val270Ile	NC_000015.9:g.44949354C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs)	80208	SPG11	Pathogenic	312262720	RCV000001171; RCV000193699;	N	Gene:255,MedGen:C1865864,OMIM:602099; MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44949428	44949429	NM_025137.3:c.733_734delAT	NP_079413.3:p.Met245Valfs	NC_000015.9:g.44949428_44949429delAT	OMIM Allelic Variant:610844.0004	C1865864 602099 Amyotrophic lateral sclerosis type 5; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.733A>G (p.Met245Val)	80208	SPG11	Uncertain significance	863224796	RCV000200810;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44949429	44949429	NM_025137.3:c.733A>G	NP_079413.3:p.Met245Val	NC_000015.9:g.44949429T>C	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.704_705delAT (p.His235Argfs)	80208	SPG11	Pathogenic	312262719	RCV000034260;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44949457	44949458	NM_025137.3:c.704_705delAT	NP_079413.3:p.His235Argfs	NC_000015.9:g.44949457_44949458delAT	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.654_655delTTinsG (p.Ser218Argfs)	80208	SPG11	Pathogenic	312262718	RCV000034247;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44951289	44951290	NM_025137.3:c.654_655delTTinsG	NP_079413.3:p.Ser218Argfs	NC_000015.9:g.44951289_44951290delAAinsC	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.642delT (p.Phe214Leufs)	80208	SPG11	Pathogenic	312262717	RCV000034244;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44951302	44951302	NM_025137.3:c.642delT	NP_079413.3:p.Phe214Leufs	NC_000015.9:g.44951302delA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.529_533delATATT (p.Ile177Serfs)	80208	SPG11	Pathogenic	312262716	RCV000001169; RCV000202378;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822; MedGen:CN233345,OMIM:616668	15	44951411	44951415	NM_025137.3:c.529_533delATATT	NP_079413.3:p.Ile177Serfs	NC_000015.9:g.44951411_44951415delAATAT	OMIM Allelic Variant:610844.0002	CN233345 616668 Charcot-Marie-Tooth disease, axonal type 2X; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.442+1G>C	80208	SPG11	Pathogenic	312262715	RCV000001173;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44952629	44952629	NM_025137.3:c.442+1G>C		NC_000015.9:g.44952629C>G	OMIM Allelic Variant:610844.0006	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.408_428del21 (p.Glu136_Ile142del)	80208	SPG11	Pathogenic	312262714	RCV000034215;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44952644	44952664	NM_025137.3:c.408_428del21	NP_079413.3:p.Glu136_Ile142del	NC_000015.9:g.44952644_44952664del21	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.398delG (p.Cys133Leufs)	80208	SPG11	Pathogenic	312262713	RCV000034213;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44952674	44952674	NM_025137.3:c.398delG	NP_079413.3:p.Cys133Leufs	NC_000015.9:g.44952674delC	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.359delT (p.Leu120Terfs)	80208	SPG11	Pathogenic	312262712	RCV000034208;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44952713	44952713	NM_025137.3:c.359delT	NP_079413.3:p.Leu120Terfs	NC_000015.9:g.44952713delA	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.349G>T (p.Glu117Ter)	80208	SPG11	Pathogenic	312262711	RCV000034207;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44952723	44952723	NM_025137.3:c.349G>T	NP_079413.3:p.Glu117Ter	NC_000015.9:g.44952723C>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.268G>T (p.Glu90Ter)	80208	SPG11	Pathogenic	312262710	RCV000034196;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44952804	44952804	NM_025137.3:c.268G>T	NP_079413.3:p.Glu90Ter	NC_000015.9:g.44952804C>A	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.267G>A (p.Trp89Ter)	80208	SPG11	Pathogenic	312262709	RCV000034195; RCV000194703;	N	Gene:255,MedGen:C1865864,OMIM:602099; MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44952805	44952805	NM_025137.3:c.267G>A	NP_079413.3:p.Trp89Ter	NC_000015.9:g.44952805C>T	OMIM Allelic Variant:610844.0010	C1865864 602099 Amyotrophic lateral sclerosis type 5; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.177T>A (p.Ala59=)	80208	SPG11	Likely benign	750527049	RCV000205802;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44955669	44955669	NM_025137.3:c.177T>A	NP_079413.3:p.Ala59=	NC_000015.9:g.44955669A>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.118C>T (p.Gln40Ter)	80208	SPG11	Pathogenic	267607084	RCV000001170; RCV000193032; RCV000202382;	N	Gene:255,MedGen:C1865864,OMIM:602099; MedGen:C1858479,OMIM:604360,ORPHA:2822; MedGen:CN233345,OMIM:616668	15	44955728	44955728	NM_025137.3:c.118C>T	NP_079413.3:p.Gln40Ter	NC_000015.9:g.44955728G>A	OMIM Allelic Variant:610844.0003	C1865864 602099 Amyotrophic lateral sclerosis type 5; CN233345 616668 Charcot-Marie-Tooth disease, axonal type 2X; C1858479 604360 Spastic paraplegia 11, autosomal recessive
NM_025137.3(SPG11):c.16G>A (p.Gly6Arg)	80208	SPG11	Uncertain significance	200573434	RCV000198031;	N	MedGen:C1858479,OMIM:604360,ORPHA:2822	15	44955830	44955830	NM_025137.3:c.16G>A	NP_079413.3:p.Gly6Arg	NC_000015.9:g.44955830C>T	-	C1858479 604360 Spastic paraplegia 11, autosomal recessive