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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: Retinal Degeneration (D012162)
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Spastic paraplegia 15, autosomal recessive (C536642)
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:

11372

Name:

Spastic paraplegia 15, autosomal recessive

Definition:

Alternative IDs:

OMIM:270700

ParentIDs:

MESH:D012162|MESH:D015419

TreeNumbers:

C10.500.300.820/C536642 |C10.574.500.495.820/C536642 |C10.668.829.800.300.820/C536642 |C11.270.612/C536642 |C11.768.585/C536642 |C16.131.666.300.820/C536642 |C16.320.400.375.820/C536642

Synonyms:

Kjellin syndrome |Recessive spastic paraplegia with retinal degeneration |Spastic paraplegia and retinal degeneration |SPG15

Slim Mappings:

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

Reference:

MedGen: C536642
MeSH: C536642
OMIM: 270700;
MSeqDR :
Genes: ZFYVE26;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001317	Abnormality of the cerebellum
3	HP:0001251	Ataxia
4	HP:0003487	Babinski sign
5	HP:0002607	Bowel incontinence
6	HP:0002169	Clonus
7	HP:0003693	Distal amyotrophy
8	HP:0001260	Dysarthria NAMDC: Dysarthria
9	HP:0002079	Hypoplasia of the corpus callosum
10	HP:0001249	Intellectual disability
11	HP:0007340	Lower limb muscle weakness
12	HP:0002061	Lower limb spasticity
13	HP:0000608	Macular degeneration
14	HP:0000720	Mood swings
15	HP:0000639	Nystagmus	HP:0040284
16	HP:0003477	Peripheral axonal neuropathy NAMDC: Neuropathy axonal	HP:0040284
17	HP:0001761	Pes cavus
18	HP:0003812	Phenotypic variability
19	HP:0003676	Progressive
20	HP:0000709	Psychosis
21	HP:0007663	Reduced visual acuity
22	HP:0002064	Spastic gait
23	HP:0001258	Spastic paraplegia
24	HP:0002839	Urinary bladder sphincter dysfunction
25	HP:0000020	Urinary incontinence
26	HP:0000012	Urinary urgency
27	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_015346.4(ZFYVE26):c.*1768C>T	23503	ZFYVE26	Benign	57048278	RCV000273524;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213385	68213385	14:g.68213385G>A	ClinGen:CA10635117	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*1764A>G	23503	ZFYVE26	Uncertain significance	1170281542	RCV001115084;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213389	68213389	14:g.68213389T>C	-
NM_015346.4(ZFYVE26):c.*1740C>A	23503	ZFYVE26	Benign	9449	RCV000333517;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213413	68213413	14:g.68213413G>T	ClinGen:CA10644583	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*1694C>A	23503	ZFYVE26	Uncertain significance	559412879	RCV001115085;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213459	68213459	14:g.68213459G>T	-
NM_015346.4(ZFYVE26):c.*1589T>A	23503	ZFYVE26	Uncertain significance	760292740	RCV001115086;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213564	68213564	14:g.68213564A>T	-
NM_015346.4(ZFYVE26):c.*1582G>A	23503	ZFYVE26	Benign	8017209	RCV000388011;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213571	68213571	14:g.68213571C>T	ClinGen:CA10640668	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*1543G>T	23503	ZFYVE26	Uncertain significance	755240265	RCV001115087;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213610	68213610	14:g.68213610C>A	-
NM_015346.4(ZFYVE26):c.*1481G>T	23503	ZFYVE26	Uncertain significance	1431529539	RCV001109448;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213672	68213672	14:g.68213672C>A	-
NM_015346.4(ZFYVE26):c.*1409C>T	23503	ZFYVE26	Benign	10288	RCV000270156;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213744	68213744	14:g.68213744G>A	ClinGen:CA10635120	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*1361T>C	23503	ZFYVE26	Benign	1044126	RCV000325247;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213792	68213792	14:g.68213792A>G	ClinGen:CA10644584	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*1214C>G	23503	ZFYVE26	Uncertain significance	187267330	RCV000384670;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68213939	68213939	14:g.68213939G>C	ClinGen:CA10644587	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*1133A>G	23503	ZFYVE26	Benign	73276687	RCV000290230;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214020	68214020	14:g.68214020T>C	ClinGen:CA10640671	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*1020A>G	23503	ZFYVE26	Uncertain significance	183946991	RCV001109449;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214133	68214133	14:g.68214133T>C	-
NM_015346.4(ZFYVE26):c.*1017T>G	23503	ZFYVE26	Uncertain significance	886050646	RCV000340637;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214136	68214136	14:g.68214136A>C	ClinGen:CA10640674	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*1009T>C	23503	ZFYVE26	Likely benign	78689507	RCV001111762;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214144	68214144	14:g.68214144A>G	-
NM_015346.4(ZFYVE26):c.*960G>A	23503	ZFYVE26	Uncertain significance	768581277	RCV000376570;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214193	68214193	14:g.68214193C>T	ClinGen:CA10644588	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*819C>T	23503	ZFYVE26	Uncertain significance	572957445	RCV000285705;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214334	68214334	14:g.68214334G>A	ClinGen:CA10635122	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*787G>T	23503	ZFYVE26	Uncertain significance	531905881	RCV001111763;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214366	68214366	14:g.68214366C>A	-
NM_015346.4(ZFYVE26):c.*786T>G	23503	ZFYVE26	Uncertain significance	886050647	RCV000336070;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214367	68214367	14:g.68214367A>C	ClinGen:CA10645776	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*783T>G	23503	ZFYVE26	Uncertain significance	907778338	RCV001111764;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214370	68214370	14:g.68214370A>C	-
NM_015346.4(ZFYVE26):c.*774G>A	23503	ZFYVE26	Uncertain significance	544883854	RCV000401810;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214379	68214379	14:g.68214379C>T	ClinGen:CA10644590	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*751C>G	23503	ZFYVE26	Uncertain significance	886050648	RCV000300827;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214402	68214402	NC_000014.8:g.68214402G>C	ClinGen:CA10635123	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*689T>C	23503	ZFYVE26	Uncertain significance	2038521628	RCV001112210;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214464	68214464	14:g.68214464A>G	-
NM_015346.4(ZFYVE26):c.*591C>T	23503	ZFYVE26	Uncertain significance	538229705	RCV000337006;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214562	68214562	NC_000014.8:g.68214562G>A	ClinGen:CA10640676	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*583C>T	23503	ZFYVE26	Conflicting interpretations of pathogenicity	72723172	RCV000391305\|RCV002262985;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900	14	68214570	68214570	NC_000014.8:g.68214570G>A	ClinGen:CA10640683	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*572G>A	23503	ZFYVE26	Uncertain significance	575157595	RCV001112211;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214581	68214581	14:g.68214581C>T	-
NM_015346.4(ZFYVE26):c.*551G>A	23503	ZFYVE26	Uncertain significance	886050649	RCV000311220;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214602	68214602	NC_000014.8:g.68214602C>T	ClinGen:CA10635124	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*493G>C	23503	ZFYVE26	Uncertain significance	894562166	RCV001112212;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214660	68214660	14:g.68214660C>G	-
NM_015346.4(ZFYVE26):c.*477C>T	23503	ZFYVE26	Uncertain significance	1012925455	RCV001112213;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214676	68214676	14:g.68214676G>A	-
NM_015346.4(ZFYVE26):c.*464C>A	23503	ZFYVE26	Uncertain significance	2038527345	RCV001112214;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214689	68214689	14:g.68214689G>T	-
NM_015346.4(ZFYVE26):c.*463T>A	23503	ZFYVE26	Uncertain significance	886050650	RCV000370581;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214690	68214690	NC_000014.8:g.68214690A>T	ClinGen:CA10640684	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*436C>A	23503	ZFYVE26	Uncertain significance	554486638	RCV001115186;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214717	68214717	14:g.68214717G>T	-
NM_015346.4(ZFYVE26):c.*411G>A	23503	ZFYVE26	Uncertain significance	376837091	RCV001115187;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214742	68214742	14:g.68214742C>T	-
NM_015346.4(ZFYVE26):c.*394G>A	23503	ZFYVE26	Likely benign	192149779	RCV001115188;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214759	68214759	14:g.68214759C>T	-
NM_015346.4(ZFYVE26):c.*365A>G	23503	ZFYVE26	Benign	12879105	RCV000275876;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214788	68214788	NC_000014.8:g.68214788T>C	ClinGen:CA10645780	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*307G>A	23503	ZFYVE26	Uncertain significance	142018207	RCV001115189;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214846	68214846	14:g.68214846C>T	-
NM_015346.4(ZFYVE26):c.*277G>A	23503	ZFYVE26	Uncertain significance	1003653826	RCV001115190;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214876	68214876	14:g.68214876C>T	-
NM_015346.4(ZFYVE26):c.*232G>T	23503	ZFYVE26	Uncertain significance	74752112	RCV001115191;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214921	68214921	14:g.68214921C>A	-
NM_015346.4(ZFYVE26):c.*209G>A	23503	ZFYVE26	Uncertain significance	755815597	RCV001109563;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214944	68214944	14:g.68214944C>T	-
NM_015346.4(ZFYVE26):c.*191T>C	23503	ZFYVE26	Uncertain significance	775283057	RCV001109564;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214962	68214962	14:g.68214962A>G	-
NM_015346.4(ZFYVE26):c.*182A>C	23503	ZFYVE26	Uncertain significance	550304997	RCV000307571;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68214971	68214971	NC_000014.8:g.68214971T>G	ClinGen:CA10644592	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*139A>G	23503	ZFYVE26	Uncertain significance	554425372	RCV001109565;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68215014	68215014	14:g.68215014T>C	-
NM_015346.4(ZFYVE26):c.*118G>A	23503	ZFYVE26	Uncertain significance	530515248	RCV001109566;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68215035	68215035	14:g.68215035C>T	-
NM_015346.4(ZFYVE26):c.*101G>A	23503	ZFYVE26	Uncertain significance	886050651	RCV000362381;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68215052	68215052	NC_000014.8:g.68215052C>T	ClinGen:CA10640686	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*88G>A	23503	ZFYVE26	Conflicting interpretations of pathogenicity	73276691	RCV000272454\|RCV001590939;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900	14	68215065	68215065	NC_000014.8:g.68215065C>T	ClinGen:CA10640687	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.*42G>C	23503	ZFYVE26	Uncertain significance	186672463	RCV000327246;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68215111	68215111	NC_000014.8:g.68215111C>G	ClinGen:CA7238900	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.7617G>A (p.Lys2539=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	550301037	RCV000377251\|RCV000877392\|RCV001848114;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C0	14	68215156	68215156	NC_000014.8:g.68215156C>T	ClinGen:CA7238907	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.7588C>T (p.Arg2530Trp)	23503	ZFYVE26	Uncertain significance	574871334	RCV000264127;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68215185	68215185	NC_000014.8:g.68215185G>A	ClinGen:CA7238913	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.7586C>G (p.Pro2529Arg)	23503	ZFYVE26	Benign/Likely benign	143198225	RCV000323942\|RCV000535406\|RCV001672499\|RCV001848115;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900\|MONDO:MONDO:0	14	68215187	68215187	NC_000014.8:g.68215187G>C	ClinGen:CA7238914	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.7533C>T (p.Ser2511=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	147494935	RCV000228666\|RCV000379338\|RCV001722259\|RCV001847998;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|MONDO:MONDO:0	14	68215240	68215240	NC_000014.8:g.68215240G>A	ClinGen:CA7238918	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7504C>T (p.Gln2502Ter)	23503	ZFYVE26	Uncertain significance	1555392776	RCV000667281;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68215269	68215269	14:g.68215269G>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.7434_7435del (p.Ile2478fs)	23503	ZFYVE26	Uncertain significance	1555392785	RCV000669969;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68215338	68215339	14:g.68215338_68215339del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.7417-5G>C	23503	ZFYVE26	Conflicting interpretations of pathogenicity	201771769	RCV000195780\|RCV000280192\|RCV000614268\|RCV001083657\|RCV001847894;	N	MedGen:C3661900\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68215361	68215361	NC_000014.8:g.68215361C>G	ClinGen:CA335934	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7416+6C>T	23503	ZFYVE26	Uncertain significance	371196543	RCV001118022\|RCV002558167;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68217763	68217763	14:g.68217763G>A	-
NM_015346.4(ZFYVE26):c.7416+2T>C	23503	ZFYVE26	Likely pathogenic	1555393005	RCV000673325;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68217767	68217767	14:g.68217767A>G	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.7413C>T (p.Asn2471=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	769245111	RCV000862705\|RCV001118023;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68217772	68217772	14:g.68217772G>A	-
NM_015346.4(ZFYVE26):c.7411A>G (p.Asn2471Asp)	23503	ZFYVE26	Uncertain significance	868606135	RCV000316483\|RCV000597555\|RCV001218115\|RCV002522316;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,	14	68217774	68217774	NC_000014.8:g.68217774T>C	ClinGen:CA10640695	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7407T>C (p.Asp2469=)	23503	ZFYVE26	Benign	35106153	RCV000233782\|RCV000375792\|RCV000430274\|RCV001083397\|RCV001847997;	N	MedGen:C3661900\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68217778	68217778	14:g.68217778A>G	ClinGen:CA7238966	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7390C>T (p.Gln2464Ter)	23503	ZFYVE26	Uncertain significance	1555393011	RCV000668957;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68217795	68217795	14:g.68217795G>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.7371+18C>T	23503	ZFYVE26	Benign/Likely benign	149769693	RCV000422150\|RCV001512188\|RCV002244910;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68219043	68219043	14:g.68219043G>A	ClinGen:CA7238991	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7371+1G>A	23503	ZFYVE26	Likely pathogenic	1555393181	RCV000673366;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68219060	68219060	14:g.68219060C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.7358G>C (p.Arg2453Thr)	23503	ZFYVE26	Uncertain significance	767313762	RCV001333860\|RCV002546656;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68219074	68219074	68219074	-
NM_015346.4(ZFYVE26):c.7350G>A (p.Ala2450=)	23503	ZFYVE26	Likely benign	370775301	RCV001452065\|RCV002476770;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68219082	68219082	68219082	-
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	147321202	RCV000597001\|RCV001118024\|RCV001405020;	N	MedGen:CN517202\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68219115	68219115	14:g.68219115G>A	ClinGen:CA7239008	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7270C>T (p.Gln2424Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309079;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68219162	68219162	68219162	-
NM_015346.4(ZFYVE26):c.7257del (p.Lys2418_Tyr2419insTer)	23503	ZFYVE26	Likely pathogenic	771393692	RCV000674314;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68219175	68219175	14:g.68219175_68219175del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.7248A>G (p.Lys2416=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	886050652	RCV000281442\|RCV000860554;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68219184	68219184	NC_000014.8:g.68219184T>C	ClinGen:CA10645790	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His)	23503	ZFYVE26	Benign/Likely benign	34373049	RCV000206230\|RCV000350454\|RCV000421147\|RCV001699234\|RCV001847939;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|MedGen:C36619	14	68219200	68219200	NC_000014.8:g.68219200C>T	ClinGen:CA350292	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	869312914	RCV000210660\|RCV000670105;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68219237	68219237	14:g.68219237G>A	ClinGen:CA358160	C0950123 Inborn genetic diseases;
NM_015346.4(ZFYVE26):c.7188+1G>A	23503	ZFYVE26	Likely pathogenic	1555393338	RCV000668581\|RCV002532076;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68220423	68220423	14:g.68220423C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.7129-19_7129-17dup	23503	ZFYVE26	Benign	111465559	RCV001514762\|RCV001719115\|RCV002245049;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68220499	68220500	14:g.68220499_68220500insATC	ClinGen:CA7239051	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7128+2T>A	23503	ZFYVE26	Pathogenic/Likely pathogenic	1049504575	RCV000666227\|RCV001390237;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68220786	68220786	14:g.68220786A>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.7075C>A (p.Pro2359Thr)	23503	ZFYVE26	Uncertain significance	747029622	RCV001119562;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68220841	68220841	14:g.68220841G>T	-
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	151166497	RCV000168361\|RCV000421762\|RCV000660475\|RCV001079938\|RCV001847797;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68220861	68220861	14:g.68220861G>A	ClinGen:CA334653	CN169374 not specified;
NM_015346.4(ZFYVE26):c.7050T>C (p.Ala2350=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	139364887	RCV000469415\|RCV001119563;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68220866	68220866	NC_000014.8:g.68220866A>G	ClinGen:CA7239076	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.7046del (p.Ser2349fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309429;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68220870	68220870	68220869	-
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	370837940	RCV000486430\|RCV000984321\|RCV001061340;	N	MedGen:CN517202\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68220875	68220875	14:g.68220875G>T	ClinGen:CA7239079	CN517202 not provided;
NM_015346.4(ZFYVE26):c.7031T>A (p.Leu2344Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309462;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68220885	68220885	68220885	-
NM_015346.4(ZFYVE26):c.7020_7027dup (p.Phe2343Ter)	23503	ZFYVE26	Pathogenic	2140183172	RCV001391440;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68220888	68220889	68220888	-
NM_015346.4(ZFYVE26):c.6987-1G>A	23503	ZFYVE26	Likely pathogenic	1555393393	RCV000668085;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68220930	68220930	14:g.68220930C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.6987-3C>T	23503	ZFYVE26	Benign/Likely benign	76728509	RCV000399465\|RCV000612290\|RCV000713440\|RCV001082334\|RCV001847996;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68220932	68220932	14:g.68220932G>A	ClinGen:CA7239083	CN169374 not specified;
NM_015346.4(ZFYVE26):c.6922C>T (p.Arg2308Cys)	23503	ZFYVE26	Uncertain significance	-1	RCV002994985\|RCV003138426;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68221832	68221832	NC_000014.8:g.68221832G>A	-
NM_015346.4(ZFYVE26):c.6921C>T (p.Ser2307=)	23503	ZFYVE26	Benign	35917338	RCV000296806\|RCV000419671\|RCV000713439\|RCV001083396\|RCV001847995;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68221833	68221833	14:g.68221833G>A	ClinGen:CA7239110	CN169374 not specified;
NM_015346.4(ZFYVE26):c.6918A>T (p.Thr2306=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	146227863	RCV000532359\|RCV001119564;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68221836	68221836	14:g.68221836T>A	ClinGen:CA7239112	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.6905A>G (p.Tyr2302Cys)	23503	ZFYVE26	Uncertain significance	199939197	RCV001121560\|RCV002556617;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68221849	68221849	14:g.68221849T>C	-
NM_015346.4(ZFYVE26):c.6898_6900delinsC (p.Lys2300fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306985;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68221854	68221856	68221854	-
NM_015346.4(ZFYVE26):c.6884_6885del (p.Ala2295fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309771;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68221869	68221870	68221868	-
NM_015346.4(ZFYVE26):c.6849A>G (p.Thr2283=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	74935043	RCV000351144\|RCV000861277\|RCV001718646;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900	14	68221905	68221905	NC_000014.8:g.68221905T>C	ClinGen:CA7239123	CN169374 not specified;
NM_015346.4(ZFYVE26):c.6819G>A (p.Arg2273=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	144007962	RCV000391713\|RCV000518776\|RCV000468012\|RCV001848116\|RCV001731593;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0	14	68221935	68221935	NC_000014.8:g.68221935C>T	ClinGen:CA7239129	CN169374 not specified;
NM_015346.4(ZFYVE26):c.6790C>T (p.Gln2264Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309873;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68221964	68221964	68221964	-
NM_015346.4(ZFYVE26):c.6702_6771del (p.Trp2234fs)	23503	ZFYVE26	Pathogenic	2140185342	RCV000000787;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222680	68222749	NC_000014.8:g.68222686_68222755del	OMIM:612012.0003	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.6738GAA[2] (p.Lys2248del)	23503	ZFYVE26	Uncertain significance	764479245	RCV000234444\|RCV000672350;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222705	68222707	14:g.68222705_68222707del	ClinGen:CA7239157	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.6736C>T (p.Gln2246Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309540;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222715	68222715	68222715	-
NM_015346.4(ZFYVE26):c.6713T>A (p.Leu2238Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309522;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222738	68222738	68222738	-
NM_015346.4(ZFYVE26):c.6692T>A (p.Leu2231Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309511;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222759	68222759	68222759	-
NM_015346.4(ZFYVE26):c.6659T>A (p.Leu2220Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309976;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222792	68222792	68222792	-
NM_015346.4(ZFYVE26):c.6649C>G (p.Leu2217Val)	23503	ZFYVE26	Uncertain significance	149104493	RCV001328900\|RCV001509460\|RCV001859252;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68222802	68222802	68222802	-
NM_015346.4(ZFYVE26):c.6629C>G (p.Pro2210Arg)	23503	ZFYVE26	Uncertain significance	776852185	RCV000307314\|RCV002520914;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MeSH:D030342,MedGen:C0950123	14	68222822	68222822	NC_000014.8:g.68222822G>C	ClinGen:CA7239164	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.6623del (p.Phe2208fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310581;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222828	68222828	68222827	-
NM_015346.4(ZFYVE26):c.6610del (p.Phe2203_Ile2204insTer)	23503	ZFYVE26	Pathogenic	2140185555	RCV001389898\|RCV001391439;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222841	68222841	68222840	-
NM_015346.4(ZFYVE26):c.6600delinsTG (p.Glu2201fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309626;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222851	68222851	68222851	-
NM_015346.4(ZFYVE26):c.6595C>T (p.Pro2199Ser)	23503	ZFYVE26	Uncertain significance	2038773649	RCV001121561;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68222856	68222856	14:g.68222856G>A	-
NM_015346.4(ZFYVE26):c.6540C>T (p.Tyr2180=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	142224979	RCV001121562\|RCV001487491;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68228131	68228131	14:g.68228131G>A	-
NM_015346.4(ZFYVE26):c.6486del (p.Glu2162fs)	23503	ZFYVE26	Uncertain significance	886050653	RCV000366633;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68228185	68228185	NC_000014.8:g.68228186del	ClinGen:CA10635129	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.6475TAC[1] (p.Tyr2160del)	23503	ZFYVE26	Uncertain significance	1555394298	RCV000671060;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68228191	68228193	14:g.68228191_68228193del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.6422C>T (p.Thr2141Met)	23503	ZFYVE26	Uncertain significance	-1	RCV003068794\|RCV003138485;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68228249	68228249	NC_000014.8:g.68228249G>A	-
NM_015346.4(ZFYVE26):c.6419G>A (p.Arg2140Gln)	23503	ZFYVE26	Uncertain significance	373855798	RCV000578311\|RCV001860004;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68228252	68228252	14:g.68228252C>T	ClinGen:CA7239224	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.6405G>A (p.Leu2135=)	23503	ZFYVE26	Benign/Likely benign	76327447	RCV000473369\|RCV000391726\|RCV002281083\|RCV000516966\|RCV001848117;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|MedGen:CN1693	14	68228266	68228266	NC_000014.8:g.68228266C>T	ClinGen:CA7239228	CN169374 not specified;
NM_015346.4(ZFYVE26):c.6397_6398del (p.Arg2133fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310018;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68228273	68228274	68228272	-
NM_015346.4(ZFYVE26):c.6339A>G (p.Leu2113=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	764363798	RCV000303700\|RCV001418774;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68228950	68228950	NC_000014.8:g.68228950T>C	ClinGen:CA7239259	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.6335A>T (p.Tyr2112Phe)	23503	ZFYVE26	Uncertain significance	2038950899	RCV001116678;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68228954	68228954	14:g.68228954T>A	-
NM_015346.4(ZFYVE26):c.6331G>T (p.Glu2111Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308311;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68228958	68228958	68228958	-
NM_015346.4(ZFYVE26):c.6278dup (p.Phe2094fs)	23503	ZFYVE26	Likely pathogenic	755756797	RCV001196684;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68229010	68229011	14:g.68229010_68229011insG	-
NM_015346.4(ZFYVE26):c.6276_6278del (p.Pro2093del)	23503	ZFYVE26	Uncertain significance	755756797	RCV000668726;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68229011	68229013	14:g.68229011_68229013del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.6261T>G (p.Ser2087Arg)	23503	ZFYVE26	Uncertain significance	762604883	RCV000698643\|RCV001116679;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68229028	68229028	14:g.68229028A>C	-	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.6253_6255del (p.Lys2085del)	23503	ZFYVE26	Uncertain significance	1555394387	RCV000673417\|RCV001849041;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	14	68229034	68229036	14:g.68229034_68229036del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.6242_6243del (p.Ala2081fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307100;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68229046	68229047	68229045	-
NM_015346.4(ZFYVE26):c.6229G>A (p.Gly2077Arg)	23503	ZFYVE26	Benign/Likely benign	140540720	RCV000227619\|RCV001116680\|RCV001582789\|RCV001847993;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|MONDO:MONDO:0	14	68229060	68229060	14:g.68229060C>T	ClinGen:CA7239277	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.6219C>A (p.Cys2073Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306690;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68229070	68229070	68229070	-
NM_015346.4(ZFYVE26):c.6160-13A>G	23503	ZFYVE26	Conflicting interpretations of pathogenicity	759043669	RCV000358380\|RCV002061162;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68229142	68229142	NC_000014.8:g.68229142T>C	ClinGen:CA7239292	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	756042888	RCV001383486\|RCV002476723;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68229404	68229404	68229404	-
NM_015346.4(ZFYVE26):c.6135C>T (p.Ala2045=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	146209388	RCV000268394\|RCV000427351\|RCV000633107;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68229413	68229413	NC_000014.8:g.68229413G>A	ClinGen:CA7239308	CN169374 not specified;
NM_015346.4(ZFYVE26):c.6115del (p.Arg2039fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310583;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68229433	68229433	68229432	-
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	139163400	RCV000198741\|RCV000343187\|RCV001116681\|RCV001705152\|RCV001847897;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C36619	14	68229462	68229462	NC_000014.8:g.68229462A>G	ClinGen:CA338151	CN169374 not specified;
NM_015346.4(ZFYVE26):c.6019A>G (p.Ser2007Gly)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	150497301	RCV000981783\|RCV001116682;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68229529	68229529	14:g.68229529T>C	-
NM_015346.4(ZFYVE26):c.6011+7G>A	23503	ZFYVE26	Conflicting interpretations of pathogenicity	149860093	RCV000316966\|RCV000872564;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68232937	68232937	NC_000014.8:g.68232937C>T	ClinGen:CA7239339	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.6006dup (p.Asp2003Ter)	23503	ZFYVE26	Likely pathogenic	1555394824	RCV000667979;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68232948	68232949	14:g.68232948_68232949insA	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.6004dup (p.Cys2002fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307074;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68232950	68232951	68232950	-
NM_015346.4(ZFYVE26):c.5996T>C (p.Leu1999Ser)	23503	ZFYVE26	Uncertain significance	2039054589	RCV001118122;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68232959	68232959	14:g.68232959A>G	-
NM_015346.4(ZFYVE26):c.5927C>T (p.Thr1976Met)	23503	ZFYVE26	Uncertain significance	149744465	RCV000818002\|RCV001118123\|RCV001585753\|RCV001849118;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN517202\|MONDO:MONDO:0	14	68233028	68233028	14:g.68233028G>A	-
NM_015346.4(ZFYVE26):c.5798G>C (p.Ser1933Thr)	23503	ZFYVE26	Uncertain significance	769794304	RCV000353045;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68233157	68233157	NC_000014.8:g.68233157C>G	ClinGen:CA7239380	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.5796C>T (p.Pro1932=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	2039062513	RCV001118124\|RCV001436457;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68233159	68233159	14:g.68233159G>A	-
NM_015346.4(ZFYVE26):c.5791-6G>A	23503	ZFYVE26	Conflicting interpretations of pathogenicity	771906344	RCV000670827\|RCV001267971\|RCV001849039\|RCV002531264;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Hu	14	68233170	68233170	14:g.68233170C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5767_5790+3dup	23503	ZFYVE26	Uncertain significance	1555394994	RCV000674224;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68234417	68234418	14:g.68234417_68234418insTACCTGCTCATAGTAAAATTCACTCCG	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5787G>T (p.Glu1929Asp)	23503	ZFYVE26	Uncertain significance	534207383	RCV001118125\|RCV002556511;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68234424	68234424	14:g.68234424C>A	-
NM_015346.4(ZFYVE26):c.5784T>C (p.Tyr1928=)	23503	ZFYVE26	Benign/Likely benign	34852231	RCV000262977\|RCV000604015\|RCV000713437\|RCV001082333\|RCV001847992;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68234427	68234427	14:g.68234427A>G	ClinGen:CA7239399	CN169374 not specified;
NM_015346.4(ZFYVE26):c.5762_5763insCGTC (p.Arg1923fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307960;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68234448	68234449	68234448	-
NM_015346.4(ZFYVE26):c.5735dup (p.Leu1912fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310506;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68234475	68234476	68234475	-
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs)	23503	ZFYVE26	Pathogenic/Likely pathogenic	868672014	RCV000670967\|RCV002532105;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68234496	68234496	14:g.68234496_68234496del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5690C>A (p.Ser1897Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308347;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68234521	68234521	68234521	-
NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	34952009	RCV000168014\|RCV000437692\|RCV001082302\|RCV001118126\|RCV001847789;	N	MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68234533	68234533	NC_000014.8:g.68234533C>A	ClinGen:CA334145	CN169374 not specified;
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)	23503	ZFYVE26	Benign	3742883	RCV000118901\|RCV000318199\|RCV000860188\|RCV001847738;	N	MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0	14	68234539	68234539	14:g.68234539T>C	ClinGen:CA156063	CN169374 not specified;
NM_015346.4(ZFYVE26):c.5653+16G>A	23503	ZFYVE26	Benign/Likely benign	140437859	RCV001733308\|RCV002073979\|RCV002243454;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68235218	68235218	68235218	-
NM_015346.4(ZFYVE26):c.5612G>A (p.Cys1871Tyr)	23503	ZFYVE26	Benign	61746722	RCV000435012\|RCV000713436\|RCV001082976\|RCV001119664\|RCV001847922;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68236320	68236320	14:g.68236320C>T	ClinGen:CA349776	CN169374 not specified;
NM_015346.4(ZFYVE26):c.5590_5592delinsA (p.Cys1864fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309251;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68236340	68236342	68236340	-
NM_015346.4(ZFYVE26):c.5585G>T (p.Arg1862Leu)	23503	ZFYVE26	Uncertain significance	140471625	RCV001119665;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68236347	68236347	14:g.68236347C>A	-
NM_015346.4(ZFYVE26):c.5581_5583del (p.Ala1861del)	23503	ZFYVE26	Uncertain significance	1555395254	RCV000666653;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68236349	68236351	14:g.68236349_68236351del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5568C>A (p.Cys1856Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308188;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68236364	68236364	68236364	-
NM_015346.4(ZFYVE26):c.5559_5563del (p.Glu1854fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309146;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68236369	68236373	68236368	-
NM_015346.4(ZFYVE26):c.5494C>T (p.Arg1832Cys)	23503	ZFYVE26	Uncertain significance	763540632	RCV001328899\|RCV001863194;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68236438	68236438	68236438	-
NM_015346.4(ZFYVE26):c.5485-1G>A	23503	ZFYVE26	Pathogenic	1594898627	RCV000000786;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68236448	68236448	14:g.68236448C>T	OMIM:612012.0002	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5485-2A>G	23503	ZFYVE26	Likely pathogenic	1555395288	RCV000674319;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68236449	68236449	14:g.68236449T>C	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5484+13G>A	23503	ZFYVE26	Conflicting interpretations of pathogenicity	140117984	RCV000292372\|RCV000438168\|RCV003401318\|RCV002056409;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68238751	68238751	NC_000014.8:g.68238751C>T	ClinGen:CA7239496	CN169374 not specified;
NM_015346.4(ZFYVE26):c.5484+1del	23503	ZFYVE26	Likely pathogenic	1555395525	RCV000668670;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68238763	68238763	14:g.68238763_68238763del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5484+1G>T	23503	ZFYVE26	Likely pathogenic	1555395524	RCV000666925;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68238763	68238763	14:g.68238763C>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5483T>A (p.Met1828Lys)	23503	ZFYVE26	Uncertain significance	2039223591	RCV001119666;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68238765	68238765	14:g.68238765A>T	-
NM_015346.4(ZFYVE26):c.5431C>T (p.Pro1811Ser)	23503	ZFYVE26	Uncertain significance	1012956419	RCV001971648\|RCV002471209;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68238817	68238817	68238817	-
NM_015346.4(ZFYVE26):c.5428dup (p.Val1810fs)	23503	ZFYVE26	Pathogenic	2140207402	RCV001785157;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68238819	68238820	68238819	-
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)	23503	ZFYVE26	Pathogenic	387907057	RCV001852032\|RCV000023921;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68238826	68238826	14:g.68238826G>A	ClinGen:CA129542,OMIM:612012.0006	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)	23503	ZFYVE26	Uncertain significance	138965635	RCV000233385\|RCV001535771\|RCV001729477;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900	14	68238847	68238847	14:g.68238847C>T	ClinGen:CA7239511	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.5350del (p.Arg1784fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309450;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68238898	68238898	68238897	-
NM_015346.4(ZFYVE26):c.5321-2A>G	23503	ZFYVE26	Likely pathogenic	1555395560	RCV000673002;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68238929	68238929	14:g.68238929T>C	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5321-3C>T	23503	ZFYVE26	Conflicting interpretations of pathogenicity	376234357	RCV000995199\|RCV001119667\|RCV001858809;	N	MedGen:C3661900\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68238930	68238930	14:g.68238930G>A	-
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)	23503	ZFYVE26	Uncertain significance	146968463	RCV000203761\|RCV000517780\|RCV000763939\|RCV001311360\|RCV001847926\|RCV002515515;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C36619	14	68241793	68241793	14:g.68241793C>T	ClinGen:CA348048	CN169374 not specified;
NM_015346.4(ZFYVE26):c.5239C>T (p.Gln1747Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309727;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68241814	68241814	68241814	-
NM_015346.4(ZFYVE26):c.5225C>G (p.Ser1742Cys)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	193244014	RCV000333316\|RCV000870022;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68241828	68241828	NC_000014.8:g.68241828G>C	ClinGen:CA7239557	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.5222-12C>G	23503	ZFYVE26	Conflicting interpretations of pathogenicity	764707646	RCV001121654\|RCV002069976;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68241843	68241843	14:g.68241843G>C	-
NM_015346.4(ZFYVE26):c.5216G>A (p.Arg1739Gln)	23503	ZFYVE26	Uncertain significance	201566214	RCV000387784\|RCV003238754;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900	14	68242582	68242582	NC_000014.8:g.68242582C>T	ClinGen:CA7239578	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter)	23503	ZFYVE26	Likely pathogenic	1214483973	RCV000671652;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242583	68242583	14:g.68242583G>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5179A>T (p.Lys1727Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310277;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242619	68242619	68242619	-
NM_015346.4(ZFYVE26):c.5146G>A (p.Glu1716Lys)	23503	ZFYVE26	Uncertain significance	529931011	RCV000288987;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242652	68242652	NC_000014.8:g.68242652C>T	ClinGen:CA7239582	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.5125_5127del (p.Glu1709del)	23503	ZFYVE26	Uncertain significance	1555396056	RCV000674931;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242671	68242673	14:g.68242671_68242673del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	143981992	RCV000343998\|RCV000408268\|RCV000633073\|RCV001571869\|RCV001848067;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C36619	14	68242677	68242677	14:g.68242677T>G	ClinGen:CA7239587	CN169374 not specified;
NM_015346.4(ZFYVE26):c.5112G>T (p.Leu1704=)	23503	ZFYVE26	Uncertain significance	200196596	RCV001121655;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242686	68242686	14:g.68242686C>A	-
NM_015346.4(ZFYVE26):c.5080G>C (p.Ala1694Pro)	23503	ZFYVE26	Uncertain significance	886050654	RCV000401124;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242718	68242718	NC_000014.8:g.68242718C>G	ClinGen:CA10645797	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.5064C>T (p.Asn1688=)	23503	ZFYVE26	Uncertain significance	886050655	RCV000290162;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242734	68242734	14:g.68242734G>A	ClinGen:CA10645804	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.5036del (p.Leu1679fs)	23503	ZFYVE26	Pathogenic	753426920	RCV002513211\|RCV000023920;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242762	68242762	14:g.68242762_68242762del	OMIM:612012.0005	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.4982_4983del (p.Leu1661fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310555;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68242815	68242816	68242814	-
NM_015346.4(ZFYVE26):c.4974+12C>T	23503	ZFYVE26	Conflicting interpretations of pathogenicity	200969714	RCV000340554\|RCV002056410;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68244264	68244264	14:g.68244264G>A	ClinGen:CA7239630	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.4974+5G>A	23503	ZFYVE26	Conflicting interpretations of pathogenicity	757204134	RCV000862946\|RCV001328898;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68244271	68244271	14:g.68244271C>T	-
NM_015346.4(ZFYVE26):c.4962T>A (p.Tyr1654Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308444;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68244288	68244288	68244288	-
NM_015346.4(ZFYVE26):c.4943G>A (p.Arg1648His)	23503	ZFYVE26	Uncertain significance	1358427099	RCV001116779;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68244307	68244307	14:g.68244307C>T	-
NM_015346.4(ZFYVE26):c.4855G>A (p.Asp1619Asn)	23503	ZFYVE26	Uncertain significance	566223708	RCV001116780\|RCV002556474;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MeSH:D030342,MedGen:C0950123	14	68244395	68244395	14:g.68244395C>T	-
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	151287975	RCV000443553\|RCV000466291\|RCV000604782\|RCV001171677\|RCV001848796;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C36619	14	68244396	68244396	14:g.68244396G>A	ClinGen:CA7239652	CN169374 not specified;
NM_015346.4(ZFYVE26):c.4846C>T (p.Gln1616Ter)	23503	ZFYVE26	Likely pathogenic	2140214976	RCV002272747;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68244404	68244404	68244404	-
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	558285072	RCV000665612\|RCV000823096\|RCV001730704;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|Human Phenotype Ontology:HP:0	14	68244446	68244446	NC_000014.8:g.68244446G>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.4798-1G>T	23503	ZFYVE26	Likely pathogenic	1555396303	RCV000669054;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68244453	68244453	14:g.68244453C>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.4783_4784del (p.Asp1595fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309211;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68244856	68244857	68244855	-
NM_015346.4(ZFYVE26):c.4734C>T (p.Ile1578=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	200243306	RCV000199016\|RCV001116781\|RCV001531198\|RCV001847893;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|MONDO:MONDO:0	14	68244906	68244906	NC_000014.8:g.68244906G>A	ClinGen:CA338345	CN169374 not specified;
NM_015346.4(ZFYVE26):c.4715_4716insCTATTAATGTC (p.Ile1572_Pro1573insTyrTer)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307880;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68244924	68244925	68244924	-
NM_015346.4(ZFYVE26):c.4694A>G (p.Glu1565Gly)	23503	ZFYVE26	Uncertain significance	759468816	RCV001848303\|RCV002506863\|RCV002545263;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype On	14	68244946	68244946	68244946	-
NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter)	23503	ZFYVE26	Pathogenic	763869212	RCV000989240\|RCV002549723;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68246999	68246999	14:g.68246999C>A	-
NM_015346.4(ZFYVE26):c.4606T>G (p.Trp1536Gly)	23503	ZFYVE26	Uncertain significance	2039465379	RCV001262388;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68247026	68247026	14:g.68247026A>C	-
NM_015346.4(ZFYVE26):c.4600_4602delinsA (p.Cys1534fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310336;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68247030	68247032	68247030	-
NM_015346.4(ZFYVE26):c.4592del (p.Pro1531fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308164;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68247040	68247040	68247039	-
NM_015346.4(ZFYVE26):c.4540A>T (p.Lys1514Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309745;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68248079	68248079	68248079	-
NM_015346.4(ZFYVE26):c.4522A>T (p.Lys1508Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309903;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68248097	68248097	68248097	-
NM_015346.4(ZFYVE26):c.4428dup (p.Leu1477fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309183;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68248190	68248191	68248190	-
NM_015346.4(ZFYVE26):c.4409_4410insAAGA (p.Asp1470fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309960;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68248209	68248210	68248209	-
NM_015346.4(ZFYVE26):c.4402G>A (p.Val1468Met)	23503	ZFYVE26	Uncertain significance	148925506	RCV000662134;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68248217	68248217	NC_000014.8:g.68248217C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.4401C>T (p.Pro1467=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	138543433	RCV000305594\|RCV001200593\|RCV000862747;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68248218	68248218	14:g.68248218G>A	ClinGen:CA7239770	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.4373-35G>A	23503	ZFYVE26	Benign	2235962	RCV001644153\|RCV002243350;	N	MedGen:C3661900\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68248281	68248281	68248281	-
NM_015346.4(ZFYVE26):c.4372+1_4372+3del	23503	ZFYVE26	Conflicting interpretations of pathogenicity	1555396965	RCV000670324\|RCV002531248;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68249494	68249496	14:g.68249494_68249496del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)	23503	ZFYVE26	Benign	2235967	RCV000118900\|RCV000860310\|RCV000989241\|RCV001847737;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0	14	68249499	68249499	14:g.68249499C>T	ClinGen:CA156061	CN169374 not specified;
NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter)	23503	ZFYVE26	Pathogenic	1594912625	RCV000989242\|RCV002549724;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68249510	68249510	14:g.68249510A>T	-
NM_015346.4(ZFYVE26):c.4341_4342delinsA (p.Asp1448fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309885;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249527	68249528	68249527	-
NM_015346.4(ZFYVE26):c.4339A>T (p.Lys1447Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306782;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249530	68249530	68249530	-
NM_015346.4(ZFYVE26):c.4338A>T (p.Ile1446=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	765803190	RCV000408075\|RCV002056411;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68249531	68249531	14:g.68249531T>A	ClinGen:CA7239793	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.4336A>G (p.Ile1446Val)	23503	ZFYVE26	Uncertain significance	773755777	RCV001116782\|RCV001241906;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68249533	68249533	14:g.68249533T>C	-
NM_015346.4(ZFYVE26):c.4324G>A (p.Asp1442Asn)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	534497092	RCV000197212\|RCV000298542\|RCV001847896\|RCV003401078;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0	14	68249545	68249545	NC_000014.8:g.68249545C>T	ClinGen:CA337036	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	118204049	RCV000000785\|RCV001035676\|RCV001555238;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900	14	68249557	68249557	14:g.68249557G>A	ClinGen:CA114476,OMIM:612012.0001	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.4308C>G (p.Tyr1436Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307973;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249561	68249561	68249561	-
NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	373740172	RCV000355669\|RCV000419450\|RCV000633053\|RCV001848118;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0	14	68249576	68249576	14:g.68249576C>G	ClinGen:CA7239804	CN169374 not specified;
NM_015346.4(ZFYVE26):c.4282_4283delinsT (p.Arg1428fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310176;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249586	68249587	68249586	-
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	148552744	RCV000341865\|RCV000860654\|RCV001118235\|RCV001848068\|RCV002518084;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0	14	68249605	68249605	14:g.68249605C>T	ClinGen:CA7239812	CN169374 not specified;
NM_015346.4(ZFYVE26):c.4262T>A (p.Leu1421Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308245;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249607	68249607	68249607	-
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	35018134	RCV000192964\|RCV000263238\|RCV000713435\|RCV001085598\|RCV001847876;	N	MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68249672	68249672	NC_000014.8:g.68249672G>A	ClinGen:CA206139	CN169374 not specified;
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)	23503	ZFYVE26	Pathogenic	370828455	RCV000191149\|RCV000633029\|RCV001847849;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C0	14	68249688	68249688	14:g.68249688C>T	ClinGen:CA250411	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.4177_4178insA (p.Gly1393fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306565;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249691	68249692	68249691	-
NM_015346.4(ZFYVE26):c.4153C>T (p.Gln1385Ter)	23503	ZFYVE26	Likely pathogenic	2039544464	RCV001196685;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249716	68249716	14:g.68249716G>A	-
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)	23503	ZFYVE26	Pathogenic	774809466	RCV000547814\|RCV000671739;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249737	68249737	NC_000014.8:g.68249737G>A	ClinGen:CA390170778	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.4122G>A (p.Trp1374Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306942;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249747	68249747	68249747	-
NM_015346.4(ZFYVE26):c.4103C>A (p.Ala1368Asp)	23503	ZFYVE26	Uncertain significance	886050656	RCV000329971;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249766	68249766	14:g.68249766G>T	ClinGen:CA10645823	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.4096_4099del (p.Phe1366fs)	23503	ZFYVE26	Pathogenic/Likely pathogenic	774867891	RCV001051811\|RCV003130125;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249770	68249773	14:g.68249770_68249773del	-
NM_015346.4(ZFYVE26):c.4089_4091del (p.Pro1364del)	23503	ZFYVE26	Uncertain significance	1487236153	RCV000669009;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249778	68249780	14:g.68249778_68249780del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.4072C>T (p.Arg1358Cys)	23503	ZFYVE26	Uncertain significance	754621080	RCV000368321\|RCV000817840;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68249797	68249797	NC_000014.8:g.68249797G>A	ClinGen:CA7239841	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.4066T>G (p.Cys1356Gly)	23503	ZFYVE26	Benign/Likely benign	149276487	RCV000276117\|RCV000469760\|RCV001848645\|RCV001083629;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Hu	14	68249803	68249803	14:g.68249803A>C	ClinGen:CA7239844	CN169374 not specified;
NM_015346.4(ZFYVE26):c.4061G>A (p.Arg1354Gln)	23503	ZFYVE26	Uncertain significance	-1	RCV002976104\|RCV003138421;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249808	68249808	NC_000014.8:g.68249808C>T	-
NM_015346.4(ZFYVE26):c.4035G>T (p.Val1345=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	374530573	RCV000333452\|RCV000442507\|RCV001848646\|RCV003311751\|RCV000860479;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontolo	14	68249834	68249834	14:g.68249834C>A	ClinGen:CA7239851	CN169374 not specified;
NM_015346.4(ZFYVE26):c.4024C>G (p.Arg1342Gly)	23503	ZFYVE26	Uncertain significance	368778263	RCV001848298\|RCV002243468\|RCV002545262;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype On	14	68249845	68249845	68249845	-
NM_015346.4(ZFYVE26):c.3973C>T (p.Pro1325Ser)	23503	ZFYVE26	Uncertain significance	150637611	RCV001119774\|RCV002556559;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68249896	68249896	14:g.68249896G>A	-
NM_015346.4(ZFYVE26):c.3970T>A (p.Ser1324Thr)	23503	ZFYVE26	Uncertain significance	776708469	RCV000380893\|RCV001243718\|RCV002522317;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123	14	68249899	68249899	14:g.68249899A>T	ClinGen:CA7239869	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.3960C>A (p.Cys1320Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309854;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249909	68249909	68249909	-
NM_015346.4(ZFYVE26):c.3932G>A (p.Arg1311His)	23503	ZFYVE26	Uncertain significance	367970314	RCV001119775\|RCV001246872;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68249937	68249937	14:g.68249937C>T	-
NM_015346.4(ZFYVE26):c.3925_3926del (p.Lys1309fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310410;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249943	68249944	68249942	-
NM_015346.4(ZFYVE26):c.3912C>G (p.Ala1304=)	23503	ZFYVE26	Uncertain significance	886050657	RCV000270045;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249957	68249957	14:g.68249957G>C	ClinGen:CA10644613	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.3893del (p.Pro1298fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309322;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68249976	68249976	68249975	-
NM_015346.4(ZFYVE26):c.3820A>G (p.Ser1274Gly)	23503	ZFYVE26	Uncertain significance	1348928561	RCV001292928\|RCV002543020;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68250049	68250049	68250049	-
NM_015346.4(ZFYVE26):c.3818C>T (p.Pro1273Leu)	23503	ZFYVE26	Uncertain significance	755456204	RCV000327496\|RCV002520915;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68250051	68250051	14:g.68250051G>A	ClinGen:CA7239901	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.3788A>T (p.His1263Leu)	23503	ZFYVE26	Uncertain significance	753068215	RCV001119776\|RCV001856570;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68250081	68250081	14:g.68250081T>A	-
NM_015346.4(ZFYVE26):c.3777_3779delinsT (p.His1260fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310344;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68250090	68250092	68250090	-
NM_015346.4(ZFYVE26):c.3757C>T (p.Leu1253=)	23503	ZFYVE26	Benign	34296097	RCV000384421\|RCV000435270\|RCV000460106\|RCV001848647;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0	14	68250112	68250112	14:g.68250112G>A	ClinGen:CA7239908	CN169374 not specified;
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	140756827	RCV000316714\|RCV000713434\|RCV001082500\|RCV001119777\|RCV001848065;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68250147	68250147	14:g.68250147C>T	ClinGen:CA7239917	CN169374 not specified;
NM_015346.4(ZFYVE26):c.3695G>A (p.Cys1232Tyr)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	150010519	RCV000860587\|RCV001121755;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68250174	68250174	14:g.68250174C>T	-
NM_015346.4(ZFYVE26):c.3684_3688del (p.Ser1229fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309943;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68250181	68250185	68250180	-
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)	23503	ZFYVE26	Pathogenic/Likely pathogenic	773333879	RCV001391438\|RCV001847222\|RCV001880211;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype On	14	68250226	68250227	68250226	-
NM_015346.4(ZFYVE26):c.3634del (p.Ala1212fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306875;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68250235	68250235	68250234	-
NM_015346.4(ZFYVE26):c.3626+1G>C	23503	ZFYVE26	Likely pathogenic	1555397310	RCV000670998;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68251050	68251050	14:g.68251050C>G	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3524-2A>G	23503	ZFYVE26	Likely pathogenic	1555397331	RCV000672660;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68251155	68251155	14:g.68251155T>C	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3463TTC[1] (p.Phe1156del)	23503	ZFYVE26	Uncertain significance	1555397452	RCV000673784;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68251831	68251833	14:g.68251831_68251833del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3416del (p.Gly1139fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309044;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68251883	68251883	68251882	-
NM_015346.4(ZFYVE26):c.3408_3409del (p.Asn1137fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306852;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68251890	68251891	68251889	-
NM_015346.4(ZFYVE26):c.3404A>G (p.Gln1135Arg)	23503	ZFYVE26	Uncertain significance	773669036	RCV001328897\|RCV002546285;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68251895	68251895	68251895	-
NM_015346.4(ZFYVE26):c.3394C>T (p.Gln1132Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310325;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68251905	68251905	68251905	-
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	988442865	RCV001391437\|RCV001847221\|RCV001880210;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype On	14	68251917	68251917	68251917	-
NM_015346.4(ZFYVE26):c.3366_3368delinsTGAGTCT (p.Ala1124fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310007;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68251931	68251933	68251931	-
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val)	23503	ZFYVE26	Benign	3742884	RCV000118899\|RCV000340303\|RCV000713433\|RCV001080548\|RCV001847736;	N	MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68251934	68251934	14:g.68251934G>A	ClinGen:CA156059	CN169374 not specified;
NM_015346.4(ZFYVE26):c.3314_3315delinsTTTCCTACCTTGA (p.Thr1105fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309815;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68251984	68251985	68251984	-
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu)	23503	ZFYVE26	Benign	3742885	RCV000118898\|RCV000378546\|RCV000475616\|RCV001573321\|RCV001847735;	N	MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C36619	14	68251991	68251991	14:g.68251991G>A	ClinGen:CA156057	CN169374 not specified;
NM_015346.4(ZFYVE26):c.3292_3294dup (p.Leu1098dup)	23503	ZFYVE26	Uncertain significance	763823801	RCV000674230;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252584	68252585	14:g.68252584_68252585insTAG	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3282_3293del (p.Arg1095_Leu1098del)	23503	ZFYVE26	Uncertain significance	753694248	RCV000670751;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252586	68252597	14:g.68252586_68252597del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3254delinsTTATACCTG (p.Gln1085fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309949;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252625	68252625	68252625	-
NM_015346.4(ZFYVE26):c.3210C>G (p.Pro1070=)	23503	ZFYVE26	Benign	7156492	RCV000118897\|RCV000286455\|RCV000713431\|RCV001079913\|RCV001847734;	N	MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68252669	68252669	14:g.68252669G>C	ClinGen:CA156055	CN169374 not specified;
NM_015346.4(ZFYVE26):c.3210C>T (p.Pro1070=)	23503	ZFYVE26	Benign/Likely benign	7156492	RCV000435856\|RCV000459638\|RCV001121756\|RCV001848777;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0	14	68252669	68252669	14:g.68252669G>A	ClinGen:CA7240052	CN169374 not specified;
NM_015346.4(ZFYVE26):c.3179_3180insTGA (p.Ser1060_Ile1061insAsp)	23503	ZFYVE26	Uncertain significance	1555397578	RCV000673818;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252699	68252700	14:g.68252699_68252700insTCA	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3172C>T (p.Arg1058Trp)	23503	ZFYVE26	Uncertain significance	200775182	RCV000690260\|RCV002470955;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252707	68252707	14:g.68252707G>A	-	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.3163_3164insCATCTTTTCTCTTCCTT (p.Gly1055fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310091;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252715	68252716	68252715	-
NM_015346.4(ZFYVE26):c.3139+2T>G	23503	ZFYVE26	Conflicting interpretations of pathogenicity	767164213	RCV000667647\|RCV000816370;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68252829	68252829	NC_000014.8:g.68252829A>C	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3139+1G>A	23503	ZFYVE26	Conflicting interpretations of pathogenicity	137907310	RCV000664865\|RCV001217814\|RCV002225709\|RCV002530639;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MeSH:D030342,	14	68252830	68252830	14:g.68252830C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3119_3120del (p.Ser1040fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309236;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252850	68252851	68252849	-
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr)	23503	ZFYVE26	Benign	112787369	RCV000118896\|RCV000464054\|RCV000625183\|RCV001847733;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0	14	68252852	68252852	14:g.68252852A>T	ClinGen:CA156053	CN169374 not specified;
NM_015346.4(ZFYVE26):c.3077TTC[1] (p.Leu1027del)	23503	ZFYVE26	Uncertain significance	1555397625	RCV000665339;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252888	68252890	14:g.68252888_68252890del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3070C>T (p.Pro1024Ser)	23503	ZFYVE26	Uncertain significance	267604032	RCV000672794;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252900	68252900	14:g.68252900G>A	ClinGen:CA10602379	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3061C>T (p.Arg1021Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	2039651443	RCV001226534\|RCV003130199;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252909	68252909	14:g.68252909G>A	-
NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	138895639	RCV000516415\|RCV000710228\|RCV001085997\|RCV001121757\|RCV001848909;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68252919	68252919	14:g.68252919A>G	ClinGen:CA7240084	CN169374 not specified;
NM_015346.4(ZFYVE26):c.3038_3039delinsGAGTCCTGGG (p.Val1013fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309564;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252931	68252932	68252931	-
NM_015346.4(ZFYVE26):c.3022C>T (p.Arg1008Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	766888372	RCV001219596\|RCV003329383;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252948	68252948	14:g.68252948G>A	-
NM_015346.4(ZFYVE26):c.3020-1G>A	23503	ZFYVE26	Likely pathogenic	1555397638	RCV000670210;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68252951	68252951	14:g.68252951C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.3020-2A>G	23503	ZFYVE26	Likely pathogenic	1470672632	RCV000671769\|RCV002532112;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68252952	68252952	14:g.68252952T>C	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2980A>G (p.Thr994Ala)	23503	ZFYVE26	Uncertain significance	1199967285	RCV001294120;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68256091	68256091	68256091	-
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	116890187	RCV000435814\|RCV000439576\|RCV001082969\|RCV001115192\|RCV001847795;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68256184	68256184	14:g.68256184C>G	ClinGen:CA334610	CN517202 not provided;
NM_015346.4(ZFYVE26):c.2859A>T (p.Leu953=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	189616103	RCV000301379\|RCV000860527\|RCV003409491;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900	14	68256212	68256212	NC_000014.8:g.68256212T>A	ClinGen:CA7240154	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.2852C>T (p.Thr951Met)	23503	ZFYVE26	Benign/Likely benign	35471427	RCV000349194\|RCV001079459\|RCV001848648\|RCV000713430\|RCV000440399;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C0	14	68256219	68256219	NC_000014.8:g.68256219G>A	ClinGen:CA7240156	CN169374 not specified;
NM_015346.4(ZFYVE26):c.2843_2844insTATAAGAGACAGT (p.Trp948fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307979;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68256227	68256228	68256227	-
NM_015346.4(ZFYVE26):c.2833G>T (p.Glu945Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309643;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68256238	68256238	68256238	-
NM_015346.4(ZFYVE26):c.2830C>T (p.Gln944Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306676;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68256241	68256241	68256241	-
NM_015346.4(ZFYVE26):c.2826G>A (p.Met942Ile)	23503	ZFYVE26	Benign/Likely benign	117367857	RCV000427004\|RCV000713429\|RCV001083228\|RCV001115193\|RCV001847931;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68256245	68256245	14:g.68256245C>T	ClinGen:CA350830	CN169374 not specified;
NM_015346.4(ZFYVE26):c.2777C>G (p.Ser926Cys)	23503	ZFYVE26	Uncertain significance	769154501	RCV001333859\|RCV002546655;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68256294	68256294	68256294	-
NM_015346.4(ZFYVE26):c.2716C>T (p.Arg906Cys)	23503	ZFYVE26	Uncertain significance	267604033	RCV000665181\|RCV002514320;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MeSH:D030342,MedGen:C0950123	14	68257328	68257328	14:g.68257328G>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2692A>T (p.Thr898Ser)	23503	ZFYVE26	Benign	17192170	RCV000392341\|RCV000461035\|RCV000434229;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374	14	68257352	68257352	NC_000014.8:g.68257352T>A	ClinGen:CA7240204	CN169374 not specified;
NM_015346.4(ZFYVE26):c.2680G>A (p.Ala894Thr)	23503	ZFYVE26	Uncertain significance	149203489	RCV000687559\|RCV000763940\|RCV002544781;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MeSH:D030342,MedGen:C0950123	14	68257364	68257364	14:g.68257364C>T	-	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.2644C>T (p.Gln882Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309786;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68257400	68257400	68257400	-
NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro)	23503	ZFYVE26	Pathogenic	2039789225	RCV001200049\|RCV002560270;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68257405	68257405	14:g.68257405A>G	-
NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer)	23503	ZFYVE26	Likely pathogenic	1555398241	RCV000669461;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68257419	68257419	14:g.68257419_68257419del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2619C>A (p.Tyr873Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310088;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68257425	68257425	68257425	-
NM_015346.4(ZFYVE26):c.2618_2619del (p.Tyr873fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310186;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68257425	68257426	68257424	-
NM_015346.4(ZFYVE26):c.2615_2617delinsTGAA (p.Arg872fs)	23503	ZFYVE26	Likely pathogenic	2039789839	RCV001095530;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68257427	68257429	14:g.68257427_68257428insTCA	-
NM_015346.4(ZFYVE26):c.2585C>G (p.Pro862Arg)	23503	ZFYVE26	Uncertain significance	138050875	RCV000559383\|RCV001731753\|RCV002525292;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MeSH:D030342,MedGen:C0950123	14	68257459	68257459	14:g.68257459G>C	ClinGen:CA7240220	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=)	23503	ZFYVE26	Benign	7143196	RCV000118895\|RCV000314307\|RCV000860311\|RCV001847732;	N	MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0	14	68257485	68257485	14:g.68257485C>T	ClinGen:CA156051	CN169374 not specified;
NM_015346.4(ZFYVE26):c.2554-1G>C	23503	ZFYVE26	Pathogenic/Likely pathogenic	760559263	RCV000578746\|RCV000665774\|RCV001853838;	N	MedGen:CN517202\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68257491	68257491	14:g.68257491C>G	ClinGen:CA7240229	CN517202 not provided;
NM_015346.4(ZFYVE26):c.2554-2A>G	23503	ZFYVE26	Likely pathogenic	1186788102	RCV000671376\|RCV001379655;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68257492	68257492	14:g.68257492T>C	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2548C>T (p.His850Tyr)	23503	ZFYVE26	Uncertain significance	1223858681	RCV001115194;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68260330	68260330	14:g.68260330G>A	-
NM_015346.4(ZFYVE26):c.2539G>A (p.Ala847Thr)	23503	ZFYVE26	Uncertain significance	570114196	RCV001115195\|RCV002291722;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900	14	68260339	68260339	14:g.68260339C>T	-
NM_015346.4(ZFYVE26):c.2481C>A (p.Pro827=)	23503	ZFYVE26	Benign/Likely benign	139283212	RCV000371336\|RCV000861505;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68260397	68260397	NC_000014.8:g.68260397G>T	ClinGen:CA7240265	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs)	23503	ZFYVE26	Pathogenic	768176054	RCV000494368\|RCV000664781\|RCV001036170;	N	MedGen:CN517202\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68260428	68260428	NC_000014.8:g.68260429del	ClinGen:CA7240272	CN517202 not provided;
NM_015346.4(ZFYVE26):c.2427C>T (p.Gly809=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	144063215	RCV000269255\|RCV000612844\|RCV000867636;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68260451	68260451	NC_000014.8:g.68260451G>A	ClinGen:CA7240277	CN169374 not specified;
NM_015346.4(ZFYVE26):c.2420T>C (p.Met807Thr)	23503	ZFYVE26	Uncertain significance	757561899	RCV000308544;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68260458	68260458	NC_000014.8:g.68260458A>G	ClinGen:CA7240281	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.2401+13C>G	23503	ZFYVE26	Conflicting interpretations of pathogenicity	77104978	RCV001118337\|RCV001551743\|RCV002069912;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68260875	68260875	14:g.68260875G>C	-
NM_015346.4(ZFYVE26):c.2401+11T>A	23503	ZFYVE26	Conflicting interpretations of pathogenicity	191741115	RCV000365485\|RCV002056412\|RCV001705470;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900	14	68260877	68260877	NC_000014.8:g.68260877A>T	ClinGen:CA7240302	CN169374 not specified;
NM_015346.4(ZFYVE26):c.2401+1G>T	23503	ZFYVE26	Likely pathogenic	1555398778	RCV000665760;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68260887	68260887	14:g.68260887C>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)	23503	ZFYVE26	Uncertain significance	-1	RCV002470363\|RCV002473392\|RCV002571486;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68260950	68260950	NC_000014.8:g.68260950C>T	-
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	941230062	RCV000671734\|RCV001855566;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68260951	68260951	14:g.68260951G>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2333-1G>C	23503	ZFYVE26	Likely pathogenic	746606852	RCV000671378;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68260957	68260957	14:g.68260957C>G	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2332+7del	23503	ZFYVE26	Benign/Likely benign	145183291	RCV000273223\|RCV001081386\|RCV000494068\|RCV002244795\|RCV000713428\|RCV001848649;	N	MedGen:CN239433\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68264382	68264382	NC_000014.8:g.68264382del	ClinGen:CA7240333	CN169374 not specified;
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	1057518016	RCV000413277\|RCV000664216\|RCV001383171;	N	MedGen:CN517202\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68264467	68264467	14:g.68264467G>A	ClinGen:CA16042934	CN517202 not provided;
NM_015346.4(ZFYVE26):c.2248+2T>C	23503	ZFYVE26	Likely pathogenic	1555399278	RCV000674317;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264729	68264729	14:g.68264729A>G	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2222del (p.Lys741fs)	23503	ZFYVE26	Likely pathogenic	1555399288	RCV000578441;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264757	68264757	14:g.68264757_68264757del	ClinGen:CA658683878	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2196_2198del (p.Val733del)	23503	ZFYVE26	Likely pathogenic	1555399289	RCV000664217;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264781	68264783	14:g.68264781_68264783del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter)	23503	ZFYVE26	Likely pathogenic	981804211	RCV000668831;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264797	68264797	14:g.68264797G>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.2149G>T (p.Gly717Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308152;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264830	68264830	68264830	-
NM_015346.4(ZFYVE26):c.2114dup (p.Pro705_Glu706insTer)	23503	ZFYVE26	Pathogenic	1279863038	RCV001387358\|RCV003152764;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264864	68264865	68264864	-
NM_015346.4(ZFYVE26):c.2112T>C (p.Pro704=)	23503	ZFYVE26	Benign	12891164	RCV000860189\|RCV001528443\|RCV002245710;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264867	68264867	14:g.68264867A>G	-
NM_015346.4(ZFYVE26):c.2111C>T (p.Pro704Leu)	23503	ZFYVE26	Uncertain significance	2039996922	RCV001118338;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264868	68264868	14:g.68264868G>A	-
NM_015346.4(ZFYVE26):c.2105G>A (p.Arg702His)	23503	ZFYVE26	Benign/Likely benign	201339450	RCV000321297\|RCV000860611\|RCV002469128\|RCV001848650;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900\|MONDO:MONDO:0	14	68264874	68264874	NC_000014.8:g.68264874C>T	ClinGen:CA7240399	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.2074del (p.Leu692fs)	23503	ZFYVE26	Pathogenic	2039997846	RCV001095484;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264905	68264905	14:g.68264905_68264905del	-
NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	141880939	RCV000174133\|RCV000710227\|RCV001083591\|RCV001119875;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68264912	68264912	14:g.68264912G>A	ClinGen:CA200844	CN169374 not specified;
NM_015346.4(ZFYVE26):c.2030del (p.Gly677fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308142;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264949	68264949	68264948	-
NM_015346.4(ZFYVE26):c.2025_2026del (p.Ile675fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306485;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264953	68264954	68264952	-
NM_015346.4(ZFYVE26):c.2010C>G (p.His670Gln)	23503	ZFYVE26	Uncertain significance	749925808	RCV000378170\|RCV000713427\|RCV001244896;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68264969	68264969	NC_000014.8:g.68264969G>C	ClinGen:CA7240411	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.2006_2007del (p.Lys669fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310099;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264972	68264973	68264971	-
NM_015346.4(ZFYVE26):c.1986_1988delinsACACTCAG (p.Phe665fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309432;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264991	68264993	68264991	-
NM_015346.4(ZFYVE26):c.1980del (p.His661fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309291;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68264999	68264999	68264998	-
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)	23503	ZFYVE26	Pathogenic	2040001177	RCV001384569\|RCV001391436;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265008	68265008	68265008	-
NM_015346.4(ZFYVE26):c.1926_1941del (p.Tyr643fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV003447658;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265038	68265053		-
NM_015346.4(ZFYVE26):c.1933A>G (p.Met645Val)	23503	ZFYVE26	Benign/Likely benign	77129887	RCV000426113\|RCV000464839\|RCV001119876\|RCV001848776;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0	14	68265046	68265046	14:g.68265046T>C	ClinGen:CA7240420	CN169374 not specified;
NM_015346.4(ZFYVE26):c.1928_1930delinsT (p.Tyr643fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306663;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265049	68265051	68265049	-
NM_015346.4(ZFYVE26):c.1927del (p.Tyr643fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310073;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265052	68265052	68265051	-
NM_015346.4(ZFYVE26):c.1879_1880del (p.Glu627fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308367;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265099	68265100	68265098	-
NM_015346.4(ZFYVE26):c.1870G>A (p.Ala624Thr)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	531152715	RCV000867110\|RCV001119877\|RCV001847071\|RCV003411847;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0	14	68265109	68265109	14:g.68265109C>T	-
NM_015346.4(ZFYVE26):c.1844C>T (p.Ser615Phe)	23503	ZFYVE26	Benign/Likely benign	117228915	RCV000443773\|RCV000713424\|RCV001079898\|RCV001119878\|RCV001847921;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:1009	14	68265135	68265135	NC_000014.8:g.68265135G>A	ClinGen:CA348490	CN169374 not specified;
NM_015346.4(ZFYVE26):c.1838T>G (p.Leu613Trp)	23503	ZFYVE26	Uncertain significance	758520387	RCV001733678;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265141	68265141	68265141	-
NM_015346.4(ZFYVE26):c.1816G>T (p.Glu606Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306949;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265163	68265163	68265163	-
NM_015346.4(ZFYVE26):c.1763_1765del (p.Asp588_Leu589delinsVal)	23503	ZFYVE26	Uncertain significance	1555399428	RCV000664638;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265214	68265216	14:g.68265214_68265216del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.1651C>G (p.Leu551Val)	23503	ZFYVE26	Uncertain significance	886050658	RCV000267189;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68265328	68265328	NC_000014.8:g.68265328G>C	ClinGen:CA10640716	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.1617G>A (p.Ala539=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	771594278	RCV001119879\|RCV001465280;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68268818	68268818	14:g.68268818C>T	-
NM_015346.4(ZFYVE26):c.1597G>A (p.Ala533Thr)	23503	ZFYVE26	Benign/Likely benign	551062468	RCV000863732\|RCV001121860\|RCV001847044;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0	14	68268838	68268838	14:g.68268838C>T	-
NM_015346.4(ZFYVE26):c.1574_1575insG (p.Asp526fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308091;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68268860	68268861	68268860	-
NM_015346.4(ZFYVE26):c.1564C>T (p.Gln522Ter)	23503	ZFYVE26	Pathogenic	2040089822	RCV001333858;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68268871	68268871	68268871	-
NM_015346.4(ZFYVE26):c.1557_1558delinsT (p.Gln520fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309794;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68268877	68268878	68268877	-
NM_015346.4(ZFYVE26):c.1550_1551insCT (p.Gln517fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309536;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68268884	68268885	68268884	-
NM_015346.4(ZFYVE26):c.1526A>G (p.Tyr509Cys)	23503	ZFYVE26	Uncertain significance	767673365	RCV000196971\|RCV003137785;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68268909	68268909	14:g.68268909T>C	ClinGen:CA336866	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.1477C>T (p.Gln493Ter)	23503	ZFYVE26	Pathogenic	118204050	RCV000000788;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68268958	68268958	14:g.68268958G>A	ClinGen:CA114478,OMIM:612012.0004	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.1436-1G>A	23503	ZFYVE26	Likely pathogenic	545219731	RCV000669956\|RCV002532092;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68269000	68269000	14:g.68269000C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.1435+8G>A	23503	ZFYVE26	Conflicting interpretations of pathogenicity	779576115	RCV000869037\|RCV001121861\|RCV001847081;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0	14	68270810	68270810	14:g.68270810C>T	-
NM_015346.4(ZFYVE26):c.1397T>A (p.Leu466Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306583;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68270856	68270856	68270856	-
NM_015346.4(ZFYVE26):c.1387C>T (p.Leu463Phe)	23503	ZFYVE26	Uncertain significance	556064894	RCV001121862\|RCV001847165\|RCV002556622\|RCV002558205;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype On	14	68270866	68270866	14:g.68270866G>A	-
NM_015346.4(ZFYVE26):c.1369C>G (p.Leu457Val)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	201917832	RCV000324829\|RCV000863809\|RCV001565240\|RCV001660640;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MedGen:CN1693	14	68270884	68270884	NC_000014.8:g.68270884G>C	ClinGen:CA7240542	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.1356_1359del (p.Asn453fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309446;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68270894	68270897	68270893	-
NM_015346.4(ZFYVE26):c.1342C>T (p.Leu448Phe)	23503	ZFYVE26	Uncertain significance	-1	RCV003008994\|RCV002999540\|RCV003138430;	N	MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68270911	68270911	NC_000014.8:g.68270911G>A	-
NM_015346.4(ZFYVE26):c.1328C>A (p.Ser443Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309627;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68270925	68270925	68270925	-
NM_015346.4(ZFYVE26):c.1293T>A (p.Asp431Glu)	23503	ZFYVE26	Uncertain significance	747236724	RCV001733677;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68270960	68270960	68270960	-
NM_015346.4(ZFYVE26):c.1277_1278delinsTTGAAATACAGT (p.Pro426fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307231;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68270975	68270976	68270975	-
NM_015346.4(ZFYVE26):c.1272-10T>C	23503	ZFYVE26	Conflicting interpretations of pathogenicity	773153713	RCV001121863\|RCV001485589\|RCV002291723;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	14	68270991	68270991	14:g.68270991A>G	-
NM_015346.4(ZFYVE26):c.1254dup (p.Cys419fs)	23503	ZFYVE26	Pathogenic	-1	RCV002284296;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68271950	68271951	68271950	-
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=)	23503	ZFYVE26	Benign	17104689	RCV000118894\|RCV000372381\|RCV000713423\|RCV001083221\|RCV001847731;	N	MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68271981	68271981	14:g.68271981C>A	ClinGen:CA156049	CN169374 not specified;
NM_015346.4(ZFYVE26):c.1214C>G (p.Ala405Gly)	23503	ZFYVE26	Uncertain significance	767366135	RCV001121864\|RCV002556623\|RCV003163274;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123	14	68271991	68271991	14:g.68271991G>C	-
NM_015346.4(ZFYVE26):c.1201CTC[1] (p.Leu402del)	23503	ZFYVE26	Uncertain significance	1555400034	RCV000672687;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68271999	68272001	14:g.68271999_68272001del	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.1198G>T (p.Glu400Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306458;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68272007	68272007	68272007	-
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	35512910	RCV000279394\|RCV000512998\|RCV000517033\|RCV001082592\|RCV001847798;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68272021	68272021	14:g.68272021C>A	ClinGen:CA334758	CN517202 not provided;
NM_015346.4(ZFYVE26):c.1161C>G (p.Leu387=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	60184489	RCV001115290\|RCV001416999;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68272192	68272192	14:g.68272192G>C	-
NM_015346.4(ZFYVE26):c.1159C>T (p.Leu387Phe)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	76738736	RCV000865965\|RCV001115291;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68272194	68272194	14:g.68272194G>A	-
NM_015346.4(ZFYVE26):c.1064G>A (p.Gly355Asp)	23503	ZFYVE26	Uncertain significance	-1	RCV002638894\|RCV003138315\|RCV003357964;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MeSH:D030342,MedGen:C0950123	14	68272289	68272289	NC_000014.8:g.68272289C>T	-
NM_015346.4(ZFYVE26):c.1054_1055insTGTCTCTTATACACAT (p.Pro352fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002306835;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68272298	68272299	68272298	-
NM_015346.4(ZFYVE26):c.1051_1052insCATTCCA (p.Phe351fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309531;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68272301	68272302	68272301	-
NM_015346.4(ZFYVE26):c.1020_1021del (p.Thr341fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307301;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68272332	68272333	68272331	-
NM_015346.4(ZFYVE26):c.1017+1G>T	23503	ZFYVE26	Likely pathogenic	1224762841	RCV000668837\|RCV001855508;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68273261	68273261	14:g.68273261C>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.991A>G (p.Asn331Asp)	23503	ZFYVE26	Likely benign	199630965	RCV000200346\|RCV000418419\|RCV002492913;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68273288	68273288	14:g.68273288T>C	ClinGen:CA339255	CN169374 not specified;
NM_015346.4(ZFYVE26):c.961A>C (p.Lys321Gln)	23503	ZFYVE26	Uncertain significance	375820273	RCV001115292\|RCV002558144\|RCV003232216;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	14	68273318	68273318	14:g.68273318T>G	-
NM_015346.4(ZFYVE26):c.956C>T (p.Ala319Val)	23503	ZFYVE26	Uncertain significance	765552636	RCV000336810\|RCV002522319;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68273323	68273323	NC_000014.8:g.68273323G>A	ClinGen:CA7240653	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.944del (p.Asn315fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309541;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68273335	68273335	68273334	-
NM_015346.4(ZFYVE26):c.894G>A (p.Pro298=)	23503	ZFYVE26	Uncertain significance	34082929	RCV000805336\|RCV001115293;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68273385	68273385	14:g.68273385C>T	-
NM_015346.4(ZFYVE26):c.887-38T>C	23503	ZFYVE26	Benign	181576	RCV001621747\|RCV002243339;	N	MedGen:C3661900\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68273430	68273430	68273430	-
NM_015346.4(ZFYVE26):c.886+1G>C	23503	ZFYVE26	Pathogenic	752618765	RCV001328901;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274114	68274114	68274114	-
NM_015346.4(ZFYVE26):c.878C>A (p.Ser293Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309370;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274123	68274123	68274123	-
NM_015346.4(ZFYVE26):c.827G>A (p.Gly276Asp)	23503	ZFYVE26	Uncertain significance	201273988	RCV000375098\|RCV000633049\|RCV002248614;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	14	68274174	68274174	NC_000014.8:g.68274174C>T	ClinGen:CA7240692	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.805C>T (p.Arg269Trp)	23503	ZFYVE26	Uncertain significance	778438729	RCV001115294\|RCV002556261;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68274196	68274196	14:g.68274196G>A	-
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	150230201	RCV000292145\|RCV000860644\|RCV001660641\|RCV001081273;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C00377	14	68274228	68274228	NC_000014.8:g.68274228C>T	ClinGen:CA7240705	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.769G>A (p.Glu257Lys)	23503	ZFYVE26	Uncertain significance	886050659	RCV000349684;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274232	68274232	NC_000014.8:g.68274232C>T	ClinGen:CA10645840	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.763C>T (p.Arg255Trp)	23503	ZFYVE26	Uncertain significance	267604034	RCV000399386\|RCV001848651\|RCV002520916\|RCV003314587;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype On	14	68274238	68274238	NC_000014.8:g.68274238G>A	ClinGen:CA7240709	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.748G>A (p.Glu250Lys)	23503	ZFYVE26	Benign/Likely benign	200340910	RCV000862180\|RCV001118447\|RCV001727807\|RCV001573944\|RCV001849156;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|MedGen:C36619	14	68274253	68274253	14:g.68274253C>T	-
NM_015346.4(ZFYVE26):c.741C>A (p.Cys247Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309971;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274260	68274260	68274260	-
NM_015346.4(ZFYVE26):c.684C>T (p.Pro228=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	369761894	RCV000607718\|RCV000866811\|RCV001118448;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274317	68274317	14:g.68274317G>A	ClinGen:CA7240730	CN169374 not specified;
NM_015346.4(ZFYVE26):c.678T>C (p.Arg226=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	762577403	RCV000869807\|RCV001118449;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274323	68274323	14:g.68274323A>G	-
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	147919567	RCV000314561\|RCV001079194\|RCV001848652\|RCV000517889\|RCV002227471\|RCV000513295;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C0	14	68274324	68274324	NC_000014.8:g.68274324C>T	ClinGen:CA7240736	CN517202 not provided;
NM_015346.4(ZFYVE26):c.646G>A (p.Asp216Asn)	23503	ZFYVE26	Uncertain significance	562335179	RCV001118450\|RCV002556517;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68274355	68274355	14:g.68274355C>T	-
NM_015346.4(ZFYVE26):c.620_621del (p.Pro207fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309147;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274380	68274381	68274379	-
NM_015346.4(ZFYVE26):c.606G>C (p.Arg202=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	187303187	RCV000865502\|RCV001118451;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274395	68274395	14:g.68274395C>G	-
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter)	23503	ZFYVE26	Pathogenic/Likely pathogenic	200832994	RCV000672398\|RCV000823623\|RCV002532123;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123	14	68274409	68274409	NC_000014.8:g.68274409G>A	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.517del (p.Glu173fs)	23503	ZFYVE26	Pathogenic	-1	RCV002471715;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274484	68274484	NC_000014.8:g.68274485del	-
NM_015346.4(ZFYVE26):c.484_485del (p.Arg162fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002308003;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274516	68274517	68274515	-
NM_015346.4(ZFYVE26):c.453C>T (p.Ser151=)	23503	ZFYVE26	Benign	75391113	RCV000343768\|RCV000461543\|RCV001672500\|RCV001848653;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900\|MONDO:MONDO:0	14	68274548	68274548	NC_000014.8:g.68274548G>A	ClinGen:CA7240781	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.443G>T (p.Arg148Leu)	23503	ZFYVE26	Uncertain significance	144919978	RCV000391657\|RCV000690440;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68274558	68274558	NC_000014.8:g.68274558C>A	ClinGen:CA7240785	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	144919978	RCV000308862\|RCV000518599\|RCV000865318;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68274558	68274558	NC_000014.8:g.68274558C>G	ClinGen:CA7240783	CN169374 not specified;
NM_015346.4(ZFYVE26):c.397G>A (p.Gly133Ser)	23503	ZFYVE26	Uncertain significance	199505106	RCV000365996\|RCV000537480\|RCV003126667;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	14	68274604	68274604	NC_000014.8:g.68274604C>T	ClinGen:CA7240794	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.375_376del (p.Glu125fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307181;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274625	68274626	68274624	-
NM_015346.4(ZFYVE26):c.372T>A (p.Tyr124Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309480;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68274629	68274629	68274629	-
NM_015346.4(ZFYVE26):c.364-12T>C	23503	ZFYVE26	Conflicting interpretations of pathogenicity	757340973	RCV001119969\|RCV002069950;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68274649	68274649	14:g.68274649A>G	-
NM_015346.4(ZFYVE26):c.363+2T>G	23503	ZFYVE26	Likely pathogenic	760001730	RCV000674974;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68275915	68275915	14:g.68275915A>C	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.363+1G>A	23503	ZFYVE26	Pathogenic/Likely pathogenic	935301743	RCV000666565\|RCV001849037\|RCV001868215;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype On	14	68275916	68275916	14:g.68275916C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	201229339	RCV000264348\|RCV002520917\|RCV002522320\|RCV000993051;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|	14	68275919	68275919	14:g.68275919C>T	ClinGen:CA7240820	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.274-2A>G	23503	ZFYVE26	Likely pathogenic	769329153	RCV000674973\|RCV000807263;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68276008	68276008	NC_000014.8:g.68276008T>C	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.273+13A>G	23503	ZFYVE26	Benign/Likely benign	150070634	RCV000303172\|RCV002056413;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68280690	68280690	NC_000014.8:g.68280690T>C	ClinGen:CA7240845	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.273+8G>A	23503	ZFYVE26	Uncertain significance	750522064	RCV000664734;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68280695	68280695	14:g.68280695C>T	-	C1849128 270700 Spastic paraplegia 15;
NM_015346.4(ZFYVE26):c.266G>C (p.Arg89Pro)	23503	ZFYVE26	Uncertain significance	138664542	RCV000360288\|RCV000684975;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68280710	68280710	NC_000014.8:g.68280710C>G	ClinGen:CA7240850	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.266G>A (p.Arg89Gln)	23503	ZFYVE26	Uncertain significance	138664542	RCV000461725\|RCV000763941\|RCV001848799;	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:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MONDO:MONDO:0019064,MedGen:C0	14	68280710	68280710	NC_000014.8:g.68280710C>T	ClinGen:CA7240851	C0037772 Spastic paraplegia;
NM_015346.4(ZFYVE26):c.253A>T (p.Lys85Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310275;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68280723	68280723	68280723	-
NM_015346.4(ZFYVE26):c.249G>T (p.Leu83=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	199674363	RCV000268119\|RCV001449118;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68280727	68280727	NC_000014.8:g.68280727C>A	ClinGen:CA7240854	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.237G>A (p.Trp79Ter)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310339;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68280739	68280739	68280739	-
NM_015346.4(ZFYVE26):c.215del (p.Pro72fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002309882;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68280761	68280761	68280760	-
NM_015346.4(ZFYVE26):c.143dup (p.Arg49fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002307049;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68282537	68282538	68282537	-
NM_015346.4(ZFYVE26):c.81A>T (p.Gly27=)	23503	ZFYVE26	Uncertain significance	201633671	RCV000316195;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68282600	68282600	NC_000014.8:g.68282600T>A	ClinGen:CA7240894	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.36_37del (p.Gln13fs)	23503	ZFYVE26	Likely pathogenic	-1	RCV002310471;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68282644	68282645	68282643	-
NM_015346.4(ZFYVE26):c.35C>T (p.Ser12Leu)	23503	ZFYVE26	Uncertain significance	200174594	RCV000355748;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68282646	68282646	NC_000014.8:g.68282646G>A	ClinGen:CA7240901	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.30T>G (p.Ala10=)	23503	ZFYVE26	Conflicting interpretations of pathogenicity	141905183	RCV000263317\|RCV000860555\|RCV001705471;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:C3661900	14	68282651	68282651	NC_000014.8:g.68282651A>C	ClinGen:CA7240902	CN169374 not specified;
NM_015346.4(ZFYVE26):c.6T>A (p.Asn2Lys)	23503	ZFYVE26	Uncertain significance	150603522	RCV000330062\|RCV002522321;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	14	68282675	68282675	NC_000014.8:g.68282675A>T	ClinGen:CA7240907	CN239433 Spastic Paraplegia, Recessive;
NM_015346.4(ZFYVE26):c.3G>T (p.Met1Ile)	23503	ZFYVE26	Pathogenic	1392868365	RCV001391435;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68282678	68282678	68282678	-
NM_015346.4(ZFYVE26):c.-70A>T	23503	ZFYVE26	Conflicting interpretations of pathogenicity	17192296	RCV001848654\|RCV000386931\|RCV000438375;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996\|MedGen:CN169374	14	68282750	68282750	14:g.68282750T>A	ClinGen:CA10635139	CN169374 not specified;
NM_015346.4(ZFYVE26):c.-120G>T	23503	ZFYVE26	Uncertain significance	886050660	RCV000294838;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68283287	68283287	14:g.68283287C>A	ClinGen:CA10644628	CN239433 Spastic Paraplegia, Recessive;
NM_015346.3(ZFYVE26):c.-149C>T	23503	ZFYVE26	Uncertain significance	1656903505	RCV001120267;	N	MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700, Orphanet:100996	14	68283316	68283316	14:g.68283316G>A	-

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