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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Spastic paraplegia 4, autosomal dominant (C536865)
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) L: 00496;
..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 43, AUTOSOMAL RECESSIVE (OMIM:615043)
..Spastic Paraplegia 44, Autosomal Recessive (C567707)
..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
..SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
..SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
..SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
..SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
..SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
..SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
..Spastic Paraplegia 5a, Autosomal Recessive (C564811)
..Spastic paraplegia 6, autosomal dominant (C536866)
..SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
..SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
..SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
..SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
..Spastic Paraplegia 7, Autosomal Recessive (C564599) L: 00497;
..SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
..SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
..SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
..SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
..SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
..SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
..SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
..SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
..Spastic paraplegia 9, autosomal dominant (C536868)
..SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
..Spastic Paraplegia And Evans Syndrome (C566652)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic paraplegia neuropathy poikiloderma (C536870)
..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,ClinVar, CTD

Term ID:

11407

Name:

Spastic paraplegia 4, autosomal dominant

Definition:

Alternative IDs:

OMIM:182601

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/C536865 |C10.574.500.495.820/C536865 |C10.668.829.800.300.820/C536865 |C16.131.666.300.820/C536865 |C16.320.400.375.820/C536865

Synonyms:

Autosomal dominant, spastic paraplegia 4 |Familial spastic paraplegia autosomal dominant 2 |Familial Spastic Paraplegia, Autosomal Dominant, 2 |FSP2 |SPG4

Slim Mappings:

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

Reference:

MedGen: C536865
MeSH: C536865
OMIM: 182601;
MSeqDR :
Genes: SPAST;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003587	Insidious onset
3	HP:0000718	Aggressive behavior
4	HP:0000713	Agitation
5	HP:0000741	Apathy
6	HP:0003487	Babinski sign
7	HP:0002314	Degeneration of the lateral corticospinal tracts
8	HP:0000726	Dementia NAMDC: Dementia
9	HP:0000716	Depressivity NAMDC: Depression
10	HP:0000734	Disinhibition
11	HP:0003743	Genetic anticipation
12	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
13	HP:0002166	Impaired vibration sensation in the lower limbs
14	HP:0001249	Intellectual disability
15	HP:0003419	Low back pain
16	HP:0007340	Lower limb muscle weakness
17	HP:0002354	Memory impairment
18	HP:0000639	Nystagmus
19	HP:0010550	Paraplegia
20	HP:0003676	Progressive
21	HP:0002064	Spastic gait
22	HP:0001258	Spastic paraplegia
23	HP:0002839	Urinary bladder sphincter dysfunction
24	HP:0000020	Urinary incontinence
25	HP:0000012	Urinary urgency
26	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000090.4(COL3A1):c.898-1G>A	1281	COL3A1	Likely pathogenic	-1	RCV003314535;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	189856394	189856394		-
Single allele	-1	DPY30;LOC129933452;LOC129933453;LOC129933454;LOC12	Pathogenic	-1	RCV000203498;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32263919	32333722	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_021870.3(FGG):c.1201C>T (p.Arg401Trp)	2266	FGG	Pathogenic	-1	RCV003314519;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	4	155526147	155526147		-
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	2778	GNAS	Pathogenic	137854532	RCV000017286\|RCV001729350\|RCV002054444\|RCV002288507;	N	Human Phenotype Ontology:HP:0000852,MONDO:MONDO:0019992,MedGen:C0033806, Orphanet:79443, Orphanet:97593\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580, Orphanet:79443	20	57480498	57480498	20:g.57480498C>T	ClinGen:CA126062,OMIM:139320.0007	C0033806 103580 Pseudohypoparathyroidism;
Single allele	-1	LOC129388840;LOC129933456;SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203492;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32321557	32422090	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	LOC129933453;LOC129933454;LOC129933455;DPY30;LOC12	Pathogenic	-1	RCV000203484;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32260443	32347688	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	LOC129933454;LOC129933455;SPAST	Pathogenic	-1	RCV000203495;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32274911	32291246	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	LOC129933454;LOC129933455;SPAST	Pathogenic	-1	RCV000203453;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32282760	32303254	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	LOC129933454;LOC129933455;SPAST	Pathogenic	-1	RCV000203466;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32282852	32295403	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.12:g.32063148_32067182del	-1	LOC129933454;LOC129933455;SPAST	Pathogenic	-1	RCV000203460;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288216	32292250		ClinGen:CA339677	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	LOC129933455;SPAST	Pathogenic	-1	RCV000203467;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288708	32305196	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	NLRC4;SLC30A6;SLC30A6-DT;LOC129388840;LOC129933456	Pathogenic	-1	RCV000203489;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32302047	32472162	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)	84295	PHF6	Pathogenic	132630300	RCV000011817\|RCV002286694\|RCV002512974;	N	MONDO:MONDO:0010537,MedGen:C0265339,OMIM:301900, Orphanet:127\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	X	133511649	133511649	X:g.133511649T>C	ClinGen:CA121334,OMIM:300414.0006	C0265339 301900 Borjeson-Forssman-Lehmann syndrome;
Single allele	-1	SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203469;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372832	32390406	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203483;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32313171	32408919	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203451;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32342697	32403350	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203464;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32347622	32392375	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203480;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370423	32402099	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203459;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372803	32396866	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203486;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372815	32398557	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203474;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32378643	32403264	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;SLC30A6-DT;SPAST	Pathogenic	-1	RCV000203463;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32378673	32397052	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	SLC30A6;YIPF4;BIRC6;NLRC4;SPAST	Pathogenic	-1	RCV000203468;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362824	32817794	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.11:g.(?_31558824)_(32481844_?)dup	6683	SPAST	Uncertain significance	-1	RCV001871077;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	31558824	32481844	-1	-
NC_000002.12:g.(?_32063611)_(32064246_?)del	6683	SPAST	Pathogenic	-1	RCV000468729;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288680	32289315		-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.-220G>T	6683	SPAST	Uncertain significance	886055957	RCV000306285;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288681	32288681	NC_000002.11:g.32288681G>T	ClinGen:CA10613699	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.-168G>A	6683	SPAST	Uncertain significance	886055959	RCV000271147;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288733	32288733	NC_000002.11:g.32288733G>A	ClinGen:CA10615301	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.-112_415+1779del	6683	SPAST	Pathogenic	-1	RCV000006028;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288788	32291093	NC_000002.11:g.32288789_32291094del	ClinGen:CA325517,dbVar:nssv7487202,OMIM:604277.0019	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.-90C>A	6683	SPAST	Uncertain significance	1380704736	RCV001138623;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288811	32288811	2:g.32288811C>A	-
NM_014946.4(SPAST):c.-41C>T	6683	SPAST	Likely benign	374327295	RCV000366975\|RCV000605161;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN169374	2	32288860	32288860	NC_000002.11:g.32288860C>T	ClinGen:CA1600442	CN169374 not specified;
NC_000002.12:g.(?_32063812)_(32064266_?)del	6683	SPAST	Pathogenic	-1	RCV000708151;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288881	32289335		-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.12:g.(?_32063822)_(32064256_?)del	6683	SPAST	Pathogenic	-1	RCV001032214;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288891	32289325	-1	-
NC_000002.12:g.(?_32063822)_(32089615_?)del	6683	SPAST	Pathogenic	-1	RCV001031458;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288891	32314684	-1	-
NC_000002.12:g.(?_32063822)_(32154506_?)del	6683	SPAST	Pathogenic	-1	RCV001033807;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288891	32379575	-1	-
NC_000002.11:g.(?_32288891)_(32341291_?)del	6683	SPAST	Pathogenic	-1	RCV001382183;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288891	32341291	-1	-
NM_014946.4(SPAST):c.-7G>A	6683	SPAST	Uncertain significance	376165443	RCV000276579\|RCV001848691;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32288894	32288894	NC_000002.11:g.32288894G>A	ClinGen:CA1600448	CN239430 Spastic paraplegia, autosomal dominant;
NC_000002.12:g.(?_32063826)_(32087584_?)del	6683	SPAST	Pathogenic	-1	RCV000258051;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288895	32312653		-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.12:g.(?_32063826)_(32098897_?)del	6683	SPAST	Pathogenic	-1	RCV001032525;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288895	32323966	-1	-
NC_000002.11:g.(?_32288901)_(32362257_32366973)del	6683	SPAST	Pathogenic	-1	RCV001391358;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288901	32366973	-1	-
NC_000002.11:g.(?_32288901)_(32379565_?)del	6683	SPAST	Pathogenic	-1	RCV001951151;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288901	32379565	-1	-
NC_000002.11:g.(?_32288901)_(32323980_?)del	6683	SPAST	Pathogenic	-1	RCV001958649;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288901	32323980	-1	-
NC_000002.11:g.(?_32288901)_(32362277_?)dup	6683	SPAST	Uncertain significance	-1	RCV001871078;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288901	32362277	-1	-
NC_000002.11:g.(?_32288901)_(32289335_?)dup	6683	SPAST	Uncertain significance	-1	RCV003116807;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288901	32289335		-
NC_000002.11:g.(?_32288901)_(32339914_?)dup	6683	SPAST	Uncertain significance	-1	RCV003119450;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288901	32339914		-
NC_000002.11:g.(?_32288901)_(32341301_?)del	6683	SPAST	Pathogenic	-1	RCV003119454;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288901	32341301		-
NM_014946.4(SPAST):c.3G>C (p.Met1Ile)	6683	SPAST	Uncertain significance	-1	RCV002598340;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288903	32288903	NC_000002.11:g.32288903G>C	-
NM_014946.4(SPAST):c.6_7del (p.Pro4fs)	6683	SPAST	Pathogenic	1553394366	RCV000550986;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288906	32288907	NC_000002.11:g.32288906_32288907del	ClinGen:CA658657013	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.11C>G (p.Pro4Arg)	6683	SPAST	Uncertain significance	-1	RCV002933161;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288911	32288911	NC_000002.11:g.32288911C>G	-
NM_014946.4(SPAST):c.12G>T (p.Pro4=)	6683	SPAST	Likely benign	-1	RCV002595917;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288912	32288912		-
NM_014946.4(SPAST):c.17G>A (p.Gly6Glu)	6683	SPAST	Uncertain significance	-1	RCV003063839;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288917	32288917	NC_000002.11:g.32288917G>A	-
NM_014946.4(SPAST):c.19C>A (p.Arg7=)	6683	SPAST	Conflicting interpretations of pathogenicity	779449573	RCV000426065\|RCV002056663;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288919	32288919	2:g.32288919C>A	ClinGen:CA1600454	CN169374 not specified;
NM_014946.4(SPAST):c.20G>C (p.Arg7Pro)	6683	SPAST	Uncertain significance	750900931	RCV001897865;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288920	32288920	32288920	-
NM_014946.4(SPAST):c.20G>T (p.Arg7Leu)	6683	SPAST	Uncertain significance	750900931	RCV001931590;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288920	32288920	32288920	-
NM_014946.4(SPAST):c.26A>G (p.Lys9Arg)	6683	SPAST	Uncertain significance	-1	RCV003112608;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288926	32288926	NC_000002.11:g.32288926A>G	-
NM_014946.4(SPAST):c.27G>A (p.Lys9=)	6683	SPAST	Likely benign	-1	RCV002575170;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288927	32288927		-
NM_014946.4(SPAST):c.30G>A (p.Lys10=)	6683	SPAST	Conflicting interpretations of pathogenicity	768928614	RCV001141198\|RCV001847171;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32288930	32288930	2:g.32288930G>A	-
NM_014946.4(SPAST):c.37T>A (p.Ser13Thr)	6683	SPAST	Conflicting interpretations of pathogenicity	781222498	RCV001903520\|RCV002473320;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32288937	32288937	32288937	-
NM_014946.4(SPAST):c.40G>A (p.Gly14Ser)	6683	SPAST	Uncertain significance	-1	RCV002975576;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288940	32288940	NC_000002.11:g.32288940G>A	-
NM_014946.4(SPAST):c.51C>G (p.Ser17Arg)	6683	SPAST	Likely benign	1303074496	RCV001936355;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288951	32288951	32288951	-
NM_014946.4(SPAST):c.55C>T (p.Pro19Ser)	6683	SPAST	Uncertain significance	372349942	RCV000317684;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288955	32288955	NC_000002.11:g.32288955C>T	ClinGen:CA10615118	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.60G>T (p.Val20=)	6683	SPAST	Likely benign	752272987	RCV001464837;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288960	32288960	32288960	-
NM_014946.4(SPAST):c.64C>G (p.Pro22Ala)	6683	SPAST	Likely benign	762209469	RCV000863622\|RCV003243356;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MeSH:D030342,MedGen:C0950123	2	32288964	32288964	2:g.32288964C>G	-
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)	6683	SPAST	Pathogenic/Likely pathogenic	1676388641	RCV001293029\|RCV001291565;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32288964	32288965	32288964	-
NM_014946.4(SPAST):c.72_90dup (p.Pro31fs)	6683	SPAST	Pathogenic	886800078	RCV001391342;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288967	32288968	32288967	-
NM_014946.4(SPAST):c.67A>G (p.Arg23Gly)	6683	SPAST	Uncertain significance	-1	RCV002996475;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288967	32288967	NC_000002.11:g.32288967A>G	-
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys)	6683	SPAST	Benign/Likely benign	558882317	RCV000842632\|RCV001521667\|RCV001849131;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32288968	32288968	2:g.32288968G>A	-
NM_014946.4(SPAST):c.70C>T (p.Pro24Ser)	6683	SPAST	Uncertain significance	-1	RCV002740369;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288970	32288970	NC_000002.11:g.32288970C>T	-
NM_014946.4(SPAST):c.73C>G (p.Pro25Ala)	6683	SPAST	Conflicting interpretations of pathogenicity	-1	RCV002577228\|RCV002577227;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288973	32288973	NC_000002.11:g.32288973C>G	-
NM_014946.4(SPAST):c.75G>A (p.Pro25=)	6683	SPAST	Likely benign	-1	RCV002918884;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288975	32288975		-
NM_014946.4(SPAST):c.78C>T (p.Pro26=)	6683	SPAST	Likely benign	-1	RCV002995040;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288978	32288978		-
NM_014946.4(SPAST):c.80C>T (p.Pro27Leu)	6683	SPAST	Uncertain significance	1361493550	RCV001066648;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288980	32288980	2:g.32288980C>T	-
NM_014946.4(SPAST):c.83G>C (p.Cys28Ser)	6683	SPAST	Uncertain significance	1676390484	RCV001238954;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288983	32288983	2:g.32288983G>C	-
NM_014946.4(SPAST):c.93dup (p.Ala32fs)	6683	SPAST	Pathogenic	1676391139	RCV001211769;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288988	32288989	2:g.32288988_32288989insC	-
NM_014946.4(SPAST):c.89C>T (p.Ala30Val)	6683	SPAST	Uncertain significance	781516235	RCV000814318;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288989	32288989	2:g.32288989C>T	-
NM_014946.4(SPAST):c.102_122dup (p.Pro41_Pro42insAlaAlaGlyProAlaProPro)	6683	SPAST	Uncertain significance	-1	RCV002795003\|RCV002795002;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288993	32288994	NC_000002.11:g.32289002_32289022dup	-
NM_014946.4(SPAST):c.97C>T (p.Pro33Ser)	6683	SPAST	Uncertain significance	-1	RCV003112961;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288997	32288997	NC_000002.11:g.32288997C>T	-
NM_014946.4(SPAST):c.99T>A (p.Pro33=)	6683	SPAST	Likely benign	1573027124	RCV000941458;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32288999	32288999	2:g.32288999T>A	-
NM_014946.4(SPAST):c.101C>T (p.Pro34Leu)	6683	SPAST	Uncertain significance	771019519	RCV001342255;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289001	32289001	32289001	-
NM_014946.4(SPAST):c.109G>C (p.Gly37Arg)	6683	SPAST	Conflicting interpretations of pathogenicity	771455657	RCV001507556\|RCV001882543;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289009	32289009	32289009	-
NM_014946.4(SPAST):c.113dup (p.Ala39fs)	6683	SPAST	Pathogenic	-1	RCV003336688;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289011	32289012		-
NM_014946.4(SPAST):c.113C>G (p.Pro38Arg)	6683	SPAST	Uncertain significance	1041662261	RCV000464226;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289013	32289013	NC_000002.11:g.32289013C>G	ClinGen:CA16610961	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.113C>T (p.Pro38Leu)	6683	SPAST	Uncertain significance	1041662261	RCV001141199;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289013	32289013	2:g.32289013C>T	-
NM_014946.4(SPAST):c.117C>G (p.Ala39=)	6683	SPAST	Likely benign	-1	RCV002649740;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289017	32289017		-
NM_014946.4(SPAST):c.119C>T (p.Pro40Leu)	6683	SPAST	Likely benign	-1	RCV002970878;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289019	32289019	NC_000002.11:g.32289019C>T	-
NM_014946.4(SPAST):c.124C>G (p.Pro42Ala)	6683	SPAST	Uncertain significance	-1	RCV003020010;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289024	32289024	NC_000002.11:g.32289024C>G	-
NM_014946.4(SPAST):c.126C>G (p.Pro42=)	6683	SPAST	Likely benign	755151658	RCV001419362;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289026	32289026	2:g.32289026C>G	-
NM_014946.4(SPAST):c.127G>T (p.Glu43Ter)	6683	SPAST	Pathogenic	573642949	RCV000461473;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289027	32289027	NC_000002.11:g.32289027G>T	ClinGen:CA16610962	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)	6683	SPAST	Conflicting interpretations of pathogenicity	542793579	RCV001141200;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289029	32289029	2:g.32289029G>C	-
NM_014946.4(SPAST):c.129G>A (p.Glu43=)	6683	SPAST	Likely benign	-1	RCV003063397;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289029	32289029		-
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	6683	SPAST	Benign/Likely benign; other; risk factor	121908515	RCV000006025\|RCV000197924\|RCV000368675\|RCV000440604\|RCV001794433\|RCV001847587;	N	\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32289031	32289031	2:g.32289031C>T	ClinGen:CA117669,UniProtKB:Q9UBP0#VAR_010194,OMIM:604277.0015	CN517202 not provided;
NM_014946.4(SPAST):c.132G>T (p.Ser44=)	6683	SPAST	Likely benign	-1	RCV003086821;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289032	32289032		-
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)	6683	SPAST	Conflicting interpretations of pathogenicity	121908517	RCV000006026\|RCV000584902\|RCV000845266\|RCV001847588;	N	\|MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32289034	32289034	2:g.32289034C>A	ClinGen:CA117671,UniProtKB:Q9UBP0#VAR_027205,OMIM:604277.0017	CN517202 not provided;
NM_014946.4(SPAST):c.135G>A (p.Pro45=)	6683	SPAST	Likely benign	757100197	RCV001471972;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289035	32289035	32289035	-
NM_014946.4(SPAST):c.137A>G (p.His46Arg)	6683	SPAST	Benign/Likely benign	778952334	RCV001141201;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289037	32289037	2:g.32289037A>G	-
NM_014946.4(SPAST):c.142C>T (p.Arg48Trp)	6683	SPAST	Uncertain significance	-1	RCV003069485;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289042	32289042	NC_000002.11:g.32289042C>T	-
NM_014946.4(SPAST):c.152A>G (p.Tyr51Cys)	6683	SPAST	Uncertain significance	1356486929	RCV001036951;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289052	32289052	2:g.32289052A>G	-
NM_014946.4(SPAST):c.153C>G (p.Tyr51Ter)	6683	SPAST	Pathogenic	1462628095	RCV001874649;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289053	32289053	32289053	-
NM_014946.4(SPAST):c.156T>G (p.Tyr52Ter)	6683	SPAST	Pathogenic	1553394497	RCV000644885;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289056	32289056	NC_000002.11:g.32289056T>G	ClinGen:CA346601502	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.157T>C (p.Phe53Leu)	6683	SPAST	Uncertain significance	200029938	RCV001143041;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289057	32289057	2:g.32289057T>C	-
NM_014946.4(SPAST):c.157T>G (p.Phe53Val)	6683	SPAST	Likely benign	200029938	RCV001237012;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289057	32289057	2:g.32289057T>G	-
NM_014946.4(SPAST):c.161C>G (p.Ser54Cys)	6683	SPAST	Uncertain significance	-1	RCV002874391\|RCV003140180\|RCV003427618;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|	2	32289061	32289061	NC_000002.11:g.32289061C>G	-
NM_014946.4(SPAST):c.164A>C (p.Tyr55Ser)	6683	SPAST	Uncertain significance	-1	RCV002756945;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289064	32289064	NC_000002.11:g.32289064A>C	-
NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)	6683	SPAST	Pathogenic	368951498	RCV001381114;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289065	32289065	32289065	-
NM_014946.4(SPAST):c.165C>T (p.Tyr55=)	6683	SPAST	Likely benign	368951498	RCV002076028;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289065	32289065	32289065	-
NM_014946.4(SPAST):c.166_175del (p.Tyr55_Pro56insTer)	6683	SPAST	Pathogenic	1553394509	RCV000644902;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289066	32289075	2:g.32289066_32289075del	ClinGen:CA658795705	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.167C>T (p.Pro56Leu)	6683	SPAST	Uncertain significance	1676399509	RCV001848158\|RCV002034742;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289067	32289067	32289067	-
NM_014946.4(SPAST):c.168G>A (p.Pro56=)	6683	SPAST	Likely benign	-1	RCV002917734;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289068	32289068		-
NM_014946.4(SPAST):c.171G>C (p.Leu57=)	6683	SPAST	Likely benign	1057523187	RCV000434644\|RCV002522451;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289071	32289071	2:g.32289071G>C	ClinGen:CA16604471	CN169374 not specified;
NM_014946.4(SPAST):c.179G>A (p.Gly60Asp)	6683	SPAST	Uncertain significance	1558605758	RCV000688664\|RCV001766473;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32289079	32289079	2:g.32289079G>A	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.185dup (p.Leu63fs)	6683	SPAST	Likely pathogenic	-1	RCV002283645;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289084	32289085	32289084	-
NM_014946.4(SPAST):c.188TGC[3] (p.Leu64_Arg65insLeu)	6683	SPAST	Uncertain significance	-1	RCV002837821;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289085	32289086	NC_000002.11:g.32289088TGC[3]	-
NM_014946.4(SPAST):c.189G>C (p.Leu63=)	6683	SPAST	Likely benign	-1	RCV002791409;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289089	32289089		-
NC_000002.11:g.(32289091_32312562)_(32958959_32999928)del	6683	SPAST	Likely pathogenic	-1	RCV001269482;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289091	32999928	-1	-
NM_014946.4(SPAST):c.198G>C (p.Leu66Phe)	6683	SPAST	Uncertain significance	2148685510	RCV001371432;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289098	32289098	32289098	-
NM_014946.4(SPAST):c.199_202delinsATCC (p.Val67_Ala68delinsIlePro)	6683	SPAST	Uncertain significance	1558605777	RCV000706158;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289099	32289102	NC_000002.11:g.32289099_32289102delinsATCC	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.211C>T (p.Leu71=)	6683	SPAST	Likely benign	2148685540	RCV002071791;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289111	32289111	32289111	-
NM_014946.4(SPAST):c.212del (p.Leu71fs)	6683	SPAST	Pathogenic	2148685545	RCV001904887;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289112	32289112	32289111	-
NM_014946.4(SPAST):c.219C>T (p.Leu73=)	6683	SPAST	Likely benign	-1	RCV002725338;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289119	32289119		-
NM_014946.4(SPAST):c.222C>T (p.Leu74=)	6683	SPAST	Likely benign	372332499	RCV002539074;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289122	32289122	2:g.32289122C>T	-
NM_014946.4(SPAST):c.225_226insCAC (p.Phe75_Val76insHis)	6683	SPAST	Uncertain significance	-1	RCV002290090;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289124	32289125	32289124	-
NM_014946.4(SPAST):c.225C>A (p.Phe75Leu)	6683	SPAST	Likely benign	-1	RCV002730090;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289125	32289125	NC_000002.11:g.32289125C>A	-
NM_014946.4(SPAST):c.226G>T (p.Val76Leu)	6683	SPAST	Uncertain significance	-1	RCV003138611;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289126	32289126	NC_000002.11:g.32289126G>T	-
NM_014946.4(SPAST):c.232C>G (p.Leu78Val)	6683	SPAST	Uncertain significance	1558605868	RCV000705513;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289132	32289132	2:g.32289132C>G	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.237C>A (p.Cys79Ter)	6683	SPAST	Pathogenic	-1	RCV002871697;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289137	32289137	NC_000002.11:g.32289137C>A	-
NM_014946.4(SPAST):c.243C>G (p.Arg81=)	6683	SPAST	Benign/Likely benign	146956762	RCV000864962\|RCV002064509;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289143	32289143	2:g.32289143C>G	-
NM_014946.4(SPAST):c.243C>A (p.Arg81=)	6683	SPAST	Likely benign	-1	RCV002575374;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289143	32289143		-
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys)	6683	SPAST	Uncertain significance	776114823	RCV001064054;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289150	32289150	2:g.32289150C>T	-
NM_014946.4(SPAST):c.259_260del (p.Met87fs)	6683	SPAST	Pathogenic	2148685612	RCV001950805;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289159	32289160	32289158	-
NM_014946.4(SPAST):c.269A>G (p.Lys90Arg)	6683	SPAST	Uncertain significance	-1	RCV002574330;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289169	32289169	NC_000002.11:g.32289169A>G	-
NM_014946.4(SPAST):c.277T>G (p.Ser93Ala)	6683	SPAST	Uncertain significance	-1	RCV002644409;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289177	32289177	NC_000002.11:g.32289177T>G	-
NM_014946.4(SPAST):c.280G>A (p.Gly94Arg)	6683	SPAST	Uncertain significance	750218565	RCV000693603;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289180	32289180	2:g.32289180G>A	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.280G>C (p.Gly94Arg)	6683	SPAST	Uncertain significance	750218565	RCV001871292;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289180	32289180	32289180	-
NM_014946.4(SPAST):c.284C>T (p.Ala95Val)	6683	SPAST	Uncertain significance	780016543	RCV001320575;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289184	32289184	32289184	-
NM_014946.4(SPAST):c.285C>G (p.Ala95=)	6683	SPAST	Likely benign	754540160	RCV002166558;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289185	32289185	32289185	-
NM_014946.4(SPAST):c.285C>T (p.Ala95=)	6683	SPAST	Likely benign	754540160	RCV002105591;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289185	32289185	32289185	-
NM_014946.4(SPAST):c.286del (p.Ala96fs)	6683	SPAST	Pathogenic	1573028017	RCV000824386\|RCV001849127;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32289186	32289186	2:g.32289186_32289186del	-
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr)	6683	SPAST	Benign/Likely benign	372005558	RCV000205409\|RCV001722121;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32289189	32289189	2:g.32289189C>A	ClinGen:CA349578,UniProtKB:Q9UBP0#VAR_067628	CN169374 not specified;
NM_014946.4(SPAST):c.296_415+198del	6683	SPAST	Likely pathogenic	2148685676	RCV002033014;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289192	32289509	32289191	-
NM_014946.4(SPAST):c.293C>T (p.Ala98Val)	6683	SPAST	Uncertain significance	-1	RCV003023271;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289193	32289193	NC_000002.11:g.32289193C>T	-
NM_014946.4(SPAST):c.301TCGGCC[3] (p.Ala104_Pro105insSerAla)	6683	SPAST	Uncertain significance	-1	RCV003092391;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289197	32289198	NC_000002.11:g.32289201TCGGCC[3]	-
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)	6683	SPAST	Pathogenic/Likely pathogenic	746263735	RCV001233082\|RCV001291596;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32289202	32289202	2:g.32289202C>A	-
NM_014946.4(SPAST):c.302C>T (p.Ser101Leu)	6683	SPAST	Uncertain significance	746263735	RCV001233634\|RCV002567885;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MeSH:D030342,MedGen:C0950123	2	32289202	32289202	2:g.32289202C>T	-
NM_014946.4(SPAST):c.303G>T (p.Ser101=)	6683	SPAST	Likely benign	1232419017	RCV001446916;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289203	32289203	32289203	-
NM_014946.4(SPAST):c.303G>A (p.Ser101=)	6683	SPAST	Likely benign	-1	RCV002811875;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289203	32289203		-
NM_014946.4(SPAST):c.306C>T (p.Ala102=)	6683	SPAST	Likely benign	-1	RCV002608474;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289206	32289206		-
NM_014946.4(SPAST):c.312_317dup (p.104AP[3])	6683	SPAST	Uncertain significance	747993450	RCV000785134;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289207	32289208	2:g.32289207_32289208insCGGCCC	-
NM_014946.4(SPAST):c.312_317del (p.104AP[1])	6683	SPAST	Uncertain significance	-1	RCV003022102;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289208	32289213	NC_000002.11:g.32289212_32289217del	-
NM_014946.4(SPAST):c.314del (p.Pro105fs)	6683	SPAST	Likely pathogenic	2148685718	RCV001530403;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289211	32289211	32289210	-
NM_014946.4(SPAST):c.312C>T (p.Ala104=)	6683	SPAST	Likely benign	1198003195	RCV002090884;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289212	32289212	32289212	-
NM_014946.4(SPAST):c.315G>A (p.Pro105=)	6683	SPAST	Uncertain significance	761254257	RCV001962082;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289215	32289215	32289215	-
NM_014946.4(SPAST):c.317C>T (p.Ala106Val)	6683	SPAST	Uncertain significance	1385218846	RCV001887866;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289217	32289217	32289217	-
NM_014946.4(SPAST):c.320C>T (p.Pro107Leu)	6683	SPAST	Uncertain significance	776858496	RCV000818185;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289220	32289220	2:g.32289220C>T	-
NM_014946.4(SPAST):c.328_340del (p.Gly110fs)	6683	SPAST	Pathogenic	1410418105	RCV000644894;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289224	32289236	NC_000002.11:g.32289228_32289240del	ClinGen:CA658795702	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.326C>G (p.Pro109Arg)	6683	SPAST	Uncertain significance	-1	RCV003088126;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289226	32289226	NC_000002.11:g.32289226C>G	-
NM_014946.4(SPAST):c.327G>A (p.Pro109=)	6683	SPAST	Likely benign	-1	RCV003084344;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289227	32289227		-
NM_014946.4(SPAST):c.334G>T (p.Glu112Ter)	6683	SPAST	Pathogenic/Likely pathogenic	1553394603	RCV000627250\|RCV001243896;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289234	32289234	2:g.32289234G>T	ClinGen:CA346602318	CN517202 not provided;
NM_014946.4(SPAST):c.339C>T (p.Ala113=)	6683	SPAST	Likely benign	-1	RCV002646457;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289239	32289239		-
NM_014946.4(SPAST):c.340G>T (p.Glu114Ter)	6683	SPAST	Pathogenic	1553394608	RCV001960327;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289240	32289240	32289240	-
NM_014946.4(SPAST):c.344_353dup (p.Phe119fs)	6683	SPAST	Pathogenic	1558606204	RCV000685607;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289243	32289244	2:g.32289243_32289244insGCGTCCGAGT	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.343C>T (p.Arg115Cys)	6683	SPAST	Uncertain significance	1272546651	RCV001196040;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289243	32289243	2:g.32289243C>T	-
NM_014946.4(SPAST):c.360C>T (p.His120=)	6683	SPAST	Likely benign	-1	RCV002578777;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289260	32289260		-
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)	6683	SPAST	Pathogenic/Likely pathogenic	1553394620	RCV001848165\|RCV002543370;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289261	32289261	32289261	-
NM_014946.4(SPAST):c.369C>T (p.Ala123=)	6683	SPAST	Likely benign	959239665	RCV002085042;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289269	32289269	32289269	-
NM_014946.4(SPAST):c.377A>T (p.Tyr126Phe)	6683	SPAST	Uncertain significance	781065348	RCV001935551;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289277	32289277	32289277	-
NM_014946.4(SPAST):c.377A>G (p.Tyr126Cys)	6683	SPAST	Likely benign	-1	RCV002998659;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289277	32289277	NC_000002.11:g.32289277A>G	-
NM_014946.4(SPAST):c.379A>G (p.Ile127Val)	6683	SPAST	Uncertain significance	1395313104	RCV001992041;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289279	32289279	32289279	-
NM_014946.4(SPAST):c.390_391delinsGGT (p.Leu131fs)	6683	SPAST	Pathogenic	1060502230	RCV000460629;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289290	32289291	NC_000002.11:g.32289290_32289291delinsGGT	ClinGen:CA16610759	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.390C>G (p.Ala130=)	6683	SPAST	Likely benign	-1	RCV002636438;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289290	32289290		-
NM_014946.4(SPAST):c.391C>T (p.Leu131=)	6683	SPAST	Likely benign	1440932106	RCV002539240;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289291	32289291	2:g.32289291C>T	-
NM_014946.4(SPAST):c.397A>G (p.Ile133Val)	6683	SPAST	Uncertain significance	-1	RCV003138610;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289297	32289297	NC_000002.11:g.32289297A>G	-
NM_014946.4(SPAST):c.410del (p.Glu137fs)	6683	SPAST	Pathogenic	1060502229	RCV000477009;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289310	32289310	NC_000002.11:g.32289310del	ClinGen:CA16610746	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.415+1G>A	6683	SPAST	Pathogenic	1057521135	RCV001960331;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289316	32289316	32289316	-
NM_014946.4(SPAST):c.415+1G>C	6683	SPAST	Pathogenic	-1	RCV002839415;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289316	32289316	NC_000002.11:g.32289316G>C	-
NM_014946.4(SPAST):c.415+12G>A	6683	SPAST	Benign/Likely benign	539075273	RCV000610166\|RCV002062882;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289327	32289327	2:g.32289327G>A	ClinGen:CA1600565	CN169374 not specified;
NM_014946.4(SPAST):c.415+12G>C	6683	SPAST	Likely benign	539075273	RCV002169262;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289327	32289327	32289327	-
NM_014946.4(SPAST):c.415+17G>T	6683	SPAST	Likely benign	748969302	RCV000609660\|RCV002531568;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32289332	32289332	2:g.32289332G>T	ClinGen:CA1600566	CN169374 not specified;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203499;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32291779	32357195	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203449;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32291802	32364656	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203472;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32302137	32351058	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203481;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32308157	32341651	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203473;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32308541	32367923	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.11:g.(?_32312541)_(32341301_?)del	6683	SPAST	Pathogenic	-1	RCV003119455;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312541	32341301		-
NM_014946.4(SPAST):c.416-16A>T	6683	SPAST	Likely benign	-1	RCV002770762;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312545	32312545	NC_000002.11:g.32312545A>T	-
NM_014946.4(SPAST):c.416-11T>C	6683	SPAST	Likely benign	-1	RCV002995698;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312550	32312550	NC_000002.11:g.32312550T>C	-
NC_000002.12:g.(?_32087482)_(32116222_?)del	6683	SPAST	Pathogenic	-1	RCV001031863;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312551	32341291	-1	-
NM_014946.4(SPAST):c.421C>T (p.Gln141Ter)	6683	SPAST	Pathogenic	1485703744	RCV000537576;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312566	32312566	2:g.32312566C>T	ClinGen:CA346603062	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.421C>G (p.Gln141Glu)	6683	SPAST	Uncertain significance	-1	RCV002775253;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312566	32312566	NC_000002.11:g.32312566C>G	-
NM_014946.4(SPAST):c.422_425del (p.Gln141fs)	6683	SPAST	Pathogenic	1553399472	RCV000545502;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312567	32312570	2:g.32312567_32312570del	ClinGen:CA658657015	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.423G>A (p.Gln141=)	6683	SPAST	Likely benign	753233534	RCV002132871;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312568	32312568	32312568	-
NM_014946.4(SPAST):c.441A>G (p.Glu147=)	6683	SPAST	Conflicting interpretations of pathogenicity	375027118	RCV001143042;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312586	32312586	2:g.32312586A>G	-
NM_014946.4(SPAST):c.443G>A (p.Trp148Ter)	6683	SPAST	Pathogenic	1573068995	RCV000796148;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312588	32312588	2:g.32312588G>A	-
NM_014946.4(SPAST):c.443delinsTAC (p.Trp148fs)	6683	SPAST	Likely pathogenic	-1	RCV003330232;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312588	32312588		-
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter)	6683	SPAST	Pathogenic	1553399493	RCV000644900\|RCV003420132;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32312589	32312589	NC_000002.11:g.32312589G>A	ClinGen:CA346603151	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.447T>A (p.Tyr149Ter)	6683	SPAST	Pathogenic	1553399498	RCV001391486;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312592	32312592	32312592	-
NM_014946.4(SPAST):c.453dup (p.Gly152fs)	6683	SPAST	Pathogenic	587777753	RCV000006017;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312595	32312596	NC_000002.11:g.32312598dup	ClinGen:CA253554,OMIM:604277.0008	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.465del (p.Glu155fs)	6683	SPAST	Pathogenic	863224514	RCV000200095\|RCV000517495;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32312609	32312609	NC_000002.11:g.32312610del	ClinGen:CA339092	CN517202 not provided;
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)	6683	SPAST	Benign/Likely benign	141944844	RCV000462611\|RCV000518068\|RCV001723926\|RCV001848692;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32312629	32312629	NC_000002.11:g.32312629G>A	ClinGen:CA1600590,UniProtKB:Q9UBP0#VAR_067563	CN169374 not specified;
NM_014946.4(SPAST):c.488T>C (p.Ile163Thr)	6683	SPAST	Uncertain significance	748674789	RCV001997915;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312633	32312633	32312633	-
NM_014946.4(SPAST):c.494del (p.Thr165fs)	6683	SPAST	Pathogenic	2148708949	RCV001885007;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312639	32312639	32312638	-
NM_014946.4(SPAST):c.494C>T (p.Thr165Ile)	6683	SPAST	Likely benign	-1	RCV002824237;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312639	32312639	NC_000002.11:g.32312639C>T	-
NM_014946.4(SPAST):c.502+9G>A	6683	SPAST	Likely benign	1677536089	RCV001433466;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312656	32312656	32312656	-
NM_014946.4(SPAST):c.502+9del	6683	SPAST	Likely benign	-1	RCV002639005;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312656	32312656	NC_000002.11:g.32312656del	-
NM_014946.4(SPAST):c.502+10T>C	6683	SPAST	Likely benign	-1	RCV002815419;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312657	32312657	NC_000002.11:g.32312657T>C	-
NM_014946.4(SPAST):c.502+18T>C	6683	SPAST	Benign	201013227	RCV002099006;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32312665	32312665	32312665	-
NC_000002.11:g.(?_32314571)_(32314694_?)del	6683	SPAST	Pathogenic	-1	RCV003116803;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314571	32314694		-
NC_000002.11:g.(?_32314571)_(32341301_?)del	6683	SPAST	Pathogenic	-1	RCV003116805;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314571	32341301		-
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter)	6683	SPAST	Pathogenic	886039695	RCV000255494\|RCV001038756;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314596	32314596	2:g.32314596C>T	ClinGen:CA10588341	CN517202 not provided;
NM_014946.4(SPAST):c.511T>C (p.Cys171Arg)	6683	SPAST	Uncertain significance	746073001	RCV000644905;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314599	32314599	NC_000002.11:g.32314599T>C	ClinGen:CA1600616	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.514G>T (p.Glu172Ter)	6683	SPAST	Pathogenic	2148710558	RCV001951595;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314602	32314602	32314602	-
NM_014946.4(SPAST):c.519A>G (p.Arg173=)	6683	SPAST	Conflicting interpretations of pathogenicity	1677627735	RCV001198739;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314607	32314607	2:g.32314607A>G	-
NM_014946.4(SPAST):c.521del (p.Ala174fs)	6683	SPAST	Pathogenic	1677627829	RCV001051295;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314609	32314609	2:g.32314609_32314609del	-
NM_014946.4(SPAST):c.526C>A (p.Arg176Ser)	6683	SPAST	Uncertain significance	775364035	RCV001210310;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314614	32314614	2:g.32314614C>A	-
NM_014946.4(SPAST):c.526C>T (p.Arg176Cys)	6683	SPAST	Uncertain significance	-1	RCV003023392;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314614	32314614	NC_000002.11:g.32314614C>T	-
NM_014946.4(SPAST):c.532C>T (p.Gln178Ter)	6683	SPAST	Pathogenic	1677628649	RCV002281036;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314620	32314620	32314620	-
NM_014946.4(SPAST):c.555G>C (p.Leu185Phe)	6683	SPAST	Uncertain significance	377698691	RCV001143043;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314643	32314643	2:g.32314643G>C	-
NM_014946.4(SPAST):c.562del (p.Ala188fs)	6683	SPAST	Pathogenic	1553400002	RCV000557631\|RCV001848957;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32314649	32314649	NC_000002.11:g.32314650del	ClinGen:CA658657016	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)	6683	SPAST	Pathogenic	1553400013	RCV001391487;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314665	32314665	32314665	-
NM_014946.4(SPAST):c.580del (p.Leu194fs)	6683	SPAST	Pathogenic	2148710617	RCV002014795;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314668	32314668	32314667	-
NM_014946.4(SPAST):c.586+3A>G	6683	SPAST	Uncertain significance	1677631075	RCV001237691;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314677	32314677	2:g.32314677A>G	-
NM_014946.4(SPAST):c.586+9_586+12del	6683	SPAST	Conflicting interpretations of pathogenicity	554544808	RCV000377887\|RCV000533695\|RCV001085042\|RCV001660698;	N	MedGen:C0751602\|MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN169374	2	32314680	32314683	2:g.32314680_32314683del	ClinGen:CA1600625	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.586+14T>C	6683	SPAST	Likely benign	-1	RCV003081876;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32314688	32314688	NC_000002.11:g.32314688T>C	-
NC_000002.12:g.(?_32098786)_(32116222_?)del	6683	SPAST	Pathogenic	-1	RCV001033018;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323855	32341291	-1	-
NM_014946.4(SPAST):c.587-4A>G	6683	SPAST	Likely benign	1400181900	RCV001424377;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323861	32323861	32323861	-
NM_014946.4(SPAST):c.589A>G (p.Lys197Glu)	6683	SPAST	Uncertain significance	-1	RCV002644165;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323867	32323867	NC_000002.11:g.32323867A>G	-
NM_014946.4(SPAST):c.606G>A (p.Leu202=)	6683	SPAST	Likely benign	-1	RCV002637421;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323884	32323884		-
NM_014946.4(SPAST):c.626C>T (p.Thr209Met)	6683	SPAST	Likely benign	537855621	RCV001143044\|RCV002557045;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MeSH:D030342,MedGen:C0950123	2	32323904	32323904	2:g.32323904C>T	-
NM_014946.4(SPAST):c.630C>T (p.Asp210=)	6683	SPAST	Likely benign	150444792	RCV002064667;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323908	32323908	2:g.32323908C>T	-
NM_014946.4(SPAST):c.631G>A (p.Val211Ile)	6683	SPAST	Uncertain significance	143003434	RCV000678674;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323909	32323909	NC_000002.11:g.32323909G>A	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.642C>A (p.Asp214Glu)	6683	SPAST	Uncertain significance	1678016729	RCV001306889;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323920	32323920	32323920	-
NM_014946.4(SPAST):c.644G>A (p.Ser215Asn)	6683	SPAST	Uncertain significance	774722817	RCV000283330;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323922	32323922	2:g.32323922G>A	ClinGen:CA10613219	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.661C>T (p.Arg221Cys)	6683	SPAST	Uncertain significance	371848866	RCV001919835;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323939	32323939	32323939	-
NM_014946.4(SPAST):c.662G>T (p.Arg221Leu)	6683	SPAST	Uncertain significance	-1	RCV002606832;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323940	32323940	NC_000002.11:g.32323940G>T	-
NM_014946.4(SPAST):c.662G>A (p.Arg221His)	6683	SPAST	Uncertain significance	-1	RCV003114933;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323940	32323940	NC_000002.11:g.32323940G>A	-
NM_014946.4(SPAST):c.665A>G (p.Asn222Ser)	6683	SPAST	Uncertain significance	-1	RCV002582503;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323943	32323943	NC_000002.11:g.32323943A>G	-
NM_014946.4(SPAST):c.679T>G (p.Ser227Ala)	6683	SPAST	Uncertain significance	762126088	RCV001143045\|RCV001760101;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32323957	32323957	2:g.32323957T>G	-
NC_000002.11:g.(32323961_32339706)_(32372328_32379442)del	6683	SPAST	Pathogenic	-1	RCV001391359;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32323961	32379442	-1	-
Single allele	6683	SPAST	Pathogenic	-1	RCV000203447;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32329723	32373142	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.683-7033_1004+30del	6683	SPAST	Pathogenic	-1	RCV000203476;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32332674	32340934	NC_000002.11:g.32332674_32340934del	ClinGen:CA339689	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.11:g.(?_32337285)_(32350543_?)del	6683	SPAST	Pathogenic	-1	RCV003388205;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32337285	32350543		-
NM_014946.4(SPAST):c.683-1277_870+399del	6683	SPAST	Pathogenic	-1	RCV000203471;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32338430	32340293	2:g.32338430_32338528del	ClinGen:CA339685	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203488;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32338733	32350391	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.11:g.(?_32339687)_(32341301_?)dup	6683	SPAST	Likely pathogenic	-1	RCV000644908;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339687	32341301		-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.12:g.(?_32114618)_(32128499_?)del	6683	SPAST	Pathogenic	-1	RCV000644907;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339687	32353568		-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.12:g.(?_32114618)_(32147278_?)del	6683	SPAST	Pathogenic	-1	RCV000708236;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339687	32372347		-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.11:g.(?_32339687)_(32341301_?)del	6683	SPAST	Pathogenic	-1	RCV001959139;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339687	32341301	-1	-
NC_000002.11:g.(?_32339687)_(32372347_?)dup	6683	SPAST	Likely pathogenic	-1	RCV003119451;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339687	32372347		-
NC_000002.11:g.(?_32339687)_(32339914_?)del	6683	SPAST	Pathogenic	-1	RCV003119453;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339687	32339914		-
NC_000002.11:g.(?_32339687)_(32379565_?)del	6683	SPAST	Pathogenic	-1	RCV003119456;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339687	32379565		-
NM_014946.4(SPAST):c.683-15C>G	6683	SPAST	Uncertain significance	1678752312	RCV001198893;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339692	32339692	2:g.32339692C>G	-
NC_000002.12:g.(?_32114628)_(32114835_?)del	6683	SPAST	Pathogenic	-1	RCV001033197;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339697	32339904	-1	-
NC_000002.12:g.(?_32114628)_(32116222_?)dup	6683	SPAST	Likely pathogenic	-1	RCV001031734;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339697	32341291	-1	-
NC_000002.11:g.(?_32339697)_(32379575_?)del	6683	SPAST	Pathogenic	-1	RCV001387294;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339697	32379575	-1	-
NM_014946.4(SPAST):c.683-9C>T	6683	SPAST	Benign/Likely benign	202209866	RCV000178947\|RCV000526971;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339698	32339698	2:g.32339698C>T	ClinGen:CA203102	CN169374 not specified;
NC_000002.12:g.(?_32114638)_(32157637_?)del	6683	SPAST	Pathogenic	-1	RCV000473733;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339707	32382706		-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.690_1099-4223del	6683	SPAST	Pathogenic	-1	RCV000203455;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339714	32347794	NC_000002.11:g.32339714_32347794del	ClinGen:CA339672	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.695_717dup (p.Thr240delinsPheGlnLysGluLysThrProTer)	6683	SPAST	Pathogenic	1678753568	RCV001219068\|RCV002473225;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32339718	32339719	2:g.32339718_32339719insTTCCAAAAAGAAAAGACCCCTTA	-
NM_014946.4(SPAST):c.698del (p.Pro233fs)	6683	SPAST	Pathogenic	1573118105	RCV000805780;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339721	32339721	2:g.32339721_32339721del	-
NM_014946.4(SPAST):c.712C>A (p.Pro238Thr)	6683	SPAST	Conflicting interpretations of pathogenicity	140094231	RCV001047464\|RCV001585943;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32339736	32339736	2:g.32339736C>A	-
NM_014946.4(SPAST):c.724_725del (p.His241_Thr242insTer)	6683	SPAST	Pathogenic	1558323426	RCV000700157;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339742	32339743	2:g.32339742_32339743del	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter)	6683	SPAST	Pathogenic	1553314896	RCV000516292\|RCV000535751;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339758	32339758	NC_000002.11:g.32339758C>G	ClinGen:CA346498423	CN517202 not provided;
NM_014946.4(SPAST):c.740C>G (p.Pro247Arg)	6683	SPAST	Uncertain significance	1316217696	RCV001912968;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339764	32339764	32339764	-
NM_014946.4(SPAST):c.742C>T (p.Arg248Cys)	6683	SPAST	Uncertain significance	757176714	RCV002004682\|RCV003324840;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32339766	32339766	32339766	-
NM_014946.4(SPAST):c.743G>A (p.Arg248His)	6683	SPAST	Uncertain significance	201395991	RCV001920580;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339767	32339767	32339767	-
NM_014946.4(SPAST):c.746dup (p.Thr251fs)	6683	SPAST	Pathogenic	2148732927	RCV001384832;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339769	32339770	32339769	-
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter)	6683	SPAST	Pathogenic	1553314902	RCV000713472\|RCV001849079\|RCV002532955;	N	MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339770	32339770	NC_000002.11:g.32339770C>G	-
NM_014946.4(SPAST):c.751dup (p.Thr251fs)	6683	SPAST	Pathogenic	-1	RCV002651448;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339770	32339771	NC_000002.11:g.32339775dup	-
NM_014946.4(SPAST):c.748A>T (p.Lys250Ter)	6683	SPAST	Pathogenic	1318536893	RCV001391488;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339772	32339772	32339772	OMIM:604277.0007
NM_014946.4(SPAST):c.753del (p.Val252fs)	6683	SPAST	Likely pathogenic	1678756927	RCV001253534;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339777	32339777	2:g.32339777_32339777del	-
NM_014946.4(SPAST):c.757dup (p.Met253fs)	6683	SPAST	Pathogenic	2148732951	RCV001956162;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339780	32339781	32339780	-
NM_014946.4(SPAST):c.759G>A (p.Met253Ile)	6683	SPAST	Likely benign	-1	RCV003038090;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339783	32339783	NC_000002.11:g.32339783G>A	-
NM_014946.4(SPAST):c.768A>G (p.Gly256=)	6683	SPAST	Likely benign	2148732966	RCV002087348;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339792	32339792	32339792	-
NM_014946.4(SPAST):c.768A>T (p.Gly256=)	6683	SPAST	Likely benign	-1	RCV002870769;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339792	32339792		-
NM_014946.4(SPAST):c.796G>A (p.Ala266Thr)	6683	SPAST	Uncertain significance	-1	RCV003116985;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339820	32339820	NC_000002.11:g.32339820G>A	-
NM_014946.4(SPAST):c.803_806dup (p.Tyr269Ter)	6683	SPAST	Pathogenic	-1	RCV002861254;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339824	32339825	NC_000002.11:g.32339827_32339830dup	-
NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter)	6683	SPAST	Pathogenic	771388402	RCV001391489;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339831	32339831	32339831	-
NM_014946.4(SPAST):c.808A>G (p.Ser270Gly)	6683	SPAST	Uncertain significance	-1	RCV002302300;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339832	32339832	32339832	-
NM_014946.4(SPAST):c.808A>C (p.Ser270Arg)	6683	SPAST	Uncertain significance	-1	RCV002838496;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339832	32339832	NC_000002.11:g.32339832A>C	-
NM_014946.4(SPAST):c.811_817del (p.Gly271fs)	6683	SPAST	Pathogenic	-1	RCV003048159;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339834	32339840	NC_000002.11:g.32339835_32339841del	-
NM_014946.4(SPAST):c.819_829del (p.Met274fs)	6683	SPAST	Likely pathogenic	-1	RCV002289345;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339843	32339853	32339842	-
NM_014946.4(SPAST):c.820A>G (p.Met274Val)	6683	SPAST	Uncertain significance	-1	RCV002991371;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339844	32339844	NC_000002.11:g.32339844A>G	-
NM_014946.4(SPAST):c.828T>C (p.Ser276=)	6683	SPAST	Benign/Likely benign	77525846	RCV000379470;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339852	32339852	NC_000002.11:g.32339852T>C	ClinGen:CA1600713	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.830G>T (p.Gly277Val)	6683	SPAST	Uncertain significance	1678761963	RCV001223403\|RCV001391483;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	2	32339854	32339854	2:g.32339854G>T	-
NM_014946.4(SPAST):c.832G>A (p.Val278Met)	6683	SPAST	Conflicting interpretations of pathogenicity	369908571	RCV000518464\|RCV000764403\|RCV001848906\|RCV002525084;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MeSH:D030342,MedGen:C0950123	2	32339856	32339856	NC_000002.11:g.32339856G>A	ClinGen:CA1600714	CN169374 not specified;
NM_014946.4(SPAST):c.832G>C (p.Val278Leu)	6683	SPAST	Uncertain significance	369908571	RCV002047079;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339856	32339856	32339856	-
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)	6683	SPAST	Pathogenic	1553314948	RCV000516709\|RCV000821011;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339862	32339862	NC_000002.11:g.32339862C>T	ClinGen:CA346498808	CN517202 not provided;
NM_014946.4(SPAST):c.839_840del (p.Gln280fs)	6683	SPAST	Pathogenic	1678762730	RCV001268506\|RCV002541637;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339863	32339864	2:g.32339863_32339864del	-
NM_014946.4(SPAST):c.839A>C (p.Gln280Pro)	6683	SPAST	Uncertain significance	-1	RCV002785961;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339863	32339863	NC_000002.11:g.32339863A>C	-
NM_014946.4(SPAST):c.842del (p.Gly281fs)	6683	SPAST	Pathogenic	-1	RCV003234880;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339864	32339864		-
NM_014946.4(SPAST):c.853G>A (p.Ala285Thr)	6683	SPAST	Likely benign	-1	RCV003003110;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339877	32339877	NC_000002.11:g.32339877G>A	-
NM_014946.4(SPAST):c.857del (p.Pro286fs)	6683	SPAST	Pathogenic	-1	RCV002953734;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339880	32339880	NC_000002.11:g.32339881del	-
NM_014946.4(SPAST):c.865C>T (p.His289Tyr)	6683	SPAST	Benign	74688377	RCV000644906\|RCV001697760;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32339889	32339889	2:g.32339889C>T	ClinGen:CA1600722	CN169374 not specified;
NM_014946.4(SPAST):c.867_868del (p.His289fs)	6683	SPAST	Pathogenic	1558323659	RCV000713474\|RCV001203163;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339890	32339891	NC_000002.11:g.32339891_32339892del	-
NM_014946.4(SPAST):c.870G>A (p.Lys290=)	6683	SPAST	Pathogenic	1421791559	RCV000548239;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339894	32339894	NC_000002.11:g.32339894G>A	ClinGen:CA425445560	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.870+1G>A	6683	SPAST	Pathogenic	1553314978	RCV000626923\|RCV000688305;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339895	32339895	NC_000002.11:g.32339895G>A	ClinGen:CA346498942	C0037772 Spastic paraplegia;
NM_014946.4(SPAST):c.870+1G>T	6683	SPAST	Pathogenic	1553314978	RCV001198064;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339895	32339895	2:g.32339895G>T	-
NM_014946.4(SPAST):c.870+3A>G	6683	SPAST	Pathogenic	1553314979	RCV001391490;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32339897	32339897	32339897	-
NM_014946.4(SPAST):c.871-368_1098+4142del	6683	SPAST	Pathogenic	-1	RCV000203487;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340401	32345421	NC_000002.11:g.32340403_32345423del	ClinGen:CA339699	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.871-17del	6683	SPAST	Benign	-1	RCV002862200;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340751	32340751	NC_000002.11:g.32340754del	-
NM_014946.4(SPAST):c.871-12G>A	6683	SPAST	Likely benign	764275621	RCV000603261\|RCV002066580;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340759	32340759	2:g.32340759G>A	ClinGen:CA44735850	CN169374 not specified;
NM_014946.4(SPAST):c.872del	6683	SPAST	Pathogenic	1678801811	RCV001391491;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340770	32340770	32340769	-
NM_014946.4(SPAST):c.871-1G>A	6683	SPAST	Likely pathogenic	1057524526	RCV001848174\|RCV003132544;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340770	32340770	32340770	-
NM_014946.4(SPAST):c.871G>T (p.Gly291Cys)	6683	SPAST	Uncertain significance	-1	RCV002658739;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340771	32340771	NC_000002.11:g.32340771G>T	-
NM_014946.4(SPAST):c.872G>T (p.Gly291Val)	6683	SPAST	Uncertain significance	-1	RCV002775968;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340772	32340772	NC_000002.11:g.32340772G>T	-
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)	6683	SPAST	Conflicting interpretations of pathogenicity	773193617	RCV001138298\|RCV001815024;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN169374	2	32340778	32340778	2:g.32340778C>T	-
NM_014946.4(SPAST):c.879G>A (p.Pro293=)	6683	SPAST	Benign/Likely benign	145264166	RCV000435691\|RCV000434697\|RCV001086304\|RCV001847928;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32340779	32340779	2:g.32340779G>A	ClinGen:CA350293	CN517202 not provided;
NM_014946.4(SPAST):c.883dup (p.Thr295fs)	6683	SPAST	Pathogenic	1553315181	RCV000529065;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340779	32340780	NC_000002.11:g.32340783dup	ClinGen:CA658657017	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.899_900insTT (p.Lys300fs)	6683	SPAST	Pathogenic	1678803263	RCV001229187;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340799	32340800	2:g.32340799_32340800insTT	-
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs)	6683	SPAST	Pathogenic/Likely pathogenic	2148734025	RCV001848175\|RCV002034743;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340801	32340802	32340801	-
NM_014946.4(SPAST):c.911del (p.Pro304fs)	6683	SPAST	Pathogenic	-1	RCV002281671\|RCV002473362;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32340808	32340808	32340807	-
NM_014946.4(SPAST):c.911C>G (p.Pro304Arg)	6683	SPAST	Uncertain significance	-1	RCV002766670;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340811	32340811	NC_000002.11:g.32340811C>G	-
NM_014946.4(SPAST):c.915A>G (p.Thr305=)	6683	SPAST	Likely benign	-1	RCV003022795;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340815	32340815		-
NM_014946.4(SPAST):c.923_927del (p.Thr308fs)	6683	SPAST	Pathogenic	1678805683	RCV001066646;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340823	32340827	2:g.32340823_32340827del	-
NM_014946.4(SPAST):c.924dup (p.Arg309fs)	6683	SPAST	Pathogenic/Likely pathogenic	1678805865	RCV001288798\|RCV001380192;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340823	32340824	32340823	-
NM_014946.4(SPAST):c.925del (p.Arg309fs)	6683	SPAST	Pathogenic	863224515	RCV000195823;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340825	32340825	NC_000002.11:g.32340825del	ClinGen:CA335970	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.926G>A (p.Arg309His)	6683	SPAST	Conflicting interpretations of pathogenicity	202152835	RCV001060560\|RCV002275218;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32340826	32340826	2:g.32340826G>A	-
NM_014946.4(SPAST):c.928A>T (p.Lys310Ter)	6683	SPAST	Pathogenic	1678806430	RCV001288799\|RCV001213809;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340828	32340828	2:g.32340828A>T	-
NM_014946.4(SPAST):c.936dup (p.Asp313fs)	6683	SPAST	Pathogenic	2148734097	RCV001385508;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340830	32340831	32340830	-
NM_014946.4(SPAST):c.935A>C (p.Lys312Thr)	6683	SPAST	Uncertain significance	540279272	RCV001918012;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340835	32340835	32340835	-
NM_014946.4(SPAST):c.942G>A (p.Leu314=)	6683	SPAST	Likely benign	776121105	RCV000614779\|RCV002064026;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340842	32340842	2:g.32340842G>A	ClinGen:CA1600747	CN169374 not specified;
NM_014946.4(SPAST):c.950T>G (p.Phe317Cys)	6683	SPAST	Uncertain significance	759832933	RCV001576768\|RCV001866067;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340850	32340850	32340850	-
NM_014946.4(SPAST):c.956dup (p.Asn319fs)	6683	SPAST	Pathogenic	-1	RCV003051562;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340854	32340855	NC_000002.11:g.32340856dup	-
NM_014946.4(SPAST):c.955A>T (p.Asn319Tyr)	6683	SPAST	Pathogenic	1678808584	RCV001391492;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340855	32340855	32340855	-
NM_014946.4(SPAST):c.965G>A (p.Ser322Asn)	6683	SPAST	Likely benign	200329686	RCV001438444\|RCV001558562;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32340865	32340865	32340865	-
NM_014946.4(SPAST):c.966del (p.Ser322fs)	6683	SPAST	Pathogenic	-1	RCV002651449;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340866	32340866	NC_000002.11:g.32340866del	-
NM_014946.4(SPAST):c.970del (p.Ala325fs)	6683	SPAST	Pathogenic	1678809494	RCV001234110;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340869	32340869	2:g.32340869_32340869del	-
NM_014946.4(SPAST):c.975dup (p.Asn326Ter)	6683	SPAST	Pathogenic	1678809927	RCV001236443;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340874	32340875	2:g.32340874_32340875insT	-
NM_014946.4(SPAST):c.977dup (p.Asn326fs)	6683	SPAST	Pathogenic	1678810039	RCV001035572;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340875	32340876	2:g.32340875_32340876insA	-
NM_014946.4(SPAST):c.982dup (p.Ile328fs)	6683	SPAST	Likely pathogenic	-1	RCV003152867;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340881	32340882		-
NM_014946.4(SPAST):c.983T>C (p.Ile328Thr)	6683	SPAST	Pathogenic	2148734189	RCV001391493;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340883	32340883	32340883	-
NM_014946.4(SPAST):c.985A>G (p.Met329Val)	6683	SPAST	Uncertain significance	1314415557	RCV001886530;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340885	32340885	32340885	-
NM_014946.4(SPAST):c.987G>A (p.Met329Ile)	6683	SPAST	Uncertain significance	1553315231	RCV000644899;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340887	32340887	2:g.32340887G>A	ClinGen:CA346499333	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1002C>G (p.Asp334Glu)	6683	SPAST	Uncertain significance	762108936	RCV001138299;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340902	32340902	2:g.32340902C>G	-
NM_014946.4(SPAST):c.1004+3_1004+6del	6683	SPAST	Conflicting interpretations of pathogenicity	1553315234	RCV000517258\|RCV000822643;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340903	32340906	NC_000002.11:g.32340903AAGT[1]	ClinGen:CA658657019	CN169374 not specified;
NM_014946.4(SPAST):c.1003A>C (p.Asn335His)	6683	SPAST	Uncertain significance	-1	RCV002584863;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340903	32340903	NC_000002.11:g.32340903A>C	-
NM_014946.4(SPAST):c.1004+1G>C	6683	SPAST	Pathogenic	1553315236	RCV001213274;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340905	32340905	2:g.32340905G>C	-
NM_014946.4(SPAST):c.1004+1G>T	6683	SPAST	Pathogenic	1553315236	RCV001391495;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340905	32340905	32340905	-
NM_014946.4(SPAST):c.1004+2T>G	6683	SPAST	Pathogenic	1553315240	RCV001391494;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340906	32340906	32340906	-
NM_014946.4(SPAST):c.1004+5G>T	6683	SPAST	Pathogenic	1320663265	RCV001391496;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340909	32340909	32340909	-
NM_014946.4(SPAST):c.1004+16T>C	6683	SPAST	Likely benign	-1	RCV002927928;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340920	32340920	NC_000002.11:g.32340920T>C	-
NM_014946.4(SPAST):c.1004+17A>G	6683	SPAST	Likely benign	-1	RCV002609500;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32340921	32340921	NC_000002.11:g.32340921A>G	-
NM_014946.4(SPAST):c.1005-16A>C	6683	SPAST	Likely benign	-1	RCV002842491;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341172	32341172	NC_000002.11:g.32341172A>C	-
NM_014946.4(SPAST):c.1005-5C>A	6683	SPAST	Uncertain significance	377123251	RCV000398308\|RCV001753799;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32341183	32341183	2:g.32341183C>A	ClinGen:CA10615305	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.1005-2A>C	6683	SPAST	Likely pathogenic	1553315316	RCV002225158;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341186	32341186	32341186	-
NM_014946.4(SPAST):c.1005-1G>A	6683	SPAST	Pathogenic	1553315318	RCV000806119;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341187	32341187	2:g.32341187G>A	-
NM_014946.4(SPAST):c.1005-1del	6683	SPAST	Likely pathogenic	2148734462	RCV001533205;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341187	32341187	32341186	-
NM_014946.4(SPAST):c.1005-1G>T	6683	SPAST	Pathogenic	1553315318	RCV002000098;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341187	32341187	32341187	-
NM_014946.4(SPAST):c.1011_1012dup (p.Ala338fs)	6683	SPAST	Pathogenic	2148734474	RCV001941135;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341193	32341194	32341193	-
NM_014946.4(SPAST):c.1018_1022del (p.Val339_Lys340insTer)	6683	SPAST	Pathogenic	1553315321	RCV000547623;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341199	32341203	2:g.32341199_32341203del	ClinGen:CA658657020	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1016T>C (p.Val339Ala)	6683	SPAST	Uncertain significance	-1	RCV002894352;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341199	32341199	NC_000002.11:g.32341199T>C	-
NM_014946.4(SPAST):c.1031T>A (p.Ile344Lys)	6683	SPAST	Pathogenic	121908513	RCV000006022;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341214	32341214	2:g.32341214T>A	ClinGen:CA253560,UniProtKB:Q9UBP0#VAR_019448,OMIM:604277.0013	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1031T>G (p.Ile344Arg)	6683	SPAST	Likely pathogenic	121908513	RCV001754545;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341214	32341214	32341214	-
NM_014946.4(SPAST):c.1032A>G (p.Ile344Met)	6683	SPAST	Conflicting interpretations of pathogenicity	-1	RCV002690733\|RCV002690734;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341215	32341215	NC_000002.11:g.32341215A>G	-
NM_014946.4(SPAST):c.1037G>T (p.Gly346Val)	6683	SPAST	Likely pathogenic	1573121594	RCV000986613;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341220	32341220	2:g.32341220G>T	-
NM_014946.4(SPAST):c.1038T>C (p.Gly346=)	6683	SPAST	Likely benign	-1	RCV003086743;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341221	32341221		-
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro)	6683	SPAST	Pathogenic/Likely pathogenic	1678825469	RCV001060706\|RCV001268906;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32341223	32341223	2:g.32341223A>C	-
NM_014946.4(SPAST):c.1047G>C (p.Leu349Phe)	6683	SPAST	Pathogenic	2148734527	RCV001391498;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341230	32341230	32341230	-
NM_014946.4(SPAST):c.1047G>T (p.Leu349Phe)	6683	SPAST	Uncertain significance	-1	RCV002819870;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341230	32341230	NC_000002.11:g.32341230G>T	-
NM_014946.4(SPAST):c.1048G>A (p.Ala350Thr)	6683	SPAST	Uncertain significance	1553315333	RCV000688114;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341231	32341231	2:g.32341231G>A	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1048G>T (p.Ala350Ser)	6683	SPAST	Uncertain significance	-1	RCV002932601;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341231	32341231	NC_000002.11:g.32341231G>T	-
NM_014946.4(SPAST):c.1049C>T (p.Ala350Val)	6683	SPAST	Uncertain significance	1060502231	RCV000467451\|RCV000516430;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN169374	2	32341232	32341232	NC_000002.11:g.32341232C>T	ClinGen:CA16610968	CN169374 not specified;
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)	6683	SPAST	Pathogenic/Likely pathogenic	1057519181	RCV000416011\|RCV001391499;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341249	32341249	2:g.32341249G>A	ClinGen:CA16043827	CN517202 not provided;
NM_014946.4(SPAST):c.1067A>G (p.Glu356Gly)	6683	SPAST	Pathogenic	1553315345	RCV001043692;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341250	32341250	2:g.32341250A>G	-
NM_014946.4(SPAST):c.1069del (p.Ile357fs)	6683	SPAST	Pathogenic	2148734579	RCV001390415;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341250	32341250	32341249	-
NM_014946.4(SPAST):c.1071del (p.Ile357fs)	6683	SPAST	Pathogenic	2148734583	RCV001956531;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341253	32341253	32341252	-
NM_014946.4(SPAST):c.1077T>C (p.Ile359=)	6683	SPAST	Likely benign	570106557	RCV001138715\|RCV001697992;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32341260	32341260	2:g.32341260T>C	ClinGen:CA1600785	CN169374 not specified;
NM_014946.4(SPAST):c.1081C>T (p.Pro361Ser)	6683	SPAST	Pathogenic	1553315350	RCV001911794;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341264	32341264	32341264	-
NM_014946.4(SPAST):c.1085C>G (p.Ser362Cys)	6683	SPAST	Pathogenic	121908509	RCV000006011;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341268	32341268	2:g.32341268C>G	OMIM:604277.0001,ClinGen:CA253546,UniProtKB:Q9UBP0#VAR_010195	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1085C>T (p.Ser362Phe)	6683	SPAST	Pathogenic	121908509	RCV001391500;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341268	32341268	32341268	-
NM_014946.4(SPAST):c.1087C>T (p.Leu363=)	6683	SPAST	Likely benign	769858706	RCV001704374\|RCV002525429;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341270	32341270	2:g.32341270C>T	ClinGen:CA1600786	CN169374 not specified;
NM_014946.4(SPAST):c.1091_1092del (p.Arg364fs)	6683	SPAST	Pathogenic	1573121790	RCV000986614;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341274	32341275	2:g.32341274_32341275del	-
NM_014946.4(SPAST):c.1091G>T (p.Arg364Met)	6683	SPAST	Likely pathogenic	1553315355	RCV001528133;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341274	32341274	32341274	-
NM_014946.4(SPAST):c.1092G>A (p.Arg364=)	6683	SPAST	Likely benign	-1	RCV002785661;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341275	32341275		-
NM_014946.4(SPAST):c.1096G>T (p.Glu366Ter)	6683	SPAST	Pathogenic	-1	RCV002837782;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341279	32341279	NC_000002.11:g.32341279G>T	-
NC_000002.11:g.(32341281_32352017)_(32379565_?)del	6683	SPAST	Pathogenic	-1	RCV001391417;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341281	32379565	-1	-
NM_014946.4(SPAST):c.1098+1G>A	6683	SPAST	Pathogenic	1377020559	RCV001218499;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341282	32341282	2:g.32341282G>A	-
NC_000002.11:g.(32341282_32352016)_(32353549_32361631)del	6683	SPAST	Pathogenic	-1	RCV001391360;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341282	32361631	-1	-
NC_000002.11:g.(32341282_32352016)_(32372328_32379442)del	6683	SPAST	Pathogenic	-1	RCV001391361;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341282	32379442	-1	-
NM_014946.4(SPAST):c.1098+2T>A	6683	SPAST	Pathogenic	2148734626	RCV001391501;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32341283	32341283	32341283	-
NM_014946.4(SPAST):c.1099-1062_1246-1342del	6683	SPAST	Pathogenic	-1	RCV000203457;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32350954	32360289	NC_000002.11:g.32350955_32360290del	ClinGen:CA339674	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.1099-956_1246-1672del	6683	SPAST	Pathogenic	-1	RCV000203479;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32351059	32359958	NC_000002.11:g.32351061_32359960del	ClinGen:CA339692	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.12:g.(?_32126928)_(32128499_?)del	6683	SPAST	Pathogenic	-1	RCV000560513;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32351997	32353568		-
NC_000002.11:g.(?_32351997)_(32362277_?)del	6683	SPAST	Pathogenic	-1	RCV003116806;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32351997	32362277		-
NC_000002.11:g.(?_32351997)_(32379565_?)del	6683	SPAST	Pathogenic	-1	RCV003119458;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32351997	32379565		-
NM_014946.4(SPAST):c.1099-20C>G	6683	SPAST	Likely benign	-1	RCV002953898;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32351997	32351997	NC_000002.11:g.32351997C>G	-
NM_014946.4(SPAST):c.1099-12T>C	6683	SPAST	Likely benign	1239734940	RCV002218020;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352005	32352005	32352005	-
NC_000002.12:g.(?_32126938)_(32154506_?)del	6683	SPAST	Pathogenic	-1	RCV000813345;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352007	32379575		-
NC_000002.12:g.(?_32126938)_(32128489_?)del	6683	SPAST	Pathogenic	-1	RCV000812002;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352007	32353558		-
NC_000002.11:g.(?_32352007)_(32353558_?)dup	6683	SPAST	Uncertain significance	-1	RCV001967784;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352007	32353558	-1	-
NM_014946.4(SPAST):c.1099-1G>A	6683	SPAST	Pathogenic	2148744884	RCV001391502;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352016	32352016	32352016	-
NM_014946.4(SPAST):c.1099-1G>C	6683	SPAST	Pathogenic	-1	RCV003039381;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352016	32352016	NC_000002.11:g.32352016G>C	-
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)	6683	SPAST	Pathogenic/Likely pathogenic	1553316799	RCV000644886;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352021	32352021	2:g.32352021T>C	ClinGen:CA346501201	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)	6683	SPAST	Pathogenic	1553316802	RCV001391503;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352023	32352023	32352023	-
NM_014946.4(SPAST):c.1107A>G (p.Thr369=)	6683	SPAST	Likely benign	1573139443	RCV000936378;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352025	32352025	2:g.32352025A>G	-
NM_014946.4(SPAST):c.1108G>T (p.Gly370Trp)	6683	SPAST	Uncertain significance	2148744904	RCV001365555;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352026	32352026	32352026	-
NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)	6683	SPAST	Likely pathogenic	1060499670	RCV000449607\|RCV001848797;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32352029	32352029	NC_000002.11:g.32352029C>T	ClinGen:CA16609412	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg)	6683	SPAST	Pathogenic/Likely pathogenic	1553316806	RCV000497447\|RCV000709816;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352030	32352030	2:g.32352030T>G	ClinGen:CA346501219	CN517202 not provided;
NM_014946.4(SPAST):c.1112T>C (p.Leu371Pro)	6683	SPAST	Likely pathogenic	-1	RCV002926582;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352030	32352030	NC_000002.11:g.32352030T>C	-
NM_014946.4(SPAST):c.1115G>T (p.Arg372Ile)	6683	SPAST	Uncertain significance	864622327	RCV000203812;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352033	32352033	2:g.32352033G>T	ClinGen:CA348091	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser)	6683	SPAST	Conflicting interpretations of pathogenicity	1425976342	RCV000644904\|RCV002473041;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32352034	32352034	NC_000002.11:g.32352034A>C	ClinGen:CA346501226	CN169374 not specified;
NM_014946.4(SPAST):c.1117G>C (p.Ala373Pro)	6683	SPAST	Uncertain significance	1679214464	RCV002020175;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352035	32352035	32352035	-
NM_014946.4(SPAST):c.1118del (p.Ala373fs)	6683	SPAST	Pathogenic	2148744935	RCV001387867;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352036	32352036	32352035	-
NM_014946.4(SPAST):c.1119T>C (p.Ala373=)	6683	SPAST	Likely benign	-1	RCV002607853;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352037	32352037		-
NM_014946.4(SPAST):c.1121C>T (p.Pro374Leu)	6683	SPAST	Pathogenic	1471030618	RCV000644887;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352039	32352039	2:g.32352039C>T	ClinGen:CA346501238	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1125C>T (p.Ala375=)	6683	SPAST	Likely benign	62142114	RCV001440324;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352043	32352043	2:g.32352043C>T	-
NM_014946.4(SPAST):c.1129G>C (p.Gly377Arg)	6683	SPAST	Uncertain significance	1679215171	RCV001061316;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352047	32352047	2:g.32352047G>C	-
NM_014946.4(SPAST):c.1132C>G (p.Leu378Val)	6683	SPAST	Likely pathogenic	2148744957	RCV002024525;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352050	32352050	32352050	-
NM_014946.4(SPAST):c.1139T>C (p.Leu380Pro)	6683	SPAST	Likely pathogenic	1553316819	RCV000686755;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352057	32352057	2:g.32352057T>C	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1139_1160del (p.Leu380fs)	6683	SPAST	Pathogenic	2148744982	RCV001953427;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352057	32352078	32352056	-
NM_014946.4(SPAST):c.1141T>G (p.Phe381Val)	6683	SPAST	Uncertain significance	1553316821	RCV001889536;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352059	32352059	32352059	-
NM_014946.4(SPAST):c.1144G>T (p.Gly382Cys)	6683	SPAST	Uncertain significance	-1	RCV002816629;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352062	32352062	NC_000002.11:g.32352062G>T	-
NM_014946.4(SPAST):c.1145G>C (p.Gly382Ala)	6683	SPAST	Uncertain significance	2148744995	RCV001906619;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352063	32352063	32352063	-
NM_014946.4(SPAST):c.1148C>G (p.Pro383Arg)	6683	SPAST	Pathogenic	2148745001	RCV001391504;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352066	32352066	32352066	-
NM_014946.4(SPAST):c.1149A>T (p.Pro383=)	6683	SPAST	Likely benign	-1	RCV002705464;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352067	32352067		-
NM_014946.4(SPAST):c.1151C>T (p.Pro384Leu)	6683	SPAST	Pathogenic	1573139616	RCV000817235;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352069	32352069	2:g.32352069C>T	-
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)	6683	SPAST	Pathogenic/Likely pathogenic	1573139616	RCV001848142\|RCV002543369;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352069	32352069	32352069	-
NM_014946.4(SPAST):c.1155G>A (p.Gly385=)	6683	SPAST	Likely benign	778305717	RCV001486066;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352073	32352073	32352073	-
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser)	6683	SPAST	Pathogenic	121908514	RCV000006023\|RCV001847586;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32352075	32352075	2:g.32352075A>G	ClinGen:CA253562,UniProtKB:Q9UBP0#VAR_019440,OMIM:604277.0014	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1159G>A (p.Gly387Arg)	6683	SPAST	Likely pathogenic	1679217117	RCV001050999;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352077	32352077	2:g.32352077G>A	-
NM_014946.4(SPAST):c.1163A>G (p.Lys388Arg)	6683	SPAST	Pathogenic	1553316837	RCV001960346;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352081	32352081	32352081	-
NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn)	6683	SPAST	Pathogenic	1553316838	RCV000521931\|RCV000528465;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352082	32352082	2:g.32352082G>T	ClinGen:CA346501330	CN517202 not provided;
NM_014946.4(SPAST):c.1164G>C (p.Lys388Asn)	6683	SPAST	Pathogenic	1553316838	RCV001960564;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352082	32352082	32352082	-
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)	6683	SPAST	Pathogenic	786204132	RCV000168104;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352083	32352083	2:g.32352083A>G	ClinGen:CA334274	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)	6683	SPAST	Pathogenic	797044850	RCV000190649\|RCV000206286\|RCV000478313;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32352086	32352086	2:g.32352086A>G	ClinGen:CA204591,UniProtKB:Q9UBP0#VAR_019441	C0950123 Inborn genetic diseases;
NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)	6683	SPAST	Pathogenic	1131691977	RCV000578366;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352087	32352087	2:g.32352087T>A	ClinGen:CA346501338	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1170G>A (p.Met390Ile)	6683	SPAST	Pathogenic/Likely pathogenic	1131691971	RCV000494283\|RCV001364718;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352088	32352088	2:g.32352088G>A	ClinGen:CA346501341	CN517202 not provided;
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)	6683	SPAST	Conflicting interpretations of pathogenicity	1679218212	RCV001090862\|RCV001391505;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352091	32352091	2:g.32352091G>A	-
NM_014946.4(SPAST):c.1173+1G>A	6683	SPAST	Pathogenic/Likely pathogenic	1060502226	RCV000472388\|RCV000518279;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32352092	32352092	NC_000002.11:g.32352092G>A	ClinGen:CA16610827	CN517202 not provided;
NM_014946.4(SPAST):c.1173+7G>T	6683	SPAST	Likely benign	-1	RCV002900474;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352098	32352098	NC_000002.11:g.32352098G>T	-
NM_014946.4(SPAST):c.1173+9T>C	6683	SPAST	Likely benign	775558266	RCV002129553;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352100	32352100	32352100	-
Single allele	6683	SPAST	Pathogenic	-1	RCV000203485;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352108	32379647	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.1173+17A>C	6683	SPAST	Benign/Likely benign	200640366	RCV000431631\|RCV002062664\|RCV003418120;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32352108	32352108	2:g.32352108A>C	ClinGen:CA1600818	CN169374 not specified;
NM_014946.4(SPAST):c.1173+20T>C	6683	SPAST	Likely benign	1196646723	RCV002172506;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352111	32352111	32352111	-
NM_014946.4(SPAST):c.1173+185_1245del	6683	SPAST	Pathogenic	-1	RCV001223514;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32352275	32353547	2:g.32352275_32352373del	-
NM_014946.4(SPAST):c.1174-270_1246-1724dup	6683	SPAST	Pathogenic	-1	RCV000203478;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353205	32353206	2:g.32353205_32353206insGGCATGCGCCACCACGCCTGACTAATTTTTGTATTTTTATTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGGCCTCAAGTGAT	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.11:g.(?_32353457)_(32353568_?)dup	6683	SPAST	Pathogenic	-1	RCV003116809;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353457	32353568		-
NM_014946.4(SPAST):c.1174-19G>T	6683	SPAST	Likely benign	-1	RCV002899703;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353458	32353458	NC_000002.11:g.32353458G>T	-
NM_014946.4(SPAST):c.1174-5T>C	6683	SPAST	Likely benign	1271850172	RCV001443186;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353472	32353472	32353472	-
NM_014946.4(SPAST):c.1174-2A>T	6683	SPAST	Pathogenic	1553317018	RCV000986615;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353475	32353475	2:g.32353475A>T	-
NM_014946.4(SPAST):c.1174-1G>A	6683	SPAST	Pathogenic	1553317024	RCV000787278;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353476	32353476	2:g.32353476G>A	-
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)	6683	SPAST	Conflicting interpretations of pathogenicity	1558331867	RCV000713459\|RCV001726320;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353477	32353477	NC_000002.11:g.32353477G>C	-
NM_014946.4(SPAST):c.1179_1194del (p.Lys393fs)	6683	SPAST	Pathogenic	-1	RCV003236631;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353480	32353495		-
NM_014946.4(SPAST):c.1180del (p.Ala394fs)	6683	SPAST	Pathogenic	1679263902	RCV001050492\|RCV001268359;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32353483	32353483	2:g.32353483_32353483del	-
NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)	6683	SPAST	Pathogenic	1189374970	RCV001391506;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353484	32353484	32353484	-
NM_014946.4(SPAST):c.1182A>G (p.Ala394=)	6683	SPAST	Uncertain significance	1679264088	RCV001138716;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353485	32353485	2:g.32353485A>G	-
NM_014946.4(SPAST):c.1186G>C (p.Ala396Pro)	6683	SPAST	Uncertain significance	-1	RCV002594414;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353489	32353489	NC_000002.11:g.32353489G>C	-
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)	6683	SPAST	Pathogenic/Likely pathogenic	1553317025	RCV000516537\|RCV000686298;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353499	32353499	NC_000002.11:g.32353499C>T	ClinGen:CA346501410	CN517202 not provided;
NM_014946.4(SPAST):c.1196C>G (p.Ser399Trp)	6683	SPAST	Uncertain significance	1553317025	RCV000536355;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353499	32353499	NC_000002.11:g.32353499C>G	ClinGen:CA346501409	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1196C>A (p.Ser399Ter)	6683	SPAST	Likely pathogenic	-1	RCV003131572;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353499	32353499	NC_000002.11:g.32353499C>A	-
NM_014946.4(SPAST):c.1199del (p.Asn400fs)	6683	SPAST	Pathogenic	-1	RCV002886617;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353501	32353501	NC_000002.11:g.32353502del	-
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)	6683	SPAST	Pathogenic/Likely pathogenic	1553317028	RCV000622527\|RCV001232194\|RCV001268888;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32353509	32353511	2:g.32353509_32353511del	ClinGen:CA658795707	C0950123 Inborn genetic diseases;
NM_014946.4(SPAST):c.1206C>T (p.Thr402=)	6683	SPAST	Likely benign	-1	RCV002690621;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353509	32353509		-
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del)	6683	SPAST	Likely pathogenic	1679265391	RCV001311915\|RCV002225131;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353513	32353515	32353512	-
NM_014946.4(SPAST):c.1211T>C (p.Phe404Ser)	6683	SPAST	Uncertain significance	1679265515	RCV001240909;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353514	32353514	2:g.32353514T>C	-
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs)	6683	SPAST	Pathogenic	1553317032	RCV000548535\|RCV001008119;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32353515	32353519	2:g.32353515_32353519del	ClinGen:CA658657023	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)	6683	SPAST	Pathogenic/Likely pathogenic	587777757	RCV000006029\|RCV000497406\|RCV001847589;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32353519	32353519	NC_000002.11:g.32353519A>G	ClinGen:CA253568,UniProtKB:Q9UBP0#VAR_026759,OMIM:604277.0020	CN517202 not provided;
NM_014946.4(SPAST):c.1217T>C (p.Ile406Thr)	6683	SPAST	Uncertain significance	1553317038	RCV000524548;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353520	32353520	NC_000002.11:g.32353520T>C	ClinGen:CA346501456	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1219A>C (p.Ser407Arg)	6683	SPAST	Pathogenic	1553317041	RCV001391507;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353522	32353522	32353522	-
NM_014946.4(SPAST):c.1220G>A (p.Ser407Asn)	6683	SPAST	Pathogenic/Likely pathogenic	1573142616	RCV000823946\|RCV003442117;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32353523	32353523	2:g.32353523G>A	-
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val)	6683	SPAST	Uncertain significance	1553317043	RCV000713460\|RCV001209308;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353526	32353526	NC_000002.11:g.32353526C>T	-
NM_014946.4(SPAST):c.1224T>G (p.Ala408=)	6683	SPAST	Likely benign	-1	RCV002770428;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353527	32353527		-
NM_014946.4(SPAST):c.1225G>A (p.Ala409Thr)	6683	SPAST	Pathogenic/Likely pathogenic	1064793273	RCV000481977\|RCV002525773;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353528	32353528	2:g.32353528G>A	ClinGen:CA16617528	CN517202 not provided;
NM_014946.4(SPAST):c.1226C>T (p.Ala409Val)	6683	SPAST	Pathogenic	2148746390	RCV001391508;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353529	32353529	32353529	-
NM_014946.4(SPAST):c.1226C>A (p.Ala409Glu)	6683	SPAST	Pathogenic	2148746390	RCV002037743;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353529	32353529	32353529	-
NM_014946.4(SPAST):c.1228A>C (p.Ser410Arg)	6683	SPAST	Uncertain significance	1679266894	RCV001237635;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353531	32353531	2:g.32353531A>C	-
NM_014946.4(SPAST):c.1229G>T (p.Ser410Ile)	6683	SPAST	Uncertain significance	-1	RCV002833602\|RCV003418617;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|	2	32353532	32353532	NC_000002.11:g.32353532G>T	-
NM_014946.4(SPAST):c.1232T>C (p.Leu411Ser)	6683	SPAST	Uncertain significance	1558331955	RCV000680107;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353535	32353535	2:g.32353535T>C	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1237T>A (p.Ser413Thr)	6683	SPAST	Uncertain significance	1679267183	RCV001229238;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353540	32353540	2:g.32353540T>A	-
NM_014946.4(SPAST):c.1238C>T (p.Ser413Leu)	6683	SPAST	Pathogenic	1553317045	RCV000799219;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353541	32353541	2:g.32353541C>T	-
NM_014946.4(SPAST):c.1238C>A (p.Ser413Ter)	6683	SPAST	Pathogenic	1553317045	RCV001383109;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353541	32353541	32353541	-
NM_014946.4(SPAST):c.1242A>G (p.Lys414=)	6683	SPAST	Pathogenic	1553317048	RCV001391509;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353545	32353545	32353545	-
NM_014946.4(SPAST):c.1245del (p.Lys414_Tyr415insTer)	6683	SPAST	Pathogenic	863224513	RCV000200188\|RCV000713462;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32353548	32353548	NC_000002.11:g.32353548del	ClinGen:CA339148	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1245+1G>A	6683	SPAST	Pathogenic/Likely pathogenic	875989878	RCV000211536\|RCV000993061\|RCV001267594\|RCV001796968\|RCV001847944;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32353549	32353549	2:g.32353549G>A	ClinGen:CA10576248	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.11:g.(32353549_32361631)_(32372328_32379442)del	6683	SPAST	Pathogenic	-1	RCV001391418;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353549	32379442	-1	-
NM_014946.4(SPAST):c.1245+1G>C	6683	SPAST	Pathogenic	-1	RCV002664229;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353549	32353549	NC_000002.11:g.32353549G>C	-
NM_014946.4(SPAST):c.1245+3G>C	6683	SPAST	Pathogenic	2148746437	RCV001391510;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353551	32353551	32353551	-
NM_014946.4(SPAST):c.1245+4A>G	6683	SPAST	Pathogenic/Likely pathogenic	587777755	RCV000006020\|RCV003225018;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32353552	32353552	NC_000002.11:g.32353552A>G	ClinGen:CA253558,OMIM:604277.0011	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1245+5G>A	6683	SPAST	Conflicting interpretations of pathogenicity	1553317049	RCV000658864\|RCV001729680;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353553	32353553	2:g.32353553G>A	-	CN517202 not provided;
NM_014946.4(SPAST):c.1245+6T>G	6683	SPAST	Pathogenic/Likely pathogenic	1553317050	RCV001268913\|RCV001376806;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353554	32353554	2:g.32353554T>G	-
NM_014946.4(SPAST):c.1245+10_1245+11del	6683	SPAST	Likely benign	755187805	RCV001492224;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353556	32353557	32353555	-
NM_014946.4(SPAST):c.1245+12G>A	6683	SPAST	Likely benign	766012036	RCV002202034;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353560	32353560	32353560	-
NM_014946.4(SPAST):c.1245+19A>G	6683	SPAST	Likely benign	-1	RCV002628067;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32353567	32353567	NC_000002.11:g.32353567A>G	-
Single allele	6683	SPAST	Pathogenic	-1	RCV000203456;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32356943	32372914	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.11:g.(?_32358030)_(32362241_?)del	6683	SPAST	Pathogenic	-1	RCV001972389;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32358030	32362241	-1	-
NM_014946.4(SPAST):c.1246-2897_1493+523dup	6683	SPAST	Pathogenic	-1	RCV000203477;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32358734	32358735	2:g.32358734_32358735insAAACGAACATTCACATAGTTCTTACCAGTTTACAGTGTTTTTTCCACACCGTCTTCAAAATGTAAAGTTTGGTCTTCAATACATCAGTATGCTGCTAGA	ClinGen:CA10575837	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.1246-2896_1493+523dup	6683	SPAST	Pathogenic	-1	RCV000006031;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32358735	32358736	NC_000002.11:g.32358736_32362780dup	ClinGen:CA10575495,dbVar:nssv7487215,OMIM:604277.0022	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203448;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32360319	32381228	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.1246-21_1246-14del	6683	SPAST	Likely benign	-1	RCV002829010;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361605	32361612	NC_000002.11:g.32361611_32361618del	-
NC_000002.12:g.(?_32136543)_(32147278_?)del	6683	SPAST	Pathogenic	-1	RCV000708326;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361612	32372347		-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.12:g.(?_32136553)_(32136648_?)del	6683	SPAST	Pathogenic	-1	RCV000799427;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361622	32361717		-
NC_000002.12:g.(?_32136553)_(32137198_?)del	6683	SPAST	Pathogenic	-1	RCV000804614;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361622	32362267		-
NC_000002.11:g.(?_32361622)_(32379575_?)del	6683	SPAST	Pathogenic	-1	RCV001384902;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361622	32379575	-1	-
NM_014946.4(SPAST):c.1246G>A (p.Val416Met)	6683	SPAST	Uncertain significance	-1	RCV002720180;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361632	32361632	NC_000002.11:g.32361632G>A	-
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala)	6683	SPAST	Uncertain significance	1558336489	RCV000713463\|RCV002298751;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361633	32361633	NC_000002.11:g.32361633T>C	-
NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu)	6683	SPAST	Pathogenic/Likely pathogenic	1553318161	RCV001213726\|RCV001819904;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32361636	32361636	2:g.32361636G>A	-
NM_014946.4(SPAST):c.1250G>T (p.Gly417Val)	6683	SPAST	Pathogenic	1553318161	RCV001390175\|RCV002259393;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32361636	32361636	32361636	-
NM_014946.4(SPAST):c.1253_1255del (p.Glu418del)	6683	SPAST	Pathogenic	1558336544	RCV000755019\|RCV001091360;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32361637	32361639	NC_000002.11:g.32361639_32361641del	-
NM_014946.4(SPAST):c.1252G>T (p.Glu418Ter)	6683	SPAST	Pathogenic	1553318164	RCV000644890;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361638	32361638	NC_000002.11:g.32361638G>T	ClinGen:CA346501839	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)	6683	SPAST	Conflicting interpretations of pathogenicity	1553318164	RCV000819752\|RCV001772134;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32361638	32361638	2:g.32361638G>A	-
NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)	6683	SPAST	Pathogenic	2148753625	RCV001391511;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361639	32361639	32361639	-
NM_014946.4(SPAST):c.1255G>A (p.Gly419Arg)	6683	SPAST	Uncertain significance	-1	RCV003018918;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361641	32361641	NC_000002.11:g.32361641G>A	-
NM_014946.4(SPAST):c.1256G>T (p.Gly419Val)	6683	SPAST	Uncertain significance	-1	RCV003043857;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361642	32361642	NC_000002.11:g.32361642G>T	-
NM_014946.4(SPAST):c.1258G>C (p.Glu420Gln)	6683	SPAST	Uncertain significance	1558336551	RCV000699128;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361644	32361644	2:g.32361644G>C	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1259A>G (p.Glu420Gly)	6683	SPAST	Pathogenic	2148753634	RCV002246738;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361645	32361645	32361645	-
NM_014946.4(SPAST):c.1260G>T (p.Glu420Asp)	6683	SPAST	Uncertain significance	1679543195	RCV002050789;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361646	32361646	32361646	-
NM_014946.4(SPAST):c.1261A>G (p.Lys421Glu)	6683	SPAST	Uncertain significance	1558336556	RCV000692625;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361647	32361647	2:g.32361647A>G	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1263del (p.Lys421fs)	6683	SPAST	Pathogenic	1679543364	RCV001391512;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361647	32361647	32361646	-
NM_014946.4(SPAST):c.1266G>C (p.Leu422Phe)	6683	SPAST	Pathogenic	1679543653	RCV001391513;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361652	32361652	32361652	-
NM_014946.4(SPAST):c.1266G>T (p.Leu422Phe)	6683	SPAST	Uncertain significance	1679543653	RCV001300327;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361652	32361652	32361652	-
NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr)	6683	SPAST	Pathogenic	2148753672	RCV001391514;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361657	32361657	32361657	-
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)	6683	SPAST	Pathogenic	1060502227	RCV000459046\|RCV000482415;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32361662	32361662	NC_000002.11:g.32361662C>G	ClinGen:CA16610830	CN517202 not provided;
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)	6683	SPAST	Pathogenic	786204126	RCV000168087\|RCV000579036\|RCV001847790;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32361677	32361677	2:g.32361677C>T	ClinGen:CA334245	CN517202 not provided;
NM_014946.4(SPAST):c.1291del (p.Arg431fs)	6683	SPAST	Pathogenic	-1	RCV002870950;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361677	32361677	NC_000002.11:g.32361677del	-
NM_014946.4(SPAST):c.1292G>A (p.Arg431Gln)	6683	SPAST	Uncertain significance	748779010	RCV000497999\|RCV000709819;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361678	32361678	2:g.32361678G>A	ClinGen:CA346502079	CN517202 not provided;
NM_014946.4(SPAST):c.1300C>T (p.Gln434Ter)	6683	SPAST	Pathogenic	-1	RCV002634366;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361686	32361686	NC_000002.11:g.32361686C>T	-
NM_014946.4(SPAST):c.1304C>T (p.Pro435Leu)	6683	SPAST	Pathogenic	1553318182	RCV001905076;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361690	32361690	32361690	-
NM_014946.4(SPAST):c.1306_1308del (p.Ser436del)	6683	SPAST	Uncertain significance	2148753695	RCV001882138;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361690	32361692	32361689	-
NM_014946.4(SPAST):c.1306T>C (p.Ser436Pro)	6683	SPAST	Pathogenic	2148753700	RCV001391515;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361692	32361692	32361692	-
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe)	6683	SPAST	Pathogenic	1553318184	RCV000754869;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361693	32361693	NC_000002.11:g.32361693C>T	-
NM_014946.4(SPAST):c.1307C>A (p.Ser436Tyr)	6683	SPAST	Pathogenic	1553318184	RCV001391516;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361693	32361693	32361693	-
NM_014946.4(SPAST):c.1313T>C (p.Ile438Thr)	6683	SPAST	Uncertain significance	2148753712	RCV001810520;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361699	32361699	32361699	-
NM_014946.4(SPAST):c.1321+1G>A	6683	SPAST	Pathogenic	2148753724	RCV001391518;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361708	32361708	32361708	-
NM_014946.4(SPAST):c.1321+2_1321+3insTT	6683	SPAST	Uncertain significance	-1	RCV003019978;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361708	32361709	NC_000002.11:g.32361709_32361710insTT	-
NM_014946.4(SPAST):c.1321+2T>G	6683	SPAST	Pathogenic	2148753725	RCV001391517;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361709	32361709	32361709	-
NM_014946.4(SPAST):c.1321+3A>G	6683	SPAST	Uncertain significance	-1	RCV003045904;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361710	32361710	NC_000002.11:g.32361710A>G	-
NM_014946.4(SPAST):c.1321+20C>T	6683	SPAST	Likely benign	-1	RCV002712163;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361727	32361727	NC_000002.11:g.32361727C>T	-
NM_014946.4(SPAST):c.1322-19A>C	6683	SPAST	Likely benign	748912757	RCV001892440;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361927	32361927	32361927	-
NM_014946.4(SPAST):c.1322-18T>C	6683	SPAST	Likely benign	1469260346	RCV002129567;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361928	32361928	32361928	-
NM_014946.4(SPAST):c.1322-2A>G	6683	SPAST	Pathogenic	1553318208	RCV001261168;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361944	32361944	2:g.32361944A>G	-
NM_014946.4(SPAST):c.1322-2A>C	6683	SPAST	Pathogenic	1553318208	RCV001391579;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361944	32361944	32361944	-
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)	6683	SPAST	Pathogenic	121908512	RCV000006018\|RCV001849258;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|Human Phenotype Ontology:HP:0100033,MONDO:MONDO:0002420,MedGen:C2169806	2	32361946	32361946	2:g.32361946A>G	ClinGen:CA253555,UniProtKB:Q9UBP0#VAR_027216,OMIM:604277.0009	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1322A>T (p.Asp441Val)	6683	SPAST	Likely pathogenic	121908512	RCV001238726;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361946	32361946	2:g.32361946A>T	-
NM_014946.4(SPAST):c.1326_1331del (p.Glu442_Val443del)	6683	SPAST	Uncertain significance	-1	RCV003152971;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361947	32361952		-
NM_014946.4(SPAST):c.1324G>A (p.Glu442Lys)	6683	SPAST	Likely pathogenic	1553318214	RCV001308595;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361948	32361948	32361948	-
NM_014946.4(SPAST):c.1325A>T (p.Glu442Val)	6683	SPAST	Likely pathogenic	1553318215	RCV001215693;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361949	32361949	2:g.32361949A>T	-
NM_014946.4(SPAST):c.1334G>A (p.Ser445Asn)	6683	SPAST	Uncertain significance	1131691838	RCV000690267;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361958	32361958	2:g.32361958G>A	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1335C>A (p.Ser445Arg)	6683	SPAST	Pathogenic	121908519	RCV000006030;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361959	32361959	2:g.32361959C>A	ClinGen:CA253570,OMIM:604277.0021	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1339_1340del (p.Leu447fs)	6683	SPAST	Pathogenic	1679553611	RCV001218540;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361961	32361962	2:g.32361961_32361962del	-
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)	6683	SPAST	Conflicting interpretations of pathogenicity	2148753950	RCV001361865;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361964	32361964	32361964	-
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr)	6683	SPAST	Pathogenic	121908510	RCV000006012;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361967	32361967	2:g.32361967G>A	ClinGen:CA253548,UniProtKB:Q9UBP0#VAR_010197,OMIM:604277.0002	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)	6683	SPAST	Pathogenic/Likely pathogenic	1553318223	RCV000644893;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361972	32361972	NC_000002.11:g.32361972A>G	ClinGen:CA346502217	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1349G>A (p.Arg450Lys)	6683	SPAST	Uncertain significance	1679553997	RCV001341398\|RCV001508981;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32361973	32361973	32361973	-
NM_014946.4(SPAST):c.1350_1351del (p.Glu452fs)	6683	SPAST	Pathogenic	2148753972	RCV001380044;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361974	32361975	32361973	-
NM_014946.4(SPAST):c.1351A>G (p.Arg451Gly)	6683	SPAST	Uncertain significance	-1	RCV002289435;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361975	32361975	32361975	-
NM_014946.4(SPAST):c.1359_1360dup (p.Glu454fs)	6683	SPAST	Pathogenic	1384312757	RCV000993062\|RCV001205662;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361980	32361981	2:g.32361980_32361981insGG	-
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)	6683	SPAST	Pathogenic	1553318230	RCV000823324;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361984	32361984	2:g.32361984G>A	-
NM_014946.4(SPAST):c.1361dup (p.His455fs)	6683	SPAST	Pathogenic	1573156283	RCV000819748\|RCV001849119;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32361984	32361985	2:g.32361984_32361985insA	-
NM_014946.4(SPAST):c.1362G>A (p.Glu454=)	6683	SPAST	Likely benign	138849656	RCV000869392\|RCV001836915;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32361986	32361986	2:g.32361986G>A	-
NM_014946.4(SPAST):c.1363C>G (p.His455Asp)	6683	SPAST	Uncertain significance	863224769	RCV000198590;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361987	32361987	2:g.32361987C>G	ClinGen:CA338018	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1365C>T (p.His455=)	6683	SPAST	Likely benign	748788182	RCV002115142;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361989	32361989	32361989	-
NM_014946.4(SPAST):c.1366_1369dup (p.Ala457fs)	6683	SPAST	Likely pathogenic	-1	RCV002288248;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361989	32361990	32361989	-
NM_014946.4(SPAST):c.1366G>A (p.Asp456Asn)	6683	SPAST	Uncertain significance	1330471269	RCV001966659\|RCV002265055;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32361990	32361990	32361990	-
NM_014946.4(SPAST):c.1368dup (p.Ala457fs)	6683	SPAST	Pathogenic	1573156341	RCV000791882;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361991	32361992	2:g.32361991_32361992insT	-
NM_014946.4(SPAST):c.1372A>C (p.Ser458Arg)	6683	SPAST	Likely pathogenic	-1	RCV002634367;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361996	32361996	NC_000002.11:g.32361996A>C	-
NM_014946.4(SPAST):c.1374T>G (p.Ser458Arg)	6683	SPAST	Uncertain significance	1036039694	RCV000693187;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361998	32361998	NC_000002.11:g.32361998T>G	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1375A>G (p.Arg459Gly)	6683	SPAST	Pathogenic	1553318238	RCV000677392;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361999	32361999	NC_000002.11:g.32361999A>G	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1375del (p.Arg459fs)	6683	SPAST	Pathogenic	2148754018	RCV001389860;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361999	32361999	32361998	-
NM_014946.4(SPAST):c.1375A>C (p.Arg459=)	6683	SPAST	Likely benign	-1	RCV003042793;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32361999	32361999		-
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)	6683	SPAST	Pathogenic	878854990	RCV000234461\|RCV000713464\|RCV001847989;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32362002	32362002	NC_000002.11:g.32362002C>T	ClinGen:CA10581968,UniProtKB:Q9UBP0#VAR_027218	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1379G>A (p.Arg460His)	6683	SPAST	Pathogenic/Likely pathogenic	1553318241	RCV001268496\|RCV001377876\|RCV001847217;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32362003	32362003	2:g.32362003G>A	-
NM_014946.4(SPAST):c.1379G>T (p.Arg460Leu)	6683	SPAST	Pathogenic	-1	RCV002651452;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362003	32362003	NC_000002.11:g.32362003G>T	-
NM_014946.4(SPAST):c.1384A>C (p.Lys462Gln)	6683	SPAST	Pathogenic	1553318246	RCV001391580;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362008	32362008	32362008	-
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter)	6683	SPAST	Pathogenic	1679556566	RCV001052644\|RCV001847137;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32362014	32362014	2:g.32362014G>T	-
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)	6683	SPAST	Conflicting interpretations of pathogenicity	1679556566	RCV001213823\|RCV001847192;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32362014	32362014	2:g.32362014G>A	-
NM_014946.4(SPAST):c.1392del (p.Glu464fs)	6683	SPAST	Pathogenic	1558336906	RCV000690967;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362015	32362015	NC_000002.11:g.32362016del	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1395del (p.Phe465_Leu466insTer)	6683	SPAST	Pathogenic	587777751	RCV000006013;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362017	32362017	NC_000002.11:g.32362019del	ClinGen:CA253550,OMIM:604277.0003	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1396C>G (p.Leu466Val)	6683	SPAST	Pathogenic	1553318252	RCV001391581;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362020	32362020	32362020	-
NM_014946.4(SPAST):c.1398_1413+1dup	6683	SPAST	Likely pathogenic	1558336927	RCV000700328;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362021	32362022	NC_000002.11:g.32362022_32362038dup	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1405T>G (p.Phe469Val)	6683	SPAST	Pathogenic	2148754101	RCV001391582;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362029	32362029	32362029	-
NM_014946.4(SPAST):c.1408G>C (p.Asp470His)	6683	SPAST	Uncertain significance	1553318261	RCV001219765;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362032	32362032	2:g.32362032G>C	-
NM_014946.4(SPAST):c.1409A>T (p.Asp470Val)	6683	SPAST	Pathogenic	121908516	RCV000006024;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362033	32362033	2:g.32362033A>T	ClinGen:CA253564,UniProtKB:Q9UBP0#VAR_027220,OMIM:604277.0016	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1411G>T (p.Gly471Cys)	6683	SPAST	Uncertain significance	1679558360	RCV001062437;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362035	32362035	2:g.32362035G>T	-
NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp)	6683	SPAST	Pathogenic	1553318274	RCV000526604;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362036	32362036	NC_000002.11:g.32362036G>A	ClinGen:CA346502364	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1413+1_1413+2del	6683	SPAST	Pathogenic/Likely pathogenic	1679558544	RCV001269481;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362036	32362037	2:g.32362036_32362037del	-
NM_014946.4(SPAST):c.1413+2dup	6683	SPAST	Pathogenic	587777756	RCV000006021\|RCV001508982;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32362038	32362039	NC_000002.11:g.32362039dup	ClinGen:CA253559,OMIM:604277.0012	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1413+3_1413+6del	6683	SPAST	Pathogenic/Likely pathogenic	570685843	RCV000644896;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362038	32362041	NC_000002.11:g.32362040_32362043del	ClinGen:CA44749914	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1413+1G>A	6683	SPAST	Pathogenic	1553318276	RCV000993066\|RCV001823007\|RCV002471005;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,MedGen:C0427144\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362038	32362038	2:g.32362038G>A	-
NM_014946.4(SPAST):c.1413+5G>C	6683	SPAST	Likely pathogenic	1553318282	RCV000539043;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362042	32362042	2:g.32362042G>C	ClinGen:CA658657026	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1413+6T>G	6683	SPAST	Uncertain significance	1553318284	RCV002026714;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362043	32362043	32362043	-
NM_014946.4(SPAST):c.1413+10G>A	6683	SPAST	Likely benign	2148754141	RCV002219204;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362047	32362047	32362047	-
NM_014946.4(SPAST):c.1414-2A>T	6683	SPAST	Pathogenic	1553318304	RCV001533204;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362176	32362176	32362176	-
NM_014946.4(SPAST):c.1414-2A>G	6683	SPAST	Pathogenic	-1	RCV002474430\|RCV003235729;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362176	32362176	NC_000002.11:g.32362176A>G	-
NM_014946.4(SPAST):c.1414-1G>C	6683	SPAST	Pathogenic	786204163	RCV000168164;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362177	32362177	2:g.32362177G>C	ClinGen:CA334385	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1415T>G (p.Val472Gly)	6683	SPAST	Uncertain significance	-1	RCV003051740;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362179	32362179	NC_000002.11:g.32362179T>G	-
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter)	6683	SPAST	Pathogenic	757130394	RCV000197545;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362181	32362181	2:g.32362181C>T	ClinGen:CA337296	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1432G>A (p.Asp478Asn)	6683	SPAST	Uncertain significance	1191508807	RCV000644901;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362196	32362196	NC_000002.11:g.32362196G>A	ClinGen:CA346502414	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)	6683	SPAST	Pathogenic/Likely pathogenic	864622268	RCV000204013;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362199	32362200	2:g.32362199_32362200del	ClinGen:CA348291	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1441_1446del (p.Leu481_Val482del)	6683	SPAST	Likely pathogenic	-1	RCV003388815;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362202	32362207		-
NM_014946.4(SPAST):c.1442_1443insA (p.Val482fs)	6683	SPAST	Pathogenic	1553318313	RCV000554278;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362206	32362207	NC_000002.11:g.32362206_32362207insA	ClinGen:CA658657027	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala)	6683	SPAST	Uncertain significance	1417318347	RCV002038710;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362209	32362209	32362209	-
NM_014946.4(SPAST):c.1448T>C (p.Met483Thr)	6683	SPAST	Uncertain significance	1679565382	RCV001224680;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362212	32362212	2:g.32362212T>C	-
NM_014946.4(SPAST):c.1448T>G (p.Met483Arg)	6683	SPAST	Uncertain significance	-1	RCV003138612;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362212	32362212	NC_000002.11:g.32362212T>G	-
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)	6683	SPAST	Conflicting interpretations of pathogenicity	1553318317	RCV000517007\|RCV001216975\|RCV002281101;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32362214	32362214	NC_000002.11:g.32362214G>C	ClinGen:CA346502457	CN169374 not specified;
NM_014946.4(SPAST):c.1451G>A (p.Gly484Asp)	6683	SPAST	Uncertain significance	1558337098	RCV000687432;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362215	32362215	2:g.32362215G>A	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala)	6683	SPAST	Pathogenic	1553318320	RCV000644892\|RCV002222579;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32362220	32362220	NC_000002.11:g.32362220A>G	ClinGen:CA346502469	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1457C>T (p.Thr486Ile)	6683	SPAST	Uncertain significance	1558337122	RCV000701279;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362221	32362221	NC_000002.11:g.32362221C>T	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1458_1459dup (p.Asn487fs)	6683	SPAST	Pathogenic	1558337136	RCV000707183;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362221	32362222	2:g.32362221_32362222insTA	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1459A>C (p.Asn487His)	6683	SPAST	not provided	1553318323	RCV000509270;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362223	32362223	2:g.32362223A>C	ClinGen:CA346502473	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1462A>T (p.Arg488Trp)	6683	SPAST	Uncertain significance	1553318329	RCV000644895;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362226	32362226	NC_000002.11:g.32362226A>T	ClinGen:CA346502482	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1462A>G (p.Arg488Gly)	6683	SPAST	Pathogenic	1553318329	RCV001391583;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362226	32362226	32362226	-
NM_014946.4(SPAST):c.1463_1464insATTA (p.Pro489fs)	6683	SPAST	Pathogenic	2148754355	RCV001391584;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362227	32362228	32362227	-
NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu)	6683	SPAST	Pathogenic	1553318331	RCV001391585;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362230	32362230	32362230	-
NM_014946.4(SPAST):c.1468C>T (p.Gln490Ter)	6683	SPAST	Pathogenic	1553318336	RCV001228446\|RCV002473231;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32362232	32362232	2:g.32362232C>T	-
NM_014946.4(SPAST):c.1469_1470del (p.Gln490fs)	6683	SPAST	Pathogenic	1573157108	RCV000986616;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362233	32362234	2:g.32362233_32362234del	-
NM_014946.4(SPAST):c.1472A>G (p.Glu491Gly)	6683	SPAST	Pathogenic	2148754376	RCV001391586;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362236	32362236	32362236	-
NM_014946.4(SPAST):c.1477G>T (p.Asp493Tyr)	6683	SPAST	Likely pathogenic	1060499939	RCV000468399;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362241	32362241	2:g.32362241G>T	ClinGen:CA16616712	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1477G>C (p.Asp493His)	6683	SPAST	Conflicting interpretations of pathogenicity	1060499939	RCV000476656\|RCV001848846;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32362241	32362241	2:g.32362241G>C	ClinGen:CA16616713	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1483G>A (p.Ala495Thr)	6683	SPAST	Uncertain significance	1060502228	RCV000468513;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362247	32362247	NC_000002.11:g.32362247G>A	ClinGen:CA16610831	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)	6683	SPAST	Conflicting interpretations of pathogenicity	1060502228	RCV001234587;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362247	32362247	2:g.32362247G>T	-
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)	6683	SPAST	Pathogenic/Likely pathogenic	1553318347	RCV000578417;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362248	32362248	2:g.32362248C>T	ClinGen:CA346502534	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1486G>C (p.Val496Leu)	6683	SPAST	Uncertain significance	779662872	RCV001040989;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362250	32362250	2:g.32362250G>C	-
NM_014946.4(SPAST):c.1493+2_1493+5del	6683	SPAST	Pathogenic/Likely pathogenic	1558337180	RCV000688359\|RCV001849052;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32362256	32362259	2:g.32362256_32362259del	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)	6683	SPAST	Likely pathogenic	1553318350	RCV001377877\|RCV002265027;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32362256	32362256	32362256	-
NM_014946.4(SPAST):c.1493G>C (p.Arg498Thr)	6683	SPAST	Likely pathogenic	2148754411	RCV001822087\|RCV002473302;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32362257	32362257	32362257	-
NM_014946.4(SPAST):c.1493+1G>A	6683	SPAST	Pathogenic	1553318351	RCV001219396\|RCV001664760;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32362258	32362258	2:g.32362258G>A	-
NC_000002.11:g.(32362258_32366972)_(32370077_32372286)del	6683	SPAST	Pathogenic	-1	RCV001391419;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362258	32372286	-1	-
NM_014946.4(SPAST):c.1493+1G>T	6683	SPAST	Pathogenic	1553318351	RCV001391588\|RCV002511069;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32362258	32362258	32362258	-
NM_014946.4(SPAST):c.1493+2T>A	6683	SPAST	Pathogenic	1553318353	RCV001268480\|RCV002246265;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362259	32362259	2:g.32362259T>A	-
NM_014946.4(SPAST):c.1493+2T>C	6683	SPAST	Pathogenic	1553318353	RCV001391587;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32362259	32362259	32362259	-
NM_014946.4(SPAST):c.1493+6G>A	6683	SPAST	Benign/Likely benign	115659052	RCV001138717\|RCV001696835;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32362263	32362263	2:g.32362263G>A	ClinGen:CA1600904	CN169374 not specified;
NM_014946.4(SPAST):c.1493+18G>T	6683	SPAST	Benign/Likely benign	189961829	RCV000228227\|RCV000441625\|RCV002055008;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN169374\|MedGen:C3661900	2	32362275	32362275	NC_000002.11:g.32362275G>T	ClinGen:CA1600910	CN169374 not specified;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203491;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32365295	32374446	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.1494-1393_1688-466dup	6683	SPAST	Pathogenic	-1	RCV000203493;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32365579	32365580	2:g.32365579_32365580insCTACTCAGGAGGCTGATAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACGGCGGCACTGTACTCTAGCCTGGGGGACAGAGCAAGGCT	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.11:g.(?_32366953)_(32370096_?)del	6683	SPAST	Pathogenic	-1	RCV003116804;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366953	32370096		-
NM_014946.4(SPAST):c.1494-16G>A	6683	SPAST	Likely benign	-1	RCV002625104;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366957	32366957	NC_000002.11:g.32366957G>A	-
NM_014946.4(SPAST):c.1494-3dup	6683	SPAST	Benign	760322678	RCV000476096;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366959	32366960	NC_000002.11:g.32366970dup	ClinGen:CA1600922	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1494-3del	6683	SPAST	Benign	-1	RCV003066813;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366960	32366960	NC_000002.11:g.32366970del	-
NM_014946.4(SPAST):c.1494-7T>C	6683	SPAST	Likely benign	894974418	RCV001471560;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366966	32366966	32366966	-
NC_000002.11:g.(?_32366967)_(32372333_?)del	6683	SPAST	Pathogenic	-1	RCV001384903;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366967	32372333	-1	-
NM_014946.4(SPAST):c.1494-5T>G	6683	SPAST	Uncertain significance	1553319072	RCV000497683\|RCV001037433;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366968	32366968	2:g.32366968T>G	ClinGen:CA645372364	CN169374 not specified;
NM_014946.4(SPAST):c.1494-2A>C	6683	SPAST	Pathogenic	1218081251	RCV000544533\|RCV000713466;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32366971	32366971	NC_000002.11:g.32366971A>C	ClinGen:CA346502809	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1494-2A>G	6683	SPAST	Pathogenic	1218081251	RCV000689805;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366971	32366971	2:g.32366971A>G	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1494-2A>T	6683	SPAST	Pathogenic	1218081251	RCV001970051;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366971	32366971	32366971	-
NM_014946.4(SPAST):c.1494-1G>C	6683	SPAST	Pathogenic	1315245986	RCV000532382;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366972	32366972	2:g.32366972G>C	ClinGen:CA346502813	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1494-1G>A	6683	SPAST	Pathogenic	1315245986	RCV001391589;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366972	32366972	32366972	-
NC_000002.12:g.32141904del	6683	SPAST	Pathogenic	2148758232	RCV002035360;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366972	32366972		-
NM_014946.4(SPAST):c.1494G>C (p.Arg498Ser)	6683	SPAST	Pathogenic	1553319075	RCV000644884;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366973	32366973	NC_000002.11:g.32366973G>C	ClinGen:CA346502816	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)	6683	SPAST	Pathogenic/Likely pathogenic	121908511	RCV000006014\|RCV000415256\|RCV000523541\|RCV001847585;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|Human Phenotype Ontology:HP:0002313,Human Phenotype Ontology:HP:0007191,MedGen:C0037771\|MedGen:C3661900\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32366974	32366974	2:g.32366974C>T	ClinGen:CA253551,UniProtKB:Q9UBP0#VAR_010198,OMIM:604277.0004	CN517202 not provided;
NM_014946.4(SPAST):c.1495C>A (p.Arg499Ser)	6683	SPAST	Uncertain significance	121908511	RCV001205823;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366974	32366974	2:g.32366974C>A	-
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	6683	SPAST	Conflicting interpretations of pathogenicity	878854991	RCV000230990\|RCV000623007\|RCV000713467\|RCV001814125\|RCV001847990\|RCV003422150;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|Human Phenotype Ontology:HP:0011442,MedGen:C4023354\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|	2	32366975	32366975	NC_000002.11:g.32366975G>A	ClinGen:CA10581969,UniProtKB:Q9UBP0#VAR_026761	C0950123 Inborn genetic diseases;
NM_014946.4(SPAST):c.1496G>T (p.Arg499Leu)	6683	SPAST	Likely pathogenic	878854991	RCV000986617;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366975	32366975	2:g.32366975G>T	-
NM_014946.4(SPAST):c.1496del (p.Arg499fs)	6683	SPAST	Pathogenic	2148758241	RCV001391590;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366975	32366975	32366974	-
NM_014946.4(SPAST):c.1499T>G (p.Phe500Cys)	6683	SPAST	Uncertain significance	1679732057	RCV001071158;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366978	32366978	2:g.32366978T>G	-
NM_014946.4(SPAST):c.1500C>G (p.Phe500Leu)	6683	SPAST	Uncertain significance	-1	RCV002297930;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366979	32366979	32366979	-
NM_014946.4(SPAST):c.1506del (p.Lys502fs)	6683	SPAST	Pathogenic	2148758252	RCV001388853;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366983	32366983	32366982	-
NM_014946.4(SPAST):c.1504A>G (p.Lys502Glu)	6683	SPAST	Uncertain significance	-1	RCV003011277;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366983	32366983	NC_000002.11:g.32366983A>G	-
NM_014946.4(SPAST):c.1505A>C (p.Lys502Thr)	6683	SPAST	Uncertain significance	1558339891	RCV000702394;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366984	32366984	2:g.32366984A>C	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)	6683	SPAST	Pathogenic/Likely pathogenic	864622162	RCV000204046\|RCV000585136\|RCV001847923;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32366986	32366986	2:g.32366986C>T	ClinGen:CA348315,UniProtKB:Q9UBP0#VAR_026762	CN517202 not provided;
NM_014946.4(SPAST):c.1508G>A (p.Arg503Gln)	6683	SPAST	Likely pathogenic	-1	RCV002814347;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366987	32366987	NC_000002.11:g.32366987G>A	-
NM_014946.4(SPAST):c.1514_1515del (p.Tyr505fs)	6683	SPAST	Pathogenic	1679732948	RCV001209331;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366990	32366991	2:g.32366990_32366991del	-
NM_014946.4(SPAST):c.1512A>G (p.Val504=)	6683	SPAST	Likely benign	-1	RCV002628554;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32366991	32366991		-
NM_014946.4(SPAST):c.1525C>A (p.Pro509Thr)	6683	SPAST	Uncertain significance	1553319092	RCV000533260;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367004	32367004	NC_000002.11:g.32367004C>A	ClinGen:CA346502947	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1525C>G (p.Pro509Ala)	6683	SPAST	Uncertain significance	1553319092	RCV001365319;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367004	32367004	32367004	-
NM_014946.4(SPAST):c.1525C>T (p.Pro509Ser)	6683	SPAST	Uncertain significance	-1	RCV002810084;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367004	32367004	NC_000002.11:g.32367004C>T	-
NM_014946.4(SPAST):c.1525_1530del (p.Pro509_Asn510del)	6683	SPAST	Likely pathogenic	-1	RCV003445445;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367004	32367009		-
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu)	6683	SPAST	Uncertain significance	1443578852	RCV000713468\|RCV000790426;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367005	32367005	NC_000002.11:g.32367005C>T	-
NM_014946.4(SPAST):c.1535_1536+1del	6683	SPAST	Likely pathogenic	1558339948	RCV000707455;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367010	32367012	NC_000002.11:g.32367011AGG[1]	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1536G>A (p.Glu512=)	6683	SPAST	Conflicting interpretations of pathogenicity	1553319093	RCV000578771\|RCV000806003;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367015	32367015	2:g.32367015G>A	ClinGen:CA425451338	CN169374 not specified;
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)	6683	SPAST	Pathogenic/Likely pathogenic	1553319093	RCV001848157\|RCV002478078;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367015	32367015	32367015	-
NM_014946.4(SPAST):c.1536+2dup	6683	SPAST	Uncertain significance	1573165113	RCV000823801;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367016	32367017	2:g.32367016_32367017insT	-
NM_014946.4(SPAST):c.1536+1G>A	6683	SPAST	Pathogenic	-1	RCV002651453;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367016	32367016	NC_000002.11:g.32367016G>A	-
NM_014946.4(SPAST):c.1536+17G>T	6683	SPAST	Likely benign	201026422	RCV000422639\|RCV002062445;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367032	32367032	2:g.32367032G>T	ClinGen:CA1600929	CN169374 not specified;
NM_014946.4(SPAST):c.1536+17G>C	6683	SPAST	Likely benign	201026422	RCV002100546;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367032	32367032	32367032	-
NM_014946.4(SPAST):c.1536+27dup	6683	SPAST	Benign	-1	RCV002982648;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32367034	32367035	NC_000002.11:g.32367042dup	-
NC_000002.11:g.(?_32368385)_(32370096_?)del	6683	SPAST	Pathogenic	-1	RCV001900395;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368385	32370096	-1	-
NC_000002.11:g.(?_32368385)_(32368504_?)del	6683	SPAST	Pathogenic	-1	RCV001956179;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368385	32368504	-1	-
NM_014946.4(SPAST):c.1537-11A>G	6683	SPAST	Likely pathogenic	549538513	RCV000685954;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368394	32368394	NC_000002.11:g.32368394A>G	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.12:g.(?_32143325)_(32147268_?)del	6683	SPAST	Pathogenic	-1	RCV001031385;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368394	32372337	-1	-
NM_014946.4(SPAST):c.1537-8T>G	6683	SPAST	Pathogenic	2148759354	RCV001533203;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368397	32368397	32368397	-
NM_014946.4(SPAST):c.1537-3C>G	6683	SPAST	Uncertain significance	2148759356	RCV001975664;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368402	32368402	32368402	-
NM_014946.4(SPAST):c.1537-1G>A	6683	SPAST	Pathogenic	1553319280	RCV001203793;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368404	32368404	2:g.32368404G>A	-
NM_014946.4(SPAST):c.1537A>T (p.Thr513Ser)	6683	SPAST	Uncertain significance	1553319281	RCV000644888;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368405	32368405	2:g.32368405A>T	ClinGen:CA346503573	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1538C>T (p.Thr513Ile)	6683	SPAST	Uncertain significance	2148759367	RCV001952692;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368406	32368406	32368406	-
NM_014946.4(SPAST):c.1538C>A (p.Thr513Lys)	6683	SPAST	Uncertain significance	-1	RCV002815985;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368406	32368406	NC_000002.11:g.32368406C>A	-
NM_014946.4(SPAST):c.1539_1540del (p.Arg514fs)	6683	SPAST	Pathogenic	2148759370	RCV001384665;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368407	32368408	32368406	-
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser)	6683	SPAST	Pathogenic	2148759388	RCV001391343;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368418	32368418	32368418	-
NM_014946.4(SPAST):c.1550T>G (p.Leu517Trp)	6683	SPAST	Pathogenic	-1	RCV002470180;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368418	32368418	NC_000002.11:g.32368418T>G	-
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)	6683	SPAST	Conflicting interpretations of pathogenicity	1553319290	RCV000995883\|RCV001664596;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32368421	32368421	2:g.32368421T>C	-
NM_014946.4(SPAST):c.1560_1561insTT (p.Leu521fs)	6683	SPAST	Pathogenic	2148759400	RCV001391344;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368427	32368428	32368427	-
NM_014946.4(SPAST):c.1561_1564del (p.Leu521fs)	6683	SPAST	Pathogenic	2148759407	RCV001391345;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368428	32368431	32368427	-
NM_014946.4(SPAST):c.1562dup (p.Leu522fs)	6683	SPAST	Pathogenic	2148759412	RCV001391346;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368429	32368430	32368429	-
NM_014946.4(SPAST):c.1567del (p.Cys523fs)	6683	SPAST	Likely pathogenic	-1	RCV003226069;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368435	32368435		-
NM_014946.4(SPAST):c.1573C>T (p.Gln525Ter)	6683	SPAST	Pathogenic	1553319296	RCV000644903;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368441	32368441	NC_000002.11:g.32368441C>T	ClinGen:CA346503744	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs)	6683	SPAST	Pathogenic	1553319298	RCV000644891\|RCV003314632;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32368442	32368445	NC_000002.11:g.32368445_32368448del	ClinGen:CA658795708	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1577G>A (p.Gly526Glu)	6683	SPAST	Uncertain significance	750991507	RCV002244186;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368445	32368445	32368445	-
NM_014946.4(SPAST):c.1583del (p.Pro528fs)	6683	SPAST	Pathogenic	1573167562	RCV000820480;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368450	32368450	2:g.32368450_32368450del	-
NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter)	6683	SPAST	Pathogenic	2148759447	RCV001391347;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368459	32368459	32368459	-
NM_014946.4(SPAST):c.1593A>G (p.Gln531=)	6683	SPAST	Benign/Likely benign	754291673	RCV001138718;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368461	32368461	NC_000002.11:g.32368461A>G	ClinGen:CA1600948	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1601del (p.Leu534fs)	6683	SPAST	Pathogenic	1553319318	RCV000517927\|RCV002525083;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368469	32368469	NC_000002.11:g.32368469delT	ClinGen:CA658657028	CN517202 not provided;
NM_014946.4(SPAST):c.1601T>C (p.Leu534Pro)	6683	SPAST	Pathogenic	1553319317	RCV001053054;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368469	32368469	2:g.32368469T>C	-
NM_014946.4(SPAST):c.1607_1609del (p.Gln536del)	6683	SPAST	Likely pathogenic	2148759471	RCV001730021;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368473	32368475	32368472	-
NM_014946.4(SPAST):c.1613C>A (p.Ala538Asp)	6683	SPAST	Uncertain significance	-1	RCV002470275;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368481	32368481	NC_000002.11:g.32368481C>A	-
NM_014946.4(SPAST):c.1614T>G (p.Ala538=)	6683	SPAST	Likely benign	-1	RCV002819649;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368482	32368482		-
NM_014946.4(SPAST):c.1616+1G>C	6683	SPAST	Pathogenic	1553319327	RCV000544321;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368485	32368485	2:g.32368485G>C	ClinGen:CA346503866	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1616+1G>A	6683	SPAST	Pathogenic/Likely pathogenic	1553319327	RCV001962918;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368485	32368485	32368485	-
NM_014946.4(SPAST):c.1616+5G>A	6683	SPAST	Pathogenic	2148759485	RCV001391348;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368489	32368489	32368489	-
NM_014946.4(SPAST):c.1616+18G>A	6683	SPAST	Likely benign	977979111	RCV002147970;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32368502	32368502	32368502	-
NM_014946.4(SPAST):c.1617-15_1624dup	6683	SPAST	Pathogenic	2148760797	RCV001391349;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32369990	32369991	32369990	-
NM_014946.4(SPAST):c.1617-15C>T	6683	SPAST	Likely benign	-1	RCV002904804;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32369991	32369991	NC_000002.11:g.32369991C>T	-
NC_000002.12:g.(?_32144927)_(32154506_?)del	6683	SPAST	Pathogenic	-1	RCV001031612;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32369996	32379575	-1	-
NM_014946.4(SPAST):c.1617-3C>T	6683	SPAST	Conflicting interpretations of pathogenicity	201212542	RCV001698451\|RCV001848998\|RCV001868071;	N	MedGen:C3661900\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370003	32370003	2:g.32370003C>T	ClinGen:CA1600972	CN169374 not specified;
NM_014946.4(SPAST):c.1617-2A>G	6683	SPAST	Pathogenic	1553319524	RCV000993067\|RCV001223606;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370004	32370004	2:g.32370004A>G	-
NM_014946.4(SPAST):c.1617-2A>T	6683	SPAST	Pathogenic	1553319524	RCV001391350;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370004	32370004	32370004	-
NM_014946.4(SPAST):c.1617-1G>A	6683	SPAST	Pathogenic	1553319526	RCV000696816;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370005	32370005	NC_000002.11:g.32370005G>A	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)	6683	SPAST	Conflicting interpretations of pathogenicity	142053576	RCV000199081\|RCV000486146\|RCV001193265\|RCV001795327;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789	2	32370014	32370014	2:g.32370014A>G	ClinGen:CA277520	CN169374 not specified;
NM_014946.4(SPAST):c.1632C>A (p.Tyr544Ter)	6683	SPAST	Pathogenic	-1	RCV003019259;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370021	32370021	NC_000002.11:g.32370021C>A	-
NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu)	6683	SPAST	Likely pathogenic	-1	RCV003079023;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370023	32370023	NC_000002.11:g.32370023C>T	-
NM_014946.4(SPAST):c.1636G>C (p.Gly546Arg)	6683	SPAST	Pathogenic	2148760843	RCV001918295;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370025	32370025	32370025	-
NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu)	6683	SPAST	Pathogenic	786204057	RCV000167918;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370026	32370026	NC_000002.11:g.32370026G>A	ClinGen:CA333996	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1637G>T (p.Gly546Val)	6683	SPAST	Likely pathogenic	786204057	RCV002005404;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370026	32370026	32370026	-
NM_014946.4(SPAST):c.1641T>C (p.Ser547=)	6683	SPAST	Likely benign	-1	RCV003046021;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370030	32370030		-
NM_014946.4(SPAST):c.1642G>C (p.Asp548His)	6683	SPAST	Likely pathogenic	-1	RCV002470498;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370031	32370031	NC_000002.11:g.32370031G>C	-
NC_000002.11:g.(?_32370032)_(32371757_?)del	6683	SPAST	Pathogenic	-1	RCV003119452;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370032	32371757		-
NM_014946.4(SPAST):c.1644C>T (p.Asp548=)	6683	SPAST	Likely benign	781455476	RCV001419214;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370033	32370033	32370033	-
NM_014946.4(SPAST):c.1646T>C (p.Leu549Pro)	6683	SPAST	Likely pathogenic	1553319534	RCV001209517;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370035	32370035	2:g.32370035T>C	-
NM_014946.4(SPAST):c.1646T>A (p.Leu549Gln)	6683	SPAST	Likely pathogenic	-1	RCV002857449;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370035	32370035	NC_000002.11:g.32370035T>A	-
NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile)	6683	SPAST	Conflicting interpretations of pathogenicity	1553319537	RCV000689829\|RCV001391566;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	2	32370038	32370038	2:g.32370038C>T	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1663G>C (p.Asp555His)	6683	SPAST	Uncertain significance	-1	RCV003337953;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370052	32370052		-
NM_014946.4(SPAST):c.1664A>C (p.Asp555Ala)	6683	SPAST	Uncertain significance	-1	RCV003447785;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370053	32370053		-
NM_014946.4(SPAST):c.1666G>C (p.Ala556Pro)	6683	SPAST	Pathogenic	1558341948	RCV000686016;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370055	32370055	2:g.32370055G>C	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1666G>A (p.Ala556Thr)	6683	SPAST	Likely pathogenic	1558341948	RCV000761357;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370055	32370055	NC_000002.11:g.32370055G>A	-
NM_014946.4(SPAST):c.1667C>T (p.Ala556Val)	6683	SPAST	Pathogenic	2148760886	RCV001391351;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370056	32370056	32370056	-
NM_014946.4(SPAST):c.1672C>G (p.Leu558Val)	6683	SPAST	Uncertain significance	-1	RCV002863324;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370061	32370061	NC_000002.11:g.32370061C>G	-
NM_014946.4(SPAST):c.1675G>C (p.Gly559Arg)	6683	SPAST	Pathogenic/Likely pathogenic	878854992	RCV000228683\|RCV002472978;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32370064	32370064	NC_000002.11:g.32370064G>C	ClinGen:CA10581970,UniProtKB:Q9UBP0#VAR_075849	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)	6683	SPAST	Conflicting interpretations of pathogenicity	864622179	RCV000205236\|RCV000432874\|RCV001847924;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32370065	32370065	NC_000002.11:g.32370065G>A	ClinGen:CA349419,UniProtKB:Q9UBP0#VAR_027226	CN517202 not provided;
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly)	6683	SPAST	Pathogenic	121908518	RCV000006027;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370073	32370073	2:g.32370073C>G	ClinGen:CA253566,UniProtKB:Q9UBP0#VAR_027227,OMIM:604277.0018	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)	6683	SPAST	Pathogenic	121908518	RCV000517099\|RCV000644889\|RCV001848905;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32370073	32370073	2:g.32370073C>T	ClinGen:CA346504288	CN517202 not provided;
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)	6683	SPAST	Pathogenic/Likely pathogenic	863224923	RCV000195806\|RCV001091364\|RCV001847904\|RCV003401083;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|	2	32370074	32370074	2:g.32370074G>A	ClinGen:CA278930,UniProtKB:Q9UBP0#VAR_027228	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
GRCh37/hg19 2p22.3(chr2:32372287-32372327)x2	6683	SPAST	Likely pathogenic	-1	RCV001726521;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370077	32379442	-1	-
NM_014946.4(SPAST):c.1687+15G>A	6683	SPAST	Uncertain significance	1679842413	RCV001138719;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32370091	32370091	2:g.32370091G>A	-
NM_014946.4(SPAST):c.1688-378_1728+1541del	6683	SPAST	Pathogenic	-1	RCV000203454;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32371908	32373867	2:g.32371908_32372006del	ClinGen:CA339671	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.11:g.(?_32372267)_(32372347_?)del	6683	SPAST	Pathogenic	-1	RCV001975086;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372267	32372347	-1	-
NC_000002.12:g.(?_32147208)_(32147268_?)dup	6683	SPAST	Pathogenic	-1	RCV001032136;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372277	32372337	-1	-
NM_014946.4(SPAST):c.1688-3C>T	6683	SPAST	Uncertain significance	1679915565	RCV001138720;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372284	32372284	2:g.32372284C>T	-
NM_014946.4(SPAST):c.1688-2A>G	6683	SPAST	Pathogenic	587777752	RCV000006015\|RCV001091365;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32372285	32372285	NC_000002.11:g.32372285A>G	ClinGen:CA253553,OMIM:604277.0005	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1688-1G>A	6683	SPAST	Pathogenic	1573174147	RCV000804703\|RCV002473146;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32372286	32372286	2:g.32372286G>A	-
NM_014946.4(SPAST):c.1688-1G>C	6683	SPAST	Pathogenic	1573174147	RCV001391352;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372286	32372286	32372286	-
NM_014946.4(SPAST):c.1691del (p.Leu564fs)	6683	SPAST	Pathogenic	2148762771	RCV002272878;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372290	32372290	32372289	-
NM_014946.4(SPAST):c.1701dup (p.Gln568fs)	6683	SPAST	Pathogenic	2148762787	RCV001994483;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372298	32372299	32372298	-
NM_014946.4(SPAST):c.1724_1725insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG	6683	SPAST	Likely pathogenic	2148762802	RCV001376855;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372306	32372307	32372306	-
NM_014946.4(SPAST):c.1714_1715del (p.Met572fs)	6683	SPAST	Pathogenic	2148762813	RCV002272996;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372311	32372312	32372310	-
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr)	6683	SPAST	Pathogenic	138146982	RCV001391353;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372314	32372314	32372314	-
NM_014946.4(SPAST):c.1728G>A (p.Glu576=)	6683	SPAST	Uncertain significance	1060502225	RCV000472451\|RCV000993068;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32372327	32372327	2:g.32372327G>A	ClinGen:CA16610765	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.11:g.(32372327_32379443)_(32379565_?)del	6683	SPAST	Pathogenic	-1	RCV001391420;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372327	32379565	-1	-
NM_014946.4(SPAST):c.1728G>T (p.Glu576Asp)	6683	SPAST	Uncertain significance	1060502225	RCV001288791\|RCV001871722;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372327	32372327	32372327	-
NM_014946.4(SPAST):c.1728+1G>C	6683	SPAST	Pathogenic	587777754	RCV000006019;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372328	32372328	NC_000002.11:g.32372328G>C	ClinGen:CA253557,OMIM:604277.0010	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1728+1G>A	6683	SPAST	Pathogenic	587777754	RCV000686758\|RCV003332228;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32372328	32372328	2:g.32372328G>A	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1728+1G>T	6683	SPAST	Pathogenic	587777754	RCV001382866;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372328	32372328	32372328	-
NM_014946.4(SPAST):c.1728+2T>G	6683	SPAST	Pathogenic	1553319874	RCV001382867;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372329	32372329	32372329	-
NM_014946.4(SPAST):c.1728+14_1728+15insTC	6683	SPAST	Likely benign	-1	RCV003030034;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372340	32372341	NC_000002.11:g.32372341_32372342insTC	-
NM_014946.4(SPAST):c.1728+16A>G	6683	SPAST	Benign/Likely benign	76494041	RCV000439290\|RCV001518630;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372343	32372343	2:g.32372343A>G	ClinGen:CA1601001	CN169374 not specified;
NM_014946.4(SPAST):c.1728+16A>C	6683	SPAST	Likely benign	-1	RCV003030035;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372343	32372343	NC_000002.11:g.32372343A>C	-
NM_014946.4(SPAST):c.1728+18_1728+19insGCAG	6683	SPAST	Likely benign	-1	RCV003030036;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372344	32372345	NC_000002.11:g.32372345_32372346insGCAG	-
Single allele	6683	SPAST	Pathogenic	-1	RCV000203475;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32372792	32389594	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203452;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32373679	32384445	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	6683	SPAST	Pathogenic	-1	RCV000203458;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32374427	32388831	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.1729-3331_*1641del	6683	SPAST	Pathogenic	-1	RCV000203497;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32376112	32381206	NC_000002.11:g.32376112_32381206del	ClinGen:CA339708	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_014946.4(SPAST):c.1729-884_*1715del	6683	SPAST	Pathogenic	-1	RCV000203494;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32378559	32381280	2:g.32378559_32378657del	ClinGen:CA339705	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NC_000002.12:g.32153843_32159343del	6683	SPAST	Pathogenic	-1	RCV000203496;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32378886	32384386		ClinGen:CA339707	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NC_000002.11:g.(?_32379423)_(32379565_?)del	6683	SPAST	Pathogenic	-1	RCV001941603;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379423	32379565	-1	-
NC_000002.11:g.(?_32379423)_(32379565_?)dup	6683	SPAST	Uncertain significance	-1	RCV003116808;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379423	32379565		-
NC_000002.12:g.(?_32154364)_(32154506_?)del	6683	SPAST	Pathogenic	-1	RCV000823237;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379433	32379575		-
NM_014946.4(SPAST):c.1729-5T>A	6683	SPAST	Uncertain significance	-1	RCV003148348;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379438	32379438		-
NM_014946.4(SPAST):c.1729-2A>G	6683	SPAST	Pathogenic	1553321194	RCV000699506;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379441	32379441	NC_000002.11:g.32379441A>G	-	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1729-1G>A	6683	SPAST	Pathogenic	1064793976	RCV000480764\|RCV000794493;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379442	32379442	2:g.32379442G>A	ClinGen:CA16617531	CN517202 not provided;
NM_014946.4(SPAST):c.1729-1G>C	6683	SPAST	Pathogenic	1064793976	RCV001533206;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379442	32379442	32379442	-
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del	6683	SPAST	Pathogenic	-1	RCV000168073;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379443	32379565		-
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg)	6683	SPAST	Likely pathogenic	1553321196	RCV000517986\|RCV000700492;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379444	32379444	2:g.32379444T>G	ClinGen:CA346505502	CN517202 not provided;
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)	6683	SPAST	Conflicting interpretations of pathogenicity	144594804	RCV000193599\|RCV000509114\|RCV000658865\|RCV001391562\|RCV001640291\|RCV001847874;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	2	32379449	32379449	NC_000002.11:g.32379449A>C	ClinGen:CA207191,UniProtKB:Q9UBP0#VAR_067653	CN517202 not provided;
NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)	6683	SPAST	Likely pathogenic	1259072587	RCV001290955;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379452	32379452	32379452	-
NM_014946.4(SPAST):c.1740del (p.Arg581fs)	6683	SPAST	Pathogenic	1680184249	RCV001038074;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379453	32379453	2:g.32379453_32379453del	-
NM_014946.4(SPAST):c.1739T>A (p.Ile580Asn)	6683	SPAST	Uncertain significance	-1	RCV002288302;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379453	32379453	32379453	-
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)	6683	SPAST	Pathogenic	778023258	RCV001391354\|RCV001847219\|RCV002473251;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:C3661900	2	32379455	32379455	32379455	-
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro)	6683	SPAST	Pathogenic	749484350	RCV001391355;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379456	32379456	32379456	-
NM_014946.4(SPAST):c.1742G>A (p.Arg581Gln)	6683	SPAST	Uncertain significance	749484350	RCV001892344;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379456	32379456	32379456	-
NM_014946.4(SPAST):c.1744T>C (p.Leu582=)	6683	SPAST	Conflicting interpretations of pathogenicity	886055962	RCV000309433;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379458	32379458	2:g.32379458T>C	ClinGen:CA10615315	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.1754T>C (p.Phe585Ser)	6683	SPAST	Likely pathogenic	2148769272	RCV002262167;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379468	32379468	32379468	-
NM_014946.4(SPAST):c.1755C>A (p.Phe585Leu)	6683	SPAST	Uncertain significance	778602122	RCV001203992;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379469	32379469	2:g.32379469C>A	-
NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro)	6683	SPAST	Likely pathogenic	1131691972	RCV000493133\|RCV002289681;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379476	32379476	2:g.32379476T>C	ClinGen:CA346505587	CN517202 not provided;
NM_014946.4(SPAST):c.1767del (p.Lys591_Ile592insTer)	6683	SPAST	Pathogenic	2148769284	RCV001391356;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379481	32379481	32379480	-
NM_014946.4(SPAST):c.1774dup (p.Ile592fs)	6683	SPAST	Pathogenic	1680185365	RCV001391357;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379481	32379482	32379481	-
NM_014946.4(SPAST):c.1774del (p.Lys591_Ile592insTer)	6683	SPAST	Pathogenic	1680185365	RCV001288792\|RCV002542997;	N	MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379482	32379482	32379481	-
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)	6683	SPAST	Pathogenic/Likely pathogenic	1553321237	RCV000644898\|RCV001508983;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202	2	32379489	32379489	2:g.32379489T>A	ClinGen:CA346505617	C1866855 182601 Spastic paraplegia 4, autosomal dominant;
NM_014946.4(SPAST):c.1780C>T (p.Arg594Cys)	6683	SPAST	Uncertain significance	1680185992	RCV001940320;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379494	32379494	32379494	-
NM_014946.4(SPAST):c.1781del (p.Arg594fs)	6683	SPAST	Pathogenic	2148769324	RCV001729990;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379495	32379495	32379494	-
NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn)	6683	SPAST	Conflicting interpretations of pathogenicity	2148769328	RCV001391576\|RCV002541652;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379498	32379498	32379498	-
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)	6683	SPAST	Conflicting interpretations of pathogenicity	145206063	RCV000585458\|RCV003233753;	N	MedGen:C3661900\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379499	32379499	2:g.32379499C>A	ClinGen:CA346505640	CN517202 not provided;
NM_014946.4(SPAST):c.1785C>G (p.Ser595Arg)	6683	SPAST	Likely pathogenic	145206063	RCV001063727;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379499	32379499	2:g.32379499C>G	-
NM_014946.4(SPAST):c.1785C>T (p.Ser595=)	6683	SPAST	Likely benign	145206063	RCV002186634;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379499	32379499	32379499	-
NM_014946.4(SPAST):c.1797A>G (p.Gln599=)	6683	SPAST	Likely benign	-1	RCV002654894;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379511	32379511		-
NM_014946.4(SPAST):c.1805A>C (p.Glu602Ala)	6683	SPAST	Uncertain significance	776152816	RCV000799691\|RCV003166183;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MeSH:D030342,MedGen:C0950123	2	32379519	32379519	2:g.32379519A>C	-
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val)	6683	SPAST	Uncertain significance	368801051	RCV001300707\|RCV001288794\|RCV001391564;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	2	32379522	32379522	32379522	-
NM_014946.4(SPAST):c.1809G>A (p.Ala603=)	6683	SPAST	Likely benign	769450158	RCV001506213;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379523	32379523	32379523	-
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val)	6683	SPAST	Uncertain significance	372900676	RCV000194626\|RCV000199776;	N	MedGen:CN169374\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379527	32379527	NC_000002.11:g.32379527A>G	ClinGen:CA208917	CN169374 not specified;
NM_014946.4(SPAST):c.1815_1816insGA (p.Arg606fs)	6683	SPAST	Pathogenic	-1	RCV002842445;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379528	32379529	NC_000002.11:g.32379529_32379530insGA	-
NM_014946.4(SPAST):c.1816C>T (p.Arg606Cys)	6683	SPAST	Uncertain significance	-1	RCV002926758;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379530	32379530	NC_000002.11:g.32379530C>T	-
NM_014946.4(SPAST):c.1817G>A (p.Arg606His)	6683	SPAST	Conflicting interpretations of pathogenicity	768077366	RCV001771832;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379531	32379531	32379531	-
NM_014946.4(SPAST):c.1834G>A (p.Gly612Arg)	6683	SPAST	Uncertain significance	-1	RCV002289477;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379548	32379548	32379548	-
NM_014946.4(SPAST):c.1838A>G (p.Asp613Gly)	6683	SPAST	Likely pathogenic	1553321269	RCV000986618;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379552	32379552	2:g.32379552A>G	-
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)	6683	SPAST	Pathogenic/Likely pathogenic	1573186691	RCV000986619\|RCV001847122;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32379555	32379555	2:g.32379555C>T	-
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)	6683	SPAST	Pathogenic/Likely pathogenic	1553321270	RCV001385100;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379563	32379563	32379563	-
NM_014946.4(SPAST):c.1849T>C (p.Ter617Gln)	6683	SPAST	Pathogenic	-1	RCV002913431;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379563	32379563	NC_000002.11:g.32379563T>C	-
NM_014946.4(SPAST):c.*19C>T	6683	SPAST	Uncertain significance	558483397	RCV000392093;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379584	32379584	2:g.32379584C>T	ClinGen:CA1601038	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*51A>G	6683	SPAST	Benign/Likely benign	6730121	RCV000315443\|RCV001555542;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32379616	32379616	2:g.32379616A>G	ClinGen:CA1601043	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*98A>G	6683	SPAST	Conflicting interpretations of pathogenicity	56272862	RCV000369220\|RCV001613093\|RCV001848693;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	2	32379663	32379663	2:g.32379663A>G	ClinGen:CA10615121	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*157A>C	6683	SPAST	Uncertain significance	886055963	RCV000260490;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379722	32379722	2:g.32379722A>C	ClinGen:CA10613231	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*195T>A	6683	SPAST	Uncertain significance	778599351	RCV001141304;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379760	32379760	2:g.32379760T>A	-
NM_014946.4(SPAST):c.*219C>T	6683	SPAST	Uncertain significance	1036761303	RCV001141305;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379784	32379784	2:g.32379784C>T	-
NM_014946.4(SPAST):c.*256A>G	6683	SPAST	Benign/Likely benign	6730400	RCV000356403\|RCV001551146;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32379821	32379821	2:g.32379821A>G	ClinGen:CA10613707	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*382G>A	6683	SPAST	Uncertain significance	570596299	RCV000321562;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32379947	32379947	2:g.32379947G>A	ClinGen:CA10613709	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*478G>T	6683	SPAST	Uncertain significance	886055966	RCV000376338;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380043	32380043	2:g.32380043G>T	ClinGen:CA10613232	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*494C>T	6683	SPAST	Uncertain significance	886055967	RCV000267728;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380059	32380059	2:g.32380059C>T	ClinGen:CA10615320	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*521A>G	6683	SPAST	Uncertain significance	886055968	RCV000322897;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380086	32380086	2:g.32380086A>G	ClinGen:CA10613233	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*533T>G	6683	SPAST	Uncertain significance	886055969	RCV000382185;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380098	32380098	2:g.32380098T>G	ClinGen:CA10615324	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*591A>T	6683	SPAST	Benign	115996749	RCV000288230;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380156	32380156	2:g.32380156A>T	ClinGen:CA10613235	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*765A>C	6683	SPAST	Benign	141666739	RCV000383698;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380330	32380330	NC_000002.11:g.32380330A>C	ClinGen:CA10613236	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*796T>G	6683	SPAST	Uncertain significance	1680216994	RCV001136597;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380361	32380361	2:g.32380361T>G	-
NM_014946.4(SPAST):c.*819C>T	6683	SPAST	Benign	186529600	RCV000348839;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380384	32380384	NC_000002.11:g.32380384C>T	ClinGen:CA10613237	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*892T>G	6683	SPAST	Uncertain significance	886055972	RCV000390318;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380457	32380457	NC_000002.11:g.32380457T>G	ClinGen:CA10613711	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1029G>A	6683	SPAST	Uncertain significance	1450820813	RCV001136598;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380594	32380594	2:g.32380594G>A	-
NM_014946.4(SPAST):c.*1156T>C	6683	SPAST	Likely benign	546193636	RCV000279709;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380721	32380721	NC_000002.11:g.32380721T>C	ClinGen:CA10615327	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1231C>T	6683	SPAST	Uncertain significance	886055974	RCV000398479;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380796	32380796	NC_000002.11:g.32380796C>T	ClinGen:CA10615334	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1279G>C	6683	SPAST	Uncertain significance	748353637	RCV001136599;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380844	32380844	2:g.32380844G>C	-
NM_014946.4(SPAST):c.*1376A>G	6683	SPAST	Conflicting interpretations of pathogenicity	575900032	RCV000299753\|RCV003422314;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32380941	32380941	NC_000002.11:g.32380941A>G	ClinGen:CA10613715	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1410T>G	6683	SPAST	Benign	75645928	RCV000358976;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32380975	32380975	NC_000002.11:g.32380975T>G	ClinGen:CA10615122	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1454G>C	6683	SPAST	Benign	147052682	RCV000393854;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381019	32381019	NC_000002.11:g.32381019G>C	ClinGen:CA10613716	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1476A>G	6683	SPAST	Conflicting interpretations of pathogenicity	760307887	RCV000305558\|RCV003409533;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32381041	32381041	NC_000002.11:g.32381041A>G	ClinGen:CA10615123	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1544G>T	6683	SPAST	Benign	6709048	RCV000325019;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381109	32381109	NC_000002.11:g.32381109G>T	ClinGen:CA10615124	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1545T>G	6683	SPAST	Benign	9789593	RCV000365577;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381110	32381110	NC_000002.11:g.32381110T>G	ClinGen:CA10615338	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1604G>A	6683	SPAST	Benign	192438402	RCV000271080;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381169	32381169	NC_000002.11:g.32381169G>A	ClinGen:CA10613243	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1731G>T	6683	SPAST	Uncertain significance	1309040715	RCV001138833;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381296	32381296	2:g.32381296G>T	-
NM_014946.4(SPAST):c.*1777G>A	6683	SPAST	Uncertain significance	886055976	RCV000330952;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381342	32381342	NC_000002.11:g.32381342G>A	ClinGen:CA10615125	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1783C>T	6683	SPAST	Uncertain significance	886055977	RCV000385455;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381348	32381348	NC_000002.11:g.32381348C>T	ClinGen:CA10613721	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1829C>T	6683	SPAST	Uncertain significance	886055978	RCV000295888;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381394	32381394	NC_000002.11:g.32381394C>T	ClinGen:CA10615339	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1858T>G	6683	SPAST	Uncertain significance	573241334	RCV000332202;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381423	32381423	NC_000002.11:g.32381423T>G	ClinGen:CA10613722	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1962A>G	6683	SPAST	Benign	187724468	RCV000373461;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381527	32381527	NC_000002.11:g.32381527A>G	ClinGen:CA10615127	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1963A>G	6683	SPAST	Benign	192476121	RCV000278863;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381528	32381528	NC_000002.11:g.32381528A>G	ClinGen:CA10613729	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1969A>T	6683	SPAST	Benign	533154653	RCV000338555;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381534	32381534	NC_000002.11:g.32381534A>T	ClinGen:CA10613245	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*1995A>G	6683	SPAST	Benign	540679757	RCV000400635;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381560	32381560	NC_000002.11:g.32381560A>G	ClinGen:CA10613730	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2150G>C	6683	SPAST	Benign	147721392	RCV000284575;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381715	32381715	2:g.32381715G>C	ClinGen:CA10615128	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2196A>T	6683	SPAST	Uncertain significance	886055979	RCV000400924;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381761	32381761	2:g.32381761A>T	ClinGen:CA10615130	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2264G>A	6683	SPAST	Benign	3769602	RCV000304584;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381829	32381829	2:g.32381829G>A	ClinGen:CA10613257	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2318G>A	6683	SPAST	Benign	141017850	RCV000364315\|RCV003311767;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32381883	32381883	2:g.32381883G>A	ClinGen:CA10613262	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2322T>G	6683	SPAST	Uncertain significance	530517245	RCV000407513;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381887	32381887	2:g.32381887T>G	ClinGen:CA10615135	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2399C>T	6683	SPAST	Benign	72796869	RCV000310827;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381964	32381964	2:g.32381964C>T	ClinGen:CA10613741	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2433A>G	6683	SPAST	Benign	569779105	RCV000365550;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32381998	32381998	2:g.32381998A>G	ClinGen:CA10613744	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2504A>G	6683	SPAST	Uncertain significance	886055980	RCV000275651;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382069	32382069	2:g.32382069A>G	ClinGen:CA10613746	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2583C>T	6683	SPAST	Benign	138968325	RCV000330700;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382148	32382148	2:g.32382148C>T	ClinGen:CA10613754	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2589T>G	6683	SPAST	Benign	149425698	RCV000371275;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382154	32382154	2:g.32382154T>G	ClinGen:CA10613756	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2658A>T	6683	SPAST	Uncertain significance	886055981	RCV000276757;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382223	32382223	NC_000002.11:g.32382223A>T	ClinGen:CA10613263	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2672T>C	6683	SPAST	Uncertain significance	1680279812	RCV001136696;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382237	32382237	2:g.32382237T>C	-
NM_014946.4(SPAST):c.*2737G>A	6683	SPAST	Uncertain significance	926197235	RCV001136697;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382302	32382302	2:g.32382302G>A	-
NM_014946.4(SPAST):c.*2779G>A	6683	SPAST	Uncertain significance	886055982	RCV000315680;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382344	32382344	2:g.32382344G>A	ClinGen:CA10613757	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2898C>T	6683	SPAST	Conflicting interpretations of pathogenicity	886055983	RCV000374971\|RCV003422315;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985\|MedGen:C3661900	2	32382463	32382463	2:g.32382463C>T	ClinGen:CA10615344	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2904C>T	6683	SPAST	Uncertain significance	534543205	RCV000280499;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382469	32382469	2:g.32382469C>T	ClinGen:CA10615136	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*2920T>C	6683	SPAST	Uncertain significance	1573191306	RCV001136698;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382485	32382485	2:g.32382485T>C	-
NM_014946.4(SPAST):c.*2987G>C	6683	SPAST	Uncertain significance	770713063	RCV000321502;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382552	32382552	2:g.32382552G>C	ClinGen:CA10615349	CN239430 Spastic paraplegia, autosomal dominant;
NM_014946.4(SPAST):c.*3013T>C	6683	SPAST	Benign	72796870	RCV000286460;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32382578	32382578	2:g.32382578T>C	ClinGen:CA10615138	CN239430 Spastic paraplegia, autosomal dominant;
NM_001083962.2(TCF4):c.1146+2T>C	6925	TCF4	Likely pathogenic	-1	RCV003314498;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	18	52924544	52924544		-
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)	6399	TRAPPC2	Pathogenic	587776751	RCV000128610\|RCV001268697\|RCV002286695;	N	MONDO:MONDO:0019667,MedGen:CN033239, Orphanet:93284\|MedGen:CN517202\|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	X	13734172	13734176	X:g.13734172_13734176del	ClinGen:CA269987,OMIM:300202.0004,OMIM:300202.0005	C3541456 313400 Spondyloepiphyseal dysplasia tarda;
Single allele	-1	YIPF4;BIRC6;TTC27;NLRC4;LTBP1;SPAST;SLC30A6	Pathogenic	-1	RCV000203490;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32348594	33632523	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	YIPF4;BIRC6;TTC27;SLC30A6;NLRC4;SPAST	Pathogenic	-1	RCV000203462;	N	MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601, Orphanet:100985	2	32327163	32886455	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;

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